Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.101424974_101424977delinsAAAG | CA1868278642 | ALDOB | c.865_868delinsCTTT (p.Leu289=) | |
9 | g.101424975A>C | CA466461928 | ALDOB | c.867T>G (p.Leu289=) | |
9 | g.101424975A>G | CA466461929 | ALDOB | c.867T>C (p.Leu289=) | |
9 | g.101424975A>T | CA466461927 | ALDOB | c.867T>A (p.Leu289=) | |
9 | g.101424975_101424977del | CA114305 | ALDOB | c.865_867del (p.Leu289del) | ClinVar dbSNP |
9 | g.101424976A= | CA1868278647 | ALDOB | c.866T= (p.Leu289=) | |
9 | g.101424976A>C | CA374264456 | ALDOB | c.866T>G (p.Leu289Arg) | dbSNP |
9 | g.101424976A>G | CA374264457 | ALDOB | c.866T>C (p.Leu289Pro) | |
9 | g.101424976A>T | CA374264458 | ALDOB | c.866T>A (p.Leu289His) | |
9 | g.101424976_101424977delinsAG | CA1868278646 | ALDOB | c.865_866delinsCT (p.Leu289=) | |
9 | g.101424977G>A | CA5161441 | ALDOB | c.865C>T (p.Leu289Phe) | dbSNP ExAC gnomAD v2 |
9 | g.101424977G>C | CA374264459 | ALDOB | c.865C>G (p.Leu289Val) | |
9 | g.101424977G= | CA1868278650 | ALDOB | c.865C= (p.Leu289=) | |
9 | g.101424977G>T | CA374264460 | ALDOB | c.865C>A (p.Leu289Ile) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.101424978del | CA347831 | ALDOB | c.865del (p.Leu289PhefsTer10) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101424978G>A | CA5161442 | ALDOB | c.864C>T (p.Asn288=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101424978G>C | CA374264461 | ALDOB | c.864C>G (p.Asn288Lys) | gnomAD v4 |
9 | g.101424978G= | CA1868278652 | ALDOB | c.864C= (p.Asn288=) | |
9 | g.101424978G>T | CA374264462 | ALDOB | c.864C>A (p.Asn288Lys) | dbSNP gnomAD v4 |
9 | g.101424979T>A | CA374264463 | ALDOB | c.863A>T (p.Asn288Ile) | |
9 | g.101424979T>C | CA374264465 | ALDOB | c.863A>G (p.Asn288Ser) | |
9 | g.101424979T>G | CA374264464 | ALDOB | c.863A>C (p.Asn288Thr) | |
9 | g.101424980dup | CA2691006785 | ALDOB | c.863dup (p.Asn288LysfsTer?) | gnomAD v4 |
9 | g.101424980T>A | CA374264466 | ALDOB | c.862A>T (p.Asn288Tyr) | |
9 | g.101424980T>C | CA374264467 | ALDOB | c.862A>G (p.Asn288Asp) | |
9 | g.101424980T>G | CA374264468 | ALDOB | c.862A>C (p.Asn288His) | |
9 | g.101424981G>A | CA466461930 | ALDOB | c.861C>T (p.Ile287=) | |
9 | g.101424981G>C | CA374264469 | ALDOB | c.861C>G (p.Ile287Met) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.101424981G= | CA1868278654 | ALDOB | c.861C= (p.Ile287=) | |
9 | g.101424981G>T | CA466461931 | ALDOB | c.861C>A (p.Ile287=) | |
9 | g.101424982A>C | CA374264470 | ALDOB | c.860T>G (p.Ile287Ser) | |
9 | g.101424982A>G | CA374264471 | ALDOB | c.860T>C (p.Ile287Thr) | |
9 | g.101424982A>T | CA374264472 | ALDOB | c.860T>A (p.Ile287Asn) | gnomAD v4 |
9 | g.101424983T>A | CA374264473 | ALDOB | c.859A>T (p.Ile287Phe) | |
9 | g.101424983T>C | CA374264474 | ALDOB | c.859A>G (p.Ile287Val) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.101424983T>G | CA374264475 | ALDOB | c.859A>C (p.Ile287Leu) | gnomAD v4 |
9 | g.101424983T= | CA1868278656 | ALDOB | c.859A= (p.Ile287=) | |
9 | g.101424984A>C | CA466461932 | ALDOB | c.858T>G (p.Ala286=) | |
9 | g.101424984A>G | CA466461933 | ALDOB | c.858T>C (p.Ala286=) | |
9 | g.101424984A>T | CA466461934 | ALDOB | c.858T>A (p.Ala286=) | |
9 | g.101424985G>A | CA374264477 | ALDOB | c.857C>T (p.Ala286Val) | gnomAD v4 |
9 | g.101424985G>C | CA374264478 | ALDOB | c.857C>G (p.Ala286Gly) | |
9 | g.101424985G>T | CA374264476 | ALDOB | c.857C>A (p.Ala286Asp) | |
9 | g.101424986C>A | CA374264479 | ALDOB | c.856G>T (p.Ala286Ser) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.101424986C= | CA1868278657 | ALDOB | c.856G= (p.Ala286=) | |
9 | g.101424986C>G | CA374264480 | ALDOB | c.856G>C (p.Ala286Pro) | |
9 | g.101424986C>T | CA374264481 | ALDOB | c.856G>A (p.Ala286Thr) | dbSNP |
9 | g.101424987A>C | CA374264482 | ALDOB | c.855T>G (p.Asn285Lys) | |
9 | g.101424987A>G | CA466461935 | ALDOB | c.855T>C (p.Asn285=) | ClinVar gnomAD v4 |
9 | g.101424987A>T | CA374264483 | ALDOB | c.855T>A (p.Asn285Lys) |