Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.202461237_202467808del | CA915941492 | BMPR2 | c.77-3572_418+119del | ClinVar |
2 | g.202462494_202466873del | CA915941493 | BMPR2 | c.77-2315_248-646del | ClinVar |
2 | g.202464888_202464889del | CA645293991 | BMPR2 | c.156_157del (p.His53Ter) c.81_82del (p.His28Ter) n.63_64del | ClinVar dbSNP |
2 | g.202464888T>A | CA430903618 | BMPR2 | c.156T>A (p.Ser52=) c.81T>A (p.Ser27=) n.63T>A | |
2 | g.202464888T>C | CA430903619 | BMPR2 | c.156T>C (p.Ser52=) c.81T>C (p.Ser27=) n.63T>C | |
2 | g.202464888T>G | CA430903620 | BMPR2 | c.156T>G (p.Ser52=) c.81T>G (p.Ser27=) n.63T>G | gnomAD v4 |
2 | g.202464889C>A | CA350399282 | BMPR2 | c.157C>A (p.His53Asn) c.82C>A (p.His28Asn) n.64C>A | |
2 | g.202464889C>G | CA350399283 | BMPR2 | c.157C>G (p.His53Asp) c.82C>G (p.His28Asp) n.64C>G | |
2 | g.202464889C>T | CA350399284 | BMPR2 | c.157C>T (p.His53Tyr) c.82C>T (p.His28Tyr) n.64C>T | |
2 | g.202464890A>C | CA350399285 | BMPR2 | c.158A>C (p.His53Pro) c.83A>C (p.His28Pro) n.65A>C | |
2 | g.202464890A>G | CA350399287 | BMPR2 | c.158A>G (p.His53Arg) c.83A>G (p.His28Arg) n.65A>G | gnomAD v4 |
2 | g.202464890A>T | CA350399286 | BMPR2 | c.158A>T (p.His53Leu) c.83A>T (p.His28Leu) n.65A>T | |
2 | g.202464891T>A | CA350399288 | BMPR2 | c.159T>A (p.His53Gln) c.84T>A (p.His28Gln) n.66T>A | |
2 | g.202464891T>C | CA430903621 | BMPR2 | c.159T>C (p.His53=) c.84T>C (p.His28=) n.66T>C | |
2 | g.202464891T>G | CA350399289 | BMPR2 | c.159T>G (p.His53Gln) c.84T>G (p.His28Gln) n.66T>G | |
2 | g.202464892G>A | CA350399290 | BMPR2 | c.160G>A (p.Glu54Lys) c.85G>A (p.Glu29Lys) n.67G>A | |
2 | g.202464892G>C | CA350399291 | BMPR2 | c.160G>C (p.Glu54Gln) c.85G>C (p.Glu29Gln) n.67G>C | |
2 | g.202464892G>T | CA350399292 | BMPR2 | c.160G>T (p.Glu54Ter) c.85G>T (p.Glu29Ter) n.67G>T | |
2 | g.202464893A>C | CA350399293 | BMPR2 | c.161A>C (p.Glu54Ala) c.86A>C (p.Glu29Ala) n.68A>C | |
2 | g.202464893A>G | CA350399294 | BMPR2 | c.161A>G (p.Glu54Gly) c.86A>G (p.Glu29Gly) n.68A>G | |
2 | g.202464893A>T | CA350399295 | BMPR2 | c.161A>T (p.Glu54Val) c.86A>T (p.Glu29Val) n.68A>T | |
2 | g.202464896dup | CA645531963 | BMPR2 | c.164dup (p.Asn55LysfsTer10) c.89dup (p.Asn30LysfsTer10) n.71dup | COSMIC |
2 | g.202464896del | CA2586965529 | BMPR2 | c.164del (p.Asn55MetfsTer23) c.89del (p.Asn30MetfsTer23) n.71del | |
2 | g.202464894A>C | CA350399296 | BMPR2 | c.162A>C (p.Glu54Asp) c.87A>C (p.Glu29Asp) n.69A>C | |
2 | g.202464894A>G | CA430903622 | BMPR2 | c.162A>G (p.Glu54=) c.87A>G (p.Glu29=) n.69A>G | |
2 | g.202464894A>T | CA350399297 | BMPR2 | c.162A>T (p.Glu54Asp) c.87A>T (p.Glu29Asp) n.69A>T | |
2 | g.202464895A>C | CA350399299 | BMPR2 | c.163A>C (p.Asn55His) c.88A>C (p.Asn30His) n.70A>C | |
2 | g.202464895A>G | CA350399300 | BMPR2 | c.163A>G (p.Asn55Asp) c.88A>G (p.Asn30Asp) n.70A>G | |
2 | g.202464895A>T | CA350399298 | BMPR2 | c.163A>T (p.Asn55Tyr) c.88A>T (p.Asn30Tyr) n.70A>T | |
2 | g.202464896A>C | CA350399302 | BMPR2 | c.164A>C (p.Asn55Thr) c.89A>C (p.Asn30Thr) n.71A>C | |
2 | g.202464896A>G | CA350399301 | BMPR2 | c.164A>G (p.Asn55Ser) c.89A>G (p.Asn30Ser) n.71A>G | |
2 | g.202464896A>T | CA350399303 | BMPR2 | c.164A>T (p.Asn55Ile) c.89A>T (p.Asn30Ile) n.71A>T | |
2 | g.202464897T>A | CA350399304 | BMPR2 | c.165T>A (p.Asn55Lys) c.90T>A (p.Asn30Lys) n.72T>A | |
2 | g.202464897T>C | CA2061045 | BMPR2 | c.165T>C (p.Asn55=) c.90T>C (p.Asn30=) n.72T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202464897T>G | CA350399305 | BMPR2 | c.165T>G (p.Asn55Lys) c.90T>G (p.Asn30Lys) n.72T>G | |
2 | g.202464897T= | CA1321507655 | BMPR2 | c.165T= (p.Asn55=) c.90T= (p.Asn30=) n.72T= | |
2 | g.202464897_202464898delinsTG | CA1321507658 | BMPR2 | c.165_166delinsTG (p.Asn55=) c.90_91delinsTG (p.Asn30=) n.72_73delinsTG | |
2 | g.202464898G>A | CA350399306 | BMPR2 | c.166G>A (p.Gly56Arg) c.91G>A (p.Gly31Arg) n.73G>A | gnomAD v4 |
2 | g.202464898G>C | CA350399307 | BMPR2 | c.166G>C (p.Gly56Arg) c.91G>C (p.Gly31Arg) n.73G>C | |
2 | g.202464898G>T | CA350399308 | BMPR2 | c.166G>T (p.Gly56Trp) c.91G>T (p.Gly31Trp) n.73G>T | |
2 | g.202464900del | CA645293992 | BMPR2 | c.168del (p.Thr57GlnfsTer21) c.93del (p.Thr32GlnfsTer21) n.75del | ClinVar dbSNP |
2 | g.202464899G>A | CA350399309 | BMPR2 | c.167G>A (p.Gly56Glu) c.92G>A (p.Gly31Glu) n.74G>A | |
2 | g.202464899G>C | CA350399310 | BMPR2 | c.167G>C (p.Gly56Ala) c.92G>C (p.Gly31Ala) n.74G>C | dbSNP |
2 | g.202464899G= | CA1321507663 | BMPR2 | c.167G= (p.Gly56=) c.92G= (p.Gly31=) n.74G= | |
2 | g.202464899G>T | CA350399311 | BMPR2 | c.167G>T (p.Gly56Val) c.92G>T (p.Gly31Val) n.74G>T | |
2 | g.202464900G>A | CA430903623 | BMPR2 | c.168G>A (p.Gly56=) c.93G>A (p.Gly31=) n.75G>A | dbSNP gnomAD v4 |
2 | g.202464900G>C | CA430903624 | BMPR2 | c.168G>C (p.Gly56=) c.93G>C (p.Gly31=) n.75G>C | |
2 | g.202464900G= | CA1321507665 | BMPR2 | c.168G= (p.Gly56=) c.93G= (p.Gly31=) n.75G= | |
2 | g.202464900G>T | CA430903625 | BMPR2 | c.168G>T (p.Gly56=) c.93G>T (p.Gly31=) n.75G>T | |
2 | g.202464901A>C | CA350399312 | BMPR2 | c.169A>C (p.Thr57Pro) c.94A>C (p.Thr32Pro) n.76A>C | |
2 | g.202464901A>G | CA350399313 | BMPR2 | c.169A>G (p.Thr57Ala) c.94A>G (p.Thr32Ala) n.76A>G | |
2 | g.202464901A>T | CA350399314 | BMPR2 | c.169A>T (p.Thr57Ser) c.94A>T (p.Thr32Ser) n.76A>T | |
2 | g.202464902C>A | CA350399317 | BMPR2 | c.170C>A (p.Thr57Lys) c.95C>A (p.Thr32Lys) n.77C>A | |
2 | g.202464902C>G | CA350399316 | BMPR2 | c.170C>G (p.Thr57Arg) c.95C>G (p.Thr32Arg) n.77C>G | |
2 | g.202464902C>T | CA350399315 | BMPR2 | c.170C>T (p.Thr57Ile) c.95C>T (p.Thr32Ile) n.77C>T | |
2 | g.202464903A= | CA1321507670 | BMPR2 | c.171A= (p.Thr57=) c.96A= (p.Thr32=) n.78A= | |
2 | g.202464903A>C | CA430903626 | BMPR2 | c.171A>C (p.Thr57=) c.96A>C (p.Thr32=) n.78A>C | |
2 | g.202464903A>G | CA430903627 | BMPR2 | c.171A>G (p.Thr57=) c.96A>G (p.Thr32=) n.78A>G | |
2 | g.202464903A>T | CA430903628 | BMPR2 | c.171A>T (p.Thr57=) c.96A>T (p.Thr32=) n.78A>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202464904_202464906del | CA2739279831 | BMPR2 | c.172_174del (p.Ile58del) c.97_99del (p.Ile33del) n.79_81del | ClinVar |
2 | g.202464904A= | CA1321507676 | BMPR2 | c.172A= (p.Ile58=) c.97A= (p.Ile33=) n.79A= | |
2 | g.202464904A>C | CA350399318 | BMPR2 | c.172A>C (p.Ile58Leu) c.97A>C (p.Ile33Leu) n.79A>C | |
2 | g.202464904A>G | CA350399319 | BMPR2 | c.172A>G (p.Ile58Val) c.97A>G (p.Ile33Val) n.79A>G | dbSNP |
2 | g.202464904A>T | CA350399320 | BMPR2 | c.172A>T (p.Ile58Leu) c.97A>T (p.Ile33Leu) n.79A>T | |
2 | g.202464906_202464907dup | CA10587992 | BMPR2 | c.174_175dup (p.Leu59TyrfsTer20) c.99_100dup (p.Leu34TyrfsTer20) n.81_82dup | ClinVar dbSNP |
2 | g.202464905T>A | CA350399321 | BMPR2 | c.173T>A (p.Ile58Lys) c.98T>A (p.Ile33Lys) n.80T>A | |
2 | g.202464905T>C | CA350399322 | BMPR2 | c.173T>C (p.Ile58Thr) c.98T>C (p.Ile33Thr) n.80T>C | |
2 | g.202464905T>G | CA350399323 | BMPR2 | c.173T>G (p.Ile58Arg) c.98T>G (p.Ile33Arg) n.80T>G | |
2 | g.202464908_202464910del | CA2662703809 | BMPR2 | c.176_178del (p.Leu59del) c.101_103del (p.Leu34del) n.83_85del | gnomAD v4 |
2 | g.202464906A= | CA1321507679 | BMPR2 | c.174A= (p.Ile58=) c.99A= (p.Ile33=) n.81A= | |
2 | g.202464906A>C | CA430903629 | BMPR2 | c.174A>C (p.Ile58=) c.99A>C (p.Ile33=) n.81A>C | |
2 | g.202464906A>G | CA2061046 | BMPR2 | c.174A>G (p.Ile58Met) c.99A>G (p.Ile33Met) n.81A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202464906A>T | CA430903630 | BMPR2 | c.174A>T (p.Ile58=) c.99A>T (p.Ile33=) n.81A>T | |
2 | g.202464907T>A | CA350399324 | BMPR2 | c.175T>A (p.Leu59Ile) c.100T>A (p.Leu34Ile) n.82T>A | |
2 | g.202464907T>C | CA430903631 | BMPR2 | c.175T>C (p.Leu59=) c.100T>C (p.Leu34=) n.82T>C | ClinVar gnomAD v4 |
2 | g.202464907T>G | CA350399325 | BMPR2 | c.175T>G (p.Leu59Val) c.100T>G (p.Leu34Val) n.82T>G | |
2 | g.202464908T>A | CA350399326 | BMPR2 | c.176T>A (p.Leu59Ter) c.101T>A (p.Leu34Ter) n.83T>A | |
2 | g.202464908T>C | CA350399327 | BMPR2 | c.176T>C (p.Leu59Ser) c.101T>C (p.Leu34Ser) n.83T>C | |
2 | g.202464908T>G | CA350399328 | BMPR2 | c.176T>G (p.Leu59Ter) c.101T>G (p.Leu34Ter) n.83T>G | |
2 | g.202464909A>C | CA350399329 | BMPR2 | c.177A>C (p.Leu59Phe) c.102A>C (p.Leu34Phe) n.84A>C | |
2 | g.202464909A>G | CA430903632 | BMPR2 | c.177A>G (p.Leu59=) c.102A>G (p.Leu34=) n.84A>G | |
2 | g.202464909A>T | CA350399330 | BMPR2 | c.177A>T (p.Leu59Phe) c.102A>T (p.Leu34Phe) n.84A>T | |
2 | g.202464910T>A | CA350399331 | BMPR2 | c.178T>A (p.Cys60Ser) c.103T>A (p.Cys35Ser) n.85T>A | |
2 | g.202464910T>C | CA350399332 | BMPR2 | c.178T>C (p.Cys60Arg) c.103T>C (p.Cys35Arg) n.85T>C | ClinVar dbSNP |
2 | g.202464910T>G | CA350399333 | BMPR2 | c.178T>G (p.Cys60Gly) c.103T>G (p.Cys35Gly) n.85T>G | ClinVar dbSNP |
2 | g.202464910T= | CA1321507683 | BMPR2 | c.178T= (p.Cys60=) c.103T= (p.Cys35=) n.85T= | |
2 | g.202464911G>A | CA350399334 | BMPR2 | c.179G>A (p.Cys60Tyr) c.104G>A (p.Cys35Tyr) n.86G>A | ClinVar dbSNP |
2 | g.202464911G>C | CA350399335 | BMPR2 | c.179G>C (p.Cys60Ser) c.104G>C (p.Cys35Ser) n.86G>C | |
2 | g.202464911G= | CA1321507687 | BMPR2 | c.179G= (p.Cys60=) c.104G= (p.Cys35=) n.86G= | |
2 | g.202464911G>T | CA350399336 | BMPR2 | c.179G>T (p.Cys60Phe) c.104G>T (p.Cys35Phe) n.86G>T | ClinVar dbSNP |
2 | g.202464912C>A | CA350399337 | BMPR2 | c.180C>A (p.Cys60Ter) c.105C>A (p.Cys35Ter) n.87C>A | COSMIC |
2 | g.202464912C>G | CA350399338 | BMPR2 | c.180C>G (p.Cys60Trp) c.105C>G (p.Cys35Trp) n.87C>G | |
2 | g.202464912C>T | CA430903633 | BMPR2 | c.180C>T (p.Cys60=) c.105C>T (p.Cys35=) n.87C>T | ClinVar dbSNP gnomAD v4 |
2 | g.202464912_202464914del | CA2586965531 | BMPR2 | c.180_182del (p.Cys60_Ser61delinsTrp) c.105_107del (p.Cys35_Ser36delinsTrp) n.87_89del | |
2 | g.202464913T>A | CA350399339 | BMPR2 | c.181T>A (p.Ser61Thr) c.106T>A (p.Ser36Thr) n.88T>A | COSMIC |
2 | g.202464913T>C | CA350399341 | BMPR2 | c.181T>C (p.Ser61Pro) c.106T>C (p.Ser36Pro) n.88T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202464913T>G | CA350399340 | BMPR2 | c.181T>G (p.Ser61Ala) c.106T>G (p.Ser36Ala) n.88T>G | |
2 | g.202464913T= | CA1321507692 | BMPR2 | c.181T= (p.Ser61=) c.106T= (p.Ser36=) n.88T= | |
2 | g.202464914C>A | CA350399342 | BMPR2 | c.182C>A (p.Ser61Ter) c.107C>A (p.Ser36Ter) n.89C>A | |
2 | g.202464914C= | CA1321507694 | BMPR2 | c.182C= (p.Ser61=) c.107C= (p.Ser36=) n.89C= | |
2 | g.202464914C>G | CA350399343 | BMPR2 | c.182C>G (p.Ser61Trp) c.107C>G (p.Ser36Trp) n.89C>G | gnomAD v4 |
2 | g.202464914C>T | CA350399344 | BMPR2 | c.182C>T (p.Ser61Leu) c.107C>T (p.Ser36Leu) n.89C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.202464915G>A | CA2061047 | BMPR2 | c.183G>A (p.Ser61=) c.108G>A (p.Ser36=) n.90G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202464915G>C | CA430903634 | BMPR2 | c.183G>C (p.Ser61=) c.108G>C (p.Ser36=) n.90G>C | |
2 | g.202464915G= | CA1321507696 | BMPR2 | c.183G= (p.Ser61=) c.108G= (p.Ser36=) n.90G= | |
2 | g.202464915G>T | CA430903635 | BMPR2 | c.183G>T (p.Ser61=) c.108G>T (p.Ser36=) n.90G>T | gnomAD v4 |
2 | g.202464916A= | CA1321507704 | BMPR2 | c.184A= (p.Lys62=) c.109A= (p.Lys37=) n.91A= | |
2 | g.202464916A>C | CA350399345 | BMPR2 | c.184A>C (p.Lys62Gln) c.109A>C (p.Lys37Gln) n.91A>C | |
2 | g.202464916A>G | CA350399347 | BMPR2 | c.184A>G (p.Lys62Glu) c.109A>G (p.Lys37Glu) n.91A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202464916A>T | CA350399346 | BMPR2 | c.184A>T (p.Lys62Ter) c.109A>T (p.Lys37Ter) n.91A>T | |
2 | g.202464918dup | CA322535 | BMPR2 | c.186dup (p.Gly63ArgfsTer2) c.111dup (p.Gly38ArgfsTer2) n.93dup | ClinVar dbSNP |
2 | g.202464917A>C | CA350399348 | BMPR2 | c.185A>C (p.Lys62Thr) c.110A>C (p.Lys37Thr) n.92A>C | gnomAD v4 |
2 | g.202464917A>G | CA350399349 | BMPR2 | c.185A>G (p.Lys62Arg) c.110A>G (p.Lys37Arg) n.92A>G | |
2 | g.202464917A>T | CA350399350 | BMPR2 | c.185A>T (p.Lys62Ile) c.110A>T (p.Lys37Ile) n.92A>T | |
2 | g.202464918A= | CA1321507706 | BMPR2 | c.186A= (p.Lys62=) c.111A= (p.Lys37=) n.93A= | |
2 | g.202464918A>C | CA350399351 | BMPR2 | c.186A>C (p.Lys62Asn) c.111A>C (p.Lys37Asn) n.93A>C | |
2 | g.202464918A>G | CA430903636 | BMPR2 | c.186A>G (p.Lys62=) c.111A>G (p.Lys37=) n.93A>G | |
2 | g.202464918A>T | CA350399352 | BMPR2 | c.186A>T (p.Lys62Asn) c.111A>T (p.Lys37Asn) n.93A>T | |
2 | g.202464918_202464919insTACC | CA645293993 | BMPR2 | c.186_187insTACC (p.Gly63TyrfsTer3) c.111_112insTACC (p.Gly38TyrfsTer3) n.93_94insTACC | ClinVar dbSNP |
2 | g.202464919G>A | CA350399353 | BMPR2 | c.187G>A (p.Gly63Ser) c.112G>A (p.Gly38Ser) n.94G>A | |
2 | g.202464919G>C | CA2061048 | BMPR2 | c.187G>C (p.Gly63Arg) c.112G>C (p.Gly38Arg) n.94G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202464919G= | CA1321507712 | BMPR2 | c.187G= (p.Gly63=) c.112G= (p.Gly38=) n.94G= | |
2 | g.202464919G>T | CA350399354 | BMPR2 | c.187G>T (p.Gly63Cys) c.112G>T (p.Gly38Cys) n.94G>T | |
2 | g.202464919_202464940delinsGGTAGCACCTGCTATGGCCTTT | CA1321507710 | BMPR2 | c.187_208delinsGGTAGCACCTGCTATGGCCTTT (p.Gly63=) c.112_133delinsGGTAGCACCTGCTATGGCCTTT (p.Gly38=) n.94_115delinsGGTAGCACCTGCTATGGCCTTT | |
2 | g.202464920G>A | CA350399355 | BMPR2 | c.188G>A (p.Gly63Asp) c.113G>A (p.Gly38Asp) n.95G>A | |
2 | g.202464920G>C | CA350399356 | BMPR2 | c.188G>C (p.Gly63Ala) c.113G>C (p.Gly38Ala) n.95G>C | |
2 | g.202464920G>T | CA350399357 | BMPR2 | c.188G>T (p.Gly63Val) c.113G>T (p.Gly38Val) n.95G>T | |
2 | g.202464920_202464939delinsGTAGCACCTGCTATGGCCTT | CA1321507720 | BMPR2 | c.188_207delinsGTAGCACCTGCTATGGCCTT (p.Gly63=) c.113_132delinsGTAGCACCTGCTATGGCCTT (p.Gly38=) n.95_114delinsGTAGCACCTGCTATGGCCTT | |
2 | g.202464921_202464941del | CA645293994 | BMPR2 | c.189_209del (p.Ser64_Trp70del) c.114_134del (p.Ser39_Trp45del) n.96_116del | ClinVar dbSNP |
2 | g.202464921T>A | CA430903637 | BMPR2 | c.189T>A (p.Gly63=) c.114T>A (p.Gly38=) n.96T>A | |
2 | g.202464921T>C | CA430903638 | BMPR2 | c.189T>C (p.Gly63=) c.114T>C (p.Gly38=) n.96T>C | |
2 | g.202464921T>G | CA430903639 | BMPR2 | c.189T>G (p.Gly63=) c.114T>G (p.Gly38=) n.96T>G | |
2 | g.202464921dup | CA2580065450 | BMPR2 | c.189dup (p.Ser64Ter) c.114dup (p.Ser39Ter) n.96dup | ClinVar |
2 | g.202464921_202464939delinsGGAGCATAATCAAA | CA645293995 | BMPR2 | c.189_207delinsGGAGCATAATCAAA (p.Ser64GlufsTer32) c.114_132delinsGGAGCATAATCAAA (p.Ser39GlufsTer34) n.96_114delinsGGAGCATAATCAAA | ClinVar dbSNP |
2 | g.202464922A= | CA1321507728 | BMPR2 | c.190A= (p.Ser64=) c.115A= (p.Ser39=) n.97A= | |
2 | g.202464922A>C | CA350399358 | BMPR2 | c.190A>C (p.Ser64Arg) c.115A>C (p.Ser39Arg) n.97A>C | |
2 | g.202464922A>G | CA350399360 | BMPR2 | c.190A>G (p.Ser64Gly) c.115A>G (p.Ser39Gly) n.97A>G | dbSNP gnomAD v4 |
2 | g.202464922A>T | CA350399359 | BMPR2 | c.190A>T (p.Ser64Cys) c.115A>T (p.Ser39Cys) n.97A>T | |
2 | g.202464923G>A | CA350399361 | BMPR2 | c.191G>A (p.Ser64Asn) c.116G>A (p.Ser39Asn) n.98G>A | gnomAD v4 |
2 | g.202464923G>C | CA350399363 | BMPR2 | c.191G>C (p.Ser64Thr) c.116G>C (p.Ser39Thr) n.98G>C | |
2 | g.202464923G= | CA1321507729 | BMPR2 | c.191G= (p.Ser64=) c.116G= (p.Ser39=) n.98G= | |
2 | g.202464923G>T | CA350399362 | BMPR2 | c.191G>T (p.Ser64Ile) c.116G>T (p.Ser39Ile) n.98G>T | dbSNP gnomAD v4 |
2 | g.202464924C>A | CA350399364 | BMPR2 | c.192C>A (p.Ser64Arg) c.117C>A (p.Ser39Arg) n.99C>A | |
2 | g.202464924C= | CA1321507733 | BMPR2 | c.192C= (p.Ser64=) c.117C= (p.Ser39=) n.99C= | |
2 | g.202464924C>G | CA350399365 | BMPR2 | c.192C>G (p.Ser64Arg) c.117C>G (p.Ser39Arg) n.99C>G | |
2 | g.202464924C>T | CA2061049 | BMPR2 | c.192C>T (p.Ser64=) c.117C>T (p.Ser39=) n.99C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202464925del | CA645531964 | BMPR2 | c.193del (p.Thr65ProfsTer13) c.118del (p.Thr40ProfsTer13) n.100del | COSMIC |
2 | g.202464925A>C | CA350399366 | BMPR2 | c.193A>C (p.Thr65Pro) c.118A>C (p.Thr40Pro) n.100A>C | |
2 | g.202464925A>G | CA350399367 | BMPR2 | c.193A>G (p.Thr65Ala) c.118A>G (p.Thr40Ala) n.100A>G | |
2 | g.202464925A>T | CA350399368 | BMPR2 | c.193A>T (p.Thr65Ser) c.118A>T (p.Thr40Ser) n.100A>T | |
2 | g.202464926C>A | CA350399369 | BMPR2 | c.194C>A (p.Thr65Asn) c.119C>A (p.Thr40Asn) n.101C>A | |
2 | g.202464926C= | CA1321507737 | BMPR2 | c.194C= (p.Thr65=) c.119C= (p.Thr40=) n.101C= | |
2 | g.202464926C>G | CA350399370 | BMPR2 | c.194C>G (p.Thr65Ser) c.119C>G (p.Thr40Ser) n.101C>G | dbSNP gnomAD v2 |
2 | g.202464926C>T | CA350399371 | BMPR2 | c.194C>T (p.Thr65Ile) c.119C>T (p.Thr40Ile) n.101C>T | gnomAD v4 |
2 | g.202464927C>A | CA430903640 | BMPR2 | c.195C>A (p.Thr65=) c.120C>A (p.Thr40=) n.102C>A | |
2 | g.202464927C>G | CA430903641 | BMPR2 | c.195C>G (p.Thr65=) c.120C>G (p.Thr40=) n.102C>G | |
2 | g.202464927C>T | CA430903642 | BMPR2 | c.195C>T (p.Thr65=) c.120C>T (p.Thr40=) n.102C>T | |
2 | g.202464928T>A | CA350399372 | BMPR2 | c.196T>A (p.Cys66Ser) c.121T>A (p.Cys41Ser) n.103T>A | |
2 | g.202464928T>C | CA350399373 | BMPR2 | c.196T>C (p.Cys66Arg) c.121T>C (p.Cys41Arg) n.103T>C | ClinVar dbSNP |
2 | g.202464928T>G | CA350399374 | BMPR2 | c.196T>G (p.Cys66Gly) c.121T>G (p.Cys41Gly) n.103T>G | ClinVar dbSNP |
2 | g.202464928T= | CA1321507742 | BMPR2 | c.196T= (p.Cys66=) c.121T= (p.Cys41=) n.103T= | |
2 | g.202464929G>A | CA350399375 | BMPR2 | c.197G>A (p.Cys66Tyr) c.122G>A (p.Cys41Tyr) n.104G>A | ClinVar dbSNP |
2 | g.202464929G>C | CA350399377 | BMPR2 | c.197G>C (p.Cys66Ser) c.122G>C (p.Cys41Ser) n.104G>C | |
2 | g.202464929G= | CA1321507747 | BMPR2 | c.197G= (p.Cys66=) c.122G= (p.Cys41=) n.104G= | |
2 | g.202464929G>T | CA350399376 | BMPR2 | c.197G>T (p.Cys66Phe) c.122G>T (p.Cys41Phe) n.104G>T | |
2 | g.202464930C>A | CA350399378 | BMPR2 | c.198C>A (p.Cys66Ter) c.123C>A (p.Cys41Ter) n.105C>A | |
2 | g.202464930C= | CA1321507752 | BMPR2 | c.198C= (p.Cys66=) c.123C= (p.Cys41=) n.105C= | |
2 | g.202464930C>G | CA350399379 | BMPR2 | c.198C>G (p.Cys66Trp) c.123C>G (p.Cys41Trp) n.105C>G | |
2 | g.202464930C>T | CA430903643 | BMPR2 | c.198C>T (p.Cys66=) c.123C>T (p.Cys41=) n.105C>T | ClinVar dbSNP |
2 | g.202464931T>A | CA350399380 | BMPR2 | c.199T>A (p.Tyr67Asn) c.124T>A (p.Tyr42Asn) n.106T>A | |
2 | g.202464931T>C | CA350399381 | BMPR2 | c.199T>C (p.Tyr67His) c.124T>C (p.Tyr42His) n.106T>C | ClinVar dbSNP |
2 | g.202464931T>G | CA350399382 | BMPR2 | c.199T>G (p.Tyr67Asp) c.124T>G (p.Tyr42Asp) n.106T>G | |
2 | g.202464931T= | CA1321507757 | BMPR2 | c.199T= (p.Tyr67=) c.124T= (p.Tyr42=) n.106T= | |
2 | g.202464931dup | CA2586965533 | BMPR2 | c.199dup (p.Tyr67LeufsTer?) c.124dup (p.Tyr42LeufsTer?) n.106dup | |
2 | g.202464932A= | CA1321507769 | BMPR2 | c.200A= (p.Tyr67=) c.125A= (p.Tyr42=) n.107A= | |
2 | g.202464932A>C | CA350399383 | BMPR2 | c.200A>C (p.Tyr67Ser) c.125A>C (p.Tyr42Ser) n.107A>C | |
2 | g.202464932A>G | CA350399384 | BMPR2 | c.200A>G (p.Tyr67Cys) c.125A>G (p.Tyr42Cys) n.107A>G | ClinVar dbSNP gnomAD v4 |
2 | g.202464932A>T | CA350399385 | BMPR2 | c.200A>T (p.Tyr67Phe) c.125A>T (p.Tyr42Phe) n.107A>T | |
2 | g.202464932dup | CA645293996 | BMPR2 | c.200dup (p.Tyr67Ter) c.125dup (p.Tyr42Ter) n.107dup | ClinVar dbSNP |
2 | g.202464933T>A | CA350399386 | BMPR2 | c.201T>A (p.Tyr67Ter) c.126T>A (p.Tyr42Ter) n.108T>A | |
2 | g.202464933T>C | CA430903644 | BMPR2 | c.201T>C (p.Tyr67=) c.126T>C (p.Tyr42=) n.108T>C | |
2 | g.202464933T>G | CA350399387 | BMPR2 | c.201T>G (p.Tyr67Ter) c.126T>G (p.Tyr42Ter) n.108T>G | ClinVar dbSNP |
2 | g.202464933T= | CA1321507777 | BMPR2 | c.201T= (p.Tyr67=) c.126T= (p.Tyr42=) n.108T= | |
2 | g.202464934G>A | CA2061050 | BMPR2 | c.202G>A (p.Gly68Ser) c.127G>A (p.Gly43Ser) n.109G>A | dbSNP ExAC gnomAD v2 |
2 | g.202464934G>C | CA350399389 | BMPR2 | c.202G>C (p.Gly68Arg) c.127G>C (p.Gly43Arg) n.109G>C | |
2 | g.202464934G= | CA1321507782 | BMPR2 | c.202G= (p.Gly68=) c.127G= (p.Gly43=) n.109G= | |
2 | g.202464934G>T | CA350399388 | BMPR2 | c.202G>T (p.Gly68Cys) c.127G>T (p.Gly43Cys) n.109G>T | |
2 | g.202464935del | CA2586965534 | BMPR2 | c.203del (p.Gly68AlafsTer10) c.128del (p.Gly43AlafsTer10) n.110del | |
2 | g.202464935G>A | CA350399390 | BMPR2 | c.203G>A (p.Gly68Asp) c.128G>A (p.Gly43Asp) n.110G>A | ClinVar dbSNP COSMIC |
2 | g.202464935G>C | CA350399391 | BMPR2 | c.203G>C (p.Gly68Ala) c.128G>C (p.Gly43Ala) n.110G>C | |
2 | g.202464935G= | CA1321507795 | BMPR2 | c.203G= (p.Gly68=) c.128G= (p.Gly43=) n.110G= | |
2 | g.202464935G>T | CA350399392 | BMPR2 | c.203G>T (p.Gly68Val) c.128G>T (p.Gly43Val) n.110G>T | |
2 | g.202464936C>A | CA430903645 | BMPR2 | c.204C>A (p.Gly68=) c.129C>A (p.Gly43=) n.111C>A | |
2 | g.202464936C>G | CA430903647 | BMPR2 | c.204C>G (p.Gly68=) c.129C>G (p.Gly43=) n.111C>G | |
2 | g.202464936C>T | CA430903646 | BMPR2 | c.204C>T (p.Gly68=) c.129C>T (p.Gly43=) n.111C>T | |
2 | g.202464937C>A | CA350399393 | BMPR2 | c.205C>A (p.Leu69Ile) c.130C>A (p.Leu44Ile) n.112C>A | |
2 | g.202464937C>G | CA350399394 | BMPR2 | c.205C>G (p.Leu69Val) c.130C>G (p.Leu44Val) n.112C>G | |
2 | g.202464937C>T | CA350399395 | BMPR2 | c.205C>T (p.Leu69Phe) c.130C>T (p.Leu44Phe) n.112C>T | |
2 | g.202464938T>A | CA350399396 | BMPR2 | c.206T>A (p.Leu69His) c.131T>A (p.Leu44His) n.113T>A | |
2 | g.202464938T>C | CA350399397 | BMPR2 | c.206T>C (p.Leu69Pro) c.131T>C (p.Leu44Pro) n.113T>C | |
2 | g.202464938T>G | CA350399398 | BMPR2 | c.206T>G (p.Leu69Arg) c.131T>G (p.Leu44Arg) n.113T>G | |
2 | g.202464939T>A | CA430903649 | BMPR2 | c.207T>A (p.Leu69=) c.132T>A (p.Leu44=) n.114T>A | |
2 | g.202464939T>C | CA430903650 | BMPR2 | c.207T>C (p.Leu69=) c.132T>C (p.Leu44=) n.114T>C | |
2 | g.202464939T>G | CA430903651 | BMPR2 | c.207T>G (p.Leu69=) c.132T>G (p.Leu44=) n.114T>G | |
2 | g.202464940T>A | CA350399399 | BMPR2 | c.208T>A (p.Trp70Arg) c.133T>A (p.Trp45Arg) n.115T>A | |
2 | g.202464940T>C | CA350399400 | BMPR2 | c.208T>C (p.Trp70Arg) c.133T>C (p.Trp45Arg) n.115T>C | |
2 | g.202464940T>G | CA350399401 | BMPR2 | c.208T>G (p.Trp70Gly) c.133T>G (p.Trp45Gly) n.115T>G | |
2 | g.202464941G>A | CA350399403 | BMPR2 | c.209G>A (p.Trp70Ter) c.134G>A (p.Trp45Ter) n.116G>A | |
2 | g.202464941G>C | CA350399404 | BMPR2 | c.209G>C (p.Trp70Ser) c.134G>C (p.Trp45Ser) n.116G>C | |
2 | g.202464941G>T | CA350399402 | BMPR2 | c.209G>T (p.Trp70Leu) c.134G>T (p.Trp45Leu) n.116G>T | |
2 | g.202464943del | CA2586965535 | BMPR2 | c.211del (p.Glu71ArgfsTer7) c.136del (p.Glu46ArgfsTer7) n.118del | |
2 | g.202464942G>A | CA350399405 | BMPR2 | c.210G>A (p.Trp70Ter) c.135G>A (p.Trp45Ter) n.117G>A | |
2 | g.202464942G>C | CA350399406 | BMPR2 | c.210G>C (p.Trp70Cys) c.135G>C (p.Trp45Cys) n.117G>C | |
2 | g.202464942G>T | CA350399407 | BMPR2 | c.210G>T (p.Trp70Cys) c.135G>T (p.Trp45Cys) n.117G>T | |
2 | g.202464943G>A | CA350399408 | BMPR2 | c.211G>A (p.Glu71Lys) c.136G>A (p.Glu46Lys) n.118G>A | ClinVar dbSNP gnomAD v4 |
2 | g.202464943G>C | CA350399409 | BMPR2 | c.211G>C (p.Glu71Gln) c.136G>C (p.Glu46Gln) n.118G>C | gnomAD v4 |
2 | g.202464943G= | CA1321507799 | BMPR2 | c.211G= (p.Glu71=) c.136G= (p.Glu46=) n.118G= | |
2 | g.202464943G>T | CA350399410 | BMPR2 | c.211G>T (p.Glu71Ter) c.136G>T (p.Glu46Ter) n.118G>T | |
2 | g.202464944A= | CA1321507807 | BMPR2 | c.212A= (p.Glu71=) c.137A= (p.Glu46=) n.119A= | |
2 | g.202464944A>C | CA2061051 | BMPR2 | c.212A>C (p.Glu71Ala) c.137A>C (p.Glu46Ala) n.119A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202464944A>G | CA350399412 | BMPR2 | c.212A>G (p.Glu71Gly) c.137A>G (p.Glu46Gly) n.119A>G | |
2 | g.202464944A>T | CA350399411 | BMPR2 | c.212A>T (p.Glu71Val) c.137A>T (p.Glu46Val) n.119A>T | |
2 | g.202464945G>A | CA430903652 | BMPR2 | c.213G>A (p.Glu71=) c.138G>A (p.Glu46=) n.120G>A | |
2 | g.202464945G>C | CA350399413 | BMPR2 | c.213G>C (p.Glu71Asp) c.138G>C (p.Glu46Asp) n.120G>C | |
2 | g.202464945G>T | CA350399414 | BMPR2 | c.213G>T (p.Glu71Asp) c.138G>T (p.Glu46Asp) n.120G>T | |
2 | g.202464946A>C | CA350399415 | BMPR2 | c.214A>C (p.Lys72Gln) c.139A>C (p.Lys47Gln) n.121A>C | |
2 | g.202464946A>G | CA350399416 | BMPR2 | c.214A>G (p.Lys72Glu) c.139A>G (p.Lys47Glu) n.121A>G | |
2 | g.202464946A>T | CA350399417 | BMPR2 | c.214A>T (p.Lys72Ter) c.139A>T (p.Lys47Ter) n.121A>T | |
2 | g.202464947A>C | CA350399419 | BMPR2 | c.215A>C (p.Lys72Thr) c.140A>C (p.Lys47Thr) n.122A>C | |
2 | g.202464947A>G | CA350399420 | BMPR2 | c.215A>G (p.Lys72Arg) c.140A>G (p.Lys47Arg) n.122A>G | |
2 | g.202464947A>T | CA350399418 | BMPR2 | c.215A>T (p.Lys72Ile) c.140A>T (p.Lys47Ile) n.122A>T | |
2 | g.202464948A>C | CA350399422 | BMPR2 | c.216A>C (p.Lys72Asn) c.141A>C (p.Lys47Asn) n.123A>C | |
2 | g.202464948A>G | CA430903653 | BMPR2 | c.216A>G (p.Lys72=) c.141A>G (p.Lys47=) n.123A>G | |
2 | g.202464948A>T | CA350399421 | BMPR2 | c.216A>T (p.Lys72Asn) c.141A>T (p.Lys47Asn) n.123A>T | |
2 | g.202464949T>A | CA350399424 | BMPR2 | c.217T>A (p.Ser73Thr) c.142T>A (p.Ser48Thr) n.124T>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202464949T>C | CA350399423 | BMPR2 | c.217T>C (p.Ser73Pro) c.142T>C (p.Ser48Pro) n.124T>C | |
2 | g.202464949T>G | CA350399425 | BMPR2 | c.217T>G (p.Ser73Ala) c.142T>G (p.Ser48Ala) n.124T>G | |
2 | g.202464949T= | CA1321507812 | BMPR2 | c.217T= (p.Ser73=) c.142T= (p.Ser48=) n.124T= | |
2 | g.202464950C>A | CA350399426 | BMPR2 | c.218C>A (p.Ser73Ter) c.143C>A (p.Ser48Ter) n.125C>A | ClinVar dbSNP |
2 | g.202464950C= | CA1321507820 | BMPR2 | c.218C= (p.Ser73=) c.143C= (p.Ser48=) n.125C= | |
2 | g.202464950C>G | CA278072 | BMPR2 | c.218C>G (p.Ser73Ter) c.143C>G (p.Ser48Ter) n.125C>G | ClinVar dbSNP |
2 | g.202464950C>T | CA350399427 | BMPR2 | c.218C>T (p.Ser73Leu) c.143C>T (p.Ser48Leu) n.125C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202464951A= | CA1321507829 | BMPR2 | c.219A= (p.Ser73=) c.144A= (p.Ser48=) n.126A= | |
2 | g.202464951A>C | CA430903654 | BMPR2 | c.219A>C (p.Ser73=) c.144A>C (p.Ser48=) n.126A>C | |
2 | g.202464951A>G | CA2061052 | BMPR2 | c.219A>G (p.Ser73=) c.144A>G (p.Ser48=) n.126A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202464951A>T | CA430903655 | BMPR2 | c.219A>T (p.Ser73=) c.144A>T (p.Ser48=) n.126A>T | |
2 | g.202464952A= | CA1321507843 | BMPR2 | c.220A= (p.Lys74=) c.145A= (p.Lys49=) n.127A= | |
2 | g.202464952A>C | CA350399428 | BMPR2 | c.220A>C (p.Lys74Gln) c.145A>C (p.Lys49Gln) n.127A>C | |
2 | g.202464952A>G | CA2061053 | BMPR2 | c.220A>G (p.Lys74Glu) c.145A>G (p.Lys49Glu) n.127A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202464952A>T | CA350399429 | BMPR2 | c.220A>T (p.Lys74Ter) c.145A>T (p.Lys49Ter) n.127A>T | |
2 | g.202464953A>C | CA350399432 | BMPR2 | c.221A>C (p.Lys74Thr) c.146A>C (p.Lys49Thr) n.128A>C | |
2 | g.202464953A>G | CA350399430 | BMPR2 | c.221A>G (p.Lys74Arg) c.146A>G (p.Lys49Arg) n.128A>G | |
2 | g.202464953A>T | CA350399431 | BMPR2 | c.221A>T (p.Lys74Ile) c.146A>T (p.Lys49Ile) n.128A>T | |
2 | g.202464954A>C | CA350399433 | BMPR2 | c.222A>C (p.Lys74Asn) c.147A>C (p.Lys49Asn) n.129A>C | |
2 | g.202464954A>G | CA430903656 | BMPR2 | c.222A>G (p.Lys74=) c.147A>G (p.Lys49=) n.129A>G | |
2 | g.202464954A>T | CA350399434 | BMPR2 | c.222A>T (p.Lys74Asn) c.147A>T (p.Lys49Asn) n.129A>T | |
2 | g.202464955G>A | CA350399435 | BMPR2 | c.223G>A (p.Gly75Arg) c.148G>A (p.Gly50Arg) n.130G>A | |
2 | g.202464955G>C | CA350399436 | BMPR2 | c.223G>C (p.Gly75Arg) c.148G>C (p.Gly50Arg) n.130G>C | |
2 | g.202464955G>T | CA350399437 | BMPR2 | c.223G>T (p.Gly75Trp) c.148G>T (p.Gly50Trp) n.130G>T | |
2 | g.202464958del | CA2577215498 | BMPR2 | c.226del (p.Asp76ThrfsTer2) c.151del (p.Asp51ThrfsTer2) n.133del | |
2 | g.202464956G>A | CA350399438 | BMPR2 | c.224G>A (p.Gly75Glu) c.149G>A (p.Gly50Glu) n.131G>A | gnomAD v4 COSMIC |
2 | g.202464956G>C | CA2061054 | BMPR2 | c.224G>C (p.Gly75Ala) c.149G>C (p.Gly50Ala) n.131G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202464956G= | CA1321507850 | BMPR2 | c.224G= (p.Gly75=) c.149G= (p.Gly50=) n.131G= | |
2 | g.202464956G>T | CA350399439 | BMPR2 | c.224G>T (p.Gly75Val) c.149G>T (p.Gly50Val) n.131G>T | |
2 | g.202464957G>A | CA430903657 | BMPR2 | c.225G>A (p.Gly75=) c.150G>A (p.Gly50=) n.132G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202464957G>C | CA430903659 | BMPR2 | c.225G>C (p.Gly75=) c.150G>C (p.Gly50=) n.132G>C | gnomAD v4 |
2 | g.202464957G= | CA1321507858 | BMPR2 | c.225G= (p.Gly75=) c.150G= (p.Gly50=) n.132G= | |
2 | g.202464957G>T | CA430903658 | BMPR2 | c.225G>T (p.Gly75=) c.150G>T (p.Gly50=) n.132G>T | |
2 | g.202464958G>A | CA350399440 | BMPR2 | c.226G>A (p.Asp76Asn) c.151G>A (p.Asp51Asn) n.133G>A | |
2 | g.202464958G>C | CA350399441 | BMPR2 | c.226G>C (p.Asp76His) c.151G>C (p.Asp51His) n.133G>C | |
2 | g.202464958G>T | CA350399442 | BMPR2 | c.226G>T (p.Asp76Tyr) c.151G>T (p.Asp51Tyr) n.133G>T | |
2 | g.202464959A>C | CA350399443 | BMPR2 | c.227A>C (p.Asp76Ala) c.152A>C (p.Asp51Ala) n.134A>C | |
2 | g.202464959A>G | CA350399444 | BMPR2 | c.227A>G (p.Asp76Gly) c.152A>G (p.Asp51Gly) n.134A>G | |
2 | g.202464959A>T | CA350399445 | BMPR2 | c.227A>T (p.Asp76Val) c.152A>T (p.Asp51Val) n.134A>T | |
2 | g.202464960C>A | CA350399446 | BMPR2 | c.228C>A (p.Asp76Glu) c.153C>A (p.Asp51Glu) n.135C>A | |
2 | g.202464960C>G | CA350399447 | BMPR2 | c.228C>G (p.Asp76Glu) c.153C>G (p.Asp51Glu) n.135C>G | |
2 | g.202464960C>T | CA430903661 | BMPR2 | c.228C>T (p.Asp76=) c.153C>T (p.Asp51=) n.135C>T | |
2 | g.202464961A= | CA1321507860 | BMPR2 | c.229A= (p.Ile77=) c.154A= (p.Ile52=) n.136A= | |
2 | g.202464961A>C | CA350399448 | BMPR2 | c.229A>C (p.Ile77Leu) c.154A>C (p.Ile52Leu) n.136A>C | |
2 | g.202464961A>G | CA350399449 | BMPR2 | c.229A>G (p.Ile77Val) c.154A>G (p.Ile52Val) n.136A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202464961A>T | CA350399450 | BMPR2 | c.229A>T (p.Ile77Leu) c.154A>T (p.Ile52Leu) n.136A>T | gnomAD v4 |
2 | g.202464962T>A | CA350399451 | BMPR2 | c.230T>A (p.Ile77Lys) c.155T>A (p.Ile52Lys) n.137T>A | |
2 | g.202464962T>C | CA2061055 | BMPR2 | c.230T>C (p.Ile77Thr) c.155T>C (p.Ile52Thr) n.137T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202464962T>G | CA350399452 | BMPR2 | c.230T>G (p.Ile77Arg) c.155T>G (p.Ile52Arg) n.137T>G | |
2 | g.202464962T= | CA1321507864 | BMPR2 | c.230T= (p.Ile77=) c.155T= (p.Ile52=) n.137T= | |
2 | g.202464963A= | CA1321507868 | BMPR2 | c.231A= (p.Ile77=) c.156A= (p.Ile52=) n.138A= | |
2 | g.202464963A>C | CA430903663 | BMPR2 | c.231A>C (p.Ile77=) c.156A>C (p.Ile52=) n.138A>C | |
2 | g.202464963A>G | CA350399453 | BMPR2 | c.231A>G (p.Ile77Met) c.156A>G (p.Ile52Met) n.138A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202464963A>T | CA430903664 | BMPR2 | c.231A>T (p.Ile77=) c.156A>T (p.Ile52=) n.138A>T | |
2 | g.202464965dup | CA2586965537 | BMPR2 | c.233dup (p.Asn78LysfsTer20) c.158dup (p.Asn53LysfsTer22) n.140dup | |
2 | g.202464964A>C | CA350399454 | BMPR2 | c.232A>C (p.Asn78His) c.157A>C (p.Asn53His) n.139A>C | |
2 | g.202464964A>G | CA350399455 | BMPR2 | c.232A>G (p.Asn78Asp) c.157A>G (p.Asn53Asp) n.139A>G | |
2 | g.202464964A>T | CA350399456 | BMPR2 | c.232A>T (p.Asn78Tyr) c.157A>T (p.Asn53Tyr) n.139A>T | |
2 | g.202464965A= | CA1321507872 | BMPR2 | c.233A= (p.Asn78=) c.158A= (p.Asn53=) n.140A= | |
2 | g.202464965A>C | CA350399457 | BMPR2 | c.233A>C (p.Asn78Thr) c.158A>C (p.Asn53Thr) n.140A>C | |
2 | g.202464965A>G | CA350399458 | BMPR2 | c.233A>G (p.Asn78Ser) c.158A>G (p.Asn53Ser) n.140A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202464965A>T | CA350399459 | BMPR2 | c.233A>T (p.Asn78Ile) c.158A>T (p.Asn53Ile) n.140A>T | |
2 | g.202464966T>A | CA350399460 | BMPR2 | c.234T>A (p.Asn78Lys) c.159T>A (p.Asn53Lys) n.141T>A | |
2 | g.202464966T>C | CA430903668 | BMPR2 | c.234T>C (p.Asn78=) c.159T>C (p.Asn53=) n.141T>C | |
2 | g.202464966T>G | CA350399461 | BMPR2 | c.234T>G (p.Asn78Lys) c.159T>G (p.Asn53Lys) n.141T>G | |
2 | g.202464967C>A | CA350399462 | BMPR2 | c.235C>A (p.Leu79Ile) c.160C>A (p.Leu54Ile) n.142C>A | |
2 | g.202464967C= | CA1321507877 | BMPR2 | c.235C= (p.Leu79=) c.160C= (p.Leu54=) n.142C= | |
2 | g.202464967C>G | CA2061056 | BMPR2 | c.235C>G (p.Leu79Val) c.160C>G (p.Leu54Val) n.142C>G | dbSNP ExAC gnomAD v2 |
2 | g.202464967C>T | CA350399463 | BMPR2 | c.235C>T (p.Leu79Phe) c.160C>T (p.Leu54Phe) n.142C>T | ClinVar dbSNP |
2 | g.202464967_202464968delinsCT | CA1321507880 | BMPR2 | c.235_236delinsCT (p.Leu79=) c.160_161delinsCT (p.Leu54=) n.142_143delinsCT | |
2 | g.202464967_202464970delinsCTTG | CA1321507879 | BMPR2 | c.235_238delinsCTTG (p.Leu79=) c.160_163delinsCTTG (p.Leu54=) n.142_145delinsCTTG | |
2 | g.202464968T>A | CA350399466 | BMPR2 | c.236T>A (p.Leu79His) c.161T>A (p.Leu54His) n.143T>A | |
2 | g.202464968T>C | CA350399464 | BMPR2 | c.236T>C (p.Leu79Pro) c.161T>C (p.Leu54Pro) n.143T>C | |
2 | g.202464968T>G | CA350399465 | BMPR2 | c.236T>G (p.Leu79Arg) c.161T>G (p.Leu54Arg) n.143T>G | |
2 | g.202464969del | CA645293998 | BMPR2 | c.237del (p.Val80Ter) c.162del (p.Val55Ter) n.144del | ClinVar dbSNP |
2 | g.202464968_202464970delinsAAAAGGGGACA | CA645293997 | BMPR2 | c.236_238delinsAAAAGGGGACA (p.Leu79GlnfsTer5) c.161_163delinsAAAAGGGGACA (p.Leu54GlnfsTer5) n.143_145delinsAAAAGGGGACA | ClinVar dbSNP |
2 | g.202464969T>A | CA430903672 | BMPR2 | c.237T>A (p.Leu79=) c.162T>A (p.Leu54=) n.144T>A | |
2 | g.202464969T>C | CA430903673 | BMPR2 | c.237T>C (p.Leu79=) c.162T>C (p.Leu54=) n.144T>C | gnomAD v4 |
2 | g.202464969T>G | CA430903674 | BMPR2 | c.237T>G (p.Leu79=) c.162T>G (p.Leu54=) n.144T>G | |
2 | g.202464970G>A | CA64532182 | BMPR2 | c.238G>A (p.Val80Ile) c.163G>A (p.Val55Ile) n.145G>A | dbSNP gnomAD v4 |
2 | g.202464970G>C | CA350399467 | BMPR2 | c.238G>C (p.Val80Leu) c.163G>C (p.Val55Leu) n.145G>C | |
2 | g.202464970G= | CA1321507895 | BMPR2 | c.238G= (p.Val80=) c.163G= (p.Val55=) n.145G= | |
2 | g.202464970G>T | CA350399468 | BMPR2 | c.238G>T (p.Val80Leu) c.163G>T (p.Val55Leu) n.145G>T | |
2 | g.202464971T>A | CA350399469 | BMPR2 | c.239T>A (p.Val80Glu) c.164T>A (p.Val55Glu) n.146T>A | |
2 | g.202464971T>C | CA350399470 | BMPR2 | c.239T>C (p.Val80Ala) c.164T>C (p.Val55Ala) n.146T>C | |
2 | g.202464971T>G | CA350399471 | BMPR2 | c.239T>G (p.Val80Gly) c.164T>G (p.Val55Gly) n.146T>G | |
2 | g.202464972A= | CA1321507901 | BMPR2 | c.240A= (p.Val80=) c.165A= (p.Val55=) n.147A= | |
2 | g.202464972A>C | CA430903677 | BMPR2 | c.240A>C (p.Val80=) c.165A>C (p.Val55=) n.147A>C | |
2 | g.202464972A>G | CA430903676 | BMPR2 | c.240A>G (p.Val80=) c.165A>G (p.Val55=) n.147A>G | gnomAD v4 |
2 | g.202464972A>T | CA430903678 | BMPR2 | c.240A>T (p.Val80=) c.165A>T (p.Val55=) n.147A>T | |
2 | g.202464972_202464973insT | CA645293999 | BMPR2 | c.240_241insT (p.Lys81Ter) c.165_166insT (p.Lys56Ter) n.147_148insT | ClinVar dbSNP |
2 | g.202464973A>C | CA350399472 | BMPR2 | c.241A>C (p.Lys81Gln) c.166A>C (p.Lys56Gln) n.148A>C | |
2 | g.202464973A>G | CA350399473 | BMPR2 | c.241A>G (p.Lys81Glu) c.166A>G (p.Lys56Glu) n.148A>G | |
