Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.8075600C>A | CA397988317 | ALOX12B | c.1649G>T (p.Ser550Ile) c.713G>T (p.Ser238Ile) n.479+575G>T | dbSNP |
17 | g.8075600C= | CA2246125487 | ALOX12B | c.1649G= (p.Ser550=) c.713G= (p.Ser238=) n.479+575G= | |
17 | g.8075600C>G | CA397988326 | ALOX12B | c.1649G>C (p.Ser550Thr) c.713G>C (p.Ser238Thr) n.479+575G>C | |
17 | g.8075600C>T | CA397988328 | ALOX12B | c.1649G>A (p.Ser550Asn) c.713G>A (p.Ser238Asn) n.479+575G>A | gnomAD v4 |
17 | g.8075601T>A | CA397988334 | ALOX12B | c.1648A>T (p.Ser550Cys) c.712A>T (p.Ser238Cys) n.479+574A>T | |
17 | g.8075601T>C | CA287540189 | ALOX12B | c.1648A>G (p.Ser550Gly) c.712A>G (p.Ser238Gly) n.479+574A>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.8075601T>G | CA397988331 | ALOX12B | c.1648A>C (p.Ser550Arg) c.712A>C (p.Ser238Arg) n.479+574A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8075601T= | CA2246125491 | ALOX12B | c.1648A= (p.Ser550=) c.712A= (p.Ser238=) n.479+574A= | |
17 | g.8075602C>A | CA397988336 | ALOX12B | c.1647G>T (p.Glu549Asp) c.711G>T (p.Glu237Asp) n.479+573G>T | |
17 | g.8075602C= | CA2246125494 | ALOX12B | c.1647G= (p.Glu549=) c.711G= (p.Glu237=) n.479+573G= | |
17 | g.8075602C>G | CA397988339 | ALOX12B | c.1647G>C (p.Glu549Asp) c.711G>C (p.Glu237Asp) n.479+573G>C | |
17 | g.8075602C>T | CA497757453 | ALOX12B | c.1647G>A (p.Glu549=) c.711G>A (p.Glu237=) n.479+573G>A | dbSNP gnomAD v4 |
17 | g.8075603T>A | CA397988341 | ALOX12B | c.1646A>T (p.Glu549Val) c.710A>T (p.Glu237Val) n.479+572A>T | |
17 | g.8075603T>C | CA397988343 | ALOX12B | c.1646A>G (p.Glu549Gly) c.710A>G (p.Glu237Gly) n.479+572A>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.8075603T>G | CA397988346 | ALOX12B | c.1646A>C (p.Glu549Ala) c.710A>C (p.Glu237Ala) n.479+572A>C | |
17 | g.8075603T= | CA2246125499 | ALOX12B | c.1646A= (p.Glu549=) c.710A= (p.Glu237=) n.479+572A= | |
17 | g.8075604C>A | CA397988350 | ALOX12B | c.1645G>T (p.Glu549Ter) c.709G>T (p.Glu237Ter) n.479+571G>T | |
17 | g.8075604C>G | CA397988353 | ALOX12B | c.1645G>C (p.Glu549Gln) c.709G>C (p.Glu237Gln) n.479+571G>C | |
17 | g.8075604C>T | CA397988356 | ALOX12B | c.1645G>A (p.Glu549Lys) c.709G>A (p.Glu237Lys) n.479+571G>A | |
17 | g.8075605C>A | CA497757463 | ALOX12B | c.1644G>T (p.Arg548=) c.708G>T (p.Arg236=) n.479+570G>T | |
17 | g.8075605C>G | CA497757465 | ALOX12B | c.1644G>C (p.Arg548=) c.708G>C (p.Arg236=) n.479+570G>C | |
17 | g.8075605C>T | CA497757467 | ALOX12B | c.1644G>A (p.Arg548=) c.708G>A (p.Arg236=) n.479+570G>A | |
17 | g.8075606C>A | CA397988358 | ALOX12B | c.1643G>T (p.Arg548Leu) c.707G>T (p.Arg236Leu) n.479+569G>T | |
17 | g.8075606C= | CA2246125509 | ALOX12B | c.1643G= (p.Arg548=) c.707G= (p.Arg236=) n.479+569G= | |
