Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.202461237_202467808del | CA915941492 | BMPR2 | c.77-3572_418+119del | ClinVar |
2 | g.202465115_202467788del | CA915941495 | BMPR2 | c.247+136_418+99del c.176+132_349+99del n.154+136_325+99del | ClinVar |
2 | g.202465783_202470694del | CA915941496 | BMPR2 | c.247+804_418+3005del c.176+800_349+3005del n.154+804_325+3005del | ClinVar |
2 | g.202466926_202467684delinsATTTGGTATAGACAAAAATGAAACCTTACTCTTGCTTTAATAATTCTTCGATTAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGCTCAGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCGGGAGGTGGAGATTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCGCCTCAATAAATAAATAAATAATTCTTAGATTAATCATGCAGTTAAACCTTTTTTGGTGGCCTTTTCCCCCCCATGAAATGTCTTTGGTATCCTTTACCATTTTTCTGTTTCTTAAAAATATGTTTCCTGTTGATTTGCAAAACTGTTTCATAGCTTACACGTACTCTCACATTTATTGAAATTACTGCTTAGTTTGTTGTTTTTCTCTTAGTTTTCTTTATCATATTGTCTCCTTTTTTGTATTCATATTGATTTATAGGATGTTGGTCTCACATTGGAGATCCCCAAGAGTGTCACTATGAAGAATGTGTAGTAACTACCACTCCTCCCTCAATTCAGAATGGAACATACCGTTTCTGCTGTTGTAGCACAGATTTATGTAATGTCAACTTTACTGAGAATTTTCCACCTCCTGACACAACACC | CA1321509919 | BMPR2 | c.248-593_413delinsATTTGGTATAGACAAAAATGAAACCTTACTCTTGCTTTAATAATTCTTCGATTAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGCTCAGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCGGGAGGTGGAGATTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCGCCTCAATAAATAAATAAATAATTCTTAGATTAATCATGCAGTTAAACCTTTTTTGGTGGCCTTTTCCCCCCCATGAAATGTCTTTGGTATCCTTTACCATTTTTCTGTTTCTTAAAAATATGTTTCCTGTTGATTTGCAAAACTGTTTCATAGCTTACACGTACTCTCACATTTATTGAAATTACTGCTTAGTTTGTTGTTTTTCTCTTAGTTTTCTTTATCATATTGTCTCCTTTTTTGTATTCATATTGATTTATAGGATGTTGGTCTCACATTGGAGATCCCCAAGAGTGTCACTATGAAGAATGTGTAGTAACTACCACTCCTCCCTCAATTCAGAATGGAACATACCGTTTCTGCTGTTGTAGCACAGATTTATGTAATGTCAACTTTACTGAGAATTTTCCACCTCCTGACACAACACC c.177-127_344delinsATTTGGTATAGACAAAAATGAAACCTTACTCTTGCTTTAATAATTCTTCGATTAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGCTCAGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCGGGAGGTGGAGATTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCGCCTCAATAAATAAATAAATAATTCTTAGATTAATCATGCAGTTAAACCTTTTTTGGTGGCCTTTTCCCCCCCATGAAATGTCTTTGGTATCCTTTACCATTTTTCTGTTTCTTAAAAATATGTTTCCTGTTGATTTGCAAAACTGTTTCATAGCTTACACGTACTCTCACATTTATTGAAATTACTGCTTAGTTTGTTGTTTTTCTCTTAGTTTTCTTTATCATATTGTCTCCTTTTTTGTATTCATATTGATTTATAGGATGTTGGTCTCACATTGGAGATCCCCAAGAGTGTCACTATGAAGAATGTGTAGTAACTACCACTCCTCCCTCAATTCAGAATGGAACATACCGTTTCTGCTGTTGTAGCACAGATTTATGTAATGTCAACTTTACTGAGAATTTTCCACCTCCTGACACAACACC n.155-593_320delinsATTTGGTATAGACAAAAATGAAACCTTACTCTTGCTTTAATAATTCTTCGATTAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGCTCAGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCGGGAGGTGGAGATTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCGCCTCAATAAATAAATAAATAATTCTTAGATTAATCATGCAGTTAAACCTTTTTTGGTGGCCTTTTCCCCCCCATGAAATGTCTTTGGTATCCTTTACCATTTTTCTGTTTCTTAAAAATATGTTTCCTGTTGATTTGCAAAACTGTTTCATAGCTTACACGTACTCTCACATTTATTGAAATTACTGCTTAGTTTGTTGTTTTTCTCTTAGTTTTCTTTATCATATTGTCTCCTTTTTTGTATTCATATTGATTTATAGGATGTTGGTCTCACATTGGAGATCCCCAAGAGTGTCACTATGAAGAATGTGTAGTAACTACCACTCCTCCCTCAATTCAGAATGGAACATACCGTTTCTGCTGTTGTAGCACAGATTTATGTAATGTCAACTTTACTGAGAATTTTCCACCTCCTGACACAACACC | |
2 | g.202466927_202467684delinsGTAAAGTA | CA645293853 | BMPR2 | c.248-592_413delinsGTAAAGTA c.177-126_344delinsGTAAAGTA n.155-592_320delinsGTAAAGTA | ClinVar dbSNP |
2 | g.202467558_202467559del | CA2586965550 | BMPR2 | c.287_288del (p.Tyr96Ter) c.218_219del (p.Tyr73Ter) n.194_195del | |
2 | g.202467558A= | CA1321510498 | BMPR2 | c.287A= (p.Tyr96=) c.218A= (p.Tyr73=) n.194A= | |
2 | g.202467558A>C | CA350399594 | BMPR2 | c.287A>C (p.Tyr96Ser) c.218A>C (p.Tyr73Ser) n.194A>C | |
2 | g.202467558A>G | CA350399595 | BMPR2 | c.287A>G (p.Tyr96Cys) c.218A>G (p.Tyr73Cys) n.194A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202467558A>T | CA350399596 | BMPR2 | c.287A>T (p.Tyr96Phe) c.218A>T (p.Tyr73Phe) n.194A>T | gnomAD v4 |
2 | g.202467559T>A | CA350399597 | BMPR2 | c.288T>A (p.Tyr96Ter) c.219T>A (p.Tyr73Ter) n.195T>A | |
2 | g.202467559T>C | CA2061082 | BMPR2 | c.288T>C (p.Tyr96=) c.219T>C (p.Tyr73=) n.195T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202467559T>G | CA350399598 | BMPR2 | c.288T>G (p.Tyr96Ter) c.219T>G (p.Tyr73Ter) n.195T>G | ClinVar dbSNP |
2 | g.202467559T= | CA1321510501 | BMPR2 | c.288T= (p.Tyr96=) c.219T= (p.Tyr73=) n.195T= | |
2 | g.202467560G>A | CA350399599 | BMPR2 | c.289G>A (p.Glu97Lys) c.220G>A (p.Glu74Lys) n.196G>A | gnomAD v4 |
2 | g.202467560G>C | CA350399600 | BMPR2 | c.289G>C (p.Glu97Gln) c.220G>C (p.Glu74Gln) n.196G>C | |
2 | g.202467560G>T | CA350399601 | BMPR2 | c.289G>T (p.Glu97Ter) c.220G>T (p.Glu74Ter) n.196G>T | |
2 | g.202467561A>C | CA350399602 | BMPR2 | c.290A>C (p.Glu97Ala) c.221A>C (p.Glu74Ala) n.197A>C | |
2 | g.202467561A>G | CA350399603 | BMPR2 | c.290A>G (p.Glu97Gly) c.221A>G (p.Glu74Gly) n.197A>G | |
2 | g.202467561A>T | CA350399604 | BMPR2 | c.290A>T (p.Glu97Val) c.221A>T (p.Glu74Val) n.197A>T | |
2 | g.202467562A>C | CA350399606 | BMPR2 | c.291A>C (p.Glu97Asp) c.222A>C (p.Glu74Asp) n.198A>C | |
2 | g.202467562A>G | CA430903802 | BMPR2 | c.291A>G (p.Glu97=) c.222A>G (p.Glu74=) n.198A>G | |
2 | g.202467562A>T | CA350399605 | BMPR2 | c.291A>T (p.Glu97Asp) c.222A>T (p.Glu74Asp) n.198A>T | |
2 | g.202467563G>A | CA350399607 | BMPR2 | c.292G>A (p.Glu98Lys) c.223G>A (p.Glu75Lys) n.199G>A | ClinVar dbSNP |
2 | g.202467563G>C | CA350399608 | BMPR2 | c.292G>C (p.Glu98Gln) c.223G>C (p.Glu75Gln) n.199G>C | |
2 | g.202467563G= | CA1321510508 | BMPR2 | c.292G= (p.Glu98=) c.223G= (p.Glu75=) n.199G= | |
2 | g.202467563G>T | CA350399609 | BMPR2 | c.292G>T (p.Glu98Ter) c.223G>T (p.Glu75Ter) n.199G>T | ClinVar dbSNP |
2 | g.202467564A= | CA1321510517 | BMPR2 | c.293A= (p.Glu98=) c.224A= (p.Glu75=) n.200A= | |
2 | g.202467564A>C | CA350399610 | BMPR2 | c.293A>C (p.Glu98Ala) c.224A>C (p.Glu75Ala) n.200A>C | |
2 | g.202467564A>G | CA2061083 | BMPR2 | c.293A>G (p.Glu98Gly) c.224A>G (p.Glu75Gly) n.200A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202467564A>T | CA350399611 | BMPR2 | c.293A>T (p.Glu98Val) c.224A>T (p.Glu75Val) n.200A>T | |
2 | g.202467565A= | CA1321510519 | BMPR2 | c.294A= (p.Glu98=) c.225A= (p.Glu75=) n.201A= | |
2 | g.202467565A>C | CA350399612 | BMPR2 | c.294A>C (p.Glu98Asp) c.225A>C (p.Glu75Asp) n.201A>C | |
2 | g.202467565A>G | CA430903803 | BMPR2 | c.294A>G (p.Glu98=) c.225A>G (p.Glu75=) n.201A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202467565A>T | CA350399613 | BMPR2 | c.294A>T (p.Glu98Asp) c.225A>T (p.Glu75Asp) n.201A>T | |
2 | g.202467566T>A | CA350399614 | BMPR2 | c.295T>A (p.Cys99Ser) c.226T>A (p.Cys76Ser) n.202T>A | |
2 | g.202467566T>C | CA320754 | BMPR2 | c.295T>C (p.Cys99Arg) c.226T>C (p.Cys76Arg) n.202T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.202467566T>G | CA350399615 | BMPR2 | c.295T>G (p.Cys99Gly) c.226T>G (p.Cys76Gly) n.202T>G | |
2 | g.202467566T= | CA1321510523 | BMPR2 | c.295T= (p.Cys99=) c.226T= (p.Cys76=) n.202T= | |
2 | g.202467567G>A | CA350399616 | BMPR2 | c.296G>A (p.Cys99Tyr) c.227G>A (p.Cys76Tyr) n.203G>A | ClinVar dbSNP |
2 | g.202467567G>C | CA350399617 | BMPR2 | c.296G>C (p.Cys99Ser) c.227G>C (p.Cys76Ser) n.203G>C | |
2 | g.202467567G= | CA1321510529 | BMPR2 | c.296G= (p.Cys99=) c.227G= (p.Cys76=) n.203G= | |
2 | g.202467567G>T | CA350399618 | BMPR2 | c.296G>T (p.Cys99Phe) c.227G>T (p.Cys76Phe) n.203G>T | ClinVar dbSNP |
2 | g.202467568T>A | CA350399619 | BMPR2 | c.297T>A (p.Cys99Ter) c.228T>A (p.Cys76Ter) n.204T>A | |
2 | g.202467568T>C | CA430903804 | BMPR2 | c.297T>C (p.Cys99=) c.228T>C (p.Cys76=) n.204T>C | |
2 | g.202467568T>G | CA350399620 | BMPR2 | c.297T>G (p.Cys99Trp) c.228T>G (p.Cys76Trp) n.204T>G | ClinVar dbSNP |
2 | g.202467569G>A | CA350399621 | BMPR2 | c.298G>A (p.Val100Ile) c.229G>A (p.Val77Ile) n.205G>A | |
2 | g.202467569G>C | CA350399622 | BMPR2 | c.298G>C (p.Val100Leu) c.229G>C (p.Val77Leu) n.205G>C | |
2 | g.202467569G>T | CA350399623 | BMPR2 | c.298G>T (p.Val100Leu) c.229G>T (p.Val77Leu) n.205G>T | |
2 | g.202467570T>A | CA350399624 | BMPR2 | c.299T>A (p.Val100Glu) c.230T>A (p.Val77Glu) n.206T>A | |
2 | g.202467570T>C | CA350399625 | BMPR2 | c.299T>C (p.Val100Ala) c.230T>C (p.Val77Ala) n.206T>C | |
2 | g.202467570T>G | CA350399626 | BMPR2 | c.299T>G (p.Val100Gly) c.230T>G (p.Val77Gly) n.206T>G | |
2 | g.202467571A>C | CA430903805 | BMPR2 | c.300A>C (p.Val100=) c.231A>C (p.Val77=) n.207A>C | |
2 | g.202467571A>G | CA430903807 | BMPR2 | c.300A>G (p.Val100=) c.231A>G (p.Val77=) n.207A>G | gnomAD v4 |
2 | g.202467571A>T | CA430903808 | BMPR2 | c.300A>T (p.Val100=) c.231A>T (p.Val77=) n.207A>T | |
2 | g.202467572G>A | CA350399627 | BMPR2 | c.301G>A (p.Val101Ile) c.232G>A (p.Val78Ile) n.208G>A | |
2 | g.202467572G>C | CA350399628 | BMPR2 | c.301G>C (p.Val101Leu) c.232G>C (p.Val78Leu) n.208G>C | |
2 | g.202467572G>T | CA350399629 | BMPR2 | c.301G>T (p.Val101Leu) c.232G>T (p.Val78Leu) n.208G>T | |
2 | g.202467573T>A | CA350399630 | BMPR2 | c.302T>A (p.Val101Glu) c.233T>A (p.Val78Glu) n.209T>A | |
2 | g.202467573T>C | CA2061084 | BMPR2 | c.302T>C (p.Val101Ala) c.233T>C (p.Val78Ala) n.209T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202467573T>G | CA350399631 | BMPR2 | c.302T>G (p.Val101Gly) c.233T>G (p.Val78Gly) n.209T>G | |
2 | g.202467573T= | CA1321510536 | BMPR2 | c.302T= (p.Val101=) c.233T= (p.Val78=) n.209T= | |
2 | g.202467574A>C | CA430903810 | BMPR2 | c.303A>C (p.Val101=) c.234A>C (p.Val78=) n.210A>C | |
2 | g.202467574A>G | CA430903811 | BMPR2 | c.303A>G (p.Val101=) c.234A>G (p.Val78=) n.210A>G | |
2 | g.202467574A>T | CA430903812 | BMPR2 | c.303A>T (p.Val101=) c.234A>T (p.Val78=) n.210A>T | |
2 | g.202467574_202467577delinsAACT | CA1321510538 | BMPR2 | c.303_306delinsAACT (p.Val101=) c.234_237delinsAACT (p.Val78=) n.210_213delinsAACT | |
2 | g.202467575A= | CA1321510542 | BMPR2 | c.304A= (p.Thr102=) c.235A= (p.Thr79=) n.211A= | |
2 | g.202467575A>C | CA350399633 | BMPR2 | c.304A>C (p.Thr102Pro) c.235A>C (p.Thr79Pro) n.211A>C | |
2 | g.202467575A>G | CA350399632 | BMPR2 | c.304A>G (p.Thr102Ala) c.235A>G (p.Thr79Ala) n.211A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.202467575A>T | CA350399634 | BMPR2 | c.304A>T (p.Thr102Ser) c.235A>T (p.Thr79Ser) n.211A>T | |
2 | g.202467577_202467579del | CA2061085 | BMPR2 | c.306_308del (p.Thr103del) c.237_239del (p.Thr80del) n.213_215del | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202467576C>A | CA350399637 | BMPR2 | c.305C>A (p.Thr102Asn) c.236C>A (p.Thr79Asn) n.212C>A | |
2 | g.202467576C>G | CA350399635 | BMPR2 | c.305C>G (p.Thr102Ser) c.236C>G (p.Thr79Ser) n.212C>G | |
