Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.53951965A>C | CA486658686 | BMP4 | c.258T>G (p.Leu86=) c.183T>G (p.Leu61=) c.69T>G (p.Leu23=) c.399T>G (p.Leu133=) | |
14 | g.53951965A>G | CA486658688 | BMP4 | c.258T>C (p.Leu86=) c.183T>C (p.Leu61=) c.69T>C (p.Leu23=) c.399T>C (p.Leu133=) | |
14 | g.53951965A>T | CA486658687 | BMP4 | c.258T>A (p.Leu86=) c.183T>A (p.Leu61=) c.69T>A (p.Leu23=) c.399T>A (p.Leu133=) | |
14 | g.53951966A>C | CA389785239 | BMP4 | c.257T>G (p.Leu86Arg) c.182T>G (p.Leu61Arg) c.68T>G (p.Leu23Arg) c.398T>G (p.Leu133Arg) | |
14 | g.53951966A>G | CA389785240 | BMP4 | c.257T>C (p.Leu86Pro) c.182T>C (p.Leu61Pro) c.68T>C (p.Leu23Pro) c.398T>C (p.Leu133Pro) | |
14 | g.53951966A>T | CA389785241 | BMP4 | c.257T>A (p.Leu86His) c.182T>A (p.Leu61His) c.68T>A (p.Leu23His) c.398T>A (p.Leu133His) | |
14 | g.53951967G>A | CA389785242 | BMP4 | c.256C>T (p.Leu86Phe) c.181C>T (p.Leu61Phe) c.67C>T (p.Leu23Phe) c.397C>T (p.Leu133Phe) | |
14 | g.53951967G>C | CA389785243 | BMP4 | c.256C>G (p.Leu86Val) c.181C>G (p.Leu61Val) c.67C>G (p.Leu23Val) c.397C>G (p.Leu133Val) | |
14 | g.53951967G= | CA2137819192 | BMP4 | c.256C= (p.Leu86=) c.181C= (p.Leu61=) c.67C= (p.Leu23=) c.397C= (p.Leu133=) | |
14 | g.53951967G>T | CA7191803 | BMP4 | c.256C>A (p.Leu86Ile) c.181C>A (p.Leu61Ile) c.67C>A (p.Leu23Ile) c.397C>A (p.Leu133Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53951968A>C | CA389785244 | BMP4 | c.255T>G (p.Asp85Glu) c.180T>G (p.Asp60Glu) c.66T>G (p.Asp22Glu) c.396T>G (p.Asp132Glu) | |
14 | g.53951968A>G | CA486658693 | BMP4 | c.255T>C (p.Asp85=) c.180T>C (p.Asp60=) c.66T>C (p.Asp22=) c.396T>C (p.Asp132=) | gnomAD v4 |
14 | g.53951968A>T | CA389785245 | BMP4 | c.255T>A (p.Asp85Glu) c.180T>A (p.Asp60Glu) c.66T>A (p.Asp22Glu) c.396T>A (p.Asp132Glu) | |
14 | g.53951969T>A | CA389785246 | BMP4 | c.254A>T (p.Asp85Val) c.179A>T (p.Asp60Val) c.65A>T (p.Asp22Val) c.395A>T (p.Asp132Val) | dbSNP |
14 | g.53951969T>C | CA389785247 | BMP4 | c.254A>G (p.Asp85Gly) c.179A>G (p.Asp60Gly) c.65A>G (p.Asp22Gly) c.395A>G (p.Asp132Gly) | gnomAD v4 |
14 | g.53951969T>G | CA389785248 | BMP4 | c.254A>C (p.Asp85Ala) c.179A>C (p.Asp60Ala) c.65A>C (p.Asp22Ala) c.395A>C (p.Asp132Ala) | |
14 | g.53951970C>A | CA389785251 | BMP4 | c.253G>T (p.Asp85Tyr) c.178G>T (p.Asp60Tyr) c.64G>T (p.Asp22Tyr) c.394G>T (p.Asp132Tyr) | gnomAD v4 |
14 | g.53951970C>G | CA389785249 | BMP4 | c.253G>C (p.Asp85His) c.178G>C (p.Asp60His) c.64G>C (p.Asp22His) c.394G>C (p.Asp132His) | |
14 | g.53951970C>T | CA389785250 | BMP4 | c.253G>A (p.Asp85Asn) c.178G>A (p.Asp60Asn) c.64G>A (p.Asp22Asn) c.394G>A (p.Asp132Asn) | |
14 | g.53951971C>A | CA486658696 | BMP4 | c.252G>T (p.Arg84=) c.177G>T (p.Arg59=) c.63G>T (p.Arg21=) c.393G>T (p.Arg131=) | gnomAD v4 |
14 | g.53951971C= | CA2137819197 | BMP4 | c.252G= (p.Arg84=) c.177G= (p.Arg59=) c.63G= (p.Arg21=) c.393G= (p.Arg131=) | |
14 | g.53951971C>G | CA486658698 | BMP4 | c.252G>C (p.Arg84=) c.177G>C (p.Arg59=) c.63G>C (p.Arg21=) c.393G>C (p.Arg131=) | |
14 | g.53951971C>T | CA7191804 | BMP4 | c.252G>A (p.Arg84=) c.177G>A (p.Arg59=) c.63G>A (p.Arg21=) c.393G>A (p.Arg131=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53951972C>A | CA389785252 | BMP4 | c.251G>T (p.Arg84Leu) c.176G>T (p.Arg59Leu) c.62G>T (p.Arg21Leu) c.392G>T (p.Arg131Leu) | COSMIC |
14 | g.53951972C>G | CA389785253 | BMP4 | c.251G>C (p.Arg84Pro) c.176G>C (p.Arg59Pro) c.62G>C (p.Arg21Pro) c.392G>C (p.Arg131Pro) | |
14 | g.53951972C>T | CA389785254 | BMP4 | c.251G>A (p.Arg84Gln) c.176G>A (p.Arg59Gln) c.62G>A (p.Arg21Gln) c.392G>A (p.Arg131Gln) | ClinVar |
14 | g.53951973G>A | CA389785255 | BMP4 | c.250C>T (p.Arg84Trp) c.175C>T (p.Arg59Trp) c.61C>T (p.Arg21Trp) c.391C>T (p.Arg131Trp) | ClinVar dbSNP gnomAD v4 |
14 | g.53951973G>C | CA389785256 | BMP4 | c.250C>G (p.Arg84Gly) c.175C>G (p.Arg59Gly) c.61C>G (p.Arg21Gly) c.391C>G (p.Arg131Gly) | |
14 | g.53951973G= | CA2137819203 | BMP4 | c.250C= (p.Arg84=) c.175C= (p.Arg59=) c.61C= (p.Arg21=) c.391C= (p.Arg131=) | |
14 | g.53951973G>T | CA486658700 | BMP4 | c.250C>A (p.Arg84=) c.175C>A (p.Arg59=) c.61C>A (p.Arg21=) c.391C>A (p.Arg131=) | dbSNP gnomAD v4 |
14 | g.53951974C>A | CA389785258 | BMP4 | c.249G>T (p.Met83Ile) c.174G>T (p.Met58Ile) c.60G>T (p.Met20Ile) c.390G>T (p.Met130Ile) | |
14 | g.53951974C>G | CA389785259 | BMP4 | c.249G>C (p.Met83Ile) c.174G>C (p.Met58Ile) c.60G>C (p.Met20Ile) c.390G>C (p.Met130Ile) | |
14 | g.53951974C>T | CA389785257 | BMP4 | c.249G>A (p.Met83Ile) c.174G>A (p.Met58Ile) c.60G>A (p.Met20Ile) c.390G>A (p.Met130Ile) | |
14 | g.53951974_53951991dup | CA614278115 | BMP4 | c.232_249dup (p.Met83_Arg84insValIleProAspTyrMet) c.157_174dup (p.Met58_Arg59insValIleProAspTyrMet) c.43_60dup (p.Met20_Arg21insValIleProAspTyrMet) c.373_390dup (p.Met130_Arg131insValIleProAspTyrMet) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53951975A>C | CA389785260 | BMP4 | c.248T>G (p.Met83Arg) c.173T>G (p.Met58Arg) c.59T>G (p.Met20Arg) c.389T>G (p.Met130Arg) | |
14 | g.53951975A>G | CA389785261 | BMP4 | c.248T>C (p.Met83Thr) c.173T>C (p.Met58Thr) c.59T>C (p.Met20Thr) c.389T>C (p.Met130Thr) | |
14 | g.53951975A>T | CA389785262 | BMP4 | c.248T>A (p.Met83Lys) c.173T>A (p.Met58Lys) c.59T>A (p.Met20Lys) c.389T>A (p.Met130Lys) | |
14 | g.53951976T>A | CA389785263 | BMP4 | c.247A>T (p.Met83Leu) c.172A>T (p.Met58Leu) c.58A>T (p.Met20Leu) c.388A>T (p.Met130Leu) | |
14 | g.53951976T>C | CA389785264 | BMP4 | c.247A>G (p.Met83Val) c.172A>G (p.Met58Val) c.58A>G (p.Met20Val) c.388A>G (p.Met130Val) | gnomAD v4 |
14 | g.53951976T>G | CA389785265 | BMP4 | c.247A>C (p.Met83Leu) c.172A>C (p.Met58Leu) c.58A>C (p.Met20Leu) c.388A>C (p.Met130Leu) | dbSNP gnomAD v4 |
14 | g.53951976T= | CA2137819209 | BMP4 | c.247A= (p.Met83=) c.172A= (p.Met58=) c.58A= (p.Met20=) c.388A= (p.Met130=) | |
14 | g.53951977G>A | CA486658701 | BMP4 | c.246C>T (p.Tyr82=) c.171C>T (p.Tyr57=) c.57C>T (p.Tyr19=) c.387C>T (p.Tyr129=) | |
14 | g.53951977G>C | CA389785266 | BMP4 | c.246C>G (p.Tyr82Ter) c.171C>G (p.Tyr57Ter) c.57C>G (p.Tyr19Ter) c.387C>G (p.Tyr129Ter) | |
14 | g.53951977G>T | CA389785267 | BMP4 | c.246C>A (p.Tyr82Ter) c.171C>A (p.Tyr57Ter) c.57C>A (p.Tyr19Ter) c.387C>A (p.Tyr129Ter) | |
14 | g.53951978T>A | CA389785268 | BMP4 | c.245A>T (p.Tyr82Phe) c.170A>T (p.Tyr57Phe) c.56A>T (p.Tyr19Phe) c.386A>T (p.Tyr129Phe) | |
14 | g.53951978T>C | CA389785269 | BMP4 | c.245A>G (p.Tyr82Cys) c.170A>G (p.Tyr57Cys) c.56A>G (p.Tyr19Cys) c.386A>G (p.Tyr129Cys) | |
14 | g.53951978T>G | CA389785270 | BMP4 | c.245A>C (p.Tyr82Ser) c.170A>C (p.Tyr57Ser) c.56A>C (p.Tyr19Ser) c.386A>C (p.Tyr129Ser) | |
14 | g.53951979A= | CA2137819213 | BMP4 | c.244T= (p.Tyr82=) c.169T= (p.Tyr57=) c.55T= (p.Tyr19=) c.385T= (p.Tyr129=) | |
14 | g.53951979A>C | CA389785271 | BMP4 | c.244T>G (p.Tyr82Asp) c.169T>G (p.Tyr57Asp) c.55T>G (p.Tyr19Asp) c.385T>G (p.Tyr129Asp) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.53951979A>G | CA389785272 | BMP4 | c.244T>C (p.Tyr82His) c.169T>C (p.Tyr57His) c.55T>C (p.Tyr19His) c.385T>C (p.Tyr129His) | dbSNP gnomAD v2 |
14 | g.53951979A>T | CA389785273 | BMP4 | c.244T>A (p.Tyr82Asn) c.169T>A (p.Tyr57Asn) c.55T>A (p.Tyr19Asn) c.385T>A (p.Tyr129Asn) | |
14 | g.53951980G>A | CA486658704 | BMP4 | c.243C>T (p.Asp81=) c.168C>T (p.Asp56=) c.54C>T (p.Asp18=) c.384C>T (p.Asp128=) | |
14 | g.53951980G>C | CA389785275 | BMP4 | c.243C>G (p.Asp81Glu) c.168C>G (p.Asp56Glu) c.54C>G (p.Asp18Glu) c.384C>G (p.Asp128Glu) | |
14 | g.53951980G>T | CA389785274 | BMP4 | c.243C>A (p.Asp81Glu) c.168C>A (p.Asp56Glu) c.54C>A (p.Asp18Glu) c.384C>A (p.Asp128Glu) | |
14 | g.53951981T>A | CA389785276 | BMP4 | c.242A>T (p.Asp81Val) c.167A>T (p.Asp56Val) c.53A>T (p.Asp18Val) c.383A>T (p.Asp128Val) | |
14 | g.53951981T>C | CA389785277 | BMP4 | c.242A>G (p.Asp81Gly) c.167A>G (p.Asp56Gly) c.53A>G (p.Asp18Gly) c.383A>G (p.Asp128Gly) | |
14 | g.53951981T>G | CA389785278 | BMP4 | c.242A>C (p.Asp81Ala) c.167A>C (p.Asp56Ala) c.53A>C (p.Asp18Ala) c.383A>C (p.Asp128Ala) | |
14 | g.53951982C>A | CA389785279 | BMP4 | c.241G>T (p.Asp81Tyr) c.166G>T (p.Asp56Tyr) c.52G>T (p.Asp18Tyr) c.382G>T (p.Asp128Tyr) | gnomAD v4 |
14 | g.53951982C>G | CA389785280 | BMP4 | c.241G>C (p.Asp81His) c.166G>C (p.Asp56His) c.52G>C (p.Asp18His) c.382G>C (p.Asp128His) | |
14 | g.53951982C>T | CA389785281 | BMP4 | c.241G>A (p.Asp81Asn) c.166G>A (p.Asp56Asn) c.52G>A (p.Asp18Asn) c.382G>A (p.Asp128Asn) | |
14 | g.53951983C>A | CA486658706 | BMP4 | c.240G>T (p.Pro80=) c.165G>T (p.Pro55=) c.51G>T (p.Pro17=) c.381G>T (p.Pro127=) | ClinVar dbSNP gnomAD v4 |
14 | g.53951983C= | CA2137819218 | BMP4 | c.240G= (p.Pro80=) c.165G= (p.Pro55=) c.51G= (p.Pro17=) c.381G= (p.Pro127=) | |
14 | g.53951983C>G | CA486658708 | BMP4 | c.240G>C (p.Pro80=) c.165G>C (p.Pro55=) c.51G>C (p.Pro17=) c.381G>C (p.Pro127=) | |
14 | g.53951983C>T | CA7191805 | BMP4 | c.240G>A (p.Pro80=) c.165G>A (p.Pro55=) c.51G>A (p.Pro17=) c.381G>A (p.Pro127=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53951984G>A | CA261472783 | BMP4 | c.239C>T (p.Pro80Leu) c.164C>T (p.Pro55Leu) c.50C>T (p.Pro17Leu) c.380C>T (p.Pro127Leu) | dbSNP |
14 | g.53951984G>C | CA389785283 | BMP4 | c.239C>G (p.Pro80Arg) c.164C>G (p.Pro55Arg) c.50C>G (p.Pro17Arg) c.380C>G (p.Pro127Arg) | |
14 | g.53951984G= | CA2137819222 | BMP4 | c.239C= (p.Pro80=) c.164C= (p.Pro55=) c.50C= (p.Pro17=) c.380C= (p.Pro127=) | |
14 | g.53951984G>T | CA389785282 | BMP4 | c.239C>A (p.Pro80Gln) c.164C>A (p.Pro55Gln) c.50C>A (p.Pro17Gln) c.380C>A (p.Pro127Gln) | |
14 | g.53951985G>A | CA389785284 | BMP4 | c.238C>T (p.Pro80Ser) c.163C>T (p.Pro55Ser) c.49C>T (p.Pro17Ser) c.379C>T (p.Pro127Ser) | |
14 | g.53951985G>C | CA389785285 | BMP4 | c.238C>G (p.Pro80Ala) c.163C>G (p.Pro55Ala) c.49C>G (p.Pro17Ala) c.379C>G (p.Pro127Ala) | |
14 | g.53951985G>T | CA389785286 | BMP4 | c.238C>A (p.Pro80Thr) c.163C>A (p.Pro55Thr) c.49C>A (p.Pro17Thr) c.379C>A (p.Pro127Thr) | |
14 | g.53951986A>C | CA389785287 | BMP4 | c.237T>G (p.Ile79Met) c.162T>G (p.Ile54Met) c.48T>G (p.Ile16Met) c.378T>G (p.Ile126Met) | |
14 | g.53951986A>G | CA486658712 | BMP4 | c.237T>C (p.Ile79=) c.162T>C (p.Ile54=) c.48T>C (p.Ile16=) c.378T>C (p.Ile126=) | gnomAD v4 |
14 | g.53951986A>T | CA486658711 | BMP4 | c.237T>A (p.Ile79=) c.162T>A (p.Ile54=) c.48T>A (p.Ile16=) c.378T>A (p.Ile126=) | gnomAD v4 |
14 | g.53951987A>C | CA389785288 | BMP4 | c.236T>G (p.Ile79Ser) c.161T>G (p.Ile54Ser) c.47T>G (p.Ile16Ser) c.377T>G (p.Ile126Ser) | |
14 | g.53951987A>G | CA389785290 | BMP4 | c.236T>C (p.Ile79Thr) c.161T>C (p.Ile54Thr) c.47T>C (p.Ile16Thr) c.377T>C (p.Ile126Thr) | |
14 | g.53951987A>T | CA389785289 | BMP4 | c.236T>A (p.Ile79Asn) c.161T>A (p.Ile54Asn) c.47T>A (p.Ile16Asn) c.377T>A (p.Ile126Asn) | |
14 | g.53951988T>A | CA389785291 | BMP4 | c.235A>T (p.Ile79Phe) c.160A>T (p.Ile54Phe) c.46A>T (p.Ile16Phe) c.376A>T (p.Ile126Phe) | |
14 | g.53951988T>C | CA389785292 | BMP4 | c.235A>G (p.Ile79Val) c.160A>G (p.Ile54Val) c.46A>G (p.Ile16Val) c.376A>G (p.Ile126Val) | dbSNP |
14 | g.53951988T>G | CA389785293 | BMP4 | c.235A>C (p.Ile79Leu) c.160A>C (p.Ile54Leu) c.46A>C (p.Ile16Leu) c.376A>C (p.Ile126Leu) | |
14 | g.53951988T= | CA2137819225 | BMP4 | c.235A= (p.Ile79=) c.160A= (p.Ile54=) c.46A= (p.Ile16=) c.376A= (p.Ile126=) | |
14 | g.53951989G>A | CA486658719 | BMP4 | c.234C>T (p.Val78=) c.159C>T (p.Val53=) c.45C>T (p.Val15=) c.375C>T (p.Val125=) | |
14 | g.53951989G>C | CA486658720 | BMP4 | c.234C>G (p.Val78=) c.159C>G (p.Val53=) c.45C>G (p.Val15=) c.375C>G (p.Val125=) | |
14 | g.53951989G>T | CA486658721 | BMP4 | c.234C>A (p.Val78=) c.159C>A (p.Val53=) c.45C>A (p.Val15=) c.375C>A (p.Val125=) | |
14 | g.53951990A>C | CA389785294 | BMP4 | c.233T>G (p.Val78Gly) c.158T>G (p.Val53Gly) c.44T>G (p.Val15Gly) c.374T>G (p.Val125Gly) | |
14 | g.53951990A>G | CA389785295 | BMP4 | c.233T>C (p.Val78Ala) c.158T>C (p.Val53Ala) c.44T>C (p.Val15Ala) c.374T>C (p.Val125Ala) | gnomAD v4 |
14 | g.53951990A>T | CA389785296 | BMP4 | c.233T>A (p.Val78Asp) c.158T>A (p.Val53Asp) c.44T>A (p.Val15Asp) c.374T>A (p.Val125Asp) | |
14 | g.53951991C>A | CA389785297 | BMP4 | c.232G>T (p.Val78Phe) c.157G>T (p.Val53Phe) c.43G>T (p.Val15Phe) c.373G>T (p.Val125Phe) | |