17 | g.8075606C>G | CA397988361 | ALOX12B | c.1643G>C (p.Arg548Pro) c.707G>C (p.Arg236Pro) n.479+569G>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.8075606C>T | CA8367241 | ALOX12B | c.1643G>A (p.Arg548Gln) c.707G>A (p.Arg236Gln) n.479+569G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8075607G>A | CA261171 | ALOX12B | c.1642C>T (p.Arg548Trp) c.706C>T (p.Arg236Trp) n.479+568C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.8075607G>C | CA397988368 | ALOX12B | c.1642C>G (p.Arg548Gly) c.706C>G (p.Arg236Gly) n.479+568C>G | |
17 | g.8075607G= | CA2246125520 | ALOX12B | c.1642C= (p.Arg548=) c.706C= (p.Arg236=) n.479+568C= | |
17 | g.8075607G>T | CA497757475 | ALOX12B | c.1642C>A (p.Arg548=) c.706C>A (p.Arg236=) n.479+568C>A | |
17 | g.8075608C>A | CA497757477 | ALOX12B | c.1641G>T (p.Gly547=) c.705G>T (p.Gly235=) n.479+567G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8075608C= | CA2246125525 | ALOX12B | c.1641G= (p.Gly547=) c.705G= (p.Gly235=) n.479+567G= | |
17 | g.8075608C>G | CA497757479 | ALOX12B | c.1641G>C (p.Gly547=) c.705G>C (p.Gly235=) n.479+567G>C | |
17 | g.8075608C>T | CA8367242 | ALOX12B | c.1641G>A (p.Gly547=) c.705G>A (p.Gly235=) n.479+567G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8075609C>A | CA397988377 | ALOX12B | c.1640G>T (p.Gly547Val) c.704G>T (p.Gly235Val) n.479+566G>T | gnomAD v4 |
17 | g.8075609C>G | CA397988373 | ALOX12B | c.1640G>C (p.Gly547Ala) c.704G>C (p.Gly235Ala) n.479+566G>C | |
17 | g.8075609C>T | CA397988375 | ALOX12B | c.1640G>A (p.Gly547Glu) c.704G>A (p.Gly235Glu) n.479+566G>A | gnomAD v4 |
17 | g.8075610C>A | CA397988382 | ALOX12B | c.1639G>T (p.Gly547Trp) c.703G>T (p.Gly235Trp) n.479+565G>T | |
17 | g.8075610C= | CA2246125533 | ALOX12B | c.1639G= (p.Gly547=) c.703G= (p.Gly235=) n.479+565G= | |
17 | g.8075610C>G | CA397988385 | ALOX12B | c.1639G>C (p.Gly547Arg) c.703G>C (p.Gly235Arg) n.479+565G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8075610C>T | CA287540246 | ALOX12B | c.1639G>A (p.Gly547Arg) c.703G>A (p.Gly235Arg) n.479+565G>A | dbSNP gnomAD v4 |
17 | g.8075611C>A | CA497757492 | ALOX12B | c.1638G>T (p.Leu546=) c.702G>T (p.Leu234=) n.479+564G>T | |
17 | g.8075611C= | CA2246125538 | ALOX12B | c.1638G= (p.Leu546=) c.702G= (p.Leu234=) n.479+564G= | |
17 | g.8075611C>G | CA497757489 | ALOX12B | c.1638G>C (p.Leu546=) c.702G>C (p.Leu234=) n.479+564G>C | |
17 | g.8075611C>T | CA8367243 | ALOX12B | c.1638G>A (p.Leu546=) c.702G>A (p.Leu234=) n.479+564G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8075612A>C | CA397989526 | ALOX12B | c.1637T>G (p.Leu546Arg) c.701T>G (p.Leu234Arg) n.479+563T>G | |
17 | g.8075612A>G | CA397989530 | ALOX12B | c.1637T>C (p.Leu546Pro) c.701T>C (p.Leu234Pro) n.479+563T>C | |
17 | g.8075612A>T | CA397989534 | ALOX12B | c.1637T>A (p.Leu546Gln) c.701T>A (p.Leu234Gln) n.479+563T>A | |
17 | g.8075613G>A | CA497757855 | ALOX12B | c.1636C>T (p.Leu546=) c.700C>T (p.Leu234=) n.479+562C>T | |
17 | g.8075613G>C | CA397989539 | ALOX12B | c.1636C>G (p.Leu546Val) c.700C>G (p.Leu234Val) n.479+562C>G |