Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.49061391G>A | CA406804754 | NTF4 | c.607C>T (p.Leu203Phe) c.243+364C>T (n.243+364C>T) c.637C>T (p.Leu213Phe) n.652C>T | |
19 | g.49061391G>C | CA406804756 | NTF4 | c.607C>G (p.Leu203Val) c.243+364C>G (n.243+364C>G) c.637C>G (p.Leu213Val) n.652C>G | |
19 | g.49061391G>T | CA406804758 | NTF4 | c.607C>A (p.Leu203Ile) c.243+364C>A (n.243+364C>A) c.637C>A (p.Leu213Ile) n.652C>A | |
19 | g.49061392T>A | CA508278668 | NTF4 | c.606A>T (p.Thr202=) c.243+363A>T (n.243+363A>T) c.636A>T (p.Thr212=) n.651A>T | |
19 | g.49061392T>C | CA508278669 | NTF4 | c.606A>G (p.Thr202=) c.243+363A>G (n.243+363A>G) c.636A>G (p.Thr212=) n.651A>G | gnomAD v4 |
19 | g.49061392T>G | CA508278670 | NTF4 | c.606A>C (p.Thr202=) c.243+363A>C (n.243+363A>C) c.636A>C (p.Thr212=) n.651A>C | |
19 | g.49061393G>A | CA9565596 | NTF4 | c.605C>T (p.Thr202Ile) c.243+362C>T (n.243+362C>T) c.635C>T (p.Thr212Ile) n.650C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49061393G>C | CA406804760 | NTF4 | c.605C>G (p.Thr202Arg) c.243+362C>G (n.243+362C>G) c.635C>G (p.Thr212Arg) n.650C>G | |
19 | g.49061393G= | CA2340217249 | NTF4 | c.605C= (p.Thr202=) c.243+362C= (n.243+362C=) c.635C= (p.Thr212=) n.650C= | |
19 | g.49061393G>T | CA406804762 | NTF4 | c.605C>A (p.Thr202Lys) c.243+362C>A (n.243+362C>A) c.635C>A (p.Thr212Lys) n.650C>A | |
19 | g.49061394T>A | CA406804769 | NTF4 | c.604A>T (p.Thr202Ser) c.243+361A>T (n.243+361A>T) c.634A>T (p.Thr212Ser) n.649A>T | |
19 | g.49061394T>C | CA406804767 | NTF4 | c.604A>G (p.Thr202Ala) c.243+361A>G (n.243+361A>G) c.634A>G (p.Thr212Ala) n.649A>G | |
19 | g.49061394T>G | CA406804765 | NTF4 | c.604A>C (p.Thr202Pro) c.243+361A>C (n.243+361A>C) c.634A>C (p.Thr212Pro) n.649A>C | |
19 | g.49061395G>A | CA9565597 | NTF4 | c.603C>T (p.Cys201=) c.243+360C>T (n.243+360C>T) c.633C>T (p.Cys211=) n.648C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061395G>C | CA406804772 | NTF4 | c.603C>G (p.Cys201Trp) c.243+360C>G (n.243+360C>G) c.633C>G (p.Cys211Trp) n.648C>G | |
19 | g.49061395G= | CA2340217250 | NTF4 | c.603C= (p.Cys201=) c.243+360C= (n.243+360C=) c.633C= (p.Cys211=) n.648C= | |
19 | g.49061395G>T | CA406804774 | NTF4 | c.603C>A (p.Cys201Ter) c.243+360C>A (n.243+360C>A) c.633C>A (p.Cys211Ter) n.648C>A | |
19 | g.49061396C>A | CA406804776 | NTF4 | c.602G>T (p.Cys201Phe) c.243+359G>T (n.243+359G>T) c.632G>T (p.Cys211Phe) n.647G>T | gnomAD v4 |
19 | g.49061396C= | CA2340217251 | NTF4 | c.602G= (p.Cys201=) c.243+359G= (n.243+359G=) c.632G= (p.Cys211=) n.647G= | |
19 | g.49061396C>G | CA406804778 | NTF4 | c.602G>C (p.Cys201Ser) c.243+359G>C (n.243+359G>C) c.632G>C (p.Cys211Ser) n.647G>C | |
19 | g.49061396C>T | CA406804780 | NTF4 | c.602G>A (p.Cys201Tyr) c.243+359G>A (n.243+359G>A) c.632G>A (p.Cys211Tyr) n.647G>A | dbSNP gnomAD v2 |
19 | g.49061397A= | CA2340217252 | NTF4 | c.601T= (p.Cys201=) c.243+358T= (n.243+358T=) c.631T= (p.Cys211=) n.646T= | |
19 | g.49061397A>C | CA406804782 | NTF4 | c.601T>G (p.Cys201Gly) c.243+358T>G (n.243+358T>G) c.631T>G (p.Cys211Gly) n.646T>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49061397A>G | CA406804783 | NTF4 | c.601T>C (p.Cys201Arg) c.243+358T>C (n.243+358T>C) c.631T>C (p.Cys211Arg) n.646T>C | |
19 | g.49061397A>T | CA406804784 | NTF4 | c.601T>A (p.Cys201Ser) c.243+358T>A (n.243+358T>A) c.631T>A (p.Cys211Ser) n.646T>A | |
19 | g.49061398G>A | CA508278679 | NTF4 | c.600C>T (p.Val200=) c.243+357C>T (n.243+357C>T) c.630C>T (p.Val210=) n.645C>T | |
19 | g.49061398G>C | CA508278682 | NTF4 | c.600C>G (p.Val200=) c.243+357C>G (n.243+357C>G) c.630C>G (p.Val210=) n.645C>G | |
19 | g.49061398G>T | CA508278683 | NTF4 | c.600C>A (p.Val200=) c.243+357C>A (n.243+357C>A) c.630C>A (p.Val210=) n.645C>A | |
19 | g.49061399A= | CA2340217253 | NTF4 | c.599T= (p.Val200=) c.243+356T= (n.243+356T=) c.629T= (p.Val210=) n.644T= | |
19 | g.49061399A>C | CA406804785 | NTF4 | c.599T>G (p.Val200Gly) c.243+356T>G (n.243+356T>G) c.629T>G (p.Val210Gly) n.644T>G | |
19 | g.49061399A>G | CA406804787 | NTF4 | c.599T>C (p.Val200Ala) c.243+356T>C (n.243+356T>C) c.629T>C (p.Val210Ala) n.644T>C | |
19 | g.49061399A>T | CA406804788 | NTF4 | c.599T>A (p.Val200Asp) c.243+356T>A (n.243+356T>A) c.629T>A (p.Val210Asp) n.644T>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061400C>A | CA406804793 | NTF4 | c.598G>T (p.Val200Phe) c.243+355G>T (n.243+355G>T) c.628G>T (p.Val210Phe) n.643G>T | |
19 | g.49061400C= | CA2340217254 | NTF4 | c.598G= (p.Val200=) c.243+355G= (n.243+355G=) c.628G= (p.Val210=) n.643G= | |
19 | g.49061400C>G | CA406804791 | NTF4 | c.598G>C (p.Val200Leu) c.243+355G>C (n.243+355G>C) c.628G>C (p.Val210Leu) n.643G>C | |
19 | g.49061400C>T | CA9565598 | NTF4 | c.598G>A (p.Val200Ile) c.243+355G>A (n.243+355G>A) c.628G>A (p.Val210Ile) n.643G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.49061401G>A | CA9565599 | NTF4 | c.597C>T (p.Cys199=) c.243+354C>T (n.243+354C>T) c.627C>T (p.Cys209=) n.642C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.49061401G>C | CA406804798 | NTF4 | c.597C>G (p.Cys199Trp) c.243+354C>G (n.243+354C>G) c.627C>G (p.Cys209Trp) n.642C>G | |
19 | g.49061401G= | CA2340217255 | NTF4 | c.597C= (p.Cys199=) c.243+354C= (n.243+354C=) c.627C= (p.Cys209=) n.642C= | |
19 | g.49061401G>T | CA406804796 | NTF4 | c.597C>A (p.Cys199Ter) c.243+354C>A (n.243+354C>A) c.627C>A (p.Cys209Ter) n.642C>A | gnomAD v4 |
19 | g.49061402C>A | CA406804800 | NTF4 | c.596G>T (p.Cys199Phe) c.243+353G>T (n.243+353G>T) c.626G>T (p.Cys209Phe) n.641G>T | |
19 | g.49061402C>G | CA406804803 | NTF4 | c.596G>C (p.Cys199Ser) c.243+353G>C (n.243+353G>C) c.626G>C (p.Cys209Ser) n.641G>C | |
19 | g.49061402C>T | CA406804801 | NTF4 | c.596G>A (p.Cys199Tyr) c.243+353G>A (n.243+353G>A) c.626G>A (p.Cys209Tyr) n.641G>A | gnomAD v4 |
19 | g.49061403A>C | CA406804805 | NTF4 | c.595T>G (p.Cys199Gly) c.243+352T>G (n.243+352T>G) c.625T>G (p.Cys209Gly) n.640T>G | |
19 | g.49061403A>G | CA406804809 | NTF4 | c.595T>C (p.Cys199Arg) c.243+352T>C (n.243+352T>C) c.625T>C (p.Cys209Arg) n.640T>C | |
19 | g.49061403A>T | CA406804807 | NTF4 | c.595T>A (p.Cys199Ser) c.243+352T>A (n.243+352T>A) c.625T>A (p.Cys209Ser) n.640T>A | |
19 | g.49061404G>A | CA508278692 | NTF4 | c.594C>T (p.Ala198=) c.243+351C>T (n.243+351C>T) c.624C>T (p.Ala208=) n.639C>T | |
19 | g.49061404G>C | CA508278698 | NTF4 | c.594C>G (p.Ala198=) c.243+351C>G (n.243+351C>G) c.624C>G (p.Ala208=) n.639C>G | |
19 | g.49061404G>T | CA508278699 | NTF4 | c.594C>A (p.Ala198=) c.243+351C>A (n.243+351C>A) c.624C>A (p.Ala208=) n.639C>A | gnomAD v4 |
19 | g.49061405G>A | CA9565600 | NTF4 | c.593C>T (p.Ala198Val) c.243+350C>T (n.243+350C>T) c.623C>T (p.Ala208Val) n.638C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |