Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.86917140C>A | CA188766 | BMPR1A | c.682C>A (p.Arg228=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86917140C= | CA1925725623 | BMPR1A | c.682C= (p.Arg228=) | |
10 | g.86917140C>G | CA377456882 | BMPR1A | c.682C>G (p.Arg228Gly) | |
10 | g.86917140C>T | CA294476 | BMPR1A | c.682C>T (p.Arg228Ter) | ClinVar dbSNP COSMIC COSMIC |
10 | g.86917141G>A | CA5585588 | BMPR1A | c.683G>A (p.Arg228Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.86917141G>C | CA377456889 | BMPR1A | c.683G>C (p.Arg228Pro) | |
10 | g.86917141G= | CA1925725624 | BMPR1A | c.683G= (p.Arg228=) | |
10 | g.86917141G>T | CA377456892 | BMPR1A | c.683G>T (p.Arg228Leu) | |
10 | g.86917142A>C | CA470307936 | BMPR1A | c.684A>C (p.Arg228=) | |
10 | g.86917142A>G | CA470307937 | BMPR1A | c.684A>G (p.Arg228=) | |
10 | g.86917142A>T | CA470307938 | BMPR1A | c.684A>T (p.Arg228=) | |
10 | g.86917143A>C | CA377456896 | BMPR1A | c.685A>C (p.Thr229Pro) | |
10 | g.86917143A>G | CA377456898 | BMPR1A | c.685A>G (p.Thr229Ala) | |
10 | g.86917143A>T | CA377456902 | BMPR1A | c.685A>T (p.Thr229Ser) | |
10 | g.86917144C>A | CA377456906 | BMPR1A | c.686C>A (p.Thr229Asn) | |
10 | g.86917144C>G | CA377456907 | BMPR1A | c.686C>G (p.Thr229Ser) | ClinVar |
10 | g.86917144C>T | CA377456908 | BMPR1A | c.686C>T (p.Thr229Ile) | |
10 | g.86917145T>A | CA470307940 | BMPR1A | c.687T>A (p.Thr229=) | |
10 | g.86917145T>C | CA470307942 | BMPR1A | c.687T>C (p.Thr229=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.86917145T>G | CA470307941 | BMPR1A | c.687T>G (p.Thr229=) | |
10 | g.86917145T= | CA1925725625 | BMPR1A | c.687T= (p.Thr229=) | |
10 | g.86917146A= | CA1925725626 | BMPR1A | c.688A= (p.Ile230=) | |
10 | g.86917146A>C | CA377456909 | BMPR1A | c.688A>C (p.Ile230Leu) | |
10 | g.86917146A>G | CA298514 | BMPR1A | c.688A>G (p.Ile230Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86917146A>T | CA377456912 | BMPR1A | c.688A>T (p.Ile230Phe) | ClinVar dbSNP |
10 | g.86917147T>A | CA377456914 | BMPR1A | c.689T>A (p.Ile230Asn) | |
10 | g.86917147T>C | CA377456922 | BMPR1A | c.689T>C (p.Ile230Thr) | ClinVar dbSNP |
10 | g.86917147T>G | CA377456917 | BMPR1A | c.689T>G (p.Ile230Ser) | |
10 | g.86917147T= | CA1925725627 | BMPR1A | c.689T= (p.Ile230=) | |
10 | g.86917147_86917148del | CA2573053341 | BMPR1A | c.689_690del (p.Ile230SerfsTer12) | ClinVar dbSNP |
10 | g.86917148T>A | CA470307944 | BMPR1A | c.690T>A (p.Ile230=) | |
10 | g.86917148T>C | CA470307945 | BMPR1A | c.690T>C (p.Ile230=) | |
10 | g.86917148T>G | CA377456934 | BMPR1A | c.690T>G (p.Ile230Met) | |
10 | g.86917149G>A | CA377456937 | BMPR1A | c.691G>A (p.Ala231Thr) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.86917149G>C | CA377456939 | BMPR1A | c.691G>C (p.Ala231Pro) | |
10 | g.86917149G= | CA1925725628 | BMPR1A | c.691G= (p.Ala231=) | |
10 | g.86917149G>T | CA377456941 | BMPR1A | c.691G>T (p.Ala231Ser) | |
10 | g.86917150C>A | CA377456944 | BMPR1A | c.692C>A (p.Ala231Asp) | |
10 | g.86917150C>G | CA377456945 | BMPR1A | c.692C>G (p.Ala231Gly) | |
10 | g.86917150C>T | CA377456963 | BMPR1A | c.692C>T (p.Ala231Val) | |
10 | g.86917151C>A | CA470307946 | BMPR1A | c.693C>A (p.Ala231=) | |
10 | g.86917151C= | CA1925725629 | BMPR1A | c.693C= (p.Ala231=) | |
10 | g.86917151C>G | CA16612890 | BMPR1A | c.693C>G (p.Ala231=) | ClinVar dbSNP gnomAD v4 |
10 | g.86917151C>T | CA470307947 | BMPR1A | c.693C>T (p.Ala231=) | ClinVar dbSNP gnomAD v4 |
10 | g.86917152A= | CA1925725630 | BMPR1A | c.694A= (p.Lys232=) | |
10 | g.86917152A>C | CA377456967 | BMPR1A | c.694A>C (p.Lys232Gln) | |
10 | g.86917152A>G | CA377456969 | BMPR1A | c.694A>G (p.Lys232Glu) | ClinVar dbSNP |
10 | g.86917152A>T | CA377456970 | BMPR1A | c.694A>T (p.Lys232Ter) | |
10 | g.86917153A= | CA1925725631 | BMPR1A | c.695A= (p.Lys232=) | |
10 | g.86917153A>C | CA377456992 | BMPR1A | c.695A>C (p.Lys232Thr) |