2 | g.202467576C>T | CA350399636 | BMPR2 | c.305C>T (p.Thr102Ile) c.236C>T (p.Thr79Ile) n.212C>T | |
2 | g.202467577T>A | CA430903814 | BMPR2 | c.306T>A (p.Thr102=) c.237T>A (p.Thr79=) n.213T>A | |
2 | g.202467577T>C | CA430903815 | BMPR2 | c.306T>C (p.Thr102=) c.237T>C (p.Thr79=) n.213T>C | |
2 | g.202467577T>G | CA430903816 | BMPR2 | c.306T>G (p.Thr102=) c.237T>G (p.Thr79=) n.213T>G | |
2 | g.202467578A= | CA1321510545 | BMPR2 | c.307A= (p.Thr103=) c.238A= (p.Thr80=) n.214A= | |
2 | g.202467578A>C | CA350399638 | BMPR2 | c.307A>C (p.Thr103Pro) c.238A>C (p.Thr80Pro) n.214A>C | |
2 | g.202467578A>G | CA350399639 | BMPR2 | c.307A>G (p.Thr103Ala) c.238A>G (p.Thr80Ala) n.214A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202467578A>T | CA350399640 | BMPR2 | c.307A>T (p.Thr103Ser) c.238A>T (p.Thr80Ser) n.214A>T | |
2 | g.202467579C>A | CA350399642 | BMPR2 | c.308C>A (p.Thr103Asn) c.239C>A (p.Thr80Asn) n.215C>A | |
2 | g.202467579C= | CA1321510550 | BMPR2 | c.308C= (p.Thr103=) c.239C= (p.Thr80=) n.215C= | |
2 | g.202467579C>G | CA350399641 | BMPR2 | c.308C>G (p.Thr103Ser) c.239C>G (p.Thr80Ser) n.215C>G | gnomAD v4 |
2 | g.202467579C>T | CA2061086 | BMPR2 | c.308C>T (p.Thr103Ile) c.239C>T (p.Thr80Ile) n.215C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202467580C>A | CA430903819 | BMPR2 | c.309C>A (p.Thr103=) c.240C>A (p.Thr80=) n.216C>A | |
2 | g.202467580C>G | CA430903818 | BMPR2 | c.309C>G (p.Thr103=) c.240C>G (p.Thr80=) n.216C>G | |
2 | g.202467580C>T | CA430903817 | BMPR2 | c.309C>T (p.Thr103=) c.240C>T (p.Thr80=) n.216C>T | |
2 | g.202467581A= | CA1321510553 | BMPR2 | c.310A= (p.Thr104=) c.241A= (p.Thr81=) n.217A= | |
2 | g.202467581A>C | CA2061087 | BMPR2 | c.310A>C (p.Thr104Pro) c.241A>C (p.Thr81Pro) n.217A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202467581A>G | CA350399643 | BMPR2 | c.310A>G (p.Thr104Ala) c.241A>G (p.Thr81Ala) n.217A>G | gnomAD v4 |
2 | g.202467581A>T | CA350399644 | BMPR2 | c.310A>T (p.Thr104Ser) c.241A>T (p.Thr81Ser) n.217A>T | gnomAD v4 |
2 | g.202467582C>A | CA350399645 | BMPR2 | c.311C>A (p.Thr104Asn) c.242C>A (p.Thr81Asn) n.218C>A | |
2 | g.202467582C>G | CA350399646 | BMPR2 | c.311C>G (p.Thr104Ser) c.242C>G (p.Thr81Ser) n.218C>G | gnomAD v4 |
2 | g.202467582C>T | CA350399647 | BMPR2 | c.311C>T (p.Thr104Ile) c.242C>T (p.Thr81Ile) n.218C>T | |
2 | g.202467583T>A | CA430903820 | BMPR2 | c.312T>A (p.Thr104=) c.243T>A (p.Thr81=) n.219T>A | dbSNP |
2 | g.202467583T>C | CA430903822 | BMPR2 | c.312T>C (p.Thr104=) c.243T>C (p.Thr81=) n.219T>C | |
2 | g.202467583T>G | CA430903821 | BMPR2 | c.312T>G (p.Thr104=) c.243T>G (p.Thr81=) n.219T>G | gnomAD v4 |
2 | g.202467583T= | CA1321510559 | BMPR2 | c.312T= (p.Thr104=) c.243T= (p.Thr81=) n.219T= | |
2 | g.202467583_202467584delinsTC | CA1321510560 | BMPR2 | c.312_313delinsTC (p.Thr104=) c.243_244delinsTC (p.Thr81=) n.219_220delinsTC | |
2 | g.202467584C>A | CA350399649 | BMPR2 | c.313C>A (p.Pro105Thr) c.244C>A (p.Pro82Thr) n.220C>A | |
2 | g.202467584C= | CA1321510565 | BMPR2 | c.313C= (p.Pro105=) c.244C= (p.Pro82=) n.220C= | |
2 | g.202467584C>G | CA2061088 | BMPR2 | c.313C>G (p.Pro105Ala) c.244C>G (p.Pro82Ala) n.220C>G | dbSNP ExAC gnomAD v2 |
2 | g.202467584C>T | CA350399648 | BMPR2 | c.313C>T (p.Pro105Ser) c.244C>T (p.Pro82Ser) n.220C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202467585del | CA915941499 | BMPR2 | c.314del (p.Pro105LeufsTer?) c.245del (p.Pro82LeufsTer?) n.221del | ClinVar dbSNP gnomAD v4 |
2 | g.202467585C>A | CA350399650 | BMPR2 | c.314C>A (p.Pro105His) c.245C>A (p.Pro82His) n.221C>A | |
2 | g.202467585C>G | CA350399651 | BMPR2 | c.314C>G (p.Pro105Arg) c.245C>G (p.Pro82Arg) n.221C>G | |
2 | g.202467585C>T | CA350399652 | BMPR2 | c.314C>T (p.Pro105Leu) c.245C>T (p.Pro82Leu) n.221C>T | |
2 | g.202467586T>A | CA430903823 | BMPR2 | c.315T>A (p.Pro105=) c.246T>A (p.Pro82=) n.222T>A | |
2 | g.202467586T>C | CA430903824 | BMPR2 | c.315T>C (p.Pro105=) c.246T>C (p.Pro82=) n.222T>C | |
2 | g.202467586T>G | CA430903825 | BMPR2 | c.315T>G (p.Pro105=) c.246T>G (p.Pro82=) n.222T>G | |
2 | g.202467587C>A | CA350399653 | BMPR2 | c.316C>A (p.Pro106Thr) c.247C>A (p.Pro83Thr) n.223C>A | |
2 | g.202467587C>G | CA350399654 | BMPR2 | c.316C>G (p.Pro106Ala) c.247C>G (p.Pro83Ala) n.223C>G | |
2 | g.202467587C>T | CA350399655 | BMPR2 | c.316C>T (p.Pro106Ser) c.247C>T (p.Pro83Ser) n.223C>T | gnomAD v4 |
2 | g.202467589del | CA2577215519 | BMPR2 | c.318del (p.Ser107GlnfsTer?) c.249del (p.Ser84GlnfsTer?) n.225del | |
2 | g.202467588C>A | CA350399656 | BMPR2 | c.317C>A (p.Pro106His) c.248C>A (p.Pro83His) n.224C>A | |
2 | g.202467588C= | CA1321510569 | BMPR2 | c.317C= (p.Pro106=) c.248C= (p.Pro83=) n.224C= | |
2 | g.202467588C>G | CA350399657 | BMPR2 | c.317C>G (p.Pro106Arg) c.248C>G (p.Pro83Arg) n.224C>G | |
2 | g.202467588C>T | CA2061089 | BMPR2 | c.317C>T (p.Pro106Leu) c.248C>T (p.Pro83Leu) n.224C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202467589C>A | CA430903826 | BMPR2 | c.318C>A (p.Pro106=) c.249C>A (p.Pro83=) n.225C>A | gnomAD v4 |
2 | g.202467589C>G | CA430903827 | BMPR2 | c.318C>G (p.Pro106=) c.249C>G (p.Pro83=) n.225C>G | |
2 | g.202467589C>T | CA430903828 | BMPR2 | c.318C>T (p.Pro106=) c.249C>T (p.Pro83=) n.225C>T | |
2 | g.202467590T>A | CA350399658 | BMPR2 | c.319T>A (p.Ser107Thr) c.250T>A (p.Ser84Thr) n.226T>A | |
2 | g.202467590T>C | CA350399659 | BMPR2 | c.319T>C (p.Ser107Pro) c.250T>C (p.Ser84Pro) n.226T>C | ClinVar dbSNP |
2 | g.202467590T>G | CA350399660 | BMPR2 | c.319T>G (p.Ser107Ala) c.250T>G (p.Ser84Ala) n.226T>G | |
2 | g.202467590T= | CA1321510573 | BMPR2 | c.319T= (p.Ser107=) c.250T= (p.Ser84=) n.226T= | |
2 | g.202467591C>A | CA350399661 | BMPR2 | c.320C>A (p.Ser107Ter) c.251C>A (p.Ser84Ter) n.227C>A | ClinVar dbSNP gnomAD v4 |
2 | g.202467591C= | CA1321510576 | BMPR2 | c.320C= (p.Ser107=) c.251C= (p.Ser84=) n.227C= | |
2 | g.202467591C>G | CA350399663 | BMPR2 | c.320C>G (p.Ser107Ter) c.251C>G (p.Ser84Ter) n.227C>G | ClinVar dbSNP |
2 | g.202467591C>T | CA350399662 | BMPR2 | c.320C>T (p.Ser107Leu) c.251C>T (p.Ser84Leu) n.227C>T | dbSNP gnomAD v4 |
2 | g.202467592A>C | CA430903829 | BMPR2 | c.321A>C (p.Ser107=) c.252A>C (p.Ser84=) n.228A>C | |
2 | g.202467592A>G | CA430903830 | BMPR2 | c.321A>G (p.Ser107=) c.252A>G (p.Ser84=) n.228A>G | |
2 | g.202467592A>T | CA430903831 | BMPR2 | c.321A>T (p.Ser107=) c.252A>T (p.Ser84=) n.228A>T | |
2 | g.202467593A= | CA1321510579 | BMPR2 | c.322A= (p.Ile108=) c.253A= (p.Ile85=) n.229A= | |
2 | g.202467593A>C | CA350399664 | BMPR2 | c.322A>C (p.Ile108Leu) c.253A>C (p.Ile85Leu) n.229A>C | |
2 | g.202467593A>G | CA2061090 | BMPR2 | c.322A>G (p.Ile108Val) c.253A>G (p.Ile85Val) n.229A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202467593A>T | CA350399665 | BMPR2 | c.322A>T (p.Ile108Phe) c.253A>T (p.Ile85Phe) n.229A>T | gnomAD v4 |
2 | g.202467594T>A | CA350399666 | BMPR2 | c.323T>A (p.Ile108Asn) c.254T>A (p.Ile85Asn) n.230T>A | |
2 | g.202467594T>C | CA2061091 | BMPR2 | c.323T>C (p.Ile108Thr) c.254T>C (p.Ile85Thr) n.230T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202467594T>G | CA350399667 | BMPR2 | c.323T>G (p.Ile108Ser) c.254T>G (p.Ile85Ser) n.230T>G | |
2 | g.202467594T= | CA1321510582 | BMPR2 | c.323T= (p.Ile108=) c.254T= (p.Ile85=) n.230T= | |
2 | g.202467595T>A | CA430903832 | BMPR2 | c.324T>A (p.Ile108=) c.255T>A (p.Ile85=) n.231T>A | |
2 | g.202467595T>C | CA430903833 | BMPR2 | c.324T>C (p.Ile108=) c.255T>C (p.Ile85=) n.231T>C | |
2 | g.202467595T>G | CA350399668 | BMPR2 | c.324T>G (p.Ile108Met) c.255T>G (p.Ile85Met) n.231T>G | |
2 | g.202467596C>A | CA350399669 | BMPR2 | c.325C>A (p.Gln109Lys) c.256C>A (p.Gln86Lys) n.232C>A | dbSNP |
2 | g.202467596C= | CA1321510585 | BMPR2 | c.325C= (p.Gln109=) c.256C= (p.Gln86=) n.232C= | |
2 | g.202467596C>G | CA350399670 | BMPR2 | c.325C>G (p.Gln109Glu) c.256C>G (p.Gln86Glu) n.232C>G | |
2 | g.202467596C>T | CA350399671 | BMPR2 | c.325C>T (p.Gln109Ter) c.256C>T (p.Gln86Ter) n.232C>T | |
2 | g.202467597A>C | CA350399672 | BMPR2 | c.326A>C (p.Gln109Pro) c.257A>C (p.Gln86Pro) n.233A>C | |
2 | g.202467597A>G | CA350399673 | BMPR2 | c.326A>G (p.Gln109Arg) c.257A>G (p.Gln86Arg) n.233A>G | |
2 | g.202467597A>T | CA350399674 | BMPR2 | c.326A>T (p.Gln109Leu) c.257A>T (p.Gln86Leu) n.233A>T | |
2 | g.202467598G>A | CA64532512 | BMPR2 | c.327G>A (p.Gln109=) c.258G>A (p.Gln86=) n.234G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.202467598G>C | CA350399675 | BMPR2 | c.327G>C (p.Gln109His) c.258G>C (p.Gln86His) n.234G>C | |
2 | g.202467598G= | CA1321510587 | BMPR2 | c.327G= (p.Gln109=) c.258G= (p.Gln86=) n.234G= | |
2 | g.202467598G>T | CA350399676 | BMPR2 | c.327G>T (p.Gln109His) c.258G>T (p.Gln86His) n.234G>T | |
2 | g.202467599A>C | CA350399677 | BMPR2 | c.328A>C (p.Asn110His) c.259A>C (p.Asn87His) n.235A>C | |
2 | g.202467599A>G | CA350399678 | BMPR2 | c.328A>G (p.Asn110Asp) c.259A>G (p.Asn87Asp) n.235A>G | |
2 | g.202467599A>T | CA350399679 | BMPR2 | c.328A>T (p.Asn110Tyr) c.259A>T (p.Asn87Tyr) n.235A>T | |
2 | g.202467600A= | CA1321510592 | BMPR2 | c.329A= (p.Asn110=) c.260A= (p.Asn87=) n.236A= | |
2 | g.202467600A>C | CA350399680 | BMPR2 | c.329A>C (p.Asn110Thr) c.260A>C (p.Asn87Thr) n.236A>C | |
2 | g.202467600A>G | CA350399681 | BMPR2 | c.329A>G (p.Asn110Ser) c.260A>G (p.Asn87Ser) n.236A>G | dbSNP gnomAD v4 |
2 | g.202467600A>T | CA350399682 | BMPR2 | c.329A>T (p.Asn110Ile) c.260A>T (p.Asn87Ile) n.236A>T | |
2 | g.202467601T>A | CA350399683 | BMPR2 | c.330T>A (p.Asn110Lys) c.261T>A (p.Asn87Lys) n.237T>A | |
2 | g.202467601T>C | CA430903834 | BMPR2 | c.330T>C (p.Asn110=) c.261T>C (p.Asn87=) n.237T>C | |
2 | g.202467601T>G | CA350399684 | BMPR2 | c.330T>G (p.Asn110Lys) c.261T>G (p.Asn87Lys) n.237T>G | |
2 | g.202467602G>A | CA350399685 | BMPR2 | c.331G>A (p.Gly111Arg) c.262G>A (p.Gly88Arg) n.238G>A | |
2 | g.202467602G>C | CA350399686 | BMPR2 | c.331G>C (p.Gly111Arg) c.262G>C (p.Gly88Arg) n.238G>C | |
2 | g.202467602G>T | CA350399687 | BMPR2 | c.331G>T (p.Gly111Ter) c.262G>T (p.Gly88Ter) n.238G>T | |
2 | g.202467603G>A | CA350399689 | BMPR2 | c.332G>A (p.Gly111Glu) c.263G>A (p.Gly88Glu) n.239G>A | |
2 | g.202467603G>C | CA350399690 | BMPR2 | c.332G>C (p.Gly111Ala) c.263G>C (p.Gly88Ala) n.239G>C | |
2 | g.202467603G= | CA1321510596 | BMPR2 | c.332G= (p.Gly111=) c.263G= (p.Gly88=) n.239G= | |
2 | g.202467603G>T | CA350399688 | BMPR2 | c.332G>T (p.Gly111Val) c.263G>T (p.Gly88Val) n.239G>T | dbSNP gnomAD v2 |
2 | g.202467604A>C | CA430903835 | BMPR2 | c.333A>C (p.Gly111=) c.264A>C (p.Gly88=) n.240A>C | |
