UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.86899961_86900025del | CA2695212257 | BMPR1A | c.431-66_431-2del (n.431-66_431-2del) | |
| 10 | g.86899996_86900005delinsAATTGTTTAC | CA1925715044 | BMPR1A | c.431-31_431-22delinsAATTGTTTAC (n.431-31_431-22delinsAATTGTTTAC) | |
| 10 | g.86900006_86900014del | CA594896307 | BMPR1A | c.431-21_431-13del (n.431-21_431-13del) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.86899998T>C | CA594896308 | BMPR1A | c.431-29T>C (n.431-29T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.86899998T= | CA1925715049 | BMPR1A | c.431-29T= (n.431-29T=) | |
| 10 | g.86899999T>C | CA2574643886 | BMPR1A | c.431-28T>C (n.431-28T>C) | |
| 10 | g.86900001T>A | CA5585523 | BMPR1A | c.431-26T>A (n.431-26T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.86900001T>C | CA2580956674 | BMPR1A | c.431-26T>C (n.431-26T>C) | |
| 10 | g.86900001T>G | CA2580956673 | BMPR1A | c.431-26T>G (n.431-26T>G) | |
| 10 | g.86900001T= | CA1925715050 | BMPR1A | c.431-26T= (n.431-26T=) | |
| 10 | g.86900003T>C | CA1925715052 | BMPR1A | c.431-24T>C (n.431-24T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.86900003T= | CA1925715051 | BMPR1A | c.431-24T= (n.431-24T=) | |
| 10 | g.86900005C>T | CA2722465858 | BMPR1A | c.431-22C>T (n.431-22C>T) | dbSNP |
| 10 | g.86900008del | CA2610001400 | BMPR1A | c.431-19del (n.431-19del) | gnomAD v4 |
| 10 | g.86900008T>C | CA2610001401 | BMPR1A | c.431-19T>C (n.431-19T>C) | gnomAD v4 |
| 10 | g.86900009G>A | CA2573145698 | BMPR1A | c.431-18G>A (n.431-18G>A) | ClinVar dbSNP |
| 10 | g.86900010T>C | CA2580082113 | BMPR1A | c.431-17T>C (n.431-17T>C) | ClinVar |
| 10 | g.86900010T>G | CA669476272 | BMPR1A | c.431-17T>G (n.431-17T>G) | dbSNP |
| 10 | g.86900010T= | CA1925715053 | BMPR1A | c.431-17T= (n.431-17T=) | |
| 10 | g.86900011T>G | CA2610001402 | BMPR1A | c.431-16T>G (n.431-16T>G) | gnomAD v4 |
| 10 | g.86900012T>C | CA1925715055 | BMPR1A | c.431-15T>C (n.431-15T>C) | ClinVar dbSNP |
| 10 | g.86900012T= | CA1925715054 | BMPR1A | c.431-15T= (n.431-15T=) | |
| 10 | g.86900013_86900014delinsAC | CA1925715056 | BMPR1A | c.431-14_431-13delinsAC (n.431-14_431-13delinsAC) | |
| 10 | g.86900014del | CA594896309 | BMPR1A | c.431-13del (n.431-13del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.86900014C>A | CA915947538 | BMPR1A | c.431-13C>A (n.431-13C>A) | ClinVar dbSNP |
| 10 | g.86900014C= | CA1925715057 | BMPR1A | c.431-13C= (n.431-13C=) | |
| 10 | g.86900014C>T | CA2722369112 | BMPR1A | c.431-13C>T (n.431-13C>T) | dbSNP |
| 10 | g.86900015T>A | CA594896310 | BMPR1A | c.431-12T>A (n.431-12T>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.86900015T= | CA1925715058 | BMPR1A | c.431-12T= (n.431-12T=) | |
| 10 | g.86900019_86900020delinsAT | CA1925715059 | BMPR1A | c.431-8_431-7delinsAT (n.431-8_431-7delinsAT) | |
| 10 | g.86900020T>C | CA913188299 | BMPR1A | c.431-7T>C (n.431-7T>C) | ClinVar dbSNP gnomAD v4 |
| 10 | g.86900020T= | CA1925715060 | BMPR1A | c.431-7T= (n.431-7T=) | |
| 10 | g.86900021del | CA1925715061 | BMPR1A | c.431-6del (n.431-6del) | ClinVar dbSNP |
| 10 | g.86900021T>A | CA915947539 | BMPR1A | c.431-6T>A (n.431-6T>A) | ClinVar dbSNP |
| 10 | g.86900021T>C | CA2573145699 | BMPR1A | c.431-6T>C (n.431-6T>C) | ClinVar dbSNP |
| 10 | g.86900021T= | CA1925715062 | BMPR1A | c.431-6T= (n.431-6T=) | |
| 10 | g.86900022G>A | CA167885 | BMPR1A | c.431-5G>A (n.431-5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.86900022G= | CA1925715063 | BMPR1A | c.431-5G= (n.431-5G=) | |
| 10 | g.86900022G>T | CA16605707 | BMPR1A | c.431-5G>T (n.431-5G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.86900023T>G | CA1925715065 | BMPR1A | c.431-4T>G (n.431-4T>G) | dbSNP |
| 10 | g.86900023T= | CA1925715064 | BMPR1A | c.431-4T= (n.431-4T=) | |
| 10 | g.86900024C= | CA1925715066 | BMPR1A | c.431-3C= (n.431-3C=) | |
| 10 | g.86900024C>G | CA10578880 | BMPR1A | c.431-3C>G (n.431-3C>G) | ClinVar dbSNP |
| 10 | g.86900024C>T | CA915947540 | BMPR1A | c.431-3C>T (n.431-3C>T) | ClinVar dbSNP |
| 10 | g.86900025A>C | CA377450012 | BMPR1A | c.431-2A>C (n.431-2A>C) | |
| 10 | g.86900025A>G | CA377450023 | BMPR1A | c.431-2A>G (n.431-2A>G) | |
| 10 | g.86900025A>T | CA377450014 | BMPR1A | c.431-2A>T (n.431-2A>T) | ClinVar |
| 10 | g.86900026G>A | CA377450025 | BMPR1A | c.431-1G>A (n.431-1G>A) | ClinVar |
| 10 | g.86900026G>C | CA377450027 | BMPR1A | c.431-1G>C (n.431-1G>C) | ClinVar |
| 10 | g.86900026G>T | CA377450028 | BMPR1A | c.431-1G>T (n.431-1G>T) | |
| 10 | g.86900027G>A | CA377450031 | BMPR1A | c.431G>A (p.Gly144Asp) | ClinVar |
| 10 | g.86900027G>C | CA377450032 | BMPR1A | c.431G>C (p.Gly144Ala) | |
| 10 | g.86900027G= | CA1925715067 | BMPR1A | c.431G= (p.Gly144=) | |
| 10 | g.86900027G>T | CA377450036 | BMPR1A | c.431G>T (p.Gly144Val) | ClinVar dbSNP |
| 10 | g.86900028T>A | CA470306960 | BMPR1A | c.432T>A (p.Gly144=) | |
| 10 | g.86900028T>C | CA470306961 | BMPR1A | c.432T>C (p.Gly144=) | ClinVar dbSNP |
| 10 | g.86900028T>G | CA211190938 | BMPR1A | c.432T>G (p.Gly144=) | dbSNP gnomAD v2 |
| 10 | g.86900028T= | CA1925715068 | BMPR1A | c.432T= (p.Gly144=) | |
| 10 | g.86900029C>A | CA377450044 | BMPR1A | c.433C>A (p.Pro145Thr) | |
| 10 | g.86900029C>G | CA377450053 | BMPR1A | c.433C>G (p.Pro145Ala) | |
| 10 | g.86900029C>T | CA377450052 | BMPR1A | c.433C>T (p.Pro145Ser) | ClinVar |
| 10 | g.86900030C>A | CA377450054 | BMPR1A | c.434C>A (p.Pro145Gln) | ClinVar dbSNP |
| 10 | g.86900030C= | CA1925715069 | BMPR1A | c.434C= (p.Pro145=) | |
| 10 | g.86900030C>G | CA377450056 | BMPR1A | c.434C>G (p.Pro145Arg) | |
| 10 | g.86900030C>T | CA377450058 | BMPR1A | c.434C>T (p.Pro145Leu) | ClinVar dbSNP gnomAD v4 |
| 10 | g.86900031del | CA2695212258 | BMPR1A | c.435del (p.Phe147LeufsTer18) | |
| 10 | g.86900031G>A | CA186187 | BMPR1A | c.435G>A (p.Pro145=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.86900031G>C | CA470306968 | BMPR1A | c.435G>C (p.Pro145=) | |
| 10 | g.86900031G= | CA1925715070 | BMPR1A | c.435G= (p.Pro145=) | |
| 10 | g.86900031G>T | CA470306970 | BMPR1A | c.435G>T (p.Pro145=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.86900031_86900032delinsGT | CA1925715071 | BMPR1A | c.435_436delinsGT (p.Pro145=) | |
| 10 | g.86900032T>A | CA377450067 | BMPR1A | c.436T>A (p.Phe146Ile) | |
| 10 | g.86900032T>C | CA377450072 | BMPR1A | c.436T>C (p.Phe146Leu) | |
| 10 | g.86900032T>G | CA377450070 | BMPR1A | c.436T>G (p.Phe146Val) | ClinVar dbSNP |
| 10 | g.86900032T= | CA1925715072 | BMPR1A | c.436T= (p.Phe146=) | |
| 10 | g.86900037dup | CA2788868733 | BMPR1A | c.441dup (p.Asp148Ter) | |
| 10 | g.86900037del | CA5585524 | BMPR1A | c.441del (p.Phe147LeufsTer18) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.86900033T>A | CA377450074 | BMPR1A | c.437T>A (p.Phe146Tyr) | |
| 10 | g.86900033T>C | CA157465 | BMPR1A | c.437T>C (p.Phe146Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.86900033T>G | CA377450077 | BMPR1A | c.437T>G (p.Phe146Cys) | |
| 10 | g.86900033T= | CA1925715073 | BMPR1A | c.437T= (p.Phe146=) | |
| 10 | g.86900034T>A | CA377450084 | BMPR1A | c.438T>A (p.Phe146Leu) | |
| 10 | g.86900034T>C | CA470306978 | BMPR1A | c.438T>C (p.Phe146=) | |
| 10 | g.86900034T>G | CA377450088 | BMPR1A | c.438T>G (p.Phe146Leu) | ClinVar dbSNP |
| 10 | g.86900034T= | CA1925715074 | BMPR1A | c.438T= (p.Phe146=) | |
| 10 | g.86900035T>A | CA377450103 | BMPR1A | c.439T>A (p.Phe147Ile) | |
| 10 | g.86900035T>C | CA377450104 | BMPR1A | c.439T>C (p.Phe147Leu) | |
| 10 | g.86900035T>G | CA377450108 | BMPR1A | c.439T>G (p.Phe147Val) | |
| 10 | g.86900036T>A | CA377450121 | BMPR1A | c.440T>A (p.Phe147Tyr) | |
| 10 | g.86900036T>C | CA5585525 | BMPR1A | c.440T>C (p.Phe147Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.86900036T>G | CA377450126 | BMPR1A | c.440T>G (p.Phe147Cys) | |
| 10 | g.86900036T= | CA1925715075 | BMPR1A | c.440T= (p.Phe147=) | |
| 10 | g.86900036_86900054delinsTTGATGGCAGCATTCGATG | CA1925715076 | BMPR1A | c.440_458delinsTTGATGGCAGCATTCGATG (p.Phe147=) | |
| 10 | g.86900037T>A | CA377450128 | BMPR1A | c.441T>A (p.Phe147Leu) | |
| 10 | g.86900037T>C | CA470306984 | BMPR1A | c.441T>C (p.Phe147=) | ClinVar dbSNP |
| 10 | g.86900037T>G | CA377450127 | BMPR1A | c.441T>G (p.Phe147Leu) | |
| 10 | g.86900037T= | CA1925715078 | BMPR1A | c.441T= (p.Phe147=) | |
| 10 | g.86900037_86900054delinsGA | CA645369424 | BMPR1A | c.441_458delinsGA (p.Phe147LeufsTer13) | ClinVar dbSNP |
| 10 | g.86900038G>A | CA377450130 | BMPR1A | c.442G>A (p.Asp148Asn) | |
| 10 | g.86900038G>C | CA377450136 | BMPR1A | c.442G>C (p.Asp148His) | |
| 10 | g.86900038G>T | CA377450132 | BMPR1A | c.442G>T (p.Asp148Tyr) | |
| 10 | g.86900039A= | CA1925715079 | BMPR1A | c.443A= (p.Asp148=) | |
| 10 | g.86900039A>C | CA377450141 | BMPR1A | c.443A>C (p.Asp148Ala) | |
| 10 | g.86900039A>G | CA377450146 | BMPR1A | c.443A>G (p.Asp148Gly) | ClinVar dbSNP |
| 10 | g.86900039A>T | CA377450143 | BMPR1A | c.443A>T (p.Asp148Val) | gnomAD v4 |
| 10 | g.86900040T>A | CA377450148 | BMPR1A | c.444T>A (p.Asp148Glu) | |
| 10 | g.86900040T>C | CA470306990 | BMPR1A | c.444T>C (p.Asp148=) | gnomAD v4 |
| 10 | g.86900040T>G | CA377450149 | BMPR1A | c.444T>G (p.Asp148Glu) | |
| 10 | g.86900041G>A | CA377450151 | BMPR1A | c.445G>A (p.Gly149Ser) | ClinVar dbSNP |
| 10 | g.86900041G>C | CA377450161 | BMPR1A | c.445G>C (p.Gly149Arg) | |
| 10 | g.86900041G= | CA1925715080 | BMPR1A | c.445G= (p.Gly149=) | |
| 10 | g.86900041G>T | CA377450159 | BMPR1A | c.445G>T (p.Gly149Cys) | |
| 10 | g.86900042G>A | CA377450167 | BMPR1A | c.446G>A (p.Gly149Asp) | |
| 10 | g.86900042G>C | CA377450172 | BMPR1A | c.446G>C (p.Gly149Ala) | |
| 10 | g.86900042G= | CA1925715081 | BMPR1A | c.446G= (p.Gly149=) | |
| 10 | g.86900042G>T | CA5585526 | BMPR1A | c.446G>T (p.Gly149Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.86900043C>A | CA470306998 | BMPR1A | c.447C>A (p.Gly149=) | |
| 10 | g.86900043C= | CA1925715082 | BMPR1A | c.447C= (p.Gly149=) | |
| 10 | g.86900043C>G | CA470306999 | BMPR1A | c.447C>G (p.Gly149=) | |
| 10 | g.86900043C>T | CA470307001 | BMPR1A | c.447C>T (p.Gly149=) | ClinVar dbSNP |
| 10 | g.86900044A>C | CA377450174 | BMPR1A | c.448A>C (p.Ser150Arg) | |
| 10 | g.86900044A>G | CA377450184 | BMPR1A | c.448A>G (p.Ser150Gly) | ClinVar |
| 10 | g.86900044A>T | CA377450176 | BMPR1A | c.448A>T (p.Ser150Cys) | |
| 10 | g.86900045G>A | CA377450188 | BMPR1A | c.449G>A (p.Ser150Asn) | dbSNP |
| 10 | g.86900045G>C | CA377450197 | BMPR1A | c.449G>C (p.Ser150Thr) | |
| 10 | g.86900045G>T | CA377450190 | BMPR1A | c.449G>T (p.Ser150Ile) | |
| 10 | g.86900046C>A | CA377450201 | BMPR1A | c.450C>A (p.Ser150Arg) | |
| 10 | g.86900046C= | CA1925715083 | BMPR1A | c.450C= (p.Ser150=) | |
| 10 | g.86900046C>G | CA377450205 | BMPR1A | c.450C>G (p.Ser150Arg) | dbSNP |
| 10 | g.86900046C>T | CA5585527 | BMPR1A | c.450C>T (p.Ser150=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.86900047A= | CA1925715084 | BMPR1A | c.451A= (p.Ile151=) | |
| 10 | g.86900047A>C | CA377450208 | BMPR1A | c.451A>C (p.Ile151Leu) | |
| 10 | g.86900047A>G | CA377450210 | BMPR1A | c.451A>G (p.Ile151Val) | |
| 10 | g.86900047A>T | CA377450221 | BMPR1A | c.451A>T (p.Ile151Phe) | ClinVar dbSNP |
| 10 | g.86900048T>A | CA377450222 | BMPR1A | c.452T>A (p.Ile151Asn) | |
| 10 | g.86900048T>C | CA377450223 | BMPR1A | c.452T>C (p.Ile151Thr) | ClinVar dbSNP |
| 10 | g.86900048T>G | CA377450224 | BMPR1A | c.452T>G (p.Ile151Ser) | ClinVar |
| 10 | g.86900048T= | CA1925715085 | BMPR1A | c.452T= (p.Ile151=) | |
| 10 | g.86900048_86900049del | CA2573053328 | BMPR1A | c.452_453del (p.Ile151ThrfsTer?) | ClinVar dbSNP |
| 10 | g.86900049T>A | CA470307013 | BMPR1A | c.453T>A (p.Ile151=) | ClinVar |
| 10 | g.86900049T>C | CA470307015 | BMPR1A | c.453T>C (p.Ile151=) | |
| 10 | g.86900049T>G | CA377450225 | BMPR1A | c.453T>G (p.Ile151Met) | |
| 10 | g.86900050C>A | CA470307018 | BMPR1A | c.454C>A (p.Arg152=) | |
| 10 | g.86900050C= | CA1925715089 | BMPR1A | c.454C= (p.Arg152=) | |
| 10 | g.86900050C>G | CA377450228 | BMPR1A | c.454C>G (p.Arg152Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.86900050C>T | CA377450232 | BMPR1A | c.454C>T (p.Arg152Ter) | ClinVar dbSNP |
| 10 | g.86900050_86900051delinsCG | CA1925715094 | BMPR1A | c.454_455delinsCG (p.Arg152=) | |
| 10 | g.86900051del | CA1139661559 | BMPR1A | c.455del (p.Arg152HisfsTer13) | ClinVar dbSNP |
| 10 | g.86900051G>A | CA5585528 | BMPR1A | c.455G>A (p.Arg152Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.86900051G>C | CA377450240 | BMPR1A | c.455G>C (p.Arg152Pro) | gnomAD v4 |
| 10 | g.86900051G= | CA1925715104 | BMPR1A | c.455G= (p.Arg152=) | |
| 10 | g.86900051G>T | CA377450243 | BMPR1A | c.455G>T (p.Arg152Leu) | ClinVar |
| 10 | g.86900052A>C | CA470307021 | BMPR1A | c.456A>C (p.Arg152=) | |
| 10 | g.86900052A>G | CA470307022 | BMPR1A | c.456A>G (p.Arg152=) | ClinVar dbSNP gnomAD v4 |
| 10 | g.86900052A>T | CA470307024 | BMPR1A | c.456A>T (p.Arg152=) | |
| 10 | g.86900053T>A | CA377450252 | BMPR1A | c.457T>A (p.Trp153Arg) | |
| 10 | g.86900053T>C | CA377450245 | BMPR1A | c.457T>C (p.Trp153Arg) | |
| 10 | g.86900053T>G | CA377450247 | BMPR1A | c.457T>G (p.Trp153Gly) | ClinVar dbSNP |
| 10 | g.86900054G>A | CA377450259 | BMPR1A | c.458G>A (p.Trp153Ter) | ClinVar dbSNP |
| 10 | g.86900054G>C | CA377450262 | BMPR1A | c.458G>C (p.Trp153Ser) | |
| 10 | g.86900054G= | CA1925715110 | BMPR1A | c.458G= (p.Trp153=) | |
| 10 | g.86900054G>T | CA377450265 | BMPR1A | c.458G>T (p.Trp153Leu) | |
| 10 | g.86900055G>A | CA377450268 | BMPR1A | c.459G>A (p.Trp153Ter) | dbSNP |
| 10 | g.86900055G>C | CA377450270 | BMPR1A | c.459G>C (p.Trp153Cys) | |
| 10 | g.86900055G>T | CA377450271 | BMPR1A | c.459G>T (p.Trp153Cys) | |
| 10 | g.86900056C>A | CA377450279 | BMPR1A | c.460C>A (p.Leu154Met) | dbSNP |
| 10 | g.86900056C>G | CA377450283 | BMPR1A | c.460C>G (p.Leu154Val) | |
| 10 | g.86900056C>T | CA470307032 | BMPR1A | c.460C>T (p.Leu154=) | |
| 10 | g.86900057T>A | CA377450288 | BMPR1A | c.461T>A (p.Leu154Gln) | |
| 10 | g.86900057T>C | CA377450290 | BMPR1A | c.461T>C (p.Leu154Pro) | |
| 10 | g.86900057T>G | CA377450300 | BMPR1A | c.461T>G (p.Leu154Arg) | |
| 10 | g.86900058G>A | CA470307037 | BMPR1A | c.462G>A (p.Leu154=) | dbSNP |
| 10 | g.86900058G>C | CA470307038 | BMPR1A | c.462G>C (p.Leu154=) | gnomAD v4 |
| 10 | g.86900058G>T | CA470307039 | BMPR1A | c.462G>T (p.Leu154=) | |
| 10 | g.86900059G>A | CA377450313 | BMPR1A | c.463G>A (p.Val155Ile) | |
| 10 | g.86900059G>C | CA377450308 | BMPR1A | c.463G>C (p.Val155Leu) | ClinVar dbSNP |
| 10 | g.86900059G= | CA1925715115 | BMPR1A | c.463G= (p.Val155=) | |
| 10 | g.86900059G>T | CA377450305 | BMPR1A | c.463G>T (p.Val155Phe) | ClinVar dbSNP gnomAD v4 |
| 10 | g.86900060T>A | CA377450324 | BMPR1A | c.464T>A (p.Val155Asp) | gnomAD v4 |
| 10 | g.86900060T>C | CA377450315 | BMPR1A | c.464T>C (p.Val155Ala) | |
| 10 | g.86900060T>G | CA377450322 | BMPR1A | c.464T>G (p.Val155Gly) | dbSNP |
| 10 | g.86900060T= | CA1925715118 | BMPR1A | c.464T= (p.Val155=) | |
| 10 | g.86900061T>A | CA470307046 | BMPR1A | c.465T>A (p.Val155=) | |
| 10 | g.86900061T>C | CA470307047 | BMPR1A | c.465T>C (p.Val155=) | |
| 10 | g.86900061T>G | CA470307049 | BMPR1A | c.465T>G (p.Val155=) | |
| 10 | g.86900062T>A | CA377450327 | BMPR1A | c.466T>A (p.Leu156Met) | |
| 10 | g.86900062T>C | CA470307052 | BMPR1A | c.466T>C (p.Leu156=) | |
| 10 | g.86900062T>G | CA377450328 | BMPR1A | c.466T>G (p.Leu156Val) | |
| 10 | g.86900063T>A | CA377450330 | BMPR1A | c.467T>A (p.Leu156Ter) | |
| 10 | g.86900063T>C | CA377450332 | BMPR1A | c.467T>C (p.Leu156Ser) | |
| 10 | g.86900063T>G | CA377450335 | BMPR1A | c.467T>G (p.Leu156Trp) | |
| 10 | g.86900064G>A | CA470307056 | BMPR1A | c.468G>A (p.Leu156=) | dbSNP |
| 10 | g.86900064G>C | CA377450337 | BMPR1A | c.468G>C (p.Leu156Phe) | |
| 10 | g.86900064G= | CA1925715122 | BMPR1A | c.468G= (p.Leu156=) | |
| 10 | g.86900064G>T | CA377450338 | BMPR1A | c.468G>T (p.Leu156Phe) | ClinVar dbSNP COSMIC COSMIC |
| 10 | g.86900065C>A | CA377450340 | BMPR1A | c.469C>A (p.Leu157Ile) | |
| 10 | g.86900065C= | CA1925715127 | BMPR1A | c.469C= (p.Leu157=) | |
| 10 | g.86900065C>G | CA377450341 | BMPR1A | c.469C>G (p.Leu157Val) | |
| 10 | g.86900065C>T | CA377450342 | BMPR1A | c.469C>T (p.Leu157Phe) | dbSNP |
| 10 | g.86900066T>A | CA377450348 | BMPR1A | c.470T>A (p.Leu157His) | |
| 10 | g.86900066T>C | CA377450350 | BMPR1A | c.470T>C (p.Leu157Pro) | ClinVar dbSNP |
