Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.86890107A>C | CA377446456 | BMPR1A | c.113A>C (p.Asp38Ala) | |
10 | g.86890107A>G | CA377446458 | BMPR1A | c.113A>G (p.Asp38Gly) | |
10 | g.86890107A>T | CA377446461 | BMPR1A | c.113A>T (p.Asp38Val) | |
10 | g.86890107_86890108delinsGA | CA2580082071 | BMPR1A | c.113_114delinsGA (p.Asp38Gly) | ClinVar |
10 | g.86890108C>A | CA377446463 | BMPR1A | c.114C>A (p.Asp38Glu) | |
10 | g.86890108C= | CA1925705940 | BMPR1A | c.114C= (p.Asp38=) | |
10 | g.86890108C>G | CA211182733 | BMPR1A | c.114C>G (p.Asp38Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.86890108C>T | CA470304523 | BMPR1A | c.114C>T (p.Asp38=) | |
10 | g.86890109T>A | CA377446472 | BMPR1A | c.115T>A (p.Ser39Thr) | |
10 | g.86890109T>C | CA377446469 | BMPR1A | c.115T>C (p.Ser39Pro) | |
10 | g.86890109T>G | CA377446467 | BMPR1A | c.115T>G (p.Ser39Ala) | |
10 | g.86890109T= | CA1925705945 | BMPR1A | c.115T= (p.Ser39=) | |
10 | g.86890109_86890110insA | CA270829 | BMPR1A | c.115_116insA (p.Ser39TyrfsTer?) | ClinVar dbSNP |
10 | g.86890110C>A | CA377446479 | BMPR1A | c.116C>A (p.Ser39Tyr) | ClinVar dbSNP |
10 | g.86890110C= | CA1925705954 | BMPR1A | c.116C= (p.Ser39=) | |
10 | g.86890110C>G | CA377446482 | BMPR1A | c.116C>G (p.Ser39Cys) | |
10 | g.86890110C>T | CA10578873 | BMPR1A | c.116C>T (p.Ser39Phe) | ClinVar dbSNP |
10 | g.86890111del | CA2573053329 | BMPR1A | c.117del (p.Asp40ThrfsTer9) c.117del (p.Asp40ThrfsTer?) | ClinVar dbSNP |
10 | g.86890111C>A | CA470304525 | BMPR1A | c.117C>A (p.Ser39=) | |
10 | g.86890111C= | CA1925705964 | BMPR1A | c.117C= (p.Ser39=) | |
10 | g.86890111C>G | CA5585434 | BMPR1A | c.117C>G (p.Ser39=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86890111C>T | CA5585435 | BMPR1A | c.117C>T (p.Ser39=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
10 | g.86890112G>A | CA164691 | BMPR1A | c.118G>A (p.Asp40Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86890112G>C | CA377446492 | BMPR1A | c.118G>C (p.Asp40His) | ClinVar dbSNP |
10 | g.86890112G= | CA1925705971 | BMPR1A | c.118G= (p.Asp40=) | |
10 | g.86890112G>T | CA377446490 | BMPR1A | c.118G>T (p.Asp40Tyr) | ClinVar dbSNP |
10 | g.86890112dup | CA2573053330 | BMPR1A | c.118dup (p.Asp40GlyfsTer?) | ClinVar dbSNP |
10 | g.86890113A= | CA1925705978 | BMPR1A | c.119A= (p.Asp40=) | |
10 | g.86890113A>C | CA16612967 | BMPR1A | c.119A>C (p.Asp40Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.86890113A>G | CA377446498 | BMPR1A | c.119A>G (p.Asp40Gly) | ClinVar dbSNP gnomAD v4 |
10 | g.86890113A>T | CA377446506 | BMPR1A | c.119A>T (p.Asp40Val) | ClinVar dbSNP |
10 | g.86890114C>A | CA377446507 | BMPR1A | c.120C>A (p.Asp40Glu) | ClinVar dbSNP gnomAD v4 |
10 | g.86890114C= | CA1925705987 | BMPR1A | c.120C= (p.Asp40=) | |
10 | g.86890114C>G | CA377446508 | BMPR1A | c.120C>G (p.Asp40Glu) | |
10 | g.86890114C>T | CA470304526 | BMPR1A | c.120C>T (p.Asp40=) | |
10 | g.86890115C>A | CA377446512 | BMPR1A | c.121C>A (p.Gln41Lys) | |
10 | g.86890115C>G | CA377446513 | BMPR1A | c.121C>G (p.Gln41Glu) | |
10 | g.86890115C>T | CA377446515 | BMPR1A | c.121C>T (p.Gln41Ter) | ClinVar |
10 | g.86890122_86890131del | CA2580082076 | BMPR1A | c.128_137del (p.Lys43MetfsTer3) | ClinVar |
10 | g.86890116A= | CA1925705989 | BMPR1A | c.122A= (p.Gln41=) | |
10 | g.86890116A>C | CA377446518 | BMPR1A | c.122A>C (p.Gln41Pro) | |
10 | g.86890116A>G | CA377446521 | BMPR1A | c.122A>G (p.Gln41Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.86890116A>T | CA377446523 | BMPR1A | c.122A>T (p.Gln41Leu) | |
10 | g.86890117G>A | CA470304527 | BMPR1A | c.123G>A (p.Gln41=) | |
10 | g.86890117G>C | CA377446527 | BMPR1A | c.123G>C (p.Gln41His) | |
10 | g.86890117G>T | CA377446525 | BMPR1A | c.123G>T (p.Gln41His) | |
10 | g.86890118A= | CA1925705991 | BMPR1A | c.124A= (p.Lys42=) | |
10 | g.86890118A>C | CA377446530 | BMPR1A | c.124A>C (p.Lys42Gln) | |
10 | g.86890118A>G | CA195606 | BMPR1A | c.124A>G (p.Lys42Glu) | ClinVar dbSNP gnomAD v4 |
10 | g.86890118A>T | CA377446533 | BMPR1A | c.124A>T (p.Lys42Ter) |