Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.101424989T>A | CA374264487 | ALDOB | c.853A>T (p.Asn285Tyr) | |
9 | g.101424989T>C | CA5161444 | ALDOB | c.853A>G (p.Asn285Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101424989T>G | CA5161443 | ALDOB | c.853A>C (p.Asn285His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101424989T= | CA1868278659 | ALDOB | c.853A= (p.Asn285=) | |
9 | g.101424990G>A | CA466461936 | ALDOB | c.852C>T (p.Leu284=) | COSMIC |
9 | g.101424990G>C | CA466461937 | ALDOB | c.852C>G (p.Leu284=) | |
9 | g.101424990G>T | CA466461938 | ALDOB | c.852C>A (p.Leu284=) | |
9 | g.101424991A>C | CA374264488 | ALDOB | c.851T>G (p.Leu284Arg) | |
9 | g.101424991A>G | CA374264489 | ALDOB | c.851T>C (p.Leu284Pro) | ClinVar dbSNP gnomAD v4 |
9 | g.101424991A>T | CA374264490 | ALDOB | c.851T>A (p.Leu284His) | COSMIC |
9 | g.101424992G>A | CA374264491 | ALDOB | c.850C>T (p.Leu284Phe) | gnomAD v4 |
9 | g.101424992G>C | CA374264493 | ALDOB | c.850C>G (p.Leu284Val) | |
9 | g.101424992G>T | CA374264492 | ALDOB | c.850C>A (p.Leu284Ile) | |
9 | g.101424993G>A | CA5161445 | ALDOB | c.849C>T (p.Asn283=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101424993G>C | CA374264494 | ALDOB | c.849C>G (p.Asn283Lys) | |
9 | g.101424993G= | CA1868278661 | ALDOB | c.849C= (p.Asn283=) | |
9 | g.101424993G>T | CA374264495 | ALDOB | c.849C>A (p.Asn283Lys) | |
9 | g.101424994T>A | CA374264496 | ALDOB | c.848A>T (p.Asn283Ile) | |
9 | g.101424994T>C | CA374264497 | ALDOB | c.848A>G (p.Asn283Ser) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.101424994T>G | CA374264498 | ALDOB | c.848A>C (p.Asn283Thr) | |
9 | g.101424994T= | CA1868278663 | ALDOB | c.848A= (p.Asn283=) | |
9 | g.101424995T>A | CA374264499 | ALDOB | c.847A>T (p.Asn283Tyr) | |
9 | g.101424995T>C | CA374264500 | ALDOB | c.847A>G (p.Asn283Asp) | gnomAD v4 |
9 | g.101424995T>G | CA374264501 | ALDOB | c.847A>C (p.Asn283His) | |
9 | g.101424996G>A | CA466461941 | ALDOB | c.846C>T (p.Leu282=) | dbSNP |
9 | g.101424996G>C | CA466461940 | ALDOB | c.846C>G (p.Leu282=) | |
9 | g.101424996G= | CA1868278665 | ALDOB | c.846C= (p.Leu282=) | |
9 | g.101424996G>T | CA466461939 | ALDOB | c.846C>A (p.Leu282=) | dbSNP |
9 | g.101424997A>C | CA374264502 | ALDOB | c.845T>G (p.Leu282Arg) | |
9 | g.101424997A>G | CA374264503 | ALDOB | c.845T>C (p.Leu282Pro) | |
9 | g.101424997A>T | CA374264504 | ALDOB | c.845T>A (p.Leu282His) | |
9 | g.101424998G>A | CA374264506 | ALDOB | c.844C>T (p.Leu282Phe) | |
9 | g.101424998G>C | CA374264507 | ALDOB | c.844C>G (p.Leu282Val) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.101424998G= | CA1868278667 | ALDOB | c.844C= (p.Leu282=) | |
9 | g.101424998G>T | CA374264505 | ALDOB | c.844C>A (p.Leu282Ile) | |
9 | g.101424999A= | CA1868278669 | ALDOB | c.843T= (p.Thr281=) | |
9 | g.101424999A>C | CA5161446 | ALDOB | c.843T>G (p.Thr281=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101424999A>G | CA196956624 | ALDOB | c.843T>C (p.Thr281=) | dbSNP |
9 | g.101424999A>T | CA466461942 | ALDOB | c.843T>A (p.Thr281=) | dbSNP |
9 | g.101425000G>A | CA374264510 | ALDOB | c.842C>T (p.Thr281Ile) | gnomAD v4 |
9 | g.101425000G>C | CA374264508 | ALDOB | c.842C>G (p.Thr281Ser) | |
9 | g.101425000G>T | CA374264509 | ALDOB | c.842C>A (p.Thr281Asn) | |
9 | g.101425001_101425002del | CA2499219514 | ALDOB | c.841_842del (p.Thr281SerfsTer?) | ClinVar dbSNP |
9 | g.101425001T>A | CA374264511 | ALDOB | c.841A>T (p.Thr281Ser) | |
9 | g.101425001T>C | CA374264512 | ALDOB | c.841A>G (p.Thr281Ala) | |
9 | g.101425001T>G | CA374264513 | ALDOB | c.841A>C (p.Thr281Pro) | |
9 | g.101425002G>A | CA196956625 | ALDOB | c.840C>T (p.Ala280=) | ClinVar dbSNP |
9 | g.101425002G>C | CA466461944 | ALDOB | c.840C>G (p.Ala280=) | |
9 | g.101425002G= | CA1868278672 | ALDOB | c.840C= (p.Ala280=) | |
9 | g.101425002G>T | CA466461943 | ALDOB | c.840C>A (p.Ala280=) |