Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.53952096C>ACA389785518BMP4c.127G>T (p.Gly43Ter)
c.52G>T (p.Gly18Ter)
c.-63G>T (n.-63G>T)
c.268G>T (p.Gly90Ter)
14g.53952096C>GCA389785519BMP4c.127G>C (p.Gly43Arg)
c.52G>C (p.Gly18Arg)
c.-63G>C (n.-63G>C)
c.268G>C (p.Gly90Arg)
14g.53952096C>TCA389785520BMP4c.127G>A (p.Gly43Arg)
c.52G>A (p.Gly18Arg)
c.-63G>A (n.-63G>A)
c.268G>A (p.Gly90Arg)
14g.53952097C>ACA486658899BMP4c.126G>T (p.Ala42=)
c.51G>T (p.Ala17=)
c.-64G>T (n.-64G>T)
c.267G>T (p.Ala89=)
 dbSNP
14g.53952097C=CA2137819395BMP4c.126G= (p.Ala42=)
c.51G= (p.Ala17=)
c.-64G= (n.-64G=)
c.267G= (p.Ala89=)
14g.53952097C>GCA486658900BMP4c.126G>C (p.Ala42=)
c.51G>C (p.Ala17=)
c.-64G>C (n.-64G>C)
c.267G>C (p.Ala89=)
14g.53952097C>TCA486658901BMP4c.126G>A (p.Ala42=)
c.51G>A (p.Ala17=)
c.-64G>A (n.-64G>A)
c.267G>A (p.Ala89=)
14g.53952098G>ACA389785521BMP4c.125C>T (p.Ala42Val)
c.50C>T (p.Ala17Val)
c.-65C>T (n.-65C>T)
c.266C>T (p.Ala89Val)
14g.53952098G>CCA389785522BMP4c.125C>G (p.Ala42Gly)
c.50C>G (p.Ala17Gly)
c.-65C>G (n.-65C>G)
c.266C>G (p.Ala89Gly)
14g.53952098G=CA2137819397BMP4c.125C= (p.Ala42=)
c.50C= (p.Ala17=)
c.-65C= (n.-65C=)
c.266C= (p.Ala89=)
14g.53952098G>TCA389785523BMP4c.125C>A (p.Ala42Glu)
c.50C>A (p.Ala17Glu)
c.-65C>A (n.-65C>A)
c.266C>A (p.Ala89Glu)
 dbSNP gnomAD v4
14g.53952099C>ACA389785524BMP4c.124G>T (p.Ala42Ser)
c.49G>T (p.Ala17Ser)
c.-66G>T (n.-66G>T)
c.265G>T (p.Ala89Ser)
 dbSNP gnomAD v4
14g.53952099C=CA2137819400BMP4c.124G= (p.Ala42=)
c.49G= (p.Ala17=)
c.-66G= (n.-66G=)
c.265G= (p.Ala89=)
14g.53952099C>GCA7191822BMP4c.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
14g.53952099C>TCA389785525BMP4c.124G>A (p.Ala42Thr)
c.49G>A (p.Ala17Thr)
c.-66G>A (n.-66G>A)
c.265G>A (p.Ala89Thr)
 gnomAD v4
14g.53952100G>ACA261472788BMP4c.123C>T (p.His41=)
c.48C>T (p.His16=)
c.-67C>T (n.-67C>T)
c.264C>T (p.His88=)
 ClinVar dbSNP gnomAD v4
14g.53952100G>CCA7191823BMP4c.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
14g.53952100G=CA2137819405BMP4c.123C= (p.His41=)
c.48C= (p.His16=)
c.-67C= (n.-67C=)
c.264C= (p.His88=)
14g.53952100G>TCA389785526BMP4c.123C>A (p.His41Gln)
c.48C>A (p.His16Gln)
c.-67C>A (n.-67C>A)
c.264C>A (p.His88Gln)
14g.53952101T>ACA389785527BMP4c.122A>T (p.His41Leu)
c.47A>T (p.His16Leu)
c.-68A>T (n.-68A>T)
c.263A>T (p.His88Leu)
14g.53952101T>CCA389785528BMP4c.122A>G (p.His41Arg)
c.47A>G (p.His16Arg)
c.-68A>G (n.-68A>G)
c.263A>G (p.His88Arg)
14g.53952101T>GCA389785529BMP4c.122A>C (p.His41Pro)
c.47A>C (p.His16Pro)
c.-68A>C (n.-68A>C)
c.263A>C (p.His88Pro)
14g.53952102G>ACA389785530BMP4c.121C>T (p.His41Tyr)
c.46C>T (p.His16Tyr)
c.-69C>T (n.-69C>T)
c.262C>T (p.His88Tyr)
 dbSNP
14g.53952102G>CCA389785531BMP4c.121C>G (p.His41Asp)
c.46C>G (p.His16Asp)
c.-69C>G (n.-69C>G)
c.262C>G (p.His88Asp)
14g.53952102G=CA2137819409BMP4c.121C= (p.His41=)
c.46C= (p.His16=)
c.-69C= (n.-69C=)
c.262C= (p.His88=)
14g.53952102G>TCA389785532BMP4c.121C>A (p.His41Asn)
c.46C>A (p.His16Asn)
c.-69C>A (n.-69C>A)
c.262C>A (p.His88Asn)
14g.53952103G>ACA486658905BMP4c.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
14g.53952103G>CCA486658906BMP4c.120C>G (p.Gly40=)
c.45C>G (p.Gly15=)
c.-70C>G (n.-70C>G)
c.261C>G (p.Gly87=)
14g.53952103G=CA2137819411BMP4c.120C= (p.Gly40=)
c.45C= (p.Gly15=)
c.-70C= (n.-70C=)
c.261C= (p.Gly87=)
14g.53952103G>TCA486658907BMP4c.120C>A (p.Gly40=)
c.45C>A (p.Gly15=)
c.-70C>A (n.-70C>A)
c.261C>A (p.Gly87=)
14g.53952104C>ACA389785534BMP4c.119G>T (p.Gly40Val)
c.44G>T (p.Gly15Val)
c.-71G>T (n.-71G>T)
c.260G>T (p.Gly87Val)
14g.53952104C=CA2137819413BMP4c.119G= (p.Gly40=)
c.44G= (p.Gly15=)
c.-71G= (n.-71G=)
c.260G= (p.Gly87=)
14g.53952104C>GCA389785533BMP4c.119G>C (p.Gly40Ala)
c.44G>C (p.Gly15Ala)
c.-71G>C (n.-71G>C)
c.260G>C (p.Gly87Ala)
14g.53952104C>TCA7191824BMP4c.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
14g.53952105C>ACA389785535BMP4c.118G>T (p.Gly40Cys)
c.43G>T (p.Gly15Cys)
c.-72G>T (n.-72G>T)
c.259G>T (p.Gly87Cys)
14g.53952105C=CA2137819416BMP4c.118G= (p.Gly40=)
c.43G= (p.Gly15=)
c.-72G= (n.-72G=)
c.259G= (p.Gly87=)
14g.53952105C>GCA389785536BMP4c.118G>C (p.Gly40Arg)
c.43G>C (p.Gly15Arg)
c.-72G>C (n.-72G>C)
c.259G>C (p.Gly87Arg)
14g.53952105C>TCA7191825BMP4c.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
14g.53952106C>ACA389785537BMP4c.117G>T (p.Gln39His)
c.42G>T (p.Gln14His)
c.-73G>T (n.-73G>T)
c.258G>T (p.Gln86His)
14g.53952106C>GCA389785538BMP4c.117G>C (p.Gln39His)
c.42G>C (p.Gln14His)
c.-73G>C (n.-73G>C)
c.258G>C (p.Gln86His)
14g.53952106C>TCA486658908BMP4c.117G>A (p.Gln39=)
c.42G>A (p.Gln14=)
c.-73G>A (n.-73G>A)
c.258G>A (p.Gln86=)
14g.53952107T>ACA389785539BMP4c.116A>T (p.Gln39Leu)
c.41A>T (p.Gln14Leu)
c.-74A>T (n.-74A>T)
c.257A>T (p.Gln86Leu)
14g.53952107T>CCA389785541BMP4c.116A>G (p.Gln39Arg)
c.41A>G (p.Gln14Arg)
c.-74A>G (n.-74A>G)
c.257A>G (p.Gln86Arg)
14g.53952107T>GCA389785540BMP4c.116A>C (p.Gln39Pro)
c.41A>C (p.Gln14Pro)
c.-74A>C (n.-74A>C)
c.257A>C (p.Gln86Pro)
14g.53952108G>ACA389785542BMP4c.115C>T (p.Gln39Ter)
c.40C>T (p.Gln14Ter)
c.-75C>T (n.-75C>T)
c.256C>T (p.Gln86Ter)
 COSMIC
14g.53952108G>CCA389785543BMP4c.115C>G (p.Gln39Glu)
c.40C>G (p.Gln14Glu)
c.-75C>G (n.-75C>G)
c.256C>G (p.Gln86Glu)
14g.53952108G>TCA389785544BMP4c.115C>A (p.Gln39Lys)
c.40C>A (p.Gln14Lys)
c.-75C>A (n.-75C>A)
c.256C>A (p.Gln86Lys)
 gnomAD v4
14g.53952109A>CCA389785545BMP4c.114T>G (p.Ile38Met)
c.39T>G (p.Ile13Met)
c.-76T>G (n.-76T>G)
c.255T>G (p.Ile85Met)
 gnomAD v4
14g.53952109A>GCA486658911BMP4c.114T>C (p.Ile38=)
c.39T>C (p.Ile13=)
c.-76T>C (n.-76T>C)
c.255T>C (p.Ile85=)
14g.53952109A>TCA486658912BMP4c.114T>A (p.Ile38=)
c.39T>A (p.Ile13=)
c.-76T>A (n.-76T>A)
c.255T>A (p.Ile85=)
14g.53952110A=CA2137819419BMP4c.113T= (p.Ile38=)
c.38T= (p.Ile13=)
c.-77T= (n.-77T=)
c.254T= (p.Ile85=)
14g.53952110A>CCA389785546BMP4c.113T>G (p.Ile38Ser)
c.38T>G (p.Ile13Ser)
c.-77T>G (n.-77T>G)
c.254T>G (p.Ile85Ser)
14g.53952110A>GCA389785547BMP4c.113T>C (p.Ile38Thr)
c.38T>C (p.Ile13Thr)
c.-77T>C (n.-77T>C)
c.254T>C (p.Ile85Thr)
 dbSNP
14g.53952110A>TCA389785548BMP4c.113T>A (p.Ile38Asn)
c.38T>A (p.Ile13Asn)
c.-77T>A (n.-77T>A)
c.254T>A (p.Ile85Asn)
14g.53952111T>ACA389785549BMP4c.112A>T (p.Ile38Phe)
c.37A>T (p.Ile13Phe)
c.-78A>T (n.-78A>T)
c.253A>T (p.Ile85Phe)
14g.53952111T>CCA389785550BMP4c.112A>G (p.Ile38Val)
c.37A>G (p.Ile13Val)
c.-78A>G (n.-78A>G)
c.253A>G (p.Ile85Val)
14g.53952111T>GCA389785551BMP4c.112A>C (p.Ile38Leu)
c.37A>C (p.Ile13Leu)
c.-78A>C (n.-78A>C)
c.253A>C (p.Ile85Leu)
14g.53952112C>ACA389785552BMP4c.111G>T (p.Glu37Asp)
c.36G>T (p.Glu12Asp)
c.-79G>T (n.-79G>T)
c.252G>T (p.Glu84Asp)
14g.53952112C=CA2137819422BMP4c.111G= (p.Glu37=)
c.36G= (p.Glu12=)
c.-79G= (n.-79G=)
c.252G= (p.Glu84=)
14g.53952112C>GCA7191826BMP4c.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
14g.53952112C>TCA486658913BMP4c.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
14g.53952113T>ACA389785554BMP4c.110A>T (p.Glu37Val)
c.35A>T (p.Glu12Val)
c.-80A>T (n.-80A>T)
c.251A>T (p.Glu84Val)
14g.53952113T>CCA7191827BMP4c.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
14g.53952113T>GCA389785553BMP4c.110A>C (p.Glu37Ala)
c.35A>C (p.Glu12Ala)
c.-80A>C (n.-80A>C)
c.251A>C (p.Glu84Ala)
14g.53952113T=CA2137819427BMP4c.110A= (p.Glu37=)
c.35A= (p.Glu12=)
c.-80A= (n.-80A=)
c.251A= (p.Glu84=)
14g.53952114C>ACA389785555BMP4c.109G>T (p.Glu37Ter)
c.34G>T (p.Glu12Ter)
c.-81G>T (n.-81G>T)
c.250G>T (p.Glu84Ter)
14g.53952114C>GCA389785557BMP4c.109G>C (p.Glu37Gln)
c.34G>C (p.Glu12Gln)
c.-81G>C (n.-81G>C)
c.250G>C (p.Glu84Gln)
14g.53952114C>TCA389785556BMP4c.109G>A (p.Glu37Lys)
c.34G>A (p.Glu12Lys)
c.-81G>A (n.-81G>A)
c.250G>A (p.Glu84Lys)
14g.53952115G>ACA7191828BMP4c.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
14g.53952115G>CCA7191829BMP4c.108C>G (p.Ala36=)
c.33C>G (p.Ala11=)
c.-82C>G (n.-82C>G)
c.249C>G (p.Ala83=)
 dbSNP ExAC gnomAD v2
14g.53952115G=CA2137819432BMP4c.108C= (p.Ala36=)
c.33C= (p.Ala11=)
c.-82C= (n.-82C=)
c.249C= (p.Ala83=)
14g.53952115G>TCA486658916BMP4c.108C>A (p.Ala36=)
c.33C>A (p.Ala11=)
c.-82C>A (n.-82C>A)
c.249C>A (p.Ala83=)
14g.53952116G>ACA389785558BMP4c.107C>T (p.Ala36Val)
c.32C>T (p.Ala11Val)
c.-83C>T (n.-83C>T)
c.248C>T (p.Ala83Val)
14g.53952116G>CCA389785560BMP4c.107C>G (p.Ala36Gly)
c.32C>G (p.Ala11Gly)
c.-83C>G (n.-83C>G)
c.248C>G (p.Ala83Gly)
14g.53952116G>TCA389785559BMP4c.107C>A (p.Ala36Asp)
c.32C>A (p.Ala11Asp)
c.-83C>A (n.-83C>A)
c.248C>A (p.Ala83Asp)
14g.53952117C>ACA7191831BMP4c.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
14g.53952117C=CA2137819437BMP4c.106G= (p.Ala36=)
c.31G= (p.Ala11=)
c.-84G= (n.-84G=)
c.247G= (p.Ala83=)
14g.53952117C>GCA389785561BMP4c.106G>C (p.Ala36Pro)
c.31G>C (p.Ala11Pro)
c.-84G>C (n.-84G>C)
c.247G>C (p.Ala83Pro)
14g.53952117C>TCA7191830BMP4c.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
14g.53952117_53952118insCCTCA7191832BMP4c.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
14g.53952118G>ACA486658918BMP4c.105C>T (p.Val35=)
c.30C>T (p.Val10=)
c.-85C>T (n.-85C>T)
c.246C>T (p.Val82=)
 gnomAD v4
14g.53952118G>CCA486658919BMP4c.105C>G (p.Val35=)
c.30C>G (p.Val10=)
c.-85C>G (n.-85C>G)
c.246C>G (p.Val82=)
 dbSNP gnomAD v4
14g.53952118G=CA2137819442BMP4c.105C= (p.Val35=)
c.30C= (p.Val10=)
c.-85C= (n.-85C=)
c.246C= (p.Val82=)
14g.53952118G>TCA486658920BMP4c.105C>A (p.Val35=)
c.30C>A (p.Val10=)
c.-85C>A (n.-85C>A)
c.246C>A (p.Val82=)
14g.53952119A=CA2137819445BMP4c.104T= (p.Val35=)
c.29T= (p.Val10=)
c.-86T= (n.-86T=)
c.245T= (p.Val82=)
14g.53952119A>CCA389785562BMP4c.104T>G (p.Val35Gly)
c.29T>G (p.Val10Gly)
c.-86T>G (n.-86T>G)
c.245T>G (p.Val82Gly)
14g.53952119A>GCA389785563BMP4c.104T>C (p.Val35Ala)
c.29T>C (p.Val10Ala)
c.-86T>C (n.-86T>C)
c.245T>C (p.Val82Ala)
14g.53952119A>TCA389785564BMP4c.104T>A (p.Val35Asp)
c.29T>A (p.Val10Asp)
c.-86T>A (n.-86T>A)
c.245T>A (p.Val82Asp)
14g.53952119_53952120insATCA7191833BMP4c.103_104insAT (p.Val35AspfsTer?)
c.28_29insAT (p.Val10AspfsTer?)
c.-87_-86insAT (n.-87_-86insAT)
c.244_245insAT (p.Val82AspfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53952120C>ACA389785565BMP4c.103G>T (p.Val35Phe)
c.28G>T (p.Val10Phe)
c.-87G>T (n.-87G>T)
c.244G>T (p.Val82Phe)
14g.53952120C>GCA389785566BMP4c.103G>C (p.Val35Leu)
c.28G>C (p.Val10Leu)
c.-87G>C (n.-87G>C)
c.244G>C (p.Val82Leu)
 dbSNP
14g.53952120C>TCA389785567BMP4c.103G>A (p.Val35Ile)
c.28G>A (p.Val10Ile)
c.-87G>A (n.-87G>A)
c.244G>A (p.Val82Ile)
14g.53952123_53952129delCA2624918698BMP4c.97_103del (p.Lys33SerfsTer?)
c.22_28del (p.Lys8SerfsTer?)
c.-93_-87del (n.-93_-87del)
c.238_244del (p.Lys80SerfsTer?)
 gnomAD v4
14g.53952121T>ACA389785569BMP4c.102A>T (p.Lys34Asn)
c.27A>T (p.Lys9Asn)
c.-88A>T (n.-88A>T)
c.243A>T (p.Lys81Asn)
 gnomAD v4
14g.53952121T>CCA486658921BMP4c.102A>G (p.Lys34=)
c.27A>G (p.Lys9=)
c.-88A>G (n.-88A>G)
c.243A>G (p.Lys81=)
 gnomAD v4
14g.53952121T>GCA389785568BMP4c.102A>C (p.Lys34Asn)
c.27A>C (p.Lys9Asn)
c.-88A>C (n.-88A>C)
c.243A>C (p.Lys81Asn)
14g.53952126dupCA645578289BMP4c.102dup (p.Val35SerfsTer18)
c.27dup (p.Val10SerfsTer18)
c.-88dup (n.-88dup)
c.243dup (p.Val82SerfsTer18)
 COSMIC
14g.53952122T>ACA389785570BMP4c.101A>T (p.Lys34Ile)
c.26A>T (p.Lys9Ile)
c.-89A>T (n.-89A>T)
c.242A>T (p.Lys81Ile)
 dbSNP
14g.53952122T>CCA389785571BMP4c.101A>G (p.Lys34Arg)
c.26A>G (p.Lys9Arg)
c.-89A>G (n.-89A>G)
c.242A>G (p.Lys81Arg)
 ClinVar
14g.53952122T>GCA389785572BMP4c.101A>C (p.Lys34Thr)
c.26A>C (p.Lys9Thr)
c.-89A>C (n.-89A>C)
c.242A>C (p.Lys81Thr)
14g.53952122T=CA2137819453BMP4c.101A= (p.Lys34=)
c.26A= (p.Lys9=)
c.-89A= (n.-89A=)
c.242A= (p.Lys81=)
14g.53952123T>ACA389785573BMP4c.100A>T (p.Lys34Ter)
c.25A>T (p.Lys9Ter)
c.-90A>T (n.-90A>T)
c.241A>T (p.Lys81Ter)
14g.53952123T>CCA389785574BMP4c.100A>G (p.Lys34Glu)
c.25A>G (p.Lys9Glu)
c.-90A>G (n.-90A>G)
c.241A>G (p.Lys81Glu)
14g.53952123T>GCA389785575BMP4c.100A>C (p.Lys34Gln)
c.25A>C (p.Lys9Gln)
c.-90A>C (n.-90A>C)
c.241A>C (p.Lys81Gln)
14g.53952124T>ACA389785576BMP4c.99A>T (p.Lys33Asn)
c.24A>T (p.Lys8Asn)
c.-91A>T (n.-91A>T)
c.240A>T (p.Lys80Asn)
14g.53952124T>CCA486658925BMP4c.99A>G (p.Lys33=)
c.24A>G (p.Lys8=)
c.-91A>G (n.-91A>G)
c.240A>G (p.Lys80=)
14g.53952124T>GCA389785577BMP4c.99A>C (p.Lys33Asn)
c.24A>C (p.Lys8Asn)
c.-91A>C (n.-91A>C)
c.240A>C (p.Lys80Asn)
14g.53952125T>ACA389785578BMP4c.98A>T (p.Lys33Ile)
c.23A>T (p.Lys8Ile)
c.-92A>T (n.-92A>T)
c.239A>T (p.Lys80Ile)
14g.53952125T>CCA389785579BMP4c.98A>G (p.Lys33Arg)
c.23A>G (p.Lys8Arg)
c.-92A>G (n.-92A>G)
c.239A>G (p.Lys80Arg)
 gnomAD v4
14g.53952125T>GCA389785580BMP4c.98A>C (p.Lys33Thr)
c.23A>C (p.Lys8Thr)
c.-92A>C (n.-92A>C)
c.239A>C (p.Lys80Thr)
14g.53952126T>ACA389785583BMP4c.97A>T (p.Lys33Ter)
c.22A>T (p.Lys8Ter)
c.-93A>T (n.-93A>T)
c.238A>T (p.Lys80Ter)
14g.53952126T>CCA389785582BMP4c.97A>G (p.Lys33Glu)
c.22A>G (p.Lys8Glu)
c.-93A>G (n.-93A>G)
c.238A>G (p.Lys80Glu)
14g.53952126T>GCA389785581BMP4c.97A>C (p.Lys33Gln)
c.22A>C (p.Lys8Gln)
c.-93A>C (n.-93A>C)
c.238A>C (p.Lys80Gln)
14g.53952127C>ACA389785584BMP4c.96G>T (p.Lys32Asn)
c.21G>T (p.Lys7Asn)
c.-94G>T (n.-94G>T)
c.237G>T (p.Lys79Asn)
14g.53952127C>GCA389785585BMP4c.96G>C (p.Lys32Asn)
c.21G>C (p.Lys7Asn)
c.-94G>C (n.-94G>C)
c.237G>C (p.Lys79Asn)
 gnomAD v4
14g.53952127C>TCA486658927BMP4c.96G>A (p.Lys32=)
c.21G>A (p.Lys7=)
c.-94G>A (n.-94G>A)
c.237G>A (p.Lys79=)
14g.53952128T>ACA389785586BMP4c.95A>T (p.Lys32Met)
c.20A>T (p.Lys7Met)
c.-95A>T (n.-95A>T)
c.236A>T (p.Lys79Met)
14g.53952128T>CCA389785587BMP4c.95A>G (p.Lys32Arg)
c.20A>G (p.Lys7Arg)
c.-95A>G (n.-95A>G)
c.236A>G (p.Lys79Arg)
14g.53952128T>GCA389785588BMP4c.95A>C (p.Lys32Thr)
c.20A>C (p.Lys7Thr)
c.-95A>C (n.-95A>C)
c.236A>C (p.Lys79Thr)
14g.53952128_53952129insAAGAAAAAAGCA2624918699BMP4c.94_95insCTTTTTTCTT (p.Lys32ThrfsTer24)
c.19_20insCTTTTTTCTT (p.Lys7ThrfsTer24)
c.-96_-95insCTTTTTTCTT (n.-96_-95insCTTTTTTCTT)
c.235_236insCTTTTTTCTT (p.Lys79ThrfsTer24)
 gnomAD v4
14g.53952129T>ACA389785589BMP4c.94A>T (p.Lys32Ter)
c.19A>T (p.Lys7Ter)
c.-96A>T (n.-96A>T)
c.235A>T (p.Lys79Ter)
14g.53952129T>CCA389785590BMP4c.94A>G (p.Lys32Glu)
c.19A>G (p.Lys7Glu)
c.-96A>G (n.-96A>G)
c.235A>G (p.Lys79Glu)
14g.53952129T>GCA389785591BMP4c.94A>C (p.Lys32Gln)
c.19A>C (p.Lys7Gln)
c.-96A>C (n.-96A>C)
c.235A>C (p.Lys79Gln)
 dbSNP gnomAD v2 gnomAD v4
14g.53952129T=CA2137819456BMP4c.94A= (p.Lys32=)
c.19A= (p.Lys7=)
c.-96A= (n.-96A=)
c.235A= (p.Lys79=)
14g.53952130C>ACA486658929BMP4c.93G>T (p.Gly31=)
c.18G>T (p.Gly6=)
c.-97G>T (n.-97G>T)
c.234G>T (p.Gly78=)
14g.53952130C=CA2137819463BMP4c.93G= (p.Gly31=)
c.18G= (p.Gly6=)
c.-97G= (n.-97G=)
c.234G= (p.Gly78=)
14g.53952130C>GCA7191834BMP4c.93G>C (p.Gly31=)
c.18G>C (p.Gly6=)
c.-97G>C (n.-97G>C)
c.234G>C (p.Gly78=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53952130C>TCA486658931BMP4c.93G>A (p.Gly31=)
c.18G>A (p.Gly6=)
c.-97G>A (n.-97G>A)
c.234G>A (p.Gly78=)
 gnomAD v4
14g.53952131C>ACA389785592BMP4c.92G>T (p.Gly31Val)
c.17G>T (p.Gly6Val)
