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.117540111_117540112del | CA327682 | CFTR | c.881_882del (p.Lys294ThrfsTer13) c.*778_*779del (n.*778_*779del) c.*705_*706del (n.*705_*706del) c.638_639del (p.Lys213ThrfsTer13) c.791_792del (p.Lys264ThrfsTer13) c.971_972del (p.Lys324ThrfsTer13) | ClinVar dbSNP |
7 | g.117540112A>C | CA368977915 | CFTR | c.882A>C (p.Lys294Asn) c.*779A>C (n.*779A>C) c.*706A>C (n.*706A>C) c.639A>C (p.Lys213Asn) c.792A>C (p.Lys264Asn) c.972A>C (p.Lys324Asn) | |
7 | g.117540112A>G | CA457448552 | CFTR | c.882A>G (p.Lys294=) c.*779A>G (n.*779A>G) c.*706A>G (n.*706A>G) c.639A>G (p.Lys213=) c.792A>G (p.Lys264=) c.972A>G (p.Lys324=) | ClinVar dbSNP |
7 | g.117540112A>T | CA368977916 | CFTR | c.882A>T (p.Lys294Asn) c.*779A>T (n.*779A>T) c.*706A>T (n.*706A>T) c.639A>T (p.Lys213Asn) c.792A>T (p.Lys264Asn) c.972A>T (p.Lys324Asn) | |
7 | g.117540113C>A | CA368977918 | CFTR | c.883C>A (p.Leu295Met) c.*780C>A (n.*780C>A) c.*707C>A (n.*707C>A) c.640C>A (p.Leu214Met) c.793C>A (p.Leu265Met) c.973C>A (p.Leu325Met) | gnomAD v4 |
7 | g.117540113C= | CA1737331817 | CFTR | c.883C= (p.Leu295=) c.*780C= (n.*780C=) c.*707C= (n.*707C=) c.640C= (p.Leu214=) c.793C= (p.Leu265=) c.973C= (p.Leu325=) | |
7 | g.117540113C>G | CA368977921 | CFTR | c.883C>G (p.Leu295Val) c.*780C>G (n.*780C>G) c.*707C>G (n.*707C>G) c.640C>G (p.Leu214Val) c.793C>G (p.Leu265Val) c.973C>G (p.Leu325Val) | gnomAD v4 |
7 | g.117540113C>T | CA457448554 | CFTR | c.883C>T (p.Leu295=) c.*780C>T (n.*780C>T) c.*707C>T (n.*707C>T) c.640C>T (p.Leu214=) c.793C>T (p.Leu265=) c.973C>T (p.Leu325=) | dbSNP |
7 | g.117540114del | CA2695208307 | CFTR | c.884del (p.Leu295ArgfsTer8) c.*781del (n.*781del) c.*708del (n.*708del) c.641del (p.Leu214ArgfsTer8) c.794del (p.Leu265ArgfsTer8) c.974del (p.Leu325ArgfsTer8) | |
7 | g.117540114T>A | CA368977927 | CFTR | c.884T>A (p.Leu295Gln) c.*781T>A (n.*781T>A) c.*708T>A (n.*708T>A) c.641T>A (p.Leu214Gln) c.794T>A (p.Leu265Gln) c.974T>A (p.Leu325Gln) | |
7 | g.117540114T>C | CA368977925 | CFTR | c.884T>C (p.Leu295Pro) c.*781T>C (n.*781T>C) c.*708T>C (n.*708T>C) c.641T>C (p.Leu214Pro) c.794T>C (p.Leu265Pro) c.974T>C (p.Leu325Pro) | gnomAD v4 |
7 | g.117540114T>G | CA368977924 | CFTR | c.884T>G (p.Leu295Arg) c.*781T>G (n.*781T>G) c.*708T>G (n.*708T>G) c.641T>G (p.Leu214Arg) c.794T>G (p.Leu265Arg) c.974T>G (p.Leu325Arg) | |
7 | g.117540115G>A | CA457448556 | CFTR | c.885G>A (p.Leu295=) c.*782G>A (n.*782G>A) c.*709G>A (n.*709G>A) c.642G>A (p.Leu214=) c.795G>A (p.Leu265=) c.975G>A (p.Leu325=) | |
7 | g.117540115G>C | CA457448558 | CFTR | c.885G>C (p.Leu295=) c.*782G>C (n.*782G>C) c.*709G>C (n.*709G>C) c.642G>C (p.Leu214=) c.795G>C (p.Leu265=) c.975G>C (p.Leu325=) | |
7 | g.117540115G= | CA1737331819 | CFTR | c.885G= (p.Leu295=) c.*782G= (n.*782G=) c.*709G= (n.*709G=) c.642G= (p.Leu214=) c.795G= (p.Leu265=) c.975G= (p.Leu325=) | |
7 | g.117540115G>T | CA457448560 | CFTR | c.885G>T (p.Leu295=) c.*782G>T (n.*782G>T) c.*709G>T (n.*709G>T) c.642G>T (p.Leu214=) c.795G>T (p.Leu265=) c.975G>T (p.Leu325=) | ClinVar |
7 | g.117540115_117540116insTTCT | CA4450859 | CFTR | c.885_886insTTCT (p.Thr296PhefsTer13) c.*782_*783insTTCT (n.*782_*783insTTCT) c.*709_*710insTTCT (n.*709_*710insTTCT) c.642_643insTTCT (p.Thr215PhefsTer13) c.795_796insTTCT (p.Thr266PhefsTer13) c.975_976insTTCT (p.Thr326PhefsTer13) | dbSNP ExAC gnomAD v2 |
7 | g.117540116A= | CA1737331821 | CFTR | c.886A= (p.Thr296=) c.*783A= (n.*783A=) c.*710A= (n.*710A=) c.643A= (p.Thr215=) c.796A= (p.Thr266=) c.976A= (p.Thr326=) | |
7 | g.117540116A>C | CA368977935 | CFTR | c.886A>C (p.Thr296Pro) c.*783A>C (n.*783A>C) c.*710A>C (n.*710A>C) c.643A>C (p.Thr215Pro) c.796A>C (p.Thr266Pro) c.976A>C (p.Thr326Pro) | |
7 | g.117540116A>G | CA368977938 | CFTR | c.886A>G (p.Thr296Ala) c.*783A>G (n.*783A>G) c.*710A>G (n.*710A>G) c.643A>G (p.Thr215Ala) c.796A>G (p.Thr266Ala) c.976A>G (p.Thr326Ala) | |
7 | g.117540116A>T | CA368977933 | CFTR | c.886A>T (p.Thr296Ser) c.*783A>T (n.*783A>T) c.*710A>T (n.*710A>T) c.643A>T (p.Thr215Ser) c.796A>T (p.Thr266Ser) c.976A>T (p.Thr326Ser) | |
7 | g.117540116_117540117delinsAC | CA1737331822 | CFTR | c.886_887delinsAC (p.Thr296=) c.*783_*784delinsAC (n.*783_*784delinsAC) c.*710_*711delinsAC (n.*710_*711delinsAC) c.643_644delinsAC (p.Thr215=) c.796_797delinsAC (p.Thr266=) c.976_977delinsAC (p.Thr326=) | |
7 | g.117540117del | CA4450860 | CFTR | c.887del (p.Thr296IlefsTer7) c.*784del (n.*784del) c.*711del (n.*711del) c.644del (p.Thr215IlefsTer7) c.797del (p.Thr266IlefsTer7) c.977del (p.Thr326IlefsTer7) | dbSNP ExAC gnomAD v2 |
7 | g.117540117C>A | CA368977944 | CFTR | c.887C>A (p.Thr296Asn) c.*784C>A (n.*784C>A) c.*711C>A (n.*711C>A) c.644C>A (p.Thr215Asn) c.797C>A (p.Thr266Asn) c.977C>A (p.Thr326Asn) | |
7 | g.117540117C>G | CA368977945 | CFTR | c.887C>G (p.Thr296Ser) c.*784C>G (n.*784C>G) c.*711C>G (n.*711C>G) c.644C>G (p.Thr215Ser) c.797C>G (p.Thr266Ser) c.977C>G (p.Thr326Ser) | |
7 | g.117540117C>T | CA368977946 | CFTR | c.887C>T (p.Thr296Ile) c.*784C>T (n.*784C>T) c.*711C>T (n.*711C>T) c.644C>T (p.Thr215Ile) c.797C>T (p.Thr266Ile) c.977C>T (p.Thr326Ile) | |
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) | ClinVar 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=) | |
7 | g.117540130C>G | CA457448584 | CFTR | c.900C>G (p.Ala300=) c.*797C>G (n.*797C>G) c.*724C>G (n.*724C>G) c.657C>G (p.Ala219=) c.810C>G (p.Ala270=) c.990C>G (p.Ala330=) | |
7 | g.117540130C>T | CA457448585 | CFTR | c.900C>T (p.Ala300=) c.*797C>T (n.*797C>T) c.*724C>T (n.*724C>T) c.657C>T (p.Ala219=) c.810C>T (p.Ala270=) c.990C>T (p.Ala330=) | ClinVar dbSNP gnomAD v4 |
7 | g.117540131T>A | CA368978027 | CFTR | c.901T>A (p.Tyr301Asn) c.*798T>A (n.*798T>A) c.*725T>A (n.*725T>A) c.658T>A (p.Tyr220Asn) c.811T>A (p.Tyr271Asn) c.991T>A (p.Tyr331Asn) | |
7 | g.117540131T>C | CA368978024 | CFTR | c.901T>C (p.Tyr301His) c.*798T>C (n.*798T>C) c.*725T>C (n.*725T>C) c.658T>C (p.Tyr220His) c.811T>C (p.Tyr271His) c.991T>C (p.Tyr331His) | ClinVar |
7 | g.117540131T>G | CA368978025 | CFTR | c.901T>G (p.Tyr301Asp) c.*798T>G (n.*798T>G) c.*725T>G (n.*725T>G) c.658T>G (p.Tyr220Asp) c.811T>G (p.Tyr271Asp) c.991T>G (p.Tyr331Asp) | |
7 | g.117540132A= | CA1737331838 | CFTR | c.902A= (p.Tyr301=) c.*799A= (n.*799A=) c.*726A= (n.*726A=) c.659A= (p.Tyr220=) c.812A= (p.Tyr271=) c.992A= (p.Tyr331=) | |
7 | g.117540132A>C | CA368978030 | CFTR | c.902A>C (p.Tyr301Ser) c.*799A>C (n.*799A>C) c.*726A>C (n.*726A>C) c.659A>C (p.Tyr220Ser) c.812A>C (p.Tyr271Ser) c.992A>C (p.Tyr331Ser) | |
7 | g.117540132A>G | CA247544 | CFTR | c.902A>G (p.Tyr301Cys) c.*799A>G (n.*799A>G) c.*726A>G (n.*726A>G) c.659A>G (p.Tyr220Cys) c.812A>G (p.Tyr271Cys) c.992A>G (p.Tyr331Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117540132A>T | CA368978033 | CFTR | c.902A>T (p.Tyr301Phe) c.*799A>T (n.*799A>T) c.*726A>T (n.*726A>T) c.659A>T (p.Tyr220Phe) c.812A>T (p.Tyr271Phe) c.992A>T (p.Tyr331Phe) | |
7 | g.117540132dup | CA2580076438 | CFTR | c.902dup (p.Tyr301Ter) c.*799dup (n.*799dup) c.*726dup (n.*726dup) c.659dup (p.Tyr220Ter) c.812dup (p.Tyr271Ter) c.992dup (p.Tyr331Ter) | ClinVar |
7 | g.117540133T>A | CA368978041 | CFTR | c.903T>A (p.Tyr301Ter) c.*800T>A (n.*800T>A) c.*727T>A (n.*727T>A) c.660T>A (p.Tyr220Ter) c.813T>A (p.Tyr271Ter) c.993T>A (p.Tyr331Ter) | |
7 | g.117540133T>C | CA457448588 | CFTR | c.903T>C (p.Tyr301=) c.*800T>C (n.*800T>C) c.*727T>C (n.*727T>C) c.660T>C (p.Tyr220=) c.813T>C (p.Tyr271=) c.993T>C (p.Tyr331=) | |
7 | g.117540133T>G | CA368978044 | CFTR | c.903T>G (p.Tyr301Ter) c.*800T>G (n.*800T>G) c.*727T>G (n.*727T>G) c.660T>G (p.Tyr220Ter) c.813T>G (p.Tyr271Ter) c.993T>G (p.Tyr331Ter) | |
7 | g.117540134G>A | CA368978048 | CFTR | c.904G>A (p.Val302Met) c.*801G>A (n.*801G>A) c.*728G>A (n.*728G>A) c.661G>A (p.Val221Met) c.814G>A (p.Val272Met) c.994G>A (p.Val332Met) | gnomAD v4 |
7 | g.117540134G>C | CA368978056 | CFTR | c.904G>C (p.Val302Leu) c.*801G>C (n.*801G>C) c.*728G>C (n.*728G>C) c.661G>C (p.Val221Leu) c.814G>C (p.Val272Leu) c.994G>C (p.Val332Leu) | |
7 | g.117540134G>T | CA368978053 | CFTR | c.904G>T (p.Val302Leu) c.*801G>T (n.*801G>T) c.*728G>T (n.*728G>T) c.661G>T (p.Val221Leu) c.814G>T (p.Val272Leu) c.994G>T (p.Val332Leu) | |
7 | g.117540135T>A | CA368978061 | CFTR | c.905T>A (p.Val302Glu) c.*802T>A (n.*802T>A) c.*729T>A (n.*729T>A) c.662T>A (p.Val221Glu) c.815T>A (p.Val272Glu) c.995T>A (p.Val332Glu) | ClinVar |
7 | g.117540135T>C | CA368978070 | CFTR | c.905T>C (p.Val302Ala) c.*802T>C (n.*802T>C) c.*729T>C (n.*729T>C) c.662T>C (p.Val221Ala) c.815T>C (p.Val272Ala) c.995T>C (p.Val332Ala) | ClinVar dbSNP |
7 | g.117540135T>G | CA368978073 | CFTR | c.905T>G (p.Val302Gly) c.*802T>G (n.*802T>G) c.*729T>G (n.*729T>G) c.662T>G (p.Val221Gly) c.815T>G (p.Val272Gly) c.995T>G (p.Val332Gly) | gnomAD v4 |
7 | g.117540135T= | CA1737331841 | CFTR | c.905T= (p.Val302=) c.*802T= (n.*802T=) c.*729T= (n.*729T=) c.662T= (p.Val221=) c.815T= (p.Val272=) c.995T= (p.Val332=) | |
7 | g.117540136G>A | CA457448591 | CFTR | c.906G>A (p.Val302=) c.*803G>A (n.*803G>A) c.*730G>A (n.*730G>A) c.663G>A (p.Val221=) c.816G>A (p.Val272=) c.996G>A (p.Val332=) | |
7 | g.117540136G>C | CA457448592 | CFTR | c.906G>C (p.Val302=) c.*803G>C (n.*803G>C) c.*730G>C (n.*730G>C) c.663G>C (p.Val221=) c.816G>C (p.Val272=) c.996G>C (p.Val332=) | ClinVar dbSNP gnomAD v4 |
7 | g.117540136G>T | CA457448593 | CFTR | c.906G>T (p.Val302=) c.*803G>T (n.*803G>T) c.*730G>T (n.*730G>T) c.663G>T (p.Val221=) c.816G>T (p.Val272=) c.996G>T (p.Val332=) | |
7 | g.117540137A>C | CA457448594 | CFTR | c.907A>C (p.Arg303=) c.*804A>C (n.*804A>C) c.*731A>C (n.*731A>C) c.664A>C (p.Arg222=) c.817A>C (p.Arg273=) c.997A>C (p.Arg333=) | |
7 | g.117540137A>G | CA368978075 | CFTR | c.907A>G (p.Arg303Gly) c.*804A>G (n.*804A>G) c.*731A>G (n.*731A>G) c.664A>G (p.Arg222Gly) c.817A>G (p.Arg273Gly) c.997A>G (p.Arg333Gly) | |
7 | g.117540137A>T | CA368978082 | CFTR | c.907A>T (p.Arg303Ter) c.*804A>T (n.*804A>T) c.*731A>T (n.*731A>T) c.664A>T (p.Arg222Ter) c.817A>T (p.Arg273Ter) c.997A>T (p.Arg333Ter) | |
7 | g.117540138G>A | CA368978087 | CFTR | c.908G>A (p.Arg303Lys) c.*805G>A (n.*805G>A) c.*732G>A (n.*732G>A) c.665G>A (p.Arg222Lys) c.818G>A (p.Arg273Lys) c.998G>A (p.Arg333Lys) | |
7 | g.117540138G>C | CA368978090 | CFTR | c.908G>C (p.Arg303Thr) c.*805G>C (n.*805G>C) c.*732G>C (n.*732G>C) c.665G>C (p.Arg222Thr) c.818G>C (p.Arg273Thr) c.998G>C (p.Arg333Thr) | |
7 | g.117540138G>T | CA368978091 | CFTR | c.908G>T (p.Arg303Ile) c.*805G>T (n.*805G>T) c.*732G>T (n.*732G>T) c.665G>T (p.Arg222Ile) c.818G>T (p.Arg273Ile) c.998G>T (p.Arg333Ile) | gnomAD v4 |
7 | g.117540139A= | CA1737331842 | CFTR | c.909A= (p.Arg303=) c.*806A= (n.*806A=) c.*733A= (n.*733A=) c.666A= (p.Arg222=) c.819A= (p.Arg273=) c.999A= (p.Arg333=) | |
7 | g.117540139A>C | CA368978095 | CFTR | c.909A>C (p.Arg303Ser) c.*806A>C (n.*806A>C) c.*733A>C (n.*733A>C) c.666A>C (p.Arg222Ser) c.819A>C (p.Arg273Ser) c.999A>C (p.Arg333Ser) | |
7 | g.117540139A>G | CA457448597 | CFTR | c.909A>G (p.Arg303=) c.*806A>G (n.*806A>G) c.*733A>G (n.*733A>G) c.666A>G (p.Arg222=) c.819A>G (p.Arg273=) c.999A>G (p.Arg333=) | |
7 | g.117540139A>T | CA368978100 | CFTR | c.909A>T (p.Arg303Ser) c.*806A>T (n.*806A>T) c.*733A>T (n.*733A>T) c.666A>T (p.Arg222Ser) c.819A>T (p.Arg273Ser) c.999A>T (p.Arg333Ser) | |
7 | g.117540140T>A | CA368978112 | CFTR | c.910T>A (p.Tyr304Asn) c.*807T>A (n.*807T>A) c.*734T>A (n.*734T>A) c.667T>A (p.Tyr223Asn) c.820T>A (p.Tyr274Asn) c.1000T>A (p.Tyr334Asn) | |
7 | g.117540140T>C | CA368978107 | CFTR | c.910T>C (p.Tyr304His) c.*807T>C (n.*807T>C) c.*734T>C (n.*734T>C) c.667T>C (p.Tyr223His) c.820T>C (p.Tyr274His) c.1000T>C (p.Tyr334His) | |
7 | g.117540140T>G | CA368978104 | CFTR | c.910T>G (p.Tyr304Asp) c.*807T>G (n.*807T>G) c.*734T>G (n.*734T>G) c.667T>G (p.Tyr223Asp) c.820T>G (p.Tyr274Asp) c.1000T>G (p.Tyr334Asp) | |
7 | g.117540141_117540143dup | CA577678369 | CFTR | c.911_913dup (p.Tyr304_Phe305insTyr) c.*808_*810dup (n.*808_*810dup) c.*735_*737dup (n.*735_*737dup) c.668_670dup (p.Tyr223_Phe224insTyr) c.821_823dup (p.Tyr274_Phe275insTyr) c.1001_1003dup (p.Tyr334_Phe335insTyr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117540141A= | CA1737331845 | CFTR | c.911A= (p.Tyr304=) c.*808A= (n.*808A=) c.*735A= (n.*735A=) c.668A= (p.Tyr223=) c.821A= (p.Tyr274=) c.1001A= (p.Tyr334=) | |
7 | g.117540141A>C | CA368978114 | CFTR | c.911A>C (p.Tyr304Ser) c.*808A>C (n.*808A>C) c.*735A>C (n.*735A>C) c.668A>C (p.Tyr223Ser) c.821A>C (p.Tyr274Ser) c.1001A>C (p.Tyr334Ser) | ClinVar dbSNP |
7 | g.117540141A>G | CA368978123 | CFTR | c.911A>G (p.Tyr304Cys) c.*808A>G (n.*808A>G) c.*735A>G (n.*735A>G) c.668A>G (p.Tyr223Cys) c.821A>G (p.Tyr274Cys) c.1001A>G (p.Tyr334Cys) | |
7 | g.117540141A>T | CA368978120 | CFTR | c.911A>T (p.Tyr304Phe) c.*808A>T (n.*808A>T) c.*735A>T (n.*735A>T) c.668A>T (p.Tyr223Phe) c.821A>T (p.Tyr274Phe) c.1001A>T (p.Tyr334Phe) | |
7 | g.117540142C>A | CA368978129 | CFTR | c.912C>A (p.Tyr304Ter) c.*809C>A (n.*809C>A) c.*736C>A (n.*736C>A) c.669C>A (p.Tyr223Ter) c.822C>A (p.Tyr274Ter) c.1002C>A (p.Tyr334Ter) | |
7 | g.117540142C= | CA1737331846 | CFTR | c.912C= (p.Tyr304=) c.*809C= (n.*809C=) c.*736C= (n.*736C=) c.669C= (p.Tyr223=) c.822C= (p.Tyr274=) c.1002C= (p.Tyr334=) | |
7 | g.117540142C>G | CA327687 | CFTR | c.912C>G (p.Tyr304Ter) c.*809C>G (n.*809C>G) c.*736C>G (n.*736C>G) c.669C>G (p.Tyr223Ter) c.822C>G (p.Tyr274Ter) c.1002C>G (p.Tyr334Ter) | ClinVar dbSNP |
7 | g.117540142C>T | CA4450862 | CFTR | c.912C>T (p.Tyr304=) c.*809C>T (n.*809C>T) c.*736C>T (n.*736C>T) c.669C>T (p.Tyr223=) c.822C>T (p.Tyr274=) c.1002C>T (p.Tyr334=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117540143T>A | CA368978138 | CFTR | c.913T>A (p.Phe305Ile) c.*810T>A (n.*810T>A) c.*737T>A (n.*737T>A) c.670T>A (p.Phe224Ile) c.823T>A (p.Phe275Ile) c.1003T>A (p.Phe335Ile) | |
7 | g.117540143T>C | CA368978139 | CFTR | c.913T>C (p.Phe305Leu) c.*810T>C (n.*810T>C) c.*737T>C (n.*737T>C) c.670T>C (p.Phe224Leu) c.823T>C (p.Phe275Leu) c.1003T>C (p.Phe335Leu) | |
7 | g.117540143T>G | CA327689 | CFTR | c.913T>G (p.Phe305Val) c.*810T>G (n.*810T>G) c.*737T>G (n.*737T>G) c.670T>G (p.Phe224Val) c.823T>G (p.Phe275Val) c.1003T>G (p.Phe335Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117540143T= | CA1737331852 | CFTR | c.913T= (p.Phe305=) c.*810T= (n.*810T=) c.*737T= (n.*737T=) c.670T= (p.Phe224=) c.823T= (p.Phe275=) c.1003T= (p.Phe335=) | |
7 | g.117540144T>A | CA368978150 | CFTR | c.914T>A (p.Phe305Tyr) c.*811T>A (n.*811T>A) c.*738T>A (n.*738T>A) c.671T>A (p.Phe224Tyr) c.824T>A (p.Phe275Tyr) c.1004T>A (p.Phe335Tyr) | |
7 | g.117540144T>C | CA368978148 | CFTR | c.914T>C (p.Phe305Ser) c.*811T>C (n.*811T>C) c.*738T>C (n.*738T>C) c.671T>C (p.Phe224Ser) c.824T>C (p.Phe275Ser) c.1004T>C (p.Phe335Ser) | |
7 | g.117540144T>G | CA368978146 | CFTR | c.914T>G (p.Phe305Cys) c.*811T>G (n.*811T>G) c.*738T>G (n.*738T>G) c.671T>G (p.Phe224Cys) c.824T>G (p.Phe275Cys) c.1004T>G (p.Phe335Cys) | ClinVar dbSNP gnomAD v4 |
7 | g.117540144T= | CA1737331854 | CFTR | c.914T= (p.Phe305=) c.*811T= (n.*811T=) c.*738T= (n.*738T=) c.671T= (p.Phe224=) c.824T= (p.Phe275=) c.1004T= (p.Phe335=) | |
7 | g.117540145C>A | CA368978151 | CFTR | c.915C>A (p.Phe305Leu) c.*812C>A (n.*812C>A) c.*739C>A (n.*739C>A) c.672C>A (p.Phe224Leu) c.825C>A (p.Phe275Leu) c.1005C>A (p.Phe335Leu) | |
7 | g.117540145C= | CA1737331857 | CFTR | c.915C= (p.Phe305=) c.*812C= (n.*812C=) c.*739C= (n.*739C=) c.672C= (p.Phe224=) c.825C= (p.Phe275=) c.1005C= (p.Phe335=) | |
7 | g.117540145C>G | CA368978153 | CFTR | c.915C>G (p.Phe305Leu) c.*812C>G (n.*812C>G) c.*739C>G (n.*739C>G) c.672C>G (p.Phe224Leu) c.825C>G (p.Phe275Leu) c.1005C>G (p.Phe335Leu) | ClinVar |
7 | g.117540145C>T | CA164953477 | CFTR | c.915C>T (p.Phe305=) c.*812C>T (n.*812C>T) c.*739C>T (n.*739C>T) c.672C>T (p.Phe224=) c.825C>T (p.Phe275=) c.1005C>T (p.Phe335=) | dbSNP gnomAD v4 |
7 | g.117540145_117540146del | CA2580076442 | CFTR | c.915_916del (p.Phe305LeufsTer2) c.*812_*813del (n.*812_*813del) c.*739_*740del (n.*739_*740del) c.672_673del (p.Phe224LeufsTer2) c.825_826del (p.Phe275LeufsTer2) c.1005_1006del (p.Phe335LeufsTer2) | ClinVar |
7 | g.117540146A>C | CA368978158 | CFTR | c.916A>C (p.Asn306His) c.*813A>C (n.*813A>C) c.*740A>C (n.*740A>C) c.673A>C (p.Asn225His) c.826A>C (p.Asn276His) c.1006A>C (p.Asn336His) | |
7 | g.117540146A>G | CA368978161 | CFTR | c.916A>G (p.Asn306Asp) c.*813A>G (n.*813A>G) c.*740A>G (n.*740A>G) c.673A>G (p.Asn225Asp) c.826A>G (p.Asn276Asp) c.1006A>G (p.Asn336Asp) | |
7 | g.117540146A>T | CA368978162 | CFTR | c.916A>T (p.Asn306Tyr) c.*813A>T (n.*813A>T) c.*740A>T (n.*740A>T) c.673A>T (p.Asn225Tyr) c.826A>T (p.Asn276Tyr) c.1006A>T (p.Asn336Tyr) | gnomAD v4 |
7 | g.117540147A= | CA1737331858 | CFTR | c.917A= (p.Asn306=) c.*814A= (n.*814A=) c.*741A= (n.*741A=) c.674A= (p.Asn225=) c.827A= (p.Asn276=) c.1007A= (p.Asn336=) | |
7 | g.117540147A>C | CA368978169 | CFTR | c.917A>C (p.Asn306Thr) c.*814A>C (n.*814A>C) c.*741A>C (n.*741A>C) c.674A>C (p.Asn225Thr) c.827A>C (p.Asn276Thr) c.1007A>C (p.Asn336Thr) | |
7 | g.117540147A>G | CA4450863 | CFTR | c.917A>G (p.Asn306Ser) c.*814A>G (n.*814A>G) c.*741A>G (n.*741A>G) c.674A>G (p.Asn225Ser) c.827A>G (p.Asn276Ser) c.1007A>G (p.Asn336Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117540147A>T | CA368978171 | CFTR | c.917A>T (p.Asn306Ile) c.*814A>T (n.*814A>T) c.*741A>T (n.*741A>T) c.674A>T (p.Asn225Ile) c.827A>T (p.Asn276Ile) c.1007A>T (p.Asn336Ile) | |
7 | g.117540148T>A | CA368978176 | CFTR | c.918T>A (p.Asn306Lys) c.*815T>A (n.*815T>A) c.*742T>A (n.*742T>A) c.675T>A (p.Asn225Lys) c.828T>A (p.Asn276Lys) c.1008T>A (p.Asn336Lys) | |
7 | g.117540148T>C | CA164953478 | CFTR | c.918T>C (p.Asn306=) c.*815T>C (n.*815T>C) c.*742T>C (n.*742T>C) c.675T>C (p.Asn225=) c.828T>C (p.Asn276=) c.1008T>C (p.Asn336=) | ClinVar dbSNP gnomAD v4 |
7 | g.117540148T>G | CA368978179 | CFTR | c.918T>G (p.Asn306Lys) c.*815T>G (n.*815T>G) c.*742T>G (n.*742T>G) c.675T>G (p.Asn225Lys) c.828T>G (p.Asn276Lys) c.1008T>G (p.Asn336Lys) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117540148T= | CA1737331862 | CFTR | c.918T= (p.Asn306=) c.*815T= (n.*815T=) c.*742T= (n.*742T=) c.675T= (p.Asn225=) c.828T= (p.Asn276=) c.1008T= (p.Asn336=) | |
7 | g.117540149A>C | CA368978182 | CFTR | c.919A>C (p.Ser307Arg) c.*816A>C (n.*816A>C) c.*743A>C (n.*743A>C) c.676A>C (p.Ser226Arg) c.829A>C (p.Ser277Arg) c.1009A>C (p.Ser337Arg) | |
7 | g.117540149A>G | CA368978186 | CFTR | c.919A>G (p.Ser307Gly) c.*816A>G (n.*816A>G) c.*743A>G (n.*743A>G) c.676A>G (p.Ser226Gly) c.829A>G (p.Ser277Gly) c.1009A>G (p.Ser337Gly) | |
7 | g.117540149A>T | CA368978192 | CFTR | c.919A>T (p.Ser307Cys) c.*816A>T (n.*816A>T) c.*743A>T (n.*743A>T) c.676A>T (p.Ser226Cys) c.829A>T (p.Ser277Cys) c.1009A>T (p.Ser337Cys) | |
7 | g.117540152_117540156del | CA2573141557 | CFTR | c.922_926del (p.Ser308LeufsTer?) c.*819_*823del (n.*819_*823del) c.*746_*750del (n.*746_*750del) c.679_683del (p.Ser227LeufsTer?) c.832_836del (p.Ser278LeufsTer?) c.1012_1016del (p.Ser338LeufsTer?) | ClinVar dbSNP |
7 | g.117540150G>A | CA327691 | CFTR | c.920G>A (p.Ser307Asn) c.*817G>A (n.*817G>A) c.*744G>A (n.*744G>A) c.677G>A (p.Ser226Asn) c.830G>A (p.Ser277Asn) c.1010G>A (p.Ser337Asn) | ClinVar dbSNP |
7 | g.117540150G>C | CA368978204 | CFTR | c.920G>C (p.Ser307Thr) c.*817G>C (n.*817G>C) c.*744G>C (n.*744G>C) c.677G>C (p.Ser226Thr) c.830G>C (p.Ser277Thr) c.1010G>C (p.Ser337Thr) | |
7 | g.117540150G= | CA1737331863 | CFTR | c.920G= (p.Ser307=) c.*817G= (n.*817G=) c.*744G= (n.*744G=) c.677G= (p.Ser226=) c.830G= (p.Ser277=) c.1010G= (p.Ser337=) | |
7 | g.117540150G>T | CA368978207 | CFTR | c.920G>T (p.Ser307Ile) c.*817G>T (n.*817G>T) c.*744G>T (n.*744G>T) c.677G>T (p.Ser226Ile) c.830G>T (p.Ser277Ile) c.1010G>T (p.Ser337Ile) | ClinVar |
7 | g.117540151C>A | CA368978211 | CFTR | c.921C>A (p.Ser307Arg) c.*818C>A (n.*818C>A) c.*745C>A (n.*745C>A) c.678C>A (p.Ser226Arg) c.831C>A (p.Ser277Arg) c.1011C>A (p.Ser337Arg) | |
7 | g.117540151C= | CA1737331866 | CFTR | c.921C= (p.Ser307=) c.*818C= (n.*818C=) c.*745C= (n.*745C=) c.678C= (p.Ser226=) c.831C= (p.Ser277=) c.1011C= (p.Ser337=) | |
7 | g.117540151C>G | CA368978215 | CFTR | c.921C>G (p.Ser307Arg) c.*818C>G (n.*818C>G) c.*745C>G (n.*745C>G) c.678C>G (p.Ser226Arg) c.831C>G (p.Ser277Arg) c.1011C>G (p.Ser337Arg) | gnomAD v4 |
7 | g.117540151C>T | CA457448603 | CFTR | c.921C>T (p.Ser307=) c.*818C>T (n.*818C>T) c.*745C>T (n.*745C>T) c.678C>T (p.Ser226=) c.831C>T (p.Ser277=) c.1011C>T (p.Ser337=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117540152T>A | CA368978221 | CFTR | c.922T>A (p.Ser308Thr) c.*819T>A (n.*819T>A) c.*746T>A (n.*746T>A) c.679T>A (p.Ser227Thr) c.832T>A (p.Ser278Thr) c.1012T>A (p.Ser338Thr) | |
7 | g.117540152T>C | CA368978223 | CFTR | c.922T>C (p.Ser308Pro) c.*819T>C (n.*819T>C) c.*746T>C (n.*746T>C) c.679T>C (p.Ser227Pro) c.832T>C (p.Ser278Pro) c.1012T>C (p.Ser338Pro) | |
7 | g.117540152T>G | CA368978222 | CFTR | c.922T>G (p.Ser308Ala) c.*819T>G (n.*819T>G) c.*746T>G (n.*746T>G) c.679T>G (p.Ser227Ala) c.832T>G (p.Ser278Ala) c.1012T>G (p.Ser338Ala) | |
7 | g.117540153C>A | CA368978225 | CFTR | c.923C>A (p.Ser308Ter) c.*820C>A (n.*820C>A) c.*747C>A (n.*747C>A) c.680C>A (p.Ser227Ter) c.833C>A (p.Ser278Ter) c.1013C>A (p.Ser338Ter) | |
7 | g.117540153C= | CA1737331868 | CFTR | c.923C= (p.Ser308=) c.*820C= (n.*820C=) c.*747C= (n.*747C=) c.680C= (p.Ser227=) c.833C= (p.Ser278=) c.1013C= (p.Ser338=) | |
7 | g.117540153C>G | CA368978226 | CFTR | c.923C>G (p.Ser308Ter) c.*820C>G (n.*820C>G) c.*747C>G (n.*747C>G) c.680C>G (p.Ser227Ter) c.833C>G (p.Ser278Ter) c.1013C>G (p.Ser338Ter) | |
7 | g.117540153C>T | CA368978228 | CFTR | c.923C>T (p.Ser308Leu) c.*820C>T (n.*820C>T) c.*747C>T (n.*747C>T) c.680C>T (p.Ser227Leu) c.833C>T (p.Ser278Leu) c.1013C>T (p.Ser338Leu) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117540154A= | CA1737331870 | CFTR | c.924A= (p.Ser308=) c.*821A= (n.*821A=) c.*748A= (n.*748A=) c.681A= (p.Ser227=) c.834A= (p.Ser278=) c.1014A= (p.Ser338=) | |
7 | g.117540154A>C | CA457448606 | CFTR | c.924A>C (p.Ser308=) c.*821A>C (n.*821A>C) c.*748A>C (n.*748A>C) c.681A>C (p.Ser227=) c.834A>C (p.Ser278=) c.1014A>C (p.Ser338=) | |
7 | g.117540154A>G | CA457448607 | CFTR | c.924A>G (p.Ser308=) c.*821A>G (n.*821A>G) c.*748A>G (n.*748A>G) c.681A>G (p.Ser227=) c.834A>G (p.Ser278=) c.1014A>G (p.Ser338=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117540154A>T | CA457448608 | CFTR | c.924A>T (p.Ser308=) c.*821A>T (n.*821A>T) c.*748A>T (n.*748A>T) c.681A>T (p.Ser227=) c.834A>T (p.Ser278=) c.1014A>T (p.Ser338=) | |
7 | g.117540155G>A | CA4450864 | CFTR | c.925G>A (p.Ala309Thr) c.*822G>A (n.*822G>A) c.*749G>A (n.*749G>A) c.682G>A (p.Ala228Thr) c.835G>A (p.Ala279Thr) c.1015G>A (p.Ala339Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117540155G>C | CA368978245 | CFTR | c.925G>C (p.Ala309Pro) c.*822G>C (n.*822G>C) c.*749G>C (n.*749G>C) c.682G>C (p.Ala228Pro) c.835G>C (p.Ala279Pro) c.1015G>C (p.Ala339Pro) | |
7 | g.117540155G= | CA1737331871 | CFTR | c.925G= (p.Ala309=) c.*822G= (n.*822G=) c.*749G= (n.*749G=) c.682G= (p.Ala228=) c.835G= (p.Ala279=) c.1015G= (p.Ala339=) | |
7 | g.117540155G>T | CA368978246 | CFTR | c.925G>T (p.Ala309Ser) c.*822G>T (n.*822G>T) c.*749G>T (n.*749G>T) c.682G>T (p.Ala228Ser) c.835G>T (p.Ala279Ser) c.1015G>T (p.Ala339Ser) | |
7 | g.117540156C>A | CA368978263 | CFTR | c.926C>A (p.Ala309Asp) c.*823C>A (n.*823C>A) c.*750C>A (n.*750C>A) c.683C>A (p.Ala228Asp) c.836C>A (p.Ala279Asp) c.1016C>A (p.Ala339Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117540156C= | CA1737331878 | CFTR | c.926C= (p.Ala309=) c.*823C= (n.*823C=) c.*750C= (n.*750C=) c.683C= (p.Ala228=) c.836C= (p.Ala279=) c.1016C= (p.Ala339=) | |
7 | g.117540156C>G | CA327692 | CFTR | c.926C>G (p.Ala309Gly) c.*823C>G (n.*823C>G) c.*750C>G (n.*750C>G) c.683C>G (p.Ala228Gly) c.836C>G (p.Ala279Gly) c.1016C>G (p.Ala339Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117540156C>T | CA368978259 | CFTR | c.926C>T (p.Ala309Val) c.*823C>T (n.*823C>T) c.*750C>T (n.*750C>T) c.683C>T (p.Ala228Val) c.836C>T (p.Ala279Val) c.1016C>T (p.Ala339Val) | ClinVar dbSNP |
7 | g.117540157del | CA2684618158 | CFTR | c.927del (p.Phe310SerfsTer18) c.*824del (n.*824del) c.*751del (n.*751del) c.684del (p.Phe229SerfsTer18) c.837del (p.Phe280SerfsTer18) c.1017del (p.Phe340SerfsTer18) | gnomAD v4 |
7 | g.117540156_117540159delinsCCTT | CA1737331876 | CFTR | c.926_929delinsCCTT (p.Ala309=) c.*823_*826delinsCCTT (n.*823_*826delinsCCTT) c.*750_*753delinsCCTT (n.*750_*753delinsCCTT) c.683_686delinsCCTT (p.Ala228=) c.836_839delinsCCTT (p.Ala279=) c.1016_1019delinsCCTT (p.Ala339=) | |
7 | g.117540157C>A | CA164953503 | CFTR | c.927C>A (p.Ala309=) c.*824C>A (n.*824C>A) c.*751C>A (n.*751C>A) c.684C>A (p.Ala228=) c.837C>A (p.Ala279=) c.1017C>A (p.Ala339=) | ClinVar dbSNP |
7 | g.117540157C= | CA1737331884 | CFTR | c.927C= (p.Ala309=) c.*824C= (n.*824C=) c.*751C= (n.*751C=) c.684C= (p.Ala228=) c.837C= (p.Ala279=) c.1017C= (p.Ala339=) | |
7 | g.117540157C>G | CA4450865 | CFTR | c.927C>G (p.Ala309=) c.*824C>G (n.*824C>G) c.*751C>G (n.*751C>G) c.684C>G (p.Ala228=) c.837C>G (p.Ala279=) c.1017C>G (p.Ala339=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.117540157C>T | CA4450866 | CFTR | c.927C>T (p.Ala309=) c.*824C>T (n.*824C>T) c.*751C>T (n.*751C>T) c.684C>T (p.Ala228=) c.837C>T (p.Ala279=) c.1017C>T (p.Ala339=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117540165_117540167dup | CA1737331881 | CFTR | c.935_937dup (p.Phe312_Ser313insPhe) c.*832_*834dup (n.*832_*834dup) c.*759_*761dup (n.*759_*761dup) c.692_694dup (p.Phe231_Ser232insPhe) c.845_847dup (p.Phe282_Ser283insPhe) c.1025_1027dup (p.Phe342_Ser343insPhe) | dbSNP |
7 | g.117540165_117540167del | CA221037 | CFTR | c.935_937del (p.Phe312del) c.*832_*834del (n.*832_*834del) c.*759_*761del (n.*759_*761del) c.692_694del (p.Phe231del) c.845_847del (p.Phe282del) c.1025_1027del (p.Phe342del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117540158T>A | CA368978289 | CFTR | c.928T>A (p.Phe310Ile) c.*825T>A (n.*825T>A) c.*752T>A (n.*752T>A) c.685T>A (p.Phe229Ile) c.838T>A (p.Phe280Ile) c.1018T>A (p.Phe340Ile) | |
7 | g.117540158T>C | CA368978296 | CFTR | c.928T>C (p.Phe310Leu) c.*825T>C (n.*825T>C) c.*752T>C (n.*752T>C) c.685T>C (p.Phe229Leu) c.838T>C (p.Phe280Leu) c.1018T>C (p.Phe340Leu) | |
7 | g.117540158T>G | CA368978293 | CFTR | c.928T>G (p.Phe310Val) c.*825T>G (n.*825T>G) c.*752T>G (n.*752T>G) c.685T>G (p.Phe229Val) c.838T>G (p.Phe280Val) c.1018T>G (p.Phe340Val) | |
7 | g.117540159T>A | CA368978299 | CFTR | c.929T>A (p.Phe310Tyr) c.*826T>A (n.*826T>A) c.*753T>A (n.*753T>A) c.686T>A (p.Phe229Tyr) c.839T>A (p.Phe280Tyr) c.1019T>A (p.Phe340Tyr) | |
7 | g.117540159T>C | CA368978303 | CFTR | c.929T>C (p.Phe310Ser) c.*826T>C (n.*826T>C) c.*753T>C (n.*753T>C) c.686T>C (p.Phe229Ser) c.839T>C (p.Phe280Ser) c.1019T>C (p.Phe340Ser) | |
7 | g.117540159T>G | CA368978305 | CFTR | c.929T>G (p.Phe310Cys) c.*826T>G (n.*826T>G) c.*753T>G (n.*753T>G) c.686T>G (p.Phe229Cys) c.839T>G (p.Phe280Cys) c.1019T>G (p.Phe340Cys) | gnomAD v4 |
7 | g.117540159_117540160delinsTC | CA1737331887 | CFTR | c.929_930delinsTC (p.Phe310=) c.*826_*827delinsTC (n.*826_*827delinsTC) c.*753_*754delinsTC (n.*753_*754delinsTC) c.686_687delinsTC (p.Phe229=) c.839_840delinsTC (p.Phe280=) c.1019_1020delinsTC (p.Phe340=) | |
7 | g.117540160del | CA915945466 | CFTR | c.930del (p.Phe311SerfsTer17) c.*827del (n.*827del) c.*754del (n.*754del) c.687del (p.Phe230SerfsTer17) c.840del (p.Phe281SerfsTer17) c.1020del (p.Phe341SerfsTer17) | ClinVar dbSNP |
7 | g.117540160C>A | CA368978306 | CFTR | c.930C>A (p.Phe310Leu) c.*827C>A (n.*827C>A) c.*754C>A (n.*754C>A) c.687C>A (p.Phe229Leu) c.840C>A (p.Phe280Leu) c.1020C>A (p.Phe340Leu) | gnomAD v4 |
7 | g.117540160C= | CA1737331893 | CFTR | c.930C= (p.Phe310=) c.*827C= (n.*827C=) c.*754C= (n.*754C=) c.687C= (p.Phe229=) c.840C= (p.Phe280=) c.1020C= (p.Phe340=) | |
7 | g.117540160C>G | CA368978310 | CFTR | c.930C>G (p.Phe310Leu) c.*827C>G (n.*827C>G) c.*754C>G (n.*754C>G) c.687C>G (p.Phe229Leu) c.840C>G (p.Phe280Leu) c.1020C>G (p.Phe340Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117540160C>T | CA457448611 | CFTR | c.930C>T (p.Phe310=) c.*827C>T (n.*827C>T) c.*754C>T (n.*754C>T) c.687C>T (p.Phe229=) c.840C>T (p.Phe280=) c.1020C>T (p.Phe340=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.117540161T>A | CA368978312 | CFTR | c.931T>A (p.Phe311Ile) c.*828T>A (n.*828T>A) c.*755T>A (n.*755T>A) c.688T>A (p.Phe230Ile) c.841T>A (p.Phe281Ile) c.1021T>A (p.Phe341Ile) | |
7 | g.117540161T>C | CA368978315 | CFTR | c.931T>C (p.Phe311Leu) c.*828T>C (n.*828T>C) c.*755T>C (n.*755T>C) c.688T>C (p.Phe230Leu) c.841T>C (p.Phe281Leu) c.1021T>C (p.Phe341Leu) | ClinVar dbSNP |
7 | g.117540161T>G | CA368978318 | CFTR | c.931T>G (p.Phe311Val) c.*828T>G (n.*828T>G) c.*755T>G (n.*755T>G) c.688T>G (p.Phe230Val) c.841T>G (p.Phe281Val) c.1021T>G (p.Phe341Val) | ClinVar |
7 | g.117540162T>A | CA368978325 | CFTR | c.932T>A (p.Phe311Tyr) c.*829T>A (n.*829T>A) c.*756T>A (n.*756T>A) c.689T>A (p.Phe230Tyr) c.842T>A (p.Phe281Tyr) c.1022T>A (p.Phe341Tyr) | |
7 | g.117540162T>C | CA368978324 | CFTR | c.932T>C (p.Phe311Ser) c.*829T>C (n.*829T>C) c.*756T>C (n.*756T>C) c.689T>C (p.Phe230Ser) c.842T>C (p.Phe281Ser) c.1022T>C (p.Phe341Ser) | ClinVar |
7 | g.117540162T>G | CA368978321 | CFTR | c.932T>G (p.Phe311Cys) c.*829T>G (n.*829T>G) c.*756T>G (n.*756T>G) c.689T>G (p.Phe230Cys) c.842T>G (p.Phe281Cys) c.1022T>G (p.Phe341Cys) | ClinVar dbSNP |
7 | g.117540162T= | CA1737331896 | CFTR | c.932T= (p.Phe311=) c.*829T= (n.*829T=) c.*756T= (n.*756T=) c.689T= (p.Phe230=) c.842T= (p.Phe281=) c.1022T= (p.Phe341=) | |
7 | g.117540163C>A | CA368978326 | CFTR | c.933C>A (p.Phe311Leu) c.*830C>A (n.*830C>A) c.*757C>A (n.*757C>A) c.690C>A (p.Phe230Leu) c.843C>A (p.Phe281Leu) c.1023C>A (p.Phe341Leu) | ClinVar |
7 | g.117540163C= | CA1737331899 | CFTR | c.933C= (p.Phe311=) c.*830C= (n.*830C=) c.*757C= (n.*757C=) c.690C= (p.Phe230=) c.843C= (p.Phe281=) c.1023C= (p.Phe341=) | |
7 | g.117540163C>G | CA325549 | CFTR | c.933C>G (p.Phe311Leu) c.*830C>G (n.*830C>G) c.*757C>G (n.*757C>G) c.690C>G (p.Phe230Leu) c.843C>G (p.Phe281Leu) c.1023C>G (p.Phe341Leu) | ClinVar dbSNP gnomAD v4 |
7 | g.117540163C>T | CA457448613 | CFTR | c.933C>T (p.Phe311=) c.*830C>T (n.*830C>T) c.*757C>T (n.*757C>T) c.690C>T (p.Phe230=) c.843C>T (p.Phe281=) c.1023C>T (p.Phe341=) | |
7 | g.117540163_117540164insAGAACTGGACGTAGATCAGCGTGAGCAGCTGTCAAAGCC | CA2500278839 | CFTR | c.933_934insAGAACTGGACGTAGATCAGCGTGAGCAGCTGTCAAAGCC c.*830_*831insAGAACTGGACGTAGATCAGCGTGAGCAGCTGTCAAAGCC (n.*830_*831insAGAACTGGACGTAGATCAGCGTGAGCAGCTGTCAAAGCC) c.*757_*758insAGAACTGGACGTAGATCAGCGTGAGCAGCTGTCAAAGCC (n.*757_*758insAGAACTGGACGTAGATCAGCGTGAGCAGCTGTCAAAGCC) c.690_691insAGAACTGGACGTAGATCAGCGTGAGCAGCTGTCAAAGCC c.843_844insAGAACTGGACGTAGATCAGCGTGAGCAGCTGTCAAAGCC c.1023_1024insAGAACTGGACGTAGATCAGCGTGAGCAGCTGTCAAAGCC | |
7 | g.117540163_117540164insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC | CA2546354450 | CFTR | c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC c.*830_*831insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC (n.*830_*831insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC) c.*757_*758insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC (n.*757_*758insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC) c.690_691insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC c.843_844insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC c.1023_1024insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC | |
7 | g.117540163_117540164insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA | CA2542784879 | CFTR | c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA (p.Phe312ArgfsTer8) c.*830_*831insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA (n.*830_*831insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA) c.*757_*758insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA (n.*757_*758insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA) c.690_691insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA (p.Phe231ArgfsTer8) c.843_844insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA (p.Phe282ArgfsTer8) c.1023_1024insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA (p.Phe342ArgfsTer8) | |
7 | g.117540163_117540164insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA | CA2564132800 | CFTR | c.933_934insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA (p.Phe312ArgfsTer8) c.*830_*831insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA (n.*830_*831insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA) c.*757_*758insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA (n.*757_*758insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA) c.690_691insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA (p.Phe231ArgfsTer8) c.843_844insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA (p.Phe282ArgfsTer8) c.1023_1024insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA (p.Phe342ArgfsTer8) | |
7 | g.117540163_117540164insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCATCAACTTGACCAGCCAGACCGCCACCTTTAACTAGAATAGTAACGTCGAA | CA2558367665 | CFTR | c.933_934insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCATCAACTTGACCAGCCAGACCGCCACCTTTAACTAGAATAGTAACGTCGAA (p.Phe312ArgfsTer8) c.*830_*831insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCATCAACTTGACCAGCCAGACCGCCACCTTTAACTAGAATAGTAACGTCGAA (n.*830_*831insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCATCAACTTGACCAGCCAGACCGCCACCTTTAACTAGAATAGTAACGTCGAA) c.*757_*758insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCATCAACTTGACCAGCCAGACCGCCACCTTTAACTAGAATAGTAACGTCGAA (n.*757_*758insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCATCAACTTGACCAGCCAGACCGCCACCTTTAACTAGAATAGTAACGTCGAA) c.690_691insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCATCAACTTGACCAGCCAGACCGCCACCTTTAACTAGAATAGTAACGTCGAA (p.Phe231ArgfsTer8) c.843_844insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCATCAACTTGACCAGCCAGACCGCCACCTTTAACTAGAATAGTAACGTCGAA (p.Phe282ArgfsTer8) c.1023_1024insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCATCAACTTGACCAGCCAGACCGCCACCTTTAACTAGAATAGTAACGTCGAA (p.Phe342ArgfsTer8) | |
7 | g.117540163_117540164insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA | CA2530333085 | CFTR | c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA (p.Phe312ArgfsTer8) c.*830_*831insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA (n.*830_*831insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA) c.*757_*758insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA (n.*757_*758insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA) c.690_691insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA (p.Phe231ArgfsTer8) c.843_844insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA (p.Phe282ArgfsTer8) c.1023_1024insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA (p.Phe342ArgfsTer8) | |
7 | g.117540163_117540164insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAGGATAGTAACGTCGAA | CA2554840762 | CFTR | c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAGGATAGTAACGTCGAA (p.Phe312ArgfsTer8) c.*830_*831insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAGGATAGTAACGTCGAA (n.*830_*831insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAGGATAGTAACGTCGAA) c.*757_*758insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAGGATAGTAACGTCGAA (n.*757_*758insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAGGATAGTAACGTCGAA) c.690_691insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAGGATAGTAACGTCGAA (p.Phe231ArgfsTer8) c.843_844insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAGGATAGTAACGTCGAA (p.Phe282ArgfsTer8) c.1023_1024insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAGGATAGTAACGTCGAA (p.Phe342ArgfsTer8) | |
7 | g.117540163_117540164insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACATCGAA | CA2532597899 | CFTR | c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACATCGAA (p.Phe312ArgfsTer8) c.*830_*831insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACATCGAA (n.*830_*831insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACATCGAA) c.*757_*758insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACATCGAA (n.*757_*758insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACATCGAA) c.690_691insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACATCGAA (p.Phe231ArgfsTer8) c.843_844insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACATCGAA (p.Phe282ArgfsTer8) c.1023_1024insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACATCGAA (p.Phe342ArgfsTer8) | |
