Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.86890202_86890218delinsGATGCTATTAATAACAC | CA1925706239 | BMPR1A | c.208_224delinsGATGCTATTAATAACAC (p.Asp70=) | |
10 | g.86890207_86890222del | CA16613195 | BMPR1A | c.213_228del (p.Ile72Ter) | ClinVar dbSNP |
10 | g.86890207T>A | CA470304594 | BMPR1A | c.213T>A (p.Ala71=) | |
10 | g.86890207T>C | CA470304595 | BMPR1A | c.213T>C (p.Ala71=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.86890207T>G | CA470304596 | BMPR1A | c.213T>G (p.Ala71=) | |
10 | g.86890207T= | CA1925706261 | BMPR1A | c.213T= (p.Ala71=) | |
10 | g.86890208A= | CA1925706267 | BMPR1A | c.214A= (p.Ile72=) | |
10 | g.86890208A>C | CA377447180 | BMPR1A | c.214A>C (p.Ile72Leu) | |
10 | g.86890208A>G | CA16618998 | BMPR1A | c.214A>G (p.Ile72Val) | ClinVar dbSNP gnomAD v4 |
10 | g.86890208A>T | CA377447188 | BMPR1A | c.214A>T (p.Ile72Phe) | |
10 | g.86890209T>A | CA377447191 | BMPR1A | c.215T>A (p.Ile72Asn) | |
10 | g.86890209T>C | CA377447196 | BMPR1A | c.215T>C (p.Ile72Thr) | ClinVar dbSNP |
10 | g.86890209T>G | CA377447193 | BMPR1A | c.215T>G (p.Ile72Ser) | |
10 | g.86890210dup | CA189133 | BMPR1A | c.216dup (p.Asn73Ter) | ClinVar dbSNP |
10 | g.86890210T>A | CA470304598 | BMPR1A | c.216T>A (p.Ile72=) | |
10 | g.86890210T>C | CA470304599 | BMPR1A | c.216T>C (p.Ile72=) | |
10 | g.86890210T>G | CA377447199 | BMPR1A | c.216T>G (p.Ile72Met) | |
10 | g.86890211A>C | CA377447202 | BMPR1A | c.217A>C (p.Asn73His) | |
10 | g.86890211A>G | CA377447204 | BMPR1A | c.217A>G (p.Asn73Asp) | |
10 | g.86890211A>T | CA377447207 | BMPR1A | c.217A>T (p.Asn73Tyr) | |
10 | g.86890212dup | CA2695212252 | BMPR1A | c.218dup (p.Asn73LysfsTer2) | |
10 | g.86890212A>C | CA377447210 | BMPR1A | c.218A>C (p.Asn73Thr) | |
10 | g.86890212A>G | CA377447211 | BMPR1A | c.218A>G (p.Asn73Ser) | |
10 | g.86890212A>T | CA377447213 | BMPR1A | c.218A>T (p.Asn73Ile) | |
10 | g.86890213T>A | CA377447216 | BMPR1A | c.219T>A (p.Asn73Lys) | |
10 | g.86890213T>C | CA470304603 | BMPR1A | c.219T>C (p.Asn73=) | |
10 | g.86890213T>G | CA377447219 | BMPR1A | c.219T>G (p.Asn73Lys) | |
10 | g.86890213_86890224del | CA2573145691 | BMPR1A | c.219_230del (p.Asn73_Ile77delinsLys) | ClinVar dbSNP |
10 | g.86890214A>C | CA377447223 | BMPR1A | c.220A>C (p.Asn74His) | |
10 | g.86890214A>G | CA377447226 | BMPR1A | c.220A>G (p.Asn74Asp) | |
10 | g.86890214A>T | CA377447228 | BMPR1A | c.220A>T (p.Asn74Tyr) | |
10 | g.86890215A>C | CA377447236 | BMPR1A | c.221A>C (p.Asn74Thr) | ClinVar dbSNP gnomAD v4 |
10 | g.86890215A>G | CA377447232 | BMPR1A | c.221A>G (p.Asn74Ser) | ClinVar |
10 | g.86890215A>T | CA377447234 | BMPR1A | c.221A>T (p.Asn74Ile) | |
10 | g.86890216C>A | CA377447238 | BMPR1A | c.222C>A (p.Asn74Lys) | |
10 | g.86890216C>G | CA377447240 | BMPR1A | c.222C>G (p.Asn74Lys) | |
10 | g.86890216C>T | CA470304606 | BMPR1A | c.222C>T (p.Asn74=) | ClinVar dbSNP |
10 | g.86890217A= | CA1925706282 | BMPR1A | c.223A= (p.Thr75=) | |
10 | g.86890217A>C | CA377447243 | BMPR1A | c.223A>C (p.Thr75Pro) | |
10 | g.86890217A>G | CA377447247 | BMPR1A | c.223A>G (p.Thr75Ala) | ClinVar dbSNP |
10 | g.86890217A>T | CA377447248 | BMPR1A | c.223A>T (p.Thr75Ser) | |
10 | g.86890218C>A | CA377447252 | BMPR1A | c.224C>A (p.Thr75Lys) | ClinVar dbSNP |
10 | g.86890218C= | CA1925706287 | BMPR1A | c.224C= (p.Thr75=) | |
10 | g.86890218C>G | CA377447255 | BMPR1A | c.224C>G (p.Thr75Arg) | |
10 | g.86890218C>T | CA377447258 | BMPR1A | c.224C>T (p.Thr75Ile) | ClinVar |
10 | g.86890219A= | CA1925706292 | BMPR1A | c.225A= (p.Thr75=) | |
10 | g.86890219A>C | CA470304608 | BMPR1A | c.225A>C (p.Thr75=) | |
10 | g.86890219A>G | CA470304609 | BMPR1A | c.225A>G (p.Thr75=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86890219A>T | CA470304613 | BMPR1A | c.225A>T (p.Thr75=) | ClinVar |
10 | g.86890220T>A | CA377447262 | BMPR1A | c.226T>A (p.Cys76Ser) |