2 | g.202467604A>G | CA430903836 | BMPR2 | c.333A>G (p.Gly111=) c.264A>G (p.Gly88=) n.240A>G | |
2 | g.202467604A>T | CA430903837 | BMPR2 | c.333A>T (p.Gly111=) c.264A>T (p.Gly88=) n.240A>T | |
2 | g.202467605A>C | CA350399693 | BMPR2 | c.334A>C (p.Thr112Pro) c.265A>C (p.Thr89Pro) n.241A>C | |
2 | g.202467605A>G | CA350399691 | BMPR2 | c.334A>G (p.Thr112Ala) c.265A>G (p.Thr89Ala) n.241A>G | gnomAD v4 |
2 | g.202467605A>T | CA350399692 | BMPR2 | c.334A>T (p.Thr112Ser) c.265A>T (p.Thr89Ser) n.241A>T | |
2 | g.202467606C>A | CA350399694 | BMPR2 | c.335C>A (p.Thr112Lys) c.266C>A (p.Thr89Lys) n.242C>A | ClinVar dbSNP gnomAD v4 |
2 | g.202467606C>G | CA350399695 | BMPR2 | c.335C>G (p.Thr112Arg) c.266C>G (p.Thr89Arg) n.242C>G | |
2 | g.202467606C>T | CA350399696 | BMPR2 | c.335C>T (p.Thr112Ile) c.266C>T (p.Thr89Ile) n.242C>T | |
2 | g.202467607A>C | CA430903838 | BMPR2 | c.336A>C (p.Thr112=) c.267A>C (p.Thr89=) n.243A>C | |
2 | g.202467607A>G | CA430903839 | BMPR2 | c.336A>G (p.Thr112=) c.267A>G (p.Thr89=) n.243A>G | |
2 | g.202467607A>T | CA430903840 | BMPR2 | c.336A>T (p.Thr112=) c.267A>T (p.Thr89=) n.243A>T | |
2 | g.202467608T>A | CA350399697 | BMPR2 | c.337T>A (p.Tyr113Asn) c.268T>A (p.Tyr90Asn) n.244T>A | |
2 | g.202467608T>C | CA350399698 | BMPR2 | c.337T>C (p.Tyr113His) c.268T>C (p.Tyr90His) n.244T>C | gnomAD v4 |
2 | g.202467608T>G | CA350399699 | BMPR2 | c.337T>G (p.Tyr113Asp) c.268T>G (p.Tyr90Asp) n.244T>G | |
2 | g.202467608T= | CA1321510599 | BMPR2 | c.337T= (p.Tyr113=) c.268T= (p.Tyr90=) n.244T= | |
2 | g.202467609A= | CA1321510611 | BMPR2 | c.338A= (p.Tyr113=) c.269A= (p.Tyr90=) n.245A= | |
2 | g.202467609A>C | CA350399700 | BMPR2 | c.338A>C (p.Tyr113Ser) c.269A>C (p.Tyr90Ser) n.245A>C | |
2 | g.202467609A>G | CA350399701 | BMPR2 | c.338A>G (p.Tyr113Cys) c.269A>G (p.Tyr90Cys) n.245A>G | ClinVar dbSNP COSMIC |
2 | g.202467609A>T | CA350399702 | BMPR2 | c.338A>T (p.Tyr113Phe) c.269A>T (p.Tyr90Phe) n.245A>T | |
2 | g.202467609dup | CA645294008 | BMPR2 | c.338dup (p.Tyr113Ter) c.269dup (p.Tyr90Ter) n.245dup | ClinVar dbSNP |
2 | g.202467610C>A | CA350399703 | BMPR2 | c.339C>A (p.Tyr113Ter) c.270C>A (p.Tyr90Ter) n.246C>A | ClinVar dbSNP |
2 | g.202467610C= | CA1321510614 | BMPR2 | c.339C= (p.Tyr113=) c.270C= (p.Tyr90=) n.246C= | |
2 | g.202467610C>G | CA350399704 | BMPR2 | c.339C>G (p.Tyr113Ter) c.270C>G (p.Tyr90Ter) n.246C>G | ClinVar dbSNP |
2 | g.202467610C>T | CA430903841 | BMPR2 | c.339C>T (p.Tyr113=) c.270C>T (p.Tyr90=) n.246C>T | |
2 | g.202467611del | CA2586965553 | BMPR2 | c.340del (p.Arg114ValfsTer?) c.271del (p.Arg91ValfsTer?) n.247del | |
2 | g.202467610_202467611insAA | CA645294009 | BMPR2 | c.339_340insAA (p.Arg114AsnfsTer?) c.270_271insAA (p.Arg91AsnfsTer?) n.246_247insAA | ClinVar dbSNP |
2 | g.202467611C>A | CA350399705 | BMPR2 | c.340C>A (p.Arg114Ser) c.271C>A (p.Arg91Ser) n.247C>A | gnomAD v4 |
2 | g.202467611C= | CA1321510627 | BMPR2 | c.340C= (p.Arg114=) c.271C= (p.Arg91=) n.247C= | |
2 | g.202467611C>G | CA350399707 | BMPR2 | c.340C>G (p.Arg114Gly) c.271C>G (p.Arg91Gly) n.247C>G | |
2 | g.202467611C>T | CA350399706 | BMPR2 | c.340C>T (p.Arg114Cys) c.271C>T (p.Arg91Cys) n.247C>T | ClinVar dbSNP gnomAD v4 |
2 | g.202467612G>A | CA350399708 | BMPR2 | c.341G>A (p.Arg114His) c.272G>A (p.Arg91His) n.248G>A | gnomAD v4 |
2 | g.202467612G>C | CA350399709 | BMPR2 | c.341G>C (p.Arg114Pro) c.272G>C (p.Arg91Pro) n.248G>C | |
2 | g.202467612G= | CA1321510632 | BMPR2 | c.341G= (p.Arg114=) c.272G= (p.Arg91=) n.248G= | |
2 | g.202467612G>T | CA350399710 | BMPR2 | c.341G>T (p.Arg114Leu) c.272G>T (p.Arg91Leu) n.248G>T | |
2 | g.202467613T>A | CA430903842 | BMPR2 | c.342T>A (p.Arg114=) c.273T>A (p.Arg91=) n.249T>A | |
2 | g.202467613T>C | CA430903843 | BMPR2 | c.342T>C (p.Arg114=) c.273T>C (p.Arg91=) n.249T>C | |
2 | g.202467613T>G | CA430903844 | BMPR2 | c.342T>G (p.Arg114=) c.273T>G (p.Arg91=) n.249T>G | |
2 | g.202467615dup | CA915941500 | BMPR2 | c.344dup (p.Cys116LeufsTer4) c.275dup (p.Cys93LeufsTer4) n.251dup | ClinVar dbSNP |
2 | g.202467615del | CA2586965554 | BMPR2 | c.344del (p.Phe115SerfsTer?) c.275del (p.Phe92SerfsTer?) n.251del | |
2 | g.202467614T>A | CA350399711 | BMPR2 | c.343T>A (p.Phe115Ile) c.274T>A (p.Phe92Ile) n.250T>A | |
2 | g.202467614T>C | CA350399712 | BMPR2 | c.343T>C (p.Phe115Leu) c.274T>C (p.Phe92Leu) n.250T>C | ClinVar dbSNP |
2 | g.202467614T>G | CA350399713 | BMPR2 | c.343T>G (p.Phe115Val) c.274T>G (p.Phe92Val) n.250T>G | |
2 | g.202467614_202467616delinsTTC | CA1321510638 | BMPR2 | c.343_345delinsTTC (p.Phe115=) c.274_276delinsTTC (p.Phe92=) n.250_252delinsTTC | |
2 | g.202467615T>A | CA350399714 | BMPR2 | c.344T>A (p.Phe115Tyr) c.275T>A (p.Phe92Tyr) n.251T>A | |
2 | g.202467615T>C | CA350399715 | BMPR2 | c.344T>C (p.Phe115Ser) c.275T>C (p.Phe92Ser) n.251T>C | |
2 | g.202467615T>G | CA350399716 | BMPR2 | c.344T>G (p.Phe115Cys) c.275T>G (p.Phe92Cys) n.251T>G | |
2 | g.202467616_202467617del | CA645294010 | BMPR2 | c.345_346del (p.Phe115LeufsTer4) c.276_277del (p.Phe92LeufsTer4) n.252_253del | ClinVar dbSNP |
2 | g.202467616C>A | CA350399717 | BMPR2 | c.345C>A (p.Phe115Leu) c.276C>A (p.Phe92Leu) n.252C>A | |
2 | g.202467616C= | CA1321510641 | BMPR2 | c.345C= (p.Phe115=) c.276C= (p.Phe92=) n.252C= | |
2 | g.202467616C>G | CA350399718 | BMPR2 | c.345C>G (p.Phe115Leu) c.276C>G (p.Phe92Leu) n.252C>G | ClinVar |
2 | g.202467616C>T | CA430903845 | BMPR2 | c.345C>T (p.Phe115=) c.276C>T (p.Phe92=) n.252C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202467617del | CA2573134353 | BMPR2 | c.346del (p.Cys116AlafsTer?) c.277del (p.Cys93AlafsTer?) n.253del | ClinVar dbSNP |
2 | g.202467617T>A | CA350399720 | BMPR2 | c.346T>A (p.Cys116Ser) c.277T>A (p.Cys93Ser) n.253T>A | |
2 | g.202467617T>C | CA350399721 | BMPR2 | c.346T>C (p.Cys116Arg) c.277T>C (p.Cys93Arg) n.253T>C | ClinVar dbSNP |
2 | g.202467617T>G | CA350399719 | BMPR2 | c.346T>G (p.Cys116Gly) c.277T>G (p.Cys93Gly) n.253T>G | |
2 | g.202467617T= | CA1321510643 | BMPR2 | c.346T= (p.Cys116=) c.277T= (p.Cys93=) n.253T= | |
2 | g.202467618G>A | CA350399722 | BMPR2 | c.347G>A (p.Cys116Tyr) c.278G>A (p.Cys93Tyr) n.254G>A | |
2 | g.202467618G>C | CA350399723 | BMPR2 | c.347G>C (p.Cys116Ser) c.278G>C (p.Cys93Ser) n.254G>C | |
2 | g.202467618G>T | CA350399724 | BMPR2 | c.347G>T (p.Cys116Phe) c.278G>T (p.Cys93Phe) n.254G>T | |
2 | g.202467619C>A | CA350399725 | BMPR2 | c.348C>A (p.Cys116Ter) c.279C>A (p.Cys93Ter) n.255C>A | |
2 | g.202467619C>G | CA350399726 | BMPR2 | c.348C>G (p.Cys116Trp) c.279C>G (p.Cys93Trp) n.255C>G | |
2 | g.202467619C>T | CA430903846 | BMPR2 | c.348C>T (p.Cys116=) c.279C>T (p.Cys93=) n.255C>T | |
2 | g.202467620T>A | CA350399727 | BMPR2 | c.349T>A (p.Cys117Ser) c.280T>A (p.Cys94Ser) n.256T>A | |
2 | g.202467620T>C | CA350399728 | BMPR2 | c.349T>C (p.Cys117Arg) c.280T>C (p.Cys94Arg) n.256T>C | ClinVar dbSNP |
2 | g.202467620T>G | CA350399729 | BMPR2 | c.349T>G (p.Cys117Gly) c.280T>G (p.Cys94Gly) n.256T>G | ClinVar dbSNP |
2 | g.202467620T= | CA1321510645 | BMPR2 | c.349T= (p.Cys117=) c.280T= (p.Cys94=) n.256T= | |
2 | g.202467621G>A | CA350399730 | BMPR2 | c.350G>A (p.Cys117Tyr) c.281G>A (p.Cys94Tyr) n.257G>A | ClinVar dbSNP gnomAD v4 |
2 | g.202467621G>C | CA350399731 | BMPR2 | c.350G>C (p.Cys117Ser) c.281G>C (p.Cys94Ser) n.257G>C | ClinVar dbSNP |
2 | g.202467621G= | CA1321510651 | BMPR2 | c.350G= (p.Cys117=) c.281G= (p.Cys94=) n.257G= | |
2 | g.202467621G>T | CA350399732 | BMPR2 | c.350G>T (p.Cys117Phe) c.281G>T (p.Cys94Phe) n.257G>T | |
2 | g.202467621dup | CA2586965555 | BMPR2 | c.350dup (p.Cys117TrpfsTer3) c.281dup (p.Cys94TrpfsTer3) n.257dup | |
2 | g.202467622T>A | CA350399733 | BMPR2 | c.351T>A (p.Cys117Ter) c.282T>A (p.Cys94Ter) n.258T>A | |
2 | g.202467622T>C | CA430903847 | BMPR2 | c.351T>C (p.Cys117=) c.282T>C (p.Cys94=) n.258T>C | |
2 | g.202467622T>G | CA350399734 | BMPR2 | c.351T>G (p.Cys117Trp) c.282T>G (p.Cys94Trp) n.258T>G | |
2 | g.202467623T>A | CA350399737 | BMPR2 | c.352T>A (p.Cys118Ser) c.283T>A (p.Cys95Ser) n.259T>A | |
2 | g.202467623T>C | CA350399736 | BMPR2 | c.352T>C (p.Cys118Arg) c.283T>C (p.Cys95Arg) n.259T>C | |
2 | g.202467623T>G | CA350399735 | BMPR2 | c.352T>G (p.Cys118Gly) c.283T>G (p.Cys95Gly) n.259T>G | |
2 | g.202467623_202467624delinsTG | CA1321510661 | BMPR2 | c.352_353delinsTG (p.Cys118=) c.283_284delinsTG (p.Cys95=) n.259_260delinsTG | |
2 | g.202467624del | CA645294011 | BMPR2 | c.353del (p.Cys118LeufsTer?) c.284del (p.Cys95LeufsTer?) n.260del | ClinVar dbSNP |
2 | g.202467624G>A | CA350399738 | BMPR2 | c.353G>A (p.Cys118Tyr) c.284G>A (p.Cys95Tyr) n.260G>A | ClinVar dbSNP |
2 | g.202467624G>C | CA350399739 | BMPR2 | c.353G>C (p.Cys118Ser) c.284G>C (p.Cys95Ser) n.260G>C | |
2 | g.202467624G= | CA1321510663 | BMPR2 | c.353G= (p.Cys118=) c.284G= (p.Cys95=) n.260G= | |
2 | g.202467624G>T | CA350399740 | BMPR2 | c.353G>T (p.Cys118Phe) c.284G>T (p.Cys95Phe) n.260G>T | |
2 | g.202467625T>A | CA350399741 | BMPR2 | c.354T>A (p.Cys118Ter) c.285T>A (p.Cys95Ter) n.261T>A | |
2 | g.202467625T>C | CA430903849 | BMPR2 | c.354T>C (p.Cys118=) c.285T>C (p.Cys95=) n.261T>C | |
2 | g.202467625T>G | CA278075 | BMPR2 | c.354T>G (p.Cys118Trp) c.285T>G (p.Cys95Trp) n.261T>G | ClinVar dbSNP gnomAD v4 |
2 | g.202467625T= | CA1321510665 | BMPR2 | c.354T= (p.Cys118=) c.285T= (p.Cys95=) n.261T= | |
2 | g.202467625_202467626delinsAG | CA645294012 | BMPR2 | c.354_355delinsAG (p.Cys118Ter) c.285_286delinsAG (p.Cys95Ter) n.261_262delinsAG | ClinVar dbSNP |
2 | g.202467625_202467626delinsTA | CA1321510664 | BMPR2 | c.354_355delinsTA (p.Cys118=) c.285_286delinsTA (p.Cys95=) n.261_262delinsTA | |
2 | g.202467626del | CA645294013 | BMPR2 | c.355del (p.Ser119AlafsTer?) c.286del (p.Ser96AlafsTer?) n.262del | ClinVar dbSNP |
2 | g.202467626A= | CA1321510666 | BMPR2 | c.355A= (p.Ser119=) c.286A= (p.Ser96=) n.262A= | |
2 | g.202467626A>C | CA350399742 | BMPR2 | c.355A>C (p.Ser119Arg) c.286A>C (p.Ser96Arg) n.262A>C | |
2 | g.202467626A>G | CA350399743 | BMPR2 | c.355A>G (p.Ser119Gly) c.286A>G (p.Ser96Gly) n.262A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202467626A>T | CA350399744 | BMPR2 | c.355A>T (p.Ser119Cys) c.286A>T (p.Ser96Cys) n.262A>T | |
2 | g.202467627G>A | CA350399745 | BMPR2 | c.356G>A (p.Ser119Asn) c.287G>A (p.Ser96Asn) n.263G>A | gnomAD v4 |
2 | g.202467627G>C | CA350399746 | BMPR2 | c.356G>C (p.Ser119Thr) c.287G>C (p.Ser96Thr) n.263G>C | |
2 | g.202467627G>T | CA350399747 | BMPR2 | c.356G>T (p.Ser119Ile) c.287G>T (p.Ser96Ile) n.263G>T | |
2 | g.202467627_202467629delinsGCA | CA1321510667 | BMPR2 | c.356_358delinsGCA (p.Ser119=) c.287_289delinsGCA (p.Ser96=) n.263_265delinsGCA | |
2 | g.202467628C>A | CA350399748 | BMPR2 | c.357C>A (p.Ser119Arg) c.288C>A (p.Ser96Arg) n.264C>A | |
2 | g.202467628C= | CA1321510668 | BMPR2 | c.357C= (p.Ser119=) c.288C= (p.Ser96=) n.264C= | |
2 | g.202467628C>G | CA350399749 | BMPR2 | c.357C>G (p.Ser119Arg) c.288C>G (p.Ser96Arg) n.264C>G | |
2 | g.202467628C>T | CA2061092 | BMPR2 | c.357C>T (p.Ser119=) c.288C>T (p.Ser96=) n.264C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202467630_202467631del | CA645294014 | BMPR2 | c.359_360del (p.Thr120ArgfsTer4) c.290_291del (p.Thr97ArgfsTer4) n.266_267del | ClinVar dbSNP |
2 | g.202467629A>C | CA350399751 | BMPR2 | c.358A>C (p.Thr120Pro) c.289A>C (p.Thr97Pro) n.265A>C | |
2 | g.202467629A>G | CA350399752 | BMPR2 | c.358A>G (p.Thr120Ala) c.289A>G (p.Thr97Ala) n.265A>G | gnomAD v4 |
2 | g.202467629A>T | CA350399750 | BMPR2 | c.358A>T (p.Thr120Ser) c.289A>T (p.Thr97Ser) n.265A>T | |
2 | g.202467630C>A | CA350399754 | BMPR2 | c.359C>A (p.Thr120Lys) c.290C>A (p.Thr97Lys) n.266C>A | |
2 | g.202467630C>G | CA350399753 | BMPR2 | c.359C>G (p.Thr120Arg) c.290C>G (p.Thr97Arg) n.266C>G | |
2 | g.202467630C>T | CA350399755 | BMPR2 | c.359C>T (p.Thr120Ile) c.290C>T (p.Thr97Ile) n.266C>T | |
2 | g.202467631A>C | CA430903855 | BMPR2 | c.360A>C (p.Thr120=) c.291A>C (p.Thr97=) n.267A>C | |
2 | g.202467631A>G | CA430903854 | BMPR2 | c.360A>G (p.Thr120=) c.291A>G (p.Thr97=) n.267A>G | gnomAD v4 |
2 | g.202467631A>T | CA430903853 | BMPR2 | c.360A>T (p.Thr120=) c.291A>T (p.Thr97=) n.267A>T | |
2 | g.202467632G>A | CA350399756 | BMPR2 | c.361G>A (p.Asp121Asn) c.292G>A (p.Asp98Asn) n.268G>A | COSMIC |
2 | g.202467632G>C | CA350399758 | BMPR2 | c.361G>C (p.Asp121His) c.292G>C (p.Asp98His) n.268G>C | |
2 | g.202467632G>T | CA350399757 | BMPR2 | c.361G>T (p.Asp121Tyr) c.292G>T (p.Asp98Tyr) n.268G>T | |
2 | g.202467633A>C | CA350399759 | BMPR2 | c.362A>C (p.Asp121Ala) c.293A>C (p.Asp98Ala) n.269A>C | |
2 | g.202467633A>G | CA350399760 | BMPR2 | c.362A>G (p.Asp121Gly) c.293A>G (p.Asp98Gly) n.269A>G | |
2 | g.202467633A>T | CA350399761 | BMPR2 | c.362A>T (p.Asp121Val) c.293A>T (p.Asp98Val) n.269A>T | |
2 | g.202467634T>A | CA350399762 | BMPR2 | c.363T>A (p.Asp121Glu) c.294T>A (p.Asp98Glu) n.270T>A | |
2 | g.202467634T>C | CA430903858 | BMPR2 | c.363T>C (p.Asp121=) c.294T>C (p.Asp98=) n.270T>C | |
2 | g.202467634T>G | CA350399763 | BMPR2 | c.363T>G (p.Asp121Glu) c.294T>G (p.Asp98Glu) n.270T>G | |
2 | g.202467635T>A | CA350399764 | BMPR2 | c.364T>A (p.Leu122Ile) c.295T>A (p.Leu99Ile) n.271T>A | |
2 | g.202467635T>C | CA430903859 | BMPR2 | c.364T>C (p.Leu122=) c.295T>C (p.Leu99=) n.271T>C | |
2 | g.202467635T>G | CA350399765 | BMPR2 | c.364T>G (p.Leu122Val) c.295T>G (p.Leu99Val) n.271T>G | |
2 | g.202467636T>A | CA350399766 | BMPR2 | c.365T>A (p.Leu122Ter) c.296T>A (p.Leu99Ter) n.272T>A | |
2 | g.202467636T>C | CA350399767 | BMPR2 | c.365T>C (p.Leu122Ser) c.296T>C (p.Leu99Ser) n.272T>C | COSMIC |
2 | g.202467636T>G | CA350399768 | BMPR2 | c.365T>G (p.Leu122Ter) c.296T>G (p.Leu99Ter) n.272T>G | |
2 | g.202467637A>C | CA350399769 | BMPR2 | c.366A>C (p.Leu122Phe) c.297A>C (p.Leu99Phe) n.273A>C | |
2 | g.202467637A>G | CA430903860 | BMPR2 | c.366A>G (p.Leu122=) c.297A>G (p.Leu99=) n.273A>G | |
2 | g.202467637A>T | CA350399770 | BMPR2 | c.366A>T (p.Leu122Phe) c.297A>T (p.Leu99Phe) n.273A>T | gnomAD v4 |
2 | g.202467638T>A | CA278093 | BMPR2 | c.367T>A (p.Cys123Ser) c.298T>A (p.Cys100Ser) n.274T>A | ClinVar dbSNP |
2 | g.202467638T>C | CA278091 | BMPR2 | c.367T>C (p.Cys123Arg) c.298T>C (p.Cys100Arg) n.274T>C | ClinVar dbSNP |
2 | g.202467638T>G | CA350399771 | BMPR2 | c.367T>G (p.Cys123Gly) c.298T>G (p.Cys100Gly) n.274T>G | |
2 | g.202467638T= | CA1321510669 | BMPR2 | c.367T= (p.Cys123=) c.298T= (p.Cys100=) n.274T= | |
2 | g.202467639G>A | CA350399772 | BMPR2 | c.368G>A (p.Cys123Tyr) c.299G>A (p.Cys100Tyr) n.275G>A | |
2 | g.202467639G>C | CA350399773 | BMPR2 | c.368G>C (p.Cys123Ser) c.299G>C (p.Cys100Ser) n.275G>C | |
2 | g.202467639G>T | CA350399774 | BMPR2 | c.368G>T (p.Cys123Phe) c.299G>T (p.Cys100Phe) n.275G>T | |
2 | g.202467640del | CA2573051835 | BMPR2 | c.369del (p.Cys123Ter) c.300del (p.Cys100Ter) n.276del | ClinVar dbSNP |
2 | g.202467640T>A | CA350399775 | BMPR2 | c.369T>A (p.Cys123Ter) c.300T>A (p.Cys100Ter) n.276T>A | |
2 | g.202467640T>C | CA430903861 | BMPR2 | c.369T>C (p.Cys123=) c.300T>C (p.Cys100=) n.276T>C | |
2 | g.202467640T>G | CA350399776 | BMPR2 | c.369T>G (p.Cys123Trp) c.300T>G (p.Cys100Trp) n.276T>G | |
2 | g.202467640T= | CA1321510670 | BMPR2 | c.369T= (p.Cys123=) c.300T= (p.Cys100=) n.276T= | |
2 | g.202467641A= | CA1321510671 | BMPR2 | c.370A= (p.Asn124=) c.301A= (p.Asn101=) n.277A= | |
2 | g.202467641A>C | CA350399777 | BMPR2 | c.370A>C (p.Asn124His) c.301A>C (p.Asn101His) n.277A>C | |
2 | g.202467641A>G | CA350399778 | BMPR2 | c.370A>G (p.Asn124Asp) c.301A>G (p.Asn101Asp) n.277A>G | ClinVar dbSNP |
2 | g.202467641A>T | CA350399780 | BMPR2 | c.370A>T (p.Asn124Tyr) c.301A>T (p.Asn101Tyr) n.277A>T | |
2 | g.202467642dup | CA645294015 | BMPR2 | c.371dup (p.Asn124LysfsTer6) c.302dup (p.Asn101LysfsTer6) n.278dup | ClinVar dbSNP |
2 | g.202467642A>C | CA350399781 | BMPR2 | c.371A>C (p.Asn124Thr) c.302A>C (p.Asn101Thr) n.278A>C | |
2 | g.202467642A>G | CA350399782 | BMPR2 | c.371A>G (p.Asn124Ser) c.302A>G (p.Asn101Ser) n.278A>G | |
2 | g.202467642A>T | CA350399783 | BMPR2 | c.371A>T (p.Asn124Ile) c.302A>T (p.Asn101Ile) n.278A>T | |
2 | g.202467643T>A | CA350399784 | BMPR2 | c.372T>A (p.Asn124Lys) c.303T>A (p.Asn101Lys) n.279T>A | |
2 | g.202467643T>C | CA430903862 | BMPR2 | c.372T>C (p.Asn124=) c.303T>C (p.Asn101=) n.279T>C | |
2 | g.202467643T>G | CA350399785 | BMPR2 | c.372T>G (p.Asn124Lys) c.303T>G (p.Asn101Lys) n.279T>G | |
2 | g.202467644G>A | CA350399786 | BMPR2 | c.373G>A (p.Val125Ile) c.304G>A (p.Val102Ile) n.280G>A | |
2 | g.202467644G>C | CA350399787 | BMPR2 | c.373G>C (p.Val125Leu) c.304G>C (p.Val102Leu) n.280G>C | |
2 | g.202467644G>T | CA350399788 | BMPR2 | c.373G>T (p.Val125Phe) c.304G>T (p.Val102Phe) n.280G>T | |
2 | g.202467645T>A | CA350399789 | BMPR2 | c.374T>A (p.Val125Asp) c.305T>A (p.Val102Asp) n.281T>A | |
2 | g.202467645T>C | CA350399790 | BMPR2 | c.374T>C (p.Val125Ala) c.305T>C (p.Val102Ala) n.281T>C | |
2 | g.202467645T>G | CA350399791 | BMPR2 | c.374T>G (p.Val125Gly) c.305T>G (p.Val102Gly) n.281T>G | |
2 | g.202467646C>A | CA430903866 | BMPR2 | c.375C>A (p.Val125=) c.306C>A (p.Val102=) n.282C>A | gnomAD v4 |
2 | g.202467646C>G | CA430903865 | BMPR2 | c.375C>G (p.Val125=) c.306C>G (p.Val102=) n.282C>G | gnomAD v4 |
2 | g.202467646C>T | CA430903864 | BMPR2 | c.375C>T (p.Val125=) c.306C>T (p.Val102=) n.282C>T | |
2 | g.202467647A>C | CA350399794 | BMPR2 | c.376A>C (p.Asn126His) c.307A>C (p.Asn103His) n.283A>C | |
2 | g.202467647A>G | CA350399792 | BMPR2 | c.376A>G (p.Asn126Asp) c.307A>G (p.Asn103Asp) n.283A>G | |
2 | g.202467647A>T | CA350399793 | BMPR2 | c.376A>T (p.Asn126Tyr) c.307A>T (p.Asn103Tyr) n.283A>T | |
2 | g.202467648A= | CA1321510677 | BMPR2 | c.377A= (p.Asn126=) c.308A= (p.Asn103=) n.284A= | |
2 | g.202467648A>C | CA350399795 | BMPR2 | c.377A>C (p.Asn126Thr) c.308A>C (p.Asn103Thr) n.284A>C | |
2 | g.202467648A>G | CA323070 | BMPR2 | c.377A>G (p.Asn126Ser) c.308A>G (p.Asn103Ser) n.284A>G | ClinVar dbSNP |
2 | g.202467648A>T | CA350399796 | BMPR2 | c.377A>T (p.Asn126Ile) c.308A>T (p.Asn103Ile) n.284A>T | |
2 | g.202467649C>A | CA350399797 | BMPR2 | c.378C>A (p.Asn126Lys) c.309C>A (p.Asn103Lys) n.285C>A | |
2 | g.202467649C>G | CA350399798 | BMPR2 | c.378C>G (p.Asn126Lys) c.309C>G (p.Asn103Lys) n.285C>G | |
2 | g.202467649C>T | CA430903869 | BMPR2 | c.378C>T (p.Asn126=) c.309C>T (p.Asn103=) n.285C>T | |
2 | g.202467650T>A | CA350399799 | BMPR2 | c.379T>A (p.Phe127Ile) c.310T>A (p.Phe104Ile) n.286T>A | |
2 | g.202467650T>C | CA350399801 | BMPR2 | c.379T>C (p.Phe127Leu) c.310T>C (p.Phe104Leu) n.286T>C | |
2 | g.202467650T>G | CA350399800 | BMPR2 | c.379T>G (p.Phe127Val) c.310T>G (p.Phe104Val) n.286T>G | |
2 | g.202467651T>A | CA350399802 | BMPR2 | c.380T>A (p.Phe127Tyr) c.311T>A (p.Phe104Tyr) n.287T>A | |
2 | g.202467651T>C | CA350399803 | BMPR2 | c.380T>C (p.Phe127Ser) c.311T>C (p.Phe104Ser) n.287T>C | |
2 | g.202467651T>G | CA350399804 | BMPR2 | c.380T>G (p.Phe127Cys) c.311T>G (p.Phe104Cys) n.287T>G | |
2 | g.202467652T>A | CA350399805 | BMPR2 | c.381T>A (p.Phe127Leu) c.312T>A (p.Phe104Leu) n.288T>A | |
2 | g.202467652T>C | CA430903870 | BMPR2 | c.381T>C (p.Phe127=) c.312T>C (p.Phe104=) n.288T>C | gnomAD v4 |
2 | g.202467652T>G | CA350399806 | BMPR2 | c.381T>G (p.Phe127Leu) c.312T>G (p.Phe104Leu) n.288T>G | |
2 | g.202467653A>C | CA350399807 | BMPR2 | c.382A>C (p.Thr128Pro) c.313A>C (p.Thr105Pro) n.289A>C | |
2 | g.202467653A>G | CA350399808 | BMPR2 | c.382A>G (p.Thr128Ala) c.313A>G (p.Thr105Ala) n.289A>G | |
2 | g.202467653A>T | CA350399809 | BMPR2 | c.382A>T (p.Thr128Ser) c.313A>T (p.Thr105Ser) n.289A>T | |
2 | g.202467654C>A | CA350399810 | BMPR2 | c.383C>A (p.Thr128Asn) c.314C>A (p.Thr105Asn) n.290C>A | |
2 | g.202467654C>G | CA350399811 | BMPR2 | c.383C>G (p.Thr128Ser) c.314C>G (p.Thr105Ser) n.290C>G | |
2 | g.202467654C>T | CA350399812 | BMPR2 | c.383C>T (p.Thr128Ile) c.314C>T (p.Thr105Ile) n.290C>T | |
2 | g.202467655T>A | CA430903871 | BMPR2 | c.384T>A (p.Thr128=) c.315T>A (p.Thr105=) n.291T>A | |
2 | g.202467655T>C | CA430903872 | BMPR2 | c.384T>C (p.Thr128=) c.315T>C (p.Thr105=) n.291T>C | |
2 | g.202467655T>G | CA430903873 | BMPR2 | c.384T>G (p.Thr128=) c.315T>G (p.Thr105=) n.291T>G | |
2 | g.202467656G>A | CA350399815 | BMPR2 | c.385G>A (p.Glu129Lys) c.316G>A (p.Glu106Lys) n.292G>A | |
2 | g.202467656G>C | CA350399814 | BMPR2 | c.385G>C (p.Glu129Gln) c.316G>C (p.Glu106Gln) n.292G>C | |
2 | g.202467656G>T | CA350399813 | BMPR2 | c.385G>T (p.Glu129Ter) c.316G>T (p.Glu106Ter) n.292G>T | |
2 | g.202467657A>C | CA350399817 | BMPR2 | c.386A>C (p.Glu129Ala) c.317A>C (p.Glu106Ala) n.293A>C | |
2 | g.202467657A>G | CA350399816 | BMPR2 | c.386A>G (p.Glu129Gly) c.317A>G (p.Glu106Gly) n.293A>G | |
2 | g.202467657A>T | CA350399818 | BMPR2 | c.386A>T (p.Glu129Val) c.317A>T (p.Glu106Val) n.293A>T | |
2 | g.202467658G>A | CA430903874 | BMPR2 | c.387G>A (p.Glu129=) c.318G>A (p.Glu106=) n.294G>A | |
2 | g.202467658G>C | CA350399819 | BMPR2 | c.387G>C (p.Glu129Asp) c.318G>C (p.Glu106Asp) n.294G>C | gnomAD v4 |
2 | g.202467658G>T | CA350399820 | BMPR2 | c.387G>T (p.Glu129Asp) c.318G>T (p.Glu106Asp) n.294G>T | gnomAD v4 |