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 |
|---|---|---|---|---|---|
| 4 | g.78865613A= | CA1470731210 | BMP2K | c.1124A= (p.Lys375=) c.*100A= (n.*100A=) c.201A= n.406A= c.884A= (p.Lys295=) c.236A= (p.Lys79=) | |
| 4 | g.78865613A>C | CA357378518 | BMP2K | c.1124A>C (p.Lys375Thr) c.*100A>C (n.*100A>C) c.201A>C n.406A>C c.884A>C (p.Lys295Thr) c.236A>C (p.Lys79Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.78865613A>G | CA357378519 | BMP2K | c.1124A>G (p.Lys375Arg) c.*100A>G (n.*100A>G) c.201A>G n.406A>G c.884A>G (p.Lys295Arg) c.236A>G (p.Lys79Arg) | |
| 4 | g.78865613A>T | CA357378520 | BMP2K | c.1124A>T (p.Lys375Met) c.*100A>T (n.*100A>T) c.201A>T n.406A>T c.884A>T (p.Lys295Met) c.236A>T (p.Lys79Met) | |
| 4 | g.78865614G>A | CA439976471 | BMP2K | c.1125G>A (p.Lys375=) c.*101G>A (n.*101G>A) c.202G>A n.407G>A c.885G>A (p.Lys295=) c.237G>A (p.Lys79=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.78865614G>C | CA357378521 | BMP2K | c.1125G>C (p.Lys375Asn) c.*101G>C (n.*101G>C) c.202G>C n.407G>C c.885G>C (p.Lys295Asn) c.237G>C (p.Lys79Asn) | |
| 4 | g.78865614G= | CA1470731216 | BMP2K | c.1125G= (p.Lys375=) c.*101G= (n.*101G=) c.202G= n.407G= c.885G= (p.Lys295=) c.237G= (p.Lys79=) | |
| 4 | g.78865614G>T | CA357378522 | BMP2K | c.1125G>T (p.Lys375Asn) c.*101G>T (n.*101G>T) c.202G>T n.407G>T c.885G>T (p.Lys295Asn) c.237G>T (p.Lys79Asn) | |
| 4 | g.78865615G>A | CA357378523 | BMP2K | c.1126G>A (p.Ala376Thr) c.*102G>A (n.*102G>A) c.203G>A n.408G>A c.886G>A (p.Ala296Thr) c.238G>A (p.Ala80Thr) | |
| 4 | g.78865615G>C | CA357378525 | BMP2K | c.1126G>C (p.Ala376Pro) c.*102G>C (n.*102G>C) c.203G>C n.408G>C c.886G>C (p.Ala296Pro) c.238G>C (p.Ala80Pro) | |
| 4 | g.78865615G>T | CA357378524 | BMP2K | c.1126G>T (p.Ala376Ser) c.*102G>T (n.*102G>T) c.203G>T n.408G>T c.886G>T (p.Ala296Ser) c.238G>T (p.Ala80Ser) | |
| 4 | g.78865616C>A | CA2980199 | BMP2K | c.1127C>A (p.Ala376Asp) c.*103C>A (n.*103C>A) c.204C>A n.409C>A c.887C>A (p.Ala296Asp) c.239C>A (p.Ala80Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.78865616C= | CA1470731222 | BMP2K | c.1127C= (p.Ala376=) c.*103C= (n.*103C=) c.204C= n.409C= c.887C= (p.Ala296=) c.239C= (p.Ala80=) | |
| 4 | g.78865616C>G | CA99975151 | BMP2K | c.1127C>G (p.Ala376Gly) c.*103C>G (n.*103C>G) c.204C>G n.409C>G c.887C>G (p.Ala296Gly) c.239C>G (p.Ala80Gly) | dbSNP gnomAD v4 |
| 4 | g.78865616C>T | CA357378526 | BMP2K | c.1127C>T (p.Ala376Val) c.*103C>T (n.*103C>T) c.204C>T n.409C>T c.887C>T (p.Ala296Val) c.239C>T (p.Ala80Val) | |
| 4 | g.78865617C>A | CA439976478 | BMP2K | c.1128C>A (p.Ala376=) c.*104C>A (n.*104C>A) c.205C>A n.410C>A c.888C>A (p.Ala296=) c.240C>A (p.Ala80=) | |
| 4 | g.78865617C= | CA1470731223 | BMP2K | c.1128C= (p.Ala376=) c.*104C= (n.*104C=) c.205C= n.410C= c.888C= (p.Ala296=) c.240C= (p.Ala80=) | |
| 4 | g.78865617C>G | CA439976480 | BMP2K | c.1128C>G (p.Ala376=) c.*104C>G (n.*104C>G) c.205C>G n.410C>G c.888C>G (p.Ala296=) c.240C>G (p.Ala80=) | dbSNP gnomAD v2 |
| 4 | g.78865617C>T | CA439976482 | BMP2K | c.1128C>T (p.Ala376=) c.*104C>T (n.*104C>T) c.205C>T n.410C>T c.888C>T (p.Ala296=) c.240C>T (p.Ala80=) | |
| 4 | g.78865618A= | CA1470731225 | BMP2K | c.1129A= (p.Asn377=) c.*105A= (n.*105A=) c.206A= n.411A= c.889A= (p.Asn297=) c.241A= (p.Asn81=) | |
| 4 | g.78865618A>C | CA357378527 | BMP2K | c.1129A>C (p.Asn377His) c.*105A>C (n.*105A>C) c.206A>C n.411A>C c.889A>C (p.Asn297His) c.241A>C (p.Asn81His) | dbSNP |
| 4 | g.78865618A>G | CA357378528 | BMP2K | c.1129A>G (p.Asn377Asp) c.*105A>G (n.*105A>G) c.206A>G n.411A>G c.889A>G (p.Asn297Asp) c.241A>G (p.Asn81Asp) | gnomAD v4 |
| 4 | g.78865618A>T | CA357378529 | BMP2K | c.1129A>T (p.Asn377Tyr) c.*105A>T (n.*105A>T) c.206A>T n.411A>T c.889A>T (p.Asn297Tyr) c.241A>T (p.Asn81Tyr) | |
| 4 | g.78865619A= | CA1470731228 | BMP2K | c.1130A= (p.Asn377=) c.*106A= (n.*106A=) c.207A= n.412A= c.890A= (p.Asn297=) c.242A= (p.Asn81=) | |
| 4 | g.78865619A>C | CA357378530 | BMP2K | c.1130A>C (p.Asn377Thr) c.*106A>C (n.*106A>C) c.207A>C n.412A>C c.890A>C (p.Asn297Thr) c.242A>C (p.Asn81Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.78865619A>G | CA2980200 | BMP2K | c.1130A>G (p.Asn377Ser) c.*106A>G (n.*106A>G) c.207A>G n.412A>G c.890A>G (p.Asn297Ser) c.242A>G (p.Asn81Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.78865619A>T | CA357378531 | BMP2K | c.1130A>T (p.Asn377Ile) c.*106A>T (n.*106A>T) c.207A>T n.412A>T c.890A>T (p.Asn297Ile) c.242A>T (p.Asn81Ile) | |
| 4 | g.78865620C>A | CA357378532 | BMP2K | c.1131C>A (p.Asn377Lys) c.*107C>A (n.*107C>A) c.208C>A n.413C>A c.891C>A (p.Asn297Lys) c.243C>A (p.Asn81Lys) | |
| 4 | g.78865620C= | CA1470731232 | BMP2K | c.1131C= (p.Asn377=) c.*107C= (n.*107C=) c.208C= n.413C= c.891C= (p.Asn297=) c.243C= (p.Asn81=) | |
| 4 | g.78865620C>G | CA357378533 | BMP2K | c.1131C>G (p.Asn377Lys) c.*107C>G (n.*107C>G) c.208C>G n.413C>G c.891C>G (p.Asn297Lys) c.243C>G (p.Asn81Lys) | |
| 4 | g.78865620C>T | CA2980201 | BMP2K | c.1131C>T (p.Asn377=) c.*107C>T (n.*107C>T) c.208C>T n.413C>T c.891C>T (p.Asn297=) c.243C>T (p.Asn81=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.78865621T>A | CA357378534 | BMP2K | c.1132T>A (p.Ser378Thr) c.*108T>A (n.*108T>A) c.209T>A n.414T>A c.892T>A (p.Ser298Thr) c.244T>A (p.Ser82Thr) | |
| 4 | g.78865621T>C | CA357378536 | BMP2K | c.1132T>C (p.Ser378Pro) c.*108T>C (n.*108T>C) c.209T>C n.414T>C c.892T>C (p.Ser298Pro) c.244T>C (p.Ser82Pro) | |
| 4 | g.78865621T>G | CA357378535 | BMP2K | c.1132T>G (p.Ser378Ala) c.*108T>G (n.*108T>G) c.209T>G n.414T>G c.892T>G (p.Ser298Ala) c.244T>G (p.Ser82Ala) | |
| 4 | g.78865622C>A | CA357378537 | BMP2K | c.1133C>A (p.Ser378Tyr) c.*109C>A (n.*109C>A) c.210C>A n.415C>A c.893C>A (p.Ser298Tyr) c.245C>A (p.Ser82Tyr) | |
| 4 | g.78865622C>G | CA357378538 | BMP2K | c.1133C>G (p.Ser378Cys) c.*109C>G (n.*109C>G) c.210C>G n.415C>G c.893C>G (p.Ser298Cys) c.245C>G (p.Ser82Cys) | |
| 4 | g.78865622C>T | CA357378539 | BMP2K | c.1133C>T (p.Ser378Phe) c.*109C>T (n.*109C>T) c.210C>T n.415C>T c.893C>T (p.Ser298Phe) c.245C>T (p.Ser82Phe) | |
| 4 | g.78865623T>A | CA439976488 | BMP2K | c.1134T>A (p.Ser378=) c.*110T>A (n.*110T>A) c.211T>A n.416T>A c.894T>A (p.Ser298=) c.246T>A (p.Ser82=) | |
| 4 | g.78865623T>C | CA439976489 | BMP2K | c.1134T>C (p.Ser378=) c.*110T>C (n.*110T>C) c.211T>C n.416T>C c.894T>C (p.Ser298=) c.246T>C (p.Ser82=) | |
| 4 | g.78865623T>G | CA439976491 | BMP2K | c.1134T>G (p.Ser378=) c.*110T>G (n.*110T>G) c.211T>G n.416T>G c.894T>G (p.Ser298=) c.246T>G (p.Ser82=) | |
| 4 | g.78865624G>A | CA357378540 | BMP2K | c.1135G>A (p.Ala379Thr) c.*111G>A (n.*111G>A) c.212G>A n.417G>A c.895G>A (p.Ala299Thr) c.247G>A (p.Ala83Thr) | |
| 4 | g.78865624G>C | CA357378541 | BMP2K | c.1135G>C (p.Ala379Pro) c.*111G>C (n.*111G>C) c.212G>C n.417G>C c.895G>C (p.Ala299Pro) c.247G>C (p.Ala83Pro) | dbSNP gnomAD v4 |
| 4 | g.78865624G= | CA1470731236 | BMP2K | c.1135G= (p.Ala379=) c.*111G= (n.*111G=) c.212G= n.417G= c.895G= (p.Ala299=) c.247G= (p.Ala83=) | |
| 4 | g.78865624G>T | CA357378542 | BMP2K | c.1135G>T (p.Ala379Ser) c.*111G>T (n.*111G>T) c.212G>T n.417G>T c.895G>T (p.Ala299Ser) c.247G>T (p.Ala83Ser) | |
| 4 | g.78865625C>A | CA357378543 | BMP2K | c.1136C>A (p.Ala379Asp) c.*112C>A (n.*112C>A) c.213C>A n.418C>A c.896C>A (p.Ala299Asp) c.248C>A (p.Ala83Asp) | |
| 4 | g.78865625C= | CA1470731248 | BMP2K | c.1136C= (p.Ala379=) c.*112C= (n.*112C=) c.213C= n.418C= c.896C= (p.Ala299=) c.248C= (p.Ala83=) | |
| 4 | g.78865625C>G | CA357378544 | BMP2K | c.1136C>G (p.Ala379Gly) c.*112C>G (n.*112C>G) c.213C>G n.418C>G c.896C>G (p.Ala299Gly) c.248C>G (p.Ala83Gly) | |
| 4 | g.78865625C>T | CA357378545 | BMP2K | c.1136C>T (p.Ala379Val) c.*112C>T (n.*112C>T) c.213C>T n.418C>T c.896C>T (p.Ala299Val) c.248C>T (p.Ala83Val) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.78865626T>A | CA439976493 | BMP2K | c.1137T>A (p.Ala379=) c.*113T>A (n.*113T>A) c.214T>A n.419T>A c.897T>A (p.Ala299=) c.249T>A (p.Ala83=) | |
| 4 | g.78865626T>C | CA439976494 | BMP2K | c.1137T>C (p.Ala379=) c.*113T>C (n.*113T>C) c.214T>C n.419T>C c.897T>C (p.Ala299=) c.249T>C (p.Ala83=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.78865626T>G | CA439976497 | BMP2K | c.1137T>G (p.Ala379=) c.*113T>G (n.*113T>G) c.214T>G n.419T>G c.897T>G (p.Ala299=) c.249T>G (p.Ala83=) | |
| 4 | g.78865626T= | CA1470731252 | BMP2K | c.1137T= (p.Ala379=) c.*113T= (n.*113T=) c.214T= n.419T= c.897T= (p.Ala299=) c.249T= (p.Ala83=) | |
| 4 | g.78865627A= | CA1470731255 | BMP2K | c.1138A= (p.Thr380=) c.*114A= (n.*114A=) c.215A= n.420A= c.898A= (p.Thr300=) c.250A= (p.Thr84=) | |
| 4 | g.78865627A>C | CA357378546 | BMP2K | c.1138A>C (p.Thr380Pro) c.*114A>C (n.*114A>C) c.215A>C n.420A>C c.898A>C (p.Thr300Pro) c.250A>C (p.Thr84Pro) | |
| 4 | g.78865627A>G | CA2980202 | BMP2K | c.1138A>G (p.Thr380Ala) c.*114A>G (n.*114A>G) c.215A>G n.420A>G c.898A>G (p.Thr300Ala) c.250A>G (p.Thr84Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.78865627A>T | CA357378547 | BMP2K | c.1138A>T (p.Thr380Ser) c.*114A>T (n.*114A>T) c.215A>T n.420A>T c.898A>T (p.Thr300Ser) c.250A>T (p.Thr84Ser) | |
| 4 | g.78865628C>A | CA357378549 | BMP2K | c.1139C>A (p.Thr380Asn) c.*115C>A (n.*115C>A) c.216C>A n.421C>A c.899C>A (p.Thr300Asn) c.251C>A (p.Thr84Asn) | |
| 4 | g.78865628C>G | CA357378550 | BMP2K | c.1139C>G (p.Thr380Ser) c.*115C>G (n.*115C>G) c.216C>G n.421C>G c.899C>G (p.Thr300Ser) c.251C>G (p.Thr84Ser) | |
| 4 | g.78865628C>T | CA357378548 | BMP2K | c.1139C>T (p.Thr380Ile) c.*115C>T (n.*115C>T) c.216C>T n.421C>T c.899C>T (p.Thr300Ile) c.251C>T (p.Thr84Ile) | gnomAD v4 |
| 4 | g.78865629T>A | CA439976504 | BMP2K | c.1140T>A (p.Thr380=) c.*116T>A (n.*116T>A) c.217T>A n.422T>A c.900T>A (p.Thr300=) c.252T>A (p.Thr84=) | |
| 4 | g.78865629T>C | CA439976506 | BMP2K | c.1140T>C (p.Thr380=) c.*116T>C (n.*116T>C) c.217T>C n.422T>C c.900T>C (p.Thr300=) c.252T>C (p.Thr84=) | COSMIC COSMIC |
| 4 | g.78865629T>G | CA439976502 | BMP2K | c.1140T>G (p.Thr380=) c.*116T>G (n.*116T>G) c.217T>G n.422T>G c.900T>G (p.Thr300=) c.252T>G (p.Thr84=) | |
| 4 | g.78865630A= | CA1470731261 | BMP2K | c.1141A= (p.Thr381=) c.*117A= (n.*117A=) c.218A= n.423A= c.901A= (p.Thr301=) c.253A= (p.Thr85=) | |
| 4 | g.78865630A>C | CA357378551 | BMP2K | c.1141A>C (p.Thr381Pro) c.*117A>C (n.*117A>C) c.218A>C n.423A>C c.901A>C (p.Thr301Pro) c.253A>C (p.Thr85Pro) | dbSNP |
| 4 | g.78865630A>G | CA357378552 | BMP2K | c.1141A>G (p.Thr381Ala) c.*117A>G (n.*117A>G) c.218A>G n.423A>G c.901A>G (p.Thr301Ala) c.253A>G (p.Thr85Ala) | gnomAD v4 |
| 4 | g.78865630A>T | CA357378553 | BMP2K | c.1141A>T (p.Thr381Ser) c.*117A>T (n.*117A>T) c.218A>T n.423A>T c.901A>T (p.Thr301Ser) c.253A>T (p.Thr85Ser) | gnomAD v4 |
| 4 | g.78865631C>A | CA357378554 | BMP2K | c.1142C>A (p.Thr381Asn) c.*118C>A (n.*118C>A) c.219C>A n.424C>A c.902C>A (p.Thr301Asn) c.254C>A (p.Thr85Asn) | |
| 4 | g.78865631C>G | CA357378555 | BMP2K | c.1142C>G (p.Thr381Ser) c.*118C>G (n.*118C>G) c.219C>G n.424C>G c.902C>G (p.Thr301Ser) c.254C>G (p.Thr85Ser) | COSMIC COSMIC |
| 4 | g.78865631C>T | CA357378556 | BMP2K | c.1142C>T (p.Thr381Ile) c.*118C>T (n.*118C>T) c.219C>T n.424C>T c.902C>T (p.Thr301Ile) c.254C>T (p.Thr85Ile) | |
| 4 | g.78865632T>A | CA439976511 | BMP2K | c.1143T>A (p.Thr381=) c.*119T>A (n.*119T>A) c.220T>A n.425T>A c.903T>A (p.Thr301=) c.255T>A (p.Thr85=) | |
| 4 | g.78865632T>C | CA439976512 | BMP2K | c.1143T>C (p.Thr381=) c.*119T>C (n.*119T>C) c.220T>C n.425T>C c.903T>C (p.Thr301=) c.255T>C (p.Thr85=) | |
| 4 | g.78865632T>G | CA2980203 | BMP2K | c.1143T>G (p.Thr381=) c.*119T>G (n.*119T>G) c.220T>G n.425T>G c.903T>G (p.Thr301=) c.255T>G (p.Thr85=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.78865632T= | CA1470731265 | BMP2K | c.1143T= (p.Thr381=) c.*119T= (n.*119T=) c.220T= n.425T= c.903T= (p.Thr301=) c.255T= (p.Thr85=) | |
| 4 | g.78865633G>A | CA357378557 | BMP2K | c.1144G>A (p.Ala382Thr) c.*120G>A (n.*120G>A) c.221G>A n.426G>A c.904G>A (p.Ala302Thr) c.256G>A (p.Ala86Thr) | |
| 4 | g.78865633G>C | CA357378558 | BMP2K | c.1144G>C (p.Ala382Pro) c.*120G>C (n.*120G>C) c.221G>C n.426G>C c.904G>C (p.Ala302Pro) c.256G>C (p.Ala86Pro) | |
| 4 | g.78865633G>T | CA357378559 | BMP2K | c.1144G>T (p.Ala382Ser) c.*120G>T (n.*120G>T) c.221G>T n.426G>T c.904G>T (p.Ala302Ser) c.256G>T (p.Ala86Ser) | |
| 4 | g.78865634C>A | CA357378560 | BMP2K | c.1145C>A (p.Ala382Asp) c.*121C>A (n.*121C>A) c.222C>A n.427C>A c.905C>A (p.Ala302Asp) c.257C>A (p.Ala86Asp) | |
| 4 | g.78865634C>G | CA357378561 | BMP2K | c.1145C>G (p.Ala382Gly) c.*121C>G (n.*121C>G) c.222C>G n.427C>G c.905C>G (p.Ala302Gly) c.257C>G (p.Ala86Gly) | |
| 4 | g.78865634C>T | CA357378562 | BMP2K | c.1145C>T (p.Ala382Val) c.*121C>T (n.*121C>T) c.222C>T n.427C>T c.905C>T (p.Ala302Val) c.257C>T (p.Ala86Val) | |
| 4 | g.78865635C>A | CA439976520 | BMP2K | c.1146C>A (p.Ala382=) c.*122C>A (n.*122C>A) c.223C>A n.428C>A c.906C>A (p.Ala302=) c.258C>A (p.Ala86=) | |
| 4 | g.78865635C>G | CA439976521 | BMP2K | c.1146C>G (p.Ala382=) c.*122C>G (n.*122C>G) c.223C>G n.428C>G c.906C>G (p.Ala302=) c.258C>G (p.Ala86=) | |
| 4 | g.78865635C>T | CA439976522 | BMP2K | c.1146C>T (p.Ala382=) c.*122C>T (n.*122C>T) c.223C>T n.428C>T c.906C>T (p.Ala302=) c.258C>T (p.Ala86=) | |
| 4 | g.78865636A= | CA1470731271 | BMP2K | c.1147A= (p.Thr383=) c.*123A= (n.*123A=) c.224A= n.429A= c.907A= (p.Thr303=) c.259A= (p.Thr87=) | |
| 4 | g.78865636A>C | CA357378565 | BMP2K | c.1147A>C (p.Thr383Pro) c.*123A>C (n.*123A>C) c.224A>C n.429A>C c.907A>C (p.Thr303Pro) c.259A>C (p.Thr87Pro) | |
| 4 | g.78865636A>G | CA357378563 | BMP2K | c.1147A>G (p.Thr383Ala) c.*123A>G (n.*123A>G) c.224A>G n.429A>G c.907A>G (p.Thr303Ala) c.259A>G (p.Thr87Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.78865636A>T | CA357378564 | BMP2K | c.1147A>T (p.Thr383Ser) c.*123A>T (n.*123A>T) c.224A>T n.429A>T c.907A>T (p.Thr303Ser) c.259A>T (p.Thr87Ser) | |
| 4 | g.78865637C>A | CA357378566 | BMP2K | c.1148C>A (p.Thr383Asn) c.*124C>A (n.*124C>A) c.225C>A n.430C>A c.908C>A (p.Thr303Asn) c.260C>A (p.Thr87Asn) | |
| 4 | g.78865637C>G | CA357378568 | BMP2K | c.1148C>G (p.Thr383Ser) c.*124C>G (n.*124C>G) c.225C>G n.430C>G c.908C>G (p.Thr303Ser) c.260C>G (p.Thr87Ser) | |
| 4 | g.78865637C>T | CA357378567 | BMP2K | c.1148C>T (p.Thr383Ile) c.*124C>T (n.*124C>T) c.225C>T n.430C>T c.908C>T (p.Thr303Ile) c.260C>T (p.Thr87Ile) | COSMIC |
| 4 | g.78865638T>A | CA439976525 | BMP2K | c.1149T>A (p.Thr383=) c.*125T>A (n.*125T>A) c.226T>A n.431T>A c.909T>A (p.Thr303=) c.261T>A (p.Thr87=) | |
| 4 | g.78865638T>C | CA439976528 | BMP2K | c.1149T>C (p.Thr383=) c.*125T>C (n.*125T>C) c.226T>C n.431T>C c.909T>C (p.Thr303=) c.261T>C (p.Thr87=) | |
| 4 | g.78865638T>G | CA439976530 | BMP2K | c.1149T>G (p.Thr383=) c.*125T>G (n.*125T>G) c.226T>G n.431T>G c.909T>G (p.Thr303=) c.261T>G (p.Thr87=) | |
| 4 | g.78865639C>A | CA357378569 | BMP2K | c.1150C>A (p.Pro384Thr) c.*126C>A (n.*126C>A) c.227C>A n.432C>A c.910C>A (p.Pro304Thr) c.262C>A (p.Pro88Thr) | gnomAD v4 |
| 4 | g.78865639C>G | CA357378570 | BMP2K | c.1150C>G (p.Pro384Ala) c.*126C>G (n.*126C>G) c.227C>G n.432C>G c.910C>G (p.Pro304Ala) c.262C>G (p.Pro88Ala) | |
| 4 | g.78865639C>T | CA357378571 | BMP2K | c.1150C>T (p.Pro384Ser) c.*126C>T (n.*126C>T) c.227C>T n.432C>T c.910C>T (p.Pro304Ser) c.262C>T (p.Pro88Ser) | COSMIC COSMIC |
| 4 | g.78865640C>A | CA357378572 | BMP2K | c.1151C>A (p.Pro384His) c.*127C>A (n.*127C>A) c.228C>A n.433C>A c.911C>A (p.Pro304His) c.263C>A (p.Pro88His) | dbSNP COSMIC COSMIC |
| 4 | g.78865640C= | CA1470731273 | BMP2K | c.1151C= (p.Pro384=) c.*127C= (n.*127C=) c.228C= n.433C= c.911C= (p.Pro304=) c.263C= (p.Pro88=) | |
| 4 | g.78865640C>G | CA357378573 | BMP2K | c.1151C>G (p.Pro384Arg) c.*127C>G (n.*127C>G) c.228C>G n.433C>G c.911C>G (p.Pro304Arg) c.263C>G (p.Pro88Arg) | gnomAD v4 |
| 4 | g.78865640C>T | CA357378574 | BMP2K | c.1151C>T (p.Pro384Leu) c.*127C>T (n.*127C>T) c.228C>T n.433C>T c.911C>T (p.Pro304Leu) c.263C>T (p.Pro88Leu) | |
| 4 | g.78865641C>A | CA439976535 | BMP2K | c.1152C>A (p.Pro384=) c.*128C>A (n.*128C>A) c.229C>A n.434C>A c.912C>A (p.Pro304=) c.264C>A (p.Pro88=) | COSMIC COSMIC |
| 4 | g.78865641C>G | CA439976537 | BMP2K | c.1152C>G (p.Pro384=) c.*128C>G (n.*128C>G) c.229C>G n.434C>G c.912C>G (p.Pro304=) c.264C>G (p.Pro88=) | |
| 4 | g.78865641C>T | CA439976536 | BMP2K | c.1152C>T (p.Pro384=) c.*128C>T (n.*128C>T) c.229C>T n.434C>T c.912C>T (p.Pro304=) c.264C>T (p.Pro88=) | |
| 4 | g.78865642A>C | CA357378575 | BMP2K | c.1153A>C (p.Ser385Arg) c.*129A>C (n.*129A>C) c.230A>C n.435A>C c.913A>C (p.Ser305Arg) c.265A>C (p.Ser89Arg) | |
| 4 | g.78865642A>G | CA357378576 | BMP2K | c.1153A>G (p.Ser385Gly) c.*129A>G (n.*129A>G) c.230A>G n.435A>G c.913A>G (p.Ser305Gly) c.265A>G (p.Ser89Gly) | |
| 4 | g.78865642A>T | CA357378577 | BMP2K | c.1153A>T (p.Ser385Cys) c.*129A>T (n.*129A>T) c.230A>T n.435A>T c.913A>T (p.Ser305Cys) c.265A>T (p.Ser89Cys) | |
| 4 | g.78865643G>A | CA357378578 | BMP2K | c.1154G>A (p.Ser385Asn) c.*130G>A (n.*130G>A) c.231G>A n.436G>A c.914G>A (p.Ser305Asn) c.266G>A (p.Ser89Asn) | gnomAD v4 |
| 4 | g.78865643G>C | CA357378579 | BMP2K | c.1154G>C (p.Ser385Thr) c.*130G>C (n.*130G>C) c.231G>C n.436G>C c.914G>C (p.Ser305Thr) c.266G>C (p.Ser89Thr) | |
| 4 | g.78865643G>T | CA357378580 | BMP2K | c.1154G>T (p.Ser385Ile) c.*130G>T (n.*130G>T) c.231G>T n.436G>T c.914G>T (p.Ser305Ile) c.266G>T (p.Ser89Ile) | |
| 4 | g.78865644T>A | CA357378581 | BMP2K | c.1155T>A (p.Ser385Arg) c.*131T>A (n.*131T>A) c.232T>A n.437T>A c.915T>A (p.Ser305Arg) c.267T>A (p.Ser89Arg) | |
| 4 | g.78865644T>C | CA439976546 | BMP2K | c.1155T>C (p.Ser385=) c.*131T>C (n.*131T>C) c.232T>C n.437T>C c.915T>C (p.Ser305=) c.267T>C (p.Ser89=) | |
| 4 | g.78865644T>G | CA99975168 | BMP2K | c.1155T>G (p.Ser385Arg) c.*131T>G (n.*131T>G) c.232T>G n.437T>G c.915T>G (p.Ser305Arg) c.267T>G (p.Ser89Arg) | dbSNP gnomAD v4 |
| 4 | g.78865644T= | CA1470731278 | BMP2K | c.1155T= (p.Ser385=) c.*131T= (n.*131T=) c.232T= n.437T= c.915T= (p.Ser305=) c.267T= (p.Ser89=) | |
| 4 | g.78865645G>A | CA357378582 | BMP2K | c.1156G>A (p.Val386Met) c.*132G>A (n.*132G>A) c.233G>A n.438G>A c.916G>A (p.Val306Met) c.268G>A (p.Val90Met) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.78865645G>C | CA357378583 | BMP2K | c.1156G>C (p.Val386Leu) c.*132G>C (n.*132G>C) c.233G>C n.438G>C c.916G>C (p.Val306Leu) c.268G>C (p.Val90Leu) | |
| 4 | g.78865645G= | CA1470731283 | BMP2K | c.1156G= (p.Val386=) c.*132G= (n.*132G=) c.233G= n.438G= c.916G= (p.Val306=) c.268G= (p.Val90=) | |
| 4 | g.78865645G>T | CA357378584 | BMP2K | c.1156G>T (p.Val386Leu) c.*132G>T (n.*132G>T) c.233G>T n.438G>T c.916G>T (p.Val306Leu) c.268G>T (p.Val90Leu) | gnomAD v4 |
| 4 | g.78865646T>A | CA357378585 | BMP2K | c.1157T>A (p.Val386Glu) c.*133T>A (n.*133T>A) c.234T>A n.439T>A c.917T>A (p.Val306Glu) c.269T>A (p.Val90Glu) | |
| 4 | g.78865646T>C | CA357378586 | BMP2K | c.1157T>C (p.Val386Ala) c.*133T>C (n.*133T>C) c.234T>C n.439T>C c.917T>C (p.Val306Ala) c.269T>C (p.Val90Ala) | |
| 4 | g.78865646T>G | CA357378587 | BMP2K | c.1157T>G (p.Val386Gly) c.*133T>G (n.*133T>G) c.234T>G n.439T>G c.917T>G (p.Val306Gly) c.269T>G (p.Val90Gly) | |
| 4 | g.78865647G>A | CA439976554 | BMP2K | c.1158G>A (p.Val386=) c.*134G>A (n.*134G>A) c.235G>A n.440G>A c.918G>A (p.Val306=) c.270G>A (p.Val90=) | gnomAD v4 |
| 4 | g.78865647G>C | CA439976555 | BMP2K | c.1158G>C (p.Val386=) c.*134G>C (n.*134G>C) c.235G>C n.440G>C c.918G>C (p.Val306=) c.270G>C (p.Val90=) | |
| 4 | g.78865647G>T | CA439976558 | BMP2K | c.1158G>T (p.Val386=) c.*134G>T (n.*134G>T) c.235G>T n.440G>T c.918G>T (p.Val306=) c.270G>T (p.Val90=) | gnomAD v4 |
| 4 | g.78865648C>A | CA357378588 | BMP2K | c.1159C>A (p.Leu387Met) c.*135C>A (n.*135C>A) c.236C>A n.441C>A c.919C>A (p.Leu307Met) c.271C>A (p.Leu91Met) | |
| 4 | g.78865648C>G | CA357378589 | BMP2K | c.1159C>G (p.Leu387Val) c.*135C>G (n.*135C>G) c.236C>G n.441C>G c.919C>G (p.Leu307Val) c.271C>G (p.Leu91Val) | |
| 4 | g.78865648C>T | CA439976559 | BMP2K | c.1159C>T (p.Leu387=) c.*135C>T (n.*135C>T) c.236C>T n.441C>T c.919C>T (p.Leu307=) c.271C>T (p.Leu91=) | |
| 4 | g.78865649T>A | CA357378590 | BMP2K | c.1160T>A (p.Leu387Gln) c.*136T>A (n.*136T>A) c.237T>A n.442T>A c.920T>A (p.Leu307Gln) c.272T>A (p.Leu91Gln) | |
| 4 | g.78865649T>C | CA2980204 | BMP2K | c.1160T>C (p.Leu387Pro) c.*136T>C (n.*136T>C) c.237T>C n.442T>C c.920T>C (p.Leu307Pro) c.272T>C (p.Leu91Pro) | dbSNP ExAC |
| 4 | g.78865649T>G | CA357378591 | BMP2K | c.1160T>G (p.Leu387Arg) c.*136T>G (n.*136T>G) c.237T>G n.442T>G c.920T>G (p.Leu307Arg) c.272T>G (p.Leu91Arg) | ClinVar dbSNP gnomAD v4 |
| 4 | g.78865649T= | CA1470731289 | BMP2K | c.1160T= (p.Leu387=) c.*136T= (n.*136T=) c.237T= n.442T= c.920T= (p.Leu307=) c.272T= (p.Leu91=) | |
| 4 | g.78865650G>A | CA2980205 | BMP2K | c.1161G>A (p.Leu387=) c.*137G>A (n.*137G>A) c.238G>A n.443G>A c.921G>A (p.Leu307=) c.273G>A (p.Leu91=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.78865650G>C | CA439976569 | BMP2K | c.1161G>C (p.Leu387=) c.*137G>C (n.*137G>C) c.238G>C n.443G>C c.921G>C (p.Leu307=) c.273G>C (p.Leu91=) | |
