| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.101426493_101432940del | CA129578 | ALDOB | c.-10-2043_624+62del | ClinVar |
| 9 | g.101428478_101428505del | CA2499219520 | ALDOB | c.345_372del (p.Leu116PhefsTer28) n.67+1306_67+1333del | ClinVar dbSNP |
| 9 | g.101428484_101428488delinsCTTTG | CA1868280505 | ALDOB | c.360_364delinsCAAAG (p.Asn120=) n.67+1321_67+1325delinsCAAAG | |
| 9 | g.101428485T>A | CA374265532 | ALDOB | c.363A>T (p.Lys121Asn) n.67+1324A>T | |
| 9 | g.101428485T>C | CA466462955 | ALDOB | c.363A>G (p.Lys121=) n.67+1324A>G | COSMIC |
| 9 | g.101428485T>G | CA374265533 | ALDOB | c.363A>C (p.Lys121Asn) n.67+1324A>C | |
| 9 | g.101428487dup | CA5161646 | ALDOB | c.363dup (p.Glu122ArgfsTer8) n.67+1324dup | dbSNP ExAC gnomAD v2 |
| 9 | g.101428491_101428494dup | CA1868280507 | ALDOB | c.360_363dup (p.Glu122GlnfsTer9) n.67+1321_67+1324dup | dbSNP |
| 9 | g.101428491_101428494del | CA114307 | ALDOB | c.360_363del (p.Asn120LysfsTer?) n.67+1321_67+1324del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.101428486T>A | CA374265534 | ALDOB | c.362A>T (p.Lys121Ile) n.67+1323A>T | |
| 9 | g.101428486T>C | CA374265535 | ALDOB | c.362A>G (p.Lys121Arg) n.67+1323A>G | |
| 9 | g.101428486T>G | CA374265536 | ALDOB | c.362A>C (p.Lys121Thr) n.67+1323A>C | |
| 9 | g.101428487T>A | CA374265537 | ALDOB | c.361A>T (p.Lys121Ter) n.67+1322A>T | |
| 9 | g.101428487T>C | CA374265539 | ALDOB | c.361A>G (p.Lys121Glu) n.67+1322A>G | gnomAD v4 |
| 9 | g.101428487T>G | CA374265538 | ALDOB | c.361A>C (p.Lys121Gln) n.67+1322A>C | |
| 9 | g.101428488del | CA2573143648 | ALDOB | c.360del (p.Asn120LysfsTer?) n.67+1321del | ClinVar dbSNP gnomAD v4 |
| 9 | g.101428488G>A | CA466462956 | ALDOB | c.360C>T (p.Asn120=) n.67+1321C>T | gnomAD v4 |
| 9 | g.101428488G>C | CA5161647 | ALDOB | c.360C>G (p.Asn120Lys) n.67+1321C>G | dbSNP ExAC gnomAD v2 |
| 9 | g.101428488G= | CA1868280509 | ALDOB | c.360C= (p.Asn120=) n.67+1321C= | |
| 9 | g.101428488G>T | CA374265540 | ALDOB | c.360C>A (p.Asn120Lys) n.67+1321C>A | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101428488_101428489delinsGT | CA1868280508 | ALDOB | c.359_360delinsAC (p.Asn120=) n.67+1320_67+1321delinsAC | |
| 9 | g.101428489T>A | CA374265541 | ALDOB | c.359A>T (p.Asn120Ile) n.67+1320A>T | |
| 9 | g.101428489T>C | CA374265542 | ALDOB | c.359A>G (p.Asn120Ser) n.67+1320A>G | |
| 9 | g.101428489T>G | CA374265543 | ALDOB | c.359A>C (p.Asn120Thr) n.67+1320A>C | |
| 9 | g.101428491del | CA857733751 | ALDOB | c.359del (p.Asn120ThrfsTer?) n.67+1320del | dbSNP gnomAD v4 |
| 9 | g.101428490T>A | CA374265544 | ALDOB | c.358A>T (p.Asn120Tyr) n.67+1319A>T | |
| 9 | g.101428490T>C | CA374265546 | ALDOB | c.358A>G (p.Asn120Asp) n.67+1319A>G | |
| 9 | g.101428490T>G | CA374265545 | ALDOB | c.358A>C (p.Asn120His) n.67+1319A>C | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101428490T= | CA1868280510 | ALDOB | c.358A= (p.Asn120=) n.67+1319A= | |
| 9 | g.101428491T>A | CA466462957 | ALDOB | c.357A>T (p.Thr119=) n.67+1318A>T | |
| 9 | g.101428491T>C | CA466462958 | ALDOB | c.357A>G (p.Thr119=) n.67+1318A>G | |
| 9 | g.101428491T>G | CA466462959 | ALDOB | c.357A>C (p.Thr119=) n.67+1318A>C | |
| 9 | g.101428492G>A | CA374265547 | ALDOB | c.356C>T (p.Thr119Ile) n.67+1317C>T | |
| 9 | g.101428492G>C | CA374265548 | ALDOB | c.356C>G (p.Thr119Arg) n.67+1317C>G | dbSNP |
| 9 | g.101428492G= | CA1868280511 | ALDOB | c.356C= (p.Thr119=) n.67+1317C= | |
| 9 | g.101428492G>T | CA374265549 | ALDOB | c.356C>A (p.Thr119Lys) n.67+1317C>A | |
| 9 | g.101428493T>A | CA374265550 | ALDOB | c.355A>T (p.Thr119Ser) n.67+1316A>T | |
| 9 | g.101428493T>C | CA374265551 | ALDOB | c.355A>G (p.Thr119Ala) n.67+1316A>G | |
| 9 | g.101428493T>G | CA374265552 | ALDOB | c.355A>C (p.Thr119Pro) n.67+1316A>C | |
| 9 | g.101428494T>A | CA466462960 | ALDOB | c.354A>T (p.Gly118=) n.67+1315A>T | |
| 9 | g.101428494T>C | CA466462961 | ALDOB | c.354A>G (p.Gly118=) n.67+1315A>G | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101428494T>G | CA466462962 | ALDOB | c.354A>C (p.Gly118=) n.67+1315A>C | |
| 9 | g.101428494T= | CA1868280512 | ALDOB | c.354A= (p.Gly118=) n.67+1315A= | |
| 9 | g.101428495C>A | CA374265553 | ALDOB | c.353G>T (p.Gly118Val) n.67+1314G>T | |
| 9 | g.101428495C= | CA1868280513 | ALDOB | c.353G= (p.Gly118=) n.67+1314G= | |
| 9 | g.101428495C>G | CA374265554 | ALDOB | c.353G>C (p.Gly118Ala) n.67+1314G>C | dbSNP |
| 9 | g.101428495C>T | CA374265555 | ALDOB | c.353G>A (p.Gly118Glu) n.67+1314G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.101428496C>A | CA374265556 | ALDOB | c.352G>T (p.Gly118Ter) n.67+1313G>T | |
| 9 | g.101428496C= | CA1868280514 | ALDOB | c.352G= (p.Gly118=) n.67+1313G= | |
| 9 | g.101428496C>G | CA374265557 | ALDOB | c.352G>C (p.Gly118Arg) n.67+1313G>C |