Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117642383T>GCA832113708CFTRc.3718-55T>G (p.=)
c.3808-55T>G (p.=)
c.3475-55T>G (p.=)
n.3628-55T>G (p.=)
7g.117642388G>CCA4451529CFTRc.3718-50G>C (p.=)
c.3808-50G>C (p.=)
c.3475-50G>C (p.=)
n.3628-50G>C (p.=)
dbSNP ExAC gnomAD
7g.117642396C>ACA164947386CFTRc.3718-42C>A (p.=)
c.3808-42C>A (p.=)
c.3475-42C>A (p.=)
n.3628-42C>A (p.=)
dbSNP
7g.117642396C>TCA832113711CFTRc.3718-42C>T (p.=)
c.3808-42C>T (p.=)
c.3475-42C>T (p.=)
n.3628-42C>T (p.=)
7g.117642397C>GCA4451530CFTRc.3718-41C>G (p.=)
c.3808-41C>G (p.=)
c.3475-41C>G (p.=)
n.3628-41C>G (p.=)
dbSNP ExAC gnomAD
7g.117642398T>CCA4451531CFTRc.3718-40T>C (p.=)
c.3808-40T>C (p.=)
c.3475-40T>C (p.=)
n.3628-40T>C (p.=)
dbSNP ExAC gnomAD
7g.117642399A>GCA4451532CFTRc.3718-39A>G (p.=)
c.3808-39A>G (p.=)
c.3475-39A>G (p.=)
n.3628-39A>G (p.=)
dbSNP ExAC gnomAD
7g.117642400T>ACA4451533CFTRc.3718-38T>A (p.=)
c.3808-38T>A (p.=)
c.3475-38T>A (p.=)
n.3628-38T>A (p.=)
dbSNP ExAC gnomAD
7g.117642401A>GCA4451534CFTRc.3718-37A>G (p.=)
c.3808-37A>G (p.=)
c.3475-37A>G (p.=)
n.3628-37A>G (p.=)
dbSNP ExAC gnomAD
7g.117642403G>ACA1106311179CFTRc.3718-35G>A (p.=)
c.3808-35G>A (p.=)
c.3475-35G>A (p.=)
n.3628-35G>A (p.=)
7g.117642403G>TCA651892691CFTRc.3718-35G>T (p.=)
c.3808-35G>T (p.=)
c.3475-35G>T (p.=)
n.3628-35G>T (p.=)
COSMIC
7g.117642409G>CCA164947414CFTRc.3718-29G>C (p.=)
c.3808-29G>C (p.=)
c.3475-29G>C (p.=)
n.3628-29G>C (p.=)
dbSNP
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.117642414G>ACA4451535CFTRc.3718-24G>A (p.=)
c.3808-24G>A (p.=)
c.3475-24G>A (p.=)
n.3628-24G>A (p.=)
ClinVar dbSNP ExAC gnomAD
7g.117642420A>GCA577223893CFTRc.3718-18A>G (p.=)
c.3808-18A>G (p.=)
c.3475-18A>G (p.=)
n.3628-18A>G (p.=)
gnomAD
7g.117642422C>TCA577223894CFTRc.3718-16C>T (p.=)
c.3808-16C>T (p.=)
c.3475-16C>T (p.=)
n.3628-16C>T (p.=)
gnomAD
7g.117642423A>CCA4451536CFTRc.3718-15A>C (p.=)
c.3808-15A>C (p.=)
c.3475-15A>C (p.=)
n.3628-15A>C (p.=)
dbSNP ExAC gnomAD
7g.117642424C>TCA4451537CFTRc.3718-14C>T (p.=)
c.3808-14C>T (p.=)
c.3475-14C>T (p.=)
n.3628-14C>T (p.=)
dbSNP ExAC gnomAD
7g.117642425T>GCA577223895CFTRc.3718-13T>G (p.=)
c.3808-13T>G (p.=)
c.3475-13T>G (p.=)
n.3628-13T>G (p.=)
gnomAD
7g.117642429A>TCA4451538CFTRc.3718-9A>T (p.=)
c.3808-9A>T (p.=)
c.3475-9A>T (p.=)
n.3628-9A>T (p.=)
dbSNP ExAC gnomAD
7g.117642435T>CCA4451539CFTRc.3718-3T>C (p.=)
c.3808-3T>C (p.=)
c.3475-3T>C (p.=)
n.3628-3T>C (p.=)
dbSNP ExAC gnomAD
7g.117642435T>GCA327260CFTRc.3718-3T>G (p.=)
c.3808-3T>G (p.=)
c.3475-3T>G (p.=)
n.3628-3T>G (p.=)
ClinVar dbSNP ExAC gnomAD
7g.117642436A>CCA368974388CFTRc.3718-2A>C (p.=)
c.3808-2A>C (p.=)
c.3475-2A>C (p.=)
n.3628-2A>C (p.=)
7g.117642436A>GCA368974390CFTRc.3718-2A>G (p.=)
c.3808-2A>G (p.=)
c.3475-2A>G (p.=)
n.3628-2A>G (p.=)
7g.117642436A>TCA368974392CFTRc.3718-2A>T (p.=)
c.3808-2A>T (p.=)
c.3475-2A>T (p.=)
n.3628-2A>T (p.=)
7g.117642437G>ACA325568CFTRc.3718-1G>A (p.=)
c.3808-1G>A (p.=)
c.3475-1G>A (p.=)
n.3628-1G>A (p.=)
ClinVar dbSNP COSMIC
7g.117642437G>CCA368974395CFTRc.3718-1G>C (p.=)
c.3808-1G>C (p.=)