14 | g.53951991C>G | CA389785298 | BMP4 | c.232G>C (p.Val78Leu) c.157G>C (p.Val53Leu) c.43G>C (p.Val15Leu) c.373G>C (p.Val125Leu) | gnomAD v3 gnomAD v4 |
14 | g.53951991C>T | CA389785299 | BMP4 | c.232G>A (p.Val78Ile) c.157G>A (p.Val53Ile) c.43G>A (p.Val15Ile) c.373G>A (p.Val125Ile) | dbSNP gnomAD v4 COSMIC |
14 | g.53951992G>A | CA486658724 | BMP4 | c.231C>T (p.Ala77=) c.156C>T (p.Ala52=) c.42C>T (p.Ala14=) c.372C>T (p.Ala124=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53951992G>C | CA486658727 | BMP4 | c.231C>G (p.Ala77=) c.156C>G (p.Ala52=) c.42C>G (p.Ala14=) c.372C>G (p.Ala124=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.53951992G= | CA2137819227 | BMP4 | c.231C= (p.Ala77=) c.156C= (p.Ala52=) c.42C= (p.Ala14=) c.372C= (p.Ala124=) | |
14 | g.53951992G>T | CA486658725 | BMP4 | c.231C>A (p.Ala77=) c.156C>A (p.Ala52=) c.42C>A (p.Ala14=) c.372C>A (p.Ala124=) | dbSNP |
14 | g.53951993G>A | CA389785300 | BMP4 | c.230C>T (p.Ala77Val) c.155C>T (p.Ala52Val) c.41C>T (p.Ala14Val) c.371C>T (p.Ala124Val) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.53951993G>C | CA389785301 | BMP4 | c.230C>G (p.Ala77Gly) c.155C>G (p.Ala52Gly) c.41C>G (p.Ala14Gly) c.371C>G (p.Ala124Gly) | |
14 | g.53951993G= | CA2137819228 | BMP4 | c.230C= (p.Ala77=) c.155C= (p.Ala52=) c.41C= (p.Ala14=) c.371C= (p.Ala124=) | |
14 | g.53951993G>T | CA389785302 | BMP4 | c.230C>A (p.Ala77Asp) c.155C>A (p.Ala52Asp) c.41C>A (p.Ala14Asp) c.371C>A (p.Ala124Asp) | |
14 | g.53951994C>A | CA389785305 | BMP4 | c.229G>T (p.Ala77Ser) c.154G>T (p.Ala52Ser) c.40G>T (p.Ala14Ser) c.370G>T (p.Ala124Ser) | |
14 | g.53951994C>G | CA389785304 | BMP4 | c.229G>C (p.Ala77Pro) c.154G>C (p.Ala52Pro) c.40G>C (p.Ala14Pro) c.370G>C (p.Ala124Pro) | |
14 | g.53951994C>T | CA389785303 | BMP4 | c.229G>A (p.Ala77Thr) c.154G>A (p.Ala52Thr) c.40G>A (p.Ala14Thr) c.370G>A (p.Ala124Thr) | gnomAD v4 |
14 | g.53951995A= | CA2137819232 | BMP4 | c.228T= (p.Ser76=) c.153T= (p.Ser51=) c.39T= (p.Ser13=) c.369T= (p.Ser123=) | |
14 | g.53951995A>C | CA389785306 | BMP4 | c.228T>G (p.Ser76Arg) c.153T>G (p.Ser51Arg) c.39T>G (p.Ser13Arg) c.369T>G (p.Ser123Arg) | |
14 | g.53951995A>G | CA486658731 | BMP4 | c.228T>C (p.Ser76=) c.153T>C (p.Ser51=) c.39T>C (p.Ser13=) c.369T>C (p.Ser123=) | |
14 | g.53951995A>T | CA7191806 | BMP4 | c.228T>A (p.Ser76Arg) c.153T>A (p.Ser51Arg) c.39T>A (p.Ser13Arg) c.369T>A (p.Ser123Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53951996C>A | CA389785307 | BMP4 | c.227G>T (p.Ser76Ile) c.152G>T (p.Ser51Ile) c.38G>T (p.Ser13Ile) c.368G>T (p.Ser123Ile) | gnomAD v4 |
14 | g.53951996C= | CA2137819240 | BMP4 | c.227G= (p.Ser76=) c.152G= (p.Ser51=) c.38G= (p.Ser13=) c.368G= (p.Ser123=) | |
14 | g.53951996C>G | CA389785308 | BMP4 | c.227G>C (p.Ser76Thr) c.152G>C (p.Ser51Thr) c.38G>C (p.Ser13Thr) c.368G>C (p.Ser123Thr) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.53951996C>T | CA389785309 | BMP4 | c.227G>A (p.Ser76Asn) c.152G>A (p.Ser51Asn) c.38G>A (p.Ser13Asn) c.368G>A (p.Ser123Asn) | gnomAD v4 |
14 | g.53951998_53951999del | CA2580613688 | BMP4 | c.226_227del (p.Ser76CysfsTer29) c.151_152del (p.Ser51CysfsTer29) c.37_38del (p.Ser13CysfsTer29) c.367_368del (p.Ser123CysfsTer29) | ClinVar dbSNP |
14 | g.53951997T>A | CA389785310 | BMP4 | c.226A>T (p.Ser76Cys) c.151A>T (p.Ser51Cys) c.37A>T (p.Ser13Cys) c.367A>T (p.Ser123Cys) | |
14 | g.53951997T>C | CA389785311 | BMP4 | c.226A>G (p.Ser76Gly) c.151A>G (p.Ser51Gly) c.37A>G (p.Ser13Gly) c.367A>G (p.Ser123Gly) | gnomAD v4 |
14 | g.53951997T>G | CA389785312 | BMP4 | c.226A>C (p.Ser76Arg) c.151A>C (p.Ser51Arg) c.37A>C (p.Ser13Arg) c.367A>C (p.Ser123Arg) | |
14 | g.53951998C>A | CA389785313 | BMP4 | c.225G>T (p.Lys75Asn) c.150G>T (p.Lys50Asn) c.36G>T (p.Lys12Asn) c.366G>T (p.Lys122Asn) | |
14 | g.53951998C= | CA2137819243 | BMP4 | c.225G= (p.Lys75=) c.150G= (p.Lys50=) c.36G= (p.Lys12=) c.366G= (p.Lys122=) | |
14 | g.53951998C>G | CA389785314 | BMP4 | c.225G>C (p.Lys75Asn) c.150G>C (p.Lys50Asn) c.36G>C (p.Lys12Asn) c.366G>C (p.Lys122Asn) | |
14 | g.53951998C>T | CA486658738 | BMP4 | c.225G>A (p.Lys75=) c.150G>A (p.Lys50=) c.36G>A (p.Lys12=) c.366G>A (p.Lys122=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.53951999T>A | CA389785315 | BMP4 | c.224A>T (p.Lys75Met) c.149A>T (p.Lys50Met) c.35A>T (p.Lys12Met) c.365A>T (p.Lys122Met) | |
14 | g.53951999T>C | CA7191807 | BMP4 | c.224A>G (p.Lys75Arg) c.149A>G (p.Lys50Arg) c.35A>G (p.Lys12Arg) c.365A>G (p.Lys122Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53951999T>G | CA389785316 | BMP4 | c.224A>C (p.Lys75Thr) c.149A>C (p.Lys50Thr) c.35A>C (p.Lys12Thr) c.365A>C (p.Lys122Thr) | |
14 | g.53951999T= | CA2137819247 | BMP4 | c.224A= (p.Lys75=) c.149A= (p.Lys50=) c.35A= (p.Lys12=) c.365A= (p.Lys122=) | |
14 | g.53952000T>A | CA389785319 | BMP4 | c.223A>T (p.Lys75Ter) c.148A>T (p.Lys50Ter) c.34A>T (p.Lys12Ter) c.364A>T (p.Lys122Ter) | |
14 | g.53952000T>C | CA389785318 | BMP4 | c.223A>G (p.Lys75Glu) c.148A>G (p.Lys50Glu) c.34A>G (p.Lys12Glu) c.364A>G (p.Lys122Glu) | gnomAD v4 |
14 | g.53952000T>G | CA389785317 | BMP4 | c.223A>C (p.Lys75Gln) c.148A>C (p.Lys50Gln) c.34A>C (p.Lys12Gln) c.364A>C (p.Lys122Gln) | |
14 | g.53952001G>A | CA486658746 | BMP4 | c.222C>T (p.Ser74=) c.147C>T (p.Ser49=) c.33C>T (p.Ser11=) c.363C>T (p.Ser121=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.53952001G>C | CA389785321 | BMP4 | c.222C>G (p.Ser74Arg) c.147C>G (p.Ser49Arg) c.33C>G (p.Ser11Arg) c.363C>G (p.Ser121Arg) | |
14 | g.53952001G= | CA2137819253 | BMP4 | c.222C= (p.Ser74=) c.147C= (p.Ser49=) c.33C= (p.Ser11=) c.363C= (p.Ser121=) | |
14 | g.53952001G>T | CA389785320 | BMP4 | c.222C>A (p.Ser74Arg) c.147C>A (p.Ser49Arg) c.33C>A (p.Ser11Arg) c.363C>A (p.Ser121Arg) | |
14 | g.53952002C>A | CA389785322 | BMP4 | c.221G>T (p.Ser74Ile) c.146G>T (p.Ser49Ile) c.32G>T (p.Ser11Ile) c.362G>T (p.Ser121Ile) | |
14 | g.53952002C= | CA2137819257 | BMP4 | c.221G= (p.Ser74=) c.146G= (p.Ser49=) c.32G= (p.Ser11=) c.362G= (p.Ser121=) | |
14 | g.53952002C>G | CA389785323 | BMP4 | c.221G>C (p.Ser74Thr) c.146G>C (p.Ser49Thr) c.32G>C (p.Ser11Thr) c.362G>C (p.Ser121Thr) | dbSNP |
