Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.69420011_69420014del | CA2674131316 | MARVELD2 | c.626_629del (p.Ala209ValfsTer?) | gnomAD v4 |
5 | g.69420013T>A | CA359923975 | MARVELD2 | c.628T>A (p.Cys210Ser) | |
5 | g.69420013T>C | CA359923978 | MARVELD2 | c.628T>C (p.Cys210Arg) | |
5 | g.69420013T>G | CA359923979 | MARVELD2 | c.628T>G (p.Cys210Gly) | |
5 | g.69420014G>A | CA3294085 | MARVELD2 | c.629G>A (p.Cys210Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69420014G>C | CA359923984 | MARVELD2 | c.629G>C (p.Cys210Ser) | dbSNP |
5 | g.69420014G= | CA1553916774 | MARVELD2 | c.629G= (p.Cys210=) | |
5 | g.69420014G>T | CA359923986 | MARVELD2 | c.629G>T (p.Cys210Phe) | |
5 | g.69420015T>A | CA359923988 | MARVELD2 | c.630T>A (p.Cys210Ter) | gnomAD v4 |
5 | g.69420015T>C | CA445083659 | MARVELD2 | c.630T>C (p.Cys210=) | |
5 | g.69420015T>G | CA359923990 | MARVELD2 | c.630T>G (p.Cys210Trp) | |
5 | g.69420016G>A | CA359923995 | MARVELD2 | c.631G>A (p.Val211Ile) | |
5 | g.69420016G>C | CA359923993 | MARVELD2 | c.631G>C (p.Val211Leu) | |
5 | g.69420016G>T | CA359923991 | MARVELD2 | c.631G>T (p.Val211Phe) | |
5 | g.69420017T>A | CA359923997 | MARVELD2 | c.632T>A (p.Val211Asp) | |
5 | g.69420017T>C | CA359923999 | MARVELD2 | c.632T>C (p.Val211Ala) | gnomAD v4 |
5 | g.69420017T>G | CA359924001 | MARVELD2 | c.632T>G (p.Val211Gly) | |
5 | g.69420018C>A | CA445083665 | MARVELD2 | c.633C>A (p.Val211=) | dbSNP |
5 | g.69420018C= | CA1553916777 | MARVELD2 | c.633C= (p.Val211=) | |
5 | g.69420018C>G | CA445083666 | MARVELD2 | c.633C>G (p.Val211=) | |
5 | g.69420018C>T | CA445083663 | MARVELD2 | c.633C>T (p.Val211=) | |
5 | g.69420019A>C | CA359924003 | MARVELD2 | c.634A>C (p.Thr212Pro) | |
5 | g.69420019A>G | CA359924005 | MARVELD2 | c.634A>G (p.Thr212Ala) | gnomAD v4 |
5 | g.69420019A>T | CA359924007 | MARVELD2 | c.634A>T (p.Thr212Ser) | |
5 | g.69420020C>A | CA359924009 | MARVELD2 | c.635C>A (p.Thr212Lys) | |
5 | g.69420020C= | CA1553916779 | MARVELD2 | c.635C= (p.Thr212=) | |
5 | g.69420020C>G | CA359924011 | MARVELD2 | c.635C>G (p.Thr212Arg) | |
5 | g.69420020C>T | CA3294086 | MARVELD2 | c.635C>T (p.Thr212Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.69420021A>C | CA445083682 | MARVELD2 | c.636A>C (p.Thr212=) | |
5 | g.69420021A>G | CA445083677 | MARVELD2 | c.636A>G (p.Thr212=) | |
5 | g.69420021A>T | CA445083681 | MARVELD2 | c.636A>T (p.Thr212=) | |
5 | g.69420022G>A | CA359924015 | MARVELD2 | c.637G>A (p.Ala213Thr) | |
5 | g.69420022G>C | CA359924017 | MARVELD2 | c.637G>C (p.Ala213Pro) | |
5 | g.69420022G>T | CA359924019 | MARVELD2 | c.637G>T (p.Ala213Ser) | |
5 | g.69420023C>A | CA359924024 | MARVELD2 | c.638C>A (p.Ala213Asp) | |
5 | g.69420023C>G | CA359924023 | MARVELD2 | c.638C>G (p.Ala213Gly) | |
5 | g.69420023C>T | CA359924021 | MARVELD2 | c.638C>T (p.Ala213Val) | gnomAD v4 |
5 | g.69420024T>A | CA445083689 | MARVELD2 | c.639T>A (p.Ala213=) | |
5 | g.69420024T>C | CA445083697 | MARVELD2 | c.639T>C (p.Ala213=) | |
5 | g.69420024T>G | CA445083693 | MARVELD2 | c.639T>G (p.Ala213=) | COSMIC |
5 | g.69420025T>A | CA359924027 | MARVELD2 | c.640T>A (p.Tyr214Asn) | |
5 | g.69420025T>C | CA359924031 | MARVELD2 | c.640T>C (p.Tyr214His) | |
5 | g.69420025T>G | CA119991706 | MARVELD2 | c.640T>G (p.Tyr214Asp) | dbSNP |
5 | g.69420025T= | CA1553916782 | MARVELD2 | c.640T= (p.Tyr214=) | |
5 | g.69420026A>C | CA359924033 | MARVELD2 | c.641A>C (p.Tyr214Ser) | |
5 | g.69420026A>G | CA359924035 | MARVELD2 | c.641A>G (p.Tyr214Cys) | |
5 | g.69420026A>T | CA359924037 | MARVELD2 | c.641A>T (p.Tyr214Phe) | |
5 | g.69420027C>A | CA359924039 | MARVELD2 | c.642C>A (p.Tyr214Ter) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.69420027C= | CA1553916785 | MARVELD2 | c.642C= (p.Tyr214=) | |
5 | g.69420027C>G | CA359924041 | MARVELD2 | c.642C>G (p.Tyr214Ter) |