c.3475-1G>C (p.=)
n.3628-1G>C (p.=)
7g.117642437G>TCA368974396CFTRc.3718-1G>T (p.=)
c.3808-1G>T (p.=)
c.3475-1G>T (p.=)
n.3628-1G>T (p.=)
7g.117642438G>ACA368974398CFTRc.3718G>A (p.Val1240Met)
c.3808G>A (p.Val1270Met)
c.3475G>A (p.Val1159Met)
n.3628G>A (p.Val1210Met)
7g.117642438G>CCA368974399CFTRc.3718G>C (p.Val1240Leu)
c.3808G>C (p.Val1270Leu)
c.3475G>C (p.Val1159Leu)
n.3628G>C (p.Val1210Leu)
7g.117642438G>TCA368974400CFTRc.3718G>T (p.Val1240Leu)
c.3808G>T (p.Val1270Leu)
c.3475G>T (p.Val1159Leu)
n.3628G>T (p.Val1210Leu)
7g.117642439T>ACA368974403CFTRc.3719T>A (p.Val1240Glu)
c.3809T>A (p.Val1270Glu)
c.3476T>A (p.Val1159Glu)
n.3629T>A (p.Val1210Glu)
7g.117642439T>CCA368974405CFTRc.3719T>C (p.Val1240Ala)
c.3809T>C (p.Val1270Ala)
c.3476T>C (p.Val1159Ala)
n.3629T>C (p.Val1210Ala)
7g.117642439T>GCA327262CFTRc.3719T>G (p.Val1240Gly)
c.3809T>G (p.Val1270Gly)
c.3476T>G (p.Val1159Gly)
n.3629T>G (p.Val1210Gly)
ClinVar dbSNP gnomAD
7g.117642440G>ACA457228053CFTRc.3720G>A (p.Val1240=)
c.3810G>A (p.Val1270=)
c.3477G>A (p.Val1159=)
n.3630G>A (p.Val1210=)
7g.117642440G>CCA457228054CFTRc.3720G>C (p.Val1240=)
c.3810G>C (p.Val1270=)
c.3477G>C (p.Val1159=)
n.3630G>C (p.Val1210=)
7g.117642440G>TCA457228055CFTRc.3720G>T (p.Val1240=)
c.3810G>T (p.Val1270=)
c.3477G>T (p.Val1159=)
n.3630G>T (p.Val1210=)
7g.117642441G>ACA368974409CFTRc.3721G>A (p.Gly1241Ser)
c.3811G>A (p.Gly1271Ser)
c.3478G>A (p.Gly1160Ser)
n.3631G>A (p.Gly1211Ser)
7g.117642441G>CCA368974411CFTRc.3721G>C (p.Gly1241Arg)
c.3811G>C (p.Gly1271Arg)
c.3478G>C (p.Gly1160Arg)
n.3631G>C (p.Gly1211Arg)
7g.117642441G>TCA368974414CFTRc.3721G>T (p.Gly1241Cys)
c.3811G>T (p.Gly1271Cys)
c.3478G>T (p.Gly1160Cys)
n.3631G>T (p.Gly1211Cys)
7g.117642442G>ACA368974417CFTRc.3722G>A (p.Gly1241Asp)
c.3812G>A (p.Gly1271Asp)
c.3479G>A (p.Gly1160Asp)
n.3632G>A (p.Gly1211Asp)
gnomAD
7g.117642442G>CCA368974418CFTRc.3722G>C (p.Gly1241Ala)
c.3812G>C (p.Gly1271Ala)
c.3479G>C (p.Gly1160Ala)
n.3632G>C (p.Gly1211Ala)
7g.117642442G>TCA368974420CFTRc.3722G>T (p.Gly1241Val)
c.3812G>T (p.Gly1271Val)
c.3479G>T (p.Gly1160Val)
n.3632G>T (p.Gly1211Val)
7g.117642443C>ACA4451540CFTRc.3723C>A (p.Gly1241=)
c.3813C>A (p.Gly1271=)
c.3480C>A (p.Gly1160=)
n.3633C>A (p.Gly1211=)
ClinVar dbSNP ExAC gnomAD
7g.117642443C>GCA457228056CFTRc.3723C>G (p.Gly1241=)
c.3813C>G (p.Gly1271=)
c.3480C>G (p.Gly1160=)
n.3633C>G (p.Gly1211=)
7g.117642443C>TCA164947466CFTRc.3723C>T (p.Gly1241=)
c.3813C>T (p.Gly1271=)
c.3480C>T (p.Gly1160=)
n.3633C>T (p.Gly1211=)
dbSNP
7g.117642444C>ACA368974425CFTRc.3724C>A (p.Leu1242Ile)
c.3814C>A (p.Leu1272Ile)
c.3481C>A (p.Leu1161Ile)
n.3634C>A (p.Leu1212Ile)
7g.117642444C>GCA368974427CFTRc.3724C>G (p.Leu1242Val)
c.3814C>G (p.Leu1272Val)
c.3481C>G (p.Leu1161Val)
n.3634C>G (p.Leu1212Val)
7g.117642444C>TCA368974429CFTRc.3724C>T (p.Leu1242Phe)
c.3814C>T (p.Leu1272Phe)
c.3481C>T (p.Leu1161Phe)
n.3634C>T (p.Leu1212Phe)
gnomAD
7g.117642445T>ACA368974433CFTRc.3725T>A (p.Leu1242His)
c.3815T>A (p.Leu1272His)
c.3482T>A (p.Leu1161His)
n.3635T>A (p.Leu1212His)

Number of alleles fetched