| 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.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=) | |
| 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=) |