Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.49061382G>ACA123707NTF4n.616C>T (p.Arg206Trp)
c.243+373C>T (p.=)
c.616C>T (p.Arg206Trp)
c.646C>T (p.Arg216Trp)
ClinVar dbSNP ExAC gnomAD COSMIC
19g.49061382G>CCA406804727NTF4n.616C>G (p.Arg206Gly)
c.243+373C>G (p.=)
c.616C>G (p.Arg206Gly)
c.646C>G (p.Arg216Gly)
19g.49061382G>TCA508278648NTF4n.616C>A (p.Arg206=)
c.243+373C>A (p.=)
c.616C>A (p.Arg206=)
c.646C>A (p.Arg216=)
19g.49061383G>ACA508278649NTF4n.615C>T (p.Ser205=)
c.243+372C>T (p.=)
c.615C>T (p.Ser205=)
c.645C>T (p.Ser215=)
19g.49061383G>CCA406804729NTF4n.615C>G (p.Ser205Arg)
c.243+372C>G (p.=)
c.615C>G (p.Ser205Arg)
c.645C>G (p.Ser215Arg)
19g.49061383G>TCA406804730NTF4n.615C>A (p.Ser205Arg)
c.243+372C>A (p.=)
c.615C>A (p.Ser205Arg)
c.645C>A (p.Ser215Arg)
19g.49061384C>ACA406804731NTF4n.614G>T (p.Ser205Ile)
c.243+371G>T (p.=)
c.614G>T (p.Ser205Ile)
c.644G>T (p.Ser215Ile)
19g.49061384C>GCA406804733NTF4n.614G>C (p.Ser205Thr)
c.243+371G>C (p.=)
c.614G>C (p.Ser205Thr)
c.644G>C (p.Ser215Thr)
19g.49061384C>TCA406804734NTF4n.614G>A (p.Ser205Asn)
c.243+371G>A (p.=)
c.614G>A (p.Ser205Asn)
c.644G>A (p.Ser215Asn)
19g.49061385T>ACA406804736NTF4n.613A>T (p.Ser205Cys)
c.243+370A>T (p.=)
c.613A>T (p.Ser205Cys)
c.643A>T (p.Ser215Cys)
19g.49061385T>CCA309446397NTF4n.613A>G (p.Ser205Gly)
c.243+370A>G (p.=)
c.613A>G (p.Ser205Gly)
c.643A>G (p.Ser215Gly)
dbSNP gnomAD
19g.49061385T>GCA406804738NTF4n.613A>C (p.Ser205Arg)
c.243+370A>C (p.=)
c.613A>C (p.Ser205Arg)
c.643A>C (p.Ser215Arg)
19g.49061386G>ACA508278655NTF4n.612C>T (p.Leu204=)
c.243+369C>T (p.=)
c.612C>T (p.Leu204=)
c.642C>T (p.Leu214=)
19g.49061386G>CCA508278656NTF4n.612C>G (p.Leu204=)
c.243+369C>G (p.=)
c.612C>G (p.Leu204=)
c.642C>G (p.Leu214=)
COSMIC
19g.49061386G>TCA508278658NTF4n.612C>A (p.Leu204=)
c.243+369C>A (p.=)
c.612C>A (p.Leu204=)
c.642C>A (p.Leu214=)
19g.49061387A>CCA406804740NTF4n.611T>G (p.Leu204Arg)
c.243+368T>G (p.=)
c.611T>G (p.Leu204Arg)
c.641T>G (p.Leu214Arg)
gnomAD
19g.49061387A>GCA406804742NTF4n.611T>C (p.Leu204Pro)
c.243+368T>C (p.=)
c.611T>C (p.Leu204Pro)
c.641T>C (p.Leu214Pro)
19g.49061387A>TCA406804741NTF4n.611T>A (p.Leu204His)
c.243+368T>A (p.=)
c.611T>A (p.Leu204His)
c.641T>A (p.Leu214His)
19g.49061388G>ACA406804745NTF4n.610C>T (p.Leu204Phe)
c.243+367C>T (p.=)
c.610C>T (p.Leu204Phe)
c.640C>T (p.Leu214Phe)
gnomAD
19g.49061388G>CCA406804746NTF4n.610C>G (p.Leu204Val)
c.243+367C>G (p.=)
c.610C>G (p.Leu204Val)
c.640C>G (p.Leu214Val)
19g.49061388G>TCA406804748NTF4n.610C>A (p.Leu204Ile)
c.243+367C>A (p.=)
c.610C>A (p.Leu204Ile)
c.640C>A (p.Leu214Ile)
19g.49061389G>ACA508278662NTF4n.609C>T (p.Leu203=)
c.243+366C>T (p.=)
c.609C>T (p.Leu203=)
c.639C>T (p.Leu213=)
19g.49061389G>CCA508278663NTF4n.609C>G (p.Leu203=)
c.243+366C>G (p.=)
c.609C>G (p.Leu203=)
c.639C>G (p.Leu213=)
19g.49061389G>TCA508278664NTF4n.609C>A (p.Leu203=)
c.243+366C>A (p.=)
c.609C>A (p.Leu203=)
c.639C>A (p.Leu213=)
19g.49061390A>CCA406804750NTF4n.608T>G (p.Leu203Arg)
c.243+365T>G (p.=)
c.608T>G (p.Leu203Arg)
c.638T>G (p.Leu213Arg)
