Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.86917282_86917283del | CA915947543 | BMPR1A | c.824_825del (p.Thr275ArgfsTer11) | ClinVar dbSNP |
10 | g.86917282_86917284delinsCAG | CA1925725706 | BMPR1A | c.824_826delinsCAG (p.Thr275=) | |
10 | g.86917283A= | CA1925725707 | BMPR1A | c.825A= (p.Thr275=) | |
10 | g.86917283A>C | CA470308089 | BMPR1A | c.825A>C (p.Thr275=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.86917283A>G | CA470308090 | BMPR1A | c.825A>G (p.Thr275=) | |
10 | g.86917283A>T | CA470308091 | BMPR1A | c.825A>T (p.Thr275=) | |
10 | g.86917284_86917285del | CA166103 | BMPR1A | c.826_827del (p.Glu276AsnfsTer10) | ClinVar dbSNP |
10 | g.86917284G>A | CA377458514 | BMPR1A | c.826G>A (p.Glu276Lys) | |
10 | g.86917284G>C | CA377458522 | BMPR1A | c.826G>C (p.Glu276Gln) | |
10 | g.86917284G>T | CA377458549 | BMPR1A | c.826G>T (p.Glu276Ter) | |
10 | g.86917285A= | CA1925725708 | BMPR1A | c.827A= (p.Glu276=) | |
10 | g.86917285A>C | CA377458550 | BMPR1A | c.827A>C (p.Glu276Ala) | ClinVar dbSNP gnomAD v4 |
10 | g.86917285A>G | CA377458551 | BMPR1A | c.827A>G (p.Glu276Gly) | |
10 | g.86917285A>T | CA377458554 | BMPR1A | c.827A>T (p.Glu276Val) | |
10 | g.86917287del | CA2573145707 | BMPR1A | c.829del (p.Ile277SerfsTer6) | ClinVar dbSNP |
10 | g.86917286A= | CA1925725709 | BMPR1A | c.828A= (p.Glu276=) | |
10 | g.86917286A>C | CA377458561 | BMPR1A | c.828A>C (p.Glu276Asp) | |
10 | g.86917286A>G | CA470308092 | BMPR1A | c.828A>G (p.Glu276=) | ClinVar dbSNP gnomAD v4 |
10 | g.86917286A>T | CA377458564 | BMPR1A | c.828A>T (p.Glu276Asp) | |
10 | g.86917287A= | CA1925725710 | BMPR1A | c.829A= (p.Ile277=) | |
10 | g.86917287A>C | CA377458570 | BMPR1A | c.829A>C (p.Ile277Leu) | |
10 | g.86917287A>G | CA16612894 | BMPR1A | c.829A>G (p.Ile277Val) | ClinVar dbSNP |
10 | g.86917287A>T | CA377458582 | BMPR1A | c.829A>T (p.Ile277Phe) | |
10 | g.86917288T>A | CA377458594 | BMPR1A | c.830T>A (p.Ile277Asn) | ClinVar dbSNP |
10 | g.86917288T>C | CA377458590 | BMPR1A | c.830T>C (p.Ile277Thr) | |
10 | g.86917288T>G | CA377458593 | BMPR1A | c.830T>G (p.Ile277Ser) | |
10 | g.86917289C>A | CA10578887 | BMPR1A | c.831C>A (p.Ile277=) | ClinVar dbSNP gnomAD v4 |
10 | g.86917289C= | CA1925725711 | BMPR1A | c.831C= (p.Ile277=) | |
10 | g.86917289C>G | CA377458597 | BMPR1A | c.831C>G (p.Ile277Met) | |
10 | g.86917289C>T | CA470308093 | BMPR1A | c.831C>T (p.Ile277=) | |
10 | g.86917290T>A | CA377458603 | BMPR1A | c.832T>A (p.Tyr278Asn) | |
10 | g.86917290T>C | CA377458605 | BMPR1A | c.832T>C (p.Tyr278His) | |
10 | g.86917290T>G | CA377458611 | BMPR1A | c.832T>G (p.Tyr278Asp) | |
10 | g.86917291A>C | CA377458615 | BMPR1A | c.833A>C (p.Tyr278Ser) | |
10 | g.86917291A>G | CA377458617 | BMPR1A | c.833A>G (p.Tyr278Cys) | |
10 | g.86917291A>T | CA377458619 | BMPR1A | c.833A>T (p.Tyr278Phe) | |
10 | g.86917292C>A | CA377458622 | BMPR1A | c.834C>A (p.Tyr278Ter) | ClinVar dbSNP |
10 | g.86917292C= | CA1925725712 | BMPR1A | c.834C= (p.Tyr278=) | |
10 | g.86917292C>G | CA377458623 | BMPR1A | c.834C>G (p.Tyr278Ter) | ClinVar dbSNP |
10 | g.86917292C>T | CA470308094 | BMPR1A | c.834C>T (p.Tyr278=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.86917293dup | CA2573053343 | BMPR1A | c.835dup (p.Gln279ProfsTer8) | ClinVar dbSNP |
10 | g.86917293C>A | CA377458630 | BMPR1A | c.835C>A (p.Gln279Lys) | |
10 | g.86917293C>G | CA377458631 | BMPR1A | c.835C>G (p.Gln279Glu) | |
10 | g.86917293C>T | CA377458632 | BMPR1A | c.835C>T (p.Gln279Ter) | |
10 | g.86917294A= | CA1925725713 | BMPR1A | c.836A= (p.Gln279=) | |
10 | g.86917294A>C | CA377458641 | BMPR1A | c.836A>C (p.Gln279Pro) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.86917294A>G | CA377458645 | BMPR1A | c.836A>G (p.Gln279Arg) | |
10 | g.86917294A>T | CA377458636 | BMPR1A | c.836A>T (p.Gln279Leu) | |
10 | g.86917295A>C | CA377458659 | BMPR1A | c.837A>C (p.Gln279His) | |
10 | g.86917295A>G | CA470308095 | BMPR1A | c.837A>G (p.Gln279=) | gnomAD v3 gnomAD v4 |