| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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=) | |
| 7 | g.117535322G>A | CA457227168 | CFTR | c.654G>A (p.Leu218=) c.*551G>A (n.*551G>A) c.*478G>A (n.*478G>A) c.411G>A (p.Leu137=) c.564G>A (p.Leu188=) c.744G>A (p.Leu248=) | |
| 7 | g.117535322G>C | CA368976961 | CFTR | c.654G>C (p.Leu218Phe) c.*551G>C (n.*551G>C) c.*478G>C (n.*478G>C) c.411G>C (p.Leu137Phe) c.564G>C (p.Leu188Phe) c.744G>C (p.Leu248Phe) | |
| 7 | g.117535322G>T | CA368976962 | CFTR | c.654G>T (p.Leu218Phe) c.*551G>T (n.*551G>T) c.*478G>T (n.*478G>T) c.411G>T (p.Leu137Phe) c.564G>T (p.Leu188Phe) c.744G>T (p.Leu248Phe) | |
| 7 | g.117535322_117535323delinsGT | CA1737362152 | CFTR | c.654_655delinsGT (p.Leu218=) c.*551_*552delinsGT (n.*551_*552delinsGT) c.*478_*479delinsGT (n.*478_*479delinsGT) c.411_412delinsGT (p.Leu137=) c.564_565delinsGT (p.Leu188=) c.744_745delinsGT (p.Leu248=) | |
| 7 | g.117535323T>A | CA368976963 | CFTR | c.655T>A (p.Leu219Ile) c.*552T>A (n.*552T>A) c.*479T>A (n.*479T>A) c.412T>A (p.Leu138Ile) c.565T>A (p.Leu189Ile) c.745T>A (p.Leu249Ile) | |
| 7 | g.117535323T>C | CA457227169 | CFTR | c.655T>C (p.Leu219=) c.*552T>C (n.*552T>C) c.*479T>C (n.*479T>C) c.412T>C (p.Leu138=) c.565T>C (p.Leu189=) c.745T>C (p.Leu249=) | ClinVar gnomAD v4 |
| 7 | g.117535323T>G | CA368976964 | CFTR | c.655T>G (p.Leu219Val) c.*552T>G (n.*552T>G) c.*479T>G (n.*479T>G) c.412T>G (p.Leu138Val) c.565T>G (p.Leu189Val) c.745T>G (p.Leu249Val) |