7 | g.117540164T>A | CA368978329 | CFTR | c.934T>A (p.Phe312Ile) c.*831T>A (n.*831T>A) c.*758T>A (n.*758T>A) c.691T>A (p.Phe231Ile) c.844T>A (p.Phe282Ile) c.1024T>A (p.Phe342Ile) | |
7 | g.117540164T>C | CA368978327 | CFTR | c.934T>C (p.Phe312Leu) c.*831T>C (n.*831T>C) c.*758T>C (n.*758T>C) c.691T>C (p.Phe231Leu) c.844T>C (p.Phe282Leu) c.1024T>C (p.Phe342Leu) | |
7 | g.117540164T>G | CA368978328 | CFTR | c.934T>G (p.Phe312Val) c.*831T>G (n.*831T>G) c.*758T>G (n.*758T>G) c.691T>G (p.Phe231Val) c.844T>G (p.Phe282Val) c.1024T>G (p.Phe342Val) | |
7 | g.117540165T>A | CA368978332 | CFTR | c.935T>A (p.Phe312Tyr) c.*832T>A (n.*832T>A) c.*759T>A (n.*759T>A) c.692T>A (p.Phe231Tyr) c.845T>A (p.Phe282Tyr) c.1025T>A (p.Phe342Tyr) | |
7 | g.117540165T>C | CA368978333 | CFTR | c.935T>C (p.Phe312Ser) c.*832T>C (n.*832T>C) c.*759T>C (n.*759T>C) c.692T>C (p.Phe231Ser) c.845T>C (p.Phe282Ser) c.1025T>C (p.Phe342Ser) | |
7 | g.117540165T>G | CA368978335 | CFTR | c.935T>G (p.Phe312Cys) c.*832T>G (n.*832T>G) c.*759T>G (n.*759T>G) c.692T>G (p.Phe231Cys) c.845T>G (p.Phe282Cys) c.1025T>G (p.Phe342Cys) | |
7 | g.117540165_117540166insTGCAATACCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACGTCGAA | CA2562294255 | CFTR | c.935_936insTGCAATACCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACGTCGAA (p.Phe313AlafsTer10) c.*832_*833insTGCAATACCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACGTCGAA (n.*832_*833insTGCAATACCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACGTCGAA) c.*759_*760insTGCAATACCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACGTCGAA (n.*759_*760insTGCAATACCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACGTCGAA) c.692_693insTGCAATACCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACGTCGAA (p.Phe232AlafsTer10) c.845_846insTGCAATACCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACGTCGAA (p.Phe283AlafsTer10) c.1025_1026insTGCAATACCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACGTCGAA (p.Phe343AlafsTer10) | |
7 | g.117540165_117540166insTGCGATGCCAAGCTTGATGGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAAGATAGTAACGTCGAA | CA2518214346 | CFTR | c.935_936insTGCGATGCCAAGCTTGATGGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAAGATAGTAACGTCGAA (p.Phe313AlafsTer10) c.*832_*833insTGCGATGCCAAGCTTGATGGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAAGATAGTAACGTCGAA (n.*832_*833insTGCGATGCCAAGCTTGATGGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAAGATAGTAACGTCGAA) c.*759_*760insTGCGATGCCAAGCTTGATGGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAAGATAGTAACGTCGAA (n.*759_*760insTGCGATGCCAAGCTTGATGGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAAGATAGTAACGTCGAA) c.692_693insTGCGATGCCAAGCTTGATGGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAAGATAGTAACGTCGAA (p.Phe232AlafsTer10) c.845_846insTGCGATGCCAAGCTTGATGGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAAGATAGTAACGTCGAA (p.Phe283AlafsTer10) c.1025_1026insTGCGATGCCAAGCTTGATGGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAAGATAGTAACGTCGAA (p.Phe343AlafsTer10) | |
7 | g.117540166C>A | CA368978337 | CFTR | c.936C>A (p.Phe312Leu) c.*833C>A (n.*833C>A) c.*760C>A (n.*760C>A) c.693C>A (p.Phe231Leu) c.846C>A (p.Phe282Leu) c.1026C>A (p.Phe342Leu) | |
7 | g.117540166C>G | CA368978341 | CFTR | c.936C>G (p.Phe312Leu) c.*833C>G (n.*833C>G) c.*760C>G (n.*760C>G) c.693C>G (p.Phe231Leu) c.846C>G (p.Phe282Leu) c.1026C>G (p.Phe342Leu) | |
7 | g.117540166C>T | CA457448615 | CFTR | c.936C>T (p.Phe312=) c.*833C>T (n.*833C>T) c.*760C>T (n.*760C>T) c.693C>T (p.Phe231=) c.846C>T (p.Phe282=) c.1026C>T (p.Phe342=) | gnomAD v4 |
7 | g.117540167T>A | CA368978343 | CFTR | c.937T>A (p.Ser313Thr) c.*834T>A (n.*834T>A) c.*761T>A (n.*761T>A) c.694T>A (p.Ser232Thr) c.847T>A (p.Ser283Thr) c.1027T>A (p.Ser343Thr) | |
7 | g.117540167T>C | CA368978344 | CFTR | c.937T>C (p.Ser313Pro) c.*834T>C (n.*834T>C) c.*761T>C (n.*761T>C) c.694T>C (p.Ser232Pro) c.847T>C (p.Ser283Pro) c.1027T>C (p.Ser343Pro) | gnomAD v4 |
7 | g.117540167T>G | CA368978345 | CFTR | c.937T>G (p.Ser313Ala) c.*834T>G (n.*834T>G) c.*761T>G (n.*761T>G) c.694T>G (p.Ser232Ala) c.847T>G (p.Ser283Ala) c.1027T>G (p.Ser343Ala) | |
7 | g.117540168C>A | CA368978351 | CFTR | c.938C>A (p.Ser313Ter) c.*835C>A (n.*835C>A) c.*762C>A (n.*762C>A) c.695C>A (p.Ser232Ter) c.848C>A (p.Ser283Ter) c.1028C>A (p.Ser343Ter) | |
7 | g.117540168C>G | CA368978349 | CFTR | c.938C>G (p.Ser313Ter) c.*835C>G (n.*835C>G) c.*762C>G (n.*762C>G) c.695C>G (p.Ser232Ter) c.848C>G (p.Ser283Ter) c.1028C>G (p.Ser343Ter) | |
7 | g.117540168C>T | CA368978348 | CFTR | c.938C>T (p.Ser313Leu) c.*835C>T (n.*835C>T) c.*762C>T (n.*762C>T) c.695C>T (p.Ser232Leu) c.848C>T (p.Ser283Leu) c.1028C>T (p.Ser343Leu) | |
7 | g.117540169A= | CA1737331902 | CFTR | c.939A= (p.Ser313=) c.*836A= (n.*836A=) c.*763A= (n.*763A=) c.696A= (p.Ser232=) c.849A= (p.Ser283=) c.1029A= (p.Ser343=) | |
7 | g.117540169A>C | CA457448617 | CFTR | c.939A>C (p.Ser313=) c.*836A>C (n.*836A>C) c.*763A>C (n.*763A>C) c.696A>C (p.Ser232=) c.849A>C (p.Ser283=) c.1029A>C (p.Ser343=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117540169A>G | CA4450867 | CFTR | c.939A>G (p.Ser313=) c.*836A>G (n.*836A>G) c.*763A>G (n.*763A>G) c.696A>G (p.Ser232=) c.849A>G (p.Ser283=) c.1029A>G (p.Ser343=) | dbSNP ExAC |
7 | g.117540169A>T | CA457448620 | CFTR | c.939A>T (p.Ser313=) c.*836A>T (n.*836A>T) c.*763A>T (n.*763A>T) c.696A>T (p.Ser232=) c.849A>T (p.Ser283=) c.1029A>T (p.Ser343=) | |
7 | g.117540170G>A | CA368978359 | CFTR | c.940G>A (p.Gly314Arg) c.*837G>A (n.*837G>A) c.*764G>A (n.*764G>A) c.697G>A (p.Gly233Arg) c.850G>A (p.Gly284Arg) c.1030G>A (p.Gly344Arg) | |
7 | g.117540170G>C | CA327695 | CFTR | c.940G>C (p.Gly314Arg) c.*837G>C (n.*837G>C) c.*764G>C (n.*764G>C) c.697G>C (p.Gly233Arg) c.850G>C (p.Gly284Arg) c.1030G>C (p.Gly344Arg) | ClinVar dbSNP |
7 | g.117540170G= | CA1737331904 | CFTR | c.940G= (p.Gly314=) c.*837G= (n.*837G=) c.*764G= (n.*764G=) c.697G= (p.Gly233=) c.850G= (p.Gly284=) c.1030G= (p.Gly344=) | |
7 | g.117540170G>T | CA368978360 | CFTR | c.940G>T (p.Gly314Trp) c.*837G>T (n.*837G>T) c.*764G>T (n.*764G>T) c.697G>T (p.Gly233Trp) c.850G>T (p.Gly284Trp) c.1030G>T (p.Gly344Trp) | ClinVar dbSNP |
7 | g.117540171G>A | CA327696 | CFTR | c.941G>A (p.Gly314Glu) c.*838G>A (n.*838G>A) c.*765G>A (n.*765G>A) c.698G>A (p.Gly233Glu) c.851G>A (p.Gly284Glu) c.1031G>A (p.Gly344Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117540171G>C | CA368978366 | CFTR | c.941G>C (p.Gly314Ala) c.*838G>C (n.*838G>C) c.*765G>C (n.*765G>C) c.698G>C (p.Gly233Ala) c.851G>C (p.Gly284Ala) c.1031G>C (p.Gly344Ala) | ClinVar dbSNP gnomAD v4 |
7 | g.117540171G= | CA1737331911 | CFTR | c.941G= (p.Gly314=) c.*838G= (n.*838G=) c.*765G= (n.*765G=) c.698G= (p.Gly233=) c.851G= (p.Gly284=) c.1031G= (p.Gly344=) | |
7 | g.117540171G>T | CA327697 | CFTR | c.941G>T (p.Gly314Val) c.*838G>T (n.*838G>T) c.*765G>T (n.*765G>T) c.698G>T (p.Gly233Val) c.851G>T (p.Gly284Val) c.1031G>T (p.Gly344Val) | ClinVar dbSNP |
7 | g.117540172G>A | CA457448623 | CFTR | c.942G>A (p.Gly314=) c.*839G>A (n.*839G>A) c.*766G>A (n.*766G>A) c.699G>A (p.Gly233=) c.852G>A (p.Gly284=) c.1032G>A (p.Gly344=) | |
7 | g.117540172G>C | CA457448625 | CFTR | c.942G>C (p.Gly314=) c.*839G>C (n.*839G>C) c.*766G>C (n.*766G>C) c.699G>C (p.Gly233=) c.852G>C (p.Gly284=) c.1032G>C (p.Gly344=) | |
7 | g.117540172G= | CA1737331917 | CFTR | c.942G= (p.Gly314=) c.*839G= (n.*839G=) c.*766G= (n.*766G=) c.699G= (p.Gly233=) c.852G= (p.Gly284=) c.1032G= (p.Gly344=) | |
7 | g.117540172G>T | CA457448626 | CFTR | c.942G>T (p.Gly314=) c.*839G>T (n.*839G>T) c.*766G>T (n.*766G>T) c.699G>T (p.Gly233=) c.852G>T (p.Gly284=) c.1032G>T (p.Gly344=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117540173T>A | CA368978379 | CFTR | c.943T>A (p.Phe315Ile) c.*840T>A (n.*840T>A) c.*767T>A (n.*767T>A) c.700T>A (p.Phe234Ile) c.853T>A (p.Phe285Ile) c.1033T>A (p.Phe345Ile) | |
7 | g.117540173T>C | CA368978381 | CFTR | c.943T>C (p.Phe315Leu) c.*840T>C (n.*840T>C) c.*767T>C (n.*767T>C) c.700T>C (p.Phe234Leu) c.853T>C (p.Phe285Leu) c.1033T>C (p.Phe345Leu) | |
7 | g.117540173T>G | CA368978384 | CFTR | c.943T>G (p.Phe315Val) c.*840T>G (n.*840T>G) c.*767T>G (n.*767T>G) c.700T>G (p.Phe234Val) c.853T>G (p.Phe285Val) c.1033T>G (p.Phe345Val) | |
7 | g.117540174T>A | CA368978388 | CFTR | c.944T>A (p.Phe315Tyr) c.*841T>A (n.*841T>A) c.*768T>A (n.*768T>A) c.701T>A (p.Phe234Tyr) c.854T>A (p.Phe285Tyr) c.1034T>A (p.Phe345Tyr) | |
7 | g.117540174T>C | CA4450868 | CFTR | c.944T>C (p.Phe315Ser) c.*841T>C (n.*841T>C) c.*768T>C (n.*768T>C) c.701T>C (p.Phe234Ser) c.854T>C (p.Phe285Ser) c.1034T>C (p.Phe345Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117540174T>G | CA368978393 | CFTR | c.944T>G (p.Phe315Cys) c.*841T>G (n.*841T>G) c.*768T>G (n.*768T>G) c.701T>G (p.Phe234Cys) c.854T>G (p.Phe285Cys) c.1034T>G (p.Phe345Cys) | ClinVar |
7 | g.117540174T= | CA1737331919 | CFTR | c.944T= (p.Phe315=) c.*841T= (n.*841T=) c.*768T= (n.*768T=) c.701T= (p.Phe234=) c.854T= (p.Phe285=) c.1034T= (p.Phe345=) | |
7 | g.117540175C>A | CA368978399 | CFTR | c.945C>A (p.Phe315Leu) c.*842C>A (n.*842C>A) c.*769C>A (n.*769C>A) c.702C>A (p.Phe234Leu) c.855C>A (p.Phe285Leu) c.1035C>A (p.Phe345Leu) | |
7 | g.117540175C= | CA1737331925 | CFTR | c.945C= (p.Phe315=) c.*842C= (n.*842C=) c.*769C= (n.*769C=) c.702C= (p.Phe234=) c.855C= (p.Phe285=) c.1035C= (p.Phe345=) | |
7 | g.117540175C>G | CA368978397 | CFTR | c.945C>G (p.Phe315Leu) c.*842C>G (n.*842C>G) c.*769C>G (n.*769C>G) c.702C>G (p.Phe234Leu) c.855C>G (p.Phe285Leu) c.1035C>G (p.Phe345Leu) | dbSNP |
7 | g.117540175C>T | CA457448629 | CFTR | c.945C>T (p.Phe315=) c.*842C>T (n.*842C>T) c.*769C>T (n.*769C>T) c.702C>T (p.Phe234=) c.855C>T (p.Phe285=) c.1035C>T (p.Phe345=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.117540175_117540176delinsCT | CA1737331923 | CFTR | c.945_946delinsCT (p.Phe315=) c.*842_*843delinsCT (n.*842_*843delinsCT) c.*769_*770delinsCT (n.*769_*770delinsCT) c.702_703delinsCT (p.Phe234=) c.855_856delinsCT (p.Phe285=) c.1035_1036delinsCT (p.Phe345=) | |
7 | g.117540176T>A | CA368978421 | CFTR | c.946T>A (p.Phe316Ile) c.*843T>A (n.*843T>A) c.*770T>A (n.*770T>A) c.703T>A (p.Phe235Ile) c.856T>A (p.Phe286Ile) c.1036T>A (p.Phe346Ile) | |
7 | g.117540176T>C | CA368978420 | CFTR | c.946T>C (p.Phe316Leu) c.*843T>C (n.*843T>C) c.*770T>C (n.*770T>C) c.703T>C (p.Phe235Leu) c.856T>C (p.Phe286Leu) c.1036T>C (p.Phe346Leu) | |
7 | g.117540176T>G | CA368978419 | CFTR | c.946T>G (p.Phe316Val) c.*843T>G (n.*843T>G) c.*770T>G (n.*770T>G) c.703T>G (p.Phe235Val) c.856T>G (p.Phe286Val) c.1036T>G (p.Phe346Val) | |
7 | g.117540178dup | CA164953544 | CFTR | c.948dup (p.Val317CysfsTer?) c.*845dup (n.*845dup) c.*772dup (n.*772dup) c.705dup (p.Val236CysfsTer?) c.858dup (p.Val287CysfsTer?) c.1038dup (p.Val347CysfsTer?) | ClinVar |
7 | g.117540178del | CA221039 | CFTR | c.948del (p.Phe316LeufsTer12) c.*845del (n.*845del) c.*772del (n.*772del) c.705del (p.Phe235LeufsTer12) c.858del (p.Phe286LeufsTer12) c.1038del (p.Phe346LeufsTer12) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117540177T>A | CA368978423 | CFTR | c.947T>A (p.Phe316Tyr) c.*844T>A (n.*844T>A) c.*771T>A (n.*771T>A) c.704T>A (p.Phe235Tyr) c.857T>A (p.Phe286Tyr) c.1037T>A (p.Phe346Tyr) | ClinVar dbSNP |
7 | g.117540177T>C | CA164953556 | CFTR | c.947T>C (p.Phe316Ser) c.*844T>C (n.*844T>C) c.*771T>C (n.*771T>C) c.704T>C (p.Phe235Ser) c.857T>C (p.Phe286Ser) c.1037T>C (p.Phe346Ser) | ClinVar dbSNP |
7 | g.117540177T>G | CA368978425 | CFTR | c.947T>G (p.Phe316Cys) c.*844T>G (n.*844T>G) c.*771T>G (n.*771T>G) c.704T>G (p.Phe235Cys) c.857T>G (p.Phe286Cys) c.1037T>G (p.Phe346Cys) | |
7 | g.117540177T= | CA1737331933 | CFTR | c.947T= (p.Phe316=) c.*844T= (n.*844T=) c.*771T= (n.*771T=) c.704T= (p.Phe235=) c.857T= (p.Phe286=) c.1037T= (p.Phe346=) | |
7 | g.117540178T>A | CA368978427 | CFTR | c.948T>A (p.Phe316Leu) c.*845T>A (n.*845T>A) c.*772T>A (n.*772T>A) c.705T>A (p.Phe235Leu) c.858T>A (p.Phe286Leu) c.1038T>A (p.Phe346Leu) | |
7 | g.117540178T>C | CA457448630 | CFTR | c.948T>C (p.Phe316=) c.*845T>C (n.*845T>C) c.*772T>C (n.*772T>C) c.705T>C (p.Phe235=) c.858T>C (p.Phe286=) c.1038T>C (p.Phe346=) | |
7 | g.117540178T>G | CA10603955 | CFTR | c.948T>G (p.Phe316Leu) c.*845T>G (n.*845T>G) c.*772T>G (n.*772T>G) c.705T>G (p.Phe235Leu) c.858T>G (p.Phe286Leu) c.1038T>G (p.Phe346Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117540178T= | CA1737331938 | CFTR | c.948T= (p.Phe316=) c.*845T= (n.*845T=) c.*772T= (n.*772T=) c.705T= (p.Phe235=) c.858T= (p.Phe286=) c.1038T= (p.Phe346=) | |
7 | g.117540179G>A | CA368978429 | CFTR | c.949G>A (p.Val317Met) c.*846G>A (n.*846G>A) c.*773G>A (n.*773G>A) c.706G>A (p.Val236Met) c.859G>A (p.Val287Met) c.1039G>A (p.Val347Met) | ClinVar gnomAD v4 |
7 | g.117540179G>C | CA368978431 | CFTR | c.949G>C (p.Val317Leu) c.*846G>C (n.*846G>C) c.*773G>C (n.*773G>C) c.706G>C (p.Val236Leu) c.859G>C (p.Val287Leu) c.1039G>C (p.Val347Leu) | |
7 | g.117540179G>T | CA368978434 | CFTR | c.949G>T (p.Val317Leu) c.*846G>T (n.*846G>T) c.*773G>T (n.*773G>T) c.706G>T (p.Val236Leu) c.859G>T (p.Val287Leu) c.1039G>T (p.Val347Leu) | ClinVar |
7 | g.117540180T>A | CA368978447 | CFTR | c.950T>A (p.Val317Glu) c.*847T>A (n.*847T>A) c.*774T>A (n.*774T>A) c.707T>A (p.Val236Glu) c.860T>A (p.Val287Glu) c.1040T>A (p.Val347Glu) | ClinVar dbSNP gnomAD v4 |
7 | g.117540180T>C | CA368978444 | CFTR | c.950T>C (p.Val317Ala) c.*847T>C (n.*847T>C) c.*774T>C (n.*774T>C) c.707T>C (p.Val236Ala) c.860T>C (p.Val287Ala) c.1040T>C (p.Val347Ala) | ClinVar dbSNP gnomAD v4 |
7 | g.117540180T>G | CA368978446 | CFTR | c.950T>G (p.Val317Gly) c.*847T>G (n.*847T>G) c.*774T>G (n.*774T>G) c.707T>G (p.Val236Gly) c.860T>G (p.Val287Gly) c.1040T>G (p.Val347Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117540180T= | CA1737331942 | CFTR | c.950T= (p.Val317=) c.*847T= (n.*847T=) c.*774T= (n.*774T=) c.707T= (p.Val236=) c.860T= (p.Val287=) c.1040T= (p.Val347=) | |
7 | g.117540181G>A | CA457448633 | CFTR | c.951G>A (p.Val317=) c.*848G>A (n.*848G>A) c.*775G>A (n.*775G>A) c.708G>A (p.Val236=) c.861G>A (p.Val287=) c.1041G>A (p.Val347=) | gnomAD v4 |
7 | g.117540181G>C | CA457448634 | CFTR | c.951G>C (p.Val317=) c.*848G>C (n.*848G>C) c.*775G>C (n.*775G>C) c.708G>C (p.Val236=) c.861G>C (p.Val287=) c.1041G>C (p.Val347=) | |
7 | g.117540181G>T | CA457448635 | CFTR | c.951G>T (p.Val317=) c.*848G>T (n.*848G>T) c.*775G>T (n.*775G>T) c.708G>T (p.Val236=) c.861G>T (p.Val287=) c.1041G>T (p.Val347=) | |
7 | g.117540182G>A | CA368978450 | CFTR | c.952G>A (p.Val318Met) c.*849G>A (n.*849G>A) c.*776G>A (n.*776G>A) c.709G>A (p.Val237Met) c.862G>A (p.Val288Met) c.1042G>A (p.Val348Met) | |
7 | g.117540182G>C | CA368978454 | CFTR | c.952G>C (p.Val318Leu) c.*849G>C (n.*849G>C) c.*776G>C (n.*776G>C) c.709G>C (p.Val237Leu) c.862G>C (p.Val288Leu) c.1042G>C (p.Val348Leu) | |
7 | g.117540182G>T | CA368978455 | CFTR | c.952G>T (p.Val318Leu) c.*849G>T (n.*849G>T) c.*776G>T (n.*776G>T) c.709G>T (p.Val237Leu) c.862G>T (p.Val288Leu) c.1042G>T (p.Val348Leu) | |
7 | g.117540183T>A | CA368978457 | CFTR | c.953T>A (p.Val318Glu) c.*850T>A (n.*850T>A) c.*777T>A (n.*777T>A) c.710T>A (p.Val237Glu) c.863T>A (p.Val288Glu) c.1043T>A (p.Val348Glu) | |
7 | g.117540183T>C | CA368978460 | CFTR | c.953T>C (p.Val318Ala) c.*850T>C (n.*850T>C) c.*777T>C (n.*777T>C) c.710T>C (p.Val237Ala) c.863T>C (p.Val288Ala) c.1043T>C (p.Val348Ala) | |
7 | g.117540183T>G | CA368978462 | CFTR | c.953T>G (p.Val318Gly) c.*850T>G (n.*850T>G) c.*777T>G (n.*777T>G) c.710T>G (p.Val237Gly) c.863T>G (p.Val288Gly) c.1043T>G (p.Val348Gly) | |
7 | g.117540184G>A | CA4450869 | CFTR | c.954G>A (p.Val318=) c.*851G>A (n.*851G>A) c.*778G>A (n.*778G>A) c.711G>A (p.Val237=) c.864G>A (p.Val288=) c.1044G>A (p.Val348=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117540184G>C | CA457448639 | CFTR | c.954G>C (p.Val318=) c.*851G>C (n.*851G>C) c.*778G>C (n.*778G>C) c.711G>C (p.Val237=) c.864G>C (p.Val288=) c.1044G>C (p.Val348=) | |
7 | g.117540184G= | CA1737331950 | CFTR | c.954G= (p.Val318=) c.*851G= (n.*851G=) c.*778G= (n.*778G=) c.711G= (p.Val237=) c.864G= (p.Val288=) c.1044G= (p.Val348=) | |
7 | g.117540184G>T | CA457448638 | CFTR | c.954G>T (p.Val318=) c.*851G>T (n.*851G>T) c.*778G>T (n.*778G>T) c.711G>T (p.Val237=) c.864G>T (p.Val288=) c.1044G>T (p.Val348=) | |
7 | g.117540184_117540185delinsGT | CA1737331953 | CFTR | c.954_955delinsGT (p.Val318=) c.*851_*852delinsGT (n.*851_*852delinsGT) c.*778_*779delinsGT (n.*778_*779delinsGT) c.711_712delinsGT (p.Val237=) c.864_865delinsGT (p.Val288=) c.1044_1045delinsGT (p.Val348=) | |
7 | g.117540185T>A | CA368978467 | CFTR | c.955T>A (p.Phe319Ile) c.*852T>A (n.*852T>A) c.*779T>A (n.*779T>A) c.712T>A (p.Phe238Ile) c.865T>A (p.Phe289Ile) c.1045T>A (p.Phe349Ile) | |
7 | g.117540185T>C | CA368978470 | CFTR | c.955T>C (p.Phe319Leu) c.*852T>C (n.*852T>C) c.*779T>C (n.*779T>C) c.712T>C (p.Phe238Leu) c.865T>C (p.Phe289Leu) c.1045T>C (p.Phe349Leu) | |
7 | g.117540185T>G | CA368978471 | CFTR | c.955T>G (p.Phe319Val) c.*852T>G (n.*852T>G) c.*779T>G (n.*779T>G) c.712T>G (p.Phe238Val) c.865T>G (p.Phe289Val) c.1045T>G (p.Phe349Val) | |
7 | g.117540189del | CA915945467 | CFTR | c.959del (p.Leu320TyrfsTer8) c.*856del (n.*856del) c.*783del (n.*783del) c.716del (p.Leu239TyrfsTer8) c.869del (p.Leu290TyrfsTer8) c.1049del (p.Leu350TyrfsTer8) | ClinVar dbSNP |
7 | g.117540186T>A | CA368978473 | CFTR | c.956T>A (p.Phe319Tyr) c.*853T>A (n.*853T>A) c.*780T>A (n.*780T>A) c.713T>A (p.Phe238Tyr) c.866T>A (p.Phe289Tyr) c.1046T>A (p.Phe349Tyr) | |
7 | g.117540186T>C | CA368978476 | CFTR | c.956T>C (p.Phe319Ser) c.*853T>C (n.*853T>C) c.*780T>C (n.*780T>C) c.713T>C (p.Phe238Ser) c.866T>C (p.Phe289Ser) c.1046T>C (p.Phe349Ser) | |
7 | g.117540186T>G | CA368978478 | CFTR | c.956T>G (p.Phe319Cys) c.*853T>G (n.*853T>G) c.*780T>G (n.*780T>G) c.713T>G (p.Phe238Cys) c.866T>G (p.Phe289Cys) c.1046T>G (p.Phe349Cys) | |
7 | g.117540187T>A | CA368978479 | CFTR | c.957T>A (p.Phe319Leu) c.*854T>A (n.*854T>A) c.*781T>A (n.*781T>A) c.714T>A (p.Phe238Leu) c.867T>A (p.Phe289Leu) c.1047T>A (p.Phe349Leu) | |
7 | g.117540187T>C | CA457448643 | CFTR | c.957T>C (p.Phe319=) c.*854T>C (n.*854T>C) c.*781T>C (n.*781T>C) c.714T>C (p.Phe238=) c.867T>C (p.Phe289=) c.1047T>C (p.Phe349=) | |
