| 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.117536629C>A | CA368977492 | CFTR | c.825C>A (p.Tyr275Ter) c.*722C>A (n.*722C>A) c.*649C>A (n.*649C>A) c.582C>A (p.Tyr194Ter) c.735C>A (p.Tyr245Ter) c.915C>A (p.Tyr305Ter) | |
| 7 | g.117536629C= | CA1737327190 | CFTR | c.825C= (p.Tyr275=) c.*722C= (n.*722C=) c.*649C= (n.*649C=) c.582C= (p.Tyr194=) c.735C= (p.Tyr245=) c.915C= (p.Tyr305=) | |
| 7 | g.117536629C>G | CA325712 | CFTR | c.825C>G (p.Tyr275Ter) c.*722C>G (n.*722C>G) c.*649C>G (n.*649C>G) c.582C>G (p.Tyr194Ter) c.735C>G (p.Tyr245Ter) c.915C>G (p.Tyr305Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117536629C>T | CA457227403 | CFTR | c.825C>T (p.Tyr275=) c.*722C>T (n.*722C>T) c.*649C>T (n.*649C>T) c.582C>T (p.Tyr194=) c.735C>T (p.Tyr245=) c.915C>T (p.Tyr305=) | ClinVar |
| 7 | g.117536630T>A | CA368977493 | CFTR | c.826T>A (p.Cys276Ser) c.*723T>A (n.*723T>A) c.*650T>A (n.*650T>A) c.583T>A (p.Cys195Ser) c.736T>A (p.Cys246Ser) c.916T>A (p.Cys306Ser) | COSMIC |
| 7 | g.117536630T>C | CA368977494 | CFTR | c.826T>C (p.Cys276Arg) c.*723T>C (n.*723T>C) c.*650T>C (n.*650T>C) c.583T>C (p.Cys195Arg) c.736T>C (p.Cys246Arg) c.916T>C (p.Cys306Arg) | |
| 7 | g.117536630T>G | CA368977495 | CFTR | c.826T>G (p.Cys276Gly) c.*723T>G (n.*723T>G) c.*650T>G (n.*650T>G) c.583T>G (p.Cys195Gly) c.736T>G (p.Cys246Gly) c.916T>G (p.Cys306Gly) | |
| 7 | g.117536631G>A | CA368977496 | CFTR | c.827G>A (p.Cys276Tyr) c.*724G>A (n.*724G>A) c.*651G>A (n.*651G>A) c.584G>A (p.Cys195Tyr) c.737G>A (p.Cys246Tyr) c.917G>A (p.Cys306Tyr) | dbSNP |
| 7 | g.117536631G>C | CA368977497 | CFTR | c.827G>C (p.Cys276Ser) c.*724G>C (n.*724G>C) c.*651G>C (n.*651G>C) c.584G>C (p.Cys195Ser) c.737G>C (p.Cys246Ser) c.917G>C (p.Cys306Ser) | |
| 7 | g.117536631G= | CA1737327202 | CFTR | c.827G= (p.Cys276=) c.*724G= (n.*724G=) c.*651G= (n.*651G=) c.584G= (p.Cys195=) c.737G= (p.Cys246=) c.917G= (p.Cys306=) | |
| 7 | g.117536631G>T | CA368977498 | CFTR | c.827G>T (p.Cys276Phe) c.*724G>T (n.*724G>T) c.*651G>T (n.*651G>T) c.584G>T (p.Cys195Phe) c.737G>T (p.Cys246Phe) c.917G>T (p.Cys306Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117536632C>A | CA327661 | CFTR | c.828C>A (p.Cys276Ter) c.*725C>A (n.*725C>A) c.*652C>A (n.*652C>A) c.585C>A (p.Cys195Ter) c.738C>A (p.Cys246Ter) c.918C>A (p.Cys306Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117536632C= | CA1737327210 | CFTR | c.828C= (p.Cys276=) c.*725C= (n.*725C=) c.*652C= (n.*652C=) c.585C= (p.Cys195=) c.738C= (p.Cys246=) c.918C= (p.Cys306=) | |
| 7 | g.117536632C>G | CA368977499 | CFTR | c.828C>G (p.Cys276Trp) c.*725C>G (n.*725C>G) c.*652C>G (n.*652C>G) c.585C>G (p.Cys195Trp) c.738C>G (p.Cys246Trp) c.918C>G (p.Cys306Trp) | |
| 7 | g.117536632C>T | CA457227408 | CFTR | c.828C>T (p.Cys276=) c.*725C>T (n.*725C>T) c.*652C>T (n.*652C>T) c.585C>T (p.Cys195=) c.738C>T (p.Cys246=) c.918C>T (p.Cys306=) | |
| 7 | g.117536633T>A | CA327663 | CFTR | c.829T>A (p.Trp277Arg) c.*726T>A (n.*726T>A) c.*653T>A (n.*653T>A) c.586T>A (p.Trp196Arg) c.739T>A (p.Trp247Arg) c.919T>A (p.Trp307Arg) | ClinVar dbSNP |
| 7 | g.117536633T>C | CA368977500 | CFTR | c.829T>C (p.Trp277Arg) c.*726T>C (n.*726T>C) c.*653T>C (n.*653T>C) c.586T>C (p.Trp196Arg) c.739T>C (p.Trp247Arg) c.919T>C (p.Trp307Arg) | |
| 7 | g.117536633T>G | CA368977501 | CFTR | c.829T>G (p.Trp277Gly) c.*726T>G (n.*726T>G) c.*653T>G (n.*653T>G) c.586T>G (p.Trp196Gly) c.739T>G (p.Trp247Gly) c.919T>G (p.Trp307Gly) | |
| 7 | g.117536633T= | CA1737327223 | CFTR | c.829T= (p.Trp277=) c.*726T= (n.*726T=) c.*653T= (n.*653T=) c.586T= (p.Trp196=) c.739T= (p.Trp247=) c.919T= (p.Trp307=) | |
| 7 | g.117536634G>A | CA273036 | CFTR | c.830G>A (p.Trp277Ter) c.*727G>A (n.*727G>A) c.*654G>A (n.*654G>A) c.587G>A (p.Trp196Ter) c.740G>A (p.Trp247Ter) c.920G>A (p.Trp307Ter) | ClinVar dbSNP |
| 7 | g.117536634G>C | CA368977503 | CFTR | c.830G>C (p.Trp277Ser) c.*727G>C (n.*727G>C) c.*654G>C (n.*654G>C) c.587G>C (p.Trp196Ser) c.740G>C (p.Trp247Ser) c.920G>C (p.Trp307Ser) | ClinVar gnomAD v4 |
| 7 | g.117536634G= | CA1737327232 | CFTR | c.830G= (p.Trp277=) c.*727G= (n.*727G=) c.*654G= (n.*654G=) c.587G= (p.Trp196=) c.740G= (p.Trp247=) c.920G= (p.Trp307=) | |
| 7 | g.117536634G>T | CA368977502 | CFTR | c.830G>T (p.Trp277Leu) c.*727G>T (n.*727G>T) c.*654G>T (n.*654G>T) c.587G>T (p.Trp196Leu) c.740G>T (p.Trp247Leu) c.920G>T (p.Trp307Leu) | COSMIC |
| 7 | g.117536635G>A | CA368977504 | CFTR | c.831G>A (p.Trp277Ter) c.*728G>A (n.*728G>A) c.*655G>A (n.*655G>A) c.588G>A (p.Trp196Ter) c.741G>A (p.Trp247Ter) c.921G>A (p.Trp307Ter) | ClinVar dbSNP |
| 7 | g.117536635G>C | CA368977505 | CFTR | c.831G>C (p.Trp277Cys) c.*728G>C (n.*728G>C) c.*655G>C (n.*655G>C) c.588G>C (p.Trp196Cys) c.741G>C (p.Trp247Cys) c.921G>C (p.Trp307Cys) | |
| 7 | g.117536635G>T | CA368977506 | CFTR | c.831G>T (p.Trp277Cys) c.*728G>T (n.*728G>T) c.*655G>T (n.*655G>T) c.588G>T (p.Trp196Cys) c.741G>T (p.Trp247Cys) c.921G>T (p.Trp307Cys) | |
| 7 | g.117536635_117536638delinsGGAA | CA1737327244 | CFTR | c.831_834delinsGGAA (p.Trp277=) c.*728_*731delinsGGAA (n.*728_*731delinsGGAA) c.*655_*658delinsGGAA (n.*655_*658delinsGGAA) c.588_591delinsGGAA (p.Trp196=) c.741_744delinsGGAA (p.Trp247=) c.921_924delinsGGAA (p.Trp307=) | |
| 7 | g.117536636G>A | CA368977507 | CFTR | c.832G>A (p.Glu278Lys) c.*729G>A (n.*729G>A) c.*656G>A (n.*656G>A) c.589G>A (p.Glu197Lys) c.742G>A (p.Glu248Lys) c.922G>A (p.Glu308Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117536636G>C | CA368977508 | CFTR | c.832G>C (p.Glu278Gln) c.*729G>C (n.*729G>C) c.*656G>C (n.*656G>C) c.589G>C (p.Glu197Gln) c.742G>C (p.Glu248Gln) c.922G>C (p.Glu308Gln) | |
| 7 | g.117536636G= | CA1737327250 | CFTR | c.832G= (p.Glu278=) c.*729G= (n.*729G=) c.*656G= (n.*656G=) c.589G= (p.Glu197=) c.742G= (p.Glu248=) c.922G= (p.Glu308=) | |
| 7 | g.117536636G>T | CA368977509 | CFTR | c.832G>T (p.Glu278Ter) c.*729G>T (n.*729G>T) c.*656G>T (n.*656G>T) c.589G>T (p.Glu197Ter) c.742G>T (p.Glu248Ter) c.922G>T (p.Glu308Ter) | |
| 7 | g.117536640_117536642del | CA327665 | CFTR | c.836_838del (p.Glu279del) c.*733_*735del (n.*733_*735del) c.*660_*662del (n.*660_*662del) c.593_595del (p.Glu198del) c.746_748del (p.Glu249del) c.926_928del (p.Glu309del) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117536637A>C | CA368977512 | CFTR | c.833A>C (p.Glu278Ala) c.*730A>C (n.*730A>C) c.*657A>C (n.*657A>C) c.590A>C (p.Glu197Ala) c.743A>C (p.Glu248Ala) c.923A>C (p.Glu308Ala) | |
| 7 | g.117536637A>G | CA368977510 | CFTR | c.833A>G (p.Glu278Gly) c.*730A>G (n.*730A>G) c.*657A>G (n.*657A>G) c.590A>G (p.Glu197Gly) c.743A>G (p.Glu248Gly) c.923A>G (p.Glu308Gly) | |
| 7 | g.117536637A>T | CA368977511 | CFTR | c.833A>T (p.Glu278Val) c.*730A>T (n.*730A>T) c.*657A>T (n.*657A>T) c.590A>T (p.Glu197Val) c.743A>T (p.Glu248Val) c.923A>T (p.Glu308Val) | |
| 7 | g.117536638A>C | CA368977513 | CFTR | c.834A>C (p.Glu278Asp) c.*731A>C (n.*731A>C) c.*658A>C (n.*658A>C) c.591A>C (p.Glu197Asp) c.744A>C (p.Glu248Asp) c.924A>C (p.Glu308Asp) | |
| 7 | g.117536638A>G | CA457227413 | CFTR | c.834A>G (p.Glu278=) c.*731A>G (n.*731A>G) c.*658A>G (n.*658A>G) c.591A>G (p.Glu197=) c.744A>G (p.Glu248=) c.924A>G (p.Glu308=) | |
| 7 | g.117536638A>T | CA368977514 | CFTR | c.834A>T (p.Glu278Asp) c.*731A>T (n.*731A>T) c.*658A>T (n.*658A>T) c.591A>T (p.Glu197Asp) c.744A>T (p.Glu248Asp) c.924A>T (p.Glu308Asp) | gnomAD v4 |
| 7 | g.117536639G>A | CA368977515 | CFTR | c.835G>A (p.Glu279Lys) c.*732G>A (n.*732G>A) c.*659G>A (n.*659G>A) c.592G>A (p.Glu198Lys) c.745G>A (p.Glu249Lys) c.925G>A (p.Glu309Lys) | COSMIC |
| 7 | g.117536639G>C | CA368977516 | CFTR | c.835G>C (p.Glu279Gln) c.*732G>C (n.*732G>C) c.*659G>C (n.*659G>C) c.592G>C (p.Glu198Gln) c.745G>C (p.Glu249Gln) c.925G>C (p.Glu309Gln) | |
| 7 | g.117536639G= | CA1737327313 | CFTR | c.835G= (p.Glu279=) c.*732G= (n.*732G=) c.*659G= (n.*659G=) c.592G= (p.Glu198=) c.745G= (p.Glu249=) c.925G= (p.Glu309=) | |
| 7 | g.117536639G>T | CA368977517 | CFTR | c.835G>T (p.Glu279Ter) c.*732G>T (n.*732G>T) c.*659G>T (n.*659G>T) c.592G>T (p.Glu198Ter) c.745G>T (p.Glu249Ter) c.925G>T (p.Glu309Ter) | ClinVar dbSNP gnomAD v2 |
| 7 | g.117536640A>C | CA368977520 | CFTR | c.836A>C (p.Glu279Ala) c.*733A>C (n.*733A>C) c.*660A>C (n.*660A>C) c.593A>C (p.Glu198Ala) c.746A>C (p.Glu249Ala) c.926A>C (p.Glu309Ala) | |
| 7 | g.117536640A>G | CA368977518 | CFTR | c.836A>G (p.Glu279Gly) c.*733A>G (n.*733A>G) c.*660A>G (n.*660A>G) c.593A>G (p.Glu198Gly) c.746A>G (p.Glu249Gly) c.926A>G (p.Glu309Gly) | |
| 7 | g.117536640A>T | CA368977519 | CFTR | c.836A>T (p.Glu279Val) c.*733A>T (n.*733A>T) c.*660A>T (n.*660A>T) c.593A>T (p.Glu198Val) c.746A>T (p.Glu249Val) c.926A>T (p.Glu309Val) | |
| 7 | g.117536641A= | CA1737327323 | CFTR | c.837A= (p.Glu279=) c.*734A= (n.*734A=) c.*661A= (n.*661A=) c.594A= (p.Glu198=) c.747A= (p.Glu249=) c.927A= (p.Glu309=) | |
| 7 | g.117536641A>C | CA368977521 | CFTR | c.837A>C (p.Glu279Asp) c.*734A>C (n.*734A>C) c.*661A>C (n.*661A>C) c.594A>C (p.Glu198Asp) c.747A>C (p.Glu249Asp) c.927A>C (p.Glu309Asp) | |
| 7 | g.117536641A>G | CA457227417 | CFTR | c.837A>G (p.Glu279=) c.*734A>G (n.*734A>G) c.*661A>G (n.*661A>G) c.594A>G (p.Glu198=) c.747A>G (p.Glu249=) c.927A>G (p.Glu309=) | |
| 7 | g.117536641A>T | CA4450839 | CFTR | c.837A>T (p.Glu279Asp) c.*734A>T (n.*734A>T) c.*661A>T (n.*661A>T) c.594A>T (p.Glu198Asp) c.747A>T (p.Glu249Asp) c.927A>T (p.Glu309Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |