Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.69420113A= | CA1553916905 | MARVELD2 | c.728A= (p.Tyr243=) c.725+3A= (n.725+3A=) | |
5 | g.69420113A>C | CA359924361 | MARVELD2 | c.728A>C (p.Tyr243Ser) c.725+3A>C (n.725+3A>C) | |
5 | g.69420113A>G | CA3294102 | MARVELD2 | c.728A>G (p.Tyr243Cys) c.725+3A>G (n.725+3A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69420113A>T | CA359924362 | MARVELD2 | c.728A>T (p.Tyr243Phe) c.725+3A>T (n.725+3A>T) | dbSNP |
5 | g.69420114T>A | CA359924363 | MARVELD2 | c.729T>A (p.Tyr243Ter) c.725+4T>A (n.725+4T>A) | |
5 | g.69420114T>C | CA445083988 | MARVELD2 | c.729T>C (p.Tyr243=) c.725+4T>C (n.725+4T>C) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.69420114T>G | CA359924364 | MARVELD2 | c.729T>G (p.Tyr243Ter) c.725+4T>G (n.725+4T>G) | gnomAD v4 |
5 | g.69420114T= | CA1553916907 | MARVELD2 | c.729T= (p.Tyr243=) c.725+4T= (n.725+4T=) | |
5 | g.69420115G>A | CA359924365 | MARVELD2 | c.730G>A (p.Gly244Arg) c.725+5G>A (n.725+5G>A) | dbSNP gnomAD v4 |
5 | g.69420115G>C | CA359924366 | MARVELD2 | c.730G>C (p.Gly244Arg) c.725+5G>C (n.725+5G>C) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.69420115G= | CA1553916908 | MARVELD2 | c.730G= (p.Gly244=) c.725+5G= (n.725+5G=) | |
5 | g.69420115G>T | CA359924367 | MARVELD2 | c.730G>T (p.Gly244Trp) c.725+5G>T (n.725+5G>T) | gnomAD v4 |
5 | g.69420116G>A | CA359924368 | MARVELD2 | c.731G>A (p.Gly244Glu) c.725+6G>A (n.725+6G>A) | |
5 | g.69420116G>C | CA359924369 | MARVELD2 | c.731G>C (p.Gly244Ala) c.725+6G>C (n.725+6G>C) | dbSNP |
5 | g.69420116G= | CA1553916910 | MARVELD2 | c.731G= (p.Gly244=) c.725+6G= (n.725+6G=) | |
5 | g.69420116G>T | CA359924370 | MARVELD2 | c.731G>T (p.Gly244Val) c.725+6G>T (n.725+6G>T) | gnomAD v4 |
5 | g.69420117G>A | CA3294103 | MARVELD2 | c.732G>A (p.Gly244=) c.725+7G>A (n.725+7G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69420117G>C | CA445083991 | MARVELD2 | c.732G>C (p.Gly244=) c.725+7G>C (n.725+7G>C) | |
5 | g.69420117G= | CA1553916912 | MARVELD2 | c.732G= (p.Gly244=) c.725+7G= (n.725+7G=) | |
5 | g.69420117G>T | CA445083992 | MARVELD2 | c.732G>T (p.Gly244=) c.725+7G>T (n.725+7G>T) | |
5 | g.69420118G>A | CA359924371 | MARVELD2 | c.733G>A (p.Gly245Ser) c.725+8G>A (n.725+8G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69420118G>C | CA359924372 | MARVELD2 | c.733G>C (p.Gly245Arg) c.725+8G>C (n.725+8G>C) | |
5 | g.69420118G= | CA1553916914 | MARVELD2 | c.733G= (p.Gly245=) c.725+8G= (n.725+8G=) | |
5 | g.69420118G>T | CA359924373 | MARVELD2 | c.733G>T (p.Gly245Cys) c.725+8G>T (n.725+8G>T) | |
