Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.101426493_101432940del | CA129578 | ALDOB | c.-10-2043_624+62del | ClinVar |
9 | g.101427473_101427481delinsGCAGAGCAC | CA1868280049 | ALDOB | c.540+1_540+9delinsGTGCTCTGC (n.540+1_540+9delinsGTGCTCTGC) n.68-843_68-835delinsGTGCTCTGC | |
9 | g.101427475_101427482del | CA1868280051 | ALDOB | c.540+1_540+8del n.68-843_68-836del | dbSNP |
9 | g.101427480A>C | CA374265157 | ALDOB | c.540+2T>G (n.540+2T>G) n.68-842T>G | |
9 | g.101427480A>G | CA374265156 | ALDOB | c.540+2T>C (n.540+2T>C) n.68-842T>C | |
9 | g.101427480A>T | CA374265158 | ALDOB | c.540+2T>A (n.540+2T>A) n.68-842T>A | |
9 | g.101427481C>A | CA374265159 | ALDOB | c.540+1G>T (n.540+1G>T) n.68-843G>T | |
9 | g.101427481C>G | CA374265161 | ALDOB | c.540+1G>C (n.540+1G>C) n.68-843G>C | ClinVar dbSNP gnomAD v4 |
9 | g.101427481C>T | CA374265160 | ALDOB | c.540+1G>A (n.540+1G>A) n.68-843G>A | gnomAD v4 |
9 | g.101427482C>A | CA374265162 | ALDOB | c.540G>T (p.Gln180His) n.68-844G>T | |
9 | g.101427482C>G | CA374265163 | ALDOB | c.540G>C (p.Gln180His) n.68-844G>C | |
9 | g.101427482C>T | CA466462849 | ALDOB | c.540G>A (p.Gln180=) n.68-844G>A | COSMIC |
9 | g.101427483del | CA2580079282 | ALDOB | c.539del (p.Gln180ArgfsTer12) n.68-845del | ClinVar |
9 | g.101427483T>A | CA374265164 | ALDOB | c.539A>T (p.Gln180Leu) n.68-845A>T | |
9 | g.101427483T>C | CA374265165 | ALDOB | c.539A>G (p.Gln180Arg) n.68-845A>G | gnomAD v4 |
9 | g.101427483T>G | CA374265166 | ALDOB | c.539A>C (p.Gln180Pro) n.68-845A>C | |
9 | g.101427484G>A | CA374265167 | ALDOB | c.538C>T (p.Gln180Ter) n.68-846C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.101427484G>C | CA374265168 | ALDOB | c.538C>G (p.Gln180Glu) n.68-846C>G | |
9 | g.101427484G= | CA1868280053 | ALDOB | c.538C= (p.Gln180=) n.68-846C= | |
9 | g.101427484G>T | CA5161565 | ALDOB | c.538C>A (p.Gln180Lys) n.68-846C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101427485C>A | CA374265169 | ALDOB | c.537G>T (p.Gln179His) n.68-847G>T | |
9 | g.101427485C= | CA1868280054 | ALDOB | c.537G= (p.Gln179=) n.68-847G= | |
9 | g.101427485C>G | CA374265170 | ALDOB | c.537G>C (p.Gln179His) n.68-847G>C | |
9 | g.101427485C>T | CA5161566 | ALDOB | c.537G>A (p.Gln179=) n.68-847G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101427486T>A | CA374265173 | ALDOB | c.536A>T (p.Gln179Leu) n.68-848A>T | |
9 | g.101427486T>C | CA374265171 | ALDOB | c.536A>G (p.Gln179Arg) n.68-848A>G | |
9 | g.101427486T>G | CA374265172 | ALDOB | c.536A>C (p.Gln179Pro) n.68-848A>C | gnomAD v4 |
9 | g.101427487G>A | CA374265174 | ALDOB | c.535C>T (p.Gln179Ter) n.68-849C>T | gnomAD v4 |
9 | g.101427487G>C | CA374265175 | ALDOB | c.535C>G (p.Gln179Glu) n.68-849C>G | |
9 | g.101427487G>T | CA374265176 | ALDOB | c.535C>A (p.Gln179Lys) n.68-849C>A | COSMIC |
9 | g.101427488A>C | CA374265177 | ALDOB | c.534T>G (p.Cys178Trp) n.68-850T>G | |
9 | g.101427488A>G | CA466462850 | ALDOB | c.534T>C (p.Cys178=) n.68-850T>C | |
9 | g.101427488A>T | CA374265178 | ALDOB | c.534T>A (p.Cys178Ter) n.68-850T>A | |
9 | g.101427489C>A | CA374265179 | ALDOB | c.533G>T (p.Cys178Phe) n.68-851G>T | gnomAD v4 |
9 | g.101427489C>G | CA374265180 | ALDOB | c.533G>C (p.Cys178Ser) n.68-851G>C | |
9 | g.101427489C>T | CA374265181 | ALDOB | c.533G>A (p.Cys178Tyr) n.68-851G>A | gnomAD v4 |
9 | g.101427490A>C | CA374265182 | ALDOB | c.532T>G (p.Cys178Gly) n.68-852T>G | |
9 | g.101427490A>G | CA374265183 | ALDOB | c.532T>C (p.Cys178Arg) n.68-852T>C | ClinVar dbSNP |
9 | g.101427490A>T | CA374265184 | ALDOB | c.532T>A (p.Cys178Ser) n.68-852T>A | |
9 | g.101427491G>A | CA466462851 | ALDOB | c.531C>T (p.Ile177=) n.68-853C>T | ClinVar dbSNP |
9 | g.101427491G>C | CA374265185 | ALDOB | c.531C>G (p.Ile177Met) n.68-853C>G | |
9 | g.101427491G= | CA1868280055 | ALDOB | c.531C= (p.Ile177=) n.68-853C= | |
9 | g.101427491G>T | CA5161567 | ALDOB | c.531C>A (p.Ile177=) n.68-853C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101427492A= | CA1868280056 | ALDOB | c.530T= (p.Ile177=) n.68-854T= | |
9 | g.101427492A>C | CA374265186 | ALDOB | c.530T>G (p.Ile177Ser) n.68-854T>G | |
9 | g.101427492A>G | CA374265187 | ALDOB | c.530T>C (p.Ile177Thr) n.68-854T>C | |
9 | g.101427492A>T | CA5161568 | ALDOB | c.530T>A (p.Ile177Asn) n.68-854T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101427493T>A | CA374265188 | ALDOB | c.529A>T (p.Ile177Phe) n.68-855A>T | |
9 | g.101427493T>C | CA5161570 | ALDOB | c.529A>G (p.Ile177Val) n.68-855A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101427493T>G | CA5161569 | ALDOB | c.529A>C (p.Ile177Leu) n.68-855A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |