| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.101426493_101432940del | CA129578 | ALDOB | c.-10-2043_624+62del | ClinVar |
| 9 | g.101427498G>A | CA374265197 | ALDOB | c.524C>T (p.Ala175Val) n.68-860C>T | gnomAD v4 |
| 9 | g.101427498G>C | CA374265198 | ALDOB | c.524C>G (p.Ala175Gly) n.68-860C>G | |
| 9 | g.101427498G= | CA1868280060 | ALDOB | c.524C= (p.Ala175=) n.68-860C= | |
| 9 | g.101427498G>T | CA339811 | ALDOB | c.524C>A (p.Ala175Asp) n.68-860C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101427499C>A | CA374265199 | ALDOB | c.523G>T (p.Ala175Ser) n.68-861G>T | |
| 9 | g.101427499C= | CA1868280061 | ALDOB | c.523G= (p.Ala175=) n.68-861G= | |
| 9 | g.101427499C>G | CA5161573 | ALDOB | c.523G>C (p.Ala175Pro) n.68-861G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101427499C>T | CA5161572 | ALDOB | c.523G>A (p.Ala175Thr) n.68-861G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.101427500G>A | CA5161574 | ALDOB | c.522C>T (p.Tyr174=) n.68-862C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101427500G>C | CA374265200 | ALDOB | c.522C>G (p.Tyr174Ter) n.68-862C>G | ClinVar dbSNP gnomAD v4 |
| 9 | g.101427500G= | CA1868280062 | ALDOB | c.522C= (p.Tyr174=) n.68-862C= | |
| 9 | g.101427500G>T | CA374265201 | ALDOB | c.522C>A (p.Tyr174Ter) n.68-862C>A | gnomAD v4 |
| 9 | g.101427501T>A | CA374265202 | ALDOB | c.521A>T (p.Tyr174Phe) n.68-863A>T | |
| 9 | g.101427501T>C | CA374265203 | ALDOB | c.521A>G (p.Tyr174Cys) n.68-863A>G | COSMIC |
| 9 | g.101427501T>G | CA196957340 | ALDOB | c.521A>C (p.Tyr174Ser) n.68-863A>C | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101427501T= | CA1868280063 | ALDOB | c.521A= (p.Tyr174=) n.68-863A= | |
| 9 | g.101427502A= | CA1868280064 | ALDOB | c.520T= (p.Tyr174=) n.68-864T= | |
| 9 | g.101427502A>C | CA374265205 | ALDOB | c.520T>G (p.Tyr174Asp) n.68-864T>G | |
| 9 | g.101427502A>G | CA196957342 | ALDOB | c.520T>C (p.Tyr174His) n.68-864T>C | dbSNP |
| 9 | g.101427502A>T | CA374265204 | ALDOB | c.520T>A (p.Tyr174Asn) n.68-864T>A | |
| 9 | g.101427503G>A | CA466462855 | ALDOB | c.519C>T (p.Arg173=) n.68-865C>T | |
| 9 | g.101427503G>C | CA466462856 | ALDOB | c.519C>G (p.Arg173=) n.68-865C>G | |
| 9 | g.101427503G>T | CA466462857 | ALDOB | c.519C>A (p.Arg173=) n.68-865C>A | |
| 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 |