c.-98G>T (n.-98G>T)
c.233G>T (p.Gly78Val)
14g.53952131C=CA2137819467BMP4c.92G= (p.Gly31=)
c.17G= (p.Gly6=)
c.-98G= (n.-98G=)
c.233G= (p.Gly78=)
14g.53952131C>GCA389785593BMP4c.92G>C (p.Gly31Ala)
c.17G>C (p.Gly6Ala)
c.-98G>C (n.-98G>C)
c.233G>C (p.Gly78Ala)
14g.53952131C>TCA261472789BMP4c.92G>A (p.Gly31Glu)
c.17G>A (p.Gly6Glu)
c.-98G>A (n.-98G>A)
c.233G>A (p.Gly78Glu)
 dbSNP gnomAD v3 gnomAD v4
14g.53952132C>ACA389785596BMP4c.91G>T (p.Gly31Trp)
c.16G>T (p.Gly6Trp)
c.-99G>T (n.-99G>T)
c.232G>T (p.Gly78Trp)
14g.53952132C>GCA389785594BMP4c.91G>C (p.Gly31Arg)
c.16G>C (p.Gly6Arg)
c.-99G>C (n.-99G>C)
c.232G>C (p.Gly78Arg)
14g.53952132C>TCA389785595BMP4c.91G>A (p.Gly31Arg)
c.16G>A (p.Gly6Arg)
c.-99G>A (n.-99G>A)
c.232G>A (p.Gly78Arg)
14g.53952133C>ACA7191835BMP4c.90G>T (p.Thr30=)
c.15G>T (p.Thr5=)
c.-100G>T (n.-100G>T)
c.231G>T (p.Thr77=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53952133C=CA2137819473BMP4c.90G= (p.Thr30=)
c.15G= (p.Thr5=)
c.-100G= (n.-100G=)
c.231G= (p.Thr77=)
14g.53952133C>GCA7191837BMP4c.90G>C (p.Thr30=)
c.15G>C (p.Thr5=)
c.-100G>C (n.-100G>C)
c.231G>C (p.Thr77=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.53952133C>TCA7191836BMP4c.90G>A (p.Thr30=)
c.15G>A (p.Thr5=)
c.-100G>A (n.-100G>A)
c.231G>A (p.Thr77=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53952134G>ACA7191838BMP4c.89C>T (p.Thr30Met)
c.14C>T (p.Thr5Met)
c.-101C>T (n.-101C>T)
c.230C>T (p.Thr77Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53952134G>CCA389785597BMP4c.89C>G (p.Thr30Arg)
c.14C>G (p.Thr5Arg)
c.-101C>G (n.-101C>G)
c.230C>G (p.Thr77Arg)
14g.53952134G=CA2137819475BMP4c.89C= (p.Thr30=)
c.14C= (p.Thr5=)
c.-101C= (n.-101C=)
c.230C= (p.Thr77=)
14g.53952134G>TCA389785598BMP4c.89C>A (p.Thr30Lys)
c.14C>A (p.Thr5Lys)
c.-101C>A (n.-101C>A)
c.230C>A (p.Thr77Lys)
 gnomAD v4
14g.53952135T>ACA389785599BMP4c.88A>T (p.Thr30Ser)
c.13A>T (p.Thr5Ser)
c.-102A>T (n.-102A>T)
c.229A>T (p.Thr77Ser)
14g.53952135T>CCA7191839BMP4c.88A>G (p.Thr30Ala)
c.13A>G (p.Thr5Ala)
c.-102A>G (n.-102A>G)
c.229A>G (p.Thr77Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53952135T>GCA389785600BMP4c.88A>C (p.Thr30Pro)
c.13A>C (p.Thr5Pro)
c.-102A>C (n.-102A>C)
c.229A>C (p.Thr77Pro)
14g.53952135T=CA2137819477BMP4c.88A= (p.Thr30=)
c.13A= (p.Thr5=)
c.-102A= (n.-102A=)
c.229A= (p.Thr77=)
14g.53952136C>ACA389785601BMP4c.87G>T (p.Glu29Asp)
c.12G>T (p.Glu4Asp)
c.-103G>T (n.-103G>T)
c.228G>T (p.Glu76Asp)
14g.53952136C=CA2137819480BMP4c.87G= (p.Glu29=)
c.12G= (p.Glu4=)
c.-103G= (n.-103G=)
c.228G= (p.Glu76=)
14g.53952136C>GCA7191840BMP4c.87G>C (p.Glu29Asp)
c.12G>C (p.Glu4Asp)
c.-103G>C (n.-103G>C)
c.228G>C (p.Glu76Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.53952136C>TCA261472790BMP4c.87G>A (p.Glu29=)
c.12G>A (p.Glu4=)
c.-103G>A (n.-103G>A)
c.228G>A (p.Glu76=)
 dbSNP gnomAD v3 gnomAD v4
14g.53952137T>ACA389785603BMP4c.86A>T (p.Glu29Val)
c.11A>T (p.Glu4Val)
c.-104A>T (n.-104A>T)
c.227A>T (p.Glu76Val)
14g.53952137T>CCA389785604BMP4c.86A>G (p.Glu29Gly)
c.11A>G (p.Glu4Gly)
c.-104A>G (n.-104A>G)
c.227A>G (p.Glu76Gly)
14g.53952137T>GCA389785602BMP4c.86A>C (p.Glu29Ala)
c.11A>C (p.Glu4Ala)
c.-104A>C (n.-104A>C)
c.227A>C (p.Glu76Ala)
14g.53952138C>ACA389785605BMP4c.85G>T (p.Glu29Ter)
c.10G>T (p.Glu4Ter)
c.-105G>T (n.-105G>T)
c.226G>T (p.Glu76Ter)
14g.53952138C=CA2137819482BMP4c.85G= (p.Glu29=)
c.10G= (p.Glu4=)
c.-105G= (n.-105G=)
c.226G= (p.Glu76=)
14g.53952138C>GCA389785606BMP4c.85G>C (p.Glu29Gln)
c.10G>C (p.Glu4Gln)
c.-105G>C (n.-105G>C)
c.226G>C (p.Glu76Gln)
 dbSNP gnomAD v2 gnomAD v4
14g.53952138C>TCA389785607BMP4c.85G>A (p.Glu29Lys)
c.10G>A (p.Glu4Lys)
c.-105G>A (n.-105G>A)
c.226G>A (p.Glu76Lys)
14g.53952139A=CA2137819483BMP4c.84T= (p.Pro28=)
c.9T= (p.Pro3=)
c.-106T= (n.-106T=)
c.225T= (p.Pro75=)
14g.53952139A>CCA486658937BMP4c.84T>G (p.Pro28=)
c.9T>G (p.Pro3=)
c.-106T>G (n.-106T>G)
c.225T>G (p.Pro75=)
 gnomAD v4
14g.53952139A>GCA486658939BMP4c.84T>C (p.Pro28=)
c.9T>C (p.Pro3=)
c.-106T>C (n.-106T>C)
c.225T>C (p.Pro75=)
 dbSNP
14g.53952139A>TCA486658941BMP4c.84T>A (p.Pro28=)
c.9T>A (p.Pro3=)
c.-106T>A (n.-106T>A)
c.225T>A (p.Pro75=)
14g.53952140G>ACA389785608BMP4c.83C>T (p.Pro28Leu)
c.8C>T (p.Pro3Leu)
c.-107C>T (n.-107C>T)
c.224C>T (p.Pro75Leu)
14g.53952140G>CCA389785609BMP4c.83C>G (p.Pro28Arg)
c.8C>G (p.Pro3Arg)
c.-107C>G (n.-107C>G)
c.224C>G (p.Pro75Arg)
14g.53952140G=CA2137819489BMP4c.83C= (p.Pro28=)
c.8C= (p.Pro3=)
c.-107C= (n.-107C=)
c.224C= (p.Pro75=)
14g.53952140G>TCA389785610BMP4c.83C>A (p.Pro28His)
c.8C>A (p.Pro3His)
c.-107C>A (n.-107C>A)
c.224C>A (p.Pro75His)
 dbSNP
14g.53952141G>ACA389785611BMP4c.82C>T (p.Pro28Ser)
c.7C>T (p.Pro3Ser)
c.-108C>T (n.-108C>T)
c.223C>T (p.Pro75Ser)
14g.53952141G>CCA389785613BMP4c.82C>G (p.Pro28Ala)
c.7C>G (p.Pro3Ala)
c.-108C>G (n.-108C>G)
c.223C>G (p.Pro75Ala)
14g.53952141G>TCA389785612BMP4c.82C>A (p.Pro28Thr)
c.7C>A (p.Pro3Thr)
c.-108C>A (n.-108C>A)
c.223C>A (p.Pro75Thr)
14g.53952142T>ACA486658943BMP4c.81A>T (p.Ile27=)
c.6A>T (p.Ile2=)
c.-109A>T (n.-109A>T)
c.222A>T (p.Ile74=)
14g.53952142T>CCA389785614BMP4c.81A>G (p.Ile27Met)
c.6A>G (p.Ile2Met)
c.-109A>G (n.-109A>G)
c.222A>G (p.Ile74Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.53952142T>GCA486658944BMP4c.81A>C (p.Ile27=)
c.6A>C (p.Ile2=)
c.-109A>C (n.-109A>C)
c.222A>C (p.Ile74=)
 dbSNP
14g.53952142T=CA2137819493BMP4c.81A= (p.Ile27=)
c.6A= (p.Ile2=)
c.-109A= (n.-109A=)
c.222A= (p.Ile74=)
14g.53952143A>CCA389785615BMP4c.80T>G (p.Ile27Arg)
c.5T>G (p.Ile2Arg)
c.-110T>G (n.-110T>G)
c.221T>G (p.Ile74Arg)
14g.53952143A>GCA389785616BMP4c.80T>C (p.Ile27Thr)
c.5T>C (p.Ile2Thr)
c.-110T>C (n.-110T>C)
c.221T>C (p.Ile74Thr)
14g.53952143A>TCA389785617BMP4c.80T>A (p.Ile27Lys)
c.5T>A (p.Ile2Lys)
c.-110T>A (n.-110T>A)
c.221T>A (p.Ile74Lys)
14g.53952144T>ACA389785620BMP4c.79A>T (p.Ile27Leu)
c.4A>T (p.Ile2Leu)
c.-111A>T (n.-111A>T)
c.220A>T (p.Ile74Leu)
 gnomAD v4
14g.53952144T>CCA389785618BMP4c.79A>G (p.Ile27Val)
c.4A>G (p.Ile2Val)
c.-111A>G (n.-111A>G)
c.220A>G (p.Ile74Val)
14g.53952144T>GCA389785619BMP4c.79A>C (p.Ile27Leu)
c.4A>C (p.Ile2Leu)
c.-111A>C (n.-111A>C)
c.220A>C (p.Ile74Leu)
 dbSNP gnomAD v2 gnomAD v4
14g.53952144T=CA2137819497BMP4c.79A= (p.Ile27=)
c.4A= (p.Ile2=)
c.-111A= (n.-111A=)
c.220A= (p.Ile74=)
14g.53952145C>ACA389785621BMP4c.78G>T (p.Leu26Phe)
c.3G>T (p.Leu1Phe)
c.-112G>T (n.-112G>T)
c.219G>T (p.Leu73Phe)
14g.53952145C>GCA389785622BMP4c.78G>C (p.Leu26Phe)
c.3G>C (p.Leu1Phe)
c.-112G>C (n.-112G>C)
c.219G>C (p.Leu73Phe)
14g.53952145C>TCA486658946BMP4c.78G>A (p.Leu26=)
c.3G>A (p.Leu1=)
c.-112G>A (n.-112G>A)
c.219G>A (p.Leu73=)
14g.53952146A>CCA389785623BMP4c.77T>G (p.Leu26Trp)
c.2T>G (p.Leu1Trp)
c.-113T>G (n.-113T>G)
c.218T>G (p.Leu73Trp)
 gnomAD v4
14g.53952146A>GCA389785624BMP4c.77T>C (p.Leu26Ser)
c.2T>C (p.Leu1Ser)
c.-113T>C (n.-113T>C)
c.218T>C (p.Leu73Ser)
14g.53952146A>TCA389785625BMP4c.77T>A (p.Leu26Ter)
c.2T>A (p.Leu1Ter)
c.-113T>A (n.-113T>A)
c.218T>A (p.Leu73Ter)
14g.53952147A=CA2137819502BMP4c.76T= (p.Leu26=)
c.1T= (p.Leu1=)
c.-114T= (n.-114T=)
c.217T= (p.Leu73=)
14g.53952147A>CCA389785626BMP4c.76T>G (p.Leu26Val)
c.1T>G (p.Leu1Val)
c.-114T>G (n.-114T>G)
c.217T>G (p.Leu73Val)
14g.53952147A>GCA7191841BMP4c.76T>C (p.Leu26=)
c.1T>C (p.Leu1=)
c.-114T>C (n.-114T>C)
c.217T>C (p.Leu73=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53952147A>TCA389785627BMP4c.76T>A (p.Leu26Met)
c.1T>A (p.Leu1Met)
c.-114T>A (n.-114T>A)
c.217T>A (p.Leu73Met)
14g.53952148A=CA2137819505BMP4c.75T= (p.Ser25=)
c.-115T= (n.-115T=)
c.216T= (p.Ser72=)
14g.53952148A>CCA7191842BMP4c.75T>G (p.Ser25Arg)
c.-115T>G (n.-115T>G)
c.216T>G (p.Ser72Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.53952148A>GCA486658952BMP4c.75T>C (p.Ser25=)
c.-115T>C (n.-115T>C)
c.216T>C (p.Ser72=)
14g.53952148A>TCA389785628BMP4c.75T>A (p.Ser25Arg)
c.-115T>A (n.-115T>A)
c.216T>A (p.Ser72Arg)
14g.53952149C>ACA389785629BMP4c.74G>T (p.Ser25Ile)
c.-116G>T (n.-116G>T)
c.215G>T (p.Ser72Ile)
14g.53952149C=CA2137819507BMP4c.74G= (p.Ser25=)
c.-116G= (n.-116G=)
c.215G= (p.Ser72=)
14g.53952149C>GCA389785630BMP4c.74G>C (p.Ser25Thr)
c.-116G>C (n.-116G>C)
c.215G>C (p.Ser72Thr)
14g.53952149C>TCA389785631BMP4c.74G>A (p.Ser25Asn)
c.-116G>A (n.-116G>A)
c.215G>A (p.Ser72Asn)
 dbSNP gnomAD v2 gnomAD v4
14g.53952150T>ACA389785632BMP4c.73A>T (p.Ser25Cys)
c.-117A>T (n.-117A>T)
c.214A>T (p.Ser72Cys)
14g.53952150T>CCA389785634BMP4c.73A>G (p.Ser25Gly)
c.-117A>G (n.-117A>G)
c.214A>G (p.Ser72Gly)
 gnomAD v4
14g.53952150T>GCA389785633BMP4c.73A>C (p.Ser25Arg)
c.-117A>C (n.-117A>C)
c.214A>C (p.Ser72Arg)
14g.53952151A=CA2137819509BMP4c.72T= (p.Ala24=)
c.-118T= (n.-118T=)
c.213T= (p.Ala71=)
14g.53952151A>CCA486658955BMP4c.72T>G (p.Ala24=)
c.-118T>G (n.-118T>G)
c.213T>G (p.Ala71=)
14g.53952151A>GCA486658956BMP4c.72T>C (p.Ala24=)
c.-118T>C (n.-118T>C)
c.213T>C (p.Ala71=)
 dbSNP gnomAD v4
14g.53952151A>TCA7191843BMP4c.72T>A (p.Ala24=)
c.-118T>A (n.-118T>A)
c.213T>A (p.Ala71=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53952152G>ACA389785635BMP4c.71C>T (p.Ala24Val)
c.-119C>T (n.-119C>T)
c.212C>T (p.Ala71Val)
 gnomAD v4
14g.53952152G>CCA389785636BMP4c.71C>G (p.Ala24Gly)
c.-119C>G (n.-119C>G)
c.212C>G (p.Ala71Gly)
14g.53952152G>TCA389785637BMP4c.71C>A (p.Ala24Asp)
c.-119C>A (n.-119C>A)
c.212C>A (p.Ala71Asp)
14g.53952153C>ACA389785638BMP4c.70G>T (p.Ala24Ser)
c.-120G>T (n.-120G>T)
c.211G>T (p.Ala71Ser)
14g.53952153C>GCA389785639BMP4c.70G>C (p.Ala24Pro)
c.-120G>C (n.-120G>C)
c.211G>C (p.Ala71Pro)
14g.53952153C>TCA389785640BMP4c.70G>A (p.Ala24Thr)
c.-120G>A (n.-120G>A)
c.211G>A (p.Ala71Thr)
14g.53952154A>CCA389785641BMP4c.69T>G (p.His23Gln)
c.-121T>G (n.-121T>G)
c.210T>G (p.His70Gln)
14g.53952154A>GCA486658963BMP4c.69T>C (p.His23=)
c.-121T>C (n.-121T>C)
c.210T>C (p.His70=)
14g.53952154A>TCA389785642BMP4c.69T>A (p.His23Gln)
c.-121T>A (n.-121T>A)
c.210T>A (p.His70Gln)
14g.53952155T>ACA389785643BMP4c.68A>T (p.His23Leu)
c.-122A>T (n.-122A>T)
c.209A>T (p.His70Leu)
 gnomAD v4
14g.53952155T>CCA389785644BMP4c.68A>G (p.His23Arg)
c.-122A>G (n.-122A>G)
c.209A>G (p.His70Arg)
 gnomAD v4
14g.53952155T>GCA389785645BMP4c.68A>C (p.His23Pro)
c.-122A>C (n.-122A>C)
c.209A>C (p.His70Pro)
14g.53952156G>ACA389785648BMP4c.67C>T (p.His23Tyr)
c.-123C>T (n.-123C>T)
c.208C>T (p.His70Tyr)
 COSMIC
14g.53952156G>CCA389785646BMP4c.67C>G (p.His23Asp)
c.-123C>G (n.-123C>G)
c.208C>G (p.His70Asp)
14g.53952156G>TCA389785647BMP4c.67C>A (p.His23Asn)
c.-123C>A (n.-123C>A)
c.208C>A (p.His70Asn)
14g.53952157G>ACA486480109BMP4c.66C>T (p.Ser22=)
c.-124C>T (n.-124C>T)
c.207C>T (p.Ser69=)
14g.53952157G>CCA389785649BMP4c.66C>G (p.Ser22Arg)
c.-124C>G (n.-124C>G)
c.207C>G (p.Ser69Arg)
 dbSNP gnomAD v4
14g.53952157G>TCA389785650BMP4c.66C>A (p.Ser22Arg)
c.-124C>A (n.-124C>A)
c.207C>A (p.Ser69Arg)
14g.53952158C>ACA389785651BMP4c.65G>T (p.Ser22Ile)
c.-125G>T (n.-125G>T)
c.206G>T (p.Ser69Ile)
14g.53952158C>GCA389785652BMP4c.65G>C (p.Ser22Thr)
c.-125G>C (n.-125G>C)
c.206G>C (p.Ser69Thr)
14g.53952158C>TCA389785653BMP4c.65G>A (p.Ser22Asn)
c.-125G>A (n.-125G>A)
c.206G>A (p.Ser69Asn)
 COSMIC
14g.53952159T>ACA389785654BMP4c.64A>T (p.Ser22Cys)
c.-126A>T (n.-126A>T)
c.205A>T (p.Ser69Cys)
14g.53952159T>CCA389785655BMP4c.64A>G (p.Ser22Gly)
c.-126A>G (n.-126A>G)
c.205A>G (p.Ser69Gly)
14g.53952159T>GCA389785656BMP4c.64A>C (p.Ser22Arg)
c.-126A>C (n.-126A>C)
c.205A>C (p.Ser69Arg)
14g.53952160C>ACA486480110BMP4c.63G>T (p.Ala21=)
c.-127G>T (n.-127G>T)
c.204G>T (p.Ala68=)
14g.53952160C=CA2137819513BMP4c.63G= (p.Ala21=)
c.-127G= (n.-127G=)
c.204G= (p.Ala68=)
14g.53952160C>GCA7191844BMP4c.63G>C (p.Ala21=)
c.-127G>C (n.-127G>C)
c.204G>C (p.Ala68=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53952160C>TCA486480111BMP4c.63G>A (p.Ala21=)
c.-127G>A (n.-127G>A)
c.204G>A (p.Ala68=)
 ClinVar gnomAD v4 COSMIC
14g.53952161G>ACA389785657BMP4c.62C>T (p.Ala21Val)
c.-128C>T (n.-128C>T)
c.203C>T (p.Ala68Val)
 dbSNP gnomAD v2 gnomAD v4
14g.53952161G>CCA7191845BMP4c.62C>G (p.Ala21Gly)
c.-128C>G (n.-128C>G)
c.203C>G (p.Ala68Gly)
 dbSNP ExAC gnomAD v2
14g.53952161G=CA2137819521BMP4c.62C= (p.Ala21=)
c.-128C= (n.-128C=)
c.203C= (p.Ala68=)
14g.53952161G>TCA7191846BMP4c.62C>A (p.Ala21Glu)
c.-128C>A (n.-128C>A)
c.203C>A (p.Ala68Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.53952162C>ACA389785659BMP4c.61G>T (p.Ala21Ser)
c.-129G>T (n.-129G>T)
c.202G>T (p.Ala68Ser)
 dbSNP gnomAD v3 gnomAD v4
14g.53952162C=CA2137819525BMP4c.61G= (p.Ala21=)
c.-129G= (n.-129G=)
c.202G= (p.Ala68=)
14g.53952162C>GCA389785660BMP4c.61G>C (p.Ala21Pro)
c.-129G>C (n.-129G>C)
c.202G>C (p.Ala68Pro)
14g.53952162C>TCA389785658BMP4c.61G>A (p.Ala21Thr)
c.-129G>A (n.-129G>A)
c.202G>A (p.Ala68Thr)
 dbSNP gnomAD v2 gnomAD v4
14g.53952163G>ACA486480112BMP4c.60C>T (p.Gly20=)
c.-130C>T (n.-130C>T)
c.201C>T (p.Gly67=)
14g.53952163G>CCA486480114BMP4c.60C>G (p.Gly20=)
c.-130C>G (n.-130C>G)
c.201C>G (p.Gly67=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.53952163G=CA2137819530BMP4c.60C= (p.Gly20=)
c.-130C= (n.-130C=)
c.201C= (p.Gly67=)
14g.53952163G>TCA486480113BMP4c.60C>A (p.Gly20=)
c.-130C>A (n.-130C>A)
c.201C>A (p.Gly67=)
14g.53952164C>ACA389785662BMP4c.59G>T (p.Gly20Val)
c.-131G>T (n.-131G>T)
c.200G>T (p.Gly67Val)
14g.53952164C>GCA389785661BMP4c.59G>C (p.Gly20Ala)
c.-131G>C (n.-131G>C)
c.200G>C (p.Gly67Ala)
14g.53952164C>TCA389785663BMP4c.59G>A (p.Gly20Asp)
c.-131G>A (n.-131G>A)
c.200G>A (p.Gly67Asp)
14g.53952165C>ACA389785664BMP4c.58G>T (p.Gly20Cys)
c.-132G>T (n.-132G>T)
c.199G>T (p.Gly67Cys)
14g.53952165C=CA2137819534BMP4c.58G= (p.Gly20=)
c.-132G= (n.-132G=)
c.199G= (p.Gly67=)
14g.53952165C>GCA389785665BMP4c.58G>C (p.Gly20Arg)
c.-132G>C (n.-132G>C)
c.199G>C (p.Gly67Arg)
14g.53952165C>TCA389785666BMP4c.58G>A (p.Gly20Ser)
c.-132G>A (n.-132G>A)
c.199G>A (p.Gly67Ser)
 ClinVar dbSNP
14g.53952166T>ACA486480115BMP4c.57A>T (p.Gly19=)
c.-133A>T (n.-133A>T)
c.198A>T (p.Gly66=)
14g.53952166T>CCA486480116BMP4c.57A>G (p.Gly19=)
c.-133A>G (n.-133A>G)
c.198A>G (p.Gly66=)
14g.53952166T>GCA486480117BMP4c.57A>C (p.Gly19=)
c.-133A>C (n.-133A>C)
c.198A>C (p.Gly66=)
14g.53952167C>ACA389785667BMP4c.56G>T (p.Gly19Val)
c.-134G>T (n.-134G>T)
c.197G>T (p.Gly66Val)
14g.53952167C>GCA389785668BMP4c.56G>C (p.Gly19Ala)
c.-134G>C (n.-134G>C)
c.197G>C (p.Gly66Ala)
14g.53952167C>TCA389785669BMP4c.56G>A (p.Gly19Glu)
c.-134G>A (n.-134G>A)
c.197G>A (p.Gly66Glu)
14g.53952168C>ACA389785670BMP4c.55G>T (p.Gly19Ter)
c.-135G>T (n.-135G>T)
c.196G>T (p.Gly66Ter)
14g.53952168C>GCA389785671BMP4c.55G>C (p.Gly19Arg)
c.-135G>C (n.-135G>C)
c.196G>C (p.Gly66Arg)
14g.53952168C>TCA389785672BMP4c.55G>A (p.Gly19Arg)
c.-135G>A (n.-135G>A)
c.196G>A (p.Gly66Arg)
14g.53952169T>ACA486480118BMP4c.54A>T (p.Leu18=)
c.-136A>T (n.-136A>T)
c.195A>T (p.Leu65=)
14g.53952169T>CCA7191847BMP4c.54A>G (p.Leu18=)
c.-136A>G (n.-136A>G)
c.195A>G (p.Leu65=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53952169T>GCA486480119BMP4c.54A>C (p.Leu18=)
c.-136A>C (n.-136A>C)
c.195A>C (p.Leu65=)
14g.53952169T=CA2137819537BMP4c.54A= (p.Leu18=)
c.-136A= (n.-136A=)
c.195A= (p.Leu65=)
14g.53952170A=CA2137819539BMP4c.53T= (p.Leu18=)
c.-137T= (n.-137T=)
c.194T= (p.Leu65=)
14g.53952170A>CCA389785673BMP4c.53T>G (p.Leu18Arg)
c.-137T>G (n.-137T>G)
c.194T>G (p.Leu65Arg)
 dbSNP
14g.53952170A>GCA389785674BMP4c.53T>C (p.Leu18Pro)
c.-137T>C (n.-137T>C)
c.194T>C (p.Leu65Pro)
14g.53952170A>TCA389785675BMP4c.53T>A (p.Leu18Gln)
c.-137T>A (n.-137T>A)
c.194T>A (p.Leu65Gln)
14g.53952171G>ACA486480120BMP4c.52C>T (p.Leu18=)
c.-138C>T (n.-138C>T)
c.193C>T (p.Leu65=)
14g.53952171G>CCA389785676BMP4c.52C>G (p.Leu18Val)
c.-138C>G (n.-138C>G)
c.193C>G (p.Leu65Val)
14g.53952171G>TCA389785677BMP4c.52C>A (p.Leu18Ile)
c.-138C>A (n.-138C>A)
c.193C>A (p.Leu65Ile)
14g.53952172C>ACA486480121BMP4c.51G>T (p.Leu17=)
c.-139G>T (n.-139G>T)
c.192G>T (p.Leu64=)
14g.53952172C=CA2137819543BMP4c.51G= (p.Leu17=)
c.-139G= (n.-139G=)
c.192G= (p.Leu64=)
14g.53952172C>GCA7191848BMP4c.51G>C (p.Leu17=)
c.-139G>C (n.-139G>C)
c.192G>C (p.Leu64=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.53952172C>TCA486480122BMP4c.51G>A (p.Leu17=)
c.-139G>A (n.-139G>A)
c.192G>A (p.Leu64=)
 gnomAD v4
14g.53952173A>CCA389785678BMP4c.50T>G (p.Leu17Arg)
c.-140T>G (n.-140T>G)
c.191T>G (p.Leu64Arg)
14g.53952173A>GCA389785679BMP4c.50T>C (p.Leu17Pro)
c.-140T>C (n.-140T>C)
c.191T>C (p.Leu64Pro)
14g.53952173A>TCA389785680BMP4c.50T>A (p.Leu17Gln)
c.-140T>A (n.-140T>A)
c.191T>A (p.Leu64Gln)
14g.53952174G>ACA486480123BMP4c.49C>T (p.Leu17=)
c.-141C>T (n.-141C>T)
c.190C>T (p.Leu64=)
14g.53952174G>CCA389785681BMP4c.49C>G (p.Leu17Val)
c.-141C>G (n.-141C>G)
c.190C>G (p.Leu64Val)
14g.53952174G>TCA389785682BMP4c.49C>A (p.Leu17Met)
c.-141C>A (n.-141C>A)
c.190C>A (p.Leu64Met)
14g.53952175G>ACA486480124BMP4c.48C>T (p.Val16=)
c.-142C>T (n.-142C>T)
c.189C>T (p.Ile63=)
 gnomAD v4
14g.53952175G>CCA486480125BMP4c.48C>G (p.Val16=)
c.-142C>G (n.-142C>G)
c.189C>G (p.Ile63Met)
14g.53952175G>TCA486480126BMP4c.48C>A (p.Val16=)
c.-142C>A (n.-142C>A)
c.189C>A (p.Ile63=)
 gnomAD v4
14g.53952176A>CCA389785683BMP4c.47T>G (p.Val16Gly)
c.-143T>G (n.-143T>G)
c.188T>G (p.Ile63Ser)
14g.53952176A>GCA389785684BMP4c.47T>C (p.Val16Ala)
c.-143T>C (n.-143T>C)
c.188T>C (p.Ile63Thr)
 gnomAD v4
14g.53952176A>TCA389785685BMP4c.47T>A (p.Val16Asp)
c.-143T>A (n.-143T>A)
c.188T>A (p.Ile63Asn)
14g.53952177C>ACA389785686BMP4c.46G>T (p.Val16Phe)
c.-143-1G>T (n.-143-1G>T)
c.188-1G>T (n.188-1G>T)
14g.53952177C=CA2137819546BMP4c.46G= (p.Val16=)
c.-143-1G= (n.-143-1G=)
c.188-1G= (n.188-1G=)
14g.53952177C>GCA261472791BMP4c.46G>C (p.Val16Leu)
c.-143-1G>C (n.-143-1G>C)
c.188-1G>C (n.188-1G>C)
 dbSNP
14g.53952177C>TCA389785687BMP4c.46G>A (p.Val16Ile)
c.-143-1G>A (n.-143-1G>A)
c.188-1G>A (n.188-1G>A)
 gnomAD v4
14g.53952178T>ACA389785688BMP4c.45A>T (p.Gln15His)
c.-143-2A>T (n.-143-2A>T)
c.188-2A>T (n.188-2A>T)
14g.53952178T>CCA486480127BMP4c.45A>G (p.Gln15=)
c.-143-2A>G (n.-143-2A>G)
c.188-2A>G (n.188-2A>G)
14g.53952178T>GCA389785689BMP4c.45A>C (p.Gln15His)
c.-143-2A>C (n.-143-2A>C)
c.188-2A>C (n.188-2A>C)
 dbSNP gnomAD v3 gnomAD v4
14g.53952178T=CA2137819551BMP4c.45A= (p.Gln15=)
c.-143-2A= (n.-143-2A=)
c.188-2A= (n.188-2A=)
14g.53952179T>ACA389785690BMP4c.44A>T (p.Gln15Leu)
c.-143-3A>T (n.-143-3A>T)
c.188-3A>T (n.188-3A>T)
14g.53952179T>CCA389785691BMP4c.44A>G (p.Gln15Arg)
c.-143-3A>G (n.-143-3A>G)
c.188-3A>G (n.188-3A>G)
14g.53952179T>GCA389785692BMP4c.44A>C (p.Gln15Pro)
c.-143-3A>C (n.-143-3A>C)
c.188-3A>C (n.188-3A>C)
 gnomAD v4
14g.53952180G>ACA389785693BMP4c.43C>T (p.Gln15Ter)
c.-143-4C>T (n.-143-4C>T)
c.188-4C>T (n.188-4C>T)
14g.53952180G>CCA389785694BMP4c.43C>G (p.Gln15Glu)
c.-143-4C>G (n.-143-4C>G)
c.188-4C>G (n.188-4C>G)
 ClinVar dbSNP
14g.53952180G=CA2137819556BMP4c.43C= (p.Gln15=)
c.-143-4C= (n.-143-4C=)
c.188-4C= (n.188-4C=)
14g.53952180G>TCA389785695BMP4c.43C>A (p.Gln15Lys)
c.-143-4C>A (n.-143-4C>A)
c.188-4C>A (n.188-4C>A)
14g.53952181delCA2695219360BMP4c.43del (p.Gln15LysfsTer4)
c.-143-4del (n.-143-4del)
c.188-4del (n.188-4del)
14g.53952181G>ACA486480128BMP4c.42C>T (p.Cys14=)
c.-143-5C>T (n.-143-5C>T)
c.188-5C>T (n.188-5C>T)
14g.53952181G>CCA389785696BMP4c.42C>G (p.Cys14Trp)
c.-143-5C>G (n.-143-5C>G)
c.188-5C>G (n.188-5C>G)
14g.53952181G>TCA389785697BMP4c.42C>A (p.Cys14Ter)
c.-143-5C>A (n.-143-5C>A)
c.188-5C>A (n.188-5C>A)
14g.53952182C>ACA389785698BMP4c.41G>T (p.Cys14Phe)
c.-143-6G>T (n.-143-6G>T)
c.188-6G>T (n.188-6G>T)
 gnomAD v4
14g.53952182C=CA2137819560BMP4c.41G= (p.Cys14=)
c.-143-6G= (n.-143-6G=)
c.188-6G= (n.188-6G=)
14g.53952182C>GCA389785699BMP4c.41G>C (p.Cys14Ser)
c.-143-6G>C (n.-143-6G>C)
c.188-6G>C (n.188-6G>C)
14g.53952182C>TCA7191849BMP4c.41G>A (p.Cys14Tyr)
c.-143-6G>A (n.-143-6G>A)
c.188-6G>A (n.188-6G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53952183A>CCA389785700BMP4c.40T>G (p.Cys14Gly)
c.-143-7T>G (n.-143-7T>G)
c.188-7T>G (n.188-7T>G)
14g.53952183A>GCA389785701BMP4c.40T>C (p.Cys14Arg)
c.-143-7T>C (n.-143-7T>C)
c.188-7T>C (n.188-7T>C)
14g.53952183A>TCA389785702BMP4c.40T>A (p.Cys14Ser)
c.-143-7T>A (n.-143-7T>A)
c.188-7T>A (n.188-7T>A)
14g.53952184T>ACA389785703BMP4c.39A>T (p.Leu13Phe)
c.-143-8A>T (n.-143-8A>T)
c.188-8A>T (n.188-8A>T)
14g.53952184T>CCA486480129BMP4c.39A>G (p.Leu13=)
c.-143-8A>G (n.-143-8A>G)
c.188-8A>G (n.188-8A>G)
 dbSNP gnomAD v2 gnomAD v4
14g.53952184T>GCA389785704BMP4c.39A>C (p.Leu13Phe)
c.-143-8A>C (n.-143-8A>C)
c.188-8A>C (n.188-8A>C)
14g.53952184T=CA2137819562BMP4c.39A= (p.Leu13=)
c.-143-8A= (n.-143-8A=)
c.188-8A= (n.188-8A=)
14g.53952185A>CCA389785705BMP4c.38T>G (p.Leu13Ter)
c.-143-9T>G (n.-143-9T>G)
c.188-9T>G (n.188-9T>G)
14g.53952185A>GCA389785706BMP4c.38T>C (p.Leu13Ser)
c.-143-9T>C (n.-143-9T>C)
c.188-9T>C (n.188-9T>C)
14g.53952185A>TCA389785707BMP4c.38T>A (p.Leu13Ter)
c.-143-9T>A (n.-143-9T>A)
c.188-9T>A (n.188-9T>A)
14g.53952186A>CCA389785708BMP4c.37T>G (p.Leu13Val)
c.-143-10T>G (n.-143-10T>G)
c.188-10T>G (n.188-10T>G)
14g.53952186A>GCA486480130BMP4c.37T>C (p.Leu13=)
c.-143-10T>C (n.-143-10T>C)
c.188-10T>C (n.188-10T>C)
14g.53952186A>TCA389785709BMP4c.37T>A (p.Leu13Ile)
c.-143-10T>A (n.-143-10T>A)
c.188-10T>A (n.188-10T>A)
14g.53952187T>ACA389785710BMP4c.36A>T (p.Leu12Phe)
c.-143-11A>T (n.-143-11A>T)
c.188-11A>T (n.188-11A>T)
14g.53952187T>CCA486480131BMP4c.36A>G (p.Leu12=)
c.-143-11A>G (n.-143-11A>G)
c.188-11A>G (n.188-11A>G)
 dbSNP gnomAD v4
14g.53952187T>GCA389785711BMP4c.36A>C (p.Leu12Phe)
c.-143-11A>C (n.-143-11A>C)
c.188-11A>C (n.188-11A>C)
14g.53952187T=CA2137819565BMP4c.36A= (p.Leu12=)
c.-143-11A= (n.-143-11A=)
c.188-11A= (n.188-11A=)
14g.53952188A>CCA389785712BMP4c.35T>G (p.Leu12Ter)
c.-143-12T>G (n.-143-12T>G)
c.188-12T>G (n.188-12T>G)
14g.53952188A>GCA389785713BMP4c.35T>C (p.Leu12Ser)
c.-143-12T>C (n.-143-12T>C)
c.188-12T>C (n.188-12T>C)
14g.53952188A>TCA389785714BMP4c.35T>A (p.Leu12Ter)
c.-143-12T>A (n.-143-12T>A)
c.188-12T>A (n.188-12T>A)
14g.53952189A>CCA389785715BMP4c.34T>G (p.Leu12Val)
c.-143-13T>G (n.-143-13T>G)
c.188-13T>G (n.188-13T>G)
14g.53952189A>GCA486480132BMP4c.34T>C (p.Leu12=)
c.-143-13T>C (n.-143-13T>C)
c.188-13T>C (n.188-13T>C)
14g.53952189A>TCA389785716BMP4c.34T>A (p.Leu12Ile)
c.-143-13T>A (n.-143-13T>A)
c.188-13T>A (n.188-13T>A)
14g.53952190A>CCA486480133BMP4c.33T>G (p.Val11=)
c.-143-14T>G (n.-143-14T>G)
c.188-14T>G (n.188-14T>G)
 gnomAD v4
14g.53952190A>GCA486480134BMP4c.33T>C (p.Val11=)
c.-143-14T>C (n.-143-14T>C)
c.188-14T>C (n.188-14T>C)
14g.53952190A>TCA486480135BMP4c.33T>A (p.Val11=)
c.-143-14T>A (n.-143-14T>A)
c.188-14T>A (n.188-14T>A)
14g.53952191A>CCA389785718BMP4c.32T>G (p.Val11Gly)
c.-143-15T>G (n.-143-15T>G)
c.188-15T>G (n.188-15T>G)
14g.53952191A>GCA389785719BMP4c.32T>C (p.Val11Ala)
c.-143-15T>C (n.-143-15T>C)
c.188-15T>C (n.188-15T>C)
14g.53952191A>TCA389785717BMP4c.32T>A (p.Val11Asp)
c.-143-15T>A (n.-143-15T>A)
c.188-15T>A (n.188-15T>A)
14g.53952192C>ACA389785720BMP4c.31G>T (p.Val11Phe)
c.-143-16G>T (n.-143-16G>T)
c.188-16G>T (n.188-16G>T)
 dbSNP
14g.53952192C=CA2137819567BMP4c.31G= (p.Val11=)
c.-143-16G= (n.-143-16G=)
c.188-16G= (n.188-16G=)
14g.53952192C>GCA389785721BMP4c.31G>C (p.Val11Leu)
c.-143-16G>C (n.-143-16G>C)
c.188-16G>C (n.188-16G>C)
14g.53952192C>TCA389785722BMP4c.31G>A (p.Val11Ile)
c.-143-16G>A (n.-143-16G>A)
c.188-16G>A (n.188-16G>A)
14g.53952193G>ACA486480136BMP4c.30C>T (p.Val10=)
c.-143-17C>T (n.-143-17C>T)
c.188-17C>T (n.188-17C>T)
14g.53952193G>CCA486480137BMP4c.30C>G (p.Val10=)
c.-143-17C>G (n.-143-17C>G)
c.188-17C>G (n.188-17C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.53952193G=CA2137819569BMP4c.30C= (p.Val10=)
c.-143-17C= (n.-143-17C=)
c.188-17C= (n.188-17C=)
14g.53952193G>TCA486480138BMP4c.30C>A (p.Val10=)
c.-143-17C>A (n.-143-17C>A)
c.188-17C>A (n.188-17C>A)
 gnomAD v4
14g.53952194A>CCA389785723BMP4c.29T>G (p.Val10Gly)
c.-143-18T>G (n.-143-18T>G)
c.188-18T>G (n.188-18T>G)
14g.53952194A>GCA389785724BMP4c.29T>C (p.Val10Ala)
c.-143-18T>C (n.-143-18T>C)
c.188-18T>C (n.188-18T>C)
14g.53952194A>TCA389785725BMP4c.29T>A (p.Val10Asp)
c.-143-18T>A (n.-143-18T>A)
c.188-18T>A (n.188-18T>A)
14g.53952195C>ACA389785728BMP4c.28G>T (p.Val10Phe)
c.-143-19G>T (n.-143-19G>T)
c.188-19G>T (n.188-19G>T)
 gnomAD v4
14g.53952195C>GCA389785726BMP4c.28G>C (p.Val10Leu)
c.-143-19G>C (n.-143-19G>C)
c.188-19G>C (n.188-19G>C)
14g.53952195C>TCA389785727BMP4c.28G>A (p.Val10Ile)
c.-143-19G>A (n.-143-19G>A)
c.188-19G>A (n.188-19G>A)
14g.53952196C>ACA389785729BMP4c.27G>T (p.Met9Ile)
c.-143-20G>T (n.-143-20G>T)
c.188-20G>T (n.188-20G>T)
 COSMIC
14g.53952196C>GCA389785730BMP4c.27G>C (p.Met9Ile)
c.-143-20G>C (n.-143-20G>C)
c.188-20G>C (n.188-20G>C)
14g.53952196C>TCA389785731BMP4c.27G>A (p.Met9Ile)
c.-143-20G>A (n.-143-20G>A)
c.188-20G>A (n.188-20G>A)

Number of alleles fetched