| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.101426493_101432940del | CA129578 | ALDOB | c.-10-2043_624+62del | ClinVar |
| 9 | g.101427504C>A | CA374265207 | ALDOB | c.518G>T (p.Arg173Leu) n.68-866G>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101427504C= | CA1868280065 | ALDOB | c.518G= (p.Arg173=) n.68-866G= | |
| 9 | g.101427504C>G | CA374265206 | ALDOB | c.518G>C (p.Arg173Pro) n.68-866G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101427504C>T | CA5161575 | ALDOB | c.518G>A (p.Arg173His) n.68-866G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101427505G>A | CA5161577 | ALDOB | c.517C>T (p.Arg173Cys) n.68-867C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.101427505G>C | CA374265208 | ALDOB | c.517C>G (p.Arg173Gly) n.68-867C>G | gnomAD v4 |
| 9 | g.101427505G= | CA1868280066 | ALDOB | c.517C= (p.Arg173=) n.68-867C= | |
| 9 | g.101427505G>T | CA5161576 | ALDOB | c.517C>A (p.Arg173Ser) n.68-867C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101427506A>C | CA466462858 | ALDOB | c.516T>G (p.Ala172=) n.68-868T>G | |
| 9 | g.101427506A>G | CA466462859 | ALDOB | c.516T>C (p.Ala172=) n.68-868T>C | |
| 9 | g.101427506A>T | CA466462860 | ALDOB | c.516T>A (p.Ala172=) n.68-868T>A | |
| 9 | g.101427507G>A | CA374265209 | ALDOB | c.515C>T (p.Ala172Val) n.68-869C>T | |
| 9 | g.101427507G>C | CA374265210 | ALDOB | c.515C>G (p.Ala172Gly) n.68-869C>G | |
| 9 | g.101427507G>T | CA374265211 | ALDOB | c.515C>A (p.Ala172Asp) n.68-869C>A | |
| 9 | g.101427508C>A | CA374265212 | ALDOB | c.514G>T (p.Ala172Ser) n.68-870G>T | |
| 9 | g.101427508C>G | CA374265213 | ALDOB | c.514G>C (p.Ala172Pro) n.68-870G>C | |
| 9 | g.101427508C>T | CA374265214 | ALDOB | c.514G>A (p.Ala172Thr) n.68-870G>A | COSMIC |
| 9 | g.101427509C>A | CA466462861 | ALDOB | c.513G>T (p.Leu171=) n.68-871G>T | |
| 9 | g.101427509C>G | CA466462862 | ALDOB | c.513G>C (p.Leu171=) n.68-871G>C | |
| 9 | g.101427509C>T | CA466462863 | ALDOB | c.513G>A (p.Leu171=) n.68-871G>A | |
| 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 | 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= |