Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.86900095A= | CA1925715284 | BMPR1A | c.499A= (p.Met167=) | |
10 | g.86900095A>C | CA377450557 | BMPR1A | c.499A>C (p.Met167Leu) | |
10 | g.86900095A>G | CA334421 | BMPR1A | c.499A>G (p.Met167Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86900095A>T | CA197010 | BMPR1A | c.499A>T (p.Met167Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.86900096T>A | CA377450558 | BMPR1A | c.500T>A (p.Met167Lys) | |
10 | g.86900096T>C | CA377450559 | BMPR1A | c.500T>C (p.Met167Thr) | |
10 | g.86900096T>G | CA377450561 | BMPR1A | c.500T>G (p.Met167Arg) | |
10 | g.86900097G>A | CA377450564 | BMPR1A | c.501G>A (p.Met167Ile) | gnomAD v4 |
10 | g.86900097G>C | CA377450566 | BMPR1A | c.501G>C (p.Met167Ile) | ClinVar |
10 | g.86900097G>T | CA377450574 | BMPR1A | c.501G>T (p.Met167Ile) | |
10 | g.86900097_86900100delinsGATC | CA1925715294 | BMPR1A | c.501_504delinsGATC (p.Met167=) | |
10 | g.86900098A>C | CA377450576 | BMPR1A | c.502A>C (p.Ile168Leu) | |
10 | g.86900098A>G | CA377450578 | BMPR1A | c.502A>G (p.Ile168Val) | gnomAD v4 |
10 | g.86900098A>T | CA377450582 | BMPR1A | c.502A>T (p.Ile168Phe) | gnomAD v4 |
10 | g.86900101_86900103del | CA16043451 | BMPR1A | c.505_507del (p.Ile169del) | ClinVar dbSNP gnomAD v4 |
10 | g.86900098_86900104delinsATCATCT | CA1925715300 | BMPR1A | c.502_508delinsATCATCT (p.Ile168=) | |
10 | g.86900099T>A | CA377450586 | BMPR1A | c.503T>A (p.Ile168Asn) | |
10 | g.86900099T>C | CA377450604 | BMPR1A | c.503T>C (p.Ile168Thr) | ClinVar |
10 | g.86900099T>G | CA377450600 | BMPR1A | c.503T>G (p.Ile168Ser) | |
10 | g.86900101_86900106del | CA915947541 | BMPR1A | c.505_510del (p.Ile169_Phe170del) | ClinVar dbSNP |
10 | g.86900100C>A | CA470307148 | BMPR1A | c.504C>A (p.Ile168=) | gnomAD v4 |
10 | g.86900100C= | CA1925715313 | BMPR1A | c.504C= (p.Ile168=) | |
10 | g.86900100C>G | CA193680 | BMPR1A | c.504C>G (p.Ile168Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.86900100C>T | CA470307150 | BMPR1A | c.504C>T (p.Ile168=) | |
10 | g.86900101A= | CA1925715324 | BMPR1A | c.505A= (p.Ile169=) | |
10 | g.86900101A>C | CA377450612 | BMPR1A | c.505A>C (p.Ile169Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.86900101A>G | CA377450608 | BMPR1A | c.505A>G (p.Ile169Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.86900101A>T | CA10582742 | BMPR1A | c.505A>T (p.Ile169Phe) | ClinVar dbSNP gnomAD v4 |
10 | g.86900101_86900104delinsATCT | CA1925715332 | BMPR1A | c.505_508delinsATCT (p.Ile169=) | |
10 | g.86900102T>A | CA377450617 | BMPR1A | c.506T>A (p.Ile169Asn) | |
10 | g.86900102T>C | CA377450619 | BMPR1A | c.506T>C (p.Ile169Thr) | ClinVar dbSNP |
10 | g.86900102T>G | CA377450631 | BMPR1A | c.506T>G (p.Ile169Ser) | |
10 | g.86900102T= | CA1925715338 | BMPR1A | c.506T= (p.Ile169=) | |
10 | g.86900105_86900107del | CA10582743 | BMPR1A | c.509_511del (p.Phe170del) | ClinVar dbSNP gnomAD v4 |
10 | g.86900102_86900103insTCC | CA5585534 | BMPR1A | c.506_507insTCC (p.Ile169_Phe170insPro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.86900103C>A | CA470307158 | BMPR1A | c.507C>A (p.Ile169=) | |
10 | g.86900103C>G | CA377450636 | BMPR1A | c.507C>G (p.Ile169Met) | gnomAD v4 |
10 | g.86900103C>T | CA470307160 | BMPR1A | c.507C>T (p.Ile169=) | ClinVar |
10 | g.86900104T>A | CA377450639 | BMPR1A | c.508T>A (p.Phe170Ile) | ClinVar |
10 | g.86900104T>C | CA377450640 | BMPR1A | c.508T>C (p.Phe170Leu) | |
10 | g.86900104T>G | CA377450641 | BMPR1A | c.508T>G (p.Phe170Val) | |
10 | g.86900105T>A | CA377450642 | BMPR1A | c.509T>A (p.Phe170Tyr) | |
10 | g.86900105T>C | CA377450643 | BMPR1A | c.509T>C (p.Phe170Ser) | |
10 | g.86900105T>G | CA211191028 | BMPR1A | c.509T>G (p.Phe170Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.86900105T= | CA1925715349 | BMPR1A | c.509T= (p.Phe170=) | |
10 | g.86900106del | CA2739275871 | BMPR1A | c.510del (p.Ser171ProfsTer?) | ClinVar |
10 | g.86900106C>A | CA377450650 | BMPR1A | c.510C>A (p.Phe170Leu) | |
10 | g.86900106C= | CA1925715353 | BMPR1A | c.510C= (p.Phe170=) | |
10 | g.86900106C>G | CA377450645 | BMPR1A | c.510C>G (p.Phe170Leu) | |
10 | g.86900106C>T | CA186491 | BMPR1A | c.510C>T (p.Phe170=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |