Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117642414_117643194delCA327259CFTRc.3718-24_3873+601del
c.3808-24_3963+601del
c.3475-24_3630+601del
n.3628-24_3783+601del
ClinVar dbSNP
7g.117642483T>ACA368974648CFTRc.3763T>A (p.Ser1255Thr)
c.3853T>A (p.Ser1285Thr)
c.3520T>A (p.Ser1174Thr)
n.3673T>A (p.Ser1225Thr)
gnomAD
7g.117642483T>CCA325580CFTRc.3763T>C (p.Ser1255Pro)
c.3853T>C (p.Ser1285Pro)
c.3520T>C (p.Ser1174Pro)
n.3673T>C (p.Ser1225Pro)
ClinVar dbSNP
7g.117642483T>GCA368974659CFTRc.3763T>G (p.Ser1255Ala)
c.3853T>G (p.Ser1285Ala)
c.3520T>G (p.Ser1174Ala)
n.3673T>G (p.Ser1225Ala)
7g.117642484C>ACA325525CFTRc.3764C>A (p.Ser1255Ter)
c.3854C>A (p.Ser1285Ter)
c.3521C>A (p.Ser1174Ter)
n.3674C>A (p.Ser1225Ter)
ClinVar dbSNP gnomAD
7g.117642484C>GCA368974665CFTRc.3764C>G (p.Ser1255Ter)
c.3854C>G (p.Ser1285Ter)
c.3521C>G (p.Ser1174Ter)
n.3674C>G (p.Ser1225Ter)
COSMIC
7g.117642484C>TCA327282CFTRc.3764C>T (p.Ser1255Leu)
c.3854C>T (p.Ser1285Leu)
c.3521C>T (p.Ser1174Leu)
n.3674C>T (p.Ser1225Leu)
ClinVar dbSNP
7g.117642485A>CCA457228082CFTRc.3765A>C (p.Ser1255=)
c.3855A>C (p.Ser1285=)
c.3522A>C (p.Ser1174=)
n.3675A>C (p.Ser1225=)
7g.117642485A>GCA164947550CFTRc.3765A>G (p.Ser1255=)
c.3855A>G (p.Ser1285=)
c.3522A>G (p.Ser1174=)
n.3675A>G (p.Ser1225=)
dbSNP
7g.117642485A>TCA457228083CFTRc.3765A>T (p.Ser1255=)
c.3855A>T (p.Ser1285=)
c.3522A>T (p.Ser1174=)
n.3675A>T (p.Ser1225=)
7g.117642486G>ACA368974670CFTRc.3766G>A (p.Ala1256Thr)
c.3856G>A (p.Ala1286Thr)
c.3523G>A (p.Ala1175Thr)
n.3676G>A (p.Ala1226Thr)
7g.117642486G>CCA368974676CFTRc.3766G>C (p.Ala1256Pro)
c.3856G>C (p.Ala1286Pro)
c.3523G>C (p.Ala1175Pro)
n.3676G>C (p.Ala1226Pro)
7g.117642486G>TCA368974678CFTRc.3766G>T (p.Ala1256Ser)
c.3856G>T (p.Ala1286Ser)
c.3523G>T (p.Ala1175Ser)
n.3676G>T (p.Ala1226Ser)
7g.117642487C>ACA368974688CFTRc.3767C>A (p.Ala1256Asp)
c.3857C>A (p.Ala1286Asp)
c.3524C>A (p.Ala1175Asp)
n.3677C>A (p.Ala1226Asp)
7g.117642487C>GCA368974691CFTRc.3767C>G (p.Ala1256Gly)
c.3857C>G (p.Ala1286Gly)
c.3524C>G (p.Ala1175Gly)
n.3677C>G (p.Ala1226Gly)
7g.117642487C>TCA4451543CFTRc.3767C>T (p.Ala1256Val)
c.3857C>T (p.Ala1286Val)
c.3524C>T (p.Ala1175Val)
n.3677C>T (p.Ala1226Val)
ClinVar dbSNP ExAC gnomAD
7g.117642487dupCA325569CFTRc.3767dup (p.Leu1258PhefsTer7)
c.3857dup (p.Leu1288PhefsTer7)
c.3524dup (p.Leu1177PhefsTer7)
n.3677dup (p.Leu1228PhefsTer7)
ClinVar dbSNP dbSNP
7g.117642488T>ACA457228086CFTRc.3768T>A (p.Ala1256=)
c.3858T>A (p.Ala1286=)
c.3525T>A (p.Ala1175=)
n.3678T>A (p.Ala1226=)
7g.117642488T>CCA457228085CFTRc.3768T>C (p.Ala1256=)
c.3858T>C (p.Ala1286=)
c.3525T>C (p.Ala1175=)
n.3678T>C (p.Ala1226=)
7g.117642488T>GCA457228084CFTRc.3768T>G (p.Ala1256=)
c.3858T>G (p.Ala1286=)
c.3525T>G (p.Ala1175=)
n.3678T>G (p.Ala1226=)
7g.117642493dupCA327288CFTRc.3773dup (p.Leu1258PhefsTer7)
c.3863dup (p.Leu1288PhefsTer7)
c.3530dup (p.Leu1177PhefsTer7)
n.3683dup (p.Leu1228PhefsTer7)
ClinVar dbSNP dbSNP dbSNP gnomAD COSMIC
7g.117642489T>ACA368974704CFTRc.3769T>A (p.Phe1257Ile)
c.3859T>A (p.Phe1287Ile)
c.3526T>A (p.Phe1176Ile)
n.3679T>A (p.Phe1227Ile)
7g.117642489T>CCA164947572CFTRc.3769T>C (p.Phe1257Leu)
c.3859T>C (p.Phe1287Leu)
c.3526T>C (p.Phe1176Leu)
n.3679T>C (p.Phe1227Leu)
dbSNP
7g.117642489T>GCA368974705CFTRc.3769T>G (p.Phe1257Val)
c.3859T>G (p.Phe1287Val)
c.3526T>G (p.Phe1176Val)
n.3679T>G (p.Phe1227Val)
7g.117642490T>ACA368974709CFTRc.3770T>A (p.Phe1257Tyr)
c.3860T>A (p.Phe1287Tyr)
c.3527T>A (p.Phe1176Tyr)
n.3680T>A (p.Phe1227Tyr)
7g.117642490T>CCA368974711CFTRc.3770T>C (p.Phe1257Ser)
c.3860T>C (p.Phe1287Ser)
c.3527T>C (p.Phe1176Ser)
n.3680T>C (p.Phe1227Ser)
7g.117642490T>GCA368974706CFTRc.3770T>G (p.Phe1257Cys)
c.3860T>G (p.Phe1287Cys)
c.3527T>G (p.Phe1176Cys)
n.3680T>G (p.Phe1227Cys)
7g.117642491T>ACA368974714CFTRc.3771T>A (p.Phe1257Leu)
c.3861T>A (p.Phe1287Leu)
c.3528T>A (p.Phe1176Leu)
n.3681T>A (p.Phe1227Leu)
7g.117642491T>CCA457228093CFTRc.3771T>C (p.Phe1257=)
c.3861T>C (p.Phe1287=)
c.3528T>C (p.Phe1176=)
n.3681T>C (p.Phe1227=)
7g.117642491T>GCA327286CFTRc.3771T>G (p.Phe1257Leu)
c.3861T>G (p.Phe1287Leu)
c.3528T>G (p.Phe1176Leu)
n.3681T>G (p.Phe1227Leu)
ClinVar dbSNP ExAC gnomAD
7g.117642492T>ACA368974722CFTRc.3772T>A (p.Leu1258Met)
c.3862T>A (p.Leu1288Met)
c.3529T>A (p.Leu1177Met)
n.3682T>A (p.Leu1228Met)
7g.117642492T>CCA164947580CFTRc.3772T>C (p.Leu1258=)
c.3862T>C (p.Leu1288=)
c.3529T>C (p.Leu1177=)
n.3682T>C (p.Leu1228=)
ClinVar dbSNP
7g.117642492T>GCA368974728CFTRc.3772T>G (p.Leu1258Val)
c.3862T>G (p.Leu1288Val)
c.3529T>G (p.Leu1177Val)
n.3682T>G (p.Leu1228Val)
7g.117642493T>ACA368974736CFTRc.3773T>A (p.Leu1258Ter)
c.3863T>A (p.Leu1288Ter)
c.3530T>A (p.Leu1177Ter)
n.3683T>A (p.Leu1228Ter)
7g.117642493T>CCA368974734CFTRc.3773T>C (p.Leu1258Ser)
c.3863T>C (p.Leu1288Ser)
c.3530T>C (p.Leu1177Ser)
n.3683T>C (p.Leu1228Ser)
7g.117642493T>GCA368974731CFTRc.3773T>G (p.Leu1258Trp)
c.3863T>G (p.Leu1288Trp)
c.3530T>G (p.Leu1177Trp)
n.3683T>G (p.Leu1228Trp)
7g.117642493_117642494insACA368974739CFTRc.3773_3774insA (p.Arg1259GlufsTer6)
c.3863_3864insA (p.Arg1289GlufsTer6)
c.3530_3531insA (p.Arg1178GlufsTer6)
n.3683_3684insA (p.Arg1229GlufsTer6)
7g.117642494G>ACA457228109CFTRc.3774G>A (p.Leu1258=)
c.3864G>A (p.Leu1288=)
c.3531G>A (p.Leu1177=)
n.3684G>A (p.Leu1228=)
7g.117642494G>CCA368974743CFTRc.3774G>C (p.Leu1258Phe)
c.3864G>C (p.Leu1288Phe)
c.3531G>C (p.Leu1177Phe)
n.3684G>C (p.Leu1228Phe)
7g.117642494G>TCA368974746CFTRc.3774G>T (p.Leu1258Phe)
c.3864G>T (p.Leu1288Phe)
c.3531G>T (p.Leu1177Phe)
n.3684G>T (p.Leu1228Phe)
7g.117642494dupCA327289CFTRc.3774dup (p.Arg1259GlufsTer6)
c.3864dup (p.Arg1289GlufsTer6)
c.3531dup (p.Arg1178GlufsTer6)
n.3684dup (p.Arg1229GlufsTer6)
dbSNP
7g.117642495A>CCA457228113CFTRc.3775A>C (p.Arg1259=)
c.3865A>C (p.Arg1289=)
c.3532A>C (p.Arg1178=)
n.3685A>C (p.Arg1229=)
7g.117642495A>GCA368974749CFTRc.3775A>G (p.Arg1259Gly)
c.3865A>G (p.Arg1289Gly)
c.3532A>G (p.Arg1178Gly)
n.3685A>G (p.Arg1229Gly)
7g.117642495A>TCA368974762CFTRc.3775A>T (p.Arg1259Ter)
c.3865A>T (p.Arg1289Ter)
c.3532A>T (p.Arg1178Ter)
n.3685A>T (p.Arg1229Ter)
7g.117642496G>ACA368974767CFTRc.3776G>A (p.Arg1259Lys)
c.3866G>A (p.Arg1289Lys)
c.3533G>A (p.Arg1178Lys)
n.3686G>A (p.Arg1229Lys)
7g.117642496G>CCA368974774CFTRc.3776G>C (p.Arg1259Thr)
c.3866G>C (p.Arg1289Thr)
c.3533G>C (p.Arg1178Thr)
n.3686G>C (p.Arg1229Thr)
gnomAD
7g.117642496G>TCA368974771CFTRc.3776G>T (p.Arg1259Ile)
c.3866G>T (p.Arg1289Ile)
c.3533G>T (p.Arg1178Ile)
n.3686G>T (p.Arg1229Ile)
7g.117642497A>CCA368974776CFTRc.3777A>C (p.Arg1259Ser)
c.3867A>C (p.Arg1289Ser)
c.3534A>C (p.Arg1178Ser)
n.3687A>C (p.Arg1229Ser)
7g.117642497A>GCA457228121CFTRc.3777A>G (p.Arg1259=)
c.3867A>G (p.Arg1289=)
c.3534A>G (p.Arg1178=)
n.3687A>G (p.Arg1229=)
7g.117642497A>TCA368974782CFTRc.3777A>T (p.Arg1259Ser)
c.3867A>T (p.Arg1289Ser)
c.3534A>T (p.Arg1178Ser)
n.3687A>T (p.Arg1229Ser)

Number of alleles fetched