UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117535222G>A | CA651895349 | CFTR | c.580-26G>A (n.580-26G>A) c.*477-26G>A (n.*477-26G>A) c.*404-26G>A (n.*404-26G>A) c.337-26G>A (n.337-26G>A) c.490-26G>A (n.490-26G>A) c.670-26G>A (n.670-26G>A) | COSMIC |
| 7 | g.117535225T>A | CA577680158 | CFTR | c.580-23T>A (n.580-23T>A) c.*477-23T>A (n.*477-23T>A) c.*404-23T>A (n.*404-23T>A) c.337-23T>A (n.337-23T>A) c.490-23T>A (n.490-23T>A) c.670-23T>A (n.670-23T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117535225T= | CA1737362091 | CFTR | c.580-23T= (n.580-23T=) c.*477-23T= (n.*477-23T=) c.*404-23T= (n.*404-23T=) c.337-23T= (n.337-23T=) c.490-23T= (n.490-23T=) c.670-23T= (n.670-23T=) | |
| 7 | g.117535226T>C | CA2684617651 | CFTR | c.580-22T>C (n.580-22T>C) c.*477-22T>C (n.*477-22T>C) c.*404-22T>C (n.*404-22T>C) c.337-22T>C (n.337-22T>C) c.490-22T>C (n.490-22T>C) c.670-22T>C (n.670-22T>C) | gnomAD v4 |
| 7 | g.117535228G>T | CA2684617652 | CFTR | c.580-20G>T (n.580-20G>T) c.*477-20G>T (n.*477-20G>T) c.*404-20G>T (n.*404-20G>T) c.337-20G>T (n.337-20G>T) c.490-20G>T (n.490-20G>T) c.670-20G>T (n.670-20G>T) | gnomAD v4 |
| 7 | g.117535229C= | CA1737362092 | CFTR | c.580-19C= (n.580-19C=) c.*477-19C= (n.*477-19C=) c.*404-19C= (n.*404-19C=) c.337-19C= (n.337-19C=) c.490-19C= (n.490-19C=) c.670-19C= (n.670-19C=) | |
| 7 | g.117535229C>T | CA1106309171 | CFTR | c.580-19C>T (n.580-19C>T) c.*477-19C>T (n.*477-19C>T) c.*404-19C>T (n.*404-19C>T) c.337-19C>T (n.337-19C>T) c.490-19C>T (n.490-19C>T) c.670-19C>T (n.670-19C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117535230T>C | CA4450774 | CFTR | c.580-18T>C (n.580-18T>C) c.*477-18T>C (n.*477-18T>C) c.*404-18T>C (n.*404-18T>C) c.337-18T>C (n.337-18T>C) c.490-18T>C (n.490-18T>C) c.670-18T>C (n.670-18T>C) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 7 | g.117535230T= | CA1737362093 | CFTR | c.580-18T= (n.580-18T=) c.*477-18T= (n.*477-18T=) c.*404-18T= (n.*404-18T=) c.337-18T= (n.337-18T=) c.490-18T= (n.490-18T=) c.670-18T= (n.670-18T=) | |
| 7 | g.117535233G= | CA1737362094 | CFTR | c.580-15G= (n.580-15G=) c.*477-15G= (n.*477-15G=) c.*404-15G= (n.*404-15G=) c.337-15G= (n.337-15G=) c.490-15G= (n.490-15G=) c.670-15G= (n.670-15G=) | |
| 7 | g.117535233G>T | CA4450775 | CFTR | c.580-15G>T (n.580-15G>T) c.*477-15G>T (n.*477-15G>T) c.*404-15G>T (n.*404-15G>T) c.337-15G>T (n.337-15G>T) c.490-15G>T (n.490-15G>T) c.670-15G>T (n.670-15G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535234C>A | CA2684617653 | CFTR | c.580-14C>A (n.580-14C>A) c.*477-14C>A (n.*477-14C>A) c.*404-14C>A (n.*404-14C>A) c.337-14C>A (n.337-14C>A) c.490-14C>A (n.490-14C>A) c.670-14C>A (n.670-14C>A) | ClinVar gnomAD v4 |
| 7 | g.117535234C>T | CA2684617654 | CFTR | c.580-14C>T (n.580-14C>T) c.*477-14C>T (n.*477-14C>T) c.*404-14C>T (n.*404-14C>T) c.337-14C>T (n.337-14C>T) c.490-14C>T (n.490-14C>T) c.670-14C>T (n.670-14C>T) | gnomAD v4 |
| 7 | g.117535239A= | CA1737362095 | CFTR | c.580-9A= (n.580-9A=) c.*477-9A= (n.*477-9A=) c.*404-9A= (n.*404-9A=) c.337-9A= (n.337-9A=) c.490-9A= (n.490-9A=) c.670-9A= (n.670-9A=) | |
| 7 | g.117535239A>G | CA915945460 | CFTR | c.580-9A>G (n.580-9A>G) c.*477-9A>G (n.*477-9A>G) c.*404-9A>G (n.*404-9A>G) c.337-9A>G (n.337-9A>G) c.490-9A>G (n.490-9A>G) c.670-9A>G (n.670-9A>G) | ClinVar dbSNP |
| 7 | g.117535240T>G | CA577680161 | CFTR | c.580-8T>G (n.580-8T>G) c.*477-8T>G (n.*477-8T>G) c.*404-8T>G (n.*404-8T>G) c.337-8T>G (n.337-8T>G) c.490-8T>G (n.490-8T>G) c.670-8T>G (n.670-8T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117535240T= | CA1737362096 | CFTR | c.580-8T= (n.580-8T=) c.*477-8T= (n.*477-8T=) c.*404-8T= (n.*404-8T=) c.337-8T= (n.337-8T=) c.490-8T= (n.490-8T=) c.670-8T= (n.670-8T=) | |
| 7 | g.117535241T>G | CA4450776 | CFTR | c.580-7T>G (n.580-7T>G) c.*477-7T>G (n.*477-7T>G) c.*404-7T>G (n.*404-7T>G) c.337-7T>G (n.337-7T>G) c.490-7T>G (n.490-7T>G) c.670-7T>G (n.670-7T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117535241T= | CA1737362097 | CFTR | c.580-7T= (n.580-7T=) c.*477-7T= (n.*477-7T=) c.*404-7T= (n.*404-7T=) c.337-7T= (n.337-7T=) c.490-7T= (n.490-7T=) c.670-7T= (n.670-7T=) | |
| 7 | g.117535243T>C | CA164945360 | CFTR | c.580-5T>C (n.580-5T>C) c.*477-5T>C (n.*477-5T>C) c.*404-5T>C (n.*404-5T>C) c.337-5T>C (n.337-5T>C) c.490-5T>C (n.490-5T>C) c.670-5T>C (n.670-5T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117535243T= | CA1737362098 | CFTR | c.580-5T= (n.580-5T=) c.*477-5T= (n.*477-5T=) c.*404-5T= (n.*404-5T=) c.337-5T= (n.337-5T=) c.490-5T= (n.490-5T=) c.670-5T= (n.670-5T=) | |
| 7 | g.117535244C= | CA1737362099 | CFTR | c.580-4C= (n.580-4C=) c.*477-4C= (n.*477-4C=) c.*404-4C= (n.*404-4C=) c.337-4C= (n.337-4C=) c.490-4C= (n.490-4C=) c.670-4C= (n.670-4C=) | |
| 7 | g.117535244C>T | CA577680162 | CFTR | c.580-4C>T (n.580-4C>T) c.*477-4C>T (n.*477-4C>T) c.*404-4C>T (n.*404-4C>T) c.337-4C>T (n.337-4C>T) c.490-4C>T (n.490-4C>T) c.670-4C>T (n.670-4C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117535245C>T | CA2573141553 | CFTR | c.580-3C>T (n.580-3C>T) c.*477-3C>T (n.*477-3C>T) c.*404-3C>T (n.*404-3C>T) c.337-3C>T (n.337-3C>T) c.490-3C>T (n.490-3C>T) c.670-3C>T (n.670-3C>T) | ClinVar dbSNP |
| 7 | g.117535246A= | CA1737362100 | CFTR | c.580-2A= (n.580-2A=) c.*477-2A= (n.*477-2A=) c.*404-2A= (n.*404-2A=) c.337-2A= (n.337-2A=) c.490-2A= (n.490-2A=) c.670-2A= (n.670-2A=) | |
| 7 | g.117535246A>C | CA368976686 | CFTR | c.580-2A>C (n.580-2A>C) c.*477-2A>C (n.*477-2A>C) c.*404-2A>C (n.*404-2A>C) c.337-2A>C (n.337-2A>C) c.490-2A>C (n.490-2A>C) c.670-2A>C (n.670-2A>C) | ClinVar dbSNP |
| 7 | g.117535246A>G | CA4450777 | CFTR | c.580-2A>G (n.580-2A>G) c.*477-2A>G (n.*477-2A>G) c.*404-2A>G (n.*404-2A>G) c.337-2A>G (n.337-2A>G) c.490-2A>G (n.490-2A>G) c.670-2A>G (n.670-2A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117535246A>T | CA368976689 | CFTR | c.580-2A>T (n.580-2A>T) c.*477-2A>T (n.*477-2A>T) c.*404-2A>T (n.*404-2A>T) c.337-2A>T (n.337-2A>T) c.490-2A>T (n.490-2A>T) c.670-2A>T (n.670-2A>T) | |
| 7 | g.117535247G>A | CA368976692 | CFTR | c.580-1G>A (n.580-1G>A) c.*477-1G>A (n.*477-1G>A) c.*404-1G>A (n.*404-1G>A) c.337-1G>A (n.337-1G>A) c.490-1G>A (n.490-1G>A) c.670-1G>A (n.670-1G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117535247G>C | CA368976694 | CFTR | c.580-1G>C (n.580-1G>C) c.*477-1G>C (n.*477-1G>C) c.*404-1G>C (n.*404-1G>C) c.337-1G>C (n.337-1G>C) c.490-1G>C (n.490-1G>C) c.670-1G>C (n.670-1G>C) | |
| 7 | g.117535247G= | CA1737362101 | CFTR | c.580-1G= (n.580-1G=) c.*477-1G= (n.*477-1G=) c.*404-1G= (n.*404-1G=) c.337-1G= (n.337-1G=) c.490-1G= (n.490-1G=) c.670-1G= (n.670-1G=) | |
| 7 | g.117535247G>T | CA328128 | CFTR | c.580-1G>T (n.580-1G>T) c.*477-1G>T (n.*477-1G>T) c.*404-1G>T (n.*404-1G>T) c.337-1G>T (n.337-1G>T) c.490-1G>T (n.490-1G>T) c.670-1G>T (n.670-1G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117535248G>A | CA164945384 | CFTR | c.580G>A (p.Gly194Arg) c.*477G>A (n.*477G>A) c.*404G>A (n.*404G>A) c.337G>A (p.Gly113Arg) c.490G>A (p.Gly164Arg) c.670G>A (p.Gly224Arg) | ClinVar dbSNP |
| 7 | g.117535248G>C | CA368976697 | CFTR | c.580G>C (p.Gly194Arg) c.*477G>C (n.*477G>C) c.*404G>C (n.*404G>C) c.337G>C (p.Gly113Arg) c.490G>C (p.Gly164Arg) c.670G>C (p.Gly224Arg) | ClinVar |
| 7 | g.117535248G= | CA1737362102 | CFTR | c.580G= (p.Gly194=) c.*477G= (n.*477G=) c.*404G= (n.*404G=) c.337G= (p.Gly113=) c.490G= (p.Gly164=) c.670G= (p.Gly224=) | |
| 7 | g.117535248G>T | CA368976699 | CFTR | c.580G>T (p.Gly194Ter) c.*477G>T (n.*477G>T) c.*404G>T (n.*404G>T) c.337G>T (p.Gly113Ter) c.490G>T (p.Gly164Ter) c.670G>T (p.Gly224Ter) | ClinVar dbSNP |
| 7 | g.117535249G>A | CA368976703 | CFTR | c.581G>A (p.Gly194Glu) c.*478G>A (n.*478G>A) c.*405G>A (n.*405G>A) c.338G>A (p.Gly113Glu) c.491G>A (p.Gly164Glu) c.671G>A (p.Gly224Glu) | |
| 7 | g.117535249G>C | CA368976702 | CFTR | c.581G>C (p.Gly194Ala) c.*478G>C (n.*478G>C) c.*405G>C (n.*405G>C) c.338G>C (p.Gly113Ala) c.491G>C (p.Gly164Ala) c.671G>C (p.Gly224Ala) | |
| 7 | g.117535249G= | CA1737362103 | CFTR | c.581G= (p.Gly194=) c.*478G= (n.*478G=) c.*405G= (n.*405G=) c.338G= (p.Gly113=) c.491G= (p.Gly164=) c.671G= (p.Gly224=) | |
| 7 | g.117535249G>T | CA327585 | CFTR | c.581G>T (p.Gly194Val) c.*478G>T (n.*478G>T) c.*405G>T (n.*405G>T) c.338G>T (p.Gly113Val) c.491G>T (p.Gly164Val) c.671G>T (p.Gly224Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535250A= | CA1737362104 | CFTR | c.582A= (p.Gly194=) c.*479A= (n.*479A=) c.*406A= (n.*406A=) c.339A= (p.Gly113=) c.492A= (p.Gly164=) c.672A= (p.Gly224=) | |
| 7 | g.117535250A>C | CA457227085 | CFTR | c.582A>C (p.Gly194=) c.*479A>C (n.*479A>C) c.*406A>C (n.*406A>C) c.339A>C (p.Gly113=) c.492A>C (p.Gly164=) c.672A>C (p.Gly224=) | |
| 7 | g.117535250A>G | CA4450778 | CFTR | c.582A>G (p.Gly194=) c.*479A>G (n.*479A>G) c.*406A>G (n.*406A>G) c.339A>G (p.Gly113=) c.492A>G (p.Gly164=) c.672A>G (p.Gly224=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535250A>T | CA457227086 | CFTR | c.582A>T (p.Gly194=) c.*479A>T (n.*479A>T) c.*406A>T (n.*406A>T) c.339A>T (p.Gly113=) c.492A>T (p.Gly164=) c.672A>T (p.Gly224=) | ClinVar dbSNP |
| 7 | g.117535251C>A | CA368976705 | CFTR | c.583C>A (p.Leu195Ile) c.*480C>A (n.*480C>A) c.*407C>A (n.*407C>A) c.340C>A (p.Leu114Ile) c.493C>A (p.Leu165Ile) c.673C>A (p.Leu225Ile) | gnomAD v4 |
| 7 | g.117535251C>G | CA368976707 | CFTR | c.583C>G (p.Leu195Val) c.*480C>G (n.*480C>G) c.*407C>G (n.*407C>G) c.340C>G (p.Leu114Val) c.493C>G (p.Leu165Val) c.673C>G (p.Leu225Val) | |
| 7 | g.117535251C>T | CA368976709 | CFTR | c.583C>T (p.Leu195Phe) c.*480C>T (n.*480C>T) c.*407C>T (n.*407C>T) c.340C>T (p.Leu114Phe) c.493C>T (p.Leu165Phe) c.673C>T (p.Leu225Phe) | gnomAD v4 |
| 7 | g.117535252T>A | CA368976711 | CFTR | c.584T>A (p.Leu195His) c.*481T>A (n.*481T>A) c.*408T>A (n.*408T>A) c.341T>A (p.Leu114His) c.494T>A (p.Leu165His) c.674T>A (p.Leu225His) | |
| 7 | g.117535252T>C | CA368976713 | CFTR | c.584T>C (p.Leu195Pro) c.*481T>C (n.*481T>C) c.*408T>C (n.*408T>C) c.341T>C (p.Leu114Pro) c.494T>C (p.Leu165Pro) c.674T>C (p.Leu225Pro) | dbSNP |
| 7 | g.117535252T>G | CA368976715 | CFTR | c.584T>G (p.Leu195Arg) c.*481T>G (n.*481T>G) c.*408T>G (n.*408T>G) c.341T>G (p.Leu114Arg) c.494T>G (p.Leu165Arg) c.674T>G (p.Leu225Arg) | |
| 7 | g.117535252T= | CA1737362105 | CFTR | c.584T= (p.Leu195=) c.*481T= (n.*481T=) c.*408T= (n.*408T=) c.341T= (p.Leu114=) c.494T= (p.Leu165=) c.674T= (p.Leu225=) | |
| 7 | g.117535253T>A | CA457227089 | CFTR | c.585T>A (p.Leu195=) c.*482T>A (n.*482T>A) c.*409T>A (n.*409T>A) c.342T>A (p.Leu114=) c.495T>A (p.Leu165=) c.675T>A (p.Leu225=) | |
| 7 | g.117535253T>C | CA457227090 | CFTR | c.585T>C (p.Leu195=) c.*482T>C (n.*482T>C) c.*409T>C (n.*409T>C) c.342T>C (p.Leu114=) c.495T>C (p.Leu165=) c.675T>C (p.Leu225=) | ClinVar gnomAD v4 |
| 7 | g.117535253T>G | CA457227091 | CFTR | c.585T>G (p.Leu195=) c.*482T>G (n.*482T>G) c.*409T>G (n.*409T>G) c.342T>G (p.Leu114=) c.495T>G (p.Leu165=) c.675T>G (p.Leu225=) | |
| 7 | g.117535253T= | CA1737362106 | CFTR | c.585T= (p.Leu195=) c.*482T= (n.*482T=) c.*409T= (n.*409T=) c.342T= (p.Leu114=) c.495T= (p.Leu165=) c.675T= (p.Leu225=) | |
| 7 | g.117535254G>A | CA368976716 | CFTR | c.586G>A (p.Ala196Thr) c.*483G>A (n.*483G>A) c.*410G>A (n.*410G>A) c.343G>A (p.Ala115Thr) c.496G>A (p.Ala166Thr) c.676G>A (p.Ala226Thr) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117535254G>C | CA368976717 | CFTR | c.586G>C (p.Ala196Pro) c.*483G>C (n.*483G>C) c.*410G>C (n.*410G>C) c.343G>C (p.Ala115Pro) c.496G>C (p.Ala166Pro) c.676G>C (p.Ala226Pro) | ClinVar gnomAD v4 |
| 7 | g.117535254G= | CA1737362107 | CFTR | c.586G= (p.Ala196=) c.*483G= (n.*483G=) c.*410G= (n.*410G=) c.343G= (p.Ala115=) c.496G= (p.Ala166=) c.676G= (p.Ala226=) | |
| 7 | g.117535254G>T | CA368976719 | CFTR | c.586G>T (p.Ala196Ser) c.*483G>T (n.*483G>T) c.*410G>T (n.*410G>T) c.343G>T (p.Ala115Ser) c.496G>T (p.Ala166Ser) c.676G>T (p.Ala226Ser) | |
| 7 | g.117535254dup | CA915945461 | CFTR | c.586dup (p.Ala196GlyfsTer?) c.*483dup (n.*483dup) c.*410dup (n.*410dup) c.343dup (p.Ala115GlyfsTer?) c.496dup (p.Ala166GlyfsTer?) c.676dup (p.Ala226GlyfsTer?) | ClinVar dbSNP |
| 7 | g.117535255C>A | CA368976720 | CFTR | c.587C>A (p.Ala196Glu) c.*484C>A (n.*484C>A) c.*411C>A (n.*411C>A) c.344C>A (p.Ala115Glu) c.497C>A (p.Ala166Glu) c.677C>A (p.Ala226Glu) | |
| 7 | g.117535255C= | CA1737362108 | CFTR | c.587C= (p.Ala196=) c.*484C= (n.*484C=) c.*411C= (n.*411C=) c.344C= (p.Ala115=) c.497C= (p.Ala166=) c.677C= (p.Ala226=) | |
| 7 | g.117535255C>G | CA368976721 | CFTR | c.587C>G (p.Ala196Gly) c.*484C>G (n.*484C>G) c.*411C>G (n.*411C>G) c.344C>G (p.Ala115Gly) c.497C>G (p.Ala166Gly) c.677C>G (p.Ala226Gly) | ClinVar |
| 7 | g.117535255C>T | CA368976723 | CFTR | c.587C>T (p.Ala196Val) c.*484C>T (n.*484C>T) c.*411C>T (n.*411C>T) c.344C>T (p.Ala115Val) c.497C>T (p.Ala166Val) c.677C>T (p.Ala226Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117535256A= | CA1737362109 | CFTR | c.588A= (p.Ala196=) c.*485A= (n.*485A=) c.*412A= (n.*412A=) c.345A= (p.Ala115=) c.498A= (p.Ala166=) c.678A= (p.Ala226=) | |
| 7 | g.117535256A>C | CA457227092 | CFTR | c.588A>C (p.Ala196=) c.*485A>C (n.*485A>C) c.*412A>C (n.*412A>C) c.345A>C (p.Ala115=) c.498A>C (p.Ala166=) c.678A>C (p.Ala226=) | |
| 7 | g.117535256A>G | CA4450779 | CFTR | c.588A>G (p.Ala196=) c.*485A>G (n.*485A>G) c.*412A>G (n.*412A>G) c.345A>G (p.Ala115=) c.498A>G (p.Ala166=) c.678A>G (p.Ala226=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535256A>T | CA457227094 | CFTR | c.588A>T (p.Ala196=) c.*485A>T (n.*485A>T) c.*412A>T (n.*412A>T) c.345A>T (p.Ala115=) c.498A>T (p.Ala166=) c.678A>T (p.Ala226=) | |
| 7 | g.117535257T>A | CA368976730 | CFTR | c.589T>A (p.Leu197Met) c.*486T>A (n.*486T>A) c.*413T>A (n.*413T>A) c.346T>A (p.Leu116Met) c.499T>A (p.Leu167Met) c.679T>A (p.Leu227Met) | |
| 7 | g.117535257T>C | CA4450780 | CFTR | c.589T>C (p.Leu197=) c.*486T>C (n.*486T>C) c.*413T>C (n.*413T>C) c.346T>C (p.Leu116=) c.499T>C (p.Leu167=) c.679T>C (p.Leu227=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535257T>G | CA368976728 | CFTR | c.589T>G (p.Leu197Val) c.*486T>G (n.*486T>G) c.*413T>G (n.*413T>G) c.346T>G (p.Leu116Val) c.499T>G (p.Leu167Val) c.679T>G (p.Leu227Val) | |
| 7 | g.117535257T= | CA1737362110 | CFTR | c.589T= (p.Leu197=) c.*486T= (n.*486T=) c.*413T= (n.*413T=) c.346T= (p.Leu116=) c.499T= (p.Leu167=) c.679T= (p.Leu227=) | |
| 7 | g.117535258T>A | CA368976732 | CFTR | c.590T>A (p.Leu197Ter) c.*487T>A (n.*487T>A) c.*414T>A (n.*414T>A) c.347T>A (p.Leu116Ter) c.500T>A (p.Leu167Ter) c.680T>A (p.Leu227Ter) | |
| 7 | g.117535258T>C | CA368976734 | CFTR | c.590T>C (p.Leu197Ser) c.*487T>C (n.*487T>C) c.*414T>C (n.*414T>C) c.347T>C (p.Leu116Ser) c.500T>C (p.Leu167Ser) c.680T>C (p.Leu227Ser) | |
| 7 | g.117535258T>G | CA368976736 | CFTR | c.590T>G (p.Leu197Trp) c.*487T>G (n.*487T>G) c.*414T>G (n.*414T>G) c.347T>G (p.Leu116Trp) c.500T>G (p.Leu167Trp) c.680T>G (p.Leu227Trp) | gnomAD v4 |
| 7 | g.117535259G>A | CA457227096 | CFTR | c.591G>A (p.Leu197=) c.*488G>A (n.*488G>A) c.*415G>A (n.*415G>A) c.348G>A (p.Leu116=) c.501G>A (p.Leu167=) c.681G>A (p.Leu227=) | COSMIC |
| 7 | g.117535259G>C | CA368976738 | CFTR | c.591G>C (p.Leu197Phe) c.*488G>C (n.*488G>C) c.*415G>C (n.*415G>C) c.348G>C (p.Leu116Phe) c.501G>C (p.Leu167Phe) c.681G>C (p.Leu227Phe) | |
| 7 | g.117535259G>T | CA368976740 | CFTR | c.591G>T (p.Leu197Phe) c.*488G>T (n.*488G>T) c.*415G>T (n.*415G>T) c.348G>T (p.Leu116Phe) c.501G>T (p.Leu167Phe) c.681G>T (p.Leu227Phe) | |
| 7 | g.117535260G>A | CA260256 | CFTR | c.592G>A (p.Ala198Thr) c.*489G>A (n.*489G>A) c.*416G>A (n.*416G>A) c.349G>A (p.Ala117Thr) c.502G>A (p.Ala168Thr) c.682G>A (p.Ala228Thr) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117535260G>C | CA327587 | CFTR | c.592G>C (p.Ala198Pro) c.*489G>C (n.*489G>C) c.*416G>C (n.*416G>C) c.349G>C (p.Ala117Pro) c.502G>C (p.Ala168Pro) c.682G>C (p.Ala228Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117535260G= | CA1737362111 | CFTR | c.592G= (p.Ala198=) c.*489G= (n.*489G=) c.*416G= (n.*416G=) c.349G= (p.Ala117=) c.502G= (p.Ala168=) c.682G= (p.Ala228=) | |
| 7 | g.117535260G>T | CA368976743 | CFTR | c.592G>T (p.Ala198Ser) c.*489G>T (n.*489G>T) c.*416G>T (n.*416G>T) c.349G>T (p.Ala117Ser) c.502G>T (p.Ala168Ser) c.682G>T (p.Ala228Ser) | ClinVar |
| 7 | g.117535261C>A | CA368976745 | CFTR | c.593C>A (p.Ala198Glu) c.*490C>A (n.*490C>A) c.*417C>A (n.*417C>A) c.350C>A (p.Ala117Glu) c.503C>A (p.Ala168Glu) c.683C>A (p.Ala228Glu) | |
| 7 | g.117535261C= | CA1737362112 | CFTR | c.593C= (p.Ala198=) c.*490C= (n.*490C=) c.*417C= (n.*417C=) c.350C= (p.Ala117=) c.503C= (p.Ala168=) c.683C= (p.Ala228=) | |
| 7 | g.117535261C>G | CA368976747 | CFTR | c.593C>G (p.Ala198Gly) c.*490C>G (n.*490C>G) c.*417C>G (n.*417C>G) c.350C>G (p.Ala117Gly) c.503C>G (p.Ala168Gly) c.683C>G (p.Ala228Gly) | gnomAD v4 |
| 7 | g.117535261C>T | CA164945434 | CFTR | c.593C>T (p.Ala198Val) c.*490C>T (n.*490C>T) c.*417C>T (n.*417C>T) c.350C>T (p.Ala117Val) c.503C>T (p.Ala168Val) c.683C>T (p.Ala228Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535262A= | CA1737362113 | CFTR | c.594A= (p.Ala198=) c.*491A= (n.*491A=) c.*418A= (n.*418A=) c.351A= (p.Ala117=) c.504A= (p.Ala168=) c.684A= (p.Ala228=) | |
| 7 | g.117535262A>C | CA457227100 | CFTR | c.594A>C (p.Ala198=) c.*491A>C (n.*491A>C) c.*418A>C (n.*418A>C) c.351A>C (p.Ala117=) c.504A>C (p.Ala168=) c.684A>C (p.Ala228=) | ClinVar dbSNP |
| 7 | g.117535262A>G | CA457227102 | CFTR | c.594A>G (p.Ala198=) c.*491A>G (n.*491A>G) c.*418A>G (n.*418A>G) c.351A>G (p.Ala117=) c.504A>G (p.Ala168=) c.684A>G (p.Ala228=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117535262A>T | CA457227101 | CFTR | c.594A>T (p.Ala198=) c.*491A>T (n.*491A>T) c.*418A>T (n.*418A>T) c.351A>T (p.Ala117=) c.504A>T (p.Ala168=) c.684A>T (p.Ala228=) | |
| 7 | g.117535263C>A | CA368976752 | CFTR | c.595C>A (p.His199Asn) c.*492C>A (n.*492C>A) c.*419C>A (n.*419C>A) c.352C>A (p.His118Asn) c.505C>A (p.His169Asn) c.685C>A (p.His229Asn) | |
| 7 | g.117535263C= | CA1737362114 | CFTR | c.595C= (p.His199=) c.*492C= (n.*492C=) c.*419C= (n.*419C=) c.352C= (p.His118=) c.505C= (p.His169=) c.685C= (p.His229=) | |
| 7 | g.117535263C>G | CA368976750 | CFTR | c.595C>G (p.His199Asp) c.*492C>G (n.*492C>G) c.*419C>G (n.*419C>G) c.352C>G (p.His118Asp) c.505C>G (p.His169Asp) c.685C>G (p.His229Asp) | |
| 7 | g.117535263C>T | CA328129 | CFTR | c.595C>T (p.His199Tyr) c.*492C>T (n.*492C>T) c.*419C>T (n.*419C>T) c.352C>T (p.His118Tyr) c.505C>T (p.His169Tyr) c.685C>T (p.His229Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117535264A= | CA1737362115 | CFTR | c.596A= (p.His199=) c.*493A= (n.*493A=) c.*420A= (n.*420A=) c.353A= (p.His118=) c.506A= (p.His169=) c.686A= (p.His229=) | |
| 7 | g.117535264A>C | CA368976755 | CFTR | c.596A>C (p.His199Pro) c.*493A>C (n.*493A>C) c.*420A>C (n.*420A>C) c.353A>C (p.His118Pro) c.506A>C (p.His169Pro) c.686A>C (p.His229Pro) | |
| 7 | g.117535264A>G | CA327589 | CFTR | c.596A>G (p.His199Arg) c.*493A>G (n.*493A>G) c.*420A>G (n.*420A>G) c.353A>G (p.His118Arg) c.506A>G (p.His169Arg) c.686A>G (p.His229Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117535264A>T | CA368976757 | CFTR | c.596A>T (p.His199Leu) c.*493A>T (n.*493A>T) c.*420A>T (n.*420A>T) c.353A>T (p.His118Leu) c.506A>T (p.His169Leu) c.686A>T (p.His229Leu) | |
| 7 | g.117535265T>A | CA368976759 | CFTR | c.597T>A (p.His199Gln) c.*494T>A (n.*494T>A) c.*421T>A (n.*421T>A) c.354T>A (p.His118Gln) c.507T>A (p.His169Gln) c.687T>A (p.His229Gln) | |
| 7 | g.117535265T>C | CA457227105 | CFTR | c.597T>C (p.His199=) c.*494T>C (n.*494T>C) c.*421T>C (n.*421T>C) c.354T>C (p.His118=) c.507T>C (p.His169=) c.687T>C (p.His229=) | |
| 7 | g.117535265T>G | CA327591 | CFTR | c.597T>G (p.His199Gln) c.*494T>G (n.*494T>G) c.*421T>G (n.*421T>G) c.354T>G (p.His118Gln) c.507T>G (p.His169Gln) c.687T>G (p.His229Gln) | ClinVar dbSNP |
| 7 | g.117535265T= | CA1737362116 | CFTR | c.597T= (p.His199=) c.*494T= (n.*494T=) c.*421T= (n.*421T=) c.354T= (p.His118=) c.507T= (p.His169=) c.687T= (p.His229=) | |
| 7 | g.117535266T>A | CA327592 | CFTR | c.598T>A (p.Phe200Ile) c.*495T>A (n.*495T>A) c.*422T>A (n.*422T>A) c.355T>A (p.Phe119Ile) c.508T>A (p.Phe170Ile) c.688T>A (p.Phe230Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117535266T>C | CA164945466 | CFTR | c.598T>C (p.Phe200Leu) c.*495T>C (n.*495T>C) c.*422T>C (n.*422T>C) c.355T>C (p.Phe119Leu) c.508T>C (p.Phe170Leu) c.688T>C (p.Phe230Leu) | dbSNP gnomAD v4 |
| 7 | g.117535266T>G | CA368976764 | CFTR | c.598T>G (p.Phe200Val) c.*495T>G (n.*495T>G) c.*422T>G (n.*422T>G) c.355T>G (p.Phe119Val) c.508T>G (p.Phe170Val) c.688T>G (p.Phe230Val) | ClinVar dbSNP |
| 7 | g.117535266T= | CA1737362117 | CFTR | c.598T= (p.Phe200=) c.*495T= (n.*495T=) c.*422T= (n.*422T=) c.355T= (p.Phe119=) c.508T= (p.Phe170=) c.688T= (p.Phe230=) | |
| 7 | g.117535267T>A | CA368976765 | CFTR | c.599T>A (p.Phe200Tyr) c.*496T>A (n.*496T>A) c.*423T>A (n.*423T>A) c.356T>A (p.Phe119Tyr) c.509T>A (p.Phe170Tyr) c.689T>A (p.Phe230Tyr) | |
| 7 | g.117535267T>C | CA368976766 | CFTR | c.599T>C (p.Phe200Ser) c.*496T>C (n.*496T>C) c.*423T>C (n.*423T>C) c.356T>C (p.Phe119Ser) c.509T>C (p.Phe170Ser) c.689T>C (p.Phe230Ser) | dbSNP |
| 7 | g.117535267T>G | CA368976768 | CFTR | c.599T>G (p.Phe200Cys) c.*496T>G (n.*496T>G) c.*423T>G (n.*423T>G) c.356T>G (p.Phe119Cys) c.509T>G (p.Phe170Cys) c.689T>G (p.Phe230Cys) | |
| 7 | g.117535267T= | CA1737362118 | CFTR | c.599T= (p.Phe200=) c.*496T= (n.*496T=) c.*423T= (n.*423T=) c.356T= (p.Phe119=) c.509T= (p.Phe170=) c.689T= (p.Phe230=) | |
| 7 | g.117535268C>A | CA4450781 | CFTR | c.600C>A (p.Phe200Leu) c.*497C>A (n.*497C>A) c.*424C>A (n.*424C>A) c.357C>A (p.Phe119Leu) c.510C>A (p.Phe170Leu) c.690C>A (p.Phe230Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535268C= | CA1737362120 | CFTR | c.600C= (p.Phe200=) c.*497C= (n.*497C=) c.*424C= (n.*424C=) c.357C= (p.Phe119=) c.510C= (p.Phe170=) c.690C= (p.Phe230=) | |
| 7 | g.117535268C>G | CA368976771 | CFTR | c.600C>G (p.Phe200Leu) c.*497C>G (n.*497C>G) c.*424C>G (n.*424C>G) c.357C>G (p.Phe119Leu) c.510C>G (p.Phe170Leu) c.690C>G (p.Phe230Leu) | |
| 7 | g.117535268C>T | CA164945470 | CFTR | c.600C>T (p.Phe200=) c.*497C>T (n.*497C>T) c.*424C>T (n.*424C>T) c.357C>T (p.Phe119=) c.510C>T (p.Phe170=) c.690C>T (p.Phe230=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117535268_117535269delinsCG | CA1737362119 | CFTR | c.600_601delinsCG (p.Phe200=) c.*497_*498delinsCG (n.*497_*498delinsCG) c.*424_*425delinsCG (n.*424_*425delinsCG) c.357_358delinsCG (p.Phe119=) c.510_511delinsCG (p.Phe170=) c.690_691delinsCG (p.Phe230=) | |
| 7 | g.117535269del | CA327596 | CFTR | c.601del (p.Val201CysfsTer14) c.*498del (n.*498del) c.*425del (n.*425del) c.358del (p.Val120CysfsTer14) c.511del (p.Val171CysfsTer14) c.691del (p.Val231CysfsTer14) | ClinVar dbSNP |
| 7 | g.117535269G>A | CA327594 | CFTR | c.601G>A (p.Val201Met) c.*498G>A (n.*498G>A) c.*425G>A (n.*425G>A) c.358G>A (p.Val120Met) c.511G>A (p.Val171Met) c.691G>A (p.Val231Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535269G>C | CA368976774 | CFTR | c.601G>C (p.Val201Leu) c.*498G>C (n.*498G>C) c.*425G>C (n.*425G>C) c.358G>C (p.Val120Leu) c.511G>C (p.Val171Leu) c.691G>C (p.Val231Leu) | gnomAD v4 |
| 7 | g.117535269G= | CA1737362121 | CFTR | c.601G= (p.Val201=) c.*498G= (n.*498G=) c.*425G= (n.*425G=) c.358G= (p.Val120=) c.511G= (p.Val171=) c.691G= (p.Val231=) | |
| 7 | g.117535269G>T | CA368976776 | CFTR | c.601G>T (p.Val201Leu) c.*498G>T (n.*498G>T) c.*425G>T (n.*425G>T) c.358G>T (p.Val120Leu) c.511G>T (p.Val171Leu) c.691G>T (p.Val231Leu) | |
| 7 | g.117535270T>A | CA368976779 | CFTR | c.602T>A (p.Val201Glu) c.*499T>A (n.*499T>A) c.*426T>A (n.*426T>A) c.359T>A (p.Val120Glu) c.512T>A (p.Val171Glu) c.692T>A (p.Val231Glu) | |
| 7 | g.117535270T>C | CA368976781 | CFTR | c.602T>C (p.Val201Ala) c.*499T>C (n.*499T>C) c.*426T>C (n.*426T>C) c.359T>C (p.Val120Ala) c.512T>C (p.Val171Ala) c.692T>C (p.Val231Ala) | |
| 7 | g.117535270T>G | CA368976783 | CFTR | c.602T>G (p.Val201Gly) c.*499T>G (n.*499T>G) c.*426T>G (n.*426T>G) c.359T>G (p.Val120Gly) c.512T>G (p.Val171Gly) c.692T>G (p.Val231Gly) | |
| 7 | g.117535271G>A | CA164945477 | CFTR | c.603G>A (p.Val201=) c.*500G>A (n.*500G>A) c.*427G>A (n.*427G>A) c.360G>A (p.Val120=) c.513G>A (p.Val171=) c.693G>A (p.Val231=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117535271G>C | CA457227110 | CFTR | c.603G>C (p.Val201=) c.*500G>C (n.*500G>C) c.*427G>C (n.*427G>C) c.360G>C (p.Val120=) c.513G>C (p.Val171=) c.693G>C (p.Val231=) | |
| 7 | g.117535271G= | CA1737362122 | CFTR | c.603G= (p.Val201=) c.*500G= (n.*500G=) c.*427G= (n.*427G=) c.360G= (p.Val120=) c.513G= (p.Val171=) c.693G= (p.Val231=) | |
| 7 | g.117535271G>T | CA457227109 | CFTR | c.603G>T (p.Val201=) c.*500G>T (n.*500G>T) c.*427G>T (n.*427G>T) c.360G>T (p.Val120=) c.513G>T (p.Val171=) c.693G>T (p.Val231=) | |
| 7 | g.117535272T>A | CA368976789 | CFTR | c.604T>A (p.Trp202Arg) c.*501T>A (n.*501T>A) c.*428T>A (n.*428T>A) c.361T>A (p.Trp121Arg) c.514T>A (p.Trp172Arg) c.694T>A (p.Trp232Arg) | |
| 7 | g.117535272T>C | CA368976785 | CFTR | c.604T>C (p.Trp202Arg) c.*501T>C (n.*501T>C) c.*428T>C (n.*428T>C) c.361T>C (p.Trp121Arg) c.514T>C (p.Trp172Arg) c.694T>C (p.Trp232Arg) | |
| 7 | g.117535272T>G | CA368976787 | CFTR | c.604T>G (p.Trp202Gly) c.*501T>G (n.*501T>G) c.*428T>G (n.*428T>G) c.361T>G (p.Trp121Gly) c.514T>G (p.Trp172Gly) c.694T>G (p.Trp232Gly) | |
| 7 | g.117535273G>A | CA368976792 | CFTR | c.605G>A (p.Trp202Ter) c.*502G>A (n.*502G>A) c.*429G>A (n.*429G>A) c.362G>A (p.Trp121Ter) c.515G>A (p.Trp172Ter) c.695G>A (p.Trp232Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117535273G>C | CA368976794 | CFTR | c.605G>C (p.Trp202Ser) c.*502G>C (n.*502G>C) c.*429G>C (n.*429G>C) c.362G>C (p.Trp121Ser) c.515G>C (p.Trp172Ser) c.695G>C (p.Trp232Ser) | |
| 7 | g.117535273G= | CA1737362123 | CFTR | c.605G= (p.Trp202=) c.*502G= (n.*502G=) c.*429G= (n.*429G=) c.362G= (p.Trp121=) c.515G= (p.Trp172=) c.695G= (p.Trp232=) | |
| 7 | g.117535273G>T | CA368976796 | CFTR | c.605G>T (p.Trp202Leu) c.*502G>T (n.*502G>T) c.*429G>T (n.*429G>T) c.362G>T (p.Trp121Leu) c.515G>T (p.Trp172Leu) c.695G>T (p.Trp232Leu) | |
| 7 | g.117535273_117535281del | CA645549558 | CFTR | c.605_613del (p.Trp202_Pro205delinsSer) c.*502_*510del (n.*502_*510del) c.*429_*437del (n.*429_*437del) c.362_370del (p.Trp121_Pro124delinsSer) c.515_523del (p.Trp172_Pro175delinsSer) c.695_703del (p.Trp232_Pro235delinsSer) | COSMIC |
| 7 | g.117535274G>A | CA327597 | CFTR | c.606G>A (p.Trp202Ter) c.*503G>A (n.*503G>A) c.*430G>A (n.*430G>A) c.363G>A (p.Trp121Ter) c.516G>A (p.Trp172Ter) c.696G>A (p.Trp232Ter) | ClinVar dbSNP |
| 7 | g.117535274G>C | CA368976798 | CFTR | c.606G>C (p.Trp202Cys) c.*503G>C (n.*503G>C) c.*430G>C (n.*430G>C) c.363G>C (p.Trp121Cys) c.516G>C (p.Trp172Cys) c.696G>C (p.Trp232Cys) | |
| 7 | g.117535274G= | CA1737362124 | CFTR | c.606G= (p.Trp202=) c.*503G= (n.*503G=) c.*430G= (n.*430G=) c.363G= (p.Trp121=) c.516G= (p.Trp172=) c.696G= (p.Trp232=) | |
| 7 | g.117535274G>T | CA368976799 | CFTR | c.606G>T (p.Trp202Cys) c.*503G>T (n.*503G>T) c.*430G>T (n.*430G>T) c.363G>T (p.Trp121Cys) c.516G>T (p.Trp172Cys) c.696G>T (p.Trp232Cys) | gnomAD v4 |
| 7 | g.117535275A>C | CA368976800 | CFTR | c.607A>C (p.Ile203Leu) c.*504A>C (n.*504A>C) c.*431A>C (n.*431A>C) c.364A>C (p.Ile122Leu) c.517A>C (p.Ile173Leu) c.697A>C (p.Ile233Leu) | |
| 7 | g.117535275A>G | CA368976803 | CFTR | c.607A>G (p.Ile203Val) c.*504A>G (n.*504A>G) c.*431A>G (n.*431A>G) c.364A>G (p.Ile122Val) c.517A>G (p.Ile173Val) c.697A>G (p.Ile233Val) | |
| 7 | g.117535275A>T | CA368976802 | CFTR | c.607A>T (p.Ile203Phe) c.*504A>T (n.*504A>T) c.*431A>T (n.*431A>T) c.364A>T (p.Ile122Phe) c.517A>T (p.Ile173Phe) c.697A>T (p.Ile233Phe) | |
| 7 | g.117535276T>A | CA368976805 | CFTR | c.608T>A (p.Ile203Asn) c.*505T>A (n.*505T>A) c.*432T>A (n.*432T>A) c.365T>A (p.Ile122Asn) c.518T>A (p.Ile173Asn) c.698T>A (p.Ile233Asn) | |
| 7 | g.117535276T>C | CA368976806 | CFTR | c.608T>C (p.Ile203Thr) c.*505T>C (n.*505T>C) c.*432T>C (n.*432T>C) c.365T>C (p.Ile122Thr) c.518T>C (p.Ile173Thr) c.698T>C (p.Ile233Thr) | |
| 7 | g.117535276T>G | CA368976808 | CFTR | c.608T>G (p.Ile203Ser) c.*505T>G (n.*505T>G) c.*432T>G (n.*432T>G) c.365T>G (p.Ile122Ser) c.518T>G (p.Ile173Ser) c.698T>G (p.Ile233Ser) | |
| 7 | g.117535277C>A | CA457227115 | CFTR | c.609C>A (p.Ile203=) c.*506C>A (n.*506C>A) c.*433C>A (n.*433C>A) c.366C>A (p.Ile122=) c.519C>A (p.Ile173=) c.699C>A (p.Ile233=) | ClinVar |
| 7 | g.117535277C= | CA1737362125 | CFTR | c.609C= (p.Ile203=) c.*506C= (n.*506C=) c.*433C= (n.*433C=) c.366C= (p.Ile122=) c.519C= (p.Ile173=) c.699C= (p.Ile233=) | |
| 7 | g.117535277C>G | CA327599 | CFTR | c.609C>G (p.Ile203Met) c.*506C>G (n.*506C>G) c.*433C>G (n.*433C>G) c.366C>G (p.Ile122Met) c.519C>G (p.Ile173Met) c.699C>G (p.Ile233Met) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117535277C>T | CA4450782 | CFTR | c.609C>T (p.Ile203=) c.*506C>T (n.*506C>T) c.*433C>T (n.*433C>T) c.366C>T (p.Ile122=) c.519C>T (p.Ile173=) c.699C>T (p.Ile233=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.117535278G>A | CA4450783 | CFTR | c.610G>A (p.Ala204Thr) c.*507G>A (n.*507G>A) c.*434G>A (n.*434G>A) c.367G>A (p.Ala123Thr) c.520G>A (p.Ala174Thr) c.700G>A (p.Ala234Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535278G>C | CA368976812 | CFTR | c.610G>C (p.Ala204Pro) c.*507G>C (n.*507G>C) c.*434G>C (n.*434G>C) c.367G>C (p.Ala123Pro) c.520G>C (p.Ala174Pro) c.700G>C (p.Ala234Pro) | dbSNP gnomAD v4 |
| 7 | g.117535278G= | CA1737362126 | CFTR | c.610G= (p.Ala204=) c.*507G= (n.*507G=) c.*434G= (n.*434G=) c.367G= (p.Ala123=) c.520G= (p.Ala174=) c.700G= (p.Ala234=) | |
| 7 | g.117535278G>T | CA368976813 | CFTR | c.610G>T (p.Ala204Ser) c.*507G>T (n.*507G>T) c.*434G>T (n.*434G>T) c.367G>T (p.Ala123Ser) c.520G>T (p.Ala174Ser) c.700G>T (p.Ala234Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117535279C>A | CA368976815 | CFTR | c.611C>A (p.Ala204Asp) c.*508C>A (n.*508C>A) c.*435C>A (n.*435C>A) c.368C>A (p.Ala123Asp) c.521C>A (p.Ala174Asp) c.701C>A (p.Ala234Asp) | |
| 7 | g.117535279C>G | CA368976816 | CFTR | c.611C>G (p.Ala204Gly) c.*508C>G (n.*508C>G) c.*435C>G (n.*435C>G) c.368C>G (p.Ala123Gly) c.521C>G (p.Ala174Gly) c.701C>G (p.Ala234Gly) | |
| 7 | g.117535279C>T | CA368976818 | CFTR | c.611C>T (p.Ala204Val) c.*508C>T (n.*508C>T) c.*435C>T (n.*435C>T) c.368C>T (p.Ala123Val) c.521C>T (p.Ala174Val) c.701C>T (p.Ala234Val) | gnomAD v4 |
| 7 | g.117535281_117538553del | CA2580076362 | CFTR | c.613_870-1547del c.*510_*767-1547del c.*437_*694-1547del c.370_627-1547del c.523_780-1547del c.703_960-1547del | ClinVar |
| 7 | g.117535280T>A | CA457227118 | CFTR | c.612T>A (p.Ala204=) c.*509T>A (n.*509T>A) c.*436T>A (n.*436T>A) c.369T>A (p.Ala123=) c.522T>A (p.Ala174=) c.702T>A (p.Ala234=) | |
| 7 | g.117535280T>C | CA457227119 | CFTR | c.612T>C (p.Ala204=) c.*509T>C (n.*509T>C) c.*436T>C (n.*436T>C) c.369T>C (p.Ala123=) c.522T>C (p.Ala174=) c.702T>C (p.Ala234=) | |
| 7 | g.117535280T>G | CA4450784 | CFTR | c.612T>G (p.Ala204=) c.*509T>G (n.*509T>G) c.*436T>G (n.*436T>G) c.369T>G (p.Ala123=) c.522T>G (p.Ala174=) c.702T>G (p.Ala234=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535280T= | CA1737362127 | CFTR | c.612T= (p.Ala204=) c.*509T= (n.*509T=) c.*436T= (n.*436T=) c.369T= (p.Ala123=) c.522T= (p.Ala174=) c.702T= (p.Ala234=) | |
| 7 | g.117535281C>A | CA368976821 | CFTR | c.613C>A (p.Pro205Thr) c.*510C>A (n.*510C>A) c.*437C>A (n.*437C>A) c.370C>A (p.Pro124Thr) c.523C>A (p.Pro175Thr) c.703C>A (p.Pro235Thr) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117535281C= | CA1737362128 | CFTR | c.613C= (p.Pro205=) c.*510C= (n.*510C=) c.*437C= (n.*437C=) c.370C= (p.Pro124=) c.523C= (p.Pro175=) c.703C= (p.Pro235=) | |
| 7 | g.117535281C>G | CA368976824 | CFTR | c.613C>G (p.Pro205Ala) c.*510C>G (n.*510C>G) c.*437C>G (n.*437C>G) c.370C>G (p.Pro124Ala) c.523C>G (p.Pro175Ala) c.703C>G (p.Pro235Ala) | |
| 7 | g.117535281C>T | CA328130 | CFTR | c.613C>T (p.Pro205Ser) c.*510C>T (n.*510C>T) c.*437C>T (n.*437C>T) c.370C>T (p.Pro124Ser) c.523C>T (p.Pro175Ser) c.703C>T (p.Pro235Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117535282C>A | CA368976826 | CFTR | c.614C>A (p.Pro205His) c.*511C>A (n.*511C>A) c.*438C>A (n.*438C>A) c.371C>A (p.Pro124His) c.524C>A (p.Pro175His) c.704C>A (p.Pro235His) | |
| 7 | g.117535282C= | CA1737362129 | CFTR | c.614C= (p.Pro205=) c.*511C= (n.*511C=) c.*438C= (n.*438C=) c.371C= (p.Pro124=) c.524C= (p.Pro175=) c.704C= (p.Pro235=) | |
| 7 | g.117535282C>G | CA327601 | CFTR | c.614C>G (p.Pro205Arg) c.*511C>G (n.*511C>G) c.*438C>G (n.*438C>G) c.371C>G (p.Pro124Arg) c.524C>G (p.Pro175Arg) c.704C>G (p.Pro235Arg) | ClinVar dbSNP |
| 7 | g.117535282C>T | CA4450785 | CFTR | c.614C>T (p.Pro205Leu) c.*511C>T (n.*511C>T) c.*438C>T (n.*438C>T) c.371C>T (p.Pro124Leu) c.524C>T (p.Pro175Leu) c.704C>T (p.Pro235Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535283T>A | CA457227122 | CFTR | c.615T>A (p.Pro205=) c.*512T>A (n.*512T>A) c.*439T>A (n.*439T>A) c.372T>A (p.Pro124=) c.525T>A (p.Pro175=) c.705T>A (p.Pro235=) | |
| 7 | g.117535283T>C | CA457227123 | CFTR | c.615T>C (p.Pro205=) c.*512T>C (n.*512T>C) c.*439T>C (n.*439T>C) c.372T>C (p.Pro124=) c.525T>C (p.Pro175=) c.705T>C (p.Pro235=) | |
| 7 | g.117535283T>G | CA457227124 | CFTR | c.615T>G (p.Pro205=) c.*512T>G (n.*512T>G) c.*439T>G (n.*439T>G) c.372T>G (p.Pro124=) c.525T>G (p.Pro175=) c.705T>G (p.Pro235=) | |
| 7 | g.117535284T>A | CA368976829 | CFTR | c.616T>A (p.Leu206Met) c.*513T>A (n.*513T>A) c.*440T>A (n.*440T>A) c.373T>A (p.Leu125Met) c.526T>A (p.Leu176Met) c.706T>A (p.Leu236Met) | |
| 7 | g.117535284T>C | CA457227125 | CFTR | c.616T>C (p.Leu206=) c.*513T>C (n.*513T>C) c.*440T>C (n.*440T>C) c.373T>C (p.Leu125=) c.526T>C (p.Leu176=) c.706T>C (p.Leu236=) | |
| 7 | g.117535284T>G | CA368976830 | CFTR | c.616T>G (p.Leu206Val) c.*513T>G (n.*513T>G) c.*440T>G (n.*440T>G) c.373T>G (p.Leu125Val) c.526T>G (p.Leu176Val) c.706T>G (p.Leu236Val) | |
| 7 | g.117535285T>A | CA368976836 | CFTR | c.617T>A (p.Leu206Ter) c.*514T>A (n.*514T>A) c.*441T>A (n.*441T>A) c.374T>A (p.Leu125Ter) c.527T>A (p.Leu176Ter) c.707T>A (p.Leu236Ter) | ClinVar |
| 7 | g.117535285T>C | CA368976838 | CFTR | c.617T>C (p.Leu206Ser) c.*514T>C (n.*514T>C) c.*441T>C (n.*441T>C) c.374T>C (p.Leu125Ser) c.527T>C (p.Leu176Ser) c.707T>C (p.Leu236Ser) | |
| 7 | g.117535285T>G | CA221035 | CFTR | c.617T>G (p.Leu206Trp) c.*514T>G (n.*514T>G) c.*441T>G (n.*441T>G) c.374T>G (p.Leu125Trp) c.527T>G (p.Leu176Trp) c.707T>G (p.Leu236Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535285T= | CA1737362130 | CFTR | c.617T= (p.Leu206=) c.*514T= (n.*514T=) c.*441T= (n.*441T=) c.374T= (p.Leu125=) c.527T= (p.Leu176=) c.707T= (p.Leu236=) | |
| 7 | g.117535286G>A | CA457227128 | CFTR | c.618G>A (p.Leu206=) c.*515G>A (n.*515G>A) c.*442G>A (n.*442G>A) c.375G>A (p.Leu125=) c.528G>A (p.Leu176=) c.708G>A (p.Leu236=) | ClinVar gnomAD v4 |
| 7 | g.117535286G>C | CA368976842 | CFTR | c.618G>C (p.Leu206Phe) c.*515G>C (n.*515G>C) c.*442G>C (n.*442G>C) c.375G>C (p.Leu125Phe) c.528G>C (p.Leu176Phe) c.708G>C (p.Leu236Phe) | dbSNP gnomAD v4 |
| 7 | g.117535286G= | CA1737362131 | CFTR | c.618G= (p.Leu206=) c.*515G= (n.*515G=) c.*442G= (n.*442G=) c.375G= (p.Leu125=) c.528G= (p.Leu176=) c.708G= (p.Leu236=) | |
| 7 | g.117535286G>T | CA327603 | CFTR | c.618G>T (p.Leu206Phe) c.*515G>T (n.*515G>T) c.*442G>T (n.*442G>T) c.375G>T (p.Leu125Phe) c.528G>T (p.Leu176Phe) c.708G>T (p.Leu236Phe) | ClinVar dbSNP |
| 7 | g.117535287C>A | CA368976845 | CFTR | c.619C>A (p.Gln207Lys) c.*516C>A (n.*516C>A) c.*443C>A (n.*443C>A) c.376C>A (p.Gln126Lys) c.529C>A (p.Gln177Lys) c.709C>A (p.Gln237Lys) | ClinVar |
| 7 | g.117535287C= | CA1737362132 | CFTR | c.619C= (p.Gln207=) c.*516C= (n.*516C=) c.*443C= (n.*443C=) c.376C= (p.Gln126=) c.529C= (p.Gln177=) c.709C= (p.Gln237=) | |
| 7 | g.117535287C>G | CA368976847 | CFTR | c.619C>G (p.Gln207Glu) c.*516C>G (n.*516C>G) c.*443C>G (n.*443C>G) c.376C>G (p.Gln126Glu) c.529C>G (p.Gln177Glu) c.709C>G (p.Gln237Glu) | |
| 7 | g.117535287C>T | CA327605 | CFTR | c.619C>T (p.Gln207Ter) c.*516C>T (n.*516C>T) c.*443C>T (n.*443C>T) c.376C>T (p.Gln126Ter) c.529C>T (p.Gln177Ter) c.709C>T (p.Gln237Ter) | ClinVar dbSNP |
| 7 | g.117535288A>C | CA368976851 | CFTR | c.620A>C (p.Gln207Pro) c.*517A>C (n.*517A>C) c.*444A>C (n.*444A>C) c.377A>C (p.Gln126Pro) c.530A>C (p.Gln177Pro) c.710A>C (p.Gln237Pro) | |
| 7 | g.117535288A>G | CA368976848 | CFTR | c.620A>G (p.Gln207Arg) c.*517A>G (n.*517A>G) c.*444A>G (n.*444A>G) c.377A>G (p.Gln126Arg) c.530A>G (p.Gln177Arg) c.710A>G (p.Gln237Arg) | |
| 7 | g.117535288A>T | CA368976849 | CFTR | c.620A>T (p.Gln207Leu) c.*517A>T (n.*517A>T) c.*444A>T (n.*444A>T) c.377A>T (p.Gln126Leu) c.530A>T (p.Gln177Leu) c.710A>T (p.Gln237Leu) | |
| 7 | g.117535289A= | CA1737362133 | CFTR | c.621A= (p.Gln207=) c.*518A= (n.*518A=) c.*445A= (n.*445A=) c.378A= (p.Gln126=) c.531A= (p.Gln177=) c.711A= (p.Gln237=) | |
| 7 | g.117535289A>C | CA368976853 | CFTR | c.621A>C (p.Gln207His) c.*518A>C (n.*518A>C) c.*445A>C (n.*445A>C) c.378A>C (p.Gln126His) c.531A>C (p.Gln177His) c.711A>C (p.Gln237His) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117535289A>G | CA457227130 | CFTR | c.621A>G (p.Gln207=) c.*518A>G (n.*518A>G) c.*445A>G (n.*445A>G) c.378A>G (p.Gln126=) c.531A>G (p.Gln177=) c.711A>G (p.Gln237=) | ClinVar dbSNP |
