Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.86892121T>C | CA211184133 | BMPR1A | c.231-6T>C (n.231-6T>C) | ClinVar dbSNP |
10 | g.86892121T= | CA1925707551 | BMPR1A | c.231-6T= (n.231-6T=) | |
10 | g.86892122_86892148dup | CA2580082084 | BMPR1A | c.231-5_252dup | ClinVar |
10 | g.86892123T>A | CA2697558517 | BMPR1A | c.231-4T>A (n.231-4T>A) | ClinVar |
10 | g.86892123T>C | CA915947534 | BMPR1A | c.231-4T>C (n.231-4T>C) | ClinVar dbSNP |
10 | g.86892123T= | CA1925707553 | BMPR1A | c.231-4T= (n.231-4T=) | |
10 | g.86892124T>C | CA2740093469 | BMPR1A | c.231-3T>C (n.231-3T>C) | ClinVar |
10 | g.86892125A= | CA1925707557 | BMPR1A | c.231-2A= (n.231-2A=) | |
10 | g.86892125A>C | CA377447866 | BMPR1A | c.231-2A>C (n.231-2A>C) | |
10 | g.86892125A>G | CA377447870 | BMPR1A | c.231-2A>G (n.231-2A>G) | ClinVar |
10 | g.86892125A>T | CA5585463 | BMPR1A | c.231-2A>T (n.231-2A>T) | dbSNP ExAC gnomAD v2 |
10 | g.86892126G>A | CA377447876 | BMPR1A | c.231-1G>A (n.231-1G>A) | COSMIC COSMIC |
10 | g.86892126G>C | CA377447877 | BMPR1A | c.231-1G>C (n.231-1G>C) | ClinVar dbSNP |
10 | g.86892126G= | CA1925707559 | BMPR1A | c.231-1G= (n.231-1G=) | |
10 | g.86892126G>T | CA377447881 | BMPR1A | c.231-1G>T (n.231-1G>T) | gnomAD v4 |
10 | g.86892127A>C | CA470304958 | BMPR1A | c.231A>C (p.Ile77=) | |
10 | g.86892127A>G | CA377447884 | BMPR1A | c.231A>G (p.Ile77Met) | |
10 | g.86892127A>T | CA470304960 | BMPR1A | c.231A>T (p.Ile77=) | |
10 | g.86892128A>C | CA377447886 | BMPR1A | c.232A>C (p.Thr78Pro) | |
10 | g.86892128A>G | CA377447888 | BMPR1A | c.232A>G (p.Thr78Ala) | |
10 | g.86892128A>T | CA377447887 | BMPR1A | c.232A>T (p.Thr78Ser) | |
10 | g.86892129C>A | CA377447889 | BMPR1A | c.233C>A (p.Thr78Asn) | |
10 | g.86892129C= | CA1925707564 | BMPR1A | c.233C= (p.Thr78=) | |
10 | g.86892129C>G | CA377447890 | BMPR1A | c.233C>G (p.Thr78Ser) | dbSNP gnomAD v2 COSMIC COSMIC |
10 | g.86892129C>T | CA16618999 | BMPR1A | c.233C>T (p.Thr78Ile) | ClinVar dbSNP |
10 | g.86892130T>A | CA470304966 | BMPR1A | c.234T>A (p.Thr78=) | |
10 | g.86892130T>C | CA470304970 | BMPR1A | c.234T>C (p.Thr78=) | |
10 | g.86892130T>G | CA470304968 | BMPR1A | c.234T>G (p.Thr78=) | |
10 | g.86892131A>C | CA377447892 | BMPR1A | c.235A>C (p.Asn79His) | |
10 | g.86892131A>G | CA377447894 | BMPR1A | c.235A>G (p.Asn79Asp) | |
10 | g.86892131A>T | CA377447896 | BMPR1A | c.235A>T (p.Asn79Tyr) | |
10 | g.86892132del | CA2695212253 | BMPR1A | c.236del (p.Asn79MetfsTer8) | |
10 | g.86892132A= | CA1925707570 | BMPR1A | c.236A= (p.Asn79=) | |
10 | g.86892132A>C | CA377447905 | BMPR1A | c.236A>C (p.Asn79Thr) | |
10 | g.86892132A>G | CA377447900 | BMPR1A | c.236A>G (p.Asn79Ser) | ClinVar dbSNP |
10 | g.86892132A>T | CA377447903 | BMPR1A | c.236A>T (p.Asn79Ile) | |
10 | g.86892133T>A | CA377447909 | BMPR1A | c.237T>A (p.Asn79Lys) | |
10 | g.86892133T>C | CA470304974 | BMPR1A | c.237T>C (p.Asn79=) | ClinVar dbSNP gnomAD v4 |
10 | g.86892133T>G | CA377447912 | BMPR1A | c.237T>G (p.Asn79Lys) | |
10 | g.86892133T= | CA1925707573 | BMPR1A | c.237T= (p.Asn79=) | |
10 | g.86892135_86892146del | CA2580082085 | BMPR1A | c.239_250del (p.Gly80_Phe83del) | ClinVar |
10 | g.86892134G>A | CA377447914 | BMPR1A | c.238G>A (p.Gly80Arg) | |
10 | g.86892134G>C | CA377447916 | BMPR1A | c.238G>C (p.Gly80Arg) | |
10 | g.86892134G>T | CA377447917 | BMPR1A | c.238G>T (p.Gly80Ter) | |
10 | g.86892135G>A | CA377447920 | BMPR1A | c.239G>A (p.Gly80Glu) | |
10 | g.86892135G>C | CA377447918 | BMPR1A | c.239G>C (p.Gly80Ala) | |
10 | g.86892135G= | CA1925707578 | BMPR1A | c.239G= (p.Gly80=) | |
10 | g.86892135G>T | CA377447919 | BMPR1A | c.239G>T (p.Gly80Val) | ClinVar dbSNP |
10 | g.86892136A= | CA1925707584 | BMPR1A | c.240A= (p.Gly80=) | |
10 | g.86892136A>C | CA470304981 | BMPR1A | c.240A>C (p.Gly80=) | dbSNP gnomAD v2 gnomAD v4 |