Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.86917197G>A | CA377457414 | BMPR1A | c.739G>A (p.Glu247Lys) | ClinVar dbSNP |
10 | g.86917197G>C | CA377457417 | BMPR1A | c.739G>C (p.Glu247Gln) | |
10 | g.86917197G= | CA1925725657 | BMPR1A | c.739G= (p.Glu247=) | |
10 | g.86917197G>T | CA377457421 | BMPR1A | c.739G>T (p.Glu247Ter) | |
10 | g.86917198A>C | CA377457435 | BMPR1A | c.740A>C (p.Glu247Ala) | |
10 | g.86917198A>G | CA377457424 | BMPR1A | c.740A>G (p.Glu247Gly) | |
10 | g.86917198A>T | CA377457427 | BMPR1A | c.740A>T (p.Glu247Val) | |
10 | g.86917199A= | CA1925725658 | BMPR1A | c.741A= (p.Glu247=) | |
10 | g.86917199A>C | CA377457438 | BMPR1A | c.741A>C (p.Glu247Asp) | ClinVar dbSNP |
10 | g.86917199A>G | CA470308011 | BMPR1A | c.741A>G (p.Glu247=) | |
10 | g.86917199A>T | CA377457444 | BMPR1A | c.741A>T (p.Glu247Asp) | |
10 | g.86917200G>A | CA377457448 | BMPR1A | c.742G>A (p.Val248Ile) | |
10 | g.86917200G>C | CA377457449 | BMPR1A | c.742G>C (p.Val248Leu) | |
10 | g.86917200G>T | CA377457452 | BMPR1A | c.742G>T (p.Val248Leu) | |
10 | g.86917201T>A | CA377457456 | BMPR1A | c.743T>A (p.Val248Glu) | |
10 | g.86917201T>C | CA377457474 | BMPR1A | c.743T>C (p.Val248Ala) | ClinVar dbSNP |
10 | g.86917201T>G | CA377457460 | BMPR1A | c.743T>G (p.Val248Gly) | |
10 | g.86917201T= | CA1925725659 | BMPR1A | c.743T= (p.Val248=) | |
10 | g.86917202A= | CA1925725660 | BMPR1A | c.744A= (p.Val248=) | |
10 | g.86917202A>C | CA470308012 | BMPR1A | c.744A>C (p.Val248=) | |
10 | g.86917202A>G | CA16613123 | BMPR1A | c.744A>G (p.Val248=) | ClinVar dbSNP gnomAD v4 |
10 | g.86917202A>T | CA470308013 | BMPR1A | c.744A>T (p.Val248=) | |
10 | g.86917203T>A | CA377457480 | BMPR1A | c.745T>A (p.Trp249Arg) | |
10 | g.86917203T>C | CA211206989 | BMPR1A | c.745T>C (p.Trp249Arg) | ClinVar dbSNP |
10 | g.86917203T>G | CA377457492 | BMPR1A | c.745T>G (p.Trp249Gly) | |
10 | g.86917203T= | CA1925725661 | BMPR1A | c.745T= (p.Trp249=) | |
10 | g.86917204G>A | CA377457497 | BMPR1A | c.746G>A (p.Trp249Ter) | ClinVar |
10 | g.86917204G>C | CA377457500 | BMPR1A | c.746G>C (p.Trp249Ser) | |
10 | g.86917204G>T | CA377457501 | BMPR1A | c.746G>T (p.Trp249Leu) | |
10 | g.86917205G>A | CA377457502 | BMPR1A | c.747G>A (p.Trp249Ter) | |
10 | g.86917205G>C | CA377457503 | BMPR1A | c.747G>C (p.Trp249Cys) | |
10 | g.86917205G>T | CA377457505 | BMPR1A | c.747G>T (p.Trp249Cys) | |
10 | g.86917206A= | CA1925725662 | BMPR1A | c.748A= (p.Met250=) | |
10 | g.86917206A>C | CA377457513 | BMPR1A | c.748A>C (p.Met250Leu) | |
10 | g.86917206A>G | CA377457516 | BMPR1A | c.748A>G (p.Met250Val) | ClinVar dbSNP gnomAD v4 |
10 | g.86917206A>T | CA5585597 | BMPR1A | c.748A>T (p.Met250Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.86917207T>A | CA377457536 | BMPR1A | c.749T>A (p.Met250Lys) | |
10 | g.86917207T>C | CA190609 | BMPR1A | c.749T>C (p.Met250Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86917207T>G | CA377457542 | BMPR1A | c.749T>G (p.Met250Arg) | |
10 | g.86917207T= | CA1925725663 | BMPR1A | c.749T= (p.Met250=) | |
10 | g.86917208G>A | CA377457551 | BMPR1A | c.750G>A (p.Met250Ile) | ClinVar dbSNP |
10 | g.86917208G>C | CA377457554 | BMPR1A | c.750G>C (p.Met250Ile) | |
10 | g.86917208G= | CA1925725664 | BMPR1A | c.750G= (p.Met250=) | |
10 | g.86917208G>T | CA377457558 | BMPR1A | c.750G>T (p.Met250Ile) | |
10 | g.86917209G>A | CA377457562 | BMPR1A | c.751G>A (p.Gly251Ser) | |
10 | g.86917209G>C | CA377457563 | BMPR1A | c.751G>C (p.Gly251Arg) | |
10 | g.86917209G= | CA1925725665 | BMPR1A | c.751G= (p.Gly251=) | |
10 | g.86917209G>T | CA5585598 | BMPR1A | c.751G>T (p.Gly251Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86917210G>A | CA377457564 | BMPR1A | c.752G>A (p.Gly251Asp) | ClinVar dbSNP |
10 | g.86917210G>C | CA377457565 | BMPR1A | c.752G>C (p.Gly251Ala) |