2 | g.202464973A>T | CA350399474 | BMPR2 | c.241A>T (p.Lys81Ter) c.166A>T (p.Lys56Ter) n.148A>T | |
2 | g.202464974A>C | CA350399475 | BMPR2 | c.242A>C (p.Lys81Thr) c.167A>C (p.Lys56Thr) n.149A>C | |
2 | g.202464974A>G | CA350399476 | BMPR2 | c.242A>G (p.Lys81Arg) c.167A>G (p.Lys56Arg) n.149A>G | |
2 | g.202464974A>T | CA350399477 | BMPR2 | c.242A>T (p.Lys81Ile) c.167A>T (p.Lys56Ile) n.149A>T | |
2 | g.202464975A>C | CA350399479 | BMPR2 | c.243A>C (p.Lys81Asn) c.168A>C (p.Lys56Asn) n.150A>C | |
2 | g.202464975A>G | CA430903680 | BMPR2 | c.243A>G (p.Lys81=) c.168A>G (p.Lys56=) n.150A>G | dbSNP |
2 | g.202464975A>T | CA350399478 | BMPR2 | c.243A>T (p.Lys81Asn) c.168A>T (p.Lys56Asn) n.150A>T | |
2 | g.202464976C>A | CA350399480 | BMPR2 | c.244C>A (p.Gln82Lys) c.169C>A (p.Gln57Lys) n.151C>A | |
2 | g.202464976C= | CA1321507910 | BMPR2 | c.244C= (p.Gln82=) c.169C= (p.Gln57=) n.151C= | |
2 | g.202464976C>G | CA350399482 | BMPR2 | c.244C>G (p.Gln82Glu) c.169C>G (p.Gln57Glu) n.151C>G | |
2 | g.202464976C>T | CA350399481 | BMPR2 | c.244C>T (p.Gln82Ter) c.169C>T (p.Gln57Ter) n.151C>T | ClinVar dbSNP |
2 | g.202464977A>C | CA350399483 | BMPR2 | c.245A>C (p.Gln82Pro) c.170A>C (p.Gln57Pro) n.152A>C | |
2 | g.202464977A>G | CA350399484 | BMPR2 | c.245A>G (p.Gln82Arg) c.170A>G (p.Gln57Arg) n.152A>G | |
2 | g.202464977A>T | CA350399485 | BMPR2 | c.245A>T (p.Gln82Leu) c.170A>T (p.Gln57Leu) n.152A>T | |
2 | g.202464978dup | CA645294000 | BMPR2 | c.246dup (p.Gly83ArgfsTer15) c.171dup (p.Gly58ArgfsTer17) n.153dup | ClinVar dbSNP |
2 | g.202464978A= | CA1321507922 | BMPR2 | c.246A= (p.Gln82=) c.171A= (p.Gln57=) n.153A= | |
2 | g.202464978A>C | CA350399486 | BMPR2 | c.246A>C (p.Gln82His) c.171A>C (p.Gln57His) n.153A>C | ClinVar dbSNP |
2 | g.202464978A>G | CA430903682 | BMPR2 | c.246A>G (p.Gln82=) c.171A>G (p.Gln57=) n.153A>G | |
2 | g.202464978A>T | CA350399487 | BMPR2 | c.246A>T (p.Gln82His) c.171A>T (p.Gln57His) n.153A>T | |
2 | g.202464978_202464985delinsAGGCAAGT | CA1321507925 | BMPR2 | c.246_247+6delinsAGGCAAGT c.171_176+2delinsAGGCAAGT n.153_154+6delinsAGGCAAGT | |
2 | g.202464979G>A | CA350399488 | BMPR2 | c.247G>A (p.Gly83Arg) c.172G>A (p.Gly58Ser) n.154G>A | ClinVar dbSNP |
2 | g.202464979G>C | CA350399489 | BMPR2 | c.247G>C (p.Gly83Arg) c.172G>C (p.Gly58Arg) n.154G>C | |
2 | g.202464979G= | CA1321507937 | BMPR2 | c.247G= (p.Gly83=) c.172G= (p.Gly58=) n.154G= | |
2 | g.202464979G>T | CA350399490 | BMPR2 | c.247G>T (p.Gly83Ter) c.172G>T (p.Gly58Cys) n.154G>T | |
2 | g.202464980_202464986del | CA645294001 | BMPR2 | c.247+1_247+7del c.173_176+3del n.154+1_154+7del | ClinVar dbSNP |
2 | g.202464980G>A | CA350399491 | BMPR2 | c.247+1G>A (n.247+1G>A) c.173G>A (p.Gly58Asp) n.154+1G>A | ClinVar dbSNP |
2 | g.202464980G>C | CA350399492 | BMPR2 | c.247+1G>C (n.247+1G>C) c.173G>C (p.Gly58Ala) n.154+1G>C | |
2 | g.202464980G= | CA1321507938 | BMPR2 | c.247+1G= (n.247+1G=) c.173G= (p.Gly58=) n.154+1G= | |
2 | g.202464980G>T | CA350399493 | BMPR2 | c.247+1G>T (n.247+1G>T) c.173G>T (p.Gly58Val) n.154+1G>T | |
2 | g.202464980_202464981delinsGC | CA1321507940 | BMPR2 | c.247+1_247+2delinsGC (n.247+1_247+2delinsGC) c.173_174delinsGC (p.Gly58=) n.154+1_154+2delinsGC | |
2 | g.202464981_202464986del | CA2586965540 | BMPR2 | c.247+2_247+7del (n.247+2_247+7del) c.174_176+3del n.154+2_154+7del | |
2 | g.202464981del | CA645294002 | BMPR2 | c.247+2del (n.247+2del) c.174del (p.Lys59ArgfsTer19) n.154+2del | ClinVar dbSNP |
2 | g.202464981C>A | CA350399494 | BMPR2 | c.247+2C>A (n.247+2C>A) c.174C>A (p.Gly58=) n.154+2C>A | |
2 | g.202464981C>G | CA350399495 | BMPR2 | c.247+2C>G (n.247+2C>G) c.174C>G (p.Gly58=) n.154+2C>G | |
2 | g.202464981C>T | CA350399496 | BMPR2 | c.247+2C>T (n.247+2C>T) c.174C>T (p.Gly58=) n.154+2C>T | |
2 | g.202464984G>A | CA2586965542 | BMPR2 | c.247+5G>A (n.247+5G>A) c.176+1G>A (n.176+1G>A) n.154+5G>A | |
2 | g.202464985T>A | CA2662703815 | BMPR2 | c.247+6T>A (n.247+6T>A) c.176+2T>A (n.176+2T>A) n.154+6T>A | gnomAD v4 |
2 | g.202464985T>G | CA645294003 | BMPR2 | c.247+6T>G (n.247+6T>G) c.176+2T>G (n.176+2T>G) n.154+6T>G | ClinVar dbSNP |
2 | g.202464985T= | CA1321507952 | BMPR2 | c.247+6T= (n.247+6T=) c.176+2T= (n.176+2T=) n.154+6T= | |
2 | g.202464986G>A | CA2061057 | BMPR2 | c.247+7G>A (n.247+7G>A) c.176+3G>A (n.176+3G>A) n.154+7G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202464986G= | CA1321507960 | BMPR2 | c.247+7G= (n.247+7G=) c.176+3G= (n.176+3G=) n.154+7G= | |
2 | g.202464987A= | CA1321507963 | BMPR2 | c.247+8A= (n.247+8A=) c.176+4A= (n.176+4A=) n.154+8A= | |
2 | g.202464987A>G | CA2061058 | BMPR2 | c.247+8A>G (n.247+8A>G) c.176+4A>G (n.176+4A>G) n.154+8A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202464987A>T | CA2499215569 | BMPR2 | c.247+8A>T (n.247+8A>T) c.176+4A>T (n.176+4A>T) n.154+8A>T | ClinVar dbSNP gnomAD v4 |
2 | g.202464988T>A | CA2662703818 | BMPR2 | c.247+9T>A (n.247+9T>A) c.176+5T>A (n.176+5T>A) n.154+9T>A | gnomAD v4 |