| 10 | g.86900066T>G | CA5585529 | BMPR1A | c.470T>G (p.Leu157Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.86900066T= | CA1925715133 | BMPR1A | c.470T= (p.Leu157=) | |
| 10 | g.86900067C>A | CA470307063 | BMPR1A | c.471C>A (p.Leu157=) | |
| 10 | g.86900067C= | CA1925715135 | BMPR1A | c.471C= (p.Leu157=) | |
| 10 | g.86900067C>G | CA470307066 | BMPR1A | c.471C>G (p.Leu157=) | ClinVar dbSNP gnomAD v4 |
| 10 | g.86900067C>T | CA16612970 | BMPR1A | c.471C>T (p.Leu157=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.86900068A= | CA1925715140 | BMPR1A | c.472A= (p.Ile158=) | |
| 10 | g.86900068A>C | CA377450354 | BMPR1A | c.472A>C (p.Ile158Leu) | ClinVar dbSNP gnomAD v4 |
| 10 | g.86900068A>G | CA377450356 | BMPR1A | c.472A>G (p.Ile158Val) | |
| 10 | g.86900068A>T | CA377450358 | BMPR1A | c.472A>T (p.Ile158Phe) | |
| 10 | g.86900069T>A | CA377450360 | BMPR1A | c.473T>A (p.Ile158Asn) | |
| 10 | g.86900069T>C | CA377450361 | BMPR1A | c.473T>C (p.Ile158Thr) | |
| 10 | g.86900069T>G | CA377450363 | BMPR1A | c.473T>G (p.Ile158Ser) | |
| 10 | g.86900070T>A | CA470307071 | BMPR1A | c.474T>A (p.Ile158=) | |
| 10 | g.86900070T>C | CA5585530 | BMPR1A | c.474T>C (p.Ile158=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.86900070T>G | CA377450367 | BMPR1A | c.474T>G (p.Ile158Met) | |
| 10 | g.86900070T= | CA1925715146 | BMPR1A | c.474T= (p.Ile158=) | |
| 10 | g.86900071T>A | CA377450369 | BMPR1A | c.475T>A (p.Ser159Thr) | ClinVar |
| 10 | g.86900071T>C | CA5585531 | BMPR1A | c.475T>C (p.Ser159Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.86900071T>G | CA377450371 | BMPR1A | c.475T>G (p.Ser159Ala) | dbSNP |
| 10 | g.86900071T= | CA1925715153 | BMPR1A | c.475T= (p.Ser159=) | |
| 10 | g.86900072C>A | CA377450373 | BMPR1A | c.476C>A (p.Ser159Tyr) | |
| 10 | g.86900072C= | CA1925715164 | BMPR1A | c.476C= (p.Ser159=) | |
| 10 | g.86900072C>G | CA377450378 | BMPR1A | c.476C>G (p.Ser159Cys) | |
| 10 | g.86900072C>T | CA377450381 | BMPR1A | c.476C>T (p.Ser159Phe) | ClinVar dbSNP |
| 10 | g.86900073T>A | CA470307078 | BMPR1A | c.477T>A (p.Ser159=) | |
| 10 | g.86900073T>C | CA470307080 | BMPR1A | c.477T>C (p.Ser159=) | gnomAD v4 |
| 10 | g.86900073T>G | CA470307082 | BMPR1A | c.477T>G (p.Ser159=) | |
| 10 | g.86900074A= | CA1925715177 | BMPR1A | c.478A= (p.Met160=) | |
| 10 | g.86900074A>C | CA377450385 | BMPR1A | c.478A>C (p.Met160Leu) | |
| 10 | g.86900074A>G | CA164255 | BMPR1A | c.478A>G (p.Met160Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.86900074A>T | CA377450383 | BMPR1A | c.478A>T (p.Met160Leu) | |
| 10 | g.86900075T>A | CA377450388 | BMPR1A | c.479T>A (p.Met160Lys) | |
| 10 | g.86900075T>C | CA377450393 | BMPR1A | c.479T>C (p.Met160Thr) | ClinVar |
| 10 | g.86900075T>G | CA377450389 | BMPR1A | c.479T>G (p.Met160Arg) | |
| 10 | g.86900075_86900076delinsTG | CA1925715184 | BMPR1A | c.479_480delinsTG (p.Met160=) | |
| 10 | g.86900076G>A | CA377450396 | BMPR1A | c.480G>A (p.Met160Ile) | |
| 10 | g.86900076G>C | CA377450397 | BMPR1A | c.480G>C (p.Met160Ile) | |
| 10 | g.86900076G>T | CA377450400 | BMPR1A | c.480G>T (p.Met160Ile) | |
| 10 | g.86900077del | CA645369425 | BMPR1A | c.481del (p.Ala161LeufsTer4) | ClinVar dbSNP |
| 10 | g.86900077G>A | CA377450402 | BMPR1A | c.481G>A (p.Ala161Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.86900077G>C | CA377450404 | BMPR1A | c.481G>C (p.Ala161Pro) | dbSNP |
| 10 | g.86900077G= | CA1925715194 | BMPR1A | c.481G= (p.Ala161=) | |
| 10 | g.86900077G>T | CA377450406 | BMPR1A | c.481G>T (p.Ala161Ser) | ClinVar dbSNP |
| 10 | g.86900078C>A | CA377450408 | BMPR1A | c.482C>A (p.Ala161Asp) | |
| 10 | g.86900078C= | CA1925715201 | BMPR1A | c.482C= (p.Ala161=) | |
| 10 | g.86900078C>G | CA377450412 | BMPR1A | c.482C>G (p.Ala161Gly) | |
| 10 | g.86900078C>T | CA377450414 | BMPR1A | c.482C>T (p.Ala161Val) | ClinVar dbSNP |
| 10 | g.86900079T>A | CA470307093 | BMPR1A | c.483T>A (p.Ala161=) | |
| 10 | g.86900079T>C | CA470307096 | BMPR1A | c.483T>C (p.Ala161=) | |
| 10 | g.86900079T>G | CA470307095 | BMPR1A | c.483T>G (p.Ala161=) | |
| 10 | g.86900079dup | CA2739275870 | BMPR1A | c.483dup (p.Val162CysfsTer?) | ClinVar |
| 10 | g.86900080G>A | CA377450429 | BMPR1A | c.484G>A (p.Val162Ile) | dbSNP |
| 10 | g.86900080G>C | CA377450437 | BMPR1A | c.484G>C (p.Val162Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.86900080G= | CA1925715206 | BMPR1A | c.484G= (p.Val162=) | |
| 10 | g.86900080G>T | CA377450440 | BMPR1A | c.484G>T (p.Val162Phe) | |
| 10 | g.86900081del | CA2695200863 | BMPR1A | c.485del (p.Val162AlafsTer3) | ClinVar |
| 10 | g.86900081T>A | CA377450460 | BMPR1A | c.485T>A (p.Val162Asp) | COSMIC COSMIC |
| 10 | g.86900081T>C | CA377450452 | BMPR1A | c.485T>C (p.Val162Ala) | |
| 10 | g.86900081T>G | CA377450456 | BMPR1A | c.485T>G (p.Val162Gly) | ClinVar dbSNP gnomAD v4 |
| 10 | g.86900081T= | CA1925715217 | BMPR1A | c.485T= (p.Val162=) | |
| 10 | g.86900082C>A | CA470307103 | BMPR1A | c.486C>A (p.Val162=) | dbSNP |
| 10 | g.86900082C= | CA1925715220 | BMPR1A | c.486C= (p.Val162=) | |
| 10 | g.86900082C>G | CA470307105 | BMPR1A | c.486C>G (p.Val162=) | |
| 10 | g.86900082C>T | CA470307104 | BMPR1A | c.486C>T (p.Val162=) | ClinVar dbSNP gnomAD v4 |
| 10 | g.86900083T>A | CA377450463 | BMPR1A | c.487T>A (p.Cys163Ser) | |
| 10 | g.86900083T>C | CA377450471 | BMPR1A | c.487T>C (p.Cys163Arg) | |
| 10 | g.86900083T>G | CA377450476 | BMPR1A | c.487T>G (p.Cys163Gly) | |
| 10 | g.86900084G>A | CA377450479 | BMPR1A | c.488G>A (p.Cys163Tyr) | dbSNP |
| 10 | g.86900084G>C | CA377450484 | BMPR1A | c.488G>C (p.Cys163Ser) | |
| 10 | g.86900084G= | CA1925715228 | BMPR1A | c.488G= (p.Cys163=) | |
| 10 | g.86900084G>T | CA377450487 | BMPR1A | c.488G>T (p.Cys163Phe) | ClinVar dbSNP |
| 10 | g.86900085C>A | CA377450493 | BMPR1A | c.489C>A (p.Cys163Ter) | |
| 10 | g.86900085C>G | CA377450496 | BMPR1A | c.489C>G (p.Cys163Trp) | |
| 10 | g.86900085C>T | CA470307112 | BMPR1A | c.489C>T (p.Cys163=) | |
| 10 | g.86900086A= | CA1925715239 | BMPR1A | c.490A= (p.Ile164=) | |
| 10 | g.86900086A>C | CA377450500 | BMPR1A | c.490A>C (p.Ile164Leu) | |
| 10 | g.86900086A>G | CA5585532 | BMPR1A | c.490A>G (p.Ile164Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.86900086A>T | CA377450504 | BMPR1A | c.490A>T (p.Ile164Leu) | |
| 10 | g.86900087T>A | CA377450511 | BMPR1A | c.491T>A (p.Ile164Lys) | |
| 10 | g.86900087T>C | CA377450509 | BMPR1A | c.491T>C (p.Ile164Thr) | ClinVar |
| 10 | g.86900087T>G | CA377450508 | BMPR1A | c.491T>G (p.Ile164Arg) | |
| 10 | g.86900088A>C | CA470307120 | BMPR1A | c.492A>C (p.Ile164=) | |
| 10 | g.86900088A>G | CA377450514 | BMPR1A | c.492A>G (p.Ile164Met) | |
| 10 | g.86900088A>T | CA470307122 | BMPR1A | c.492A>T (p.Ile164=) | |
| 10 | g.86900089A>C | CA377450516 | BMPR1A | c.493A>C (p.Ile165Leu) | |
| 10 | g.86900089A>G | CA377450517 | BMPR1A | c.493A>G (p.Ile165Val) | |
| 10 | g.86900089A>T | CA377450518 | BMPR1A | c.493A>T (p.Ile165Phe) | ClinVar |
| 10 | g.86900090T>A | CA377450520 | BMPR1A | c.494T>A (p.Ile165Asn) | |
| 10 | g.86900090T>C | CA377450524 | BMPR1A | c.494T>C (p.Ile165Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.86900090T>G | CA377450527 | BMPR1A | c.494T>G (p.Ile165Ser) | |
| 10 | g.86900090T= | CA1925715246 | BMPR1A | c.494T= (p.Ile165=) | |
| 10 | g.86900091T>A | CA470307128 | BMPR1A | c.495T>A (p.Ile165=) | |
| 10 | g.86900091T>C | CA470307129 | BMPR1A | c.495T>C (p.Ile165=) | ClinVar |
| 10 | g.86900091T>G | CA5585533 | BMPR1A | c.495T>G (p.Ile165Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.86900091T= | CA1925715252 | BMPR1A | c.495T= (p.Ile165=) | |
| 10 | g.86900092G>A | CA211190981 | BMPR1A | c.496G>A (p.Ala166Thr) | ClinVar dbSNP gnomAD v4 |
| 10 | g.86900092G>C | CA377450540 | BMPR1A | c.496G>C (p.Ala166Pro) | |
| 10 | g.86900092G= | CA1925715270 | BMPR1A | c.496G= (p.Ala166=) | |
| 10 | g.86900092G>T | CA377450543 | BMPR1A | c.496G>T (p.Ala166Ser) | ClinVar dbSNP |
| 10 | g.86900093del | CA2573145706 | BMPR1A | c.497del (p.Ala166ValfsTer2) | ClinVar dbSNP |
| 10 | g.86900093C>A | CA377450548 | BMPR1A | c.497C>A (p.Ala166Asp) | |
| 10 | g.86900093C= | CA1925715277 | BMPR1A | c.497C= (p.Ala166=) | |
| 10 | g.86900093C>G | CA377450551 | BMPR1A | c.497C>G (p.Ala166Gly) | ClinVar dbSNP |
| 10 | g.86900093C>T | CA377450553 | BMPR1A | c.497C>T (p.Ala166Val) | |
| 10 | g.86900094T>A | CA470307134 | BMPR1A | c.498T>A (p.Ala166=) | |
| 10 | g.86900094T>C | CA470307135 | BMPR1A | c.498T>C (p.Ala166=) | gnomAD v4 |
| 10 | g.86900094T>G | CA470307137 | BMPR1A | c.498T>G (p.Ala166=) | |
| 10 | g.86900095A= | CA1925715284 | BMPR1A | c.499A= (p.Met167=) | |
| 10 | g.86900095A>C | CA377450557 | BMPR1A | c.499A>C (p.Met167Leu) | |
| 10 | g.86900095A>G | CA334421 | BMPR1A | c.499A>G (p.Met167Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.86900095A>T | CA197010 | BMPR1A | c.499A>T (p.Met167Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.86900096T>A | CA377450558 | BMPR1A | c.500T>A (p.Met167Lys) | |
| 10 | g.86900096T>C | CA377450559 | BMPR1A | c.500T>C (p.Met167Thr) | |
| 10 | g.86900096T>G | CA377450561 | BMPR1A | c.500T>G (p.Met167Arg) | |
| 10 | g.86900097G>A | CA377450564 | BMPR1A | c.501G>A (p.Met167Ile) | gnomAD v4 |
| 10 | g.86900097G>C | CA377450566 | BMPR1A | c.501G>C (p.Met167Ile) | ClinVar |
| 10 | g.86900097G>T | CA377450574 | BMPR1A | c.501G>T (p.Met167Ile) | |
| 10 | g.86900097_86900100delinsGATC | CA1925715294 | BMPR1A | c.501_504delinsGATC (p.Met167=) | |
| 10 | g.86900098A>C | CA377450576 | BMPR1A | c.502A>C (p.Ile168Leu) | |
| 10 | g.86900098A>G | CA377450578 | BMPR1A | c.502A>G (p.Ile168Val) | gnomAD v4 |
| 10 | g.86900098A>T | CA377450582 | BMPR1A | c.502A>T (p.Ile168Phe) | gnomAD v4 |
| 10 | g.86900101_86900103del | CA16043451 | BMPR1A | c.505_507del (p.Ile169del) | ClinVar dbSNP gnomAD v4 |
| 10 | g.86900098_86900104delinsATCATCT | CA1925715300 | BMPR1A | c.502_508delinsATCATCT (p.Ile168=) |