14 | g.53952002C>T | CA389785324 | BMP4 | c.221G>A (p.Ser74Asn) c.146G>A (p.Ser49Asn) c.32G>A (p.Ser11Asn) c.362G>A (p.Ser121Asn) | COSMIC |
14 | g.53952003T>A | CA389785325 | BMP4 | c.220A>T (p.Ser74Cys) c.145A>T (p.Ser49Cys) c.31A>T (p.Ser11Cys) c.361A>T (p.Ser121Cys) | |
14 | g.53952003T>C | CA261472784 | BMP4 | c.220A>G (p.Ser74Gly) c.145A>G (p.Ser49Gly) c.31A>G (p.Ser11Gly) c.361A>G (p.Ser121Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.53952003T>G | CA389785326 | BMP4 | c.220A>C (p.Ser74Arg) c.145A>C (p.Ser49Arg) c.31A>C (p.Ser11Arg) c.361A>C (p.Ser121Arg) | |
14 | g.53952003T= | CA2137819264 | BMP4 | c.220A= (p.Ser74=) c.145A= (p.Ser49=) c.31A= (p.Ser11=) c.361A= (p.Ser121=) | |
14 | g.53952004A= | CA2137819267 | BMP4 | c.219T= (p.Pro73=) c.144T= (p.Pro48=) c.30T= (p.Pro10=) c.360T= (p.Pro120=) | |
14 | g.53952004A>C | CA486658749 | BMP4 | c.219T>G (p.Pro73=) c.144T>G (p.Pro48=) c.30T>G (p.Pro10=) c.360T>G (p.Pro120=) | |
14 | g.53952004A>G | CA7191808 | BMP4 | c.219T>C (p.Pro73=) c.144T>C (p.Pro48=) c.30T>C (p.Pro10=) c.360T>C (p.Pro120=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.53952004A>T | CA486658751 | BMP4 | c.219T>A (p.Pro73=) c.144T>A (p.Pro48=) c.30T>A (p.Pro10=) c.360T>A (p.Pro120=) | |
14 | g.53952005G>A | CA389785327 | BMP4 | c.218C>T (p.Pro73Leu) c.143C>T (p.Pro48Leu) c.29C>T (p.Pro10Leu) c.359C>T (p.Pro120Leu) | COSMIC |
14 | g.53952005G>C | CA389785328 | BMP4 | c.218C>G (p.Pro73Arg) c.143C>G (p.Pro48Arg) c.29C>G (p.Pro10Arg) c.359C>G (p.Pro120Arg) | |
14 | g.53952005G= | CA2137819269 | BMP4 | c.218C= (p.Pro73=) c.143C= (p.Pro48=) c.29C= (p.Pro10=) c.359C= (p.Pro120=) | |
14 | g.53952005G>T | CA389785329 | BMP4 | c.218C>A (p.Pro73His) c.143C>A (p.Pro48His) c.29C>A (p.Pro10His) c.359C>A (p.Pro120His) | COSMIC |
14 | g.53952006G>A | CA389785330 | BMP4 | c.217C>T (p.Pro73Ser) c.142C>T (p.Pro48Ser) c.28C>T (p.Pro10Ser) c.358C>T (p.Pro120Ser) | |
14 | g.53952006G>C | CA389785331 | BMP4 | c.217C>G (p.Pro73Ala) c.142C>G (p.Pro48Ala) c.28C>G (p.Pro10Ala) c.358C>G (p.Pro120Ala) | |
14 | g.53952006G>T | CA389785332 | BMP4 | c.217C>A (p.Pro73Thr) c.142C>A (p.Pro48Thr) c.28C>A (p.Pro10Thr) c.358C>A (p.Pro120Thr) | |
14 | g.53952008_53952010dup | CA614278116 | BMP4 | c.215_217dup (p.Gln72_Pro73insGln) c.140_142dup (p.Gln47_Pro48insGln) c.26_28dup (p.Gln9_Pro10insGln) c.356_358dup (p.Gln119_Pro120insGln) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.53952007C>A | CA389785334 | BMP4 | c.216G>T (p.Gln72His) c.141G>T (p.Gln47His) c.27G>T (p.Gln9His) c.357G>T (p.Gln119His) | |
14 | g.53952007C>G | CA389785333 | BMP4 | c.216G>C (p.Gln72His) c.141G>C (p.Gln47His) c.27G>C (p.Gln9His) c.357G>C (p.Gln119His) | |
14 | g.53952007C>T | CA486658757 | BMP4 | c.216G>A (p.Gln72=) c.141G>A (p.Gln47=) c.27G>A (p.Gln9=) c.357G>A (p.Gln119=) | gnomAD v4 |
14 | g.53952008T>A | CA389785335 | BMP4 | c.215A>T (p.Gln72Leu) c.140A>T (p.Gln47Leu) c.26A>T (p.Gln9Leu) c.356A>T (p.Gln119Leu) | gnomAD v4 |
14 | g.53952008T>C | CA7191809 | BMP4 | c.215A>G (p.Gln72Arg) c.140A>G (p.Gln47Arg) c.26A>G (p.Gln9Arg) c.356A>G (p.Gln119Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53952008T>G | CA389785336 | BMP4 | c.215A>C (p.Gln72Pro) c.140A>C (p.Gln47Pro) c.26A>C (p.Gln9Pro) c.356A>C (p.Gln119Pro) | |
14 | g.53952008T= | CA2137819274 | BMP4 | c.215A= (p.Gln72=) c.140A= (p.Gln47=) c.26A= (p.Gln9=) c.356A= (p.Gln119=) | |
14 | g.53952009G>A | CA389785337 | BMP4 | c.214C>T (p.Gln72Ter) c.139C>T (p.Gln47Ter) c.25C>T (p.Gln9Ter) c.355C>T (p.Gln119Ter) | |
14 | g.53952009G>C | CA389785338 | BMP4 | c.214C>G (p.Gln72Glu) c.139C>G (p.Gln47Glu) c.25C>G (p.Gln9Glu) c.355C>G (p.Gln119Glu) | gnomAD v4 |
14 | g.53952009G>T | CA389785339 | BMP4 | c.214C>A (p.Gln72Lys) c.139C>A (p.Gln47Lys) c.25C>A (p.Gln9Lys) c.355C>A (p.Gln119Lys) | |
14 | g.53952012_53952021del | CA2573149957 | BMP4 | c.205_214del (p.Arg69SerfsTer?) c.130_139del (p.Arg44SerfsTer?) c.16_25del (p.Arg6SerfsTer?) c.346_355del (p.Arg116SerfsTer?) | ClinVar dbSNP |
14 | g.53952010C>A | CA7191810 | BMP4 | c.213G>T (p.Pro71=) c.138G>T (p.Pro46=) c.24G>T (p.Pro8=) c.354G>T (p.Pro118=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53952010C= | CA2137819284 | BMP4 | c.213G= (p.Pro71=) c.138G= (p.Pro46=) c.24G= (p.Pro8=) c.354G= (p.Pro118=) | |
14 | g.53952010C>G | CA7191811 | BMP4 | c.213G>C (p.Pro71=) c.138G>C (p.Pro46=) c.24G>C (p.Pro8=) c.354G>C (p.Pro118=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53952010C>T | CA486658760 | BMP4 | c.213G>A (p.Pro71=) c.138G>A (p.Pro46=) c.24G>A (p.Pro8=) c.354G>A (p.Pro118=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.53952011G>A | CA389785340 | BMP4 | c.212C>T (p.Pro71Leu) c.137C>T (p.Pro46Leu) c.23C>T (p.Pro8Leu) c.353C>T (p.Pro118Leu) | gnomAD v4 |
14 | g.53952011G>C | CA7191812 | BMP4 | c.212C>G (p.Pro71Arg) c.137C>G (p.Pro46Arg) c.23C>G (p.Pro8Arg) c.353C>G (p.Pro118Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.53952011G= | CA2137819289 | BMP4 | c.212C= (p.Pro71=) c.137C= (p.Pro46=) c.23C= (p.Pro8=) c.353C= (p.Pro118=) | |
14 | g.53952011G>T | CA389785341 | BMP4 | c.212C>A (p.Pro71Gln) c.137C>A (p.Pro46Gln) c.23C>A (p.Pro8Gln) c.353C>A (p.Pro118Gln) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.53952012G>A | CA389785342 | BMP4 | c.211C>T (p.Pro71Ser) c.136C>T (p.Pro46Ser) c.22C>T (p.Pro8Ser) c.352C>T (p.Pro118Ser) | |
14 | g.53952012G>C | CA389785343 | BMP4 | c.211C>G (p.Pro71Ala) c.136C>G (p.Pro46Ala) c.22C>G (p.Pro8Ala) c.352C>G (p.Pro118Ala) | |
14 | g.53952012G>T | CA389785344 | BMP4 | c.211C>A (p.Pro71Thr) c.136C>A (p.Pro46Thr) c.22C>A (p.Pro8Thr) c.352C>A (p.Pro118Thr) | |
14 | g.53952013G>A | CA486658762 | BMP4 | c.210C>T (p.Arg70=) c.135C>T (p.Arg45=) c.21C>T (p.Arg7=) c.351C>T (p.Arg117=) | |
14 | g.53952013G>C | CA486658763 | BMP4 | c.210C>G (p.Arg70=) c.135C>G (p.Arg45=) c.21C>G (p.Arg7=) c.351C>G (p.Arg117=) | |
14 | g.53952013G>T | CA486658764 | BMP4 | c.210C>A (p.Arg70=) c.135C>A (p.Arg45=) c.21C>A (p.Arg7=) c.351C>A (p.Arg117=) | |
14 | g.53952014C>A | CA389785346 | BMP4 | c.209G>T (p.Arg70Leu) c.134G>T (p.Arg45Leu) c.20G>T (p.Arg7Leu) c.350G>T (p.Arg117Leu) | COSMIC |
14 | g.53952014C= | CA2137819293 | BMP4 | c.209G= (p.Arg70=) c.134G= (p.Arg45=) c.20G= (p.Arg7=) c.350G= (p.Arg117=) | |
14 | g.53952014C>G | CA389785345 | BMP4 | c.209G>C (p.Arg70Pro) c.134G>C (p.Arg45Pro) c.20G>C (p.Arg7Pro) c.350G>C (p.Arg117Pro) | |
14 | g.53952014C>T | CA7191813 | BMP4 | c.209G>A (p.Arg70His) c.134G>A (p.Arg45His) c.20G>A (p.Arg7His) c.350G>A (p.Arg117His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.53952015G>A | CA389785347 | BMP4 | c.208C>T (p.Arg70Cys) c.133C>T (p.Arg45Cys) c.19C>T (p.Arg7Cys) c.349C>T (p.Arg117Cys) | dbSNP gnomAD v4 COSMIC |
14 | g.53952015G>C | CA389785348 | BMP4 | c.208C>G (p.Arg70Gly) c.133C>G (p.Arg45Gly) c.19C>G (p.Arg7Gly) c.349C>G (p.Arg117Gly) | |
14 | g.53952015G= | CA2137819296 | BMP4 | c.208C= (p.Arg70=) c.133C= (p.Arg45=) c.19C= (p.Arg7=) c.349C= (p.Arg117=) | |
14 | g.53952015G>T | CA389785349 | BMP4 | c.208C>A (p.Arg70Ser) c.133C>A (p.Arg45Ser) c.19C>A (p.Arg7Ser) c.349C>A (p.Arg117Ser) | |
14 | g.53952016G>A | CA486658769 | BMP4 | c.207C>T (p.Arg69=) c.132C>T (p.Arg44=) c.18C>T (p.Arg6=) c.348C>T (p.Arg116=) | |
14 | g.53952016G>C | CA486658770 | BMP4 | c.207C>G (p.Arg69=) c.132C>G (p.Arg44=) c.18C>G (p.Arg6=) c.348C>G (p.Arg116=) | |
14 | g.53952016G>T | CA486658771 | BMP4 | c.207C>A (p.Arg69=) c.132C>A (p.Arg44=) c.18C>A (p.Arg6=) c.348C>A (p.Arg116=) | |
14 | g.53952017C>A | CA389785350 | BMP4 | c.206G>T (p.Arg69Leu) c.131G>T (p.Arg44Leu) c.17G>T (p.Arg6Leu) c.347G>T (p.Arg116Leu) | |
14 | g.53952017C= | CA2137819299 | BMP4 | c.206G= (p.Arg69=) c.131G= (p.Arg44=) c.17G= (p.Arg6=) c.347G= (p.Arg116=) | |
14 | g.53952017C>G | CA389785351 | BMP4 | c.206G>C (p.Arg69Pro) c.131G>C (p.Arg44Pro) c.17G>C (p.Arg6Pro) c.347G>C (p.Arg116Pro) | |
14 | g.53952017C>T | CA389785352 | BMP4 | c.206G>A (p.Arg69His) c.131G>A (p.Arg44His) c.17G>A (p.Arg6His) c.347G>A (p.Arg116His) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.53952018G>A | CA389785353 | BMP4 | c.205C>T (p.Arg69Cys) c.130C>T (p.Arg44Cys) c.16C>T (p.Arg6Cys) c.346C>T (p.Arg116Cys) | gnomAD v4 |
14 | g.53952018G>C | CA389785354 | BMP4 | c.205C>G (p.Arg69Gly) c.130C>G (p.Arg44Gly) c.16C>G (p.Arg6Gly) c.346C>G (p.Arg116Gly) | |
14 | g.53952018G>T | CA389785355 | BMP4 | c.205C>A (p.Arg69Ser) c.130C>A (p.Arg44Ser) c.16C>A (p.Arg6Ser) c.346C>A (p.Arg116Ser) | gnomAD v4 |
14 | g.53952019G>A | CA7191814 | BMP4 | c.204C>T (p.Arg68=) c.129C>T (p.Arg43=) c.15C>T (p.Arg5=) c.345C>T (p.Arg115=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53952019G>C | CA486658774 | BMP4 | c.204C>G (p.Arg68=) c.129C>G (p.Arg43=) c.15C>G (p.Arg5=) c.345C>G (p.Arg115=) | |
14 | g.53952019G= | CA2137819302 | BMP4 | c.204C= (p.Arg68=) c.129C= (p.Arg43=) c.15C= (p.Arg5=) c.345C= (p.Arg115=) | |
14 | g.53952019G>T | CA486658775 | BMP4 | c.204C>A (p.Arg68=) c.129C>A (p.Arg43=) c.15C>A (p.Arg5=) c.345C>A (p.Arg115=) | |
14 | g.53952020C>A | CA389785356 | BMP4 | c.203G>T (p.Arg68Leu) c.128G>T (p.Arg43Leu) c.14G>T (p.Arg5Leu) c.344G>T (p.Arg115Leu) | |
14 | g.53952020C= | CA2137819305 | BMP4 | c.203G= (p.Arg68=) c.128G= (p.Arg43=) c.14G= (p.Arg5=) c.344G= (p.Arg115=) | |
14 | g.53952020C>G | CA389785357 | BMP4 | c.203G>C (p.Arg68Pro) c.128G>C (p.Arg43Pro) c.14G>C (p.Arg5Pro) c.344G>C (p.Arg115Pro) | |
14 | g.53952020C>T | CA389785358 | BMP4 | c.203G>A (p.Arg68His) c.128G>A (p.Arg43His) c.14G>A (p.Arg5His) c.344G>A (p.Arg115His) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.53952021G>A | CA389785361 | BMP4 | c.202C>T (p.Arg68Cys) c.127C>T (p.Arg43Cys) c.13C>T (p.Arg5Cys) c.343C>T (p.Arg115Cys) | gnomAD v4 COSMIC |
14 | g.53952021G>C | CA389785360 | BMP4 | c.202C>G (p.Arg68Gly) c.127C>G (p.Arg43Gly) c.13C>G (p.Arg5Gly) c.343C>G (p.Arg115Gly) | |
14 | g.53952021G>T | CA389785359 | BMP4 | c.202C>A (p.Arg68Ser) c.127C>A (p.Arg43Ser) c.13C>A (p.Arg5Ser) c.343C>A (p.Arg115Ser) | |
14 | g.53952022C>A | CA486658778 | BMP4 | c.201G>T (p.Leu67=) c.126G>T (p.Leu42=) c.12G>T (p.Leu4=) c.342G>T (p.Leu114=) | |
14 | g.53952022C= | CA2137819308 | BMP4 | c.201G= (p.Leu67=) c.126G= (p.Leu42=) c.12G= (p.Leu4=) c.342G= (p.Leu114=) | |
14 | g.53952022C>G | CA486658780 | BMP4 | c.201G>C (p.Leu67=) c.126G>C (p.Leu42=) c.12G>C (p.Leu4=) c.342G>C (p.Leu114=) | |
14 | g.53952022C>T | CA486658782 | BMP4 | c.201G>A (p.Leu67=) c.126G>A (p.Leu42=) c.12G>A (p.Leu4=) c.342G>A (p.Leu114=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.53952023A>C | CA389785362 | BMP4 | c.200T>G (p.Leu67Arg) c.125T>G (p.Leu42Arg) c.11T>G (p.Leu4Arg) c.341T>G (p.Leu114Arg) | |
14 | g.53952023A>G | CA389785363 | BMP4 | c.200T>C (p.Leu67Pro) c.125T>C (p.Leu42Pro) c.11T>C (p.Leu4Pro) c.341T>C (p.Leu114Pro) | |
14 | g.53952023A>T | CA389785364 | BMP4 | c.200T>A (p.Leu67Gln) c.125T>A (p.Leu42Gln) c.11T>A (p.Leu4Gln) c.341T>A (p.Leu114Gln) | ClinVar dbSNP |
14 | g.53952024G>A | CA486658784 | BMP4 | c.199C>T (p.Leu67=) c.124C>T (p.Leu42=) c.10C>T (p.Leu4=) c.340C>T (p.Leu114=) | |
14 | g.53952024G>C | CA389785365 | BMP4 | c.199C>G (p.Leu67Val) c.124C>G (p.Leu42Val) c.10C>G (p.Leu4Val) c.340C>G (p.Leu114Val) | |
14 | g.53952024G>T | CA389785366 | BMP4 | c.199C>A (p.Leu67Met) c.124C>A (p.Leu42Met) c.10C>A (p.Leu4Met) c.340C>A (p.Leu114Met) | |
14 | g.53952025C>A | CA486658786 | BMP4 | c.198G>T (p.Gly66=) c.123G>T (p.Gly41=) c.9G>T (p.Gly3=) c.339G>T (p.Gly113=) | |
14 | g.53952025C>G | CA486658787 | BMP4 | c.198G>C (p.Gly66=) c.123G>C (p.Gly41=) c.9G>C (p.Gly3=) c.339G>C (p.Gly113=) | |
14 | g.53952025C>T | CA486658788 | BMP4 | c.198G>A (p.Gly66=) c.123G>A (p.Gly41=) c.9G>A (p.Gly3=) c.339G>A (p.Gly113=) | |
14 | g.53952026C>A | CA389785367 | BMP4 | c.197G>T (p.Gly66Val) c.122G>T (p.Gly41Val) c.8G>T (p.Gly3Val) c.338G>T (p.Gly113Val) | |
14 | g.53952026C= | CA2137819312 | BMP4 | c.197G= (p.Gly66=) c.122G= (p.Gly41=) c.8G= (p.Gly3=) c.338G= (p.Gly113=) | |
14 | g.53952026C>G | CA389785368 | BMP4 | c.197G>C (p.Gly66Ala) c.122G>C (p.Gly41Ala) c.8G>C (p.Gly3Ala) c.338G>C (p.Gly113Ala) | |
14 | g.53952026C>T | CA389785369 | BMP4 | c.197G>A (p.Gly66Glu) c.122G>A (p.Gly41Glu) c.8G>A (p.Gly3Glu) c.338G>A (p.Gly113Glu) | ClinVar dbSNP gnomAD v4 |
14 | g.53952027C>A | CA389785370 | BMP4 | c.196G>T (p.Gly66Trp) c.121G>T (p.Gly41Trp) c.7G>T (p.Gly3Trp) c.337G>T (p.Gly113Trp) | |
14 | g.53952027C>G | CA389785371 | BMP4 | c.196G>C (p.Gly66Arg) c.121G>C (p.Gly41Arg) c.7G>C (p.Gly3Arg) c.337G>C (p.Gly113Arg) | |
14 | g.53952027C>T | CA389785372 | BMP4 | c.196G>A (p.Gly66Arg) c.121G>A (p.Gly41Arg) c.7G>A (p.Gly3Arg) c.337G>A (p.Gly113Arg) | |
14 | g.53952028A>C | CA389785373 | BMP4 | c.195T>G (p.Phe65Leu) c.120T>G (p.Phe40Leu) c.6T>G (p.Phe2Leu) c.336T>G (p.Phe112Leu) | |
14 | g.53952028A>G | CA486658790 | BMP4 | c.195T>C (p.Phe65=) c.120T>C (p.Phe40=) c.6T>C (p.Phe2=) c.336T>C (p.Phe112=) | |
14 | g.53952028A>T | CA389785374 | BMP4 | c.195T>A (p.Phe65Leu) c.120T>A (p.Phe40Leu) c.6T>A (p.Phe2Leu) c.336T>A (p.Phe112Leu) | |
14 | g.53952029A>C | CA389785377 | BMP4 | c.194T>G (p.Phe65Cys) c.119T>G (p.Phe40Cys) c.5T>G (p.Phe2Cys) c.335T>G (p.Phe112Cys) | |
14 | g.53952029A>G | CA389785376 | BMP4 | c.194T>C (p.Phe65Ser) c.119T>C (p.Phe40Ser) c.5T>C (p.Phe2Ser) c.335T>C (p.Phe112Ser) | |
14 | g.53952029A>T | CA389785375 | BMP4 | c.194T>A (p.Phe65Tyr) c.119T>A (p.Phe40Tyr) c.5T>A (p.Phe2Tyr) c.335T>A (p.Phe112Tyr) | |
14 | g.53952030A>C | CA389785378 | BMP4 | c.193T>G (p.Phe65Val) c.118T>G (p.Phe40Val) c.4T>G (p.Phe2Val) c.334T>G (p.Phe112Val) | |
14 | g.53952030A>G | CA389785379 | BMP4 | c.193T>C (p.Phe65Leu) c.118T>C (p.Phe40Leu) c.4T>C (p.Phe2Leu) c.334T>C (p.Phe112Leu) | |
14 | g.53952030A>T | CA389785380 | BMP4 | c.193T>A (p.Phe65Ile) c.118T>A (p.Phe40Ile) c.4T>A (p.Phe2Ile) c.334T>A (p.Phe112Ile) | |
14 | g.53952031C>A | CA389785381 | BMP4 | c.192G>T (p.Met64Ile) c.117G>T (p.Met39Ile) c.3G>T (p.Met1Ile) c.333G>T (p.Met111Ile) | gnomAD v4 |
14 | g.53952031C>G | CA389785382 | BMP4 | c.192G>C (p.Met64Ile) c.117G>C (p.Met39Ile) c.3G>C (p.Met1Ile) c.333G>C (p.Met111Ile) | |
14 | g.53952031C>T | CA389785383 | BMP4 | c.192G>A (p.Met64Ile) c.117G>A (p.Met39Ile) c.3G>A (p.Met1Ile) c.333G>A (p.Met111Ile) | |
14 | g.53952032A>C | CA389785384 | BMP4 | c.191T>G (p.Met64Arg) c.116T>G (p.Met39Arg) c.2T>G (p.Met1Arg) c.332T>G (p.Met111Arg) | |
14 | g.53952032A>G | CA389785385 | BMP4 | c.191T>C (p.Met64Thr) c.116T>C (p.Met39Thr) c.2T>C (p.Met1Thr) c.332T>C (p.Met111Thr) | |
14 | g.53952032A>T | CA389785386 | BMP4 | c.191T>A (p.Met64Lys) c.116T>A (p.Met39Lys) c.2T>A (p.Met1Lys) c.332T>A (p.Met111Lys) | |
14 | g.53952033T>A | CA389785387 | BMP4 | c.190A>T (p.Met64Leu) c.115A>T (p.Met39Leu) c.1A>T (p.Met1Leu) c.331A>T (p.Met111Leu) | |
14 | g.53952033T>C | CA261472785 | BMP4 | c.190A>G (p.Met64Val) c.115A>G (p.Met39Val) c.1A>G (p.Met1Val) c.331A>G (p.Met111Val) | dbSNP gnomAD v4 |
14 | g.53952033T>G | CA389785388 | BMP4 | c.190A>C (p.Met64Leu) c.115A>C (p.Met39Leu) c.1A>C (p.Met1Leu) c.331A>C (p.Met111Leu) | |
14 | g.53952033T= | CA2137819316 | BMP4 | c.190A= (p.Met64=) c.115A= (p.Met39=) c.1A= (p.Met1=) c.331A= (p.Met111=) | |
14 | g.53952034C>A | CA389785389 | BMP4 | c.189G>T (p.Gln63His) c.114G>T (p.Gln38His) c.-1G>T (n.-1G>T) c.330G>T (p.Gln110His) | |
14 | g.53952034C= | CA2137819319 | BMP4 | c.189G= (p.Gln63=) c.114G= (p.Gln38=) c.-1G= (n.-1G=) c.330G= (p.Gln110=) | |
14 | g.53952034C>G | CA389785390 | BMP4 | c.189G>C (p.Gln63His) c.114G>C (p.Gln38His) c.-1G>C (n.-1G>C) c.330G>C (p.Gln110His) | dbSNP |
14 | g.53952034C>T | CA486658796 | BMP4 | c.189G>A (p.Gln63=) c.114G>A (p.Gln38=) c.-1G>A (n.-1G>A) c.330G>A (p.Gln110=) | |
14 | g.53952035T>A | CA389785393 | BMP4 | c.188A>T (p.Gln63Leu) c.113A>T (p.Gln38Leu) c.-2A>T (n.-2A>T) c.329A>T (p.Gln110Leu) | |
14 | g.53952035T>C | CA389785392 | BMP4 | c.188A>G (p.Gln63Arg) c.113A>G (p.Gln38Arg) c.-2A>G (n.-2A>G) c.329A>G (p.Gln110Arg) | |
14 | g.53952035T>G | CA389785391 | BMP4 | c.188A>C (p.Gln63Pro) c.113A>C (p.Gln38Pro) c.-2A>C (n.-2A>C) c.329A>C (p.Gln110Pro) | |
14 | g.53952036G>A | CA389785394 | BMP4 | c.187C>T (p.Gln63Ter) c.112C>T (p.Gln38Ter) c.-3C>T (n.-3C>T) c.328C>T (p.Gln110Ter) | |
14 | g.53952036G>C | CA389785395 | BMP4 | c.187C>G (p.Gln63Glu) c.112C>G (p.Gln38Glu) c.-3C>G (n.-3C>G) c.328C>G (p.Gln110Glu) | |
14 | g.53952036G>T | CA389785396 | BMP4 | c.187C>A (p.Gln63Lys) c.112C>A (p.Gln38Lys) c.-3C>A (n.-3C>A) c.328C>A (p.Gln110Lys) | |
14 | g.53952037C>A | CA486658808 | BMP4 | c.186G>T (p.Leu62=) c.111G>T (p.Leu37=) c.-4G>T (n.-4G>T) c.327G>T (p.Leu109=) | |
14 | g.53952037C>G | CA486658809 | BMP4 | c.186G>C (p.Leu62=) c.111G>C (p.Leu37=) c.-4G>C (n.-4G>C) c.327G>C (p.Leu109=) | |
14 | g.53952037C>T | CA486658810 | BMP4 | c.186G>A (p.Leu62=) c.111G>A (p.Leu37=) c.-4G>A (n.-4G>A) c.327G>A (p.Leu109=) | |
14 | g.53952038A= | CA2137819323 | BMP4 | c.185T= (p.Leu62=) c.110T= (p.Leu37=) c.-5T= (n.-5T=) c.326T= (p.Leu109=) | |
14 | g.53952038A>C | CA389785397 | BMP4 | c.185T>G (p.Leu62Arg) c.110T>G (p.Leu37Arg) c.-5T>G (n.-5T>G) c.326T>G (p.Leu109Arg) | dbSNP gnomAD v4 |
14 | g.53952038A>G | CA389785398 | BMP4 | c.185T>C (p.Leu62Pro) c.110T>C (p.Leu37Pro) c.-5T>C (n.-5T>C) c.326T>C (p.Leu109Pro) | gnomAD v4 |
14 | g.53952038A>T | CA389785399 | BMP4 | c.185T>A (p.Leu62Gln) c.110T>A (p.Leu37Gln) c.-5T>A (n.-5T>A) c.326T>A (p.Leu109Gln) | |
14 | g.53952039G>A | CA486658812 | BMP4 | c.184C>T (p.Leu62=) c.109C>T (p.Leu37=) c.-6C>T (n.-6C>T) c.325C>T (p.Leu109=) | gnomAD v4 |
14 | g.53952039G>C | CA389785400 | BMP4 | c.184C>G (p.Leu62Val) c.109C>G (p.Leu37Val) c.-6C>G (n.-6C>G) c.325C>G (p.Leu109Val) | ClinVar dbSNP gnomAD v4 |
14 | g.53952039G>T | CA389785401 | BMP4 | c.184C>A (p.Leu62Met) c.109C>A (p.Leu37Met) c.-6C>A (n.-6C>A) c.325C>A (p.Leu109Met) | |
14 | g.53952040A>C | CA486658813 | BMP4 | c.183T>G (p.Leu61=) c.108T>G (p.Leu36=) c.-7T>G (n.-7T>G) c.324T>G (p.Leu108=) | |
14 | g.53952040A>G | CA486658815 | BMP4 | c.183T>C (p.Leu61=) c.108T>C (p.Leu36=) c.-7T>C (n.-7T>C) c.324T>C (p.Leu108=) | |
14 | g.53952040A>T | CA486658817 | BMP4 | c.183T>A (p.Leu61=) c.108T>A (p.Leu36=) c.-7T>A (n.-7T>A) c.324T>A (p.Leu108=) | |
14 | g.53952041A>C | CA389785402 | BMP4 | c.182T>G (p.Leu61Arg) c.107T>G (p.Leu36Arg) c.-8T>G (n.-8T>G) c.323T>G (p.Leu108Arg) | |
14 | g.53952041A>G | CA389785403 | BMP4 | c.182T>C (p.Leu61Pro) c.107T>C (p.Leu36Pro) c.-8T>C (n.-8T>C) c.323T>C (p.Leu108Pro) | |
14 | g.53952041A>T | CA389785404 | BMP4 | c.182T>A (p.Leu61His) c.107T>A (p.Leu36His) c.-8T>A (n.-8T>A) c.323T>A (p.Leu108His) | |
14 | g.53952042G>A | CA389785405 | BMP4 | c.181C>T (p.Leu61Phe) c.106C>T (p.Leu36Phe) c.-9C>T (n.-9C>T) c.322C>T (p.Leu108Phe) | gnomAD v4 |
14 | g.53952042G>C | CA389785406 | BMP4 | c.181C>G (p.Leu61Val) c.106C>G (p.Leu36Val) c.-9C>G (n.-9C>G) c.322C>G (p.Leu108Val) | gnomAD v4 |
14 | g.53952042G>T | CA389785407 | BMP4 | c.181C>A (p.Leu61Ile) c.106C>A (p.Leu36Ile) c.-9C>A (n.-9C>A) c.322C>A (p.Leu108Ile) | |
14 | g.53952043T>A | CA486658821 | BMP4 | c.180A>T (p.Thr60=) c.105A>T (p.Thr35=) c.-10A>T (n.-10A>T) c.321A>T (p.Thr107=) | |
14 | g.53952043T>C | CA486658822 | BMP4 | c.180A>G (p.Thr60=) c.105A>G (p.Thr35=) c.-10A>G (n.-10A>G) c.321A>G (p.Thr107=) | ClinVar |
14 | g.53952043T>G | CA486658824 | BMP4 | c.180A>C (p.Thr60=) c.105A>C (p.Thr35=) c.-10A>C (n.-10A>C) c.321A>C (p.Thr107=) | |
14 | g.53952044G>A | CA389785409 | BMP4 | c.179C>T (p.Thr60Ile) c.104C>T (p.Thr35Ile) c.-11C>T (n.-11C>T) c.320C>T (p.Thr107Ile) | |
14 | g.53952044G>C | CA389785410 | BMP4 | c.179C>G (p.Thr60Arg) c.104C>G (p.Thr35Arg) c.-11C>G (n.-11C>G) c.320C>G (p.Thr107Arg) | |
14 | g.53952044G>T | CA389785408 | BMP4 | c.179C>A (p.Thr60Lys) c.104C>A (p.Thr35Lys) c.-11C>A (n.-11C>A) c.320C>A (p.Thr107Lys) | |
14 | g.53952045T>A | CA389785411 | BMP4 | c.178A>T (p.Thr60Ser) c.103A>T (p.Thr35Ser) c.-12A>T (n.-12A>T) c.319A>T (p.Thr107Ser) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.53952045T>C | CA389785412 | BMP4 | c.178A>G (p.Thr60Ala) c.103A>G (p.Thr35Ala) c.-12A>G (n.-12A>G) c.319A>G (p.Thr107Ala) | gnomAD v4 |
14 | g.53952045T>G | CA389785413 | BMP4 | c.178A>C (p.Thr60Pro) c.103A>C (p.Thr35Pro) c.-12A>C (n.-12A>C) c.319A>C (p.Thr107Pro) | |
14 | g.53952045T= | CA2137819325 | BMP4 | c.178A= (p.Thr60=) c.103A= (p.Thr35=) c.-12A= (n.-12A=) c.319A= (p.Thr107=) | |
14 | g.53952046C>A | CA486658829 | BMP4 | c.177G>T (p.Ala59=) c.102G>T (p.Ala34=) c.-13G>T (n.-13G>T) c.318G>T (p.Ala106=) | |
14 | g.53952046C= | CA2137819329 | BMP4 | c.177G= (p.Ala59=) c.102G= (p.Ala34=) c.-13G= (n.-13G=) c.318G= (p.Ala106=) | |
14 | g.53952046C>G | CA486658828 | BMP4 | c.177G>C (p.Ala59=) c.102G>C (p.Ala34=) c.-13G>C (n.-13G>C) c.318G>C (p.Ala106=) | |
14 | g.53952046C>T | CA261472786 | BMP4 | c.177G>A (p.Ala59=) c.102G>A (p.Ala34=) c.-13G>A (n.-13G>A) c.318G>A (p.Ala106=) | dbSNP gnomAD v4 COSMIC |
14 | g.53952047G>A | CA389785414 | BMP4 | c.176C>T (p.Ala59Val) c.101C>T (p.Ala34Val) c.-14C>T (n.-14C>T) c.317C>T (p.Ala106Val) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.53952047G>C | CA389785415 | BMP4 | c.176C>G (p.Ala59Gly) c.101C>G (p.Ala34Gly) c.-14C>G (n.-14C>G) c.317C>G (p.Ala106Gly) | |
14 | g.53952047G= | CA2137819332 | BMP4 | c.176C= (p.Ala59=) c.101C= (p.Ala34=) c.-14C= (n.-14C=) c.317C= (p.Ala106=) | |
14 | g.53952047G>T | CA389785416 | BMP4 | c.176C>A (p.Ala59Glu) c.101C>A (p.Ala34Glu) c.-14C>A (n.-14C>A) c.317C>A (p.Ala106Glu) | dbSNP |
14 | g.53952048C>A | CA389785419 | BMP4 | c.175G>T (p.Ala59Ser) c.100G>T (p.Ala34Ser) c.-15G>T (n.-15G>T) c.316G>T (p.Ala106Ser) | |
14 | g.53952048C>G | CA389785417 | BMP4 | c.175G>C (p.Ala59Pro) c.100G>C (p.Ala34Pro) c.-15G>C (n.-15G>C) c.316G>C (p.Ala106Pro) | |
14 | g.53952048C>T | CA389785418 | BMP4 | c.175G>A (p.Ala59Thr) c.100G>A (p.Ala34Thr) c.-15G>A (n.-15G>A) c.316G>A (p.Ala106Thr) | |
14 | g.53952049C>A | CA389785420 | BMP4 | c.174G>T (p.Glu58Asp) c.99G>T (p.Glu33Asp) c.-16G>T (n.-16G>T) c.315G>T (p.Glu105Asp) | |
14 | g.53952049C>G | CA389785421 | BMP4 | c.174G>C (p.Glu58Asp) c.99G>C (p.Glu33Asp) c.-16G>C (n.-16G>C) c.315G>C (p.Glu105Asp) | |
14 | g.53952049C>T | CA486658833 | BMP4 | c.174G>A (p.Glu58=) c.99G>A (p.Glu33=) c.-16G>A (n.-16G>A) c.315G>A (p.Glu105=) | gnomAD v4 |
14 | g.53952050T>A | CA389785422 | BMP4 | c.173A>T (p.Glu58Val) c.98A>T (p.Glu33Val) c.-17A>T (n.-17A>T) c.314A>T (p.Glu105Val) | |
14 | g.53952050T>C | CA7191815 | BMP4 | c.173A>G (p.Glu58Gly) c.98A>G (p.Glu33Gly) c.-17A>G (n.-17A>G) c.314A>G (p.Glu105Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.53952050T>G | CA389785423 | BMP4 | c.173A>C (p.Glu58Ala) c.98A>C (p.Glu33Ala) c.-17A>C (n.-17A>C) c.314A>C (p.Glu105Ala) | |
14 | g.53952050T= | CA2137819336 | BMP4 | c.173A= (p.Glu58=) c.98A= (p.Glu33=) c.-17A= (n.-17A=) c.314A= (p.Glu105=) | |
14 | g.53952051C>A | CA389785424 | BMP4 | c.172G>T (p.Glu58Ter) c.97G>T (p.Glu33Ter) c.-18G>T (n.-18G>T) c.313G>T (p.Glu105Ter) | |
14 | g.53952051C= | CA2137819344 | BMP4 | c.172G= (p.Glu58=) c.97G= (p.Glu33=) c.-18G= (n.-18G=) c.313G= (p.Glu105=) | |
14 | g.53952051C>G | CA7191816 | BMP4 | c.172G>C (p.Glu58Gln) c.97G>C (p.Glu33Gln) c.-18G>C (n.-18G>C) c.313G>C (p.Glu105Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.53952051C>T | CA389785425 | BMP4 | c.172G>A (p.Glu58Lys) c.97G>A (p.Glu33Lys) c.-18G>A (n.-18G>A) c.313G>A (p.Glu105Lys) | dbSNP gnomAD v4 |
14 | g.53952052G>A | CA486658837 | BMP4 | c.171C>T (p.Phe57=) c.96C>T (p.Phe32=) c.-19C>T (n.-19C>T) c.312C>T (p.Phe104=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.53952052G>C | CA7191817 | BMP4 | c.171C>G (p.Phe57Leu) c.96C>G (p.Phe32Leu) c.-19C>G (n.-19C>G) c.312C>G (p.Phe104Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.53952052G= | CA2137819347 | BMP4 | c.171C= (p.Phe57=) c.96C= (p.Phe32=) c.-19C= (n.-19C=) c.312C= (p.Phe104=) | |
14 | g.53952052G>T | CA389785426 | BMP4 | c.171C>A (p.Phe57Leu) c.96C>A (p.Phe32Leu) c.-19C>A (n.-19C>A) c.312C>A (p.Phe104Leu) | |
14 | g.53952052dup | CA2580088246 | BMP4 | c.171dup (p.Glu58ArgfsTer17) c.96dup (p.Glu33ArgfsTer17) c.-19dup (n.-19dup) c.312dup (p.Glu105ArgfsTer17) | ClinVar dbSNP |
14 | g.53952053A>C | CA389785427 | BMP4 | c.170T>G (p.Phe57Cys) c.95T>G (p.Phe32Cys) c.-20T>G (n.-20T>G) c.311T>G (p.Phe104Cys) | |
14 | g.53952053A>G | CA389785428 | BMP4 | c.170T>C (p.Phe57Ser) c.95T>C (p.Phe32Ser) c.-20T>C (n.-20T>C) c.311T>C (p.Phe104Ser) | |
14 | g.53952053A>T | CA389785429 | BMP4 | c.170T>A (p.Phe57Tyr) c.95T>A (p.Phe32Tyr) c.-20T>A (n.-20T>A) c.311T>A (p.Phe104Tyr) | |
14 | g.53952054A>C | CA389785430 | BMP4 | c.169T>G (p.Phe57Val) c.94T>G (p.Phe32Val) c.-21T>G (n.-21T>G) c.310T>G (p.Phe104Val) | |
14 | g.53952054A>G | CA389785431 | BMP4 | c.169T>C (p.Phe57Leu) c.94T>C (p.Phe32Leu) c.-21T>C (n.-21T>C) c.310T>C (p.Phe104Leu) | ClinVar |
14 | g.53952054A>T | CA389785432 | BMP4 | c.169T>A (p.Phe57Ile) c.94T>A (p.Phe32Ile) c.-21T>A (n.-21T>A) c.310T>A (p.Phe104Ile) | |
14 | g.53952055G>A | CA486658838 | BMP4 | c.168C>T (p.Asp56=) c.93C>T (p.Asp31=) c.-22C>T (n.-22C>T) c.309C>T (p.Asp103=) | gnomAD v4 |
14 | g.53952055G>C | CA389785433 | BMP4 | c.168C>G (p.Asp56Glu) c.93C>G (p.Asp31Glu) c.-22C>G (n.-22C>G) c.309C>G (p.Asp103Glu) | |
14 | g.53952055G= | CA2137819350 | BMP4 | c.168C= (p.Asp56=) c.93C= (p.Asp31=) c.-22C= (n.-22C=) c.309C= (p.Asp103=) | |
14 | g.53952055G>T | CA7191818 | BMP4 | c.168C>A (p.Asp56Glu) c.93C>A (p.Asp31Glu) c.-22C>A (n.-22C>A) c.309C>A (p.Asp103Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53952056T>A | CA389785436 | BMP4 | c.167A>T (p.Asp56Val) c.92A>T (p.Asp31Val) c.-23A>T (n.-23A>T) c.308A>T (p.Asp103Val) | ClinVar |
14 | g.53952056T>C | CA389785434 | BMP4 | c.167A>G (p.Asp56Gly) c.92A>G (p.Asp31Gly) c.-23A>G (n.-23A>G) c.308A>G (p.Asp103Gly) | |
14 | g.53952056T>G | CA389785435 | BMP4 | c.167A>C (p.Asp56Ala) c.92A>C (p.Asp31Ala) c.-23A>C (n.-23A>C) c.308A>C (p.Asp103Ala) | |
14 | g.53952057C>A | CA389785437 | BMP4 | c.166G>T (p.Asp56Tyr) c.91G>T (p.Asp31Tyr) c.-24G>T (n.-24G>T) c.307G>T (p.Asp103Tyr) | |
14 | g.53952057C>G | CA389785439 | BMP4 | c.166G>C (p.Asp56His) c.91G>C (p.Asp31His) c.-24G>C (n.-24G>C) c.307G>C (p.Asp103His) | |
14 | g.53952057C>T | CA389785438 | BMP4 | c.166G>A (p.Asp56Asn) c.91G>A (p.Asp31Asn) c.-24G>A (n.-24G>A) c.307G>A (p.Asp103Asn) | |
14 | g.53952058C>A | CA486658843 | BMP4 | c.165G>T (p.Arg55=) c.90G>T (p.Arg30=) c.-25G>T (n.-25G>T) c.306G>T (p.Arg102=) | gnomAD v4 |
14 | g.53952058C= | CA2137819352 | BMP4 | c.165G= (p.Arg55=) c.90G= (p.Arg30=) c.-25G= (n.-25G=) c.306G= (p.Arg102=) | |
14 | g.53952058C>G | CA486658844 | BMP4 | c.165G>C (p.Arg55=) c.90G>C (p.Arg30=) c.-25G>C (n.-25G>C) c.306G>C (p.Arg102=) | |
14 | g.53952058C>T | CA7191819 | BMP4 | c.165G>A (p.Arg55=) c.90G>A (p.Arg30=) c.-25G>A (n.-25G>A) c.306G>A (p.Arg102=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.53952059C>A | CA389785441 | BMP4 | c.164G>T (p.Arg55Leu) c.89G>T (p.Arg30Leu) c.-26G>T (n.-26G>T) c.305G>T (p.Arg102Leu) | dbSNP |
14 | g.53952059C= | CA2137819356 | BMP4 | c.164G= (p.Arg55=) c.89G= (p.Arg30=) c.-26G= (n.-26G=) c.305G= (p.Arg102=) | |
14 | g.53952059C>G | CA389785440 | BMP4 | c.164G>C (p.Arg55Pro) c.89G>C (p.Arg30Pro) c.-26G>C (n.-26G>C) c.305G>C (p.Arg102Pro) | gnomAD v4 |
14 | g.53952059C>T | CA7191820 | BMP4 | c.164G>A (p.Arg55Gln) c.89G>A (p.Arg30Gln) c.-26G>A (n.-26G>A) c.305G>A (p.Arg102Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
14 | g.53952060G>A | CA7191821 | BMP4 | c.163C>T (p.Arg55Trp) c.88C>T (p.Arg30Trp) c.-27C>T (n.-27C>T) c.304C>T (p.Arg102Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53952060G>C | CA389785442 | BMP4 | c.163C>G (p.Arg55Gly) c.88C>G (p.Arg30Gly) c.-27C>G (n.-27C>G) c.304C>G (p.Arg102Gly) | |
14 | g.53952060G= | CA2137819358 | BMP4 | c.163C= (p.Arg55=) c.88C= (p.Arg30=) c.-27C= (n.-27C=) c.304C= (p.Arg102=) | |
14 | g.53952060G>T | CA486658846 | BMP4 | c.163C>A (p.Arg55=) c.88C>A (p.Arg30=) c.-27C>A (n.-27C>A) c.304C>A (p.Arg102=) | |
14 | g.53952061C>A | CA486658847 | BMP4 | c.162G>T (p.Leu54=) c.87G>T (p.Leu29=) c.-28G>T (n.-28G>T) c.303G>T (p.Leu101=) | gnomAD v4 |
14 | g.53952061C= | CA2137819360 | BMP4 | c.162G= (p.Leu54=) c.87G= (p.Leu29=) c.-28G= (n.-28G=) c.303G= (p.Leu101=) | |
14 | g.53952061C>G | CA486658848 | BMP4 | c.162G>C (p.Leu54=) c.87G>C (p.Leu29=) c.-28G>C (n.-28G>C) c.303G>C (p.Leu101=) | |
14 | g.53952061C>T | CA486658849 | BMP4 | c.162G>A (p.Leu54=) c.87G>A (p.Leu29=) c.-28G>A (n.-28G>A) c.303G>A (p.Leu101=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.53952062A>C | CA389785443 | BMP4 | c.161T>G (p.Leu54Arg) c.86T>G (p.Leu29Arg) c.-29T>G (n.-29T>G) c.302T>G (p.Leu101Arg) | |
14 | g.53952062A>G | CA389785444 | BMP4 | c.161T>C (p.Leu54Pro) c.86T>C (p.Leu29Pro) c.-29T>C (n.-29T>C) c.302T>C (p.Leu101Pro) | |
14 | g.53952062A>T | CA389785445 | BMP4 | c.161T>A (p.Leu54Gln) c.86T>A (p.Leu29Gln) c.-29T>A (n.-29T>A) c.302T>A (p.Leu101Gln) | gnomAD v4 |
14 | g.53952063G>A | CA486658850 | BMP4 | c.160C>T (p.Leu54=) c.85C>T (p.Leu29=) c.-30C>T (n.-30C>T) c.301C>T (p.Leu101=) | dbSNP |
14 | g.53952063G>C | CA389785446 | BMP4 | c.160C>G (p.Leu54Val) c.85C>G (p.Leu29Val) c.-30C>G (n.-30C>G) c.301C>G (p.Leu101Val) | |
14 | g.53952063G>T | CA389785447 | BMP4 | c.160C>A (p.Leu54Met) c.85C>A (p.Leu29Met) c.-30C>A (n.-30C>A) c.301C>A (p.Leu101Met) | |
14 | g.53952064G>A | CA486658853 | BMP4 | c.159C>T (p.Leu53=) c.84C>T (p.Leu28=) c.-31C>T (n.-31C>T) c.300C>T (p.Leu100=) | ClinVar dbSNP gnomAD v4 |
14 | g.53952064G>C | CA486658855 | BMP4 | c.159C>G (p.Leu53=) c.84C>G (p.Leu28=) c.-31C>G (n.-31C>G) c.300C>G (p.Leu100=) | gnomAD v4 |
14 | g.53952064G= | CA2137819362 | BMP4 | c.159C= (p.Leu53=) c.84C= (p.Leu28=) c.-31C= (n.-31C=) c.300C= (p.Leu100=) | |
14 | g.53952064G>T | CA486658857 | BMP4 | c.159C>A (p.Leu53=) c.84C>A (p.Leu28=) c.-31C>A (n.-31C>A) c.300C>A (p.Leu100=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.53952065A= | CA2137819366 | BMP4 | c.158T= (p.Leu53=) c.83T= (p.Leu28=) c.-32T= (n.-32T=) c.299T= (p.Leu100=) | |
14 | g.53952065A>C | CA389785448 | BMP4 | c.158T>G (p.Leu53Arg) c.83T>G (p.Leu28Arg) c.-32T>G (n.-32T>G) c.299T>G (p.Leu100Arg) | |
14 | g.53952065A>G | CA389785449 | BMP4 | c.158T>C (p.Leu53Pro) c.83T>C (p.Leu28Pro) c.-32T>C (n.-32T>C) c.299T>C (p.Leu100Pro) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.53952065A>T | CA389785450 | BMP4 | c.158T>A (p.Leu53His) c.83T>A (p.Leu28His) c.-32T>A (n.-32T>A) c.299T>A (p.Leu100His) |