19g.49061390A>GCA406804752NTF4n.608T>C (p.Leu203Pro)
c.243+365T>C (p.=)
c.608T>C (p.Leu203Pro)
c.638T>C (p.Leu213Pro)
19g.49061390A>TCA9565595NTF4n.608T>A (p.Leu203His)
c.243+365T>A (p.=)
c.608T>A (p.Leu203His)
c.638T>A (p.Leu213His)
dbSNP ExAC gnomAD
19g.49061391G>ACA406804754NTF4n.607C>T (p.Leu203Phe)
c.243+364C>T (p.=)
c.607C>T (p.Leu203Phe)
c.637C>T (p.Leu213Phe)
19g.49061391G>CCA406804756NTF4n.607C>G (p.Leu203Val)
c.243+364C>G (p.=)
c.607C>G (p.Leu203Val)
c.637C>G (p.Leu213Val)
19g.49061391G>TCA406804758NTF4n.607C>A (p.Leu203Ile)
c.243+364C>A (p.=)
c.607C>A (p.Leu203Ile)
c.637C>A (p.Leu213Ile)
19g.49061392T>ACA508278668NTF4n.606A>T (p.Thr202=)
c.243+363A>T (p.=)
c.606A>T (p.Thr202=)
c.636A>T (p.Thr212=)
19g.49061392T>CCA508278669NTF4n.606A>G (p.Thr202=)
c.243+363A>G (p.=)
c.606A>G (p.Thr202=)
c.636A>G (p.Thr212=)
19g.49061392T>GCA508278670NTF4n.606A>C (p.Thr202=)
c.243+363A>C (p.=)
c.606A>C (p.Thr202=)
c.636A>C (p.Thr212=)
19g.49061393G>ACA9565596NTF4n.605C>T (p.Thr202Ile)
c.243+362C>T (p.=)
c.605C>T (p.Thr202Ile)
c.635C>T (p.Thr212Ile)
dbSNP ExAC gnomAD
19g.49061393G>CCA406804760NTF4n.605C>G (p.Thr202Arg)
c.243+362C>G (p.=)
c.605C>G (p.Thr202Arg)
c.635C>G (p.Thr212Arg)
19g.49061393G>TCA406804762NTF4n.605C>A (p.Thr202Lys)
c.243+362C>A (p.=)
c.605C>A (p.Thr202Lys)
c.635C>A (p.Thr212Lys)
19g.49061394T>ACA406804769NTF4n.604A>T (p.Thr202Ser)
c.243+361A>T (p.=)
c.604A>T (p.Thr202Ser)
c.634A>T (p.Thr212Ser)
19g.49061394T>CCA406804767NTF4n.604A>G (p.Thr202Ala)
c.243+361A>G (p.=)
c.604A>G (p.Thr202Ala)
c.634A>G (p.Thr212Ala)
19g.49061394T>GCA406804765NTF4n.604A>C (p.Thr202Pro)
c.243+361A>C (p.=)
c.604A>C (p.Thr202Pro)
c.634A>C (p.Thr212Pro)
19g.49061395G>ACA9565597NTF4n.603C>T (p.Cys201=)
c.243+360C>T (p.=)
c.603C>T (p.Cys201=)
c.633C>T (p.Cys211=)
dbSNP ExAC gnomAD
19g.49061395G>CCA406804772NTF4n.603C>G (p.Cys201Trp)
c.243+360C>G (p.=)
c.603C>G (p.Cys201Trp)
c.633C>G (p.Cys211Trp)
19g.49061395G>TCA406804774NTF4n.603C>A (p.Cys201Ter)
c.243+360C>A (p.=)
c.603C>A (p.Cys201Ter)
c.633C>A (p.Cys211Ter)
19g.49061396C>ACA406804776NTF4n.602G>T (p.Cys201Phe)
c.243+359G>T (p.=)
c.602G>T (p.Cys201Phe)
c.632G>T (p.Cys211Phe)
19g.49061396C>GCA406804778NTF4n.602G>C (p.Cys201Ser)
c.243+359G>C (p.=)
c.602G>C (p.Cys201Ser)
c.632G>C (p.Cys211Ser)
19g.49061396C>TCA406804780NTF4n.602G>A (p.Cys201Tyr)
c.243+359G>A (p.=)
c.602G>A (p.Cys201Tyr)
c.632G>A (p.Cys211Tyr)
gnomAD
19g.49061397A>CCA406804782NTF4n.601T>G (p.Cys201Gly)
c.243+358T>G (p.=)
c.601T>G (p.Cys201Gly)
c.631T>G (p.Cys211Gly)
19g.49061397A>GCA406804783NTF4n.601T>C (p.Cys201Arg)
c.243+358T>C (p.=)
c.601T>C (p.Cys201Arg)
c.631T>C (p.Cys211Arg)
19g.49061397A>TCA406804784NTF4n.601T>A (p.Cys201Ser)
c.243+358T>A (p.=)
c.601T>A (p.Cys201Ser)
c.631T>A (p.Cys211Ser)
19g.49061398G>ACA508278679NTF4n.600C>T (p.Val200=)
c.243+357C>T (p.=)
c.600C>T (p.Val200=)
c.630C>T (p.Val210=)
19g.49061398G>CCA508278682NTF4n.600C>G (p.Val200=)
c.243+357C>G (p.=)
c.600C>G (p.Val200=)
c.630C>G (p.Val210=)

Number of alleles fetched