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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.95114737T>A | CA357738300 | BMPR1B | c.251T>A (p.Phe84Tyr) n.372T>A c.161T>A (p.Phe54Tyr) | |
| 4 | g.95114737T>C | CA357738301 | BMPR1B | c.251T>C (p.Phe84Ser) n.372T>C c.161T>C (p.Phe54Ser) | |
| 4 | g.95114737T>G | CA357738302 | BMPR1B | c.251T>G (p.Phe84Cys) n.372T>G c.161T>G (p.Phe54Cys) | |
| 4 | g.95114738C>A | CA357738303 | BMPR1B | c.252C>A (p.Phe84Leu) n.373C>A c.162C>A (p.Phe54Leu) | |
| 4 | g.95114738C>G | CA357738304 | BMPR1B | c.252C>G (p.Phe84Leu) n.373C>G c.162C>G (p.Phe54Leu) | |
| 4 | g.95114738C>T | CA440476770 | BMPR1B | c.252C>T (p.Phe84=) n.373C>T c.162C>T (p.Phe54=) | |
| 4 | g.95114739A>C | CA357738305 | BMPR1B | c.253A>C (p.Thr85Pro) n.374A>C c.163A>C (p.Thr55Pro) | |
| 4 | g.95114739A>G | CA357738306 | BMPR1B | c.253A>G (p.Thr85Ala) n.374A>G c.163A>G (p.Thr55Ala) | |
| 4 | g.95114739A>T | CA357738307 | BMPR1B | c.253A>T (p.Thr85Ser) n.374A>T c.163A>T (p.Thr55Ser) | |
| 4 | g.95114740C>A | CA357738308 | BMPR1B | c.254C>A (p.Thr85Lys) n.375C>A c.164C>A (p.Thr55Lys) | |
| 4 | g.95114740C= | CA1477952329 | BMPR1B | c.254C= (p.Thr85=) n.375C= c.164C= (p.Thr55=) | |
| 4 | g.95114740C>G | CA357738309 | BMPR1B | c.254C>G (p.Thr85Arg) n.375C>G c.164C>G (p.Thr55Arg) | |
| 4 | g.95114740C>T | CA102313611 | BMPR1B | c.254C>T (p.Thr85Met) n.375C>T c.164C>T (p.Thr55Met) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.95114741G>A | CA3014899 | BMPR1B | c.255G>A (p.Thr85=) n.376G>A c.165G>A (p.Thr55=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.95114741G>C | CA3014900 | BMPR1B | c.255G>C (p.Thr85=) n.376G>C c.165G>C (p.Thr55=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.95114741G= | CA1477952334 | BMPR1B | c.255G= (p.Thr85=) n.376G= c.165G= (p.Thr55=) | |
| 4 | g.95114741G>T | CA440476771 | BMPR1B | c.255G>T (p.Thr85=) n.376G>T c.165G>T (p.Thr55=) | |
| 4 | g.95114742A>C | CA357738310 | BMPR1B | c.256A>C (p.Met86Leu) n.377A>C c.166A>C (p.Met56Leu) | |
| 4 | g.95114742A>G | CA357738312 | BMPR1B | c.256A>G (p.Met86Val) n.377A>G c.166A>G (p.Met56Val) | |
| 4 | g.95114742A>T | CA357738311 | BMPR1B | c.256A>T (p.Met86Leu) n.377A>T c.166A>T (p.Met56Leu) | |
| 4 | g.95114743T>A | CA357738313 | BMPR1B | c.257T>A (p.Met86Lys) n.378T>A c.167T>A (p.Met56Lys) | |
| 4 | g.95114743T>C | CA357738314 | BMPR1B | c.257T>C (p.Met86Thr) n.378T>C c.167T>C (p.Met56Thr) | dbSNP |
| 4 | g.95114743T>G | CA357738315 | BMPR1B | c.257T>G (p.Met86Arg) n.378T>G c.167T>G (p.Met56Arg) | |
| 4 | g.95114743T= | CA1477952339 | BMPR1B | c.257T= (p.Met86=) n.378T= c.167T= (p.Met56=) | |
| 4 | g.95114744G>A | CA357738316 | BMPR1B | c.258G>A (p.Met86Ile) n.379G>A c.168G>A (p.Met56Ile) | |
| 4 | g.95114744G>C | CA357738317 | BMPR1B | c.258G>C (p.Met86Ile) n.379G>C c.168G>C (p.Met56Ile) | |
| 4 | g.95114744G>T | CA357738318 | BMPR1B | c.258G>T (p.Met86Ile) n.379G>T c.168G>T (p.Met56Ile) | |
| 4 | g.95114745A= | CA1477952344 | BMPR1B | c.259A= (p.Ile87=) n.380A= c.169A= (p.Ile57=) | |
| 4 | g.95114745A>C | CA357738319 | BMPR1B | c.259A>C (p.Ile87Leu) n.380A>C c.169A>C (p.Ile57Leu) | |
| 4 | g.95114745A>G | CA357738320 | BMPR1B | c.259A>G (p.Ile87Val) n.380A>G c.169A>G (p.Ile57Val) | dbSNP |
| 4 | g.95114745A>T | CA357738321 | BMPR1B | c.259A>T (p.Ile87Leu) n.380A>T c.169A>T (p.Ile57Leu) | |
| 4 | g.95114746T>A | CA357738322 | BMPR1B | c.260T>A (p.Ile87Lys) n.381T>A c.170T>A (p.Ile57Lys) | |
| 4 | g.95114746T>C | CA357738323 | BMPR1B | c.260T>C (p.Ile87Thr) n.381T>C c.170T>C (p.Ile57Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.95114746T>G | CA357738324 | BMPR1B | c.260T>G (p.Ile87Arg) n.381T>G c.170T>G (p.Ile57Arg) | |
| 4 | g.95114746T= | CA1477952347 | BMPR1B | c.260T= (p.Ile87=) n.381T= c.170T= (p.Ile57=) | |
| 4 | g.95114747A>C | CA440476772 | BMPR1B | c.261A>C (p.Ile87=) n.382A>C c.171A>C (p.Ile57=) | |
| 4 | g.95114747A>G | CA357738325 | BMPR1B | c.261A>G (p.Ile87Met) n.382A>G c.171A>G (p.Ile57Met) | |
| 4 | g.95114747A>T | CA440476773 | BMPR1B | c.261A>T (p.Ile87=) n.382A>T c.171A>T (p.Ile57=) | |
| 4 | g.95114748G>A | CA357738326 | BMPR1B | c.262G>A (p.Glu88Lys) n.383G>A c.172G>A (p.Glu58Lys) | |
| 4 | g.95114748G>C | CA357738327 | BMPR1B | c.262G>C (p.Glu88Gln) n.383G>C c.172G>C (p.Glu58Gln) | |
| 4 | g.95114748G>T | CA357738328 | BMPR1B | c.262G>T (p.Glu88Ter) n.383G>T c.172G>T (p.Glu58Ter) | COSMIC COSMIC COSMIC |
| 4 | g.95114749A>C | CA357738329 | BMPR1B | c.263A>C (p.Glu88Ala) n.384A>C c.173A>C (p.Glu58Ala) | |
| 4 | g.95114749A>G | CA357738330 | BMPR1B | c.263A>G (p.Glu88Gly) n.384A>G c.173A>G (p.Glu58Gly) | |
| 4 | g.95114749A>T | CA357738331 | BMPR1B | c.263A>T (p.Glu88Val) n.384A>T c.173A>T (p.Glu58Val) | |
| 4 | g.95114750A>C | CA357738332 | BMPR1B | c.264A>C (p.Glu88Asp) n.385A>C c.174A>C (p.Glu58Asp) | |
| 4 | g.95114750A>G | CA440476774 | BMPR1B | c.264A>G (p.Glu88=) n.385A>G c.174A>G (p.Glu58=) | |
| 4 | g.95114750A>T | CA357738333 | BMPR1B | c.264A>T (p.Glu88Asp) n.385A>T c.174A>T (p.Glu58Asp) | |
| 4 | g.95114751G>A | CA357738334 | BMPR1B | c.265G>A (p.Glu89Lys) n.386G>A c.175G>A (p.Glu59Lys) | |
| 4 | g.95114751G>C | CA357738335 | BMPR1B | c.265G>C (p.Glu89Gln) n.386G>C c.175G>C (p.Glu59Gln) | |
| 4 | g.95114751G>T | CA357738336 | BMPR1B | c.265G>T (p.Glu89Ter) n.386G>T c.175G>T (p.Glu59Ter) | |
| 4 | g.95114752A>C | CA357738337 | BMPR1B | c.266A>C (p.Glu89Ala) n.387A>C c.176A>C (p.Glu59Ala) | |
| 4 | g.95114752A>G | CA357738338 | BMPR1B | c.266A>G (p.Glu89Gly) n.387A>G c.176A>G (p.Glu59Gly) | |
| 4 | g.95114752A>T | CA357738339 | BMPR1B | c.266A>T (p.Glu89Val) n.387A>T c.176A>T (p.Glu59Val) | |
| 4 | g.95114753G>A | CA440476775 | BMPR1B | c.267G>A (p.Glu89=) n.388G>A c.177G>A (p.Glu59=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.95114753G>C | CA357738340 | BMPR1B | c.267G>C (p.Glu89Asp) n.388G>C c.177G>C (p.Glu59Asp) | |
| 4 | g.95114753G= | CA1477952349 | BMPR1B | c.267G= (p.Glu89=) n.388G= c.177G= (p.Glu59=) | |
| 4 | g.95114753G>T | CA357738341 | BMPR1B | c.267G>T (p.Glu89Asp) n.388G>T c.177G>T (p.Glu59Asp) | |
| 4 | g.95114754G>A | CA357738342 | BMPR1B | c.268G>A (p.Asp90Asn) n.389G>A c.178G>A (p.Asp60Asn) | |
| 4 | g.95114754G>C | CA357738343 | BMPR1B | c.268G>C (p.Asp90His) n.389G>C c.178G>C (p.Asp60His) | |
| 4 | g.95114754G>T | CA357738344 | BMPR1B | c.268G>T (p.Asp90Tyr) n.389G>T c.178G>T (p.Asp60Tyr) | |
| 4 | g.95114755A>C | CA357738345 | BMPR1B | c.269A>C (p.Asp90Ala) n.390A>C c.179A>C (p.Asp60Ala) | |
| 4 | g.95114755A>G | CA357738346 | BMPR1B | c.269A>G (p.Asp90Gly) n.390A>G c.179A>G (p.Asp60Gly) | |
| 4 | g.95114755A>T | CA357738347 | BMPR1B | c.269A>T (p.Asp90Val) n.390A>T c.179A>T (p.Asp60Val) | |
| 4 | g.95114756T>A | CA357738348 | BMPR1B | c.270T>A (p.Asp90Glu) n.391T>A c.180T>A (p.Asp60Glu) | |
| 4 | g.95114756T>C | CA440476776 | BMPR1B | c.270T>C (p.Asp90=) n.391T>C c.180T>C (p.Asp60=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 4 | g.95114756T>G | CA357738349 | BMPR1B | c.270T>G (p.Asp90Glu) n.391T>G c.180T>G (p.Asp60Glu) | |
| 4 | g.95114756T= | CA1477952351 | BMPR1B | c.270T= (p.Asp90=) n.391T= c.180T= (p.Asp60=) | |
| 4 | g.95114757G>A | CA357738350 | BMPR1B | c.271G>A (p.Asp91Asn) n.392G>A c.181G>A (p.Asp61Asn) | gnomAD v4 |
| 4 | g.95114757G>C | CA357738351 | BMPR1B | c.271G>C (p.Asp91His) n.392G>C c.181G>C (p.Asp61His) | |
| 4 | g.95114757G>T | CA357738352 | BMPR1B | c.271G>T (p.Asp91Tyr) n.392G>T c.181G>T (p.Asp61Tyr) | |
| 4 | g.95114758A= | CA1477952375 | BMPR1B | c.272A= (p.Asp91=) n.393A= c.182A= (p.Asp61=) | |
| 4 | g.95114758A>C | CA357738353 | BMPR1B | c.272A>C (p.Asp91Ala) n.393A>C c.182A>C (p.Asp61Ala) | ClinVar dbSNP |
| 4 | g.95114758A>G | CA357738354 | BMPR1B | c.272A>G (p.Asp91Gly) n.393A>G c.182A>G (p.Asp61Gly) | |
| 4 | g.95114758A>T | CA357738355 | BMPR1B | c.272A>T (p.Asp91Val) n.393A>T c.182A>T (p.Asp61Val) | |
| 4 | g.95114759C>A | CA357738357 | BMPR1B | c.273C>A (p.Asp91Glu) n.394C>A c.183C>A (p.Asp61Glu) | |
| 4 | g.95114759C= | CA1477952380 | BMPR1B | c.273C= (p.Asp91=) n.394C= c.183C= (p.Asp61=) | |
| 4 | g.95114759C>G | CA357738356 | BMPR1B | c.273C>G (p.Asp91Glu) n.394C>G c.183C>G (p.Asp61Glu) | |
| 4 | g.95114759C>T | CA102313612 | BMPR1B | c.273C>T (p.Asp91=) n.394C>T c.183C>T (p.Asp61=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.95114761_95114762del | CA2671461446 | BMPR1B | c.275_276del (p.Ser92TrpfsTer?) n.396_397del c.185_186del (p.Ser62TrpfsTer?) | gnomAD v4 |
| 4 | g.95114760T>A | CA357738358 | BMPR1B | c.274T>A (p.Ser92Thr) n.395T>A c.184T>A (p.Ser62Thr) | |
| 4 | g.95114760T>C | CA357738359 | BMPR1B | c.274T>C (p.Ser92Pro) n.395T>C c.184T>C (p.Ser62Pro) | |
| 4 | g.95114760T>G | CA357738360 | BMPR1B | c.274T>G (p.Ser92Ala) n.395T>G c.184T>G (p.Ser62Ala) | |
| 4 | g.95114761C>A | CA357738361 | BMPR1B | c.275C>A (p.Ser92Tyr) n.396C>A c.185C>A (p.Ser62Tyr) | |
| 4 | g.95114761C>G | CA357738362 | BMPR1B | c.275C>G (p.Ser92Cys) n.396C>G c.185C>G (p.Ser62Cys) | |
| 4 | g.95114761C>T | CA357738363 | BMPR1B | c.275C>T (p.Ser92Phe) n.396C>T c.185C>T (p.Ser62Phe) | gnomAD v4 |
| 4 | g.95114762T>A | CA440476777 | BMPR1B | c.276T>A (p.Ser92=) n.397T>A c.186T>A (p.Ser62=) | |
| 4 | g.95114762T>C | CA440476778 | BMPR1B | c.276T>C (p.Ser92=) n.397T>C c.186T>C (p.Ser62=) | dbSNP |
| 4 | g.95114762T>G | CA440476779 | BMPR1B | c.276T>G (p.Ser92=) n.397T>G c.186T>G (p.Ser62=) | |
| 4 | g.95114762T= | CA1477952385 | BMPR1B | c.276T= (p.Ser92=) n.397T= c.186T= (p.Ser62=) | |
| 4 | g.95114763G>A | CA357738366 | BMPR1B | c.277G>A (p.Gly93Arg) n.398G>A c.187G>A (p.Gly63Arg) | |
| 4 | g.95114763G>C | CA357738364 | BMPR1B | c.277G>C (p.Gly93Arg) n.398G>C c.187G>C (p.Gly63Arg) | |
| 4 | g.95114763G>T | CA357738365 | BMPR1B | c.277G>T (p.Gly93Trp) n.398G>T c.187G>T (p.Gly63Trp) | COSMIC |
| 4 | g.95114764G>A | CA357738367 | BMPR1B | c.278G>A (p.Gly93Glu) n.399G>A c.188G>A (p.Gly63Glu) | |
| 4 | g.95114764G>C | CA357738368 | BMPR1B | c.278G>C (p.Gly93Ala) n.399G>C c.188G>C (p.Gly63Ala) | |
| 4 | g.95114764G>T | CA357738369 | BMPR1B | c.278G>T (p.Gly93Val) n.399G>T c.188G>T (p.Gly63Val) | |
| 4 | g.95114765G>A | CA440476781 | BMPR1B | c.279G>A (p.Gly93=) n.400G>A c.189G>A (p.Gly63=) | gnomAD v4 |
| 4 | g.95114765G>C | CA440476782 | BMPR1B | c.279G>C (p.Gly93=) n.400G>C c.189G>C (p.Gly63=) | |
| 4 | g.95114765G>T | CA440476783 | BMPR1B | c.279G>T (p.Gly93=) n.400G>T c.189G>T (p.Gly63=) | |
| 4 | g.95114766T>A | CA357738370 | BMPR1B | c.280T>A (p.Leu94Met) n.401T>A c.190T>A (p.Leu64Met) | |
| 4 | g.95114766T>C | CA440476784 | BMPR1B | c.280T>C (p.Leu94=) n.401T>C c.190T>C (p.Leu64=) | |
| 4 | g.95114766T>G | CA357738371 | BMPR1B | c.280T>G (p.Leu94Val) n.401T>G c.190T>G (p.Leu64Val) | |
| 4 | g.95114767T>A | CA357738372 | BMPR1B | c.281T>A (p.Leu94Ter) n.402T>A c.191T>A (p.Leu64Ter) | |
| 4 | g.95114767T>C | CA357738374 | BMPR1B | c.281T>C (p.Leu94Ser) n.402T>C c.191T>C (p.Leu64Ser) | |
| 4 | g.95114767T>G | CA357738373 | BMPR1B | c.281T>G (p.Leu94Trp) n.402T>G c.191T>G (p.Leu64Trp) | |
| 4 | g.95114768G>A | CA440476785 | BMPR1B | c.282G>A (p.Leu94=) n.403G>A c.192G>A (p.Leu64=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.95114768G>C | CA357738375 | BMPR1B | c.282G>C (p.Leu94Phe) n.403G>C c.192G>C (p.Leu64Phe) | |
| 4 | g.95114768G= | CA1477952387 | BMPR1B | c.282G= (p.Leu94=) n.403G= c.192G= (p.Leu64=) | |
| 4 | g.95114768G>T | CA357738376 | BMPR1B | c.282G>T (p.Leu94Phe) n.403G>T c.192G>T (p.Leu64Phe) | |
| 4 | g.95114769C>A | CA357738377 | BMPR1B | c.283C>A (p.Pro95Thr) n.404C>A c.193C>A (p.Pro65Thr) | |
| 4 | g.95114769C>G | CA357738378 | BMPR1B | c.283C>G (p.Pro95Ala) n.404C>G c.193C>G (p.Pro65Ala) | |
| 4 | g.95114769C>T | CA357738379 | BMPR1B | c.283C>T (p.Pro95Ser) n.404C>T c.193C>T (p.Pro65Ser) | COSMIC COSMIC COSMIC |
| 4 | g.95114770C>A | CA357738380 | BMPR1B | c.284C>A (p.Pro95His) n.405C>A c.194C>A (p.Pro65His) | |
| 4 | g.95114770C>G | CA357738381 | BMPR1B | c.284C>G (p.Pro95Arg) n.405C>G c.194C>G (p.Pro65Arg) | |
| 4 | g.95114770C>T | CA357738382 | BMPR1B | c.284C>T (p.Pro95Leu) n.405C>T c.194C>T (p.Pro65Leu) | |
| 4 | g.95114771T>A | CA440476786 | BMPR1B | c.285T>A (p.Pro95=) n.406T>A c.195T>A (p.Pro65=) | |
| 4 | g.95114771T>C | CA440476789 | BMPR1B | c.285T>C (p.Pro95=) n.406T>C c.195T>C (p.Pro65=) | |
| 4 | g.95114771T>G | CA440476787 | BMPR1B | c.285T>G (p.Pro95=) n.406T>G c.195T>G (p.Pro65=) | gnomAD v4 |
| 4 | g.95114772G>A | CA357738383 | BMPR1B | c.286G>A (p.Val96Met) n.407G>A c.196G>A (p.Val66Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.95114772G>C | CA357738384 | BMPR1B | c.286G>C (p.Val96Leu) n.407G>C c.196G>C (p.Val66Leu) | |
| 4 | g.95114772G= | CA1477952391 | BMPR1B | c.286G= (p.Val96=) n.407G= c.196G= (p.Val66=) | |
| 4 | g.95114772G>T | CA357738385 | BMPR1B | c.286G>T (p.Val96Leu) n.407G>T c.196G>T (p.Val66Leu) | |
| 4 | g.95114773T>A | CA357738386 | BMPR1B | c.287T>A (p.Val96Glu) n.408T>A c.197T>A (p.Val66Glu) | |
| 4 | g.95114773T>C | CA357738387 | BMPR1B | c.287T>C (p.Val96Ala) n.408T>C c.197T>C (p.Val66Ala) | |
| 4 | g.95114773T>G | CA357738388 | BMPR1B | c.287T>G (p.Val96Gly) n.408T>G c.197T>G (p.Val66Gly) | |
| 4 | g.95114774G>A | CA3014901 | BMPR1B | c.288G>A (p.Val96=) n.409G>A c.198G>A (p.Val66=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.95114774G>C | CA440476790 | BMPR1B | c.288G>C (p.Val96=) n.409G>C c.198G>C (p.Val66=) | |
| 4 | g.95114774G= | CA1477952395 | BMPR1B | c.288G= (p.Val96=) n.409G= c.198G= (p.Val66=) | |
| 4 | g.95114774G>T | CA440476791 | BMPR1B | c.288G>T (p.Val96=) n.409G>T c.198G>T (p.Val66=) | |
| 4 | g.95114775G>A | CA357738389 | BMPR1B | c.289G>A (p.Val97Ile) n.410G>A c.199G>A (p.Val67Ile) | gnomAD v4 |
| 4 | g.95114775G>C | CA357738390 | BMPR1B | c.289G>C (p.Val97Leu) n.410G>C c.199G>C (p.Val67Leu) | |
| 4 | g.95114775G>T | CA357738391 | BMPR1B | c.289G>T (p.Val97Phe) n.410G>T c.199G>T (p.Val67Phe) | gnomAD v4 |
| 4 | g.95114776T>A | CA357738392 | BMPR1B | c.290T>A (p.Val97Asp) n.411T>A c.200T>A (p.Val67Asp) | |
| 4 | g.95114776T>C | CA357738393 | BMPR1B | c.290T>C (p.Val97Ala) n.411T>C c.200T>C (p.Val67Ala) | |
| 4 | g.95114776T>G | CA357738394 | BMPR1B | c.290T>G (p.Val97Gly) n.411T>G c.200T>G (p.Val67Gly) | |
| 4 | g.95114777C>A | CA440476792 | BMPR1B | c.291C>A (p.Val97=) n.412C>A c.201C>A (p.Val67=) | gnomAD v4 |
| 4 | g.95114777C>G | CA440476793 | BMPR1B | c.291C>G (p.Val97=) n.412C>G c.201C>G (p.Val67=) | |
| 4 | g.95114777C>T | CA440476794 | BMPR1B | c.291C>T (p.Val97=) n.412C>T c.201C>T (p.Val67=) | |
| 4 | g.95114778A>C | CA357738395 | BMPR1B | c.292A>C (p.Thr98Pro) n.413A>C c.202A>C (p.Thr68Pro) | |
| 4 | g.95114778A>G | CA357738396 | BMPR1B | c.292A>G (p.Thr98Ala) n.413A>G c.202A>G (p.Thr68Ala) | |
| 4 | g.95114778A>T | CA357738397 | BMPR1B | c.292A>T (p.Thr98Ser) n.413A>T c.202A>T (p.Thr68Ser) | |
| 4 | g.95114779C>A | CA357738398 | BMPR1B | c.293C>A (p.Thr98Asn) n.414C>A c.203C>A (p.Thr68Asn) | |
| 4 | g.95114779C>G | CA357738399 | BMPR1B | c.293C>G (p.Thr98Ser) n.414C>G c.203C>G (p.Thr68Ser) | |
| 4 | g.95114779C>T | CA357738400 | BMPR1B | c.293C>T (p.Thr98Ile) n.414C>T c.203C>T (p.Thr68Ile) | |
| 4 | g.95114780T>A | CA440476795 | BMPR1B | c.294T>A (p.Thr98=) n.415T>A c.204T>A (p.Thr68=) | |
| 4 | g.95114780T>C | CA440476796 | BMPR1B | c.294T>C (p.Thr98=) n.415T>C c.204T>C (p.Thr68=) | |
| 4 | g.95114780T>G | CA440476797 | BMPR1B | c.294T>G (p.Thr98=) n.415T>G c.204T>G (p.Thr68=) | |
| 4 | g.95114781T>A | CA357738403 | BMPR1B | c.295T>A (p.Ser99Thr) n.416T>A c.205T>A (p.Ser69Thr) | |
| 4 | g.95114781T>C | CA357738402 | BMPR1B | c.295T>C (p.Ser99Pro) n.416T>C c.205T>C (p.Ser69Pro) | |
| 4 | g.95114781T>G | CA357738401 | BMPR1B | c.295T>G (p.Ser99Ala) n.416T>G c.205T>G (p.Ser69Ala) | |
| 4 | g.95114782C>A | CA357738404 | BMPR1B | c.296C>A (p.Ser99Tyr) n.417C>A c.206C>A (p.Ser69Tyr) | |
| 4 | g.95114782C>G | CA357738406 | BMPR1B | c.296C>G (p.Ser99Cys) n.417C>G c.206C>G (p.Ser69Cys) | |
| 4 | g.95114782C>T | CA357738405 | BMPR1B | c.296C>T (p.Ser99Phe) n.417C>T c.206C>T (p.Ser69Phe) | |
| 4 | g.95114783T>A | CA440476799 | BMPR1B | c.297T>A (p.Ser99=) n.418T>A c.207T>A (p.Ser69=) | |
| 4 | g.95114783T>C | CA440476800 | BMPR1B | c.297T>C (p.Ser99=) n.418T>C c.207T>C (p.Ser69=) | gnomAD v4 |
| 4 | g.95114783T>G | CA440476801 | BMPR1B | c.297T>G (p.Ser99=) n.418T>G c.207T>G (p.Ser69=) | |
| 4 | g.95114784G>A | CA357738407 | BMPR1B | c.298G>A (p.Gly100Ser) n.419G>A c.208G>A (p.Gly70Ser) | |
| 4 | g.95114784G>C | CA357738409 | BMPR1B | c.298G>C (p.Gly100Arg) n.419G>C c.208G>C (p.Gly70Arg) | |
| 4 | g.95114784G>T | CA357738408 | BMPR1B | c.298G>T (p.Gly100Cys) n.419G>T c.208G>T (p.Gly70Cys) | |
| 4 | g.95114785G>A | CA357738410 | BMPR1B | c.299G>A (p.Gly100Asp) n.420G>A c.209G>A (p.Gly70Asp) | |
| 4 | g.95114785G>C | CA357738412 | BMPR1B | c.299G>C (p.Gly100Ala) n.420G>C c.209G>C (p.Gly70Ala) | |
| 4 | g.95114785G>T | CA357738411 | BMPR1B | c.299G>T (p.Gly100Val) n.420G>T c.209G>T (p.Gly70Val) | |
| 4 | g.95114786T>A | CA440476802 | BMPR1B | c.300T>A (p.Gly100=) n.421T>A c.210T>A (p.Gly70=) | dbSNP |
| 4 | g.95114786T>C | CA440476803 | BMPR1B | c.300T>C (p.Gly100=) n.421T>C c.210T>C (p.Gly70=) | |
| 4 | g.95114786T>G | CA440476804 | BMPR1B | c.300T>G (p.Gly100=) n.421T>G c.210T>G (p.Gly70=) | |
| 4 | g.95114787T>A | CA357738413 | BMPR1B | c.301T>A (p.Cys101Ser) n.422T>A c.211T>A (p.Cys71Ser) | |
| 4 | g.95114787T>C | CA357738414 | BMPR1B | c.301T>C (p.Cys101Arg) n.422T>C c.211T>C (p.Cys71Arg) | |
| 4 | g.95114787T>G | CA357738415 | BMPR1B | c.301T>G (p.Cys101Gly) n.422T>G c.211T>G (p.Cys71Gly) | |
| 4 | g.95114788G>A | CA357738416 | BMPR1B | c.302G>A (p.Cys101Tyr) n.423G>A c.212G>A (p.Cys71Tyr) | |
| 4 | g.95114788G>C | CA357738417 | BMPR1B | c.302G>C (p.Cys101Ser) n.423G>C c.212G>C (p.Cys71Ser) | |
| 4 | g.95114788G>T | CA357738418 | BMPR1B | c.302G>T (p.Cys101Phe) n.423G>T c.212G>T (p.Cys71Phe) | |
| 4 | g.95114789C>A | CA357738419 | BMPR1B | c.303C>A (p.Cys101Ter) n.424C>A c.213C>A (p.Cys71Ter) | |
| 4 | g.95114789C>G | CA357738420 | BMPR1B | c.303C>G (p.Cys101Trp) n.424C>G c.213C>G (p.Cys71Trp) | |
| 4 | g.95114789C>T | CA440476805 | BMPR1B | c.303C>T (p.Cys101=) n.424C>T c.213C>T (p.Cys71=) | |
| 4 | g.95114790C>A | CA357738421 | BMPR1B | c.304C>A (p.Leu102Ile) n.425C>A c.214C>A (p.Leu72Ile) | |
| 4 | g.95114790C= | CA1477952400 | BMPR1B | c.304C= (p.Leu102=) n.425C= c.214C= (p.Leu72=) | |
| 4 | g.95114790C>G | CA357738422 | BMPR1B | c.304C>G (p.Leu102Val) n.425C>G c.214C>G (p.Leu72Val) | |
| 4 | g.95114790C>T | CA102313613 | BMPR1B | c.304C>T (p.Leu102=) n.425C>T c.214C>T (p.Leu72=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.95114791T>A | CA357738425 | BMPR1B | c.305T>A (p.Leu102Gln) n.426T>A c.215T>A (p.Leu72Gln) | |
| 4 | g.95114791T>C | CA357738424 | BMPR1B | c.305T>C (p.Leu102Pro) n.426T>C c.215T>C (p.Leu72Pro) | |
| 4 | g.95114791T>G | CA357738423 | BMPR1B | c.305T>G (p.Leu102Arg) n.426T>G c.215T>G (p.Leu72Arg) | |
| 4 | g.95114792A>C | CA440476806 | BMPR1B | c.306A>C (p.Leu102=) n.427A>C c.216A>C (p.Leu72=) | |
| 4 | g.95114792A>G | CA440476807 | BMPR1B | c.306A>G (p.Leu102=) n.427A>G c.216A>G (p.Leu72=) | gnomAD v4 |
| 4 | g.95114792A>T | CA440476808 | BMPR1B | c.306A>T (p.Leu102=) n.427A>T c.216A>T (p.Leu72=) | |
| 4 | g.95114793G>A | CA357738426 | BMPR1B | c.307G>A (p.Gly103Arg) n.428G>A c.217G>A (p.Gly73Arg) | |
| 4 | g.95114793G>C | CA357738427 | BMPR1B | c.307G>C (p.Gly103Arg) n.428G>C c.217G>C (p.Gly73Arg) | |
| 4 | g.95114793G>T | CA357738428 | BMPR1B | c.307G>T (p.Gly103Ter) n.428G>T c.217G>T (p.Gly73Ter) | |
| 4 | g.95114794G>A | CA357738429 | BMPR1B | c.308G>A (p.Gly103Glu) n.429G>A c.218G>A (p.Gly73Glu) | |
| 4 | g.95114794G>C | CA357738430 | BMPR1B | c.308G>C (p.Gly103Ala) n.429G>C c.218G>C (p.Gly73Ala) | |
| 4 | g.95114794G>T | CA357738431 | BMPR1B | c.308G>T (p.Gly103Val) n.429G>T c.218G>T (p.Gly73Val) | |
| 4 | g.95114795A= | CA1477952404 | BMPR1B | c.309A= (p.Gly103=) n.430A= c.219A= (p.Gly73=) | |
| 4 | g.95114795A>C | CA440476809 | BMPR1B | c.309A>C (p.Gly103=) n.430A>C c.219A>C (p.Gly73=) | gnomAD v4 |
| 4 | g.95114795A>G | CA440476810 | BMPR1B | c.309A>G (p.Gly103=) n.430A>G c.219A>G (p.Gly73=) | dbSNP |
| 4 | g.95114795A>T | CA440476811 | BMPR1B | c.309A>T (p.Gly103=) n.430A>T c.219A>T (p.Gly73=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.95114796C>A | CA357738432 | BMPR1B | c.310C>A (p.Leu104Ile) n.431C>A c.220C>A (p.Leu74Ile) | |
| 4 | g.95114796C= | CA1477952407 | BMPR1B | c.310C= (p.Leu104=) n.431C= c.220C= (p.Leu74=) | |
| 4 | g.95114796C>G | CA357738433 | BMPR1B | c.310C>G (p.Leu104Val) n.431C>G c.220C>G (p.Leu74Val) | |
| 4 | g.95114796C>T | CA440476812 | BMPR1B | c.310C>T (p.Leu104=) n.431C>T c.220C>T (p.Leu74=) | dbSNP |
| 4 | g.95114797T>A | CA357738434 | BMPR1B | c.311T>A (p.Leu104Gln) n.432T>A c.221T>A (p.Leu74Gln) | |
| 4 | g.95114797T>C | CA357738435 | BMPR1B | c.311T>C (p.Leu104Pro) n.432T>C c.221T>C (p.Leu74Pro) | |
| 4 | g.95114797T>G | CA357738436 | BMPR1B | c.311T>G (p.Leu104Arg) n.432T>G c.221T>G (p.Leu74Arg) | |
| 4 | g.95114798A= | CA1477952410 | BMPR1B | c.312A= (p.Leu104=) n.433A= c.222A= (p.Leu74=) | |
| 4 | g.95114798A>C | CA440476813 | BMPR1B | c.312A>C (p.Leu104=) n.433A>C c.222A>C (p.Leu74=) | COSMIC COSMIC COSMIC |
| 4 | g.95114798A>G | CA440476814 | BMPR1B | c.312A>G (p.Leu104=) n.433A>G c.222A>G (p.Leu74=) | dbSNP gnomAD v4 |
| 4 | g.95114798A>T | CA440476815 | BMPR1B | c.312A>T (p.Leu104=) n.433A>T c.222A>T (p.Leu74=) | |
| 4 | g.95114799G>A | CA357738439 | BMPR1B | c.313G>A (p.Glu105Lys) n.434G>A c.223G>A (p.Glu75Lys) | |
| 4 | g.95114799G>C | CA357738438 | BMPR1B | c.313G>C (p.Glu105Gln) n.434G>C c.223G>C (p.Glu75Gln) | |
| 4 | g.95114799G>T | CA357738437 | BMPR1B | c.313G>T (p.Glu105Ter) n.434G>T c.223G>T (p.Glu75Ter) | |
| 4 | g.95114800A>C | CA357738440 | BMPR1B | c.314A>C (p.Glu105Ala) n.435A>C c.224A>C (p.Glu75Ala) | |
| 4 | g.95114800A>G | CA357738441 | BMPR1B | c.314A>G (p.Glu105Gly) n.435A>G c.224A>G (p.Glu75Gly) | |
| 4 | g.95114800A>T | CA357738442 | BMPR1B | c.314A>T (p.Glu105Val) n.435A>T c.224A>T (p.Glu75Val) | |
| 4 | g.95114801A= | CA1477952413 | BMPR1B | c.315A= (p.Glu105=) n.436A= c.225A= (p.Glu75=) | |
| 4 | g.95114801A>C | CA357738443 | BMPR1B | c.315A>C (p.Glu105Asp) n.436A>C c.225A>C (p.Glu75Asp) | |
| 4 | g.95114801A>G | CA3014902 | BMPR1B | c.315A>G (p.Glu105=) n.436A>G c.225A>G (p.Glu75=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.95114801A>T | CA357738444 | BMPR1B | c.315A>T (p.Glu105Asp) n.436A>T c.225A>T (p.Glu75Asp) | |
| 4 | g.95114802G>A | CA357738445 | BMPR1B | c.316G>A (p.Gly106Ser) n.437G>A c.226G>A (p.Gly76Ser) | |
| 4 | g.95114802G>C | CA357738446 | BMPR1B | c.316G>C (p.Gly106Arg) n.437G>C c.226G>C (p.Gly76Arg) | |
| 4 | g.95114802G>T | CA357738447 | BMPR1B | c.316G>T (p.Gly106Cys) n.437G>T c.226G>T (p.Gly76Cys) | |
| 4 | g.95114803G>A | CA357738448 | BMPR1B | c.317G>A (p.Gly106Asp) n.438G>A c.227G>A (p.Gly76Asp) | |
| 4 | g.95114803G>C | CA357738449 | BMPR1B | c.317G>C (p.Gly106Ala) n.438G>C c.227G>C (p.Gly76Ala) | |
| 4 | g.95114803G>T | CA357738450 | BMPR1B | c.317G>T (p.Gly106Val) n.438G>T c.227G>T (p.Gly76Val) | |
| 4 | g.95114804C>A | CA440476818 | BMPR1B | c.318C>A (p.Gly106=) n.439C>A c.228C>A (p.Gly76=) | |
| 4 | g.95114804C>G | CA440476817 | BMPR1B | c.318C>G (p.Gly106=) n.439C>G c.228C>G (p.Gly76=) | |
| 4 | g.95114804C>T | CA440476816 | BMPR1B | c.318C>T (p.Gly106=) n.439C>T c.228C>T (p.Gly76=) | |
| 4 | g.95114805T>A | CA357738452 | BMPR1B | c.319T>A (p.Ser107Thr) n.440T>A c.229T>A (p.Ser77Thr) | |
| 4 | g.95114805T>C | CA357738451 | BMPR1B | c.319T>C (p.Ser107Pro) n.440T>C c.229T>C (p.Ser77Pro) | |
| 4 | g.95114805T>G | CA3014903 | BMPR1B | c.319T>G (p.Ser107Ala) n.440T>G c.229T>G (p.Ser77Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.95114805T= | CA1477952415 | BMPR1B | c.319T= (p.Ser107=) n.440T= c.229T= (p.Ser77=) | |
| 4 | g.95114806del | CA2578148072 | BMPR1B | c.320del (p.Ser107Ter) n.441del c.230del (p.Ser77Ter) | |
| 4 | g.95114806C>A | CA357738453 | BMPR1B | c.320C>A (p.Ser107Ter) n.441C>A c.230C>A (p.Ser77Ter) | |
| 4 | g.95114806C>G | CA357738454 | BMPR1B | c.320C>G (p.Ser107Ter) n.441C>G c.230C>G (p.Ser77Ter) | |
| 4 | g.95114806C>T | CA357738455 | BMPR1B | c.320C>T (p.Ser107Leu) n.441C>T c.230C>T (p.Ser77Leu) | |
| 4 | g.95114807A= | CA1477952419 | BMPR1B | c.321A= (p.Ser107=) n.442A= c.231A= (p.Ser77=) | |
| 4 | g.95114807A>C | CA440476821 | BMPR1B | c.321A>C (p.Ser107=) n.442A>C c.231A>C (p.Ser77=) | |
| 4 | g.95114807A>G | CA440476819 | BMPR1B | c.321A>G (p.Ser107=) n.442A>G c.231A>G (p.Ser77=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.95114807A>T | CA440476820 | BMPR1B | c.321A>T (p.Ser107=) n.442A>T c.231A>T (p.Ser77=) | |
| 4 | g.95114808G>A | CA357738456 | BMPR1B | c.322G>A (p.Asp108Asn) n.443G>A c.232G>A (p.Asp78Asn) | |
| 4 | g.95114808G>C | CA357738457 | BMPR1B | c.322G>C (p.Asp108His) n.443G>C c.232G>C (p.Asp78His) | |
| 4 | g.95114808G>T | CA357738458 | BMPR1B | c.322G>T (p.Asp108Tyr) n.443G>T c.232G>T (p.Asp78Tyr) | |
| 4 | g.95114809A= | CA1477952425 | BMPR1B | c.323A= (p.Asp108=) n.444A= c.233A= (p.Asp78=) | |
| 4 | g.95114809A>C | CA357738459 | BMPR1B | c.323A>C (p.Asp108Ala) n.444A>C c.233A>C (p.Asp78Ala) | |
| 4 | g.95114809A>G | CA357738460 | BMPR1B | c.323A>G (p.Asp108Gly) n.444A>G c.233A>G (p.Asp78Gly) | ClinVar dbSNP |
| 4 | g.95114809A>T | CA357738461 | BMPR1B | c.323A>T (p.Asp108Val) n.444A>T c.233A>T (p.Asp78Val) | |
| 4 | g.95114810T>A | CA357738462 | BMPR1B | c.324T>A (p.Asp108Glu) n.445T>A c.234T>A (p.Asp78Glu) | |
| 4 | g.95114810T>C | CA440476822 | BMPR1B | c.324T>C (p.Asp108=) n.445T>C c.234T>C (p.Asp78=) | |
| 4 | g.95114810T>G | CA357738463 | BMPR1B | c.324T>G (p.Asp108Glu) n.445T>G c.234T>G (p.Asp78Glu) | |
| 4 | g.95114811T>A | CA357738466 | BMPR1B | c.325T>A (p.Phe109Ile) n.446T>A c.235T>A (p.Phe79Ile) | |
| 4 | g.95114811T>C | CA357738465 | BMPR1B | c.325T>C (p.Phe109Leu) n.446T>C c.235T>C (p.Phe79Leu) | |
| 4 | g.95114811T>G | CA357738464 | BMPR1B | c.325T>G (p.Phe109Val) n.446T>G c.235T>G (p.Phe79Val) | |
| 4 | g.95114812T>A | CA357738467 | BMPR1B | c.326T>A (p.Phe109Tyr) n.447T>A c.236T>A (p.Phe79Tyr) | |
| 4 | g.95114812T>C | CA357738468 | BMPR1B | c.326T>C (p.Phe109Ser) n.447T>C c.236T>C (p.Phe79Ser) | |
| 4 | g.95114812T>G | CA357738469 | BMPR1B | c.326T>G (p.Phe109Cys) n.447T>G c.236T>G (p.Phe79Cys) | |
| 4 | g.95114813T>A | CA357738470 | BMPR1B | c.327T>A (p.Phe109Leu) n.448T>A c.237T>A (p.Phe79Leu) | |
| 4 | g.95114813T>C | CA440476823 | BMPR1B | c.327T>C (p.Phe109=) n.448T>C c.237T>C (p.Phe79=) | |
| 4 | g.95114813T>G | CA357738471 | BMPR1B | c.327T>G (p.Phe109Leu) n.448T>G c.237T>G (p.Phe79Leu) | |
| 4 | g.95114814C>A | CA357738474 | BMPR1B | c.328C>A (p.Gln110Lys) n.449C>A c.238C>A (p.Gln80Lys) | |
| 4 | g.95114814C>G | CA357738473 | BMPR1B | c.328C>G (p.Gln110Glu) n.449C>G c.238C>G (p.Gln80Glu) | |
| 4 | g.95114814C>T | CA357738472 | BMPR1B | c.328C>T (p.Gln110Ter) n.449C>T c.238C>T (p.Gln80Ter) | |
| 4 | g.95114815A>C | CA357738475 | BMPR1B | c.329A>C (p.Gln110Pro) n.450A>C c.239A>C (p.Gln80Pro) | |
| 4 | g.95114815A>G | CA357738476 | BMPR1B | c.329A>G (p.Gln110Arg) n.450A>G c.239A>G (p.Gln80Arg) | |
| 4 | g.95114815A>T | CA357738477 | BMPR1B | c.329A>T (p.Gln110Leu) n.450A>T c.239A>T (p.Gln80Leu) | |
| 4 | g.95114816G>A | CA3014904 | BMPR1B | c.330G>A (p.Gln110=) n.451G>A c.240G>A (p.Gln80=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.95114816G>C | CA357738478 | BMPR1B | c.330G>C (p.Gln110His) n.451G>C c.240G>C (p.Gln80His) | |
| 4 | g.95114816G= | CA1477952431 | BMPR1B | c.330G= (p.Gln110=) n.451G= c.240G= (p.Gln80=) | |
| 4 | g.95114816G>T | CA357738479 | BMPR1B | c.330G>T (p.Gln110His) n.451G>T c.240G>T (p.Gln80His) | |
| 4 | g.95114817T>A | CA357738482 | BMPR1B | c.331T>A (p.Cys111Ser) n.452T>A c.241T>A (p.Cys81Ser) | |
| 4 | g.95114817T>C | CA357738480 | BMPR1B | c.331T>C (p.Cys111Arg) n.452T>C c.241T>C (p.Cys81Arg) | |
| 4 | g.95114817T>G | CA357738481 | BMPR1B | c.331T>G (p.Cys111Gly) n.452T>G c.241T>G (p.Cys81Gly) | |
| 4 | g.95114818G>A | CA357738483 | BMPR1B | c.332G>A (p.Cys111Tyr) n.453G>A c.242G>A (p.Cys81Tyr) | |
| 4 | g.95114818G>C | CA357738484 | BMPR1B | c.332G>C (p.Cys111Ser) n.453G>C c.242G>C (p.Cys81Ser) | |
| 4 | g.95114818G>T | CA357738485 | BMPR1B | c.332G>T (p.Cys111Phe) n.453G>T c.242G>T (p.Cys81Phe) | COSMIC COSMIC |
| 4 | g.95114819T>A | CA357738486 | BMPR1B | c.333T>A (p.Cys111Ter) n.454T>A c.243T>A (p.Cys81Ter) | |
| 4 | g.95114819T>C | CA440476824 | BMPR1B | c.333T>C (p.Cys111=) n.454T>C c.243T>C (p.Cys81=) | COSMIC |
| 4 | g.95114819T>G | CA357738487 | BMPR1B | c.333T>G (p.Cys111Trp) n.454T>G c.243T>G (p.Cys81Trp) | |
| 4 | g.95114820C>A | CA440476825 | BMPR1B | c.334C>A (p.Arg112=) n.455C>A c.244C>A (p.Arg82=) | |
| 4 | g.95114820C>G | CA357738488 | BMPR1B | c.334C>G (p.Arg112Gly) n.455C>G c.244C>G (p.Arg82Gly) | |
| 4 | g.95114820C>T | CA357738489 | BMPR1B | c.334C>T (p.Arg112Trp) n.455C>T c.244C>T (p.Arg82Trp) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 4 | g.95114821G>A | CA357738490 | BMPR1B | c.335G>A (p.Arg112Gln) n.456G>A c.245G>A (p.Arg82Gln) | ClinVar gnomAD v4 |
| 4 | g.95114821G>C | CA357738491 | BMPR1B | c.335G>C (p.Arg112Pro) n.456G>C c.245G>C (p.Arg82Pro) | COSMIC COSMIC COSMIC |
| 4 | g.95114821G>T | CA357738492 | BMPR1B | c.335G>T (p.Arg112Leu) n.456G>T c.245G>T (p.Arg82Leu) | dbSNP |
| 4 | g.95114822G>A | CA440476827 | BMPR1B | c.336G>A (p.Arg112=) n.457G>A c.246G>A (p.Arg82=) | |
| 4 | g.95114822G>C | CA440476828 | BMPR1B | c.336G>C (p.Arg112=) n.457G>C c.246G>C (p.Arg82=) | |
| 4 | g.95114822G>T | CA440476826 | BMPR1B | c.336G>T (p.Arg112=) n.457G>T c.246G>T (p.Arg82=) | |
| 4 | g.95114823G>A | CA357738493 | BMPR1B | c.336+1G>A (n.336+1G>A) n.458G>A c.246+1G>A (n.246+1G>A) c.247G>A (p.Val83Ile) | |
| 4 | g.95114823G>C | CA357738494 | BMPR1B | c.336+1G>C (n.336+1G>C) n.458G>C c.246+1G>C (n.246+1G>C) c.247G>C (p.Val83Leu) | |
| 4 | g.95114823G>T | CA357738495 | BMPR1B | c.336+1G>T (n.336+1G>T) n.458G>T c.246+1G>T (n.246+1G>T) c.247G>T (p.Val83Leu) | COSMIC COSMIC COSMIC |
| 4 | g.95114824T>A | CA357738496 | BMPR1B | c.336+2T>A (n.336+2T>A) n.459T>A c.246+2T>A (n.246+2T>A) c.248T>A (p.Val83Glu) | |
| 4 | g.95114824T>C | CA357738498 | BMPR1B | c.336+2T>C (n.336+2T>C) n.459T>C c.246+2T>C (n.246+2T>C) c.248T>C (p.Val83Ala) | COSMIC COSMIC |
| 4 | g.95114824T>G | CA357738497 | BMPR1B | c.336+2T>G (n.336+2T>G) n.459T>G c.246+2T>G (n.246+2T>G) c.248T>G (p.Val83Gly) | dbSNP |
| 4 | g.95114824T= | CA1477950302 | BMPR1B | c.336+2T= (n.336+2T=) n.459T= c.246+2T= (n.246+2T=) c.248T= (p.Val83=) | |
| 4 | g.95114825A>G | CA2578148073 | BMPR1B | c.336+3A>G (n.336+3A>G) n.460A>G c.246+3A>G (n.246+3A>G) c.249A>G (p.Val83=) | |
| 4 | g.95114826A>G | CA357738499 | BMPR1B | c.336+4A>G (n.336+4A>G) n.461A>G c.246+4A>G (n.246+4A>G) c.250A>G (p.Arg84Gly) | |
| 4 | g.95114826A>T | CA357738500 | BMPR1B | c.336+4A>T (n.336+4A>T) n.461A>T c.246+4A>T (n.246+4A>T) c.250A>T (p.Arg84Trp) | |
| 4 | g.95114827G>A | CA357738501 | BMPR1B | c.336+5G>A (n.336+5G>A) n.462G>A c.246+5G>A (n.246+5G>A) c.251G>A (p.Arg84Lys) | |
| 4 | g.95114827G>C | CA357738502 | BMPR1B | c.336+5G>C (n.336+5G>C) n.462G>C c.246+5G>C (n.246+5G>C) c.251G>C (p.Arg84Thr) | dbSNP gnomAD v2 |
| 4 | g.95114827G= | CA1477950304 | BMPR1B | c.336+5G= (n.336+5G=) n.462G= c.246+5G= (n.246+5G=) c.251G= (p.Arg84=) | |
| 4 | g.95114827G>T | CA357738503 | BMPR1B | c.336+5G>T (n.336+5G>T) n.462G>T c.246+5G>T (n.246+5G>T) c.251G>T (p.Arg84Met) | |
| 4 | g.95114828G>A | CA357738504 | BMPR1B | c.336+6G>A (n.336+6G>A) n.462+1G>A c.246+6G>A (n.246+6G>A) c.251+1G>A (n.251+1G>A) | |
| 4 | g.95114828G>C | CA357738505 | BMPR1B | c.336+6G>C (n.336+6G>C) n.462+1G>C c.246+6G>C (n.246+6G>C) c.251+1G>C (n.251+1G>C) | |
| 4 | g.95114828G>T | CA357738506 | BMPR1B | c.336+6G>T (n.336+6G>T) n.462+1G>T c.246+6G>T (n.246+6G>T) c.251+1G>T (n.251+1G>T) | |
| 4 | g.95114829T>A | CA357738507 | BMPR1B | c.336+7T>A (n.336+7T>A) n.462+2T>A c.246+7T>A (n.246+7T>A) c.251+2T>A (n.251+2T>A) | |
| 4 | g.95114829T>C | CA357738508 | BMPR1B | c.336+7T>C (n.336+7T>C) n.462+2T>C c.246+7T>C (n.246+7T>C) c.251+2T>C (n.251+2T>C) | dbSNP |
| 4 | g.95114829T>G | CA357738509 | BMPR1B | c.336+7T>G (n.336+7T>G) n.462+2T>G c.246+7T>G (n.246+7T>G) c.251+2T>G (n.251+2T>G) | dbSNP |
| 4 | g.95114829T= | CA1477950305 | BMPR1B | c.336+7T= (n.336+7T=) n.462+2T= c.246+7T= (n.246+7T=) c.251+2T= (n.251+2T=) | |
| 4 | g.95114830A= | CA1477950306 | BMPR1B | c.336+8A= (n.336+8A=) n.462+3A= c.246+8A= (n.246+8A=) c.251+3A= (n.251+3A=) | |
| 4 | g.95114830A>G | CA553466157 | BMPR1B | c.336+8A>G (n.336+8A>G) n.462+3A>G c.246+8A>G (n.246+8A>G) c.251+3A>G (n.251+3A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.95114832A>T | CA2740091311 | BMPR1B | c.336+10A>T (n.336+10A>T) n.462+5A>T c.246+10A>T (n.246+10A>T) c.251+5A>T (n.251+5A>T) | ClinVar |
| 4 | g.95114835A>C | CA2671461447 | BMPR1B | c.336+13A>C (n.336+13A>C) n.462+8A>C c.246+13A>C (n.246+13A>C) c.251+8A>C (n.251+8A>C) | gnomAD v4 |
| 4 | g.95114836C>G | CA2561724695 | BMPR1B | c.336+14C>G (n.336+14C>G) n.462+9C>G c.246+14C>G (n.246+14C>G) c.251+9C>G (n.251+9C>G) | |
| 4 | g.95114837T>C | CA2671461448 | BMPR1B | c.336+15T>C (n.336+15T>C) n.462+10T>C c.246+15T>C (n.246+15T>C) c.251+10T>C (n.251+10T>C) | gnomAD v4 |