Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.101426493_101432940del | CA129578 | ALDOB | c.-10-2043_624+62del | ClinVar |
9 | g.101427510A= | CA1868280067 | ALDOB | c.512T= (p.Leu171=) n.68-872T= | |
9 | g.101427510A>C | CA374265215 | ALDOB | c.512T>G (p.Leu171Arg) n.68-872T>G | |
9 | g.101427510A>G | CA374265216 | ALDOB | c.512T>C (p.Leu171Pro) n.68-872T>C | dbSNP gnomAD v3 gnomAD v4 |
9 | g.101427510A>T | CA374265217 | ALDOB | c.512T>A (p.Leu171Gln) n.68-872T>A | |
9 | g.101427511G>A | CA466462865 | ALDOB | c.511C>T (p.Leu171=) n.68-873C>T | ClinVar dbSNP |
9 | g.101427511G>C | CA374265218 | ALDOB | c.511C>G (p.Leu171Val) n.68-873C>G | |
9 | g.101427511G>T | CA374265219 | ALDOB | c.511C>A (p.Leu171Met) n.68-873C>A | |
9 | g.101427512G>A | CA466462866 | ALDOB | c.510C>T (p.Ala170=) n.68-874C>T | ClinVar gnomAD v4 |
9 | g.101427512G>C | CA466462867 | ALDOB | c.510C>G (p.Ala170=) n.68-874C>G | |
9 | g.101427512G>T | CA466462869 | ALDOB | c.510C>A (p.Ala170=) n.68-874C>A | |
9 | g.101427513G>A | CA5161578 | ALDOB | c.509C>T (p.Ala170Val) n.68-875C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101427513G>C | CA374265220 | ALDOB | c.509C>G (p.Ala170Gly) n.68-875C>G | gnomAD v4 |
9 | g.101427513G= | CA1868280068 | ALDOB | c.509C= (p.Ala170=) n.68-875C= | |
9 | g.101427513G>T | CA374265221 | ALDOB | c.509C>A (p.Ala170Asp) n.68-875C>A | |
9 | g.101427514C>A | CA374265222 | ALDOB | c.508G>T (p.Ala170Ser) n.68-876G>T | gnomAD v4 |
9 | g.101427514C= | CA1868280069 | ALDOB | c.508G= (p.Ala170=) n.68-876G= | |
9 | g.101427514C>G | CA374265223 | ALDOB | c.508G>C (p.Ala170Pro) n.68-876G>C | |
9 | g.101427514C>T | CA5161579 | ALDOB | c.508G>A (p.Ala170Thr) n.68-876G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101427515G>A | CA5161581 | ALDOB | c.507C>T (p.Asn169=) n.68-877C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101427515G>C | CA374265224 | ALDOB | c.507C>G (p.Asn169Lys) n.68-877C>G | |
9 | g.101427515G= | CA1868280070 | ALDOB | c.507C= (p.Asn169=) n.68-877C= | |
9 | g.101427515G>T | CA5161580 | ALDOB | c.507C>A (p.Asn169Lys) n.68-877C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101427516T>A | CA374265225 | ALDOB | c.506A>T (p.Asn169Ile) n.68-878A>T | |
9 | g.101427516T>C | CA374265226 | ALDOB | c.506A>G (p.Asn169Ser) n.68-878A>G | gnomAD v4 |
9 | g.101427516T>G | CA374265227 | ALDOB | c.506A>C (p.Asn169Thr) n.68-878A>C | |
9 | g.101427517T>A | CA374265230 | ALDOB | c.505A>T (p.Asn169Tyr) n.68-879A>T | |
9 | g.101427517T>C | CA374265229 | ALDOB | c.505A>G (p.Asn169Asp) n.68-879A>G | ClinVar dbSNP gnomAD v4 |
9 | g.101427517T>G | CA374265228 | ALDOB | c.505A>C (p.Asn169His) n.68-879A>C | |
9 | g.101427517T= | CA1868280071 | ALDOB | c.505A= (p.Asn169=) n.68-879A= | |
9 | g.101427518G>A | CA466462872 | ALDOB | c.504C>T (p.Ala168=) n.68-880C>T | |
9 | g.101427518G>C | CA466462874 | ALDOB | c.504C>G (p.Ala168=) n.68-880C>G | |
9 | g.101427518G>T | CA466462873 | ALDOB | c.504C>A (p.Ala168=) n.68-880C>A | |
9 | g.101427519G>A | CA5161582 | ALDOB | c.503C>T (p.Ala168Val) n.68-881C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101427519G>C | CA374265231 | ALDOB | c.503C>G (p.Ala168Gly) n.68-881C>G | |
9 | g.101427519G= | CA1868280072 | ALDOB | c.503C= (p.Ala168=) n.68-881C= | |
9 | g.101427519G>T | CA374265232 | ALDOB | c.503C>A (p.Ala168Asp) n.68-881C>A | COSMIC |
9 | g.101427520C>A | CA374265233 | ALDOB | c.502G>T (p.Ala168Ser) n.68-882G>T | COSMIC |
9 | g.101427520C= | CA1868280073 | ALDOB | c.502G= (p.Ala168=) n.68-882G= | |
9 | g.101427520C>G | CA374265234 | ALDOB | c.502G>C (p.Ala168Pro) n.68-882G>C | |
9 | g.101427520C>T | CA5161583 | ALDOB | c.502G>A (p.Ala168Thr) n.68-882G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.101427521G>A | CA5161584 | ALDOB | c.501C>T (p.Asn167=) n.68-883C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.101427521G>C | CA374265235 | ALDOB | c.501C>G (p.Asn167Lys) n.68-883C>G | |
9 | g.101427521G= | CA1868280074 | ALDOB | c.501C= (p.Asn167=) n.68-883C= | |
9 | g.101427521G>T | CA196957357 | ALDOB | c.501C>A (p.Asn167Lys) n.68-883C>A | dbSNP gnomAD v4 |
9 | g.101427522T>A | CA374265236 | ALDOB | c.500A>T (p.Asn167Ile) n.68-884A>T | |
9 | g.101427522T>C | CA374265237 | ALDOB | c.500A>G (p.Asn167Ser) n.68-884A>G | |
9 | g.101427522T>G | CA374265238 | ALDOB | c.500A>C (p.Asn167Thr) n.68-884A>C | |
9 | g.101427523T>A | CA374265240 | ALDOB | c.499A>T (p.Asn167Tyr) n.68-885A>T | |
9 | g.101427523T>C | CA374265241 | ALDOB | c.499A>G (p.Asn167Asp) n.68-885A>G | dbSNP |