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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.202515407_202524196del | CA915941641 | BMPR2 | c.621+428_967+3995del c.552+428_898+3995del | ClinVar |
| 2 | g.202518989_202518990delinsAG | CA1321539724 | BMPR2 | c.789_790delinsAG (p.Gly263=) c.720_721delinsAG (p.Gly240=) | |
| 2 | g.202518990del | CA645293816 | BMPR2 | c.790del (p.Asp264MetfsTer15) c.721del (p.Asp241MetfsTer15) | ClinVar dbSNP |
| 2 | g.202518990G>A | CA350340514 | BMPR2 | c.790G>A (p.Asp264Asn) c.721G>A (p.Asp241Asn) | |
| 2 | g.202518990G>C | CA350340515 | BMPR2 | c.790G>C (p.Asp264His) c.721G>C (p.Asp241His) | |
| 2 | g.202518990G>T | CA350340516 | BMPR2 | c.790G>T (p.Asp264Tyr) c.721G>T (p.Asp241Tyr) | |
| 2 | g.202518991A>C | CA350340517 | BMPR2 | c.791A>C (p.Asp264Ala) c.722A>C (p.Asp241Ala) | |
| 2 | g.202518991A>G | CA350340518 | BMPR2 | c.791A>G (p.Asp264Gly) c.722A>G (p.Asp241Gly) | |
| 2 | g.202518991A>T | CA350340519 | BMPR2 | c.791A>T (p.Asp264Val) c.722A>T (p.Asp241Val) | |
| 2 | g.202518992T>A | CA350340520 | BMPR2 | c.792T>A (p.Asp264Glu) c.723T>A (p.Asp241Glu) | |
| 2 | g.202518992T>C | CA2061206 | BMPR2 | c.792T>C (p.Asp264=) c.723T>C (p.Asp241=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.202518992T>G | CA350340521 | BMPR2 | c.792T>G (p.Asp264Glu) c.723T>G (p.Asp241Glu) | |
| 2 | g.202518992T= | CA1321539725 | BMPR2 | c.792T= (p.Asp264=) c.723T= (p.Asp241=) | |
| 2 | g.202518992_202518996delinsTGAGA | CA1321539726 | BMPR2 | c.792_796delinsTGAGA (p.Asp264=) c.723_727delinsTGAGA (p.Asp241=) | |
| 2 | g.202518993G>A | CA350340522 | BMPR2 | c.793G>A (p.Glu265Lys) c.724G>A (p.Glu242Lys) | dbSNP |
| 2 | g.202518993G>C | CA350340523 | BMPR2 | c.793G>C (p.Glu265Gln) c.724G>C (p.Glu242Gln) | |
| 2 | g.202518993G= | CA1321539727 | BMPR2 | c.793G= (p.Glu265=) c.724G= (p.Glu242=) | |
| 2 | g.202518993G>T | CA350340524 | BMPR2 | c.793G>T (p.Glu265Ter) c.724G>T (p.Glu242Ter) | ClinVar dbSNP |
| 2 | g.202518998_202518999dup | CA2697551481 | BMPR2 | c.798_799dup (p.Val267GlufsTer13) c.729_730dup (p.Val244GlufsTer13) | ClinVar |
| 2 | g.202518998_202518999del | CA645532630 | BMPR2 | c.798_799del (p.Arg266SerfsTer?) c.729_730del (p.Arg243SerfsTer?) | COSMIC |
| 2 | g.202518996_202518999del | CA645293817 | BMPR2 | c.796_799del (p.Arg266SerfsTer12) c.727_730del (p.Arg243SerfsTer12) | ClinVar dbSNP |
| 2 | g.202518994A= | CA1321539728 | BMPR2 | c.794A= (p.Glu265=) c.725A= (p.Glu242=) | |
| 2 | g.202518994A>C | CA350340526 | BMPR2 | c.794A>C (p.Glu265Ala) c.725A>C (p.Glu242Ala) | |
| 2 | g.202518994A>G | CA350340527 | BMPR2 | c.794A>G (p.Glu265Gly) c.725A>G (p.Glu242Gly) | ClinVar dbSNP |
