| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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) | |
| 14 | g.53952066G>A | CA389785451 | BMP4 | c.157C>T (p.Leu53Phe) c.82C>T (p.Leu28Phe) c.-33C>T (n.-33C>T) c.298C>T (p.Leu100Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.53952066G>C | CA389785453 | BMP4 | c.157C>G (p.Leu53Val) c.82C>G (p.Leu28Val) c.-33C>G (n.-33C>G) c.298C>G (p.Leu100Val) | |
| 14 | g.53952066G= | CA2137819368 | BMP4 | c.157C= (p.Leu53=) c.82C= (p.Leu28=) c.-33C= (n.-33C=) c.298C= (p.Leu100=) | |
| 14 | g.53952066G>T | CA389785452 | BMP4 | c.157C>A (p.Leu53Ile) c.82C>A (p.Leu28Ile) c.-33C>A (n.-33C>A) c.298C>A (p.Leu100Ile) | |
| 14 | g.53952067C>A | CA389785454 | BMP4 | c.156G>T (p.Glu52Asp) c.81G>T (p.Glu27Asp) c.-34G>T (n.-34G>T) c.297G>T (p.Glu99Asp) | |
| 14 | g.53952067C>G | CA389785455 | BMP4 | c.156G>C (p.Glu52Asp) c.81G>C (p.Glu27Asp) c.-34G>C (n.-34G>C) c.297G>C (p.Glu99Asp) | |
| 14 | g.53952067C>T | CA486658858 | BMP4 | c.156G>A (p.Glu52=) c.81G>A (p.Glu27=) c.-34G>A (n.-34G>A) c.297G>A (p.Glu99=) | |
| 14 | g.53952068T>A | CA389785456 | BMP4 | c.155A>T (p.Glu52Val) c.80A>T (p.Glu27Val) c.-35A>T (n.-35A>T) c.296A>T (p.Glu99Val) | |
| 14 | g.53952068T>C | CA389785457 | BMP4 | c.155A>G (p.Glu52Gly) c.80A>G (p.Glu27Gly) c.-35A>G (n.-35A>G) c.296A>G (p.Glu99Gly) | |
| 14 | g.53952068T>G | CA389785458 | BMP4 | c.155A>C (p.Glu52Ala) c.80A>C (p.Glu27Ala) c.-35A>C (n.-35A>C) c.296A>C (p.Glu99Ala) | |
| 14 | g.53952069C>A | CA389785459 | BMP4 | c.154G>T (p.Glu52Ter) c.79G>T (p.Glu27Ter) c.-36G>T (n.-36G>T) c.295G>T (p.Glu99Ter) | |
| 14 | g.53952069C>G | CA389785460 | BMP4 | c.154G>C (p.Glu52Gln) c.79G>C (p.Glu27Gln) c.-36G>C (n.-36G>C) c.295G>C (p.Glu99Gln) | |
| 14 | g.53952069C>T | CA389785461 | BMP4 | c.154G>A (p.Glu52Lys) c.79G>A (p.Glu27Lys) c.-36G>A (n.-36G>A) c.295G>A (p.Glu99Lys) | |
| 14 | g.53952070A= | CA2137819370 | BMP4 | c.153T= (p.His51=) c.78T= (p.His26=) c.-37T= (n.-37T=) c.294T= (p.His98=) | |
| 14 | g.53952070A>C | CA261472787 | BMP4 | c.153T>G (p.His51Gln) c.78T>G (p.His26Gln) c.-37T>G (n.-37T>G) c.294T>G (p.His98Gln) | ClinVar dbSNP gnomAD v4 |
| 14 | g.53952070A>G | CA486658860 | BMP4 | c.153T>C (p.His51=) c.78T>C (p.His26=) c.-37T>C (n.-37T>C) c.294T>C (p.His98=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.53952070A>T | CA389785462 | BMP4 | c.153T>A (p.His51Gln) c.78T>A (p.His26Gln) c.-37T>A (n.-37T>A) c.294T>A (p.His98Gln) | |
| 14 | g.53952071T>A | CA389785464 | BMP4 | c.152A>T (p.His51Leu) c.77A>T (p.His26Leu) c.-38A>T (n.-38A>T) c.293A>T (p.His98Leu) | |
| 14 | g.53952071T>C | CA389785465 | BMP4 | c.152A>G (p.His51Arg) c.77A>G (p.His26Arg) c.-38A>G (n.-38A>G) c.293A>G (p.His98Arg) | gnomAD v4 |
| 14 | g.53952071T>G | CA389785463 | BMP4 | c.152A>C (p.His51Pro) c.77A>C (p.His26Pro) c.-38A>C (n.-38A>C) c.293A>C (p.His98Pro) | |
| 14 | g.53952072G>A | CA389785466 | BMP4 | c.151C>T (p.His51Tyr) c.76C>T (p.His26Tyr) c.-39C>T (n.-39C>T) c.292C>T (p.His98Tyr) | |
| 14 | g.53952072G>C | CA389785467 | BMP4 | c.151C>G (p.His51Asp) c.76C>G (p.His26Asp) c.-39C>G (n.-39C>G) c.292C>G (p.His98Asp) | |
| 14 | g.53952072G>T | CA389785468 | BMP4 | c.151C>A (p.His51Asn) c.76C>A (p.His26Asn) c.-39C>A (n.-39C>A) c.292C>A (p.His98Asn) | |
| 14 | g.53952073G>A | CA486658864 | BMP4 | c.150C>T (p.Ser50=) c.75C>T (p.Ser25=) c.-40C>T (n.-40C>T) c.291C>T (p.Ser97=) | dbSNP |
| 14 | g.53952073G>C | CA389785469 | BMP4 | c.150C>G (p.Ser50Arg) c.75C>G (p.Ser25Arg) c.-40C>G (n.-40C>G) c.291C>G (p.Ser97Arg) | |
| 14 | g.53952073G= | CA2137819375 | BMP4 | c.150C= (p.Ser50=) c.75C= (p.Ser25=) c.-40C= (n.-40C=) c.291C= (p.Ser97=) | |
| 14 | g.53952073G>T | CA389785470 | BMP4 | c.150C>A (p.Ser50Arg) c.75C>A (p.Ser25Arg) c.-40C>A (n.-40C>A) c.291C>A (p.Ser97Arg) | |
| 14 | g.53952074C>A | CA389785473 | BMP4 | c.149G>T (p.Ser50Ile) c.74G>T (p.Ser25Ile) c.-41G>T (n.-41G>T) c.290G>T (p.Ser97Ile) | |
| 14 | g.53952074C>G | CA389785471 | BMP4 | c.149G>C (p.Ser50Thr) c.74G>C (p.Ser25Thr) c.-41G>C (n.-41G>C) c.290G>C (p.Ser97Thr) | |
| 14 | g.53952074C>T | CA389785472 | BMP4 | c.149G>A (p.Ser50Asn) c.74G>A (p.Ser25Asn) c.-41G>A (n.-41G>A) c.290G>A (p.Ser97Asn) | |
| 14 | g.53952075T>A | CA389785474 | BMP4 | c.148A>T (p.Ser50Cys) c.73A>T (p.Ser25Cys) c.-42A>T (n.-42A>T) c.289A>T (p.Ser97Cys) | gnomAD v4 |
| 14 | g.53952075T>C | CA389785475 | BMP4 | c.148A>G (p.Ser50Gly) c.73A>G (p.Ser25Gly) c.-42A>G (n.-42A>G) c.289A>G (p.Ser97Gly) | gnomAD v4 |
| 14 | g.53952075T>G | CA389785476 | BMP4 | c.148A>C (p.Ser50Arg) c.73A>C (p.Ser25Arg) c.-42A>C (n.-42A>C) c.289A>C (p.Ser97Arg) | |
| 14 | g.53952076C>A | CA389785477 | BMP4 | c.147G>T (p.Gln49His) c.72G>T (p.Gln24His) c.-43G>T (n.-43G>T) c.288G>T (p.Gln96His) | |
| 14 | g.53952076C>G | CA389785478 | BMP4 | c.147G>C (p.Gln49His) c.72G>C (p.Gln24His) c.-43G>C (n.-43G>C) c.288G>C (p.Gln96His) | |
| 14 | g.53952076C>T | CA486658871 | BMP4 | c.147G>A (p.Gln49=) c.72G>A (p.Gln24=) c.-43G>A (n.-43G>A) c.288G>A (p.Gln96=) | |
| 14 | g.53952077T>A | CA389785479 | BMP4 | c.146A>T (p.Gln49Leu) c.71A>T (p.Gln24Leu) c.-44A>T (n.-44A>T) c.287A>T (p.Gln96Leu) | |
| 14 | g.53952077T>C | CA389785481 | BMP4 | c.146A>G (p.Gln49Arg) c.71A>G (p.Gln24Arg) c.-44A>G (n.-44A>G) c.287A>G (p.Gln96Arg) | |
| 14 | g.53952077T>G | CA389785480 | BMP4 | c.146A>C (p.Gln49Pro) c.71A>C (p.Gln24Pro) c.-44A>C (n.-44A>C) c.287A>C (p.Gln96Pro) | |
| 14 | g.53952078G>A | CA389785482 | BMP4 | c.145C>T (p.Gln49Ter) c.70C>T (p.Gln24Ter) c.-45C>T (n.-45C>T) c.286C>T (p.Gln96Ter) | |
| 14 | g.53952078G>C | CA389785483 | BMP4 | c.145C>G (p.Gln49Glu) c.70C>G (p.Gln24Glu) c.-45C>G (n.-45C>G) c.286C>G (p.Gln96Glu) | |
| 14 | g.53952078G>T | CA389785484 | BMP4 | c.145C>A (p.Gln49Lys) c.70C>A (p.Gln24Lys) c.-45C>A (n.-45C>A) c.286C>A (p.Gln96Lys) | |
| 14 | g.53952079C>A | CA486658872 | BMP4 | c.144G>T (p.Gly48=) c.69G>T (p.Gly23=) c.-46G>T (n.-46G>T) c.285G>T (p.Gly95=) | |
| 14 | g.53952079C= | CA2137819378 | BMP4 | c.144G= (p.Gly48=) c.69G= (p.Gly23=) c.-46G= (n.-46G=) c.285G= (p.Gly95=) | |
| 14 | g.53952079C>G | CA486658876 | BMP4 | c.144G>C (p.Gly48=) c.69G>C (p.Gly23=) c.-46G>C (n.-46G>C) c.285G>C (p.Gly95=) | |
| 14 | g.53952079C>T | CA486658874 | BMP4 | c.144G>A (p.Gly48=) c.69G>A (p.Gly23=) c.-46G>A (n.-46G>A) c.285G>A (p.Gly95=) | dbSNP gnomAD v2 |
| 14 | g.53952080C>A | CA389785485 | BMP4 | c.143G>T (p.Gly48Val) c.68G>T (p.Gly23Val) c.-47G>T (n.-47G>T) c.284G>T (p.Gly95Val) | |
| 14 | g.53952080C>G | CA389785486 | BMP4 | c.143G>C (p.Gly48Ala) c.68G>C (p.Gly23Ala) c.-47G>C (n.-47G>C) c.284G>C (p.Gly95Ala) | |
| 14 | g.53952080C>T | CA389785487 | BMP4 | c.143G>A (p.Gly48Glu) c.68G>A (p.Gly23Glu) c.-47G>A (n.-47G>A) c.284G>A (p.Gly95Glu) | |
| 14 | g.53952081C>A | CA389785488 | BMP4 | c.142G>T (p.Gly48Trp) c.67G>T (p.Gly23Trp) c.-48G>T (n.-48G>T) c.283G>T (p.Gly95Trp) | |
| 14 | g.53952081C>G | CA389785489 | BMP4 | c.142G>C (p.Gly48Arg) c.67G>C (p.Gly23Arg) c.-48G>C (n.-48G>C) c.283G>C (p.Gly95Arg) | |
| 14 | g.53952081C>T | CA389785490 | BMP4 | c.142G>A (p.Gly48Arg) c.67G>A (p.Gly23Arg) c.-48G>A (n.-48G>A) c.283G>A (p.Gly95Arg) | |
| 14 | g.53952082T>A | CA486658878 | BMP4 | c.141A>T (p.Ser47=) c.66A>T (p.Ser22=) c.-49A>T (n.-49A>T) c.282A>T (p.Ser94=) | |
| 14 | g.53952082T>C | CA486658879 | BMP4 | c.141A>G (p.Ser47=) c.66A>G (p.Ser22=) c.-49A>G (n.-49A>G) c.282A>G (p.Ser94=) | |
| 14 | g.53952082T>G | CA486658880 | BMP4 | c.141A>C (p.Ser47=) c.66A>C (p.Ser22=) c.-49A>C (n.-49A>C) c.282A>C (p.Ser94=) | |
| 14 | g.53952083G>A | CA389785491 | BMP4 | c.140C>T (p.Ser47Leu) c.65C>T (p.Ser22Leu) c.-50C>T (n.-50C>T) c.281C>T (p.Ser94Leu) | dbSNP gnomAD v4 |
| 14 | g.53952083G>C | CA389785492 | BMP4 | c.140C>G (p.Ser47Ter) c.65C>G (p.Ser22Ter) c.-50C>G (n.-50C>G) c.281C>G (p.Ser94Ter) | |
| 14 | g.53952083G= | CA2137819379 | BMP4 | c.140C= (p.Ser47=) c.65C= (p.Ser22=) c.-50C= (n.-50C=) c.281C= (p.Ser94=) | |
| 14 | g.53952083G>T | CA389785493 | BMP4 | c.140C>A (p.Ser47Ter) c.65C>A (p.Ser22Ter) c.-50C>A (n.-50C>A) c.281C>A (p.Ser94Ter) | |
| 14 | g.53952084A>C | CA389785496 | BMP4 | c.139T>G (p.Ser47Ala) c.64T>G (p.Ser22Ala) c.-51T>G (n.-51T>G) c.280T>G (p.Ser94Ala) | |
| 14 | g.53952084A>G | CA389785495 | BMP4 | c.139T>C (p.Ser47Pro) c.64T>C (p.Ser22Pro) c.-51T>C (n.-51T>C) c.280T>C (p.Ser94Pro) | |
| 14 | g.53952084A>T | CA389785494 | BMP4 | c.139T>A (p.Ser47Thr) c.64T>A (p.Ser22Thr) c.-51T>A (n.-51T>A) c.280T>A (p.Ser94Thr) | |
| 14 | g.53952085G>A | CA486658883 | BMP4 | c.138C>T (p.Arg46=) c.63C>T (p.Arg21=) c.-52C>T (n.-52C>T) c.279C>T (p.Arg93=) | gnomAD v4 |
| 14 | g.53952085G>C | CA486658885 | BMP4 | c.138C>G (p.Arg46=) c.63C>G (p.Arg21=) c.-52C>G (n.-52C>G) c.279C>G (p.Arg93=) | |
| 14 | g.53952085G>T | CA486658884 | BMP4 | c.138C>A (p.Arg46=) c.63C>A (p.Arg21=) c.-52C>A (n.-52C>A) c.279C>A (p.Arg93=) | gnomAD v4 |
| 14 | g.53952086C>A | CA389785498 | BMP4 | c.137G>T (p.Arg46Leu) c.62G>T (p.Arg21Leu) c.-53G>T (n.-53G>T) c.278G>T (p.Arg93Leu) | gnomAD v4 |
| 14 | g.53952086C= | CA2137819381 | BMP4 | c.137G= (p.Arg46=) c.62G= (p.Arg21=) c.-53G= (n.-53G=) c.278G= (p.Arg93=) | |
| 14 | g.53952086C>G | CA389785497 | BMP4 | c.137G>C (p.Arg46Pro) c.62G>C (p.Arg21Pro) c.-53G>C (n.-53G>C) c.278G>C (p.Arg93Pro) | |
| 14 | g.53952086C>T | CA389785499 | BMP4 | c.137G>A (p.Arg46His) c.62G>A (p.Arg21His) c.-53G>A (n.-53G>A) c.278G>A (p.Arg93His) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.53952087G>A | CA389785500 | BMP4 | c.136C>T (p.Arg46Cys) c.61C>T (p.Arg21Cys) c.-54C>T (n.-54C>T) c.277C>T (p.Arg93Cys) | |
| 14 | g.53952087G>C | CA389785501 | BMP4 | c.136C>G (p.Arg46Gly) c.61C>G (p.Arg21Gly) c.-54C>G (n.-54C>G) c.277C>G (p.Arg93Gly) | |
| 14 | g.53952087G>T | CA389785502 | BMP4 | c.136C>A (p.Arg46Ser) c.61C>A (p.Arg21Ser) c.-54C>A (n.-54C>A) c.277C>A (p.Arg93Ser) | |
| 14 | g.53952088G>A | CA486658887 | BMP4 | c.135C>T (p.Arg45=) c.60C>T (p.Arg20=) c.-55C>T (n.-55C>T) c.276C>T (p.Arg92=) | |
| 14 | g.53952088G>C | CA486658889 | BMP4 | c.135C>G (p.Arg45=) c.60C>G (p.Arg20=) c.-55C>G (n.-55C>G) c.276C>G (p.Arg92=) | |
| 14 | g.53952088G>T | CA486658891 | BMP4 | c.135C>A (p.Arg45=) c.60C>A (p.Arg20=) c.-55C>A (n.-55C>A) c.276C>A (p.Arg92=) | COSMIC |
| 14 | g.53952089C>A | CA389785503 | BMP4 | c.134G>T (p.Arg45Leu) c.59G>T (p.Arg20Leu) c.-56G>T (n.-56G>T) c.275G>T (p.Arg92Leu) | |
| 14 | g.53952089C= | CA2137819384 | BMP4 | c.134G= (p.Arg45=) c.59G= (p.Arg20=) c.-56G= (n.-56G=) c.275G= (p.Arg92=) | |
| 14 | g.53952089C>G | CA389785504 | BMP4 | c.134G>C (p.Arg45Pro) c.59G>C (p.Arg20Pro) c.-56G>C (n.-56G>C) c.275G>C (p.Arg92Pro) | |
| 14 | g.53952089C>T | CA389785505 | BMP4 | c.134G>A (p.Arg45His) c.59G>A (p.Arg20His) c.-56G>A (n.-56G>A) c.275G>A (p.Arg92His) | dbSNP gnomAD v4 |
| 14 | g.53952090G>A | CA389785506 | BMP4 | c.133C>T (p.Arg45Cys) c.58C>T (p.Arg20Cys) c.-57C>T (n.-57C>T) c.274C>T (p.Arg92Cys) | |
| 14 | g.53952090G>C | CA389785507 | BMP4 | c.133C>G (p.Arg45Gly) c.58C>G (p.Arg20Gly) c.-57C>G (n.-57C>G) c.274C>G (p.Arg92Gly) | |
| 14 | g.53952090G>T | CA389785508 | BMP4 | c.133C>A (p.Arg45Ser) c.58C>A (p.Arg20Ser) c.-57C>A (n.-57C>A) c.274C>A (p.Arg92Ser) | gnomAD v4 |
| 14 | g.53952091T>A | CA486658892 | BMP4 | c.132A>T (p.Gly44=) c.57A>T (p.Gly19=) c.-58A>T (n.-58A>T) c.273A>T (p.Gly91=) | |
| 14 | g.53952091T>C | CA486658893 | BMP4 | c.132A>G (p.Gly44=) c.57A>G (p.Gly19=) c.-58A>G (n.-58A>G) c.273A>G (p.Gly91=) | |
| 14 | g.53952091T>G | CA486658894 | BMP4 | c.132A>C (p.Gly44=) c.57A>C (p.Gly19=) c.-58A>C (n.-58A>C) c.273A>C (p.Gly91=) | |
| 14 | g.53952092C>A | CA389785509 | BMP4 | c.131G>T (p.Gly44Val) c.56G>T (p.Gly19Val) c.-59G>T (n.-59G>T) c.272G>T (p.Gly91Val) | |
| 14 | g.53952092C= | CA2137819387 | BMP4 | c.131G= (p.Gly44=) c.56G= (p.Gly19=) c.-59G= (n.-59G=) c.272G= (p.Gly91=) | |
| 14 | g.53952092C>G | CA389785510 | BMP4 | c.131G>C (p.Gly44Ala) c.56G>C (p.Gly19Ala) c.-59G>C (n.-59G>C) c.272G>C (p.Gly91Ala) | |
| 14 | g.53952092C>T | CA389785511 | BMP4 | c.131G>A (p.Gly44Glu) c.56G>A (p.Gly19Glu) c.-59G>A (n.-59G>A) c.272G>A (p.Gly91Glu) | dbSNP |
| 14 | g.53952093C>A | CA389785514 | BMP4 | c.130G>T (p.Gly44Ter) c.55G>T (p.Gly19Ter) c.-60G>T (n.-60G>T) c.271G>T (p.Gly91Ter) | |
| 14 | g.53952093C>G | CA389785512 | BMP4 | c.130G>C (p.Gly44Arg) c.55G>C (p.Gly19Arg) c.-60G>C (n.-60G>C) c.271G>C (p.Gly91Arg) | |
| 14 | g.53952093C>T | CA389785513 | BMP4 | c.130G>A (p.Gly44Arg) c.55G>A (p.Gly19Arg) c.-60G>A (n.-60G>A) c.271G>A (p.Gly91Arg) | gnomAD v4 |
| 14 | g.53952094T>A | CA486658898 | BMP4 | c.129A>T (p.Gly43=) c.54A>T (p.Gly18=) c.-61A>T (n.-61A>T) c.270A>T (p.Gly90=) | |
| 14 | g.53952094T>C | CA486658896 | BMP4 | c.129A>G (p.Gly43=) c.54A>G (p.Gly18=) c.-61A>G (n.-61A>G) c.270A>G (p.Gly90=) | |
| 14 | g.53952094T>G | CA486658897 | BMP4 | c.129A>C (p.Gly43=) c.54A>C (p.Gly18=) c.-61A>C (n.-61A>C) c.270A>C (p.Gly90=) | |
| 14 | g.53952095C>A | CA389785515 | BMP4 | c.128G>T (p.Gly43Val) c.53G>T (p.Gly18Val) c.-62G>T (n.-62G>T) c.269G>T (p.Gly90Val) | |
| 14 | g.53952095C= | CA2137819392 | BMP4 | c.128G= (p.Gly43=) c.53G= (p.Gly18=) c.-62G= (n.-62G=) c.269G= (p.Gly90=) | |
| 14 | g.53952095C>G | CA389785516 | BMP4 | c.128G>C (p.Gly43Ala) c.53G>C (p.Gly18Ala) c.-62G>C (n.-62G>C) c.269G>C (p.Gly90Ala) | gnomAD v4 |
| 14 | g.53952095C>T | CA389785517 | BMP4 | c.128G>A (p.Gly43Glu) c.53G>A (p.Gly18Glu) c.-62G>A (n.-62G>A) c.269G>A (p.Gly90Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.53952096C>A | CA389785518 | BMP4 | c.127G>T (p.Gly43Ter) c.52G>T (p.Gly18Ter) c.-63G>T (n.-63G>T) c.268G>T (p.Gly90Ter) | |
| 14 | g.53952096C>G | CA389785519 | BMP4 | c.127G>C (p.Gly43Arg) c.52G>C (p.Gly18Arg) c.-63G>C (n.-63G>C) c.268G>C (p.Gly90Arg) | |
| 14 | g.53952096C>T | CA389785520 | BMP4 | c.127G>A (p.Gly43Arg) c.52G>A (p.Gly18Arg) c.-63G>A (n.-63G>A) c.268G>A (p.Gly90Arg) | |
| 14 | g.53952097C>A | CA486658899 | BMP4 | c.126G>T (p.Ala42=) c.51G>T (p.Ala17=) c.-64G>T (n.-64G>T) c.267G>T (p.Ala89=) | dbSNP |
| 14 | g.53952097C= | CA2137819395 | BMP4 | c.126G= (p.Ala42=) c.51G= (p.Ala17=) c.-64G= (n.-64G=) c.267G= (p.Ala89=) | |
| 14 | g.53952097C>G | CA486658900 | BMP4 | c.126G>C (p.Ala42=) c.51G>C (p.Ala17=) c.-64G>C (n.-64G>C) c.267G>C (p.Ala89=) | |
| 14 | g.53952097C>T | CA486658901 | BMP4 | c.126G>A (p.Ala42=) c.51G>A (p.Ala17=) c.-64G>A (n.-64G>A) c.267G>A (p.Ala89=) | |
| 14 | g.53952098G>A | CA389785521 | BMP4 | c.125C>T (p.Ala42Val) c.50C>T (p.Ala17Val) c.-65C>T (n.-65C>T) c.266C>T (p.Ala89Val) | |
| 14 | g.53952098G>C | CA389785522 | BMP4 | c.125C>G (p.Ala42Gly) c.50C>G (p.Ala17Gly) c.-65C>G (n.-65C>G) c.266C>G (p.Ala89Gly) | |
| 14 | g.53952098G= | CA2137819397 | BMP4 | c.125C= (p.Ala42=) c.50C= (p.Ala17=) c.-65C= (n.-65C=) c.266C= (p.Ala89=) | |
| 14 | g.53952098G>T | CA389785523 | BMP4 | c.125C>A (p.Ala42Glu) c.50C>A (p.Ala17Glu) c.-65C>A (n.-65C>A) c.266C>A (p.Ala89Glu) | dbSNP gnomAD v4 |
| 14 | g.53952099C>A | CA389785524 | BMP4 | c.124G>T (p.Ala42Ser) c.49G>T (p.Ala17Ser) c.-66G>T (n.-66G>T) c.265G>T (p.Ala89Ser) | dbSNP gnomAD v4 |
| 14 | g.53952099C= | CA2137819400 | BMP4 | c.124G= (p.Ala42=) c.49G= (p.Ala17=) c.-66G= (n.-66G=) c.265G= (p.Ala89=) | |
| 14 | g.53952099C>G | CA7191822 | BMP4 | c.124G>C (p.Ala42Pro) c.49G>C (p.Ala17Pro) c.-66G>C (n.-66G>C) c.265G>C (p.Ala89Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.53952099C>T | CA389785525 | BMP4 | c.124G>A (p.Ala42Thr) c.49G>A (p.Ala17Thr) c.-66G>A (n.-66G>A) c.265G>A (p.Ala89Thr) | gnomAD v4 |
| 14 | g.53952100G>A | CA261472788 | BMP4 | c.123C>T (p.His41=) c.48C>T (p.His16=) c.-67C>T (n.-67C>T) c.264C>T (p.His88=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.53952100G>C | CA7191823 | BMP4 | c.123C>G (p.His41Gln) c.48C>G (p.His16Gln) c.-67C>G (n.-67C>G) c.264C>G (p.His88Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.53952100G= | CA2137819405 | BMP4 | c.123C= (p.His41=) c.48C= (p.His16=) c.-67C= (n.-67C=) c.264C= (p.His88=) | |
| 14 | g.53952100G>T | CA389785526 | BMP4 | c.123C>A (p.His41Gln) c.48C>A (p.His16Gln) c.-67C>A (n.-67C>A) c.264C>A (p.His88Gln) | |
| 14 | g.53952101T>A | CA389785527 | BMP4 | c.122A>T (p.His41Leu) c.47A>T (p.His16Leu) c.-68A>T (n.-68A>T) c.263A>T (p.His88Leu) | |
| 14 | g.53952101T>C | CA389785528 | BMP4 | c.122A>G (p.His41Arg) c.47A>G (p.His16Arg) c.-68A>G (n.-68A>G) c.263A>G (p.His88Arg) | |
| 14 | g.53952101T>G | CA389785529 | BMP4 | c.122A>C (p.His41Pro) c.47A>C (p.His16Pro) c.-68A>C (n.-68A>C) c.263A>C (p.His88Pro) | |
| 14 | g.53952102G>A | CA389785530 | BMP4 | c.121C>T (p.His41Tyr) c.46C>T (p.His16Tyr) c.-69C>T (n.-69C>T) c.262C>T (p.His88Tyr) | dbSNP |
| 14 | g.53952102G>C | CA389785531 | BMP4 | c.121C>G (p.His41Asp) c.46C>G (p.His16Asp) c.-69C>G (n.-69C>G) c.262C>G (p.His88Asp) | |
| 14 | g.53952102G= | CA2137819409 | BMP4 | c.121C= (p.His41=) c.46C= (p.His16=) c.-69C= (n.-69C=) c.262C= (p.His88=) | |
| 14 | g.53952102G>T | CA389785532 | BMP4 | c.121C>A (p.His41Asn) c.46C>A (p.His16Asn) c.-69C>A (n.-69C>A) c.262C>A (p.His88Asn) | |
| 14 | g.53952103G>A | CA486658905 | BMP4 | c.120C>T (p.Gly40=) c.45C>T (p.Gly15=) c.-70C>T (n.-70C>T) c.261C>T (p.Gly87=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.53952103G>C | CA486658906 | BMP4 | c.120C>G (p.Gly40=) c.45C>G (p.Gly15=) c.-70C>G (n.-70C>G) c.261C>G (p.Gly87=) | |
| 14 | g.53952103G= | CA2137819411 | BMP4 | c.120C= (p.Gly40=) c.45C= (p.Gly15=) c.-70C= (n.-70C=) c.261C= (p.Gly87=) | |
| 14 | g.53952103G>T | CA486658907 | BMP4 | c.120C>A (p.Gly40=) c.45C>A (p.Gly15=) c.-70C>A (n.-70C>A) c.261C>A (p.Gly87=) | |
| 14 | g.53952104C>A | CA389785534 | BMP4 | c.119G>T (p.Gly40Val) c.44G>T (p.Gly15Val) c.-71G>T (n.-71G>T) c.260G>T (p.Gly87Val) | |
| 14 | g.53952104C= | CA2137819413 | BMP4 | c.119G= (p.Gly40=) c.44G= (p.Gly15=) c.-71G= (n.-71G=) c.260G= (p.Gly87=) | |
| 14 | g.53952104C>G | CA389785533 | BMP4 | c.119G>C (p.Gly40Ala) c.44G>C (p.Gly15Ala) c.-71G>C (n.-71G>C) c.260G>C (p.Gly87Ala) | |
| 14 | g.53952104C>T | CA7191824 | BMP4 | c.119G>A (p.Gly40Asp) c.44G>A (p.Gly15Asp) c.-71G>A (n.-71G>A) c.260G>A (p.Gly87Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.53952105C>A | CA389785535 | BMP4 | c.118G>T (p.Gly40Cys) c.43G>T (p.Gly15Cys) c.-72G>T (n.-72G>T) c.259G>T (p.Gly87Cys) | |
| 14 | g.53952105C= | CA2137819416 | BMP4 | c.118G= (p.Gly40=) c.43G= (p.Gly15=) c.-72G= (n.-72G=) c.259G= (p.Gly87=) | |
| 14 | g.53952105C>G | CA389785536 | BMP4 | c.118G>C (p.Gly40Arg) c.43G>C (p.Gly15Arg) c.-72G>C (n.-72G>C) c.259G>C (p.Gly87Arg) | |
| 14 | g.53952105C>T | CA7191825 | BMP4 | c.118G>A (p.Gly40Ser) c.43G>A (p.Gly15Ser) c.-72G>A (n.-72G>A) c.259G>A (p.Gly87Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.53952106C>A | CA389785537 | BMP4 | c.117G>T (p.Gln39His) c.42G>T (p.Gln14His) c.-73G>T (n.-73G>T) c.258G>T (p.Gln86His) | |
| 14 | g.53952106C>G | CA389785538 | BMP4 | c.117G>C (p.Gln39His) c.42G>C (p.Gln14His) c.-73G>C (n.-73G>C) c.258G>C (p.Gln86His) | |
| 14 | g.53952106C>T | CA486658908 | BMP4 | c.117G>A (p.Gln39=) c.42G>A (p.Gln14=) c.-73G>A (n.-73G>A) c.258G>A (p.Gln86=) | |
| 14 | g.53952107T>A | CA389785539 | BMP4 | c.116A>T (p.Gln39Leu) c.41A>T (p.Gln14Leu) c.-74A>T (n.-74A>T) c.257A>T (p.Gln86Leu) | |
| 14 | g.53952107T>C | CA389785541 | BMP4 | c.116A>G (p.Gln39Arg) c.41A>G (p.Gln14Arg) c.-74A>G (n.-74A>G) c.257A>G (p.Gln86Arg) | |
| 14 | g.53952107T>G | CA389785540 | BMP4 | c.116A>C (p.Gln39Pro) c.41A>C (p.Gln14Pro) c.-74A>C (n.-74A>C) c.257A>C (p.Gln86Pro) | |
| 14 | g.53952108G>A | CA389785542 | BMP4 | c.115C>T (p.Gln39Ter) c.40C>T (p.Gln14Ter) c.-75C>T (n.-75C>T) c.256C>T (p.Gln86Ter) | COSMIC |
| 14 | g.53952108G>C | CA389785543 | BMP4 | c.115C>G (p.Gln39Glu) c.40C>G (p.Gln14Glu) c.-75C>G (n.-75C>G) c.256C>G (p.Gln86Glu) | |
| 14 | g.53952108G>T | CA389785544 | BMP4 | c.115C>A (p.Gln39Lys) c.40C>A (p.Gln14Lys) c.-75C>A (n.-75C>A) c.256C>A (p.Gln86Lys) | gnomAD v4 |
| 14 | g.53952109A>C | CA389785545 | BMP4 | c.114T>G (p.Ile38Met) c.39T>G (p.Ile13Met) c.-76T>G (n.-76T>G) c.255T>G (p.Ile85Met) | gnomAD v4 |
| 14 | g.53952109A>G | CA486658911 | BMP4 | c.114T>C (p.Ile38=) c.39T>C (p.Ile13=) c.-76T>C (n.-76T>C) c.255T>C (p.Ile85=) | |
| 14 | g.53952109A>T | CA486658912 | BMP4 | c.114T>A (p.Ile38=) c.39T>A (p.Ile13=) c.-76T>A (n.-76T>A) c.255T>A (p.Ile85=) | |
| 14 | g.53952110A= | CA2137819419 | BMP4 | c.113T= (p.Ile38=) c.38T= (p.Ile13=) c.-77T= (n.-77T=) c.254T= (p.Ile85=) | |
| 14 | g.53952110A>C | CA389785546 | BMP4 | c.113T>G (p.Ile38Ser) c.38T>G (p.Ile13Ser) c.-77T>G (n.-77T>G) c.254T>G (p.Ile85Ser) | |
| 14 | g.53952110A>G | CA389785547 | BMP4 | c.113T>C (p.Ile38Thr) c.38T>C (p.Ile13Thr) c.-77T>C (n.-77T>C) c.254T>C (p.Ile85Thr) | dbSNP |
| 14 | g.53952110A>T | CA389785548 | BMP4 | c.113T>A (p.Ile38Asn) c.38T>A (p.Ile13Asn) c.-77T>A (n.-77T>A) c.254T>A (p.Ile85Asn) | |
| 14 | g.53952111T>A | CA389785549 | BMP4 | c.112A>T (p.Ile38Phe) c.37A>T (p.Ile13Phe) c.-78A>T (n.-78A>T) c.253A>T (p.Ile85Phe) | |
| 14 | g.53952111T>C | CA389785550 | BMP4 | c.112A>G (p.Ile38Val) c.37A>G (p.Ile13Val) c.-78A>G (n.-78A>G) c.253A>G (p.Ile85Val) | |
| 14 | g.53952111T>G | CA389785551 | BMP4 | c.112A>C (p.Ile38Leu) c.37A>C (p.Ile13Leu) c.-78A>C (n.-78A>C) c.253A>C (p.Ile85Leu) | |
| 14 | g.53952112C>A | CA389785552 | BMP4 | c.111G>T (p.Glu37Asp) c.36G>T (p.Glu12Asp) c.-79G>T (n.-79G>T) c.252G>T (p.Glu84Asp) | |
| 14 | g.53952112C= | CA2137819422 | BMP4 | c.111G= (p.Glu37=) c.36G= (p.Glu12=) c.-79G= (n.-79G=) c.252G= (p.Glu84=) | |
| 14 | g.53952112C>G | CA7191826 | BMP4 | c.111G>C (p.Glu37Asp) c.36G>C (p.Glu12Asp) c.-79G>C (n.-79G>C) c.252G>C (p.Glu84Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.53952112C>T | CA486658913 | BMP4 | c.111G>A (p.Glu37=) c.36G>A (p.Glu12=) c.-79G>A (n.-79G>A) c.252G>A (p.Glu84=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.53952113T>A | CA389785554 | BMP4 | c.110A>T (p.Glu37Val) c.35A>T (p.Glu12Val) c.-80A>T (n.-80A>T) c.251A>T (p.Glu84Val) | |
| 14 | g.53952113T>C | CA7191827 | BMP4 | c.110A>G (p.Glu37Gly) c.35A>G (p.Glu12Gly) c.-80A>G (n.-80A>G) c.251A>G (p.Glu84Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.53952113T>G | CA389785553 | BMP4 | c.110A>C (p.Glu37Ala) c.35A>C (p.Glu12Ala) c.-80A>C (n.-80A>C) c.251A>C (p.Glu84Ala) | |
| 14 | g.53952113T= | CA2137819427 | BMP4 | c.110A= (p.Glu37=) c.35A= (p.Glu12=) c.-80A= (n.-80A=) c.251A= (p.Glu84=) | |
| 14 | g.53952114C>A | CA389785555 | BMP4 | c.109G>T (p.Glu37Ter) c.34G>T (p.Glu12Ter) c.-81G>T (n.-81G>T) c.250G>T (p.Glu84Ter) | |
| 14 | g.53952114C>G | CA389785557 | BMP4 | c.109G>C (p.Glu37Gln) c.34G>C (p.Glu12Gln) c.-81G>C (n.-81G>C) c.250G>C (p.Glu84Gln) | |
| 14 | g.53952114C>T | CA389785556 | BMP4 | c.109G>A (p.Glu37Lys) c.34G>A (p.Glu12Lys) c.-81G>A (n.-81G>A) c.250G>A (p.Glu84Lys) | |
| 14 | g.53952115G>A | CA7191828 | BMP4 | c.108C>T (p.Ala36=) c.33C>T (p.Ala11=) c.-82C>T (n.-82C>T) c.249C>T (p.Ala83=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.53952115G>C | CA7191829 | BMP4 | c.108C>G (p.Ala36=) c.33C>G (p.Ala11=) c.-82C>G (n.-82C>G) c.249C>G (p.Ala83=) | dbSNP ExAC gnomAD v2 |
| 14 | g.53952115G= | CA2137819432 | BMP4 | c.108C= (p.Ala36=) c.33C= (p.Ala11=) c.-82C= (n.-82C=) c.249C= (p.Ala83=) | |
| 14 | g.53952115G>T | CA486658916 | BMP4 | c.108C>A (p.Ala36=) c.33C>A (p.Ala11=) c.-82C>A (n.-82C>A) c.249C>A (p.Ala83=) | |
| 14 | g.53952116G>A | CA389785558 | BMP4 | c.107C>T (p.Ala36Val) c.32C>T (p.Ala11Val) c.-83C>T (n.-83C>T) c.248C>T (p.Ala83Val) | |
| 14 | g.53952116G>C | CA389785560 | BMP4 | c.107C>G (p.Ala36Gly) c.32C>G (p.Ala11Gly) c.-83C>G (n.-83C>G) c.248C>G (p.Ala83Gly) | |
| 14 | g.53952116G>T | CA389785559 | BMP4 | c.107C>A (p.Ala36Asp) c.32C>A (p.Ala11Asp) c.-83C>A (n.-83C>A) c.248C>A (p.Ala83Asp) | |
| 14 | g.53952117C>A | CA7191831 | BMP4 | c.106G>T (p.Ala36Ser) c.31G>T (p.Ala11Ser) c.-84G>T (n.-84G>T) c.247G>T (p.Ala83Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.53952117C= | CA2137819437 | BMP4 | c.106G= (p.Ala36=) c.31G= (p.Ala11=) c.-84G= (n.-84G=) c.247G= (p.Ala83=) | |
| 14 | g.53952117C>G | CA389785561 | BMP4 | c.106G>C (p.Ala36Pro) c.31G>C (p.Ala11Pro) c.-84G>C (n.-84G>C) c.247G>C (p.Ala83Pro) | |
| 14 | g.53952117C>T | CA7191830 | BMP4 | c.106G>A (p.Ala36Thr) c.31G>A (p.Ala11Thr) c.-84G>A (n.-84G>A) c.247G>A (p.Ala83Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.53952117_53952118insCCT | CA7191832 | BMP4 | c.105_106insAGG (p.Val35_Ala36insArg) c.30_31insAGG (p.Val10_Ala11insArg) c.-85_-84insAGG (n.-85_-84insAGG) c.246_247insAGG (p.Val82_Ala83insArg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.53952118G>A | CA486658918 | BMP4 | c.105C>T (p.Val35=) c.30C>T (p.Val10=) c.-85C>T (n.-85C>T) c.246C>T (p.Val82=) | gnomAD v4 |
| 14 | g.53952118G>C | CA486658919 | BMP4 | c.105C>G (p.Val35=) c.30C>G (p.Val10=) c.-85C>G (n.-85C>G) c.246C>G (p.Val82=) | dbSNP gnomAD v4 |
| 14 | g.53952118G= | CA2137819442 | BMP4 | c.105C= (p.Val35=) c.30C= (p.Val10=) c.-85C= (n.-85C=) c.246C= (p.Val82=) | |
| 14 | g.53952118G>T | CA486658920 | BMP4 | c.105C>A (p.Val35=) c.30C>A (p.Val10=) c.-85C>A (n.-85C>A) c.246C>A (p.Val82=) |