| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117540097_117540344delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC | CA1737331753 | CFTR | c.870-3_1114delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.*767-3_*1011delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.*694-3_*938delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.627-3_871delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.780-3_1024delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.960-3_1204delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC | |
| 7 | g.117540100_117540346del | CA913189992 | CFTR | c.870_1116del c.*767_*1013del c.*694_*940del c.627_873del c.780_1026del c.960_1206del | ClinVar dbSNP |
| 7 | g.117540218G>A | CA368978655 | CFTR | c.988G>A (p.Gly330Arg) c.*885G>A (n.*885G>A) c.*812G>A (n.*812G>A) c.745G>A (p.Gly249Arg) c.898G>A (p.Gly300Arg) c.1078G>A (p.Gly360Arg) | gnomAD v4 |
| 7 | g.117540218G>C | CA368978652 | CFTR | c.988G>C (p.Gly330Arg) c.*885G>C (n.*885G>C) c.*812G>C (n.*812G>C) c.745G>C (p.Gly249Arg) c.898G>C (p.Gly300Arg) c.1078G>C (p.Gly360Arg) | |
| 7 | g.117540218G= | CA1737332081 | CFTR | c.988G= (p.Gly330=) c.*885G= (n.*885G=) c.*812G= (n.*812G=) c.745G= (p.Gly249=) c.898G= (p.Gly300=) c.1078G= (p.Gly360=) | |
| 7 | g.117540218G>T | CA328133 | CFTR | c.988G>T (p.Gly330Ter) c.*885G>T (n.*885G>T) c.*812G>T (n.*812G>T) c.745G>T (p.Gly249Ter) c.898G>T (p.Gly300Ter) c.1078G>T (p.Gly360Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117540219dup | CA2695199633 | CFTR | c.989dup (p.Ile331AsnfsTer?) c.*886dup (n.*886dup) c.*813dup (n.*813dup) c.746dup (p.Ile250AsnfsTer?) c.899dup (p.Ile301AsnfsTer?) c.1079dup (p.Ile361AsnfsTer?) | ClinVar |
| 7 | g.117540219G>A | CA368978658 | CFTR | c.989G>A (p.Gly330Glu) c.*886G>A (n.*886G>A) c.*813G>A (n.*813G>A) c.746G>A (p.Gly249Glu) c.899G>A (p.Gly300Glu) c.1079G>A (p.Gly360Glu) | COSMIC |
| 7 | g.117540219G>C | CA368978660 | CFTR | c.989G>C (p.Gly330Ala) c.*886G>C (n.*886G>C) c.*813G>C (n.*813G>C) c.746G>C (p.Gly249Ala) c.899G>C (p.Gly300Ala) c.1079G>C (p.Gly360Ala) | |
| 7 | g.117540219G>T | CA368978662 | CFTR | c.989G>T (p.Gly330Val) c.*886G>T (n.*886G>T) c.*813G>T (n.*813G>T) c.746G>T (p.Gly249Val) c.899G>T (p.Gly300Val) c.1079G>T (p.Gly360Val) | gnomAD v4 |
| 7 | g.117540220A>C | CA457448735 | CFTR | c.990A>C (p.Gly330=) c.*887A>C (n.*887A>C) c.*814A>C (n.*814A>C) c.747A>C (p.Gly249=) c.900A>C (p.Gly300=) c.1080A>C (p.Gly360=) | |
| 7 | g.117540220A>G | CA457448736 | CFTR | c.990A>G (p.Gly330=) c.*887A>G (n.*887A>G) c.*814A>G (n.*814A>G) c.747A>G (p.Gly249=) c.900A>G (p.Gly300=) c.1080A>G (p.Gly360=) | |
| 7 | g.117540220A>T | CA457448737 | CFTR | c.990A>T (p.Gly330=) c.*887A>T (n.*887A>T) c.*814A>T (n.*814A>T) c.747A>T (p.Gly249=) c.900A>T (p.Gly300=) c.1080A>T (p.Gly360=) | |
| 7 | g.117540221A= | CA1737332084 | CFTR | c.991A= (p.Ile331=) c.*888A= (n.*888A=) c.*815A= (n.*815A=) c.748A= (p.Ile250=) c.901A= (p.Ile301=) c.1081A= (p.Ile361=) | |
| 7 | g.117540221A>C | CA368978665 | CFTR | c.991A>C (p.Ile331Leu) c.*888A>C (n.*888A>C) c.*815A>C (n.*815A>C) c.748A>C (p.Ile250Leu) c.901A>C (p.Ile301Leu) c.1081A>C (p.Ile361Leu) | |
| 7 | g.117540221A>G | CA368978667 | CFTR | c.991A>G (p.Ile331Val) c.*888A>G (n.*888A>G) c.*815A>G (n.*815A>G) c.748A>G (p.Ile250Val) c.901A>G (p.Ile301Val) c.1081A>G (p.Ile361Val) | |
| 7 | g.117540221A>T | CA368978669 | CFTR | c.991A>T (p.Ile331Phe) c.*888A>T (n.*888A>T) c.*815A>T (n.*815A>T) c.748A>T (p.Ile250Phe) c.901A>T (p.Ile301Phe) c.1081A>T (p.Ile361Phe) | ClinVar dbSNP |
| 7 | g.117540222T>A | CA327709 | CFTR | c.992T>A (p.Ile331Asn) c.*889T>A (n.*889T>A) c.*816T>A (n.*816T>A) c.749T>A (p.Ile250Asn) c.902T>A (p.Ile301Asn) c.1082T>A (p.Ile361Asn) | ClinVar dbSNP ExAC gnomAD v2 |
| 7 | g.117540222T>C | CA368978676 | CFTR | c.992T>C (p.Ile331Thr) c.*889T>C (n.*889T>C) c.*816T>C (n.*816T>C) c.749T>C (p.Ile250Thr) c.902T>C (p.Ile301Thr) c.1082T>C (p.Ile361Thr) | gnomAD v4 COSMIC |
| 7 | g.117540222T>G | CA368978673 | CFTR | c.992T>G (p.Ile331Ser) c.*889T>G (n.*889T>G) c.*816T>G (n.*816T>G) c.749T>G (p.Ile250Ser) c.902T>G (p.Ile301Ser) c.1082T>G (p.Ile361Ser) | |
| 7 | g.117540222T= | CA1737332087 | CFTR | c.992T= (p.Ile331=) c.*889T= (n.*889T=) c.*816T= (n.*816T=) c.749T= (p.Ile250=) c.902T= (p.Ile301=) c.1082T= (p.Ile361=) | |
| 7 | g.117540223C>A | CA457448738 | CFTR | c.993C>A (p.Ile331=) c.*890C>A (n.*890C>A) c.*817C>A (n.*817C>A) c.750C>A (p.Ile250=) c.903C>A (p.Ile301=) c.1083C>A (p.Ile361=) | |
| 7 | g.117540223C>G | CA368978678 | CFTR | c.993C>G (p.Ile331Met) c.*890C>G (n.*890C>G) c.*817C>G (n.*817C>G) c.750C>G (p.Ile250Met) c.903C>G (p.Ile301Met) c.1083C>G (p.Ile361Met) | |
| 7 | g.117540223C>T | CA457448739 | CFTR | c.993C>T (p.Ile331=) c.*890C>T (n.*890C>T) c.*817C>T (n.*817C>T) c.750C>T (p.Ile250=) c.903C>T (p.Ile301=) c.1083C>T (p.Ile361=) | ClinVar dbSNP |
