Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.86919152del | CA2574600519 | BMPR1A | c.869-20del (n.869-20del) | |
10 | g.86919154A>T | CA2722465306 | BMPR1A | c.869-18A>T (n.869-18A>T) | dbSNP |
10 | g.86919155A>C | CA2610001812 | BMPR1A | c.869-17A>C (n.869-17A>C) | gnomAD v4 |
10 | g.86919156C= | CA1925726250 | BMPR1A | c.869-16C= (n.869-16C=) | |
10 | g.86919156C>T | CA913188297 | BMPR1A | c.869-16C>T (n.869-16C>T) | ClinVar dbSNP gnomAD v4 |
10 | g.86919157T>C | CA2580082118 | BMPR1A | c.869-15T>C (n.869-15T>C) | ClinVar |
10 | g.86919158C= | CA1925726255 | BMPR1A | c.869-14C= (n.869-14C=) | |
10 | g.86919158C>G | CA2573053345 | BMPR1A | c.869-14C>G (n.869-14C>G) | ClinVar dbSNP |
10 | g.86919158C>T | CA5585627 | BMPR1A | c.869-14C>T (n.869-14C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86919159A>T | CA2499220428 | BMPR1A | c.869-13A>T (n.869-13A>T) | ClinVar dbSNP |
10 | g.86919161C>A | CA2610001813 | BMPR1A | c.869-11C>A (n.869-11C>A) | gnomAD v4 |
10 | g.86919161C>G | CA2610001815 | BMPR1A | c.869-11C>G (n.869-11C>G) | gnomAD v4 |
10 | g.86919161C>T | CA2610001814 | BMPR1A | c.869-11C>T (n.869-11C>T) | gnomAD v4 |
10 | g.86919163A>C | CA2610001816 | BMPR1A | c.869-9A>C (n.869-9A>C) | gnomAD v4 |
10 | g.86919163A>G | CA1139771717 | BMPR1A | c.869-9A>G (n.869-9A>G) | ClinVar dbSNP |
10 | g.86919164C= | CA1925726259 | BMPR1A | c.869-8C= (n.869-8C=) | |
10 | g.86919164C>G | CA916081592 | BMPR1A | c.869-8C>G (n.869-8C>G) | ClinVar dbSNP |
10 | g.86919164C>T | CA1139661554 | BMPR1A | c.869-8C>T (n.869-8C>T) | ClinVar dbSNP |
10 | g.86919166G>A | CA1139661555 | BMPR1A | c.869-6G>A (n.869-6G>A) | ClinVar dbSNP |
10 | g.86919166G= | CA1925726265 | BMPR1A | c.869-6G= (n.869-6G=) | |
10 | g.86919167G>A | CA5585628 | BMPR1A | c.869-5G>A (n.869-5G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.86919167G>C | CA2697558526 | BMPR1A | c.869-5G>C (n.869-5G>C) | ClinVar |
10 | g.86919167G= | CA1925726268 | BMPR1A | c.869-5G= (n.869-5G=) | |
10 | g.86919167G>T | CA913188298 | BMPR1A | c.869-5G>T (n.869-5G>T) | ClinVar dbSNP |
10 | g.86919168A= | CA1925726277 | BMPR1A | c.869-4A= (n.869-4A=) | |
10 | g.86919168A>C | CA211208496 | BMPR1A | c.869-4A>C (n.869-4A>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.86919169_86919174delinsCAGGTT | CA1925726285 | BMPR1A | c.869-3_871delinsCAGGTT | |
10 | g.86919170A>C | CA377459717 | BMPR1A | c.869-2A>C (n.869-2A>C) | |
10 | g.86919170A>G | CA377459720 | BMPR1A | c.869-2A>G (n.869-2A>G) | |
10 | g.86919170A>T | CA377459724 | BMPR1A | c.869-2A>T (n.869-2A>T) | dbSNP |
10 | g.86919170_86919174del | CA891843415 | BMPR1A | c.869-2_871del | ClinVar dbSNP |
10 | g.86919171G>A | CA377459739 | BMPR1A | c.869-1G>A (n.869-1G>A) | |
10 | g.86919171G>C | CA377459735 | BMPR1A | c.869-1G>C (n.869-1G>C) | |
10 | g.86919171G>T | CA377459732 | BMPR1A | c.869-1G>T (n.869-1G>T) | |
10 | g.86919172G>A | CA377459742 | BMPR1A | c.869G>A (p.Gly290Asp) | ClinVar dbSNP |
10 | g.86919172G>C | CA10578888 | BMPR1A | c.869G>C (p.Gly290Ala) | ClinVar dbSNP |
10 | g.86919172G= | CA1925726295 | BMPR1A | c.869G= (p.Gly290=) | |
10 | g.86919172G>T | CA377459745 | BMPR1A | c.869G>T (p.Gly290Val) | |
10 | g.86919173T>A | CA470367830 | BMPR1A | c.870T>A (p.Gly290=) | |
10 | g.86919173T>C | CA470367832 | BMPR1A | c.870T>C (p.Gly290=) | gnomAD v4 |
10 | g.86919173T>G | CA470367831 | BMPR1A | c.870T>G (p.Gly290=) | |
10 | g.86919175dup | CA2573053346 | BMPR1A | c.872dup (p.Ile292HisfsTer6) | ClinVar dbSNP |
10 | g.86919174T>A | CA377459755 | BMPR1A | c.871T>A (p.Phe291Ile) | |
10 | g.86919174T>C | CA377459760 | BMPR1A | c.871T>C (p.Phe291Leu) | |
10 | g.86919174T>G | CA377459757 | BMPR1A | c.871T>G (p.Phe291Val) | |
10 | g.86919175T>A | CA377459763 | BMPR1A | c.872T>A (p.Phe291Tyr) | |
10 | g.86919175T>C | CA377459765 | BMPR1A | c.872T>C (p.Phe291Ser) | |
10 | g.86919175T>G | CA377459764 | BMPR1A | c.872T>G (p.Phe291Cys) | |
10 | g.86919176C>A | CA377459766 | BMPR1A | c.873C>A (p.Phe291Leu) | |
10 | g.86919176C= | CA1925726298 | BMPR1A | c.873C= (p.Phe291=) |