| 4 | g.78865650G= | CA1470731294 | BMP2K | c.1161G= (p.Leu387=) c.*137G= (n.*137G=) c.238G= n.443G= c.921G= (p.Leu307=) c.273G= (p.Leu91=) | |
| 4 | g.78865650G>T | CA439976567 | BMP2K | c.1161G>T (p.Leu387=) c.*137G>T (n.*137G>T) c.238G>T n.443G>T c.921G>T (p.Leu307=) c.273G>T (p.Leu91=) | gnomAD v4 |
| 4 | g.78865651A= | CA1470731300 | BMP2K | c.1162A= (p.Thr388=) c.*138A= (n.*138A=) c.239A= n.444A= c.922A= (p.Thr308=) c.274A= (p.Thr92=) | |
| 4 | g.78865651A>C | CA2980206 | BMP2K | c.1162A>C (p.Thr388Pro) c.*138A>C (n.*138A>C) c.239A>C n.444A>C c.922A>C (p.Thr308Pro) c.274A>C (p.Thr92Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.78865651A>G | CA357378593 | BMP2K | c.1162A>G (p.Thr388Ala) c.*138A>G (n.*138A>G) c.239A>G n.444A>G c.922A>G (p.Thr308Ala) c.274A>G (p.Thr92Ala) | |
| 4 | g.78865651A>T | CA357378592 | BMP2K | c.1162A>T (p.Thr388Ser) c.*138A>T (n.*138A>T) c.239A>T n.444A>T c.922A>T (p.Thr308Ser) c.274A>T (p.Thr92Ser) | |
| 4 | g.78865652C>A | CA357378596 | BMP2K | c.1163C>A (p.Thr388Asn) c.*139C>A (n.*139C>A) c.240C>A n.445C>A c.923C>A (p.Thr308Asn) c.275C>A (p.Thr92Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.78865652C= | CA1470731303 | BMP2K | c.1163C= (p.Thr388=) c.*139C= (n.*139C=) c.240C= n.445C= c.923C= (p.Thr308=) c.275C= (p.Thr92=) | |
| 4 | g.78865652C>G | CA357378594 | BMP2K | c.1163C>G (p.Thr388Ser) c.*139C>G (n.*139C>G) c.240C>G n.445C>G c.923C>G (p.Thr308Ser) c.275C>G (p.Thr92Ser) | |
| 4 | g.78865652C>T | CA357378595 | BMP2K | c.1163C>T (p.Thr388Ile) c.*139C>T (n.*139C>T) c.240C>T n.445C>T c.923C>T (p.Thr308Ile) c.275C>T (p.Thr92Ile) | |
| 4 | g.78865653C>A | CA439976575 | BMP2K | c.1164C>A (p.Thr388=) c.*140C>A (n.*140C>A) c.241C>A n.446C>A c.924C>A (p.Thr308=) c.276C>A (p.Thr92=) | gnomAD v4 |
| 4 | g.78865653C>G | CA439976577 | BMP2K | c.1164C>G (p.Thr388=) c.*140C>G (n.*140C>G) c.241C>G n.446C>G c.924C>G (p.Thr308=) c.276C>G (p.Thr92=) | |
| 4 | g.78865653C>T | CA439976580 | BMP2K | c.1164C>T (p.Thr388=) c.*140C>T (n.*140C>T) c.241C>T n.446C>T c.924C>T (p.Thr308=) c.276C>T (p.Thr92=) | |
| 4 | g.78865654A= | CA1470731304 | BMP2K | c.1165A= (p.Ile389=) c.*141A= (n.*141A=) c.242A= n.447A= c.925A= (p.Ile309=) c.277A= (p.Ile93=) | |
| 4 | g.78865654A>C | CA2980207 | BMP2K | c.1165A>C (p.Ile389Leu) c.*141A>C (n.*141A>C) c.242A>C n.447A>C c.925A>C (p.Ile309Leu) c.277A>C (p.Ile93Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.78865654A>G | CA2980208 | BMP2K | c.1165A>G (p.Ile389Val) c.*141A>G (n.*141A>G) c.242A>G n.447A>G c.925A>G (p.Ile309Val) c.277A>G (p.Ile93Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.78865654A>T | CA357378597 | BMP2K | c.1165A>T (p.Ile389Phe) c.*141A>T (n.*141A>T) c.242A>T n.447A>T c.925A>T (p.Ile309Phe) c.277A>T (p.Ile93Phe) | |
| 4 | g.78865655T>A | CA357378598 | BMP2K | c.1166T>A (p.Ile389Asn) c.*142T>A (n.*142T>A) c.243T>A n.448T>A c.926T>A (p.Ile309Asn) c.278T>A (p.Ile93Asn) | gnomAD v4 |
| 4 | g.78865655T>C | CA357378599 | BMP2K | c.1166T>C (p.Ile389Thr) c.*142T>C (n.*142T>C) c.243T>C n.448T>C c.926T>C (p.Ile309Thr) c.278T>C (p.Ile93Thr) | |
| 4 | g.78865655T>G | CA357378600 | BMP2K | c.1166T>G (p.Ile389Ser) c.*142T>G (n.*142T>G) c.243T>G n.448T>G c.926T>G (p.Ile309Ser) c.278T>G (p.Ile93Ser) | |
| 4 | g.78865656T>A | CA439976591 | BMP2K | c.1167T>A (p.Ile389=) c.*143T>A (n.*143T>A) c.244T>A n.449T>A c.927T>A (p.Ile309=) c.279T>A (p.Ile93=) | gnomAD v4 |
| 4 | g.78865656T>C | CA439976592 | BMP2K | c.1167T>C (p.Ile389=) c.*143T>C (n.*143T>C) c.244T>C n.449T>C c.927T>C (p.Ile309=) c.279T>C (p.Ile93=) | |
| 4 | g.78865656T>G | CA357378601 | BMP2K | c.1167T>G (p.Ile389Met) c.*143T>G (n.*143T>G) c.244T>G n.449T>G c.927T>G (p.Ile309Met) c.279T>G (p.Ile93Met) | |
| 4 | g.78865657C>A | CA357378602 | BMP2K | c.1168C>A (p.Gln390Lys) c.*144C>A (n.*144C>A) c.245C>A n.450C>A c.928C>A (p.Gln310Lys) c.280C>A (p.Gln94Lys) | |
| 4 | g.78865657C>G | CA357378603 | BMP2K | c.1168C>G (p.Gln390Glu) c.*144C>G (n.*144C>G) c.245C>G n.450C>G c.928C>G (p.Gln310Glu) c.280C>G (p.Gln94Glu) | |
| 4 | g.78865657C>T | CA357378604 | BMP2K | c.1168C>T (p.Gln390Ter) c.*144C>T (n.*144C>T) c.245C>T n.450C>T c.928C>T (p.Gln310Ter) c.280C>T (p.Gln94Ter) | |
| 4 | g.78865658A>C | CA357378607 | BMP2K | c.1169A>C (p.Gln390Pro) c.*145A>C (n.*145A>C) c.246A>C n.451A>C c.929A>C (p.Gln310Pro) c.281A>C (p.Gln94Pro) | |
| 4 | g.78865658A>G | CA357378606 | BMP2K | c.1169A>G (p.Gln390Arg) c.*145A>G (n.*145A>G) c.246A>G n.451A>G c.929A>G (p.Gln310Arg) c.281A>G (p.Gln94Arg) | |
| 4 | g.78865658A>T | CA357378605 | BMP2K | c.1169A>T (p.Gln390Leu) c.*145A>T (n.*145A>T) c.246A>T n.451A>T c.929A>T (p.Gln310Leu) c.281A>T (p.Gln94Leu) | |
| 4 | g.78865659A= | CA1470731307 | BMP2K | c.1170A= (p.Gln390=) c.*146A= (n.*146A=) c.247A= n.452A= c.930A= (p.Gln310=) c.282A= (p.Gln94=) | |
| 4 | g.78865659A>C | CA357378608 | BMP2K | c.1170A>C (p.Gln390His) c.*146A>C (n.*146A>C) c.247A>C n.452A>C c.930A>C (p.Gln310His) c.282A>C (p.Gln94His) | |
| 4 | g.78865659A>G | CA99975183 | BMP2K | c.1170A>G (p.Gln390=) c.*146A>G (n.*146A>G) c.247A>G n.452A>G c.930A>G (p.Gln310=) c.282A>G (p.Gln94=) | dbSNP gnomAD v4 |
| 4 | g.78865659A>T | CA357378609 | BMP2K | c.1170A>T (p.Gln390His) c.*146A>T (n.*146A>T) c.247A>T n.452A>T c.930A>T (p.Gln310His) c.282A>T (p.Gln94His) | |
| 4 | g.78865660A>C | CA357378610 | BMP2K | c.1171A>C (p.Ser391Arg) c.*147A>C (n.*147A>C) c.248A>C n.453A>C c.931A>C (p.Ser311Arg) c.283A>C (p.Ser95Arg) | |
| 4 | g.78865660A>G | CA357378611 | BMP2K | c.1171A>G (p.Ser391Gly) c.*147A>G (n.*147A>G) c.248A>G n.453A>G c.931A>G (p.Ser311Gly) c.283A>G (p.Ser95Gly) | |
| 4 | g.78865660A>T | CA357378612 | BMP2K | c.1171A>T (p.Ser391Cys) c.*147A>T (n.*147A>T) c.248A>T n.453A>T c.931A>T (p.Ser311Cys) c.283A>T (p.Ser95Cys) | |
| 4 | g.78865661G>A | CA357378613 | BMP2K | c.1172G>A (p.Ser391Asn) c.*148G>A (n.*148G>A) c.249G>A n.454G>A c.932G>A (p.Ser311Asn) c.284G>A (p.Ser95Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.78865661G>C | CA357378614 | BMP2K | c.1172G>C (p.Ser391Thr) c.*148G>C (n.*148G>C) c.249G>C n.454G>C c.932G>C (p.Ser311Thr) c.284G>C (p.Ser95Thr) | |
| 4 | g.78865661G= | CA1470731309 | BMP2K | c.1172G= (p.Ser391=) c.*148G= (n.*148G=) c.249G= n.454G= c.932G= (p.Ser311=) c.284G= (p.Ser95=) | |
| 4 | g.78865661G>T | CA357378615 | BMP2K | c.1172G>T (p.Ser391Ile) c.*148G>T (n.*148G>T) c.249G>T n.454G>T c.932G>T (p.Ser311Ile) c.284G>T (p.Ser95Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.78865662T>A | CA357378616 | BMP2K | c.1173T>A (p.Ser391Arg) c.*149T>A (n.*149T>A) c.250T>A n.455T>A c.933T>A (p.Ser311Arg) c.285T>A (p.Ser95Arg) | |
| 4 | g.78865662T>C | CA439976610 | BMP2K | c.1173T>C (p.Ser391=) c.*149T>C (n.*149T>C) c.250T>C n.455T>C c.933T>C (p.Ser311=) c.285T>C (p.Ser95=) | |
| 4 | g.78865662T>G | CA357378617 | BMP2K | c.1173T>G (p.Ser391Arg) c.*149T>G (n.*149T>G) c.250T>G n.455T>G c.933T>G (p.Ser311Arg) c.285T>G (p.Ser95Arg) | |
| 4 | g.78865663T>A | CA357378618 | BMP2K | c.1174T>A (p.Ser392Thr) c.*150T>A (n.*150T>A) c.251T>A n.456T>A c.934T>A (p.Ser312Thr) c.286T>A (p.Ser96Thr) | |
| 4 | g.78865663T>C | CA357378619 | BMP2K | c.1174T>C (p.Ser392Pro) c.*150T>C (n.*150T>C) c.251T>C n.456T>C c.934T>C (p.Ser312Pro) c.286T>C (p.Ser96Pro) | |
| 4 | g.78865663T>G | CA357378620 | BMP2K | c.1174T>G (p.Ser392Ala) c.*150T>G (n.*150T>G) c.251T>G n.456T>G c.934T>G (p.Ser312Ala) c.286T>G (p.Ser96Ala) | |
| 4 | g.78865664C>A | CA357378622 | BMP2K | c.1175C>A (p.Ser392Ter) c.*151C>A (n.*151C>A) c.252C>A n.457C>A c.935C>A (p.Ser312Ter) c.287C>A (p.Ser96Ter) | |
| 4 | g.78865664C>G | CA357378623 | BMP2K | c.1175C>G (p.Ser392Ter) c.*151C>G (n.*151C>G) c.252C>G n.457C>G c.935C>G (p.Ser312Ter) c.287C>G (p.Ser96Ter) | |
| 4 | g.78865664C>T | CA357378621 | BMP2K | c.1175C>T (p.Ser392Leu) c.*151C>T (n.*151C>T) c.252C>T n.457C>T c.935C>T (p.Ser312Leu) c.287C>T (p.Ser96Leu) | |
| 4 | g.78865665A= | CA1470731315 | BMP2K | c.1176A= (p.Ser392=) c.*152A= (n.*152A=) c.253A= n.458A= c.936A= (p.Ser312=) c.288A= (p.Ser96=) | |
| 4 | g.78865665A>C | CA439976613 | BMP2K | c.1176A>C (p.Ser392=) c.*152A>C (n.*152A>C) c.253A>C n.458A>C c.936A>C (p.Ser312=) c.288A>C (p.Ser96=) | |
| 4 | g.78865665A>G | CA2980209 | BMP2K | c.1176A>G (p.Ser392=) c.*152A>G (n.*152A>G) c.253A>G n.458A>G c.936A>G (p.Ser312=) c.288A>G (p.Ser96=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.78865665A>T | CA439976614 | BMP2K | c.1176A>T (p.Ser392=) c.*152A>T (n.*152A>T) c.253A>T n.458A>T c.936A>T (p.Ser312=) c.288A>T (p.Ser96=) | |
| 4 | g.78865666G>A | CA357378626 | BMP2K | c.1177G>A (p.Ala393Thr) c.*153G>A (n.*153G>A) c.254G>A n.459G>A c.937G>A (p.Ala313Thr) c.289G>A (p.Ala97Thr) | dbSNP gnomAD v4 |
| 4 | g.78865666G>C | CA357378624 | BMP2K | c.1177G>C (p.Ala393Pro) c.*153G>C (n.*153G>C) c.254G>C n.459G>C c.937G>C (p.Ala313Pro) c.289G>C (p.Ala97Pro) | |
| 4 | g.78865666G= | CA1470731319 | BMP2K | c.1177G= (p.Ala393=) c.*153G= (n.*153G=) c.254G= n.459G= c.937G= (p.Ala313=) c.289G= (p.Ala97=) | |
| 4 | g.78865666G>T | CA357378625 | BMP2K | c.1177G>T (p.Ala393Ser) c.*153G>T (n.*153G>T) c.254G>T n.459G>T c.937G>T (p.Ala313Ser) c.289G>T (p.Ala97Ser) | |
| 4 | g.78865667C>A | CA357378627 | BMP2K | c.1178C>A (p.Ala393Glu) c.*154C>A (n.*154C>A) c.255C>A n.460C>A c.938C>A (p.Ala313Glu) c.290C>A (p.Ala97Glu) | |
| 4 | g.78865667C>G | CA357378628 | BMP2K | c.1178C>G (p.Ala393Gly) c.*154C>G (n.*154C>G) c.255C>G n.460C>G c.938C>G (p.Ala313Gly) c.290C>G (p.Ala97Gly) | |
| 4 | g.78865667C>T | CA357378629 | BMP2K | c.1178C>T (p.Ala393Val) c.*154C>T (n.*154C>T) c.255C>T n.460C>T c.938C>T (p.Ala313Val) c.290C>T (p.Ala97Val) | |
| 4 | g.78865668A>C | CA439976622 | BMP2K | c.1179A>C (p.Ala393=) c.*155A>C (n.*155A>C) c.256A>C n.461A>C c.939A>C (p.Ala313=) c.291A>C (p.Ala97=) | |
| 4 | g.78865668A>G | CA439976624 | BMP2K | c.1179A>G (p.Ala393=) c.*155A>G (n.*155A>G) c.256A>G n.461A>G c.939A>G (p.Ala313=) c.291A>G (p.Ala97=) | |
| 4 | g.78865668A>T | CA439976625 | BMP2K | c.1179A>T (p.Ala393=) c.*155A>T (n.*155A>T) c.256A>T n.461A>T c.939A>T (p.Ala313=) c.291A>T (p.Ala97=) | |
| 4 | g.78865669A>C | CA357378630 | BMP2K | c.1180A>C (p.Thr394Pro) c.*156A>C (n.*156A>C) c.257A>C n.462A>C c.940A>C (p.Thr314Pro) c.292A>C (p.Thr98Pro) | |
| 4 | g.78865669A>G | CA357378631 | BMP2K | c.1180A>G (p.Thr394Ala) c.*156A>G (n.*156A>G) c.257A>G n.462A>G c.940A>G (p.Thr314Ala) c.292A>G (p.Thr98Ala) | |
| 4 | g.78865669A>T | CA357378632 | BMP2K | c.1180A>T (p.Thr394Ser) c.*156A>T (n.*156A>T) c.257A>T n.462A>T c.940A>T (p.Thr314Ser) c.292A>T (p.Thr98Ser) | |
| 4 | g.78865670C>A | CA357378633 | BMP2K | c.1181C>A (p.Thr394Lys) c.*157C>A (n.*157C>A) c.258C>A n.463C>A c.941C>A (p.Thr314Lys) c.293C>A (p.Thr98Lys) | |
| 4 | g.78865670C>G | CA357378634 | BMP2K | c.1181C>G (p.Thr394Arg) c.*157C>G (n.*157C>G) c.258C>G n.463C>G c.941C>G (p.Thr314Arg) c.293C>G (p.Thr98Arg) | |
| 4 | g.78865670C>T | CA357378635 | BMP2K | c.1181C>T (p.Thr394Ile) c.*157C>T (n.*157C>T) c.258C>T n.463C>T c.941C>T (p.Thr314Ile) c.293C>T (p.Thr98Ile) | gnomAD v4 |
| 4 | g.78865671A>C | CA439976632 | BMP2K | c.1182A>C (p.Thr394=) c.*158A>C (n.*158A>C) c.259A>C n.464A>C c.942A>C (p.Thr314=) c.294A>C (p.Thr98=) | |
| 4 | g.78865671A>G | CA439976637 | BMP2K | c.1182A>G (p.Thr394=) c.*158A>G (n.*158A>G) c.259A>G n.464A>G c.942A>G (p.Thr314=) c.294A>G (p.Thr98=) | |
| 4 | g.78865671A>T | CA439976633 | BMP2K | c.1182A>T (p.Thr394=) c.*158A>T (n.*158A>T) c.259A>T n.464A>T c.942A>T (p.Thr314=) c.294A>T (p.Thr98=) | |
| 4 | g.78865672C>A | CA357378637 | BMP2K | c.1183C>A (p.Pro395Thr) c.*159C>A (n.*159C>A) c.260C>A n.465C>A c.943C>A (p.Pro315Thr) c.295C>A (p.Pro99Thr) | |
| 4 | g.78865672C= | CA1470731323 | BMP2K | c.1183C= (p.Pro395=) c.*159C= (n.*159C=) c.260C= n.465C= c.943C= (p.Pro315=) c.295C= (p.Pro99=) | |
| 4 | g.78865672C>G | CA357378636 | BMP2K | c.1183C>G (p.Pro395Ala) c.*159C>G (n.*159C>G) c.260C>G n.465C>G c.943C>G (p.Pro315Ala) c.295C>G (p.Pro99Ala) | |
| 4 | g.78865672C>T | CA99975190 | BMP2K | c.1183C>T (p.Pro395Ser) c.*159C>T (n.*159C>T) c.260C>T n.465C>T c.943C>T (p.Pro315Ser) c.295C>T (p.Pro99Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.78865673C>A | CA357378638 | BMP2K | c.1184C>A (p.Pro395His) c.*160C>A (n.*160C>A) c.261C>A n.466C>A c.944C>A (p.Pro315His) c.296C>A (p.Pro99His) | |
| 4 | g.78865673C= | CA1470731327 | BMP2K | c.1184C= (p.Pro395=) c.*160C= (n.*160C=) c.261C= n.466C= c.944C= (p.Pro315=) c.296C= (p.Pro99=) | |
| 4 | g.78865673C>G | CA357378639 | BMP2K | c.1184C>G (p.Pro395Arg) c.*160C>G (n.*160C>G) c.261C>G n.466C>G c.944C>G (p.Pro315Arg) c.296C>G (p.Pro99Arg) | |
| 4 | g.78865673C>T | CA357378640 | BMP2K | c.1184C>T (p.Pro395Leu) c.*160C>T (n.*160C>T) c.261C>T n.466C>T c.944C>T (p.Pro315Leu) c.296C>T (p.Pro99Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.78865674T>A | CA439976640 | BMP2K | c.1185T>A (p.Pro395=) c.*161T>A (n.*161T>A) c.262T>A n.467T>A c.945T>A (p.Pro315=) c.297T>A (p.Pro99=) | |
| 4 | g.78865674T>C | CA439976641 | BMP2K | c.1185T>C (p.Pro395=) c.*161T>C (n.*161T>C) c.262T>C n.467T>C c.945T>C (p.Pro315=) c.297T>C (p.Pro99=) | |
| 4 | g.78865674T>G | CA439976643 | BMP2K | c.1185T>G (p.Pro395=) c.*161T>G (n.*161T>G) c.262T>G n.467T>G c.945T>G (p.Pro315=) c.297T>G (p.Pro99=) | |
| 4 | g.78865675G>A | CA357378641 | BMP2K | c.1186G>A (p.Val396Ile) c.*162G>A (n.*162G>A) c.263G>A n.468G>A c.946G>A (p.Val316Ile) c.298G>A (p.Val100Ile) | |
| 4 | g.78865675G>C | CA357378642 | BMP2K | c.1186G>C (p.Val396Leu) c.*162G>C (n.*162G>C) c.263G>C n.468G>C c.946G>C (p.Val316Leu) c.298G>C (p.Val100Leu) | |
| 4 | g.78865675G>T | CA357378643 | BMP2K | c.1186G>T (p.Val396Phe) c.*162G>T (n.*162G>T) c.263G>T n.468G>T c.946G>T (p.Val316Phe) c.298G>T (p.Val100Phe) | |
| 4 | g.78865676T>A | CA357378644 | BMP2K | c.1187T>A (p.Val396Asp) c.*163T>A (n.*163T>A) c.264T>A n.469T>A c.947T>A (p.Val316Asp) c.299T>A (p.Val100Asp) | |
| 4 | g.78865676T>C | CA357378645 | BMP2K | c.1187T>C (p.Val396Ala) c.*163T>C (n.*163T>C) c.264T>C n.469T>C c.947T>C (p.Val316Ala) c.299T>C (p.Val100Ala) | |
| 4 | g.78865676T>G | CA357378646 | BMP2K | c.1187T>G (p.Val396Gly) c.*163T>G (n.*163T>G) c.264T>G n.469T>G c.947T>G (p.Val316Gly) c.299T>G (p.Val100Gly) | |
| 4 | g.78865677T>A | CA2980210 | BMP2K | c.1188T>A (p.Val396=) c.*164T>A (n.*164T>A) c.265T>A n.470T>A c.948T>A (p.Val316=) c.300T>A (p.Val100=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.78865677T>C | CA439976647 | BMP2K | c.1188T>C (p.Val396=) c.*164T>C (n.*164T>C) c.265T>C n.470T>C c.948T>C (p.Val316=) c.300T>C (p.Val100=) | |
| 4 | g.78865677T>G | CA439976648 | BMP2K | c.1188T>G (p.Val396=) c.*164T>G (n.*164T>G) c.265T>G n.470T>G c.948T>G (p.Val316=) c.300T>G (p.Val100=) | |
| 4 | g.78865677T= | CA1470731330 | BMP2K | c.1188T= (p.Val396=) c.*164T= (n.*164T=) c.265T= n.470T= c.948T= (p.Val316=) c.300T= (p.Val100=) | |
| 4 | g.78865678A>C | CA357378647 | BMP2K | c.1189A>C (p.Lys397Gln) c.*165A>C (n.*165A>C) c.266A>C n.471A>C c.949A>C (p.Lys317Gln) c.301A>C (p.Lys101Gln) | |
| 4 | g.78865678A>G | CA357378648 | BMP2K | c.1189A>G (p.Lys397Glu) c.*165A>G (n.*165A>G) c.266A>G n.471A>G c.949A>G (p.Lys317Glu) c.301A>G (p.Lys101Glu) | |
| 4 | g.78865678A>T | CA357378649 | BMP2K | c.1189A>T (p.Lys397Ter) c.*165A>T (n.*165A>T) c.266A>T n.471A>T c.949A>T (p.Lys317Ter) c.301A>T (p.Lys101Ter) | |
| 4 | g.78865680dup | CA1470731335 | BMP2K | c.1191dup (p.Val398SerfsTer6) c.*167dup (n.*167dup) c.268dup n.473dup c.951dup (p.Val318SerfsTer6) c.303dup (p.Val102SerfsTer6) | dbSNP |
| 4 | g.78865679A>C | CA357378652 | BMP2K | c.1190A>C (p.Lys397Thr) c.*166A>C (n.*166A>C) c.267A>C n.472A>C c.950A>C (p.Lys317Thr) c.302A>C (p.Lys101Thr) | |
| 4 | g.78865679A>G | CA357378651 | BMP2K | c.1190A>G (p.Lys397Arg) c.*166A>G (n.*166A>G) c.267A>G n.472A>G c.950A>G (p.Lys317Arg) c.302A>G (p.Lys101Arg) | gnomAD v4 |
| 4 | g.78865679A>T | CA357378650 | BMP2K | c.1190A>T (p.Lys397Ile) c.*166A>T (n.*166A>T) c.267A>T n.472A>T c.950A>T (p.Lys317Ile) c.302A>T (p.Lys101Ile) | |
| 4 | g.78865680A>C | CA357378654 | BMP2K | c.1191A>C (p.Lys397Asn) c.*167A>C (n.*167A>C) c.268A>C n.473A>C c.951A>C (p.Lys317Asn) c.303A>C (p.Lys101Asn) | |
| 4 | g.78865680A>G | CA439976653 | BMP2K | c.1191A>G (p.Lys397=) c.*167A>G (n.*167A>G) c.268A>G n.473A>G c.951A>G (p.Lys317=) c.303A>G (p.Lys101=) | |
| 4 | g.78865680A>T | CA357378653 | BMP2K | c.1191A>T (p.Lys397Asn) c.*167A>T (n.*167A>T) c.268A>T n.473A>T c.951A>T (p.Lys317Asn) c.303A>T (p.Lys101Asn) | |
| 4 | g.78865681G>A | CA357378655 | BMP2K | c.1192G>A (p.Val398Ile) c.*168G>A (n.*168G>A) c.269G>A n.474G>A c.952G>A (p.Val318Ile) c.304G>A (p.Val102Ile) | |
| 4 | g.78865681G>C | CA357378656 | BMP2K | c.1192G>C (p.Val398Leu) c.*168G>C (n.*168G>C) c.269G>C n.474G>C c.952G>C (p.Val318Leu) c.304G>C (p.Val102Leu) | |
| 4 | g.78865681G>T | CA357378657 | BMP2K | c.1192G>T (p.Val398Phe) c.*168G>T (n.*168G>T) c.269G>T n.474G>T c.952G>T (p.Val318Phe) c.304G>T (p.Val102Phe) | |
| 4 | g.78865682T>A | CA357378658 | BMP2K | c.1193T>A (p.Val398Asp) c.*169T>A (n.*169T>A) c.270T>A n.475T>A c.953T>A (p.Val318Asp) c.305T>A (p.Val102Asp) | |
| 4 | g.78865682T>C | CA357378659 | BMP2K | c.1193T>C (p.Val398Ala) c.*169T>C (n.*169T>C) c.270T>C n.475T>C c.953T>C (p.Val318Ala) c.305T>C (p.Val102Ala) | |
| 4 | g.78865682T>G | CA357378660 | BMP2K | c.1193T>G (p.Val398Gly) c.*169T>G (n.*169T>G) c.270T>G n.475T>G c.953T>G (p.Val318Gly) c.305T>G (p.Val102Gly) | |
| 4 | g.78865683C>A | CA439976658 | BMP2K | c.1194C>A (p.Val398=) c.*170C>A (n.*170C>A) c.271C>A n.476C>A c.954C>A (p.Val318=) c.306C>A (p.Val102=) | |
| 4 | g.78865683C= | CA1470731340 | BMP2K | c.1194C= (p.Val398=) c.*170C= (n.*170C=) c.271C= n.476C= c.954C= (p.Val318=) c.306C= (p.Val102=) | |
| 4 | g.78865683C>G | CA439976660 | BMP2K | c.1194C>G (p.Val398=) c.*170C>G (n.*170C>G) c.271C>G n.476C>G c.954C>G (p.Val318=) c.306C>G (p.Val102=) | |
| 4 | g.78865683C>T | CA2980211 | BMP2K | c.1194C>T (p.Val398=) c.*170C>T (n.*170C>T) c.271C>T n.476C>T c.954C>T (p.Val318=) c.306C>T (p.Val102=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.78865684C>A | CA357378661 | BMP2K | c.1195C>A (p.Leu399Ile) c.*171C>A (n.*171C>A) c.272C>A n.477C>A c.955C>A (p.Leu319Ile) c.307C>A (p.Leu103Ile) | |
| 4 | g.78865684C>G | CA357378662 | BMP2K | c.1195C>G (p.Leu399Val) c.*171C>G (n.*171C>G) c.272C>G n.477C>G c.955C>G (p.Leu319Val) c.307C>G (p.Leu103Val) | gnomAD v4 |
| 4 | g.78865684C>T | CA357378663 | BMP2K | c.1195C>T (p.Leu399Phe) c.*171C>T (n.*171C>T) c.272C>T n.477C>T c.955C>T (p.Leu319Phe) c.307C>T (p.Leu103Phe) | |
| 4 | g.78865685T>A | CA357378664 | BMP2K | c.1196T>A (p.Leu399His) c.*172T>A (n.*172T>A) c.273T>A n.478T>A c.956T>A (p.Leu319His) c.308T>A (p.Leu103His) | |
| 4 | g.78865685T>C | CA357378665 | BMP2K | c.1196T>C (p.Leu399Pro) c.*172T>C (n.*172T>C) c.273T>C n.478T>C c.956T>C (p.Leu319Pro) c.308T>C (p.Leu103Pro) | |
| 4 | g.78865685T>G | CA357378666 | BMP2K | c.1196T>G (p.Leu399Arg) c.*172T>G (n.*172T>G) c.273T>G n.478T>G c.956T>G (p.Leu319Arg) c.308T>G (p.Leu103Arg) | |
| 4 | g.78865686T>A | CA439976670 | BMP2K | c.1197T>A (p.Leu399=) c.*173T>A (n.*173T>A) c.274T>A n.479T>A c.957T>A (p.Leu319=) c.309T>A (p.Leu103=) | |
| 4 | g.78865686T>C | CA439976671 | BMP2K | c.1197T>C (p.Leu399=) c.*173T>C (n.*173T>C) c.274T>C n.479T>C c.957T>C (p.Leu319=) c.309T>C (p.Leu103=) | |
| 4 | g.78865686T>G | CA439976672 | BMP2K | c.1197T>G (p.Leu399=) c.*173T>G (n.*173T>G) c.274T>G n.479T>G c.957T>G (p.Leu319=) c.309T>G (p.Leu103=) | |
| 4 | g.78865687G>A | CA357378667 | BMP2K | c.1198G>A (p.Ala400Thr) c.*174G>A (n.*174G>A) c.275G>A n.480G>A c.958G>A (p.Ala320Thr) c.310G>A (p.Ala104Thr) | |
| 4 | g.78865687G>C | CA357378669 | BMP2K | c.1198G>C (p.Ala400Pro) c.*174G>C (n.*174G>C) c.275G>C n.480G>C c.958G>C (p.Ala320Pro) c.310G>C (p.Ala104Pro) | |
| 4 | g.78865687G>T | CA357378668 | BMP2K | c.1198G>T (p.Ala400Ser) c.*174G>T (n.*174G>T) c.275G>T n.480G>T c.958G>T (p.Ala320Ser) c.310G>T (p.Ala104Ser) | gnomAD v4 |
| 4 | g.78865688C>A | CA357378670 | BMP2K | c.1199C>A (p.Ala400Asp) c.*175C>A (n.*175C>A) c.276C>A n.481C>A c.959C>A (p.Ala320Asp) c.311C>A (p.Ala104Asp) | |
| 4 | g.78865688C>G | CA357378671 | BMP2K | c.1199C>G (p.Ala400Gly) c.*175C>G (n.*175C>G) c.276C>G n.481C>G c.959C>G (p.Ala320Gly) c.311C>G (p.Ala104Gly) | |
| 4 | g.78865688C>T | CA357378672 | BMP2K | c.1199C>T (p.Ala400Val) c.*175C>T (n.*175C>T) c.276C>T n.481C>T c.959C>T (p.Ala320Val) c.311C>T (p.Ala104Val) | COSMIC COSMIC |
| 4 | g.78865689T>A | CA439976674 | BMP2K | c.1200T>A (p.Ala400=) c.*176T>A (n.*176T>A) c.277T>A n.482T>A c.960T>A (p.Ala320=) c.312T>A (p.Ala104=) | |
| 4 | g.78865689T>C | CA439976676 | BMP2K | c.1200T>C (p.Ala400=) c.*176T>C (n.*176T>C) c.277T>C n.482T>C c.960T>C (p.Ala320=) c.312T>C (p.Ala104=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.78865689T>G | CA439976678 | BMP2K | c.1200T>G (p.Ala400=) c.*176T>G (n.*176T>G) c.277T>G n.482T>G c.960T>G (p.Ala320=) c.312T>G (p.Ala104=) | |
| 4 | g.78865689T= | CA1470731344 | BMP2K | c.1200T= (p.Ala400=) c.*176T= (n.*176T=) c.277T= n.482T= c.960T= (p.Ala320=) c.312T= (p.Ala104=) | |
| 4 | g.78865690C>A | CA357378673 | BMP2K | c.1201C>A (p.Pro401Thr) c.*177C>A (n.*177C>A) c.278C>A n.483C>A c.961C>A (p.Pro321Thr) c.313C>A (p.Pro105Thr) | |
| 4 | g.78865690C= | CA1470731350 | BMP2K | c.1201C= (p.Pro401=) c.*177C= (n.*177C=) c.278C= n.483C= c.961C= (p.Pro321=) c.313C= (p.Pro105=) | |
| 4 | g.78865690C>G | CA357378674 | BMP2K | c.1201C>G (p.Pro401Ala) c.*177C>G (n.*177C>G) c.278C>G n.483C>G c.961C>G (p.Pro321Ala) c.313C>G (p.Pro105Ala) | gnomAD v4 |
| 4 | g.78865690C>T | CA2980212 | BMP2K | c.1201C>T (p.Pro401Ser) c.*177C>T (n.*177C>T) c.278C>T n.483C>T c.961C>T (p.Pro321Ser) c.313C>T (p.Pro105Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.78865691C>A | CA357378675 | BMP2K | c.1202C>A (p.Pro401His) c.*178C>A (n.*178C>A) c.279C>A n.484C>A c.962C>A (p.Pro321His) c.314C>A (p.Pro105His) | |
| 4 | g.78865691C= | CA1470731353 | BMP2K | c.1202C= (p.Pro401=) c.*178C= (n.*178C=) c.279C= n.484C= c.962C= (p.Pro321=) c.314C= (p.Pro105=) | |
| 4 | g.78865691C>G | CA357378676 | BMP2K | c.1202C>G (p.Pro401Arg) c.*178C>G (n.*178C>G) c.279C>G n.484C>G c.962C>G (p.Pro321Arg) c.314C>G (p.Pro105Arg) | gnomAD v4 |
| 4 | g.78865691C>T | CA2980213 | BMP2K | c.1202C>T (p.Pro401Leu) c.*178C>T (n.*178C>T) c.279C>T n.484C>T c.962C>T (p.Pro321Leu) c.314C>T (p.Pro105Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.78865692T>A | CA439976683 | BMP2K | c.1203T>A (p.Pro401=) c.*179T>A (n.*179T>A) c.280T>A n.485T>A c.963T>A (p.Pro321=) c.315T>A (p.Pro105=) | |
| 4 | g.78865692T>C | CA439976682 | BMP2K | c.1203T>C (p.Pro401=) c.*179T>C (n.*179T>C) c.280T>C n.485T>C c.963T>C (p.Pro321=) c.315T>C (p.Pro105=) | |
| 4 | g.78865692T>G | CA439976681 | BMP2K | c.1203T>G (p.Pro401=) c.*179T>G (n.*179T>G) c.280T>G n.485T>G c.963T>G (p.Pro321=) c.315T>G (p.Pro105=) | |
| 4 | g.78865693G>A | CA357378677 | BMP2K | c.1204G>A (p.Gly402Ser) c.*180G>A (n.*180G>A) c.281G>A n.486G>A c.964G>A (p.Gly322Ser) c.316G>A (p.Gly106Ser) | |
| 4 | g.78865693G>C | CA357378678 | BMP2K | c.1204G>C (p.Gly402Arg) c.*180G>C (n.*180G>C) c.281G>C n.486G>C c.964G>C (p.Gly322Arg) c.316G>C (p.Gly106Arg) | |
| 4 | g.78865693G>T | CA357378679 | BMP2K | c.1204G>T (p.Gly402Cys) c.*180G>T (n.*180G>T) c.281G>T n.486G>T c.964G>T (p.Gly322Cys) c.316G>T (p.Gly106Cys) | |
| 4 | g.78865694G>A | CA357378681 | BMP2K | c.1205G>A (p.Gly402Asp) c.*181G>A (n.*181G>A) c.282G>A n.487G>A c.965G>A (p.Gly322Asp) c.317G>A (p.Gly106Asp) | gnomAD v4 COSMIC COSMIC |
| 4 | g.78865694G>C | CA357378682 | BMP2K | c.1205G>C (p.Gly402Ala) c.*181G>C (n.*181G>C) c.282G>C n.487G>C c.965G>C (p.Gly322Ala) c.317G>C (p.Gly106Ala) | gnomAD v4 |
| 4 | g.78865694G>T | CA357378680 | BMP2K | c.1205G>T (p.Gly402Val) c.*181G>T (n.*181G>T) c.282G>T n.487G>T c.965G>T (p.Gly322Val) c.317G>T (p.Gly106Val) | |
| 4 | g.78865695T>A | CA439976691 | BMP2K | c.1206T>A (p.Gly402=) c.*182T>A (n.*182T>A) c.283T>A n.488T>A c.966T>A (p.Gly322=) c.318T>A (p.Gly106=) | |
| 4 | g.78865695T>C | CA439976689 | BMP2K | c.1206T>C (p.Gly402=) c.*182T>C (n.*182T>C) c.283T>C n.488T>C c.966T>C (p.Gly322=) c.318T>C (p.Gly106=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.78865695T>G | CA439976688 | BMP2K | c.1206T>G (p.Gly402=) c.*182T>G (n.*182T>G) c.283T>G n.488T>G c.966T>G (p.Gly322=) c.318T>G (p.Gly106=) | |
| 4 | g.78865695T= | CA1470731363 | BMP2K | c.1206T= (p.Gly402=) c.*182T= (n.*182T=) c.283T= n.488T= c.966T= (p.Gly322=) c.318T= (p.Gly106=) | |
| 4 | g.78865696G>A | CA357378683 | BMP2K | c.1207G>A (p.Glu403Lys) c.*183G>A (n.*183G>A) c.284G>A n.489G>A c.967G>A (p.Glu323Lys) c.319G>A (p.Glu107Lys) | |
| 4 | g.78865696G>C | CA357378685 | BMP2K | c.1207G>C (p.Glu403Gln) c.*183G>C (n.*183G>C) c.284G>C n.489G>C c.967G>C (p.Glu323Gln) c.319G>C (p.Glu107Gln) | |
| 4 | g.78865696G>T | CA357378684 | BMP2K | c.1207G>T (p.Glu403Ter) c.*183G>T (n.*183G>T) c.284G>T n.489G>T c.967G>T (p.Glu323Ter) c.319G>T (p.Glu107Ter) | |
| 4 | g.78865697A= | CA1470731370 | BMP2K | c.1208A= (p.Glu403=) c.*184A= (n.*184A=) c.285A= n.490A= c.968A= (p.Glu323=) c.320A= (p.Glu107=) | |
| 4 | g.78865697A>C | CA357378686 | BMP2K | c.1208A>C (p.Glu403Ala) c.*184A>C (n.*184A>C) c.285A>C n.490A>C c.968A>C (p.Glu323Ala) c.320A>C (p.Glu107Ala) | |
| 4 | g.78865697A>G | CA2980214 | BMP2K | c.1208A>G (p.Glu403Gly) c.*184A>G (n.*184A>G) c.285A>G n.490A>G c.968A>G (p.Glu323Gly) c.320A>G (p.Glu107Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.78865697A>T | CA357378687 | BMP2K | c.1208A>T (p.Glu403Val) c.*184A>T (n.*184A>T) c.285A>T n.490A>T c.968A>T (p.Glu323Val) c.320A>T (p.Glu107Val) | |
| 4 | g.78865698A>C | CA357378688 | BMP2K | c.1209A>C (p.Glu403Asp) c.*185A>C (n.*185A>C) c.286A>C n.491A>C c.969A>C (p.Glu323Asp) c.321A>C (p.Glu107Asp) | |
| 4 | g.78865698A>G | CA439976694 | BMP2K | c.1209A>G (p.Glu403=) c.*185A>G (n.*185A>G) c.286A>G n.491A>G c.969A>G (p.Glu323=) c.321A>G (p.Glu107=) | |
| 4 | g.78865698A>T | CA357378689 | BMP2K | c.1209A>T (p.Glu403Asp) c.*185A>T (n.*185A>T) c.286A>T n.491A>T c.969A>T (p.Glu323Asp) c.321A>T (p.Glu107Asp) | |
| 4 | g.78865699T>A | CA357378690 | BMP2K | c.1210T>A (p.Phe404Ile) c.*186T>A (n.*186T>A) c.287T>A n.492T>A c.970T>A (p.Phe324Ile) c.322T>A (p.Phe108Ile) | |
| 4 | g.78865699T>C | CA357378691 | BMP2K | c.1210T>C (p.Phe404Leu) c.*186T>C (n.*186T>C) c.287T>C n.492T>C c.970T>C (p.Phe324Leu) c.322T>C (p.Phe108Leu) | |
| 4 | g.78865699T>G | CA357378692 | BMP2K | c.1210T>G (p.Phe404Val) c.*186T>G (n.*186T>G) c.287T>G n.492T>G c.970T>G (p.Phe324Val) c.322T>G (p.Phe108Val) | |
| 4 | g.78865700T>A | CA357378693 | BMP2K | c.1211T>A (p.Phe404Tyr) c.*187T>A (n.*187T>A) c.288T>A n.493T>A c.971T>A (p.Phe324Tyr) c.323T>A (p.Phe108Tyr) | |
| 4 | g.78865700T>C | CA357378694 | BMP2K | c.1211T>C (p.Phe404Ser) c.*187T>C (n.*187T>C) c.288T>C n.493T>C c.971T>C (p.Phe324Ser) c.323T>C (p.Phe108Ser) | |
| 4 | g.78865700T>G | CA357378695 | BMP2K | c.1211T>G (p.Phe404Cys) c.*187T>G (n.*187T>G) c.288T>G n.493T>G c.971T>G (p.Phe324Cys) c.323T>G (p.Phe108Cys) | |
| 4 | g.78865701C>A | CA2980215 | BMP2K | c.1212C>A (p.Phe404Leu) c.*188C>A (n.*188C>A) c.289C>A n.494C>A c.972C>A (p.Phe324Leu) c.324C>A (p.Phe108Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.78865701C= | CA1470731374 | BMP2K | c.1212C= (p.Phe404=) c.*188C= (n.*188C=) c.289C= n.494C= c.972C= (p.Phe324=) c.324C= (p.Phe108=) | |
| 4 | g.78865701C>G | CA357378696 | BMP2K | c.1212C>G (p.Phe404Leu) c.*188C>G (n.*188C>G) c.289C>G n.494C>G c.972C>G (p.Phe324Leu) c.324C>G (p.Phe108Leu) | |
| 4 | g.78865701C>T | CA439976705 | BMP2K | c.1212C>T (p.Phe404=) c.*188C>T (n.*188C>T) c.289C>T n.494C>T c.972C>T (p.Phe324=) c.324C>T (p.Phe108=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.78865702G>A | CA2980216 | BMP2K | c.1213G>A (p.Gly405Ser) c.*189G>A (n.*189G>A) c.290G>A n.495G>A c.973G>A (p.Gly325Ser) c.325G>A (p.Gly109Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.78865702G>C | CA357378697 | BMP2K | c.1213G>C (p.Gly405Arg) c.*189G>C (n.*189G>C) c.290G>C n.495G>C c.973G>C (p.Gly325Arg) c.325G>C (p.Gly109Arg) | |
| 4 | g.78865702G= | CA1470731378 | BMP2K | c.1213G= (p.Gly405=) c.*189G= (n.*189G=) c.290G= n.495G= c.973G= (p.Gly325=) c.325G= (p.Gly109=) | |
| 4 | g.78865702G>T | CA357378698 | BMP2K | c.1213G>T (p.Gly405Cys) c.*189G>T (n.*189G>T) c.290G>T n.495G>T c.973G>T (p.Gly325Cys) c.325G>T (p.Gly109Cys) | |
| 4 | g.78865703G>A | CA357378699 | BMP2K | c.1214G>A (p.Gly405Asp) c.*190G>A (n.*190G>A) c.291G>A n.496G>A c.974G>A (p.Gly325Asp) c.326G>A (p.Gly109Asp) | dbSNP gnomAD v4 |
| 4 | g.78865703G>C | CA357378700 | BMP2K | c.1214G>C (p.Gly405Ala) c.*190G>C (n.*190G>C) c.291G>C n.496G>C c.974G>C (p.Gly325Ala) c.326G>C (p.Gly109Ala) | dbSNP gnomAD v4 |
| 4 | g.78865703G= | CA1470731383 | BMP2K | c.1214G= (p.Gly405=) c.*190G= (n.*190G=) c.291G= n.496G= c.974G= (p.Gly325=) c.326G= (p.Gly109=) | |
| 4 | g.78865703G>T | CA357378701 | BMP2K | c.1214G>T (p.Gly405Val) c.*190G>T (n.*190G>T) c.291G>T n.496G>T c.974G>T (p.Gly325Val) c.326G>T (p.Gly109Val) | |
| 4 | g.78865704T>A | CA439976711 | BMP2K | c.1215T>A (p.Gly405=) c.*191T>A (n.*191T>A) c.292T>A n.497T>A c.975T>A (p.Gly325=) c.327T>A (p.Gly109=) | |
| 4 | g.78865704T>C | CA439976712 | BMP2K | c.1215T>C (p.Gly405=) c.*191T>C (n.*191T>C) c.292T>C n.497T>C c.975T>C (p.Gly325=) c.327T>C (p.Gly109=) | |
| 4 | g.78865704T>G | CA439976714 | BMP2K | c.1215T>G (p.Gly405=) c.*191T>G (n.*191T>G) c.292T>G n.497T>G c.975T>G (p.Gly325=) c.327T>G (p.Gly109=) | |
| 4 | g.78865705A>C | CA357378702 | BMP2K | c.1216A>C (p.Asn406His) c.*192A>C (n.*192A>C) c.293A>C n.498A>C c.976A>C (p.Asn326His) c.328A>C (p.Asn110His) | |
| 4 | g.78865705A>G | CA357378703 | BMP2K | c.1216A>G (p.Asn406Asp) c.*192A>G (n.*192A>G) c.293A>G n.498A>G c.976A>G (p.Asn326Asp) c.328A>G (p.Asn110Asp) | |
| 4 | g.78865705A>T | CA357378704 | BMP2K | c.1216A>T (p.Asn406Tyr) c.*192A>T (n.*192A>T) c.293A>T n.498A>T c.976A>T (p.Asn326Tyr) c.328A>T (p.Asn110Tyr) | |
| 4 | g.78865706A= | CA1470731387 | BMP2K | c.1217A= (p.Asn406=) c.*193A= (n.*193A=) c.294A= n.499A= c.977A= (p.Asn326=) c.329A= (p.Asn110=) | |
| 4 | g.78865706A>C | CA357378705 | BMP2K | c.1217A>C (p.Asn406Thr) c.*193A>C (n.*193A>C) c.294A>C n.499A>C c.977A>C (p.Asn326Thr) c.329A>C (p.Asn110Thr) | |
| 4 | g.78865706A>G | CA2980217 | BMP2K | c.1217A>G (p.Asn406Ser) c.*193A>G (n.*193A>G) c.294A>G n.499A>G c.977A>G (p.Asn326Ser) c.329A>G (p.Asn110Ser) | dbSNP ExAC gnomAD v2 |
| 4 | g.78865706A>T | CA357378706 | BMP2K | c.1217A>T (p.Asn406Ile) c.*193A>T (n.*193A>T) c.294A>T n.499A>T c.977A>T (p.Asn326Ile) c.329A>T (p.Asn110Ile) | |
| 4 | g.78865707C>A | CA2980218 | BMP2K | c.1218C>A (p.Asn406Lys) c.*194C>A (n.*194C>A) c.295C>A n.500C>A c.978C>A (p.Asn326Lys) c.330C>A (p.Asn110Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.78865707C= | CA1470731393 | BMP2K | c.1218C= (p.Asn406=) c.*194C= (n.*194C=) c.295C= n.500C= c.978C= (p.Asn326=) c.330C= (p.Asn110=) | |
| 4 | g.78865707C>G | CA357378707 | BMP2K | c.1218C>G (p.Asn406Lys) c.*194C>G (n.*194C>G) c.295C>G n.500C>G c.978C>G (p.Asn326Lys) c.330C>G (p.Asn110Lys) | gnomAD v4 |
| 4 | g.78865707C>T | CA439976721 | BMP2K | c.1218C>T (p.Asn406=) c.*194C>T (n.*194C>T) c.295C>T n.500C>T c.978C>T (p.Asn326=) c.330C>T (p.Asn110=) | |
| 4 | g.78865708C>A | CA357378708 | BMP2K | c.1219C>A (p.His407Asn) c.*195C>A (n.*195C>A) c.296C>A n.501C>A c.979C>A (p.His327Asn) c.331C>A (p.His111Asn) | |
| 4 | g.78865708C>G | CA357378709 | BMP2K | c.1219C>G (p.His407Asp) c.*195C>G (n.*195C>G) c.296C>G n.501C>G c.979C>G (p.His327Asp) c.331C>G (p.His111Asp) | |
| 4 | g.78865708C>T | CA357378710 | BMP2K | c.1219C>T (p.His407Tyr) c.*195C>T (n.*195C>T) c.296C>T n.501C>T c.979C>T (p.His327Tyr) c.331C>T (p.His111Tyr) | |
| 4 | g.78865709del | CA2671157131 | BMP2K | c.1220del (p.His407LeufsTer7) c.*196del (n.*196del) c.297del n.502del c.980del (p.His327LeufsTer7) c.332del (p.His111LeufsTer7) | gnomAD v4 |
| 4 | g.78865709A= | CA1470731397 | BMP2K | c.1220A= (p.His407=) c.*196A= (n.*196A=) c.297A= n.502A= c.980A= (p.His327=) c.332A= (p.His111=) | |
| 4 | g.78865709A>C | CA357378711 | BMP2K | c.1220A>C (p.His407Pro) c.*196A>C (n.*196A>C) c.297A>C n.502A>C c.980A>C (p.His327Pro) c.332A>C (p.His111Pro) | |
| 4 | g.78865709A>G | CA99975241 | BMP2K | c.1220A>G (p.His407Arg) c.*196A>G (n.*196A>G) c.297A>G n.502A>G c.980A>G (p.His327Arg) c.332A>G (p.His111Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.78865709A>T | CA357378712 | BMP2K | c.1220A>T (p.His407Leu) c.*196A>T (n.*196A>T) c.297A>T n.502A>T c.980A>T (p.His327Leu) c.332A>T (p.His111Leu) | |
| 4 | g.78865710T>A | CA2980219 | BMP2K | c.1221T>A (p.His407Gln) c.*197T>A (n.*197T>A) c.298T>A n.503T>A c.981T>A (p.His327Gln) c.333T>A (p.His111Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.78865710T>C | CA439976727 | BMP2K | c.1221T>C (p.His407=) c.*197T>C (n.*197T>C) c.298T>C n.503T>C c.981T>C (p.His327=) c.333T>C (p.His111=) | dbSNP |
| 4 | g.78865710T>G | CA357378713 | BMP2K | c.1221T>G (p.His407Gln) c.*197T>G (n.*197T>G) c.298T>G n.503T>G c.981T>G (p.His327Gln) c.333T>G (p.His111Gln) | |
| 4 | g.78865710T= | CA1470731404 | BMP2K | c.1221T= (p.His407=) c.*197T= (n.*197T=) c.298T= n.503T= c.981T= (p.His327=) c.333T= (p.His111=) | |
| 4 | g.78865711A>C | CA439976729 | BMP2K | c.1222A>C (p.Arg408=) c.*198A>C (n.*198A>C) c.299A>C n.504A>C c.982A>C (p.Arg328=) c.334A>C (p.Arg112=) | |
| 4 | g.78865711A>G | CA357378714 | BMP2K | c.1222A>G (p.Arg408Gly) c.*198A>G (n.*198A>G) c.299A>G n.504A>G c.982A>G (p.Arg328Gly) c.334A>G (p.Arg112Gly) | |
| 4 | g.78865711A>T | CA357378715 | BMP2K | c.1222A>T (p.Arg408Ter) c.*198A>T (n.*198A>T) c.299A>T n.504A>T c.982A>T (p.Arg328Ter) c.334A>T (p.Arg112Ter) | |
| 4 | g.78865712G>A | CA357378716 | BMP2K | c.1223G>A (p.Arg408Lys) c.*199G>A (n.*199G>A) c.300G>A n.505G>A c.983G>A (p.Arg328Lys) c.335G>A (p.Arg112Lys) | |
| 4 | g.78865712G>C | CA357378717 | BMP2K | c.1223G>C (p.Arg408Thr) c.*199G>C (n.*199G>C) c.300G>C n.505G>C c.983G>C (p.Arg328Thr) c.335G>C (p.Arg112Thr) | |
| 4 | g.78865712G= | CA1470731410 | BMP2K | c.1223G= (p.Arg408=) c.*199G= (n.*199G=) c.300G= n.505G= c.983G= (p.Arg328=) c.335G= (p.Arg112=) | |
| 4 | g.78865712G>T | CA357378718 | BMP2K | c.1223G>T (p.Arg408Ile) c.*199G>T (n.*199G>T) c.300G>T n.505G>T c.983G>T (p.Arg328Ile) c.335G>T (p.Arg112Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.78865713A= | CA1470731412 | BMP2K | c.1224A= (p.Arg408=) c.*200A= (n.*200A=) c.301A= n.506A= c.984A= (p.Arg328=) c.336A= (p.Arg112=) | |
| 4 | g.78865713A>C | CA357378719 | BMP2K | c.1224A>C (p.Arg408Ser) c.*200A>C (n.*200A>C) c.301A>C n.506A>C c.984A>C (p.Arg328Ser) c.336A>C (p.Arg112Ser) | |
| 4 | g.78865713A>G | CA439976734 | BMP2K | c.1224A>G (p.Arg408=) c.*200A>G (n.*200A>G) c.301A>G n.506A>G c.984A>G (p.Arg328=) c.336A>G (p.Arg112=) | gnomAD v4 |
| 4 | g.78865713A>T | CA2980220 | BMP2K | c.1224A>T (p.Arg408Ser) c.*200A>T (n.*200A>T) c.301A>T n.506A>T c.984A>T (p.Arg328Ser) c.336A>T (p.Arg112Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |