Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.86917292C>A | CA377458622 | BMPR1A | c.834C>A (p.Tyr278Ter) | ClinVar dbSNP |
10 | g.86917292C= | CA1925725712 | BMPR1A | c.834C= (p.Tyr278=) | |
10 | g.86917292C>G | CA377458623 | BMPR1A | c.834C>G (p.Tyr278Ter) | ClinVar dbSNP |
10 | g.86917292C>T | CA470308094 | BMPR1A | c.834C>T (p.Tyr278=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.86917293dup | CA2573053343 | BMPR1A | c.835dup (p.Gln279ProfsTer8) | ClinVar dbSNP |
10 | g.86917293C>A | CA377458630 | BMPR1A | c.835C>A (p.Gln279Lys) | |
10 | g.86917293C>G | CA377458631 | BMPR1A | c.835C>G (p.Gln279Glu) | |
10 | g.86917293C>T | CA377458632 | BMPR1A | c.835C>T (p.Gln279Ter) | |
10 | g.86917294A= | CA1925725713 | BMPR1A | c.836A= (p.Gln279=) | |
10 | g.86917294A>C | CA377458641 | BMPR1A | c.836A>C (p.Gln279Pro) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.86917294A>G | CA377458645 | BMPR1A | c.836A>G (p.Gln279Arg) | |
10 | g.86917294A>T | CA377458636 | BMPR1A | c.836A>T (p.Gln279Leu) | |
10 | g.86917295A>C | CA377458659 | BMPR1A | c.837A>C (p.Gln279His) | |
10 | g.86917295A>G | CA470308095 | BMPR1A | c.837A>G (p.Gln279=) | gnomAD v3 gnomAD v4 |
10 | g.86917295A>T | CA377458651 | BMPR1A | c.837A>T (p.Gln279His) | |
10 | g.86917296A>C | CA377458664 | BMPR1A | c.838A>C (p.Thr280Pro) | |
10 | g.86917296A>G | CA377458666 | BMPR1A | c.838A>G (p.Thr280Ala) | |
10 | g.86917296A>T | CA377458669 | BMPR1A | c.838A>T (p.Thr280Ser) | |
10 | g.86917297C>A | CA377458675 | BMPR1A | c.839C>A (p.Thr280Asn) | dbSNP |
10 | g.86917297C= | CA1925725714 | BMPR1A | c.839C= (p.Thr280=) | |
10 | g.86917297C>G | CA16619006 | BMPR1A | c.839C>G (p.Thr280Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86917297C>T | CA377458683 | BMPR1A | c.839C>T (p.Thr280Ile) | |
10 | g.86917298T>A | CA470308096 | BMPR1A | c.840T>A (p.Thr280=) | |
10 | g.86917298T>C | CA211207093 | BMPR1A | c.840T>C (p.Thr280=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86917298T>G | CA470308097 | BMPR1A | c.840T>G (p.Thr280=) | gnomAD v4 |
10 | g.86917298T= | CA1925725715 | BMPR1A | c.840T= (p.Thr280=) | |
10 | g.86917300_86917301del | CA2697558525 | BMPR1A | c.842_843del (p.Val281AlafsTer5) | ClinVar |
10 | g.86917299G>A | CA211207097 | BMPR1A | c.841G>A (p.Val281Met) | ClinVar dbSNP gnomAD v4 |
10 | g.86917299G>C | CA377458695 | BMPR1A | c.841G>C (p.Val281Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.86917299G= | CA1925725716 | BMPR1A | c.841G= (p.Val281=) | |
10 | g.86917299G>T | CA377458696 | BMPR1A | c.841G>T (p.Val281Leu) | |
10 | g.86917300T>A | CA377458697 | BMPR1A | c.842T>A (p.Val281Glu) | |
10 | g.86917300T>C | CA377458699 | BMPR1A | c.842T>C (p.Val281Ala) | ClinVar |
10 | g.86917300T>G | CA377458701 | BMPR1A | c.842T>G (p.Val281Gly) | |
10 | g.86917301G>A | CA470308098 | BMPR1A | c.843G>A (p.Val281=) | ClinVar dbSNP |
10 | g.86917301G>C | CA470308099 | BMPR1A | c.843G>C (p.Val281=) | |
10 | g.86917301G>T | CA470308100 | BMPR1A | c.843G>T (p.Val281=) | |
10 | g.86917302C>A | CA377458708 | BMPR1A | c.844C>A (p.Leu282Ile) | |
10 | g.86917302C= | CA1925725717 | BMPR1A | c.844C= (p.Leu282=) | |
10 | g.86917302C>G | CA377458710 | BMPR1A | c.844C>G (p.Leu282Val) | |
10 | g.86917302C>T | CA470308101 | BMPR1A | c.844C>T (p.Leu282=) | ClinVar dbSNP |
10 | g.86917303T>A | CA377458718 | BMPR1A | c.845T>A (p.Leu282Gln) | |
10 | g.86917303T>C | CA377458721 | BMPR1A | c.845T>C (p.Leu282Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86917303T>G | CA377458725 | BMPR1A | c.845T>G (p.Leu282Arg) | ClinVar |
10 | g.86917303T= | CA1925725718 | BMPR1A | c.845T= (p.Leu282=) | |
10 | g.86917304A= | CA1925725719 | BMPR1A | c.846A= (p.Leu282=) | |
10 | g.86917304A>C | CA470308102 | BMPR1A | c.846A>C (p.Leu282=) | |
10 | g.86917304A>G | CA470308103 | BMPR1A | c.846A>G (p.Leu282=) | ClinVar dbSNP gnomAD v4 |
10 | g.86917304A>T | CA470308104 | BMPR1A | c.846A>T (p.Leu282=) | ClinVar |
10 | g.86917305dup | CA891843414 | BMPR1A | c.847dup (p.Met283AsnfsTer4) | ClinVar dbSNP |