| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117527502_117531824del | CA2580076333 | CFTR | c.274-3397_489+710del c.*171-3397_*386+710del c.*98-3397_*313+710del c.31-3397_246+710del c.364-3397_579+710del | ClinVar |
| 7 | g.117530896_117531112delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA | CA1737359079 | CFTR | c.274-3_487delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA c.*171-3_*384delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA c.*98-3_*311delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA c.31-3_244delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA c.364-3_577delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA | |
| 7 | g.117530900_117531115del | CA913189986 | CFTR | c.275_489+1del c.*172_*386+1del c.*99_*313+1del c.32_246+1del c.365_579+1del | ClinVar dbSNP |
| 7 | g.117530900_117534366del | CA913189987 | CFTR | c.275_579+1del c.*172_*476+1del c.*99_*403+1del c.32_336+1del c.275_490-882del c.365_669+1del | ClinVar |
| 7 | g.117530966_117530978del | CA2695208294 | CFTR | c.341_353del (p.Lys114IlefsTer6) c.*238_*250del (n.*238_*250del) c.*165_*177del (n.*165_*177del) c.98_110del (p.Lys33IlefsTer6) c.98_110del (p.Lys33=) c.431_443del (p.Lys144IlefsTer6) | |
| 7 | g.117530975G>A | CA221026 | CFTR | c.350G>A (p.Arg117His) c.*247G>A (n.*247G>A) c.*174G>A (n.*174G>A) c.107G>A (p.Arg36His) c.440G>A (p.Arg147His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.[117530975G>A;117548635del] | CA353800 | CFTR | c.[350G>A;1210-6del] (p.Arg117His) c.[*247G>A;*1106+6527del] (n.[*247G>A;*1106+6527del]) c.[350G>A;1209+6527del] (p.Arg117His) c.[*174G>A;*1034-6del] (n.[*174G>A;*1034-6del]) c.[107G>A;966+6527del] (p.Arg36His) c.[107G>A;967-6del] (p.Arg36His) c.[350G>A;1120-6del] (p.Arg117His) c.[440G>A;1300-6del] (p.Arg147His) | |
| 7 | g.[117530975G>A;117548634_117548635del] | CA891862588 | CFTR | c.[350G>A;1210-7_1210-6del] (p.Arg117His) c.[*247G>A;*1106+6526_*1106+6527del] (n.[*247G>A;*1106+6526_*1106+6527del]) c.[350G>A;1209+6526_1209+6527del] (p.Arg117His) c.[*174G>A;*1034-7_*1034-6del] (n.[*174G>A;*1034-7_*1034-6del]) c.[107G>A;966+6526_966+6527del] (p.Arg36His) c.[107G>A;967-7_967-6del] (p.Arg36His) c.[350G>A;1120-7_1120-6del] (p.Arg117His) c.[440G>A;1300-7_1300-6del] (p.Arg147His) | ClinVar |
| 7 | g.117530975G>C | CA327221 | CFTR | c.350G>C (p.Arg117Pro) c.*247G>C (n.*247G>C) c.*174G>C (n.*174G>C) c.107G>C (p.Arg36Pro) c.440G>C (p.Arg147Pro) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117530975G= | CA1737359376 | CFTR | c.350G= (p.Arg117=) c.*247G= (n.*247G=) c.*174G= (n.*174G=) c.107G= (p.Arg36=) c.440G= (p.Arg147=) | |
| 7 | g.117530975G>T | CA327222 | CFTR | c.350G>T (p.Arg117Leu) c.*247G>T (n.*247G>T) c.*174G>T (n.*174G>T) c.107G>T (p.Arg36Leu) c.440G>T (p.Arg147Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530975delinsTA | CA2573105981 | CFTR | c.350delinsTA (p.Arg117LeufsTer?) c.*247delinsTA (n.*247delinsTA) c.*174delinsTA (n.*174delinsTA) c.107delinsTA (p.Arg36LeufsTer?) c.440delinsTA (p.Arg147LeufsTer?) | |
| 7 | g.117530976C>A | CA457448616 | CFTR | c.351C>A (p.Arg117=) c.*248C>A (n.*248C>A) c.*175C>A (n.*175C>A) c.108C>A (p.Arg36=) c.441C>A (p.Arg147=) | |
| 7 | g.117530976C= | CA2740130076 | CFTR | c.351C= (p.Arg117=) c.*248C= (n.*248C=) c.*175C= (n.*175C=) c.108C= (p.Arg36=) c.441C= (p.Arg147=) | |
| 7 | g.117530976C>G | CA457448618 | CFTR | c.351C>G (p.Arg117=) c.*248C>G (n.*248C>G) c.*175C>G (n.*175C>G) c.108C>G (p.Arg36=) c.441C>G (p.Arg147=) | |
| 7 | g.117530976C>T | CA457448619 | CFTR | c.351C>T (p.Arg117=) c.*248C>T (n.*248C>T) c.*175C>T (n.*175C>T) c.108C>T (p.Arg36=) c.441C>T (p.Arg147=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117530977T>A | CA368974456 | CFTR | c.352T>A (p.Ser118Thr) c.*249T>A (n.*249T>A) c.*176T>A (n.*176T>A) c.109T>A (p.Ser37Thr) c.109T>A c.442T>A (p.Ser148Thr) | |
| 7 | g.117530977T>C | CA368974457 | CFTR | c.352T>C (p.Ser118Pro) c.*249T>C (n.*249T>C) c.*176T>C (n.*176T>C) c.109T>C (p.Ser37Pro) c.109T>C c.442T>C (p.Ser148Pro) | |
| 7 | g.117530977T>G | CA368974458 | CFTR | c.352T>G (p.Ser118Ala) c.*249T>G (n.*249T>G) c.*176T>G (n.*176T>G) c.109T>G (p.Ser37Ala) c.109T>G c.442T>G (p.Ser148Ala) | |
| 7 | g.117530977T= | CA1737359382 | CFTR | c.352T= (p.Ser118=) c.*249T= (n.*249T=) c.*176T= (n.*176T=) c.109T= (p.Ser37=) c.109T= c.442T= (p.Ser148=) | |
| 7 | g.117530978C>A | CA368974459 | CFTR | c.353C>A (p.Ser118Tyr) c.*250C>A (n.*250C>A) c.*177C>A (n.*177C>A) c.110C>A (p.Ser37Tyr) c.110C>A c.443C>A (p.Ser148Tyr) | |
| 7 | g.117530978C= | CA1737359386 | CFTR | c.353C= (p.Ser118=) c.*250C= (n.*250C=) c.*177C= (n.*177C=) c.110C= (p.Ser37=) c.110C= c.443C= (p.Ser148=) | |
| 7 | g.117530978C>G | CA368974461 | CFTR | c.353C>G (p.Ser118Cys) c.*250C>G (n.*250C>G) c.*177C>G (n.*177C>G) c.110C>G (p.Ser37Cys) c.110C>G c.443C>G (p.Ser148Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117530978C>T | CA368974463 | CFTR | c.353C>T (p.Ser118Phe) c.*250C>T (n.*250C>T) c.*177C>T (n.*177C>T) c.110C>T (p.Ser37Phe) c.110C>T c.443C>T (p.Ser148Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117530978dup | CA164943706 | CFTR | c.353dup (p.Ile119TyrfsTer?) c.*250dup (n.*250dup) c.*177dup (n.*177dup) c.110dup (p.Ile38TyrfsTer?) c.443dup (p.Ile149TyrfsTer?) | dbSNP |
| 7 | g.117530979T>A | CA457448622 | CFTR | c.354T>A (p.Ser118=) c.*251T>A (n.*251T>A) c.*178T>A (n.*178T>A) c.111T>A (p.Ser37=) c.444T>A (p.Ser148=) | ClinVar |
| 7 | g.117530979T>C | CA457448624 | CFTR | c.354T>C (p.Ser118=) c.*251T>C (n.*251T>C) c.*178T>C (n.*178T>C) c.111T>C (p.Ser37=) c.444T>C (p.Ser148=) | ClinVar dbSNP |
| 7 | g.117530979T>G | CA457448621 | CFTR | c.354T>G (p.Ser118=) c.*251T>G (n.*251T>G) c.*178T>G (n.*178T>G) c.111T>G (p.Ser37=) c.444T>G (p.Ser148=) | |
| 7 | g.117530979dup | CA2582341941 | CFTR | c.354dup (p.Ile119TyrfsTer?) c.*251dup (n.*251dup) c.*178dup (n.*178dup) c.111dup (p.Ile38TyrfsTer?) c.444dup (p.Ile149TyrfsTer?) | ClinVar |
| 7 | g.117530980A= | CA1737359390 | CFTR | c.355A= (p.Ile119=) c.*252A= (n.*252A=) c.*179A= (n.*179A=) c.112A= (p.Ile38=) c.445A= (p.Ile149=) | |
| 7 | g.117530980A>C | CA368974467 | CFTR | c.355A>C (p.Ile119Leu) c.*252A>C (n.*252A>C) c.*179A>C (n.*179A>C) c.112A>C (p.Ile38Leu) c.445A>C (p.Ile149Leu) | gnomAD v4 |
| 7 | g.117530980A>G | CA260237 | CFTR | c.355A>G (p.Ile119Val) c.*252A>G (n.*252A>G) c.*179A>G (n.*179A>G) c.112A>G (p.Ile38Val) c.445A>G (p.Ile149Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530980A>T | CA368974464 | CFTR | c.355A>T (p.Ile119Phe) c.*252A>T (n.*252A>T) c.*179A>T (n.*179A>T) c.112A>T (p.Ile38Phe) c.445A>T (p.Ile149Phe) | |
| 7 | g.117530981T>A | CA368974468 | CFTR | c.356T>A (p.Ile119Asn) c.*253T>A (n.*253T>A) c.*180T>A (n.*180T>A) c.113T>A (p.Ile38Asn) c.446T>A (p.Ile149Asn) | ClinVar |
| 7 | g.117530981T>C | CA368974470 | CFTR | c.356T>C (p.Ile119Thr) c.*253T>C (n.*253T>C) c.*180T>C (n.*180T>C) c.113T>C (p.Ile38Thr) c.446T>C (p.Ile149Thr) | |
| 7 | g.117530981T>G | CA368974471 | CFTR | c.356T>G (p.Ile119Ser) c.*253T>G (n.*253T>G) c.*180T>G (n.*180T>G) c.113T>G (p.Ile38Ser) c.446T>G (p.Ile149Ser) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117530981_117530982delinsTC | CA1737359394 | CFTR | c.356_357delinsTC (p.Ile119=) c.*253_*254delinsTC (n.*253_*254delinsTC) c.*180_*181delinsTC (n.*180_*181delinsTC) c.113_114delinsTC (p.Ile38=) c.446_447delinsTC (p.Ile149=) | |
| 7 | g.117530982del | CA327232 | CFTR | c.357del (p.Ile119MetfsTer5) c.*254del (n.*254del) c.*181del (n.*181del) c.114del (p.Ile38MetfsTer5) c.447del (p.Ile149MetfsTer5) | dbSNP |
| 7 | g.117530982C>A | CA457448627 | CFTR | c.357C>A (p.Ile119=) c.*254C>A (n.*254C>A) c.*181C>A (n.*181C>A) c.114C>A (p.Ile38=) c.447C>A (p.Ile149=) | ClinVar dbSNP |
| 7 | g.117530982C= | CA1737359399 | CFTR | c.357C= (p.Ile119=) c.*254C= (n.*254C=) c.*181C= (n.*181C=) c.114C= (p.Ile38=) c.447C= (p.Ile149=) | |
| 7 | g.117530982C>G | CA368974473 | CFTR | c.357C>G (p.Ile119Met) c.*254C>G (n.*254C>G) c.*181C>G (n.*181C>G) c.114C>G (p.Ile38Met) c.447C>G (p.Ile149Met) | gnomAD v4 COSMIC |
| 7 | g.117530982C>T | CA457448628 | CFTR | c.357C>T (p.Ile119=) c.*254C>T (n.*254C>T) c.*181C>T (n.*181C>T) c.114C>T (p.Ile38=) c.447C>T (p.Ile149=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530983G>A | CA327235 | CFTR | c.358G>A (p.Ala120Thr) c.*255G>A (n.*255G>A) c.*182G>A (n.*182G>A) c.115G>A (p.Ala39Thr) c.448G>A (p.Ala150Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117530983G>C | CA368974475 | CFTR | c.358G>C (p.Ala120Pro) c.*255G>C (n.*255G>C) c.*182G>C (n.*182G>C) c.115G>C (p.Ala39Pro) c.448G>C (p.Ala150Pro) | dbSNP |
| 7 | g.117530983G= | CA1737359403 | CFTR | c.358G= (p.Ala120=) c.*255G= (n.*255G=) c.*182G= (n.*182G=) c.115G= (p.Ala39=) c.448G= (p.Ala150=) | |
| 7 | g.117530983G>T | CA4450712 | CFTR | c.358G>T (p.Ala120Ser) c.*255G>T (n.*255G>T) c.*182G>T (n.*182G>T) c.115G>T (p.Ala39Ser) c.448G>T (p.Ala150Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117530984C>A | CA368974478 | CFTR | c.359C>A (p.Ala120Glu) c.*256C>A (n.*256C>A) c.*183C>A (n.*183C>A) c.116C>A (p.Ala39Glu) c.449C>A (p.Ala150Glu) | |
| 7 | g.117530984C= | CA1737359412 | CFTR | c.359C= (p.Ala120=) c.*256C= (n.*256C=) c.*183C= (n.*183C=) c.116C= (p.Ala39=) c.449C= (p.Ala150=) | |
| 7 | g.117530984C>G | CA368974479 | CFTR | c.359C>G (p.Ala120Gly) c.*256C>G (n.*256C>G) c.*183C>G (n.*183C>G) c.116C>G (p.Ala39Gly) c.449C>G (p.Ala150Gly) | |
| 7 | g.117530984C>T | CA368974481 | CFTR | c.359C>T (p.Ala120Val) c.*256C>T (n.*256C>T) c.*183C>T (n.*183C>T) c.116C>T (p.Ala39Val) c.449C>T (p.Ala150Val) | ClinVar dbSNP gnomAD v4 |