Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.69350124A>C | CA385725606 | LYZ | c.153A>C (p.Lys51Asn) | |
12 | g.69350124A>G | CA480442663 | LYZ | c.153A>G (p.Lys51=) | gnomAD v4 |
12 | g.69350124A>T | CA385725608 | LYZ | c.153A>T (p.Lys51Asn) | |
12 | g.69350125T>A | CA385725611 | LYZ | c.154T>A (p.Trp52Arg) | |
12 | g.69350125T>C | CA385725613 | LYZ | c.154T>C (p.Trp52Arg) | |
12 | g.69350125T>G | CA385725614 | LYZ | c.154T>G (p.Trp52Gly) | |
12 | g.69350126G>A | CA385725623 | LYZ | c.155G>A (p.Trp52Ter) | |
12 | g.69350126G>C | CA385725626 | LYZ | c.155G>C (p.Trp52Ser) | gnomAD v4 |
12 | g.69350126G>T | CA385725621 | LYZ | c.155G>T (p.Trp52Leu) | |
12 | g.69350128del | CA2619793929 | LYZ | c.157del (p.Glu53ArgfsTer?) | gnomAD v4 |
12 | g.69350127G>A | CA6679730 | LYZ | c.156G>A (p.Trp52Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.69350127G>C | CA385725631 | LYZ | c.156G>C (p.Trp52Cys) | dbSNP |
12 | g.69350127G= | CA2044298670 | LYZ | c.156G= (p.Trp52=) | |
12 | g.69350127G>T | CA385725632 | LYZ | c.156G>T (p.Trp52Cys) | |
12 | g.69350128G>A | CA385725637 | LYZ | c.157G>A (p.Glu53Lys) | gnomAD v4 COSMIC |
12 | g.69350128G>C | CA385725639 | LYZ | c.157G>C (p.Glu53Gln) | |
12 | g.69350128G>T | CA385725642 | LYZ | c.157G>T (p.Glu53Ter) | gnomAD v4 |
12 | g.69350131_69350132del | CA2619793930 | LYZ | c.160_161del (p.Ser54TrpfsTer17) | gnomAD v4 |
12 | g.69350129A>C | CA385725653 | LYZ | c.158A>C (p.Glu53Ala) | |
12 | g.69350129A>G | CA385725647 | LYZ | c.158A>G (p.Glu53Gly) | |
12 | g.69350129A>T | CA385725649 | LYZ | c.158A>T (p.Glu53Val) | |
12 | g.69350130G>A | CA238505258 | LYZ | c.159G>A (p.Glu53=) | dbSNP |
12 | g.69350130G>C | CA385725657 | LYZ | c.159G>C (p.Glu53Asp) | |
12 | g.69350130G= | CA2044298671 | LYZ | c.159G= (p.Glu53=) | |
12 | g.69350130G>T | CA6679731 | LYZ | c.159G>T (p.Glu53Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.69350131A>C | CA385725661 | LYZ | c.160A>C (p.Ser54Arg) | |
12 | g.69350131A>G | CA385725664 | LYZ | c.160A>G (p.Ser54Gly) | |
12 | g.69350131A>T | CA385725667 | LYZ | c.160A>T (p.Ser54Cys) | |
12 | g.69350132G>A | CA385725671 | LYZ | c.161G>A (p.Ser54Asn) | |
12 | g.69350132G>C | CA385725677 | LYZ | c.161G>C (p.Ser54Thr) | |
12 | g.69350132G= | CA2044298672 | LYZ | c.161G= (p.Ser54=) | |
12 | g.69350132G>T | CA385725674 | LYZ | c.161G>T (p.Ser54Ile) | |
12 | g.69350133T>A | CA385725679 | LYZ | c.162T>A (p.Ser54Arg) | |
12 | g.69350133T>C | CA480442664 | LYZ | c.162T>C (p.Ser54=) | |
12 | g.69350133T>G | CA385725681 | LYZ | c.162T>G (p.Ser54Arg) | COSMIC |
12 | g.69350134_69350137dup | CA2044298673 | LYZ | c.163_166dup (p.Tyr56TrpfsTer17) | dbSNP |
12 | g.69350134G>A | CA385725685 | LYZ | c.163G>A (p.Gly55Ser) | gnomAD v4 |
12 | g.69350134G>C | CA385725688 | LYZ | c.163G>C (p.Gly55Arg) | |
12 | g.69350134G>T | CA385725691 | LYZ | c.163G>T (p.Gly55Cys) | |
12 | g.69350135del | CA2619793931 | LYZ | c.164del (p.Gly55ValfsTer?) | gnomAD v4 |
12 | g.69350135G>A | CA385725696 | LYZ | c.164G>A (p.Gly55Asp) | |
12 | g.69350135G>C | CA385725698 | LYZ | c.164G>C (p.Gly55Ala) | |
12 | g.69350135G>T | CA385725700 | LYZ | c.164G>T (p.Gly55Val) | |
12 | g.69350136T>A | CA480442667 | LYZ | c.165T>A (p.Gly55=) | |
12 | g.69350136T>C | CA480442666 | LYZ | c.165T>C (p.Gly55=) | |
12 | g.69350136T>G | CA480442665 | LYZ | c.165T>G (p.Gly55=) | |
12 | g.69350137del | CA645594630 | LYZ | c.166del (p.Tyr56ThrfsTer?) | COSMIC |
12 | g.69350137T>A | CA385725702 | LYZ | c.166T>A (p.Tyr56Asn) | |
12 | g.69350137T>C | CA385725704 | LYZ | c.166T>C (p.Tyr56His) | |
12 | g.69350137T>G | CA385725705 | LYZ | c.166T>G (p.Tyr56Asp) |