| 7 | g.117535289A>T | CA368976854 | CFTR | c.621A>T (p.Gln207His) c.*518A>T (n.*518A>T) c.*445A>T (n.*445A>T) c.378A>T (p.Gln126His) c.531A>T (p.Gln177His) c.711A>T (p.Gln237His) | |
| 7 | g.117535290G>A | CA368976856 | CFTR | c.622G>A (p.Val208Met) c.*519G>A (n.*519G>A) c.*446G>A (n.*446G>A) c.379G>A (p.Val127Met) c.532G>A (p.Val178Met) c.712G>A (p.Val238Met) | ClinVar gnomAD v4 |
| 7 | g.117535290G>C | CA368976857 | CFTR | c.622G>C (p.Val208Leu) c.*519G>C (n.*519G>C) c.*446G>C (n.*446G>C) c.379G>C (p.Val127Leu) c.532G>C (p.Val178Leu) c.712G>C (p.Val238Leu) | |
| 7 | g.117535290G>T | CA368976858 | CFTR | c.622G>T (p.Val208Leu) c.*519G>T (n.*519G>T) c.*446G>T (n.*446G>T) c.379G>T (p.Val127Leu) c.532G>T (p.Val178Leu) c.712G>T (p.Val238Leu) | |
| 7 | g.117535291T>A | CA368976859 | CFTR | c.623T>A (p.Val208Glu) c.*520T>A (n.*520T>A) c.*447T>A (n.*447T>A) c.380T>A (p.Val127Glu) c.533T>A (p.Val178Glu) c.713T>A (p.Val238Glu) | |
| 7 | g.117535291T>C | CA4450786 | CFTR | c.623T>C (p.Val208Ala) c.*520T>C (n.*520T>C) c.*447T>C (n.*447T>C) c.380T>C (p.Val127Ala) c.533T>C (p.Val178Ala) c.713T>C (p.Val238Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117535291T>G | CA368976860 | CFTR | c.623T>G (p.Val208Gly) c.*520T>G (n.*520T>G) c.*447T>G (n.*447T>G) c.380T>G (p.Val127Gly) c.533T>G (p.Val178Gly) c.713T>G (p.Val238Gly) | gnomAD v4 |
| 7 | g.117535291T= | CA1737362134 | CFTR | c.623T= (p.Val208=) c.*520T= (n.*520T=) c.*447T= (n.*447T=) c.380T= (p.Val127=) c.533T= (p.Val178=) c.713T= (p.Val238=) | |
| 7 | g.117535292G>A | CA457227133 | CFTR | c.624G>A (p.Val208=) c.*521G>A (n.*521G>A) c.*448G>A (n.*448G>A) c.381G>A (p.Val127=) c.534G>A (p.Val178=) c.714G>A (p.Val238=) | gnomAD v4 |
| 7 | g.117535292G>C | CA457227134 | CFTR | c.624G>C (p.Val208=) c.*521G>C (n.*521G>C) c.*448G>C (n.*448G>C) c.381G>C (p.Val127=) c.534G>C (p.Val178=) c.714G>C (p.Val238=) | |
| 7 | g.117535292G>T | CA457227132 | CFTR | c.624G>T (p.Val208=) c.*521G>T (n.*521G>T) c.*448G>T (n.*448G>T) c.381G>T (p.Val127=) c.534G>T (p.Val178=) c.714G>T (p.Val238=) | |
| 7 | g.117535293G>A | CA368976862 | CFTR | c.625G>A (p.Ala209Thr) c.*522G>A (n.*522G>A) c.*449G>A (n.*449G>A) c.382G>A (p.Ala128Thr) c.535G>A (p.Ala179Thr) c.715G>A (p.Ala239Thr) | dbSNP gnomAD v4 |
| 7 | g.117535293G>C | CA368976865 | CFTR | c.625G>C (p.Ala209Pro) c.*522G>C (n.*522G>C) c.*449G>C (n.*449G>C) c.382G>C (p.Ala128Pro) c.535G>C (p.Ala179Pro) c.715G>C (p.Ala239Pro) | |
| 7 | g.117535293G= | CA1737362135 | CFTR | c.625G= (p.Ala209=) c.*522G= (n.*522G=) c.*449G= (n.*449G=) c.382G= (p.Ala128=) c.535G= (p.Ala179=) c.715G= (p.Ala239=) | |
| 7 | g.117535293G>T | CA327607 | CFTR | c.625G>T (p.Ala209Ser) c.*522G>T (n.*522G>T) c.*449G>T (n.*449G>T) c.382G>T (p.Ala128Ser) c.535G>T (p.Ala179Ser) c.715G>T (p.Ala239Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117535294del | CA2695208300 | CFTR | c.626del (p.Ala209AspfsTer6) c.*523del (n.*523del) c.*450del (n.*450del) c.383del (p.Ala128AspfsTer6) c.536del (p.Ala179AspfsTer6) c.716del (p.Ala239AspfsTer6) | |
| 7 | g.117535294C>A | CA368976868 | CFTR | c.626C>A (p.Ala209Glu) c.*523C>A (n.*523C>A) c.*450C>A (n.*450C>A) c.383C>A (p.Ala128Glu) c.536C>A (p.Ala179Glu) c.716C>A (p.Ala239Glu) | |
| 7 | g.117535294C>G | CA368976871 | CFTR | c.626C>G (p.Ala209Gly) c.*523C>G (n.*523C>G) c.*450C>G (n.*450C>G) c.383C>G (p.Ala128Gly) c.536C>G (p.Ala179Gly) c.716C>G (p.Ala239Gly) | |
| 7 | g.117535294C>T | CA368976870 | CFTR | c.626C>T (p.Ala209Val) c.*523C>T (n.*523C>T) c.*450C>T (n.*450C>T) c.383C>T (p.Ala128Val) c.536C>T (p.Ala179Val) c.716C>T (p.Ala239Val) | ClinVar |
| 7 | g.117535295A= | CA1737362136 | CFTR | c.627A= (p.Ala209=) c.*524A= (n.*524A=) c.*451A= (n.*451A=) c.384A= (p.Ala128=) c.537A= (p.Ala179=) c.717A= (p.Ala239=) | |
| 7 | g.117535295A>C | CA457227136 | CFTR | c.627A>C (p.Ala209=) c.*524A>C (n.*524A>C) c.*451A>C (n.*451A>C) c.384A>C (p.Ala128=) c.537A>C (p.Ala179=) c.717A>C (p.Ala239=) | |
| 7 | g.117535295A>G | CA327609 | CFTR | c.627A>G (p.Ala209=) c.*524A>G (n.*524A>G) c.*451A>G (n.*451A>G) c.384A>G (p.Ala128=) c.537A>G (p.Ala179=) c.717A>G (p.Ala239=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535295A>T | CA457227139 | CFTR | c.627A>T (p.Ala209=) c.*524A>T (n.*524A>T) c.*451A>T (n.*451A>T) c.384A>T (p.Ala128=) c.537A>T (p.Ala179=) c.717A>T (p.Ala239=) | gnomAD v4 |
| 7 | g.117535296C>A | CA368976873 | CFTR | c.628C>A (p.Leu210Ile) c.*525C>A (n.*525C>A) c.*452C>A (n.*452C>A) c.385C>A (p.Leu129Ile) c.538C>A (p.Leu180Ile) c.718C>A (p.Leu240Ile) | ClinVar |
| 7 | g.117535296C= | CA1737362137 | CFTR | c.628C= (p.Leu210=) c.*525C= (n.*525C=) c.*452C= (n.*452C=) c.385C= (p.Leu129=) c.538C= (p.Leu180=) c.718C= (p.Leu240=) | |
| 7 | g.117535296C>G | CA368976874 | CFTR | c.628C>G (p.Leu210Val) c.*525C>G (n.*525C>G) c.*452C>G (n.*452C>G) c.385C>G (p.Leu129Val) c.538C>G (p.Leu180Val) c.718C>G (p.Leu240Val) | |
| 7 | g.117535296C>T | CA4450787 | CFTR | c.628C>T (p.Leu210Phe) c.*525C>T (n.*525C>T) c.*452C>T (n.*452C>T) c.385C>T (p.Leu129Phe) c.538C>T (p.Leu180Phe) c.718C>T (p.Leu240Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117535297T>A | CA368976876 | CFTR | c.629T>A (p.Leu210His) c.*526T>A (n.*526T>A) c.*453T>A (n.*453T>A) c.386T>A (p.Leu129His) c.539T>A (p.Leu180His) c.719T>A (p.Leu240His) | |
| 7 | g.117535297T>C | CA368976878 | CFTR | c.629T>C (p.Leu210Pro) c.*526T>C (n.*526T>C) c.*453T>C (n.*453T>C) c.386T>C (p.Leu129Pro) c.539T>C (p.Leu180Pro) c.719T>C (p.Leu240Pro) | gnomAD v4 |
| 7 | g.117535297T>G | CA368976879 | CFTR | c.629T>G (p.Leu210Arg) c.*526T>G (n.*526T>G) c.*453T>G (n.*453T>G) c.386T>G (p.Leu129Arg) c.539T>G (p.Leu180Arg) c.719T>G (p.Leu240Arg) | |
| 7 | g.117535298C>A | CA457227142 | CFTR | c.630C>A (p.Leu210=) c.*527C>A (n.*527C>A) c.*454C>A (n.*454C>A) c.387C>A (p.Leu129=) c.540C>A (p.Leu180=) c.720C>A (p.Leu240=) | ClinVar |
| 7 | g.117535298C= | CA1737362138 | CFTR | c.630C= (p.Leu210=) c.*527C= (n.*527C=) c.*454C= (n.*454C=) c.387C= (p.Leu129=) c.540C= (p.Leu180=) c.720C= (p.Leu240=) | |
| 7 | g.117535298C>G | CA457227141 | CFTR | c.630C>G (p.Leu210=) c.*527C>G (n.*527C>G) c.*454C>G (n.*454C>G) c.387C>G (p.Leu129=) c.540C>G (p.Leu180=) c.720C>G (p.Leu240=) | |
| 7 | g.117535298C>T | CA457227140 | CFTR | c.630C>T (p.Leu210=) c.*527C>T (n.*527C>T) c.*454C>T (n.*454C>T) c.387C>T (p.Leu129=) c.540C>T (p.Leu180=) c.720C>T (p.Leu240=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 7 | g.117535299C>A | CA368976880 | CFTR | c.631C>A (p.Leu211Ile) c.*528C>A (n.*528C>A) c.*455C>A (n.*455C>A) c.388C>A (p.Leu130Ile) c.541C>A (p.Leu181Ile) c.721C>A (p.Leu241Ile) | |
| 7 | g.117535299C>G | CA368976881 | CFTR | c.631C>G (p.Leu211Val) c.*528C>G (n.*528C>G) c.*455C>G (n.*455C>G) c.388C>G (p.Leu130Val) c.541C>G (p.Leu181Val) c.721C>G (p.Leu241Val) | |
| 7 | g.117535299C>T | CA368976882 | CFTR | c.631C>T (p.Leu211Phe) c.*528C>T (n.*528C>T) c.*455C>T (n.*455C>T) c.388C>T (p.Leu130Phe) c.541C>T (p.Leu181Phe) c.721C>T (p.Leu241Phe) | |
| 7 | g.117535300T>A | CA368976884 | CFTR | c.632T>A (p.Leu211His) c.*529T>A (n.*529T>A) c.*456T>A (n.*456T>A) c.389T>A (p.Leu130His) c.542T>A (p.Leu181His) c.722T>A (p.Leu241His) | |
| 7 | g.117535300T>C | CA368976885 | CFTR | c.632T>C (p.Leu211Pro) c.*529T>C (n.*529T>C) c.*456T>C (n.*456T>C) c.389T>C (p.Leu130Pro) c.542T>C (p.Leu181Pro) c.722T>C (p.Leu241Pro) | gnomAD v4 |
| 7 | g.117535300T>G | CA368976887 | CFTR | c.632T>G (p.Leu211Arg) c.*529T>G (n.*529T>G) c.*456T>G (n.*456T>G) c.389T>G (p.Leu130Arg) c.542T>G (p.Leu181Arg) c.722T>G (p.Leu241Arg) | |
| 7 | g.117535301C>A | CA457227146 | CFTR | c.633C>A (p.Leu211=) c.*530C>A (n.*530C>A) c.*457C>A (n.*457C>A) c.390C>A (p.Leu130=) c.543C>A (p.Leu181=) c.723C>A (p.Leu241=) | |
| 7 | g.117535301C>G | CA457227147 | CFTR | c.633C>G (p.Leu211=) c.*530C>G (n.*530C>G) c.*457C>G (n.*457C>G) c.390C>G (p.Leu130=) c.543C>G (p.Leu181=) c.723C>G (p.Leu241=) | |
| 7 | g.117535301C>T | CA457227148 | CFTR | c.633C>T (p.Leu211=) c.*530C>T (n.*530C>T) c.*457C>T (n.*457C>T) c.390C>T (p.Leu130=) c.543C>T (p.Leu181=) c.723C>T (p.Leu241=) | ClinVar dbSNP COSMIC |
| 7 | g.117535302A= | CA1737362139 | CFTR | c.634A= (p.Met212=) c.*531A= (n.*531A=) c.*458A= (n.*458A=) c.391A= (p.Met131=) c.544A= (p.Met182=) c.724A= (p.Met242=) | |
| 7 | g.117535302A>C | CA368976892 | CFTR | c.634A>C (p.Met212Leu) c.*531A>C (n.*531A>C) c.*458A>C (n.*458A>C) c.391A>C (p.Met131Leu) c.544A>C (p.Met182Leu) c.724A>C (p.Met242Leu) | |
| 7 | g.117535302A>G | CA4450788 | CFTR | c.634A>G (p.Met212Val) c.*531A>G (n.*531A>G) c.*458A>G (n.*458A>G) c.391A>G (p.Met131Val) c.544A>G (p.Met182Val) c.724A>G (p.Met242Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535302A>T | CA368976889 | CFTR | c.634A>T (p.Met212Leu) c.*531A>T (n.*531A>T) c.*458A>T (n.*458A>T) c.391A>T (p.Met131Leu) c.544A>T (p.Met182Leu) c.724A>T (p.Met242Leu) | gnomAD v4 |
| 7 | g.117535303T>A | CA368976894 | CFTR | c.635T>A (p.Met212Lys) c.*532T>A (n.*532T>A) c.*459T>A (n.*459T>A) c.392T>A (p.Met131Lys) c.545T>A (p.Met182Lys) c.725T>A (p.Met242Lys) | |
| 7 | g.117535303T>C | CA368976895 | CFTR | c.635T>C (p.Met212Thr) c.*532T>C (n.*532T>C) c.*459T>C (n.*459T>C) c.392T>C (p.Met131Thr) c.545T>C (p.Met182Thr) c.725T>C (p.Met242Thr) | ClinVar |
| 7 | g.117535303T>G | CA368976897 | CFTR | c.635T>G (p.Met212Arg) c.*532T>G (n.*532T>G) c.*459T>G (n.*459T>G) c.392T>G (p.Met131Arg) c.545T>G (p.Met182Arg) c.725T>G (p.Met242Arg) | |
| 7 | g.117535304G>A | CA368976899 | CFTR | c.636G>A (p.Met212Ile) c.*533G>A (n.*533G>A) c.*460G>A (n.*460G>A) c.393G>A (p.Met131Ile) c.546G>A (p.Met182Ile) c.726G>A (p.Met242Ile) | gnomAD v4 |
| 7 | g.117535304G>C | CA368976901 | CFTR | c.636G>C (p.Met212Ile) c.*533G>C (n.*533G>C) c.*460G>C (n.*460G>C) c.393G>C (p.Met131Ile) c.546G>C (p.Met182Ile) c.726G>C (p.Met242Ile) | |
| 7 | g.117535304G>T | CA368976903 | CFTR | c.636G>T (p.Met212Ile) c.*533G>T (n.*533G>T) c.*460G>T (n.*460G>T) c.393G>T (p.Met131Ile) c.546G>T (p.Met182Ile) c.726G>T (p.Met242Ile) | |
| 7 | g.117535305G>A | CA368976905 | CFTR | c.637G>A (p.Gly213Arg) c.*534G>A (n.*534G>A) c.*461G>A (n.*461G>A) c.394G>A (p.Gly132Arg) c.547G>A (p.Gly183Arg) c.727G>A (p.Gly243Arg) | |
| 7 | g.117535305G>C | CA368976907 | CFTR | c.637G>C (p.Gly213Arg) c.*534G>C (n.*534G>C) c.*461G>C (n.*461G>C) c.394G>C (p.Gly132Arg) c.547G>C (p.Gly183Arg) c.727G>C (p.Gly243Arg) | |
| 7 | g.117535305G>T | CA368976908 | CFTR | c.637G>T (p.Gly213Trp) c.*534G>T (n.*534G>T) c.*461G>T (n.*461G>T) c.394G>T (p.Gly132Trp) c.547G>T (p.Gly183Trp) c.727G>T (p.Gly243Trp) | |
| 7 | g.117535306G>A | CA4450789 | CFTR | c.638G>A (p.Gly213Glu) c.*535G>A (n.*535G>A) c.*462G>A (n.*462G>A) c.395G>A (p.Gly132Glu) c.548G>A (p.Gly183Glu) c.728G>A (p.Gly243Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535306G>C | CA368976911 | CFTR | c.638G>C (p.Gly213Ala) c.*535G>C (n.*535G>C) c.*462G>C (n.*462G>C) c.395G>C (p.Gly132Ala) c.548G>C (p.Gly183Ala) c.728G>C (p.Gly243Ala) | |
| 7 | g.117535306G= | CA1737362140 | CFTR | c.638G= (p.Gly213=) c.*535G= (n.*535G=) c.*462G= (n.*462G=) c.395G= (p.Gly132=) c.548G= (p.Gly183=) c.728G= (p.Gly243=) | |
| 7 | g.117535306G>T | CA368976913 | CFTR | c.638G>T (p.Gly213Val) c.*535G>T (n.*535G>T) c.*462G>T (n.*462G>T) c.395G>T (p.Gly132Val) c.548G>T (p.Gly183Val) c.728G>T (p.Gly243Val) | gnomAD v4 |
| 7 | g.117535307G>A | CA4450790 | CFTR | c.639G>A (p.Gly213=) c.*536G>A (n.*536G>A) c.*463G>A (n.*463G>A) c.396G>A (p.Gly132=) c.549G>A (p.Gly183=) c.729G>A (p.Gly243=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117535307G>C | CA457227150 | CFTR | c.639G>C (p.Gly213=) c.*536G>C (n.*536G>C) c.*463G>C (n.*463G>C) c.396G>C (p.Gly132=) c.549G>C (p.Gly183=) c.729G>C (p.Gly243=) | |
| 7 | g.117535307G= | CA1737362141 | CFTR | c.639G= (p.Gly213=) c.*536G= (n.*536G=) c.*463G= (n.*463G=) c.396G= (p.Gly132=) c.549G= (p.Gly183=) c.729G= (p.Gly243=) | |
| 7 | g.117535307G>T | CA457227151 | CFTR | c.639G>T (p.Gly213=) c.*536G>T (n.*536G>T) c.*463G>T (n.*463G>T) c.396G>T (p.Gly132=) c.549G>T (p.Gly183=) c.729G>T (p.Gly243=) | |
| 7 | g.117535308C>A | CA368976916 | CFTR | c.640C>A (p.Leu214Ile) c.*537C>A (n.*537C>A) c.*464C>A (n.*464C>A) c.397C>A (p.Leu133Ile) c.550C>A (p.Leu184Ile) c.730C>A (p.Leu244Ile) | dbSNP |
| 7 | g.117535308C= | CA1737362142 | CFTR | c.640C= (p.Leu214=) c.*537C= (n.*537C=) c.*464C= (n.*464C=) c.397C= (p.Leu133=) c.550C= (p.Leu184=) c.730C= (p.Leu244=) | |
| 7 | g.117535308C>G | CA4450791 | CFTR | c.640C>G (p.Leu214Val) c.*537C>G (n.*537C>G) c.*464C>G (n.*464C>G) c.397C>G (p.Leu133Val) c.550C>G (p.Leu184Val) c.730C>G (p.Leu244Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117535308C>T | CA4450792 | CFTR | c.640C>T (p.Leu214=) c.*537C>T (n.*537C>T) c.*464C>T (n.*464C>T) c.397C>T (p.Leu133=) c.550C>T (p.Leu184=) c.730C>T (p.Leu244=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535309T>A | CA368976918 | CFTR | c.641T>A (p.Leu214Gln) c.*538T>A (n.*538T>A) c.*465T>A (n.*465T>A) c.398T>A (p.Leu133Gln) c.551T>A (p.Leu184Gln) c.731T>A (p.Leu244Gln) | |
| 7 | g.117535309T>C | CA368976921 | CFTR | c.641T>C (p.Leu214Pro) c.*538T>C (n.*538T>C) c.*465T>C (n.*465T>C) c.398T>C (p.Leu133Pro) c.551T>C (p.Leu184Pro) c.731T>C (p.Leu244Pro) | |
| 7 | g.117535309T>G | CA368976923 | CFTR | c.641T>G (p.Leu214Arg) c.*538T>G (n.*538T>G) c.*465T>G (n.*465T>G) c.398T>G (p.Leu133Arg) c.551T>G (p.Leu184Arg) c.731T>G (p.Leu244Arg) | |
| 7 | g.117535310A= | CA1737362143 | CFTR | c.642A= (p.Leu214=) c.*539A= (n.*539A=) c.*466A= (n.*466A=) c.399A= (p.Leu133=) c.552A= (p.Leu184=) c.732A= (p.Leu244=) | |
| 7 | g.117535310A>C | CA457227155 | CFTR | c.642A>C (p.Leu214=) c.*539A>C (n.*539A>C) c.*466A>C (n.*466A>C) c.399A>C (p.Leu133=) c.552A>C (p.Leu184=) c.732A>C (p.Leu244=) | gnomAD v4 |
| 7 | g.117535310A>G | CA4450793 | CFTR | c.642A>G (p.Leu214=) c.*539A>G (n.*539A>G) c.*466A>G (n.*466A>G) c.399A>G (p.Leu133=) c.552A>G (p.Leu184=) c.732A>G (p.Leu244=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117535310A>T | CA457227156 | CFTR | c.642A>T (p.Leu214=) c.*539A>T (n.*539A>T) c.*466A>T (n.*466A>T) c.399A>T (p.Leu133=) c.552A>T (p.Leu184=) c.732A>T (p.Leu244=) | |
| 7 | g.117535310_117535311insT | CA327611 | CFTR | c.642_643insT (p.Ile215TyrfsTer?) c.*539_*540insT (n.*539_*540insT) c.*466_*467insT (n.*466_*467insT) c.399_400insT (p.Ile134TyrfsTer?) c.552_553insT (p.Ile185TyrfsTer?) c.732_733insT (p.Ile245TyrfsTer?) | ClinVar dbSNP |
| 7 | g.117535311A>C | CA368976928 | CFTR | c.643A>C (p.Ile215Leu) c.*540A>C (n.*540A>C) c.*467A>C (n.*467A>C) c.400A>C (p.Ile134Leu) c.553A>C (p.Ile185Leu) c.733A>C (p.Ile245Leu) | |
| 7 | g.117535311A>G | CA368976930 | CFTR | c.643A>G (p.Ile215Val) c.*540A>G (n.*540A>G) c.*467A>G (n.*467A>G) c.400A>G (p.Ile134Val) c.553A>G (p.Ile185Val) c.733A>G (p.Ile245Val) | gnomAD v4 |
| 7 | g.117535311A>T | CA368976932 | CFTR | c.643A>T (p.Ile215Phe) c.*540A>T (n.*540A>T) c.*467A>T (n.*467A>T) c.400A>T (p.Ile134Phe) c.553A>T (p.Ile185Phe) c.733A>T (p.Ile245Phe) | |
| 7 | g.117535312T>A | CA368976934 | CFTR | c.644T>A (p.Ile215Asn) c.*541T>A (n.*541T>A) c.*468T>A (n.*468T>A) c.401T>A (p.Ile134Asn) c.554T>A (p.Ile185Asn) c.734T>A (p.Ile245Asn) | |
| 7 | g.117535312T>C | CA368976936 | CFTR | c.644T>C (p.Ile215Thr) c.*541T>C (n.*541T>C) c.*468T>C (n.*468T>C) c.401T>C (p.Ile134Thr) c.554T>C (p.Ile185Thr) c.734T>C (p.Ile245Thr) | |
| 7 | g.117535312T>G | CA368976938 | CFTR | c.644T>G (p.Ile215Ser) c.*541T>G (n.*541T>G) c.*468T>G (n.*468T>G) c.401T>G (p.Ile134Ser) c.554T>G (p.Ile185Ser) c.734T>G (p.Ile245Ser) | |
| 7 | g.117535313C>A | CA457227160 | CFTR | c.645C>A (p.Ile215=) c.*542C>A (n.*542C>A) c.*469C>A (n.*469C>A) c.402C>A (p.Ile134=) c.555C>A (p.Ile185=) c.735C>A (p.Ile245=) | |
| 7 | g.117535313C>G | CA368976939 | CFTR | c.645C>G (p.Ile215Met) c.*542C>G (n.*542C>G) c.*469C>G (n.*469C>G) c.402C>G (p.Ile134Met) c.555C>G (p.Ile185Met) c.735C>G (p.Ile245Met) | |
| 7 | g.117535313C>T | CA457227158 | CFTR | c.645C>T (p.Ile215=) c.*542C>T (n.*542C>T) c.*469C>T (n.*469C>T) c.402C>T (p.Ile134=) c.555C>T (p.Ile185=) c.735C>T (p.Ile245=) | ClinVar |
| 7 | g.117535314T>A | CA368976944 | CFTR | c.646T>A (p.Trp216Arg) c.*543T>A (n.*543T>A) c.*470T>A (n.*470T>A) c.403T>A (p.Trp135Arg) c.556T>A (p.Trp186Arg) c.736T>A (p.Trp246Arg) | |
| 7 | g.117535314T>C | CA368976941 | CFTR | c.646T>C (p.Trp216Arg) c.*543T>C (n.*543T>C) c.*470T>C (n.*470T>C) c.403T>C (p.Trp135Arg) c.556T>C (p.Trp186Arg) c.736T>C (p.Trp246Arg) | ClinVar dbSNP |
| 7 | g.117535314T>G | CA368976942 | CFTR | c.646T>G (p.Trp216Gly) c.*543T>G (n.*543T>G) c.*470T>G (n.*470T>G) c.403T>G (p.Trp135Gly) c.556T>G (p.Trp186Gly) c.736T>G (p.Trp246Gly) | |
| 7 | g.117535314T= | CA1737362144 | CFTR | c.646T= (p.Trp216=) c.*543T= (n.*543T=) c.*470T= (n.*470T=) c.403T= (p.Trp135=) c.556T= (p.Trp186=) c.736T= (p.Trp246=) | |
| 7 | g.117535315G>A | CA327612 | CFTR | c.647G>A (p.Trp216Ter) c.*544G>A (n.*544G>A) c.*471G>A (n.*471G>A) c.404G>A (p.Trp135Ter) c.557G>A (p.Trp186Ter) c.737G>A (p.Trp246Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117535315G>C | CA368976946 | CFTR | c.647G>C (p.Trp216Ser) c.*544G>C (n.*544G>C) c.*471G>C (n.*471G>C) c.404G>C (p.Trp135Ser) c.557G>C (p.Trp186Ser) c.737G>C (p.Trp246Ser) | ClinVar gnomAD v4 |
| 7 | g.117535315G= | CA1737362145 | CFTR | c.647G= (p.Trp216=) c.*544G= (n.*544G=) c.*471G= (n.*471G=) c.404G= (p.Trp135=) c.557G= (p.Trp186=) c.737G= (p.Trp246=) | |
| 7 | g.117535315G>T | CA368976947 | CFTR | c.647G>T (p.Trp216Leu) c.*544G>T (n.*544G>T) c.*471G>T (n.*471G>T) c.404G>T (p.Trp135Leu) c.557G>T (p.Trp186Leu) c.737G>T (p.Trp246Leu) | |
| 7 | g.117535316G>A | CA368976948 | CFTR | c.648G>A (p.Trp216Ter) c.*545G>A (n.*545G>A) c.*472G>A (n.*472G>A) c.405G>A (p.Trp135Ter) c.558G>A (p.Trp186Ter) c.738G>A (p.Trp246Ter) | |
| 7 | g.117535316G>C | CA368976949 | CFTR | c.648G>C (p.Trp216Cys) c.*545G>C (n.*545G>C) c.*472G>C (n.*472G>C) c.405G>C (p.Trp135Cys) c.558G>C (p.Trp186Cys) c.738G>C (p.Trp246Cys) | |
| 7 | g.117535316G= | CA1737362146 | CFTR | c.648G= (p.Trp216=) c.*545G= (n.*545G=) c.*472G= (n.*472G=) c.405G= (p.Trp135=) c.558G= (p.Trp186=) c.738G= (p.Trp246=) | |
| 7 | g.117535316G>T | CA327614 | CFTR | c.648G>T (p.Trp216Cys) c.*545G>T (n.*545G>T) c.*472G>T (n.*472G>T) c.405G>T (p.Trp135Cys) c.558G>T (p.Trp186Cys) c.738G>T (p.Trp246Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117535317G>A | CA368976950 | CFTR | c.649G>A (p.Glu217Lys) c.*546G>A (n.*546G>A) c.*473G>A (n.*473G>A) c.406G>A (p.Glu136Lys) c.559G>A (p.Glu187Lys) c.739G>A (p.Glu247Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117535317G>C | CA368976951 | CFTR | c.649G>C (p.Glu217Gln) c.*546G>C (n.*546G>C) c.*473G>C (n.*473G>C) c.406G>C (p.Glu136Gln) c.559G>C (p.Glu187Gln) c.739G>C (p.Glu247Gln) | |
| 7 | g.117535317G= | CA1737362147 | CFTR | c.649G= (p.Glu217=) c.*546G= (n.*546G=) c.*473G= (n.*473G=) c.406G= (p.Glu136=) c.559G= (p.Glu187=) c.739G= (p.Glu247=) | |
| 7 | g.117535317G>T | CA368976952 | CFTR | c.649G>T (p.Glu217Ter) c.*546G>T (n.*546G>T) c.*473G>T (n.*473G>T) c.406G>T (p.Glu136Ter) c.559G>T (p.Glu187Ter) c.739G>T (p.Glu247Ter) | gnomAD v4 |
| 7 | g.117535318A= | CA1737362148 | CFTR | c.650A= (p.Glu217=) c.*547A= (n.*547A=) c.*474A= (n.*474A=) c.407A= (p.Glu136=) c.560A= (p.Glu187=) c.740A= (p.Glu247=) | |
| 7 | g.117535318A>C | CA368976953 | CFTR | c.650A>C (p.Glu217Ala) c.*547A>C (n.*547A>C) c.*474A>C (n.*474A>C) c.407A>C (p.Glu136Ala) c.560A>C (p.Glu187Ala) c.740A>C (p.Glu247Ala) | |
| 7 | g.117535318A>G | CA254120 | CFTR | c.650A>G (p.Glu217Gly) c.*547A>G (n.*547A>G) c.*474A>G (n.*474A>G) c.407A>G (p.Glu136Gly) c.560A>G (p.Glu187Gly) c.740A>G (p.Glu247Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535318A>T | CA368976954 | CFTR | c.650A>T (p.Glu217Val) c.*547A>T (n.*547A>T) c.*474A>T (n.*474A>T) c.407A>T (p.Glu136Val) c.560A>T (p.Glu187Val) c.740A>T (p.Glu247Val) | |
| 7 | g.117535318_117535327del | CA2695208301 | CFTR | c.650_659del (p.Glu217GlyfsTer11) c.*547_*556del (n.*547_*556del) c.*474_*483del (n.*474_*483del) c.407_416del (p.Glu136GlyfsTer11) c.560_569del (p.Glu187GlyfsTer11) c.740_749del (p.Glu247GlyfsTer11) | |
| 7 | g.117535319G>A | CA457227163 | CFTR | c.651G>A (p.Glu217=) c.*548G>A (n.*548G>A) c.*475G>A (n.*475G>A) c.408G>A (p.Glu136=) c.561G>A (p.Glu187=) c.741G>A (p.Glu247=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117535319G>C | CA368976956 | CFTR | c.651G>C (p.Glu217Asp) c.*548G>C (n.*548G>C) c.*475G>C (n.*475G>C) c.408G>C (p.Glu136Asp) c.561G>C (p.Glu187Asp) c.741G>C (p.Glu247Asp) | |
| 7 | g.117535319G= | CA1737362149 | CFTR | c.651G= (p.Glu217=) c.*548G= (n.*548G=) c.*475G= (n.*475G=) c.408G= (p.Glu136=) c.561G= (p.Glu187=) c.741G= (p.Glu247=) | |
| 7 | g.117535319G>T | CA368976955 | CFTR | c.651G>T (p.Glu217Asp) c.*548G>T (n.*548G>T) c.*475G>T (n.*475G>T) c.408G>T (p.Glu136Asp) c.561G>T (p.Glu187Asp) c.741G>T (p.Glu247Asp) | |
| 7 | g.117535320T>A | CA368976957 | CFTR | c.652T>A (p.Leu218Met) c.*549T>A (n.*549T>A) c.*476T>A (n.*476T>A) c.409T>A (p.Leu137Met) c.562T>A (p.Leu188Met) c.742T>A (p.Leu248Met) | |
| 7 | g.117535320T>C | CA457227164 | CFTR | c.652T>C (p.Leu218=) c.*549T>C (n.*549T>C) c.*476T>C (n.*476T>C) c.409T>C (p.Leu137=) c.562T>C (p.Leu188=) c.742T>C (p.Leu248=) | ClinVar dbSNP |
| 7 | g.117535320T>G | CA368976958 | CFTR | c.652T>G (p.Leu218Val) c.*549T>G (n.*549T>G) c.*476T>G (n.*476T>G) c.409T>G (p.Leu137Val) c.562T>G (p.Leu188Val) c.742T>G (p.Leu248Val) | dbSNP |
| 7 | g.117535320T= | CA1737362150 | CFTR | c.652T= (p.Leu218=) c.*549T= (n.*549T=) c.*476T= (n.*476T=) c.409T= (p.Leu137=) c.562T= (p.Leu188=) c.742T= (p.Leu248=) | |
| 7 | g.117535321T>A | CA327616 | CFTR | c.653T>A (p.Leu218Ter) c.*550T>A (n.*550T>A) c.*477T>A (n.*477T>A) c.410T>A (p.Leu137Ter) c.563T>A (p.Leu188Ter) c.743T>A (p.Leu248Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117535321T>C | CA368976959 | CFTR | c.653T>C (p.Leu218Ser) c.*550T>C (n.*550T>C) c.*477T>C (n.*477T>C) c.410T>C (p.Leu137Ser) c.563T>C (p.Leu188Ser) c.743T>C (p.Leu248Ser) | |
| 7 | g.117535321T>G | CA368976960 | CFTR | c.653T>G (p.Leu218Trp) c.*550T>G (n.*550T>G) c.*477T>G (n.*477T>G) c.410T>G (p.Leu137Trp) c.563T>G (p.Leu188Trp) c.743T>G (p.Leu248Trp) | |
| 7 | g.117535321T= | CA1737362151 | CFTR | c.653T= (p.Leu218=) c.*550T= (n.*550T=) c.*477T= (n.*477T=) c.410T= (p.Leu137=) c.563T= (p.Leu188=) c.743T= (p.Leu248=) |