Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.46572140C>A | CA402376445 | LOXHD1 | c.1993G>T (p.Asp665Tyr) n.1306G>T c.154G>T (p.Asp52Tyr) c.475G>T (p.Asp159Tyr) | |
18 | g.46572140C>G | CA402376446 | LOXHD1 | c.1993G>C (p.Asp665His) n.1306G>C c.154G>C (p.Asp52His) c.475G>C (p.Asp159His) | |
18 | g.46572140C>T | CA402376448 | LOXHD1 | c.1993G>A (p.Asp665Asn) n.1306G>A c.154G>A (p.Asp52Asn) c.475G>A (p.Asp159Asn) | |
18 | g.46572141A= | CA2300894589 | LOXHD1 | c.1992T= (p.Asp664=) n.1305T= c.153T= (p.Asp51=) c.474T= (p.Asp158=) | |
18 | g.46572141A>C | CA402376450 | LOXHD1 | c.1992T>G (p.Asp664Glu) n.1305T>G c.153T>G (p.Asp51Glu) c.474T>G (p.Asp158Glu) | |
18 | g.46572141A>G | CA503815470 | LOXHD1 | c.1992T>C (p.Asp664=) n.1305T>C c.153T>C (p.Asp51=) c.474T>C (p.Asp158=) | ClinVar dbSNP |
18 | g.46572141A>T | CA402376452 | LOXHD1 | c.1992T>A (p.Asp664Glu) n.1305T>A c.153T>A (p.Asp51Glu) c.474T>A (p.Asp158Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.46572142T>A | CA402376455 | LOXHD1 | c.1991A>T (p.Asp664Val) n.1304A>T c.152A>T (p.Asp51Val) c.473A>T (p.Asp158Val) | |
18 | g.46572142T>C | CA402376456 | LOXHD1 | c.1991A>G (p.Asp664Gly) n.1304A>G c.152A>G (p.Asp51Gly) c.473A>G (p.Asp158Gly) | dbSNP gnomAD v4 |
18 | g.46572142T>G | CA402376458 | LOXHD1 | c.1991A>C (p.Asp664Ala) n.1304A>C c.152A>C (p.Asp51Ala) c.473A>C (p.Asp158Ala) | gnomAD v4 |
18 | g.46572142T= | CA2300894590 | LOXHD1 | c.1991A= (p.Asp664=) n.1304A= c.152A= (p.Asp51=) c.473A= (p.Asp158=) | |
18 | g.46572143C>A | CA402376463 | LOXHD1 | c.1990G>T (p.Asp664Tyr) n.1303G>T c.151G>T (p.Asp51Tyr) c.472G>T (p.Asp158Tyr) | |
18 | g.46572143C= | CA2300894591 | LOXHD1 | c.1990G= (p.Asp664=) n.1303G= c.151G= (p.Asp51=) c.472G= (p.Asp158=) | |
18 | g.46572143C>G | CA402376462 | LOXHD1 | c.1990G>C (p.Asp664His) n.1303G>C c.151G>C (p.Asp51His) c.472G>C (p.Asp158His) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.46572143C>T | CA402376460 | LOXHD1 | c.1990G>A (p.Asp664Asn) n.1303G>A c.151G>A (p.Asp51Asn) c.472G>A (p.Asp158Asn) | |
18 | g.46572144C>A | CA402376466 | LOXHD1 | c.1989G>T (p.Lys663Asn) n.1302G>T c.150G>T (p.Lys50Asn) c.471G>T (p.Lys157Asn) | |
18 | g.46572144C= | CA2300894592 | LOXHD1 | c.1989G= (p.Lys663=) n.1302G= c.150G= (p.Lys50=) c.471G= (p.Lys157=) | |
18 | g.46572144C>G | CA402376467 | LOXHD1 | c.1989G>C (p.Lys663Asn) n.1302G>C c.150G>C (p.Lys50Asn) c.471G>C (p.Lys157Asn) | |
18 | g.46572144C>T | CA503815472 | LOXHD1 | c.1989G>A (p.Lys663=) n.1302G>A c.150G>A (p.Lys50=) c.471G>A (p.Lys157=) | ClinVar dbSNP gnomAD v4 |
18 | g.46572145T>A | CA402376469 | LOXHD1 | c.1988A>T (p.Lys663Met) n.1301A>T c.149A>T (p.Lys50Met) c.470A>T (p.Lys157Met) | gnomAD v4 |
18 | g.46572145T>C | CA402376471 | LOXHD1 | c.1988A>G (p.Lys663Arg) n.1301A>G c.149A>G (p.Lys50Arg) c.470A>G (p.Lys157Arg) | dbSNP |
18 | g.46572145T>G | CA402376473 | LOXHD1 | c.1988A>C (p.Lys663Thr) n.1301A>C c.149A>C (p.Lys50Thr) c.470A>C (p.Lys157Thr) | |
18 | g.46572145T= | CA2300894593 | LOXHD1 | c.1988A= (p.Lys663=) n.1301A= c.149A= (p.Lys50=) c.470A= (p.Lys157=) | |
18 | g.46572146T>A | CA402376474 | LOXHD1 | c.1987A>T (p.Lys663Ter) n.1300A>T c.148A>T (p.Lys50Ter) c.469A>T (p.Lys157Ter) | |
18 | g.46572146T>C | CA402376476 | LOXHD1 | c.1987A>G (p.Lys663Glu) n.1300A>G c.148A>G (p.Lys50Glu) c.469A>G (p.Lys157Glu) | gnomAD v4 |
18 | g.46572146T>G | CA402376478 | LOXHD1 | c.1987A>C (p.Lys663Gln) n.1300A>C c.148A>C (p.Lys50Gln) c.469A>C (p.Lys157Gln) | |
18 | g.46572147A= | CA2300894594 | LOXHD1 | c.1986T= (p.Asp662=) n.1299T= c.147T= (p.Asp49=) c.468T= (p.Asp156=) | |
18 | g.46572147A>C | CA402376480 | LOXHD1 | c.1986T>G (p.Asp662Glu) n.1299T>G c.147T>G (p.Asp49Glu) c.468T>G (p.Asp156Glu) | |
18 | g.46572147A>G | CA503815475 | LOXHD1 | c.1986T>C (p.Asp662=) n.1299T>C c.147T>C (p.Asp49=) c.468T>C (p.Asp156=) | ClinVar dbSNP gnomAD v4 |
18 | g.46572147A>T | CA402376481 | LOXHD1 | c.1986T>A (p.Asp662Glu) n.1299T>A c.147T>A (p.Asp49Glu) c.468T>A (p.Asp156Glu) | |
18 | g.46572148T>A | CA402376483 | LOXHD1 | c.1985A>T (p.Asp662Val) n.1298A>T c.146A>T (p.Asp49Val) c.467A>T (p.Asp156Val) | gnomAD v4 |
18 | g.46572148T>C | CA402376484 | LOXHD1 | c.1985A>G (p.Asp662Gly) n.1298A>G c.146A>G (p.Asp49Gly) c.467A>G (p.Asp156Gly) | gnomAD v4 |
18 | g.46572148T>G | CA402376486 | LOXHD1 | c.1985A>C (p.Asp662Ala) n.1298A>C c.146A>C (p.Asp49Ala) c.467A>C (p.Asp156Ala) | |
18 | g.46572149C>A | CA402376491 | LOXHD1 | c.1984G>T (p.Asp662Tyr) n.1297G>T c.145G>T (p.Asp49Tyr) c.466G>T (p.Asp156Tyr) | |
18 | g.46572149C>G | CA402376492 | LOXHD1 | c.1984G>C (p.Asp662His) n.1297G>C c.145G>C (p.Asp49His) c.466G>C (p.Asp156His) | |
18 | g.46572149C>T | CA402376489 | LOXHD1 | c.1984G>A (p.Asp662Asn) n.1297G>A c.145G>A (p.Asp49Asn) c.466G>A (p.Asp156Asn) | |
18 | g.46572150C>A | CA402376495 | LOXHD1 | c.1983G>T (p.Lys661Asn) n.1296G>T c.144G>T (p.Lys48Asn) c.465G>T (p.Lys155Asn) | |
18 | g.46572150C= | CA2300894595 | LOXHD1 | c.1983G= (p.Lys661=) n.1296G= c.144G= (p.Lys48=) c.465G= (p.Lys155=) | |
18 | g.46572150C>G | CA402376496 | LOXHD1 | c.1983G>C (p.Lys661Asn) n.1296G>C c.144G>C (p.Lys48Asn) c.465G>C (p.Lys155Asn) | |
18 | g.46572150C>T | CA503815477 | LOXHD1 | c.1983G>A (p.Lys661=) n.1296G>A c.144G>A (p.Lys48=) c.465G>A (p.Lys155=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.46572151T>A | CA402376497 | LOXHD1 | c.1982A>T (p.Lys661Met) n.1295A>T c.143A>T (p.Lys48Met) c.464A>T (p.Lys155Met) | |
18 | g.46572151T>C | CA402376499 | LOXHD1 | c.1982A>G (p.Lys661Arg) n.1295A>G c.143A>G (p.Lys48Arg) c.464A>G (p.Lys155Arg) | |
18 | g.46572151T>G | CA402376500 | LOXHD1 | c.1982A>C (p.Lys661Thr) n.1295A>C c.143A>C (p.Lys48Thr) c.464A>C (p.Lys155Thr) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.46572151T= | CA2300894596 | LOXHD1 | c.1982A= (p.Lys661=) n.1295A= c.143A= (p.Lys48=) c.464A= (p.Lys155=) | |
18 | g.46572152T>A | CA402376501 | LOXHD1 | c.1981A>T (p.Lys661Ter) n.1294A>T c.142A>T (p.Lys48Ter) c.463A>T (p.Lys155Ter) | |
18 | g.46572152T>C | CA402376503 | LOXHD1 | c.1981A>G (p.Lys661Glu) n.1294A>G c.142A>G (p.Lys48Glu) c.463A>G (p.Lys155Glu) | |
18 | g.46572152T>G | CA402376505 | LOXHD1 | c.1981A>C (p.Lys661Gln) n.1294A>C c.142A>C (p.Lys48Gln) c.463A>C (p.Lys155Gln) | |
18 | g.46572153G>A | CA503815480 | LOXHD1 | c.1980C>T (p.Asp660=) n.1293C>T c.141C>T (p.Asp47=) c.462C>T (p.Asp154=) | |
18 | g.46572153G>C | CA402376506 | LOXHD1 | c.1980C>G (p.Asp660Glu) n.1293C>G c.141C>G (p.Asp47Glu) c.462C>G (p.Asp154Glu) | |
18 | g.46572153G= | CA2300894597 | LOXHD1 | c.1980C= (p.Asp660=) n.1293C= c.141C= (p.Asp47=) c.462C= (p.Asp154=) |