Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.122077749_122077763del | CA2580613646 | LOX | c.226_240del (p.Val76_Ala80del) | ClinVar |
5 | g.122077769_122077785dup | CA2580072455 | LOX | c.210_226dup (p.Val76GlyfsTer24) | ClinVar |
5 | g.122077769_122077785del | CA2674997213 | LOX | c.210_226del (p.Asp71ProfsTer?) | gnomAD v4 |
5 | g.122077761G>A | CA446220467 | LOX | c.225C>T (p.Ala75=) | gnomAD v4 COSMIC |
5 | g.122077761G>C | CA3384095 | LOX | c.225C>G (p.Ala75=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.122077761G= | CA1578380001 | LOX | c.225C= (p.Ala75=) | |
5 | g.122077761G>T | CA3384096 | LOX | c.225C>A (p.Ala75=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.122077762G>A | CA360877469 | LOX | c.224C>T (p.Ala75Val) | dbSNP gnomAD v4 |
5 | g.122077762G>C | CA360877474 | LOX | c.224C>G (p.Ala75Gly) | |
5 | g.122077762G= | CA1578380010 | LOX | c.224C= (p.Ala75=) | |
5 | g.122077762G>T | CA360877477 | LOX | c.224C>A (p.Ala75Asp) | dbSNP gnomAD v4 |
5 | g.122077763C>A | CA360877480 | LOX | c.223G>T (p.Ala75Ser) | gnomAD v4 |
5 | g.122077763C>G | CA360877481 | LOX | c.223G>C (p.Ala75Pro) | gnomAD v4 |
5 | g.122077763C>T | CA360877482 | LOX | c.223G>A (p.Ala75Thr) | gnomAD v4 |
5 | g.122077764G>A | CA446220473 | LOX | c.222C>T (p.Ala74=) | gnomAD v4 |
5 | g.122077764G>C | CA446220474 | LOX | c.222C>G (p.Ala74=) | |
5 | g.122077764G>T | CA446220475 | LOX | c.222C>A (p.Ala74=) | gnomAD v4 |
5 | g.122077765G>A | CA360877488 | LOX | c.221C>T (p.Ala74Val) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.122077765G>C | CA360877484 | LOX | c.221C>G (p.Ala74Gly) | |
5 | g.122077765G= | CA1578380015 | LOX | c.221C= (p.Ala74=) | |
5 | g.122077765G>T | CA360877485 | LOX | c.221C>A (p.Ala74Asp) | dbSNP gnomAD v4 |
5 | g.122077766C>A | CA360877490 | LOX | c.220G>T (p.Ala74Ser) | gnomAD v4 |
5 | g.122077766C= | CA1578380017 | LOX | c.220G= (p.Ala74=) | |
5 | g.122077766C>G | CA360877491 | LOX | c.220G>C (p.Ala74Pro) | |
5 | g.122077766C>T | CA360877494 | LOX | c.220G>A (p.Ala74Thr) | dbSNP gnomAD v4 |
5 | g.122077767G>A | CA446220482 | LOX | c.219C>T (p.Gly73=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.122077767G>C | CA446220480 | LOX | c.219C>G (p.Gly73=) | |
5 | g.122077767G= | CA1578380020 | LOX | c.219C= (p.Gly73=) | |
5 | g.122077767G>T | CA3384097 | LOX | c.219C>A (p.Gly73=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.122077768C>A | CA360877498 | LOX | c.218G>T (p.Gly73Val) | gnomAD v4 |
5 | g.122077768C= | CA1578380025 | LOX | c.218G= (p.Gly73=) | |
5 | g.122077768C>G | CA360877501 | LOX | c.218G>C (p.Gly73Ala) | gnomAD v4 |
5 | g.122077768C>T | CA3384098 | LOX | c.218G>A (p.Gly73Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.122077769C>A | CA360877506 | LOX | c.217G>T (p.Gly73Cys) | gnomAD v4 |
5 | g.122077769C= | CA1578380028 | LOX | c.217G= (p.Gly73=) | |
5 | g.122077769C>G | CA360877508 | LOX | c.217G>C (p.Gly73Arg) | |
5 | g.122077769C>T | CA360877515 | LOX | c.217G>A (p.Gly73Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.122077770C>A | CA446220487 | LOX | c.216G>T (p.Pro72=) | gnomAD v4 |
5 | g.122077770C= | CA1578380030 | LOX | c.216G= (p.Pro72=) | |
5 | g.122077770C>G | CA446220488 | LOX | c.216G>C (p.Pro72=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.122077770C>T | CA3384099 | LOX | c.216G>A (p.Pro72=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.122077771G>A | CA3384101 | LOX | c.215C>T (p.Pro72Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.122077771G>C | CA3384100 | LOX | c.215C>G (p.Pro72Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.122077771G= | CA1578380039 | LOX | c.215C= (p.Pro72=) | |
5 | g.122077771G>T | CA360877518 | LOX | c.215C>A (p.Pro72Gln) | gnomAD v4 |
5 | g.122077772G>A | CA360877522 | LOX | c.214C>T (p.Pro72Ser) | gnomAD v4 |
5 | g.122077772G>C | CA360877523 | LOX | c.214C>G (p.Pro72Ala) | gnomAD v4 |
5 | g.122077772G= | CA1578380041 | LOX | c.214C= (p.Pro72=) | |
5 | g.122077772G>T | CA360877524 | LOX | c.214C>A (p.Pro72Thr) | ClinVar dbSNP gnomAD v4 |
5 | g.122077773G>A | CA3384102 | LOX | c.213C>T (p.Asp71=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |