Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
19g.49061398G>TCA508278683NTF4n.600C>A (p.Val200=)
c.243+357C>A (p.=)
c.600C>A (p.Val200=)
c.630C>A (p.Val210=)
19g.49061399A>CCA406804785NTF4n.599T>G (p.Val200Gly)
c.243+356T>G (p.=)
c.599T>G (p.Val200Gly)
c.629T>G (p.Val210Gly)
19g.49061399A>GCA406804787NTF4n.599T>C (p.Val200Ala)
c.243+356T>C (p.=)
c.599T>C (p.Val200Ala)
c.629T>C (p.Val210Ala)
19g.49061399A>TCA406804788NTF4n.599T>A (p.Val200Asp)
c.243+356T>A (p.=)
c.599T>A (p.Val200Asp)
c.629T>A (p.Val210Asp)
gnomAD
19g.49061400C>ACA406804793NTF4n.598G>T (p.Val200Phe)
c.243+355G>T (p.=)
c.598G>T (p.Val200Phe)
c.628G>T (p.Val210Phe)
19g.49061400C>GCA406804791NTF4n.598G>C (p.Val200Leu)
c.243+355G>C (p.=)
c.598G>C (p.Val200Leu)
c.628G>C (p.Val210Leu)
19g.49061400C>TCA9565598NTF4n.598G>A (p.Val200Ile)
c.243+355G>A (p.=)
c.598G>A (p.Val200Ile)
c.628G>A (p.Val210Ile)
dbSNP ExAC gnomAD COSMIC
19g.49061401G>ACA9565599NTF4n.597C>T (p.Cys199=)
c.243+354C>T (p.=)
c.597C>T (p.Cys199=)
c.627C>T (p.Cys209=)
dbSNP ExAC gnomAD COSMIC
19g.49061401G>CCA406804798NTF4n.597C>G (p.Cys199Trp)
c.243+354C>G (p.=)
c.597C>G (p.Cys199Trp)
c.627C>G (p.Cys209Trp)
19g.49061401G>TCA406804796NTF4n.597C>A (p.Cys199Ter)
c.243+354C>A (p.=)
c.597C>A (p.Cys199Ter)
c.627C>A (p.Cys209Ter)
19g.49061402C>ACA406804800NTF4n.596G>T (p.Cys199Phe)
c.243+353G>T (p.=)
c.596G>T (p.Cys199Phe)
c.626G>T (p.Cys209Phe)
19g.49061402C>GCA406804803NTF4n.596G>C (p.Cys199Ser)
c.243+353G>C (p.=)
c.596G>C (p.Cys199Ser)
c.626G>C (p.Cys209Ser)
19g.49061402C>TCA406804801NTF4n.596G>A (p.Cys199Tyr)
c.243+353G>A (p.=)
c.596G>A (p.Cys199Tyr)
c.626G>A (p.Cys209Tyr)
19g.49061403A>CCA406804805NTF4n.595T>G (p.Cys199Gly)
c.243+352T>G (p.=)
c.595T>G (p.Cys199Gly)
c.625T>G (p.Cys209Gly)
19g.49061403A>GCA406804809NTF4n.595T>C (p.Cys199Arg)
c.243+352T>C (p.=)
c.595T>C (p.Cys199Arg)
c.625T>C (p.Cys209Arg)
19g.49061403A>TCA406804807NTF4n.595T>A (p.Cys199Ser)
c.243+352T>A (p.=)
c.595T>A (p.Cys199Ser)
c.625T>A (p.Cys209Ser)
19g.49061404G>ACA508278692NTF4n.594C>T (p.Ala198=)
c.243+351C>T (p.=)
c.594C>T (p.Ala198=)
c.624C>T (p.Ala208=)
19g.49061404G>CCA508278698NTF4n.594C>G (p.Ala198=)
c.243+351C>G (p.=)
c.594C>G (p.Ala198=)
c.624C>G (p.Ala208=)
19g.49061404G>TCA508278699NTF4n.594C>A (p.Ala198=)
c.243+351C>A (p.=)
c.594C>A (p.Ala198=)
c.624C>A (p.Ala208=)
19g.49061405G>ACA9565600NTF4n.593C>T (p.Ala198Val)
c.243+350C>T (p.=)
c.593C>T (p.Ala198Val)
c.623C>T (p.Ala208Val)
dbSNP ExAC gnomAD COSMIC
19g.49061405G>CCA406804812NTF4n.593C>G (p.Ala198Gly)
c.243+350C>G (p.=)
c.593C>G (p.Ala198Gly)
c.623C>G (p.Ala208Gly)
19g.49061405G>TCA406804814NTF4n.593C>A (p.Ala198Asp)
c.243+350C>A (p.=)
c.593C>A (p.Ala198Asp)
c.623C>A (p.Ala208Asp)
19g.49061406C>ACA406804816NTF4n.592G>T (p.Ala198Ser)
c.243+349G>T (p.=)
c.592G>T (p.Ala198Ser)
c.622G>T (p.Ala208Ser)
19g.49061406C>GCA406804817NTF4n.592G>C (p.Ala198Pro)
c.243+349G>C (p.=)
c.592G>C (p.Ala198Pro)
c.622G>C (p.Ala208Pro)
19g.49061406C>TCA406804819NTF4n.592G>A (p.Ala198Thr)
c.243+349G>A (p.=)
c.592G>A (p.Ala198Thr)
c.622G>A (p.Ala208Thr)
19g.49061407A>CCA508278703NTF4n.591T>G (p.Thr197=)
c.243+348T>G (p.=)
c.591T>G (p.Thr197=)
c.621T>G (p.Thr207=)
19g.49061407A>GCA508278705NTF4n.591T>C (p.Thr197=)
c.243+348T>C (p.=)
c.591T>C (p.Thr197=)
c.621T>C (p.Thr207=)
19g.49061407A>TCA508278706NTF4n.591T>A (p.Thr197=)
c.243+348T>A (p.=)
c.591T>A (p.Thr197=)
c.621T>A (p.Thr207=)
19g.49061408G>ACA406804821NTF4n.590C>T (p.Thr197Ile)
c.243+347C>T (p.=)
c.590C>T (p.Thr197Ile)
c.620C>T (p.Thr207Ile)
19g.49061408G>CCA309446419NTF4n.590C>G (p.Thr197Ser)
c.243+347C>G (p.=)
c.590C>G (p.Thr197Ser)
c.620C>G (p.Thr207Ser)
dbSNP
19g.49061408G>TCA406804823NTF4n.590C>A (p.Thr197Asn)
c.243+347C>A (p.=)
c.590C>A (p.Thr197Asn)
c.620C>A (p.Thr207Asn)
19g.49061409T>ACA406804825NTF4n.589A>T (p.Thr197Ser)
c.243+346A>T (p.=)
c.589A>T (p.Thr197Ser)
c.619A>T (p.Thr207Ser)
19g.49061409T>CCA406804826NTF4n.589A>G (p.Thr197Ala)
c.243+346A>G (p.=)
c.589A>G (p.Thr197Ala)
c.619A>G (p.Thr207Ala)

Number of alleles fetched