| 2 | g.202518994A>T | CA350340525 | BMPR2 | c.794A>T (p.Glu265Val) c.725A>T (p.Glu242Val) | |
| 2 | g.202518995G>A | CA430839740 | BMPR2 | c.795G>A (p.Glu265=) c.726G>A (p.Glu242=) | |
| 2 | g.202518995G>C | CA350340529 | BMPR2 | c.795G>C (p.Glu265Asp) c.726G>C (p.Glu242Asp) | |
| 2 | g.202518995G>T | CA350340528 | BMPR2 | c.795G>T (p.Glu265Asp) c.726G>T (p.Glu242Asp) | |
| 2 | g.202518995_202518996delinsGA | CA1321539729 | BMPR2 | c.795_796delinsGA (p.Glu265=) c.726_727delinsGA (p.Glu242=) | |
| 2 | g.202518995_202518996delinsTT | CA645293818 | BMPR2 | c.795_796delinsTT (p.Glu265AspfsTer2) c.726_727delinsTT (p.Glu242AspfsTer2) | ClinVar dbSNP |
| 2 | g.202518996A>C | CA430839741 | BMPR2 | c.796A>C (p.Arg266=) c.727A>C (p.Arg243=) | |
| 2 | g.202518996A>G | CA350340530 | BMPR2 | c.796A>G (p.Arg266Gly) c.727A>G (p.Arg243Gly) | |
| 2 | g.202518996A>T | CA350340531 | BMPR2 | c.796A>T (p.Arg266Ter) c.727A>T (p.Arg243Ter) | |
| 2 | g.202518997G>A | CA350340532 | BMPR2 | c.797G>A (p.Arg266Lys) c.728G>A (p.Arg243Lys) | dbSNP |
| 2 | g.202518997G>C | CA320454 | BMPR2 | c.797G>C (p.Arg266Thr) c.728G>C (p.Arg243Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.202518997G= | CA1321539730 | BMPR2 | c.797G= (p.Arg266=) c.728G= (p.Arg243=) | |
| 2 | g.202518997G>T | CA350340533 | BMPR2 | c.797G>T (p.Arg266Ile) c.728G>T (p.Arg243Ile) | |
| 2 | g.202518998A= | CA1321539731 | BMPR2 | c.798A= (p.Arg266=) c.729A= (p.Arg243=) | |
| 2 | g.202518998A>C | CA350340534 | BMPR2 | c.798A>C (p.Arg266Ser) c.729A>C (p.Arg243Ser) | |
| 2 | g.202518998A>G | CA430839742 | BMPR2 | c.798A>G (p.Arg266=) c.729A>G (p.Arg243=) | |
| 2 | g.202518998A>T | CA2061207 | BMPR2 | c.798A>T (p.Arg266Ser) c.729A>T (p.Arg243Ser) | ClinVar dbSNP ExAC gnomAD v2 |
| 2 | g.202518999G>A | CA2061208 | BMPR2 | c.799G>A (p.Val267Ile) c.730G>A (p.Val244Ile) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 2 | g.202518999G>C | CA350340535 | BMPR2 | c.799G>C (p.Val267Leu) c.730G>C (p.Val244Leu) | |
| 2 | g.202518999G= | CA1321539732 | BMPR2 | c.799G= (p.Val267=) c.730G= (p.Val244=) | |
| 2 | g.202518999G>T | CA350340536 | BMPR2 | c.799G>T (p.Val267Phe) c.730G>T (p.Val244Phe) | |
| 2 | g.202519000T>A | CA350340539 | BMPR2 | c.800T>A (p.Val267Asp) c.731T>A (p.Val244Asp) | |
| 2 | g.202519000T>C | CA350340538 | BMPR2 | c.800T>C (p.Val267Ala) c.731T>C (p.Val244Ala) | |
| 2 | g.202519000T>G | CA350340537 | BMPR2 | c.800T>G (p.Val267Gly) c.731T>G (p.Val244Gly) | |
| 2 | g.202519001C>A | CA430839743 | BMPR2 | c.801C>A (p.Val267=) c.732C>A (p.Val244=) | |
| 2 | g.202519001C= | CA1321539733 | BMPR2 | c.801C= (p.Val267=) c.732C= (p.Val244=) |