| 7 | g.117540224A>C | CA368978679 | CFTR | c.994A>C (p.Ile332Leu) c.*891A>C (n.*891A>C) c.*818A>C (n.*818A>C) c.751A>C (p.Ile251Leu) c.904A>C (p.Ile302Leu) c.1084A>C (p.Ile362Leu) | |
| 7 | g.117540224A>G | CA368978682 | CFTR | c.994A>G (p.Ile332Val) c.*891A>G (n.*891A>G) c.*818A>G (n.*818A>G) c.751A>G (p.Ile251Val) c.904A>G (p.Ile302Val) c.1084A>G (p.Ile362Val) | |
| 7 | g.117540224A>T | CA368978685 | CFTR | c.994A>T (p.Ile332Phe) c.*891A>T (n.*891A>T) c.*818A>T (n.*818A>T) c.751A>T (p.Ile251Phe) c.904A>T (p.Ile302Phe) c.1084A>T (p.Ile362Phe) | |
| 7 | g.117540225T>A | CA368978687 | CFTR | c.995T>A (p.Ile332Asn) c.*892T>A (n.*892T>A) c.*819T>A (n.*819T>A) c.752T>A (p.Ile251Asn) c.905T>A (p.Ile302Asn) c.1085T>A (p.Ile362Asn) | |
| 7 | g.117540225T>C | CA368978688 | CFTR | c.995T>C (p.Ile332Thr) c.*892T>C (n.*892T>C) c.*819T>C (n.*819T>C) c.752T>C (p.Ile251Thr) c.905T>C (p.Ile302Thr) c.1085T>C (p.Ile362Thr) | |
| 7 | g.117540225T>G | CA368978691 | CFTR | c.995T>G (p.Ile332Ser) c.*892T>G (n.*892T>G) c.*819T>G (n.*819T>G) c.752T>G (p.Ile251Ser) c.905T>G (p.Ile302Ser) c.1085T>G (p.Ile362Ser) | |
| 7 | g.117540226C>A | CA457448740 | CFTR | c.996C>A (p.Ile332=) c.*893C>A (n.*893C>A) c.*820C>A (n.*820C>A) c.753C>A (p.Ile251=) c.906C>A (p.Ile302=) c.1086C>A (p.Ile362=) | ClinVar |
| 7 | g.117540226C>G | CA368978693 | CFTR | c.996C>G (p.Ile332Met) c.*893C>G (n.*893C>G) c.*820C>G (n.*820C>G) c.753C>G (p.Ile251Met) c.906C>G (p.Ile302Met) c.1086C>G (p.Ile362Met) | |
| 7 | g.117540226C>T | CA457448741 | CFTR | c.996C>T (p.Ile332=) c.*893C>T (n.*893C>T) c.*820C>T (n.*820C>T) c.753C>T (p.Ile251=) c.906C>T (p.Ile302=) c.1086C>T (p.Ile362=) | ClinVar COSMIC |
| 7 | g.117540227C>A | CA368978696 | CFTR | c.997C>A (p.Leu333Ile) c.*894C>A (n.*894C>A) c.*821C>A (n.*821C>A) c.754C>A (p.Leu252Ile) c.907C>A (p.Leu303Ile) c.1087C>A (p.Leu363Ile) | |
| 7 | g.117540227C= | CA1737332092 | CFTR | c.997C= (p.Leu333=) c.*894C= (n.*894C=) c.*821C= (n.*821C=) c.754C= (p.Leu252=) c.907C= (p.Leu303=) c.1087C= (p.Leu363=) | |
| 7 | g.117540227C>G | CA368978724 | CFTR | c.997C>G (p.Leu333Val) c.*894C>G (n.*894C>G) c.*821C>G (n.*821C>G) c.754C>G (p.Leu252Val) c.907C>G (p.Leu303Val) c.1087C>G (p.Leu363Val) | |
| 7 | g.117540227C>T | CA260262 | CFTR | c.997C>T (p.Leu333Phe) c.*894C>T (n.*894C>T) c.*821C>T (n.*821C>T) c.754C>T (p.Leu252Phe) c.907C>T (p.Leu303Phe) c.1087C>T (p.Leu363Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540228T>A | CA368978727 | CFTR | c.998T>A (p.Leu333His) c.*895T>A (n.*895T>A) c.*822T>A (n.*822T>A) c.755T>A (p.Leu252His) c.908T>A (p.Leu303His) c.1088T>A (p.Leu363His) | gnomAD v4 |
| 7 | g.117540228T>C | CA368978731 | CFTR | c.998T>C (p.Leu333Pro) c.*895T>C (n.*895T>C) c.*822T>C (n.*822T>C) c.755T>C (p.Leu252Pro) c.908T>C (p.Leu303Pro) c.1088T>C (p.Leu363Pro) | gnomAD v4 |
| 7 | g.117540228T>G | CA368978730 | CFTR | c.998T>G (p.Leu333Arg) c.*895T>G (n.*895T>G) c.*822T>G (n.*822T>G) c.755T>G (p.Leu252Arg) c.908T>G (p.Leu303Arg) c.1088T>G (p.Leu363Arg) | |
| 7 | g.117540229C>A | CA457448742 | CFTR | c.999C>A (p.Leu333=) c.*896C>A (n.*896C>A) c.*823C>A (n.*823C>A) c.756C>A (p.Leu252=) c.909C>A (p.Leu303=) c.1089C>A (p.Leu363=) | |
| 7 | g.117540229C>G | CA457448743 | CFTR | c.999C>G (p.Leu333=) c.*896C>G (n.*896C>G) c.*823C>G (n.*823C>G) c.756C>G (p.Leu252=) c.909C>G (p.Leu303=) c.1089C>G (p.Leu363=) | |
| 7 | g.117540229C>T | CA457448744 | CFTR | c.999C>T (p.Leu333=) c.*896C>T (n.*896C>T) c.*823C>T (n.*823C>T) c.756C>T (p.Leu252=) c.909C>T (p.Leu303=) c.1089C>T (p.Leu363=) | COSMIC |
| 7 | g.117540230C>A | CA457448745 | CFTR | c.1000C>A (p.Arg334=) c.*897C>A (n.*897C>A) c.*824C>A (n.*824C>A) c.757C>A (p.Arg253=) c.910C>A (p.Arg304=) c.1090C>A (p.Arg364=) | |
| 7 | g.117540230C= | CA1737332096 | CFTR | c.1000C= (p.Arg334=) c.*897C= (n.*897C=) c.*824C= (n.*824C=) c.757C= (p.Arg253=) c.910C= (p.Arg304=) c.1090C= (p.Arg364=) | |
| 7 | g.117540230C>G | CA368978733 | CFTR | c.1000C>G (p.Arg334Gly) c.*897C>G (n.*897C>G) c.*824C>G (n.*824C>G) c.757C>G (p.Arg253Gly) c.910C>G (p.Arg304Gly) c.1090C>G (p.Arg364Gly) | |
| 7 | g.117540230C>T | CA340644 | CFTR | c.1000C>T (p.Arg334Trp) c.*897C>T (n.*897C>T) c.*824C>T (n.*824C>T) c.757C>T (p.Arg253Trp) c.910C>T (p.Arg304Trp) c.1090C>T (p.Arg364Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117540231G>A | CA326358 | CFTR | c.1001G>A (p.Arg334Gln) c.*898G>A (n.*898G>A) c.*825G>A (n.*825G>A) c.758G>A (p.Arg253Gln) c.911G>A (p.Arg304Gln) c.1091G>A (p.Arg364Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117540231G>C | CA368978737 | CFTR | c.1001G>C (p.Arg334Pro) c.*898G>C (n.*898G>C) c.*825G>C (n.*825G>C) c.758G>C (p.Arg253Pro) c.911G>C (p.Arg304Pro) c.1091G>C (p.Arg364Pro) | |
| 7 | g.117540231G= | CA1737332108 | CFTR | c.1001G= (p.Arg334=) c.*898G= (n.*898G=) c.*825G= (n.*825G=) c.758G= (p.Arg253=) c.911G= (p.Arg304=) c.1091G= (p.Arg364=) |