| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.101424931C>A | CA374264361 | ALDOB | c.911G>T (p.Arg304Leu) c.904+7G>T (n.904+7G>T) | |
| 9 | g.101424931C= | CA1868278579 | ALDOB | c.911G= (p.Arg304=) c.904+7G= (n.904+7G=) | |
| 9 | g.101424931C>G | CA5161433 | ALDOB | c.911G>C (p.Arg304Pro) c.904+7G>C (n.904+7G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101424931C>T | CA5161432 | ALDOB | c.911G>A (p.Arg304Gln) c.904+7G>A (n.904+7G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101424932G>A | CA5161434 | ALDOB | c.910C>T (p.Arg304Trp) c.904+6C>T (n.904+6C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.101424932G>C | CA374264362 | ALDOB | c.910C>G (p.Arg304Gly) c.904+6C>G (n.904+6C>G) | gnomAD v4 |
| 9 | g.101424932G= | CA1868278582 | ALDOB | c.910C= (p.Arg304=) c.904+6C= (n.904+6C=) | |
| 9 | g.101424932G>T | CA466461901 | ALDOB | c.910C>A (p.Arg304=) c.904+6C>A (n.904+6C>A) | dbSNP |
| 9 | g.101424933T>A | CA466461902 | ALDOB | c.909A>T (p.Gly303=) c.904+5A>T (n.904+5A>T) | |
| 9 | g.101424933T>C | CA466461904 | ALDOB | c.909A>G (p.Gly303=) c.904+5A>G (n.904+5A>G) | |
| 9 | g.101424933T>G | CA466461903 | ALDOB | c.909A>C (p.Gly303=) c.904+5A>C (n.904+5A>C) | |
| 9 | g.101424934C>A | CA374264363 | ALDOB | c.908G>T (p.Gly303Val) c.904+4G>T (n.904+4G>T) | |
| 9 | g.101424934C>G | CA374264364 | ALDOB | c.908G>C (p.Gly303Ala) c.904+4G>C (n.904+4G>C) | |
| 9 | g.101424934C>T | CA374264365 | ALDOB | c.908G>A (p.Gly303Glu) c.904+4G>A (n.904+4G>A) | |
| 9 | g.101424935C>A | CA374264366 | ALDOB | c.907G>T (p.Gly303Ter) c.904+3G>T (n.904+3G>T) | |
| 9 | g.101424935C>G | CA374264367 | ALDOB | c.907G>C (p.Gly303Arg) c.904+3G>C (n.904+3G>C) | |
| 9 | g.101424935C>T | CA374264368 | ALDOB | c.907G>A (p.Gly303Arg) c.904+3G>A (n.904+3G>A) | |
| 9 | g.101424936A= | CA1868278588 | ALDOB | c.906T= (p.Tyr302=) c.904+2T= (n.904+2T=) | |
| 9 | g.101424936A>C | CA374264369 | ALDOB | c.906T>G (p.Tyr302Ter) c.904+2T>G (n.904+2T>G) | |
| 9 | g.101424936A>G | CA5161435 | ALDOB | c.906T>C (p.Tyr302=) c.904+2T>C (n.904+2T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101424936A>T | CA374264370 | ALDOB | c.906T>A (p.Tyr302Ter) c.904+2T>A (n.904+2T>A) | |
| 9 | g.101424937T>A | CA374264371 | ALDOB | c.905A>T (p.Tyr302Phe) c.904+1A>T (n.904+1A>T) | |
| 9 | g.101424937T>C | CA374264372 | ALDOB | c.905A>G (p.Tyr302Cys) c.904+1A>G (n.904+1A>G) | |
| 9 | g.101424937T>G | CA374264373 | ALDOB | c.905A>C (p.Tyr302Ser) c.904+1A>C (n.904+1A>C) | |
| 9 | g.101424938A>C | CA374264375 | ALDOB | c.904T>G (p.Tyr302Asp) c.904T>G (p.Trp302Gly) | |
| 9 | g.101424938A>G | CA374264376 | ALDOB | c.904T>C (p.Tyr302His) c.904T>C (p.Trp302Arg) | |
| 9 | g.101424938A>T | CA374264374 | ALDOB | c.904T>A (p.Tyr302Asn) c.904T>A (p.Trp302Arg) | |
| 9 | g.101424939A= | CA1868278593 | ALDOB | c.903T= (p.Ser301=) | |
| 9 | g.101424939A>C | CA466461905 | ALDOB | c.903T>G (p.Ser301=) | |
| 9 | g.101424939A>G | CA466461906 | ALDOB | c.903T>C (p.Ser301=) | |
| 9 | g.101424939A>T | CA466461907 | ALDOB | c.903T>A (p.Ser301=) | dbSNP |
| 9 | g.101424940G>A | CA374264377 | ALDOB | c.902C>T (p.Ser301Phe) | COSMIC |
| 9 | g.101424940G>C | CA374264378 | ALDOB | c.902C>G (p.Ser301Cys) | |
| 9 | g.101424940G>T | CA374264379 | ALDOB | c.902C>A (p.Ser301Tyr) | gnomAD v4 |
| 9 | g.101424941A>C | CA374264380 | ALDOB | c.901T>G (p.Ser301Ala) | |
| 9 | g.101424941A>G | CA374264381 | ALDOB | c.901T>C (p.Ser301Pro) | gnomAD v4 COSMIC |
| 9 | g.101424941A>T | CA374264382 | ALDOB | c.901T>A (p.Ser301Thr) | |
| 9 | g.101424942G>A | CA466461908 | ALDOB | c.900C>T (p.Phe300=) | dbSNP |
| 9 | g.101424942G>C | CA374264383 | ALDOB | c.900C>G (p.Phe300Leu) | |
| 9 | g.101424942G= | CA1868278596 | ALDOB | c.900C= (p.Phe300=) | |
| 9 | g.101424942G>T | CA374264384 | ALDOB | c.900C>A (p.Phe300Leu) | COSMIC |
| 9 | g.101424943A>C | CA374264385 | ALDOB | c.899T>G (p.Phe300Cys) | |
| 9 | g.101424943A>G | CA374264386 | ALDOB | c.899T>C (p.Phe300Ser) | |
| 9 | g.101424943A>T | CA374264387 | ALDOB | c.899T>A (p.Phe300Tyr) | |
| 9 | g.101424944A>C | CA374264388 | ALDOB | c.898T>G (p.Phe300Val) | |
| 9 | g.101424944A>G | CA374264389 | ALDOB | c.898T>C (p.Phe300Leu) | |
| 9 | g.101424944A>T | CA374264390 | ALDOB | c.898T>A (p.Phe300Ile) | |
| 9 | g.101424945A= | CA1868278600 | ALDOB | c.897T= (p.Ser299=) | |
| 9 | g.101424945A>C | CA374264391 | ALDOB | c.897T>G (p.Ser299Arg) | |
| 9 | g.101424945A>G | CA466461909 | ALDOB | c.897T>C (p.Ser299=) | dbSNP gnomAD v4 |