5 | g.69420119G>A | CA359924376 | MARVELD2 | c.734G>A (p.Gly245Asp) c.725+9G>A (n.725+9G>A) | |
5 | g.69420119G>C | CA359924374 | MARVELD2 | c.734G>C (p.Gly245Ala) c.725+9G>C (n.725+9G>C) | |
5 | g.69420119G>T | CA359924375 | MARVELD2 | c.734G>T (p.Gly245Val) c.725+9G>T (n.725+9G>T) | |
5 | g.69420120del | CA2674131320 | MARVELD2 | c.735del (p.Tyr246IlefsTer17) c.725+10del (n.725+10del) | gnomAD v4 |
5 | g.69420120C>A | CA445083997 | MARVELD2 | c.735C>A (p.Gly245=) c.725+10C>A (n.725+10C>A) | |
5 | g.69420120C= | CA1553916918 | MARVELD2 | c.735C= (p.Gly245=) c.725+10C= (n.725+10C=) | |
5 | g.69420120C>G | CA445083999 | MARVELD2 | c.735C>G (p.Gly245=) c.725+10C>G (n.725+10C>G) | |
5 | g.69420120C>T | CA445084001 | MARVELD2 | c.735C>T (p.Gly245=) c.725+10C>T (n.725+10C>T) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.69420121T>A | CA359924377 | MARVELD2 | c.736T>A (p.Tyr246Asn) c.725+11T>A (n.725+11T>A) | |
5 | g.69420121T>C | CA359924378 | MARVELD2 | c.736T>C (p.Tyr246His) c.725+11T>C (n.725+11T>C) | gnomAD v4 |
5 | g.69420121T>G | CA359924379 | MARVELD2 | c.736T>G (p.Tyr246Asp) c.725+11T>G (n.725+11T>G) | |
5 | g.69420122A= | CA1553916921 | MARVELD2 | c.737A= (p.Tyr246=) c.725+12A= (n.725+12A=) | |
5 | g.69420122A>C | CA359924380 | MARVELD2 | c.737A>C (p.Tyr246Ser) c.725+12A>C (n.725+12A>C) | |
5 | g.69420122A>G | CA3294104 | MARVELD2 | c.737A>G (p.Tyr246Cys) c.725+12A>G (n.725+12A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69420122A>T | CA359924381 | MARVELD2 | c.737A>T (p.Tyr246Phe) c.725+12A>T (n.725+12A>T) | gnomAD v4 |
5 | g.69420123T>A | CA359924382 | MARVELD2 | c.738T>A (p.Tyr246Ter) c.725+13T>A (n.725+13T>A) | |
5 | g.69420123T>C | CA445084010 | MARVELD2 | c.738T>C (p.Tyr246=) c.725+13T>C (n.725+13T>C) | |
5 | g.69420123T>G | CA359924383 | MARVELD2 | c.738T>G (p.Tyr246Ter) c.725+13T>G (n.725+13T>G) | |
5 | g.69420124del | CA445084011 | MARVELD2 | c.739del (p.Tyr247ThrfsTer16) c.725+14del (n.725+14del) | |
5 | g.69420124T>A | CA359924384 | MARVELD2 | c.739T>A (p.Tyr247Asn) c.725+14T>A (n.725+14T>A) | |
5 | g.69420124T>C | CA359924385 | MARVELD2 | c.739T>C (p.Tyr247His) c.725+14T>C (n.725+14T>C) | |
5 | g.69420124T>G | CA359924386 | MARVELD2 | c.739T>G (p.Tyr247Asp) c.725+14T>G (n.725+14T>G) | gnomAD v4 |
5 | g.69420125A>C | CA359924389 | MARVELD2 | c.740A>C (p.Tyr247Ser) c.725+15A>C (n.725+15A>C) | |
5 | g.69420125A>G | CA359924388 | MARVELD2 | c.740A>G (p.Tyr247Cys) c.725+15A>G (n.725+15A>G) | |
5 | g.69420125A>T | CA359924387 | MARVELD2 | c.740A>T (p.Tyr247Phe) c.725+15A>T (n.725+15A>T) | |
5 | g.69420126C>A | CA359924391 | MARVELD2 | c.741C>A (p.Tyr247Ter) c.725+16C>A (n.725+16C>A) |