Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.86899821_86899840delinsACAATAGAATGTTGTCGGAC | CA1925714649 | BMPR1A | c.361_380delinsACAATAGAATGTTGTCGGAC (p.Thr121=) | |
10 | g.86899826_86899844del | CA658797455 | BMPR1A | c.366_384del (p.Glu123TyrfsTer15) | ClinVar dbSNP |
10 | g.86899831G>A | CA168082 | BMPR1A | c.371G>A (p.Cys124Tyr) | ClinVar dbSNP |
10 | g.86899831G>C | CA377449431 | BMPR1A | c.371G>C (p.Cys124Ser) | |
10 | g.86899831G= | CA1925714679 | BMPR1A | c.371G= (p.Cys124=) | |
10 | g.86899831G>T | CA377449433 | BMPR1A | c.371G>T (p.Cys124Phe) | |
10 | g.86899831_86899832delinsGT | CA1925714681 | BMPR1A | c.371_372delinsGT (p.Cys124=) | |
10 | g.86899832T>A | CA377449434 | BMPR1A | c.372T>A (p.Cys124Ter) | |
10 | g.86899832T>C | CA5585497 | BMPR1A | c.372T>C (p.Cys124=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.86899832T>G | CA377449435 | BMPR1A | c.372T>G (p.Cys124Trp) | |
10 | g.86899832T= | CA1925714688 | BMPR1A | c.372T= (p.Cys124=) | |
10 | g.86899833del | CA915947537 | BMPR1A | c.373del (p.Cys125ValfsTer19) | ClinVar dbSNP |
10 | g.86899833T>A | CA377449436 | BMPR1A | c.373T>A (p.Cys125Ser) | |
10 | g.86899833T>C | CA377449437 | BMPR1A | c.373T>C (p.Cys125Arg) | |
10 | g.86899833T>G | CA377449439 | BMPR1A | c.373T>G (p.Cys125Gly) | ClinVar dbSNP |
10 | g.86899833T= | CA1925714694 | BMPR1A | c.373T= (p.Cys125=) | |
10 | g.86899833_86899834delinsTG | CA1925714696 | BMPR1A | c.373_374delinsTG (p.Cys125=) | |
10 | g.86899834del | CA913189648 | BMPR1A | c.374del (p.Cys125PhefsTer19) | ClinVar dbSNP |
10 | g.86899834G>A | CA377449443 | BMPR1A | c.374G>A (p.Cys125Tyr) | |
10 | g.86899834G>C | CA377449445 | BMPR1A | c.374G>C (p.Cys125Ser) | |
10 | g.86899834G>T | CA377449448 | BMPR1A | c.374G>T (p.Cys125Phe) | |
10 | g.86899835T>A | CA377449461 | BMPR1A | c.375T>A (p.Cys125Ter) | |
10 | g.86899835T>C | CA470306523 | BMPR1A | c.375T>C (p.Cys125=) | ClinVar dbSNP gnomAD v2 |
10 | g.86899835T>G | CA377449462 | BMPR1A | c.375T>G (p.Cys125Trp) | |
10 | g.86899835T= | CA1925714706 | BMPR1A | c.375T= (p.Cys125=) | |
10 | g.86899836C>A | CA470306528 | BMPR1A | c.376C>A (p.Arg126=) | gnomAD v4 |
10 | g.86899836C= | CA1925714719 | BMPR1A | c.376C= (p.Arg126=) | |
10 | g.86899836C>G | CA337281 | BMPR1A | c.376C>G (p.Arg126Gly) | ClinVar dbSNP |
10 | g.86899836C>T | CA5585498 | BMPR1A | c.376C>T (p.Arg126Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.86899837G>A | CA377449480 | BMPR1A | c.377G>A (p.Arg126Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86899837G>C | CA377449482 | BMPR1A | c.377G>C (p.Arg126Pro) | ClinVar dbSNP |
10 | g.86899837G= | CA1925714729 | BMPR1A | c.377G= (p.Arg126=) | |
10 | g.86899837G>T | CA350671 | BMPR1A | c.377G>T (p.Arg126Leu) | ClinVar dbSNP |
10 | g.86899838G>A | CA470306531 | BMPR1A | c.378G>A (p.Arg126=) | |
10 | g.86899838G>C | CA470306534 | BMPR1A | c.378G>C (p.Arg126=) | |
10 | g.86899838G>T | CA470306532 | BMPR1A | c.378G>T (p.Arg126=) | ClinVar |
10 | g.86899839A>C | CA377449486 | BMPR1A | c.379A>C (p.Thr127Pro) | ClinVar dbSNP |
10 | g.86899839A>G | CA377449489 | BMPR1A | c.379A>G (p.Thr127Ala) | COSMIC COSMIC |
10 | g.86899839A>T | CA377449491 | BMPR1A | c.379A>T (p.Thr127Ser) | ClinVar |
10 | g.86899840C>A | CA377449496 | BMPR1A | c.380C>A (p.Thr127Asn) | |
10 | g.86899840C>G | CA377449498 | BMPR1A | c.380C>G (p.Thr127Ser) | |
10 | g.86899840C>T | CA377449499 | BMPR1A | c.380C>T (p.Thr127Ile) | |
10 | g.86899841C>A | CA470306538 | BMPR1A | c.381C>A (p.Thr127=) | ClinVar |
10 | g.86899841C= | CA1925714737 | BMPR1A | c.381C= (p.Thr127=) | |
10 | g.86899841C>G | CA470306540 | BMPR1A | c.381C>G (p.Thr127=) | |
10 | g.86899841C>T | CA5585499 | BMPR1A | c.381C>T (p.Thr127=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86899842A>C | CA377449502 | BMPR1A | c.382A>C (p.Asn128His) | |
10 | g.86899842A>G | CA377449509 | BMPR1A | c.382A>G (p.Asn128Asp) | ClinVar dbSNP COSMIC COSMIC |
10 | g.86899842A>T | CA377449512 | BMPR1A | c.382A>T (p.Asn128Tyr) | |
10 | g.86899843A= | CA1925714741 | BMPR1A | c.383A= (p.Asn128=) |