7 | g.117540187T>G | CA368978482 | CFTR | c.957T>G (p.Phe319Leu) c.*854T>G (n.*854T>G) c.*781T>G (n.*781T>G) c.714T>G (p.Phe238Leu) c.867T>G (p.Phe289Leu) c.1047T>G (p.Phe349Leu) | |
7 | g.117540188T>A | CA368978483 | CFTR | c.958T>A (p.Leu320Ile) c.*855T>A (n.*855T>A) c.*782T>A (n.*782T>A) c.715T>A (p.Leu239Ile) c.868T>A (p.Leu290Ile) c.1048T>A (p.Leu350Ile) | |
7 | g.117540188T>C | CA457448644 | CFTR | c.958T>C (p.Leu320=) c.*855T>C (n.*855T>C) c.*782T>C (n.*782T>C) c.715T>C (p.Leu239=) c.868T>C (p.Leu290=) c.1048T>C (p.Leu350=) | |
7 | g.117540188T>G | CA325718 | CFTR | c.958T>G (p.Leu320Val) c.*855T>G (n.*855T>G) c.*782T>G (n.*782T>G) c.715T>G (p.Leu239Val) c.868T>G (p.Leu290Val) c.1048T>G (p.Leu350Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117540188T= | CA1737331960 | CFTR | c.958T= (p.Leu320=) c.*855T= (n.*855T=) c.*782T= (n.*782T=) c.715T= (p.Leu239=) c.868T= (p.Leu290=) c.1048T= (p.Leu350=) | |
7 | g.117540189T>A | CA327699 | CFTR | c.959T>A (p.Leu320Ter) c.*856T>A (n.*856T>A) c.*783T>A (n.*783T>A) c.716T>A (p.Leu239Ter) c.869T>A (p.Leu290Ter) c.1049T>A (p.Leu350Ter) | ClinVar dbSNP |
7 | g.117540189T>C | CA368978486 | CFTR | c.959T>C (p.Leu320Ser) c.*856T>C (n.*856T>C) c.*783T>C (n.*783T>C) c.716T>C (p.Leu239Ser) c.869T>C (p.Leu290Ser) c.1049T>C (p.Leu350Ser) | gnomAD v4 |
7 | g.117540189T>G | CA368978484 | CFTR | c.959T>G (p.Leu320Ter) c.*856T>G (n.*856T>G) c.*783T>G (n.*783T>G) c.716T>G (p.Leu239Ter) c.869T>G (p.Leu290Ter) c.1049T>G (p.Leu350Ter) | |
7 | g.117540189T= | CA1737331965 | CFTR | c.959T= (p.Leu320=) c.*856T= (n.*856T=) c.*783T= (n.*783T=) c.716T= (p.Leu239=) c.869T= (p.Leu290=) c.1049T= (p.Leu350=) | |
7 | g.117540190A= | CA1737331973 | CFTR | c.960A= (p.Leu320=) c.*857A= (n.*857A=) c.*784A= (n.*784A=) c.717A= (p.Leu239=) c.870A= (p.Leu290=) c.1050A= (p.Leu350=) | |
7 | g.117540190A>C | CA368978487 | CFTR | c.960A>C (p.Leu320Phe) c.*857A>C (n.*857A>C) c.*784A>C (n.*784A>C) c.717A>C (p.Leu239Phe) c.870A>C (p.Leu290Phe) c.1050A>C (p.Leu350Phe) | ClinVar dbSNP gnomAD v4 |
7 | g.117540190A>G | CA10605106 | CFTR | c.960A>G (p.Leu320=) c.*857A>G (n.*857A>G) c.*784A>G (n.*784A>G) c.717A>G (p.Leu239=) c.870A>G (p.Leu290=) c.1050A>G (p.Leu350=) | ClinVar dbSNP gnomAD v4 |
7 | g.117540190A>T | CA327703 | CFTR | c.960A>T (p.Leu320Phe) c.*857A>T (n.*857A>T) c.*784A>T (n.*784A>T) c.717A>T (p.Leu239Phe) c.870A>T (p.Leu290Phe) c.1050A>T (p.Leu350Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117540190dup | CA2580076446 | CFTR | c.960dup (p.Ser321IlefsTer?) c.*857dup (n.*857dup) c.*784dup (n.*784dup) c.717dup (p.Ser240IlefsTer?) c.870dup (p.Ser291IlefsTer?) c.1050dup (p.Ser351IlefsTer?) | ClinVar |
7 | g.117540191T>A | CA368978499 | CFTR | c.961T>A (p.Ser321Thr) c.*858T>A (n.*858T>A) c.*785T>A (n.*785T>A) c.718T>A (p.Ser240Thr) c.871T>A (p.Ser291Thr) c.1051T>A (p.Ser351Thr) | |
7 | g.117540191T>C | CA4450870 | CFTR | c.961T>C (p.Ser321Pro) c.*858T>C (n.*858T>C) c.*785T>C (n.*785T>C) c.718T>C (p.Ser240Pro) c.871T>C (p.Ser291Pro) c.1051T>C (p.Ser351Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117540191T>G | CA368978506 | CFTR | c.961T>G (p.Ser321Ala) c.*858T>G (n.*858T>G) c.*785T>G (n.*785T>G) c.718T>G (p.Ser240Ala) c.871T>G (p.Ser291Ala) c.1051T>G (p.Ser351Ala) | |
7 | g.117540191T= | CA1737331976 | CFTR | c.961T= (p.Ser321=) c.*858T= (n.*858T=) c.*785T= (n.*785T=) c.718T= (p.Ser240=) c.871T= (p.Ser291=) c.1051T= (p.Ser351=) | |
7 | g.117540192del | CA2580076447 | CFTR | c.962del (p.Ser321LeufsTer7) c.*859del (n.*859del) c.*786del (n.*786del) c.719del (p.Ser240LeufsTer7) c.872del (p.Ser291LeufsTer7) c.1052del (p.Ser351LeufsTer7) | ClinVar |
7 | g.117540192C>A | CA368978509 | CFTR | c.962C>A (p.Ser321Tyr) c.*859C>A (n.*859C>A) c.*786C>A (n.*786C>A) c.719C>A (p.Ser240Tyr) c.872C>A (p.Ser291Tyr) c.1052C>A (p.Ser351Tyr) | |
7 | g.117540192C= | CA1737331980 | CFTR | c.962C= (p.Ser321=) c.*859C= (n.*859C=) c.*786C= (n.*786C=) c.719C= (p.Ser240=) c.872C= (p.Ser291=) c.1052C= (p.Ser351=) | |
7 | g.117540192C>G | CA368978510 | CFTR | c.962C>G (p.Ser321Cys) c.*859C>G (n.*859C>G) c.*786C>G (n.*786C>G) c.719C>G (p.Ser240Cys) c.872C>G (p.Ser291Cys) c.1052C>G (p.Ser351Cys) | ClinVar dbSNP |
7 | g.117540192C>T | CA368978511 | CFTR | c.962C>T (p.Ser321Phe) c.*859C>T (n.*859C>T) c.*786C>T (n.*786C>T) c.719C>T (p.Ser240Phe) c.872C>T (p.Ser291Phe) c.1052C>T (p.Ser351Phe) | COSMIC |
7 | g.117540193T>A | CA457448649 | CFTR | c.963T>A (p.Ser321=) c.*860T>A (n.*860T>A) c.*787T>A (n.*787T>A) c.720T>A (p.Ser240=) c.873T>A (p.Ser291=) c.1053T>A (p.Ser351=) | |
7 | g.117540193T>C | CA4450871 | CFTR | c.963T>C (p.Ser321=) c.*860T>C (n.*860T>C) c.*787T>C (n.*787T>C) c.720T>C (p.Ser240=) c.873T>C (p.Ser291=) c.1053T>C (p.Ser351=) | dbSNP ExAC gnomAD v2 |
7 | g.117540193T>G | CA457448650 | CFTR | c.963T>G (p.Ser321=) c.*860T>G (n.*860T>G) c.*787T>G (n.*787T>G) c.720T>G (p.Ser240=) c.873T>G (p.Ser291=) c.1053T>G (p.Ser351=) | COSMIC |
7 | g.117540193T= | CA1737331984 | CFTR | c.963T= (p.Ser321=) c.*860T= (n.*860T=) c.*787T= (n.*787T=) c.720T= (p.Ser240=) c.873T= (p.Ser291=) c.1053T= (p.Ser351=) | |
7 | g.117540194G>A | CA132755 | CFTR | c.964G>A (p.Val322Met) c.*861G>A (n.*861G>A) c.*788G>A (n.*788G>A) c.721G>A (p.Val241Met) c.874G>A (p.Val292Met) c.1054G>A (p.Val352Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117540194G>C | CA368978521 | CFTR | c.964G>C (p.Val322Leu) c.*861G>C (n.*861G>C) c.*788G>C (n.*788G>C) c.721G>C (p.Val241Leu) c.874G>C (p.Val292Leu) c.1054G>C (p.Val352Leu) | |
7 | g.117540194G= | CA1737331991 | CFTR | c.964G= (p.Val322=) c.*861G= (n.*861G=) c.*788G= (n.*788G=) c.721G= (p.Val241=) c.874G= (p.Val292=) c.1054G= (p.Val352=) | |
7 | g.117540194G>T | CA368978522 | CFTR | c.964G>T (p.Val322Leu) c.*861G>T (n.*861G>T) c.*788G>T (n.*788G>T) c.721G>T (p.Val241Leu) c.874G>T (p.Val292Leu) c.1054G>T (p.Val352Leu) | |
7 | g.117540195T>A | CA368978531 | CFTR | c.965T>A (p.Val322Glu) c.*862T>A (n.*862T>A) c.*789T>A (n.*789T>A) c.722T>A (p.Val241Glu) c.875T>A (p.Val292Glu) c.1055T>A (p.Val352Glu) | |
7 | g.117540195T>C | CA368978524 | CFTR | c.965T>C (p.Val322Ala) c.*862T>C (n.*862T>C) c.*789T>C (n.*789T>C) c.722T>C (p.Val241Ala) c.875T>C (p.Val292Ala) c.1055T>C (p.Val352Ala) | |
7 | g.117540195T>G | CA368978527 | CFTR | c.965T>G (p.Val322Gly) c.*862T>G (n.*862T>G) c.*789T>G (n.*789T>G) c.722T>G (p.Val241Gly) c.875T>G (p.Val292Gly) c.1055T>G (p.Val352Gly) | |
7 | g.117540196G>A | CA457448655 | CFTR | c.966G>A (p.Val322=) c.*863G>A (n.*863G>A) c.*790G>A (n.*790G>A) c.723G>A (p.Val241=) c.876G>A (p.Val292=) c.1056G>A (p.Val352=) | |
7 | g.117540196G>C | CA457448656 | CFTR | c.966G>C (p.Val322=) c.*863G>C (n.*863G>C) c.*790G>C (n.*790G>C) c.723G>C (p.Val241=) c.876G>C (p.Val292=) c.1056G>C (p.Val352=) | ClinVar dbSNP |
7 | g.117540196G>T | CA457448657 | CFTR | c.966G>T (p.Val322=) c.*863G>T (n.*863G>T) c.*790G>T (n.*790G>T) c.723G>T (p.Val241=) c.876G>T (p.Val292=) c.1056G>T (p.Val352=) | |
7 | g.117540197C>A | CA368978533 | CFTR | c.967C>A (p.Leu323Ile) c.*864C>A (n.*864C>A) c.*791C>A (n.*791C>A) c.724C>A (p.Leu242Ile) c.877C>A (p.Leu293Ile) c.1057C>A (p.Leu353Ile) | |
7 | g.117540197C>G | CA368978535 | CFTR | c.967C>G (p.Leu323Val) c.*864C>G (n.*864C>G) c.*791C>G (n.*791C>G) c.724C>G (p.Leu242Val) c.877C>G (p.Leu293Val) c.1057C>G (p.Leu353Val) | |
7 | g.117540197C>T | CA368978537 | CFTR | c.967C>T (p.Leu323Phe) c.*864C>T (n.*864C>T) c.*791C>T (n.*791C>T) c.724C>T (p.Leu242Phe) c.877C>T (p.Leu293Phe) c.1057C>T (p.Leu353Phe) | |
7 | g.117540198T>A | CA368978541 | CFTR | c.968T>A (p.Leu323His) c.*865T>A (n.*865T>A) c.*792T>A (n.*792T>A) c.725T>A (p.Leu242His) c.878T>A (p.Leu293His) c.1058T>A (p.Leu353His) | |
7 | g.117540198T>C | CA368978546 | CFTR | c.968T>C (p.Leu323Pro) c.*865T>C (n.*865T>C) c.*792T>C (n.*792T>C) c.725T>C (p.Leu242Pro) c.878T>C (p.Leu293Pro) c.1058T>C (p.Leu353Pro) | |
7 | g.117540198T>G | CA368978547 | CFTR | c.968T>G (p.Leu323Arg) c.*865T>G (n.*865T>G) c.*792T>G (n.*792T>G) c.725T>G (p.Leu242Arg) c.878T>G (p.Leu293Arg) c.1058T>G (p.Leu353Arg) | |
7 | g.117540199T>A | CA457448661 | CFTR | c.969T>A (p.Leu323=) c.*866T>A (n.*866T>A) c.*793T>A (n.*793T>A) c.726T>A (p.Leu242=) c.879T>A (p.Leu293=) c.1059T>A (p.Leu353=) | ClinVar |
7 | g.117540199T>C | CA457448659 | CFTR | c.969T>C (p.Leu323=) c.*866T>C (n.*866T>C) c.*793T>C (n.*793T>C) c.726T>C (p.Leu242=) c.879T>C (p.Leu293=) c.1059T>C (p.Leu353=) | |
7 | g.117540199T>G | CA457448660 | CFTR | c.969T>G (p.Leu323=) c.*866T>G (n.*866T>G) c.*793T>G (n.*793T>G) c.726T>G (p.Leu242=) c.879T>G (p.Leu293=) c.1059T>G (p.Leu353=) | |
7 | g.117540200C>A | CA368978550 | CFTR | c.970C>A (p.Pro324Thr) c.*867C>A (n.*867C>A) c.*794C>A (n.*794C>A) c.727C>A (p.Pro243Thr) c.880C>A (p.Pro294Thr) c.1060C>A (p.Pro354Thr) | |
7 | g.117540200C= | CA1737331997 | CFTR | c.970C= (p.Pro324=) c.*867C= (n.*867C=) c.*794C= (n.*794C=) c.727C= (p.Pro243=) c.880C= (p.Pro294=) c.1060C= (p.Pro354=) | |
7 | g.117540200C>G | CA368978552 | CFTR | c.970C>G (p.Pro324Ala) c.*867C>G (n.*867C>G) c.*794C>G (n.*794C>G) c.727C>G (p.Pro243Ala) c.880C>G (p.Pro294Ala) c.1060C>G (p.Pro354Ala) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117540200C>T | CA164953594 | CFTR | c.970C>T (p.Pro324Ser) c.*867C>T (n.*867C>T) c.*794C>T (n.*794C>T) c.727C>T (p.Pro243Ser) c.880C>T (p.Pro294Ser) c.1060C>T (p.Pro354Ser) | dbSNP COSMIC |
7 | g.117540202del | CA2580076450 | CFTR | c.972del (p.Tyr325MetfsTer3) c.*869del (n.*869del) c.*796del (n.*796del) c.729del (p.Tyr244MetfsTer3) c.882del (p.Tyr295MetfsTer3) c.1062del (p.Tyr355MetfsTer3) | ClinVar |
7 | g.117540201C>A | CA368978554 | CFTR | c.971C>A (p.Pro324His) c.*868C>A (n.*868C>A) c.*795C>A (n.*795C>A) c.728C>A (p.Pro243His) c.881C>A (p.Pro294His) c.1061C>A (p.Pro354His) | |
7 | g.117540201C= | CA1737332003 | CFTR | c.971C= (p.Pro324=) c.*868C= (n.*868C=) c.*795C= (n.*795C=) c.728C= (p.Pro243=) c.881C= (p.Pro294=) c.1061C= (p.Pro354=) | |
7 | g.117540201C>G | CA368978556 | CFTR | c.971C>G (p.Pro324Arg) c.*868C>G (n.*868C>G) c.*795C>G (n.*795C>G) c.728C>G (p.Pro243Arg) c.881C>G (p.Pro294Arg) c.1061C>G (p.Pro354Arg) | |
7 | g.117540201C>T | CA327705 | CFTR | c.971C>T (p.Pro324Leu) c.*868C>T (n.*868C>T) c.*795C>T (n.*795C>T) c.728C>T (p.Pro243Leu) c.881C>T (p.Pro294Leu) c.1061C>T (p.Pro354Leu) | ClinVar dbSNP gnomAD v4 |
7 | g.117540202C>A | CA457448663 | CFTR | c.972C>A (p.Pro324=) c.*869C>A (n.*869C>A) c.*796C>A (n.*796C>A) c.729C>A (p.Pro243=) c.882C>A (p.Pro294=) c.1062C>A (p.Pro354=) | |
7 | g.117540202C= | CA1737332010 | CFTR | c.972C= (p.Pro324=) c.*869C= (n.*869C=) c.*796C= (n.*796C=) c.729C= (p.Pro243=) c.882C= (p.Pro294=) c.1062C= (p.Pro354=) | |
7 | g.117540202C>G | CA4450872 | CFTR | c.972C>G (p.Pro324=) c.*869C>G (n.*869C>G) c.*796C>G (n.*796C>G) c.729C>G (p.Pro243=) c.882C>G (p.Pro294=) c.1062C>G (p.Pro354=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117540202C>T | CA457448664 | CFTR | c.972C>T (p.Pro324=) c.*869C>T (n.*869C>T) c.*796C>T (n.*796C>T) c.729C>T (p.Pro243=) c.882C>T (p.Pro294=) c.1062C>T (p.Pro354=) | ClinVar |
7 | g.117540203T>A | CA368978567 | CFTR | c.973T>A (p.Tyr325Asn) c.*870T>A (n.*870T>A) c.*797T>A (n.*797T>A) c.730T>A (p.Tyr244Asn) c.883T>A (p.Tyr295Asn) c.1063T>A (p.Tyr355Asn) | |
7 | g.117540203T>C | CA368978561 | CFTR | c.973T>C (p.Tyr325His) c.*870T>C (n.*870T>C) c.*797T>C (n.*797T>C) c.730T>C (p.Tyr244His) c.883T>C (p.Tyr295His) c.1063T>C (p.Tyr355His) | |
7 | g.117540203T>G | CA368978566 | CFTR | c.973T>G (p.Tyr325Asp) c.*870T>G (n.*870T>G) c.*797T>G (n.*797T>G) c.730T>G (p.Tyr244Asp) c.883T>G (p.Tyr295Asp) c.1063T>G (p.Tyr355Asp) | |
7 | g.117540204A= | CA1737332019 | CFTR | c.974A= (p.Tyr325=) c.*871A= (n.*871A=) c.*798A= (n.*798A=) c.731A= (p.Tyr244=) c.884A= (p.Tyr295=) c.1064A= (p.Tyr355=) | |
7 | g.117540204A>C | CA368978568 | CFTR | c.974A>C (p.Tyr325Ser) c.*871A>C (n.*871A>C) c.*798A>C (n.*798A>C) c.731A>C (p.Tyr244Ser) c.884A>C (p.Tyr295Ser) c.1064A>C (p.Tyr355Ser) | |
7 | g.117540204A>G | CA4450873 | CFTR | c.974A>G (p.Tyr325Cys) c.*871A>G (n.*871A>G) c.*798A>G (n.*798A>G) c.731A>G (p.Tyr244Cys) c.884A>G (p.Tyr295Cys) c.1064A>G (p.Tyr355Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117540204A>T | CA368978578 | CFTR | c.974A>T (p.Tyr325Phe) c.*871A>T (n.*871A>T) c.*798A>T (n.*798A>T) c.731A>T (p.Tyr244Phe) c.884A>T (p.Tyr295Phe) c.1064A>T (p.Tyr355Phe) | |
7 | g.117540205T>A | CA368978581 | CFTR | c.975T>A (p.Tyr325Ter) c.*872T>A (n.*872T>A) c.*799T>A (n.*799T>A) c.732T>A (p.Tyr244Ter) c.885T>A (p.Tyr295Ter) c.1065T>A (p.Tyr355Ter) | |
7 | g.117540205T>C | CA457448668 | CFTR | c.975T>C (p.Tyr325=) c.*872T>C (n.*872T>C) c.*799T>C (n.*799T>C) c.732T>C (p.Tyr244=) c.885T>C (p.Tyr295=) c.1065T>C (p.Tyr355=) | |
7 | g.117540205T>G | CA368978586 | CFTR | c.975T>G (p.Tyr325Ter) c.*872T>G (n.*872T>G) c.*799T>G (n.*799T>G) c.732T>G (p.Tyr244Ter) c.885T>G (p.Tyr295Ter) c.1065T>G (p.Tyr355Ter) | |
7 | g.117540206G>A | CA368978589 | CFTR | c.976G>A (p.Ala326Thr) c.*873G>A (n.*873G>A) c.*800G>A (n.*800G>A) c.733G>A (p.Ala245Thr) c.886G>A (p.Ala296Thr) c.1066G>A (p.Ala356Thr) | |
7 | g.117540206G>C | CA368978590 | CFTR | c.976G>C (p.Ala326Pro) c.*873G>C (n.*873G>C) c.*800G>C (n.*800G>C) c.733G>C (p.Ala245Pro) c.886G>C (p.Ala296Pro) c.1066G>C (p.Ala356Pro) | |
7 | g.117540206G>T | CA368978591 | CFTR | c.976G>T (p.Ala326Ser) c.*873G>T (n.*873G>T) c.*800G>T (n.*800G>T) c.733G>T (p.Ala245Ser) c.886G>T (p.Ala296Ser) c.1066G>T (p.Ala356Ser) | ClinVar |
7 | g.117540207C>A | CA368978595 | CFTR | c.977C>A (p.Ala326Glu) c.*874C>A (n.*874C>A) c.*801C>A (n.*801C>A) c.734C>A (p.Ala245Glu) c.887C>A (p.Ala296Glu) c.1067C>A (p.Ala356Glu) | |
7 | g.117540207C= | CA1737332027 | CFTR | c.977C= (p.Ala326=) c.*874C= (n.*874C=) c.*801C= (n.*801C=) c.734C= (p.Ala245=) c.887C= (p.Ala296=) c.1067C= (p.Ala356=) | |
7 | g.117540207C>G | CA368978599 | CFTR | c.977C>G (p.Ala326Gly) c.*874C>G (n.*874C>G) c.*801C>G (n.*801C>G) c.734C>G (p.Ala245Gly) c.887C>G (p.Ala296Gly) c.1067C>G (p.Ala356Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117540207C>T | CA368978601 | CFTR | c.977C>T (p.Ala326Val) c.*874C>T (n.*874C>T) c.*801C>T (n.*801C>T) c.734C>T (p.Ala245Val) c.887C>T (p.Ala296Val) c.1067C>T (p.Ala356Val) | ClinVar dbSNP |
7 | g.117540208A= | CA1737332034 | CFTR | c.978A= (p.Ala326=) c.*875A= (n.*875A=) c.*802A= (n.*802A=) c.735A= (p.Ala245=) c.888A= (p.Ala296=) c.1068A= (p.Ala356=) | |
7 | g.117540208A>C | CA457448672 | CFTR | c.978A>C (p.Ala326=) c.*875A>C (n.*875A>C) c.*802A>C (n.*802A>C) c.735A>C (p.Ala245=) c.888A>C (p.Ala296=) c.1068A>C (p.Ala356=) | |
7 | g.117540208A>G | CA4450874 | CFTR | c.978A>G (p.Ala326=) c.*875A>G (n.*875A>G) c.*802A>G (n.*802A>G) c.735A>G (p.Ala245=) c.888A>G (p.Ala296=) c.1068A>G (p.Ala356=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117540208A>T | CA457448673 | CFTR | c.978A>T (p.Ala326=) c.*875A>T (n.*875A>T) c.*802A>T (n.*802A>T) c.735A>T (p.Ala245=) c.888A>T (p.Ala296=) c.1068A>T (p.Ala356=) | ClinVar |
7 | g.117540209C>A | CA368978604 | CFTR | c.979C>A (p.Leu327Ile) c.*876C>A (n.*876C>A) c.*803C>A (n.*803C>A) c.736C>A (p.Leu246Ile) c.889C>A (p.Leu297Ile) c.1069C>A (p.Leu357Ile) | |
7 | g.117540209C= | CA1737332044 | CFTR | c.979C= (p.Leu327=) c.*876C= (n.*876C=) c.*803C= (n.*803C=) c.736C= (p.Leu246=) c.889C= (p.Leu297=) c.1069C= (p.Leu357=) | |
7 | g.117540209C>G | CA368978605 | CFTR | c.979C>G (p.Leu327Val) c.*876C>G (n.*876C>G) c.*803C>G (n.*803C>G) c.736C>G (p.Leu246Val) c.889C>G (p.Leu297Val) c.1069C>G (p.Leu357Val) | ClinVar gnomAD v4 |
7 | g.117540209C>T | CA457448730 | CFTR | c.979C>T (p.Leu327=) c.*876C>T (n.*876C>T) c.*803C>T (n.*803C>T) c.736C>T (p.Leu246=) c.889C>T (p.Leu297=) c.1069C>T (p.Leu357=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117540209_117540210delinsCT | CA1737332040 | CFTR | c.979_980delinsCT (p.Leu327=) c.*876_*877delinsCT (n.*876_*877delinsCT) c.*803_*804delinsCT (n.*803_*804delinsCT) c.736_737delinsCT (p.Leu246=) c.889_890delinsCT (p.Leu297=) c.1069_1070delinsCT (p.Leu357=) | |
7 | g.117540210del | CA327707 | CFTR | c.980del (p.Leu327GlnfsTer?) c.*877del (n.*877del) c.*804del (n.*804del) c.737del (p.Leu246GlnfsTer?) c.890del (p.Leu297GlnfsTer?) c.1070del (p.Leu357GlnfsTer?) | ClinVar dbSNP |
7 | g.117540210T>A | CA368978606 | CFTR | c.980T>A (p.Leu327Gln) c.*877T>A (n.*877T>A) c.*804T>A (n.*804T>A) c.737T>A (p.Leu246Gln) c.890T>A (p.Leu297Gln) c.1070T>A (p.Leu357Gln) | |
7 | g.117540210T>C | CA368978608 | CFTR | c.980T>C (p.Leu327Pro) c.*877T>C (n.*877T>C) c.*804T>C (n.*804T>C) c.737T>C (p.Leu246Pro) c.890T>C (p.Leu297Pro) c.1070T>C (p.Leu357Pro) | ClinVar gnomAD v4 |
7 | g.117540210T>G | CA4450875 | CFTR | c.980T>G (p.Leu327Arg) c.*877T>G (n.*877T>G) c.*804T>G (n.*804T>G) c.737T>G (p.Leu246Arg) c.890T>G (p.Leu297Arg) c.1070T>G (p.Leu357Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117540210T= | CA1737332058 | CFTR | c.980T= (p.Leu327=) c.*877T= (n.*877T=) c.*804T= (n.*804T=) c.737T= (p.Leu246=) c.890T= (p.Leu297=) c.1070T= (p.Leu357=) | |
7 | g.117540211A= | CA1737332069 | CFTR | c.981A= (p.Leu327=) c.*878A= (n.*878A=) c.*805A= (n.*805A=) c.738A= (p.Leu246=) c.891A= (p.Leu297=) c.1071A= (p.Leu357=) | |
7 | g.117540211A>C | CA457448731 | CFTR | c.981A>C (p.Leu327=) c.*878A>C (n.*878A>C) c.*805A>C (n.*805A>C) c.738A>C (p.Leu246=) c.891A>C (p.Leu297=) c.1071A>C (p.Leu357=) | |
7 | g.117540211A>G | CA164953673 | CFTR | c.981A>G (p.Leu327=) c.*878A>G (n.*878A>G) c.*805A>G (n.*805A>G) c.738A>G (p.Leu246=) c.891A>G (p.Leu297=) c.1071A>G (p.Leu357=) | dbSNP |
7 | g.117540211A>T | CA164953674 | CFTR | c.981A>T (p.Leu327=) c.*878A>T (n.*878A>T) c.*805A>T (n.*805A>T) c.738A>T (p.Leu246=) c.891A>T (p.Leu297=) c.1071A>T (p.Leu357=) | ClinVar dbSNP gnomAD v4 |
7 | g.117540212A>C | CA368978614 | CFTR | c.982A>C (p.Ile328Leu) c.*879A>C (n.*879A>C) c.*806A>C (n.*806A>C) c.739A>C (p.Ile247Leu) c.892A>C (p.Ile298Leu) c.1072A>C (p.Ile358Leu) | |
7 | g.117540212A>G | CA368978616 | CFTR | c.982A>G (p.Ile328Val) c.*879A>G (n.*879A>G) c.*806A>G (n.*806A>G) c.739A>G (p.Ile247Val) c.892A>G (p.Ile298Val) c.1072A>G (p.Ile358Val) | |
7 | g.117540212A>T | CA368978618 | CFTR | c.982A>T (p.Ile328Phe) c.*879A>T (n.*879A>T) c.*806A>T (n.*806A>T) c.739A>T (p.Ile247Phe) c.892A>T (p.Ile298Phe) c.1072A>T (p.Ile358Phe) |