Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.86900037dup | CA2788868733 | BMPR1A | c.441dup (p.Asp148Ter) | |
10 | g.86900037del | CA5585524 | BMPR1A | c.441del (p.Phe147LeufsTer18) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
10 | g.86900036_86900054delinsTTGATGGCAGCATTCGATG | CA1925715076 | BMPR1A | c.440_458delinsTTGATGGCAGCATTCGATG (p.Phe147=) | |
10 | g.86900037T>A | CA377450128 | BMPR1A | c.441T>A (p.Phe147Leu) | |
10 | g.86900037T>C | CA470306984 | BMPR1A | c.441T>C (p.Phe147=) | ClinVar dbSNP |
10 | g.86900037T>G | CA377450127 | BMPR1A | c.441T>G (p.Phe147Leu) | |
10 | g.86900037T= | CA1925715078 | BMPR1A | c.441T= (p.Phe147=) | |
10 | g.86900037_86900054delinsGA | CA645369424 | BMPR1A | c.441_458delinsGA (p.Phe147LeufsTer13) | ClinVar dbSNP |
10 | g.86900038G>A | CA377450130 | BMPR1A | c.442G>A (p.Asp148Asn) | |
10 | g.86900038G>C | CA377450136 | BMPR1A | c.442G>C (p.Asp148His) | |
10 | g.86900038G>T | CA377450132 | BMPR1A | c.442G>T (p.Asp148Tyr) | |
10 | g.86900039A= | CA1925715079 | BMPR1A | c.443A= (p.Asp148=) | |
10 | g.86900039A>C | CA377450141 | BMPR1A | c.443A>C (p.Asp148Ala) | |
10 | g.86900039A>G | CA377450146 | BMPR1A | c.443A>G (p.Asp148Gly) | ClinVar dbSNP |
10 | g.86900039A>T | CA377450143 | BMPR1A | c.443A>T (p.Asp148Val) | gnomAD v4 |
10 | g.86900040T>A | CA377450148 | BMPR1A | c.444T>A (p.Asp148Glu) | |
10 | g.86900040T>C | CA470306990 | BMPR1A | c.444T>C (p.Asp148=) | gnomAD v4 |
10 | g.86900040T>G | CA377450149 | BMPR1A | c.444T>G (p.Asp148Glu) | |
10 | g.86900041G>A | CA377450151 | BMPR1A | c.445G>A (p.Gly149Ser) | ClinVar dbSNP |
10 | g.86900041G>C | CA377450161 | BMPR1A | c.445G>C (p.Gly149Arg) | |
10 | g.86900041G= | CA1925715080 | BMPR1A | c.445G= (p.Gly149=) | |
10 | g.86900041G>T | CA377450159 | BMPR1A | c.445G>T (p.Gly149Cys) | |
10 | g.86900042G>A | CA377450167 | BMPR1A | c.446G>A (p.Gly149Asp) | |
10 | g.86900042G>C | CA377450172 | BMPR1A | c.446G>C (p.Gly149Ala) | |
10 | g.86900042G= | CA1925715081 | BMPR1A | c.446G= (p.Gly149=) | |
10 | g.86900042G>T | CA5585526 | BMPR1A | c.446G>T (p.Gly149Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.86900043C>A | CA470306998 | BMPR1A | c.447C>A (p.Gly149=) | |
10 | g.86900043C= | CA1925715082 | BMPR1A | c.447C= (p.Gly149=) | |
10 | g.86900043C>G | CA470306999 | BMPR1A | c.447C>G (p.Gly149=) | |
10 | g.86900043C>T | CA470307001 | BMPR1A | c.447C>T (p.Gly149=) | ClinVar dbSNP |
10 | g.86900044A>C | CA377450174 | BMPR1A | c.448A>C (p.Ser150Arg) | |
10 | g.86900044A>G | CA377450184 | BMPR1A | c.448A>G (p.Ser150Gly) | ClinVar |
10 | g.86900044A>T | CA377450176 | BMPR1A | c.448A>T (p.Ser150Cys) | |
10 | g.86900045G>A | CA377450188 | BMPR1A | c.449G>A (p.Ser150Asn) | dbSNP |
10 | g.86900045G>C | CA377450197 | BMPR1A | c.449G>C (p.Ser150Thr) | |
10 | g.86900045G>T | CA377450190 | BMPR1A | c.449G>T (p.Ser150Ile) | |
10 | g.86900046C>A | CA377450201 | BMPR1A | c.450C>A (p.Ser150Arg) | |
10 | g.86900046C= | CA1925715083 | BMPR1A | c.450C= (p.Ser150=) | |
10 | g.86900046C>G | CA377450205 | BMPR1A | c.450C>G (p.Ser150Arg) | dbSNP |
10 | g.86900046C>T | CA5585527 | BMPR1A | c.450C>T (p.Ser150=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.86900047A= | CA1925715084 | BMPR1A | c.451A= (p.Ile151=) | |
10 | g.86900047A>C | CA377450208 | BMPR1A | c.451A>C (p.Ile151Leu) | |
10 | g.86900047A>G | CA377450210 | BMPR1A | c.451A>G (p.Ile151Val) | |
10 | g.86900047A>T | CA377450221 | BMPR1A | c.451A>T (p.Ile151Phe) | ClinVar dbSNP |
10 | g.86900048T>A | CA377450222 | BMPR1A | c.452T>A (p.Ile151Asn) | |
10 | g.86900048T>C | CA377450223 | BMPR1A | c.452T>C (p.Ile151Thr) | ClinVar dbSNP |
10 | g.86900048T>G | CA377450224 | BMPR1A | c.452T>G (p.Ile151Ser) | ClinVar |
10 | g.86900048T= | CA1925715085 | BMPR1A | c.452T= (p.Ile151=) | |
10 | g.86900048_86900049del | CA2573053328 | BMPR1A | c.452_453del (p.Ile151ThrfsTer?) | ClinVar dbSNP |
10 | g.86900049T>A | CA470307013 | BMPR1A | c.453T>A (p.Ile151=) | ClinVar |