Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.53950612T>ACA389784252BMP4c.647A>T (p.Asp216Val)
c.458A>T (p.Asp153Val)
c.788A>T (p.Asp263Val)
14g.53950612T>CCA389784250BMP4c.647A>G (p.Asp216Gly)
c.458A>G (p.Asp153Gly)
c.788A>G (p.Asp263Gly)
14g.53950612T>GCA389784251BMP4c.647A>C (p.Asp216Ala)
c.458A>C (p.Asp153Ala)
c.788A>C (p.Asp263Ala)
14g.53950613C>ACA389784253BMP4c.646G>T (p.Asp216Tyr)
c.457G>T (p.Asp153Tyr)
c.787G>T (p.Asp263Tyr)
14g.53950613C>GCA389784254BMP4c.646G>C (p.Asp216His)
c.457G>C (p.Asp153His)
c.787G>C (p.Asp263His)
14g.53950613C>TCA389784255BMP4c.646G>A (p.Asp216Asn)
c.457G>A (p.Asp153Asn)
c.787G>A (p.Asp263Asn)
14g.53950613_53950614delinsCACA2137817497BMP4c.645_646delinsTG (p.Phe215=)
c.456_457delinsTG (p.Phe152=)
c.786_787delinsTG (p.Phe262=)
14g.53950614A>CCA389784256BMP4c.645T>G (p.Phe215Leu)
c.456T>G (p.Phe152Leu)
c.786T>G (p.Phe262Leu)
14g.53950614A>GCA486658862BMP4c.645T>C (p.Phe215=)
c.456T>C (p.Phe152=)
c.786T>C (p.Phe262=)
14g.53950614A>TCA389784257BMP4c.645T>A (p.Phe215Leu)
c.456T>A (p.Phe152Leu)
c.786T>A (p.Phe262Leu)
14g.53950617delCA2137817500BMP4c.645del (p.Phe215LeufsTer3)
c.456del (p.Phe152LeufsTer3)
c.786del (p.Phe262LeufsTer3)
 dbSNP
14g.53950616_53950617delCA2575530818BMP4c.644_645del (p.Phe215Ter)
c.455_456del (p.Phe152Ter)
c.785_786del (p.Phe262Ter)
14g.53950615A>CCA389784258BMP4c.644T>G (p.Phe215Cys)
c.455T>G (p.Phe152Cys)
c.785T>G (p.Phe262Cys)
14g.53950615A>GCA389784259BMP4c.644T>C (p.Phe215Ser)
c.455T>C (p.Phe152Ser)
c.785T>C (p.Phe262Ser)
14g.53950615A>TCA389784260BMP4c.644T>A (p.Phe215Tyr)
c.455T>A (p.Phe152Tyr)
c.785T>A (p.Phe262Tyr)
14g.53950616A=CA2137817502BMP4c.643T= (p.Phe215=)
c.454T= (p.Phe152=)
c.784T= (p.Phe262=)
14g.53950616A>CCA389784261BMP4c.643T>G (p.Phe215Val)
c.454T>G (p.Phe152Val)
c.784T>G (p.Phe262Val)
14g.53950616A>GCA389784262BMP4c.643T>C (p.Phe215Leu)
c.454T>C (p.Phe152Leu)
c.784T>C (p.Phe262Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.53950616A>TCA389784263BMP4c.643T>A (p.Phe215Ile)
c.454T>A (p.Phe152Ile)
c.784T>A (p.Phe262Ile)
14g.53950617A>CCA486658865BMP4c.642T>G (p.Thr214=)
c.453T>G (p.Thr151=)
c.783T>G (p.Thr261=)
14g.53950617A>GCA486658867BMP4c.642T>C (p.Thr214=)
c.453T>C (p.Thr151=)
c.783T>C (p.Thr261=)
14g.53950617A>TCA486658869BMP4c.642T>A (p.Thr214=)
c.453T>A (p.Thr151=)
c.783T>A (p.Thr261=)
14g.53950618G>ACA389784265BMP4c.641C>T (p.Thr214Ile)
c.452C>T (p.Thr151Ile)
c.782C>T (p.Thr261Ile)
14g.53950618G>CCA389784266BMP4c.641C>G (p.Thr214Ser)
c.452C>G (p.Thr151Ser)
c.782C>G (p.Thr261Ser)
14g.53950618G>TCA389784264BMP4c.641C>A (p.Thr214Asn)
c.452C>A (p.Thr151Asn)
c.782C>A (p.Thr261Asn)
14g.53950619T>ACA389784269BMP4c.640A>T (p.Thr214Ser)
c.451A>T (p.Thr151Ser)
c.781A>T (p.Thr261Ser)
14g.53950619T>CCA389784267BMP4c.640A>G (p.Thr214Ala)
c.451A>G (p.Thr151Ala)
c.781A>G (p.Thr261Ala)
14g.53950619T>GCA389784268BMP4c.640A>C (p.Thr214Pro)
c.451A>C (p.Thr151Pro)
c.781A>C (p.Thr261Pro)
14g.53950620T>ACA389784270BMP4c.639A>T (p.Glu213Asp)
c.450A>T (p.Glu150Asp)
c.780A>T (p.Glu260Asp)
14g.53950620T>CCA486658244BMP4c.639A>G (p.Glu213=)
c.450A>G (p.Glu150=)
c.780A>G (p.Glu260=)
14g.53950620T>GCA389784271BMP4c.639A>C (p.Glu213Asp)
c.450A>C (p.Glu150Asp)
c.780A>C (p.Glu260Asp)
14g.53950621T>ACA389784272BMP4c.638A>T (p.Glu213Val)
c.449A>T (p.Glu150Val)
c.779A>T (p.Glu260Val)
14g.53950621T>CCA389784273BMP4c.638A>G (p.Glu213Gly)
c.449A>G (p.Glu150Gly)
c.779A>G (p.Glu260Gly)
14g.53950621T>GCA389784274BMP4c.638A>C (p.Glu213Ala)
c.449A>C (p.Glu150Ala)
c.779A>C (p.Glu260Ala)
14g.53950622C>ACA389784275BMP4c.637G>T (p.Glu213Ter)
c.495G>T (n.495G>T)
c.448G>T (p.Glu150Ter)
c.778G>T (p.Glu260Ter)
14g.53950622C>GCA389784276BMP4c.637G>C (p.Glu213Gln)
c.495G>C (n.495G>C)
c.448G>C (p.Glu150Gln)
c.778G>C (p.Glu260Gln)
14g.53950622C>TCA389784277BMP4c.637G>A (p.Glu213Lys)
c.495G>A (n.495G>A)
c.448G>A (p.Glu150Lys)
c.778G>A (p.Glu260Lys)
14g.53950623C>ACA389784278BMP4c.636G>T (p.Trp212Cys)
c.494G>T (n.494G>T)
c.447G>T (p.Trp149Cys)
c.777G>T (p.Trp259Cys)
14g.53950623C>GCA389784279BMP4c.636G>C (p.Trp212Cys)
c.494G>C (n.494G>C)
c.447G>C (p.Trp149Cys)
c.777G>C (p.Trp259Cys)
14g.53950623C>TCA389784280BMP4c.636G>A (p.Trp212Ter)
c.494G>A (n.494G>A)
c.447G>A (p.Trp149Ter)
c.777G>A (p.Trp259Ter)
14g.53950624C>ACA389784283BMP4c.635G>T (p.Trp212Leu)
c.493G>T (n.493G>T)
c.446G>T (p.Trp149Leu)
c.776G>T (p.Trp259Leu)
14g.53950624C=CA2137817507BMP4c.635G= (p.Trp212=)
c.493G= (n.493G=)
c.446G= (p.Trp149=)
c.776G= (p.Trp259=)
14g.53950624C>GCA389784281BMP4c.635G>C (p.Trp212Ser)
c.493G>C (n.493G>C)
c.446G>C (p.Trp149Ser)
c.776G>C (p.Trp259Ser)
14g.53950624C>TCA389784282BMP4c.635G>A (p.Trp212Ter)
c.493G>A (n.493G>A)
c.446G>A (p.Trp149Ter)
c.776G>A (p.Trp259Ter)
 ClinVar dbSNP
14g.53950625A>CCA389784284BMP4c.634T>G (p.Trp212Gly)
c.492T>G (n.492T>G)
c.445T>G (p.Trp149Gly)
c.775T>G (p.Trp259Gly)
14g.53950625A>GCA389784285BMP4c.634T>C (p.Trp212Arg)
c.492T>C (n.492T>C)
c.445T>C (p.Trp149Arg)
c.775T>C (p.Trp259Arg)
14g.53950625A>TCA389784286BMP4c.634T>A (p.Trp212Arg)
c.492T>A (n.492T>A)
c.445T>A (p.Trp149Arg)
c.775T>A (p.Trp259Arg)
14g.53950626C>ACA486658252BMP4c.633G>T (p.Arg211=)
c.491G>T (n.491G>T)
c.444G>T (p.Arg148=)
c.774G>T (p.Arg258=)
 dbSNP
14g.53950626C=CA2137817512BMP4c.633G= (p.Arg211=)
c.491G= (n.491G=)
c.444G= (p.Arg148=)
c.774G= (p.Arg258=)
14g.53950626C>GCA486658253BMP4c.633G>C (p.Arg211=)
c.491G>C (n.491G>C)
c.444G>C (p.Arg148=)
c.774G>C (p.Arg258=)
14g.53950626C>TCA486658254BMP4c.633G>A (p.Arg211=)
c.491G>A (n.491G>A)
c.444G>A (p.Arg148=)
c.774G>A (p.Arg258=)
 dbSNP gnomAD v4
14g.53950627C>ACA389784287BMP4c.632G>T (p.Arg211Leu)
c.490G>T (n.490G>T)
c.443G>T (p.Arg148Leu)
c.773G>T (p.Arg258Leu)
14g.53950627C=CA2137817515BMP4c.632G= (p.Arg211=)
c.490G= (n.490G=)
c.443G= (p.Arg148=)
c.773G= (p.Arg258=)
14g.53950627C>GCA389784288BMP4c.632G>C (p.Arg211Pro)
c.490G>C (n.490G>C)
c.443G>C (p.Arg148Pro)
c.773G>C (p.Arg258Pro)
14g.53950627C>TCA7191703BMP4c.632G>A (p.Arg211Gln)
c.490G>A (n.490G>A)
c.443G>A (p.Arg148Gln)
c.773G>A (p.Arg258Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.53950628G>ACA7191704BMP4c.631C>T (p.Arg211Trp)
c.489C>T (n.489C>T)
c.442C>T (p.Arg148Trp)
c.772C>T (p.Arg258Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.53950628G>CCA389784289BMP4c.631C>G (p.Arg211Gly)
c.489C>G (n.489C>G)
c.442C>G (p.Arg148Gly)
c.772C>G (p.Arg258Gly)
 dbSNP gnomAD v3 gnomAD v4
14g.53950628G=CA2137817521BMP4c.631C= (p.Arg211=)
c.489C= (n.489C=)
c.442C= (p.Arg148=)
c.772C= (p.Arg258=)
14g.53950628G>TCA486658257BMP4c.631C>A (p.Arg211=)
c.489C>A (n.489C>A)
c.442C>A (p.Arg148=)
c.772C>A (p.Arg258=)
14g.53950629T>ACA486658260BMP4c.630A>T (p.Thr210=)
c.488A>T (n.488A>T)
c.441A>T (p.Thr147=)
c.771A>T (p.Thr257=)
14g.53950629T>CCA486658259BMP4c.630A>G (p.Thr210=)
c.488A>G (n.488A>G)
c.441A>G (p.Thr147=)
c.771A>G (p.Thr257=)
14g.53950629T>GCA486658262BMP4c.630A>C (p.Thr210=)
c.488A>C (n.488A>C)
c.441A>C (p.Thr147=)
c.771A>C (p.Thr257=)
14g.53950630G>ACA389784290BMP4c.629C>T (p.Thr210Ile)
c.487C>T (n.487C>T)
c.440C>T (p.Thr147Ile)
c.770C>T (p.Thr257Ile)
14g.53950630G>CCA389784291BMP4c.629C>G (p.Thr210Arg)
c.487C>G (n.487C>G)
c.440C>G (p.Thr147Arg)
c.770C>G (p.Thr257Arg)
14g.53950630G>TCA389784292BMP4c.629C>A (p.Thr210Lys)
c.487C>A (n.487C>A)
c.440C>A (p.Thr147Lys)
c.770C>A (p.Thr257Lys)
14g.53950631T>ACA389784295BMP4c.628A>T (p.Thr210Ser)
c.486A>T (n.486A>T)
c.439A>T (p.Thr147Ser)
c.769A>T (p.Thr257Ser)
14g.53950631T>CCA389784294BMP4c.628A>G (p.Thr210Ala)
c.486A>G (n.486A>G)
c.439A>G (p.Thr147Ala)
c.769A>G (p.Thr257Ala)
14g.53950631T>GCA389784293BMP4c.628A>C (p.Thr210Pro)
c.486A>C (n.486A>C)
c.439A>C (p.Thr147Pro)
c.769A>C (p.Thr257Pro)
14g.53950632C>ACA486658263BMP4c.627G>T (p.Val209=)
c.485G>T (n.485G>T)
c.438G>T (p.Val146=)
c.768G>T (p.Val256=)
14g.53950632C>GCA486658264BMP4c.627G>C (p.Val209=)
c.485G>C (n.485G>C)
c.438G>C (p.Val146=)
c.768G>C (p.Val256=)
14g.53950632C>TCA486658266BMP4c.627G>A (p.Val209=)
c.485G>A (n.485G>A)
c.438G>A (p.Val146=)
c.768G>A (p.Val256=)
14g.53950633A>CCA389784296BMP4c.626T>G (p.Val209Gly)
c.484T>G (n.484T>G)
c.437T>G (p.Val146Gly)
c.767T>G (p.Val256Gly)
14g.53950633A>GCA389784297BMP4c.626T>C (p.Val209Ala)
c.484T>C (n.484T>C)
c.437T>C (p.Val146Ala)
c.767T>C (p.Val256Ala)
14g.53950633A>TCA389784298BMP4c.626T>A (p.Val209Glu)
c.484T>A (n.484T>A)
c.437T>A (p.Val146Glu)
c.767T>A (p.Val256Glu)
14g.53950634C>ACA389784299BMP4c.625G>T (p.Val209Leu)
c.483G>T (n.483G>T)
c.436G>T (p.Val146Leu)
c.766G>T (p.Val256Leu)
14g.53950634C=CA2137817526BMP4c.625G= (p.Val209=)
c.483G= (n.483G=)
c.436G= (p.Val146=)
c.766G= (p.Val256=)
14g.53950634C>GCA389784300BMP4c.625G>C (p.Val209Leu)
c.483G>C (n.483G>C)
c.436G>C (p.Val146Leu)
c.766G>C (p.Val256Leu)
14g.53950634C>TCA389784301BMP4c.625G>A (p.Val209Met)
c.483G>A (n.483G>A)
c.436G>A (p.Val146Met)
c.766G>A (p.Val256Met)
 dbSNP gnomAD v4
14g.53950635A=CA2137817528BMP4c.624T= (p.Asn208=)
c.482T= (n.482T=)
c.435T= (p.Asn145=)
c.765T= (p.Asn255=)
14g.53950635A>CCA389784302BMP4c.624T>G (p.Asn208Lys)
c.482T>G (n.482T>G)
c.435T>G (p.Asn145Lys)
c.765T>G (p.Asn255Lys)
14g.53950635A>GCA7191705BMP4c.624T>C (p.Asn208=)
c.482T>C (n.482T>C)
c.435T>C (p.Asn145=)
c.765T>C (p.Asn255=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53950635A>TCA389784303BMP4c.624T>A (p.Asn208Lys)
c.482T>A (n.482T>A)
c.435T>A (p.Asn145Lys)
c.765T>A (p.Asn255Lys)
14g.53950636T>ACA389784304BMP4c.623A>T (p.Asn208Ile)
c.481A>T (n.481A>T)
c.434A>T (p.Asn145Ile)
c.764A>T (p.Asn255Ile)
14g.53950636T>CCA7191706BMP4c.623A>G (p.Asn208Ser)
c.481A>G (n.481A>G)
c.434A>G (p.Asn145Ser)
c.764A>G (p.Asn255Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53950636T>GCA389784305BMP4c.623A>C (p.Asn208Thr)
c.481A>C (n.481A>C)
c.434A>C (p.Asn145Thr)
c.764A>C (p.Asn255Thr)
14g.53950636T=CA2137817534BMP4c.623A= (p.Asn208=)
c.481A= (n.481A=)
c.434A= (p.Asn145=)
c.764A= (p.Asn255=)
14g.53950637T>ACA389784306BMP4c.622A>T (p.Asn208Tyr)
c.480A>T (n.480A>T)
c.433A>T (p.Asn145Tyr)
c.763A>T (p.Asn255Tyr)
14g.53950637T>CCA389784307BMP4c.622A>G (p.Asn208Asp)
c.480A>G (n.480A>G)
c.433A>G (p.Asn145Asp)
c.763A>G (p.Asn255Asp)
14g.53950637T>GCA7191707BMP4c.622A>C (p.Asn208His)
c.480A>C (n.480A>C)
c.433A>C (p.Asn145His)
c.763A>C (p.Asn255His)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.53950637T=CA2137817536BMP4c.622A= (p.Asn208=)
c.480A= (n.480A=)
c.433A= (p.Asn145=)
c.763A= (p.Asn255=)
14g.53950638G>ACA486658275BMP4c.621C>T (p.His207=)
c.479C>T (n.479C>T)
c.432C>T (p.His144=)
c.762C>T (p.His254=)
14g.53950638G>CCA389784308BMP4c.621C>G (p.His207Gln)
c.479C>G (n.479C>G)
c.432C>G (p.His144Gln)
c.762C>G (p.His254Gln)
14g.53950638G=CA2137817539BMP4c.621C= (p.His207=)
c.479C= (n.479C=)
c.432C= (p.His144=)
c.762C= (p.His254=)
14g.53950638G>TCA7191708BMP4c.621C>A (p.His207Gln)
c.479C>A (n.479C>A)
c.432C>A (p.His144Gln)
c.762C>A (p.His254Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.53950639T>ACA389784309BMP4c.620A>T (p.His207Leu)
c.478A>T (n.478A>T)
c.431A>T (p.His144Leu)
c.761A>T (p.His254Leu)
14g.53950639T>CCA389784310BMP4c.620A>G (p.His207Arg)
c.478A>G (n.478A>G)
c.431A>G (p.His144Arg)
c.761A>G (p.His254Arg)
14g.53950639T>GCA389784311BMP4c.620A>C (p.His207Pro)
c.478A>C (n.478A>C)
c.431A>C (p.His144Pro)
c.761A>C (p.His254Pro)
14g.53950640G>ACA389784314BMP4c.619C>T (p.His207Tyr)
c.477C>T (n.477C>T)
c.430C>T (p.His144Tyr)
c.760C>T (p.His254Tyr)
 dbSNP
14g.53950640G>CCA389784312BMP4c.619C>G (p.His207Asp)
c.477C>G (n.477C>G)
c.430C>G (p.His144Asp)
c.760C>G (p.His254Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.53950640G=CA2137817543BMP4c.619C= (p.His207=)
c.477C= (n.477C=)
c.430C= (p.His144=)
c.760C= (p.His254=)
14g.53950640G>TCA389784313BMP4c.619C>A (p.His207Asn)
c.477C>A (n.477C>A)
c.430C>A (p.His144Asn)
c.760C>A (p.His254Asn)
 dbSNP gnomAD v2
14g.53950641G>ACA486658278BMP4c.618C>T (p.His206=)
c.476C>T (n.476C>T)
c.429C>T (p.His143=)
c.759C>T (p.His253=)
14g.53950641G>CCA389784315BMP4c.618C>G (p.His206Gln)
c.476C>G (n.476C>G)
c.429C>G (p.His143Gln)
c.759C>G (p.His253Gln)
14g.53950641G>TCA389784316BMP4c.618C>A (p.His206Gln)
c.476C>A (n.476C>A)
c.429C>A (p.His143Gln)
c.759C>A (p.His253Gln)
14g.53950642T>ACA389784317BMP4c.617A>T (p.His206Leu)
c.475A>T (n.475A>T)
c.428A>T (p.His143Leu)
c.758A>T (p.His253Leu)
14g.53950642T>CCA389784318BMP4c.617A>G (p.His206Arg)
c.475A>G (n.475A>G)
c.428A>G (p.His143Arg)
c.758A>G (p.His253Arg)
14g.53950642T>GCA389784319BMP4c.617A>C (p.His206Pro)
c.475A>C (n.475A>C)
c.428A>C (p.His143Pro)
c.758A>C (p.His253Pro)
14g.53950643G>ACA389784322BMP4c.616C>T (p.His206Tyr)
c.474C>T (n.474C>T)
c.427C>T (p.His143Tyr)
c.757C>T (p.His253Tyr)
14g.53950643G>CCA389784321BMP4c.616C>G (p.His206Asp)
c.474C>G (n.474C>G)
c.427C>G (p.His143Asp)
c.757C>G (p.His253Asp)
14g.53950643G>TCA389784320BMP4c.616C>A (p.His206Asn)
c.474C>A (n.474C>A)
c.427C>A (p.His143Asn)
c.757C>A (p.His253Asn)
14g.53950644G>ACA486658284BMP4c.615C>T (p.Val205=)
c.473C>T (n.473C>T)
c.426C>T (p.Val142=)
c.756C>T (p.Val252=)
14g.53950644G>CCA486658285BMP4c.615C>G (p.Val205=)
c.473C>G (n.473C>G)
c.426C>G (p.Val142=)
c.756C>G (p.Val252=)
14g.53950644G=CA2137817548BMP4c.615C= (p.Val205=)
c.473C= (n.473C=)
c.426C= (p.Val142=)
c.756C= (p.Val252=)
14g.53950644G>TCA7191709BMP4c.615C>A (p.Val205=)
c.473C>A (n.473C>A)
c.426C>A (p.Val142=)
c.756C>A (p.Val252=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53950645A=CA2137817552BMP4c.614T= (p.Val205=)
c.472T= (n.472T=)
c.425T= (p.Val142=)
c.755T= (p.Val252=)
14g.53950645A>CCA389784323BMP4c.614T>G (p.Val205Gly)
c.472T>G (n.472T>G)
c.425T>G (p.Val142Gly)
c.755T>G (p.Val252Gly)
14g.53950645A>GCA389784324BMP4c.614T>C (p.Val205Ala)
c.472T>C (n.472T>C)
c.425T>C (p.Val142Ala)
c.755T>C (p.Val252Ala)
 ClinVar dbSNP
14g.53950645A>TCA389784325BMP4c.614T>A (p.Val205Asp)
c.472T>A (n.472T>A)
c.425T>A (p.Val142Asp)
c.755T>A (p.Val252Asp)
14g.53950646C>ACA389784326BMP4c.613G>T (p.Val205Phe)
c.471G>T (n.471G>T)
c.424G>T (p.Val142Phe)
c.754G>T (p.Val252Phe)
14g.53950646C>GCA389784327BMP4c.613G>C (p.Val205Leu)
c.471G>C (n.471G>C)
c.424G>C (p.Val142Leu)
c.754G>C (p.Val252Leu)
14g.53950646C>TCA389784328BMP4c.613G>A (p.Val205Ile)
c.471G>A (n.471G>A)
c.424G>A (p.Val142Ile)
c.754G>A (p.Val252Ile)
14g.53950647C>ACA486658290BMP4c.612G>T (p.Leu204=)
c.470G>T (n.470G>T)
c.423G>T (p.Leu141=)
c.753G>T (p.Leu251=)
14g.53950647C=CA2137817558BMP4c.612G= (p.Leu204=)
c.470G= (n.470G=)
c.423G= (p.Leu141=)
c.753G= (p.Leu251=)
14g.53950647C>GCA486658291BMP4c.612G>C (p.Leu204=)
c.470G>C (n.470G>C)
c.423G>C (p.Leu141=)
c.753G>C (p.Leu251=)
14g.53950647C>TCA486658292BMP4c.612G>A (p.Leu204=)
c.470G>A (n.470G>A)
c.423G>A (p.Leu141=)
c.753G>A (p.Leu251=)
 dbSNP gnomAD v4
14g.53950648A>CCA389784329BMP4c.611T>G (p.Leu204Arg)
c.469T>G (n.469T>G)
c.422T>G (p.Leu141Arg)
c.752T>G (p.Leu251Arg)
 gnomAD v4
14g.53950648A>GCA389784330BMP4c.611T>C (p.Leu204Pro)
c.469T>C (n.469T>C)
c.422T>C (p.Leu141Pro)
c.752T>C (p.Leu251Pro)
14g.53950648A>TCA389784331BMP4c.611T>A (p.Leu204Gln)
c.469T>A (n.469T>A)
c.422T>A (p.Leu141Gln)
c.752T>A (p.Leu251Gln)
14g.53950649G>ACA486658297BMP4c.610C>T (p.Leu204=)
c.468C>T (n.468C>T)
c.421C>T (p.Leu141=)
c.751C>T (p.Leu251=)
14g.53950649G>CCA389784332BMP4c.610C>G (p.Leu204Val)
c.468C>G (n.468C>G)
c.421C>G (p.Leu141Val)
c.751C>G (p.Leu251Val)
14g.53950649G>TCA389784333BMP4c.610C>A (p.Leu204Met)
c.468C>A (n.468C>A)
c.421C>A (p.Leu141Met)
c.751C>A (p.Leu251Met)
14g.53950650T>ACA389784334BMP4c.609A>T (p.Arg203Ser)
c.467A>T (n.467A>T)
c.420A>T (p.Arg140Ser)
c.750A>T (p.Arg250Ser)
14g.53950650T>CCA486658303BMP4c.609A>G (p.Arg203=)
c.467A>G (n.467A>G)
c.420A>G (p.Arg140=)
c.750A>G (p.Arg250=)
14g.53950650T>GCA389784335BMP4c.609A>C (p.Arg203Ser)
c.467A>C (n.467A>C)
c.420A>C (p.Arg140Ser)
c.750A>C (p.Arg250Ser)
14g.53950650_53950653delCA2801617635BMP4c.606_609del (p.Arg203TrpfsTer6)
c.464_467del (n.464_467del)
c.417_420del (p.Arg140TrpfsTer6)
c.747_750del (p.Arg250TrpfsTer6)
14g.53950651C>ACA389784338BMP4c.608G>T (p.Arg203Ile)
c.466G>T (n.466G>T)
c.419G>T (p.Arg140Ile)
c.749G>T (p.Arg250Ile)
14g.53950651C>GCA389784337BMP4c.608G>C (p.Arg203Thr)
c.466G>C (n.466G>C)
c.419G>C (p.Arg140Thr)
c.749G>C (p.Arg250Thr)
14g.53950651C>TCA389784336BMP4c.608G>A (p.Arg203Lys)
c.466G>A (n.466G>A)
c.419G>A (p.Arg140Lys)
c.749G>A (p.Arg250Lys)
14g.53950652T>ACA389784339BMP4c.607A>T (p.Arg203Ter)
c.465A>T (n.465A>T)
c.418A>T (p.Arg140Ter)
c.748A>T (p.Arg250Ter)
14g.53950652T>CCA389784340BMP4c.607A>G (p.Arg203Gly)
c.465A>G (n.465A>G)
c.418A>G (p.Arg140Gly)
c.748A>G (p.Arg250Gly)
14g.53950652T>GCA486658308BMP4c.607A>C (p.Arg203=)
c.465A>C (n.465A>C)
c.418A>C (p.Arg140=)
c.748A>C (p.Arg250=)
14g.53950653C>ACA486658312BMP4c.606G>T (p.Thr202=)
c.464G>T (n.464G>T)
c.417G>T (p.Thr139=)
c.747G>T (p.Thr249=)
14g.53950653C=CA2137817563BMP4c.606G= (p.Thr202=)
c.464G= (n.464G=)
c.417G= (p.Thr139=)
c.747G= (p.Thr249=)
14g.53950653C>GCA486658310BMP4c.606G>C (p.Thr202=)
c.464G>C (n.464G>C)
c.417G>C (p.Thr139=)
c.747G>C (p.Thr249=)
14g.53950653C>TCA7191710BMP4c.606G>A (p.Thr202=)
c.464G>A (n.464G>A)
c.417G>A (p.Thr139=)
c.747G>A (p.Thr249=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.53950654G>ACA7191711BMP4c.605C>T (p.Thr202Met)
c.463C>T (n.463C>T)
c.416C>T (p.Thr139Met)
c.746C>T (p.Thr249Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53950654G>CCA389784341BMP4c.605C>G (p.Thr202Arg)
c.463C>G (n.463C>G)
c.416C>G (p.Thr139Arg)
c.746C>G (p.Thr249Arg)
14g.53950654G=CA2137817566BMP4c.605C= (p.Thr202=)
c.463C= (n.463C=)
c.416C= (p.Thr139=)
c.746C= (p.Thr249=)
14g.53950654G>TCA389784342BMP4c.605C>A (p.Thr202Lys)
c.463C>A (n.463C>A)
c.416C>A (p.Thr139Lys)
c.746C>A (p.Thr249Lys)
14g.53950655delCA2801617636BMP4c.604del (p.Thr202ArgfsTer8)
c.462del (n.462del)
c.415del (p.Thr139ArgfsTer8)
c.745del (p.Thr249ArgfsTer8)
14g.53950655T>ACA389784343BMP4c.604A>T (p.Thr202Ser)
c.462A>T (n.462A>T)
c.415A>T (p.Thr139Ser)
c.745A>T (p.Thr249Ser)
14g.53950655T>CCA389784344BMP4c.604A>G (p.Thr202Ala)
c.462A>G (n.462A>G)
c.415A>G (p.Thr139Ala)
c.745A>G (p.Thr249Ala)
14g.53950655T>GCA389784345BMP4c.604A>C (p.Thr202Pro)
c.462A>C (n.462A>C)
c.415A>C (p.Thr139Pro)
c.745A>C (p.Thr249Pro)
14g.53950656G>ACA486658320BMP4c.603C>T (p.Asp201=)
c.461C>T (n.461C>T)
c.414C>T (p.Asp138=)
c.744C>T (p.Asp248=)
14g.53950656G>CCA389784346BMP4c.603C>G (p.Asp201Glu)
c.461C>G (n.461C>G)
c.414C>G (p.Asp138Glu)
c.744C>G (p.Asp248Glu)
14g.53950656G>TCA389784347BMP4c.603C>A (p.Asp201Glu)
c.461C>A (n.461C>A)
c.414C>A (p.Asp138Glu)
c.744C>A (p.Asp248Glu)
14g.53950657T>ACA389784348BMP4c.602A>T (p.Asp201Val)
c.460A>T (n.460A>T)
c.413A>T (p.Asp138Val)
c.743A>T (p.Asp248Val)
14g.53950657T>CCA389784349BMP4c.602A>G (p.Asp201Gly)
c.460A>G (n.460A>G)
c.413A>G (p.Asp138Gly)
c.743A>G (p.Asp248Gly)
14g.53950657T>GCA389784350BMP4c.602A>C (p.Asp201Ala)
c.460A>C (n.460A>C)
c.413A>C (p.Asp138Ala)
c.743A>C (p.Asp248Ala)
 dbSNP gnomAD v2
14g.53950657T=CA2137817571BMP4c.602A= (p.Asp201=)
c.460A= (n.460A=)
c.413A= (p.Asp138=)
c.743A= (p.Asp248=)
14g.53950658C>ACA389784352BMP4c.601G>T (p.Asp201Tyr)
c.459G>T (n.459G>T)
c.412G>T (p.Asp138Tyr)
c.742G>T (p.Asp248Tyr)
14g.53950658C>GCA389784353BMP4c.601G>C (p.Asp201His)
c.459G>C (n.459G>C)
c.412G>C (p.Asp138His)
c.742G>C (p.Asp248His)
14g.53950658C>TCA389784351BMP4c.601G>A (p.Asp201Asn)
c.459G>A (n.459G>A)
c.412G>A (p.Asp138Asn)
c.742G>A (p.Asp248Asn)
14g.53950659C>ACA486658324BMP4c.600G>T (p.Leu200=)
c.458G>T (n.458G>T)
c.411G>T (p.Leu137=)
c.741G>T (p.Leu247=)
14g.53950659C>GCA486658327BMP4c.600G>C (p.Leu200=)
c.458G>C (n.458G>C)
c.411G>C (p.Leu137=)
c.741G>C (p.Leu247=)
14g.53950659C>TCA486658330BMP4c.600G>A (p.Leu200=)
c.458G>A (n.458G>A)
c.411G>A (p.Leu137=)
c.741G>A (p.Leu247=)
14g.53950660A>CCA389784354BMP4c.599T>G (p.Leu200Arg)
c.457T>G (n.457T>G)
c.410T>G (p.Leu137Arg)
c.740T>G (p.Leu247Arg)
14g.53950660A>GCA389784355BMP4c.599T>C (p.Leu200Pro)
c.457T>C (n.457T>C)
c.410T>C (p.Leu137Pro)
c.740T>C (p.Leu247Pro)
14g.53950660A>TCA389784356BMP4c.599T>A (p.Leu200Gln)
c.457T>A (n.457T>A)
c.410T>A (p.Leu137Gln)
c.740T>A (p.Leu247Gln)
14g.53950660_53950669delCA2801617637BMP4c.590_599del (p.Thr197ArgfsTer10)
c.448_457del (n.448_457del)
c.401_410del (p.Thr134ArgfsTer10)
c.731_740del (p.Thr244ArgfsTer10)
14g.53950661G>ACA486658333BMP4c.598C>T (p.Leu200=)
c.456C>T (n.456C>T)
c.409C>T (p.Leu137=)
c.739C>T (p.Leu247=)
14g.53950661G>CCA389784357BMP4c.598C>G (p.Leu200Val)
c.456C>G (n.456C>G)
c.409C>G (p.Leu137Val)
c.739C>G (p.Leu247Val)
14g.53950661G>TCA389784358BMP4c.598C>A (p.Leu200Met)
c.456C>A (n.456C>A)
c.409C>A (p.Leu137Met)
c.739C>A (p.Leu247Met)
14g.53950662T>ACA486658334BMP4c.597A>T (p.Leu199=)
c.455A>T (n.455A>T)
c.408A>T (p.Leu136=)
c.738A>T (p.Leu246=)
14g.53950662T>CCA486658335BMP4c.597A>G (p.Leu199=)
c.455A>G (n.455A>G)
c.408A>G (p.Leu136=)
c.738A>G (p.Leu246=)
 dbSNP gnomAD v4
14g.53950662T>GCA486658336BMP4c.597A>C (p.Leu199=)
c.455A>C (n.455A>C)
c.408A>C (p.Leu136=)
c.738A>C (p.Leu246=)
 dbSNP gnomAD v3 gnomAD v4
14g.53950662T=CA2137817573BMP4c.597A= (p.Leu199=)
c.455A= (n.455A=)
c.408A= (p.Leu136=)
c.738A= (p.Leu246=)
14g.53950663A>CCA389784359BMP4c.596T>G (p.Leu199Arg)
c.454T>G (n.454T>G)
c.407T>G (p.Leu136Arg)
c.737T>G (p.Leu246Arg)
14g.53950663A>GCA389784360BMP4c.596T>C (p.Leu199Pro)
c.454T>C (n.454T>C)
c.407T>C (p.Leu136Pro)
c.737T>C (p.Leu246Pro)
14g.53950663A>TCA389784361BMP4c.596T>A (p.Leu199Gln)
c.454T>A (n.454T>A)
c.407T>A (p.Leu136Gln)
c.737T>A (p.Leu246Gln)
14g.53950664G>ACA486658337BMP4c.595C>T (p.Leu199=)
c.453C>T (n.453C>T)
c.406C>T (p.Leu136=)
c.736C>T (p.Leu246=)
14g.53950664G>CCA389784362BMP4c.595C>G (p.Leu199Val)
c.453C>G (n.453C>G)
c.406C>G (p.Leu136Val)
c.736C>G (p.Leu246Val)
14g.53950664G>TCA389784363BMP4c.595C>A (p.Leu199Ile)
c.453C>A (n.453C>A)
c.406C>A (p.Leu136Ile)
c.736C>A (p.Leu246Ile)
 gnomAD v4
14g.53950665T>ACA486658340BMP4c.594A>T (p.Arg198=)
c.452A>T (n.452A>T)
c.405A>T (p.Arg135=)
c.735A>T (p.Arg245=)
14g.53950665T>CCA486658343BMP4c.594A>G (p.Arg198=)
c.452A>G (n.452A>G)
c.405A>G (p.Arg135=)
c.735A>G (p.Arg245=)
14g.53950665T>GCA486658344BMP4c.594A>C (p.Arg198=)
c.452A>C (n.452A>C)
c.405A>C (p.Arg135=)
c.735A>C (p.Arg245=)
14g.53950666C>ACA389784364BMP4c.593G>T (p.Arg198Leu)
c.451G>T (n.451G>T)
c.404G>T (p.Arg135Leu)
c.734G>T (p.Arg245Leu)
 dbSNP gnomAD v4
14g.53950666C=CA2137817577BMP4c.593G= (p.Arg198=)
c.451G= (n.451G=)
c.404G= (p.Arg135=)
c.734G= (p.Arg245=)
14g.53950666C>GCA389784365BMP4c.593G>C (p.Arg198Pro)
c.451G>C (n.451G>C)
c.404G>C (p.Arg135Pro)
c.734G>C (p.Arg245Pro)
14g.53950666C>TCA7191712BMP4c.593G>A (p.Arg198Gln)
c.451G>A (n.451G>A)
c.404G>A (p.Arg135Gln)
c.734G>A (p.Arg245Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.53950667G>ACA128505BMP4c.592C>T (p.Arg198Ter)
c.450C>T (n.450C>T)
c.403C>T (p.Arg135Ter)
c.733C>T (p.Arg245Ter)
 ClinVar dbSNP COSMIC
14g.53950667G>CCA7191713BMP4c.592C>G (p.Arg198Gly)
c.450C>G (n.450C>G)
c.403C>G (p.Arg135Gly)
c.733C>G (p.Arg245Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.53950667G=CA2137817582BMP4c.592C= (p.Arg198=)
c.450C= (n.450C=)
c.403C= (p.Arg135=)
c.733C= (p.Arg245=)
14g.53950667G>TCA486658347BMP4c.592C>A (p.Arg198=)
c.450C>A (n.450C>A)
c.403C>A (p.Arg135=)
c.733C>A (p.Arg245=)
 dbSNP
14g.53950668T>ACA486658349BMP4c.591A>T (p.Thr197=)
c.449A>T (n.449A>T)
c.402A>T (p.Thr134=)
c.732A>T (p.Thr244=)
14g.53950668T>CCA486658350BMP4c.591A>G (p.Thr197=)
c.449A>G (n.449A>G)
c.402A>G (p.Thr134=)
c.732A>G (p.Thr244=)
14g.53950668T>GCA486658351BMP4c.591A>C (p.Thr197=)
c.449A>C (n.449A>C)
c.402A>C (p.Thr134=)
c.732A>C (p.Thr244=)
14g.53950669G>ACA7191714BMP4c.590C>T (p.Thr197Ile)
c.448C>T (n.448C>T)
c.401C>T (p.Thr134Ile)
c.731C>T (p.Thr244Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53950669G>CCA389784366BMP4c.590C>G (p.Thr197Arg)
c.448C>G (n.448C>G)
c.401C>G (p.Thr134Arg)
c.731C>G (p.Thr244Arg)
14g.53950669G=CA2137817589BMP4c.590C= (p.Thr197=)
c.448C= (n.448C=)
c.401C= (p.Thr134=)
c.731C= (p.Thr244=)
14g.53950669G>TCA389784367BMP4c.590C>A (p.Thr197Lys)
c.448C>A (n.448C>A)
c.401C>A (p.Thr134Lys)
c.731C>A (p.Thr244Lys)
14g.53950670T>ACA389784368BMP4c.589A>T (p.Thr197Ser)
c.447A>T (n.447A>T)
c.400A>T (p.Thr134Ser)
c.730A>T (p.Thr244Ser)
14g.53950670T>CCA389784369BMP4c.589A>G (p.Thr197Ala)
c.447A>G (n.447A>G)
c.400A>G (p.Thr134Ala)
c.730A>G (p.Thr244Ala)
14g.53950670T>GCA389784370BMP4c.589A>C (p.Thr197Pro)
c.447A>C (n.447A>C)
c.400A>C (p.Thr134Pro)
c.730A>C (p.Thr244Pro)
14g.53950671G>ACA486658356BMP4c.588C>T (p.Ile196=)
c.446C>T (n.446C>T)
c.399C>T (p.Ile133=)
c.729C>T (p.Ile243=)
14g.53950671G>CCA389784371BMP4c.588C>G (p.Ile196Met)
c.446C>G (n.446C>G)
c.399C>G (p.Ile133Met)
c.729C>G (p.Ile243Met)
14g.53950671G>TCA486658354BMP4c.588C>A (p.Ile196=)
c.446C>A (n.446C>A)
c.399C>A (p.Ile133=)
c.729C>A (p.Ile243=)
14g.53950672A>CCA389784372BMP4c.587T>G (p.Ile196Ser)
c.445T>G (n.445T>G)
c.398T>G (p.Ile133Ser)
c.728T>G (p.Ile243Ser)
14g.53950672A>GCA389784373BMP4c.587T>C (p.Ile196Thr)
c.445T>C (n.445T>C)
c.398T>C (p.Ile133Thr)
c.728T>C (p.Ile243Thr)
14g.53950672A>TCA389784374BMP4c.587T>A (p.Ile196Asn)
c.445T>A (n.445T>A)
c.398T>A (p.Ile133Asn)
c.728T>A (p.Ile243Asn)
14g.53950673T>ACA389784375BMP4c.586A>T (p.Ile196Phe)
c.444A>T (n.444A>T)
c.397A>T (p.Ile133Phe)
c.727A>T (p.Ile243Phe)
 gnomAD v4
14g.53950673T>CCA389784376BMP4c.586A>G (p.Ile196Val)
c.444A>G (n.444A>G)
c.397A>G (p.Ile133Val)
c.727A>G (p.Ile243Val)
14g.53950673T>GCA389784377BMP4c.586A>C (p.Ile196Leu)
c.444A>C (n.444A>C)
c.397A>C (p.Ile133Leu)
c.727A>C (p.Ile243Leu)
14g.53950674G>ACA486658358BMP4c.585C>T (p.Leu195=)
c.443C>T (n.443C>T)
c.396C>T (p.Leu132=)
c.726C>T (p.Leu242=)
 COSMIC
14g.53950674G>CCA486658359BMP4c.585C>G (p.Leu195=)
c.443C>G (n.443C>G)
c.396C>G (p.Leu132=)
c.726C>G (p.Leu242=)
14g.53950674G>TCA486658361BMP4c.585C>A (p.Leu195=)
c.443C>A (n.443C>A)
c.396C>A (p.Leu132=)
c.726C>A (p.Leu242=)
14g.53950675A>CCA389784378BMP4c.584T>G (p.Leu195Arg)
c.442T>G (n.442T>G)
c.395T>G (p.Leu132Arg)
c.725T>G (p.Leu242Arg)
14g.53950675A>GCA389784380BMP4c.584T>C (p.Leu195Pro)
c.442T>C (n.442T>C)
c.395T>C (p.Leu132Pro)
c.725T>C (p.Leu242Pro)
14g.53950675A>TCA389784379BMP4c.584T>A (p.Leu195His)
c.442T>A (n.442T>A)
c.395T>A (p.Leu132His)
c.725T>A (p.Leu242His)
14g.53950676G>ACA389784381BMP4c.583C>T (p.Leu195Phe)
c.441C>T (n.441C>T)
c.394C>T (p.Leu132Phe)
c.724C>T (p.Leu242Phe)
14g.53950676G>CCA389784382BMP4c.583C>G (p.Leu195Val)
c.441C>G (n.441C>G)
c.394C>G (p.Leu132Val)
c.724C>G (p.Leu242Val)
14g.53950676G>TCA389784383BMP4c.583C>A (p.Leu195Ile)
c.441C>A (n.441C>A)
c.394C>A (p.Leu132Ile)
c.724C>A (p.Leu242Ile)
 gnomAD v4
14g.53950677G>ACA261472677BMP4c.582C>T (p.His194=)
c.440C>T (n.440C>T)
c.393C>T (p.His131=)
c.723C>T (p.His241=)
 ClinVar dbSNP gnomAD v4
14g.53950677G>CCA389784384BMP4c.582C>G (p.His194Gln)
c.440C>G (n.440C>G)
c.393C>G (p.His131Gln)
c.723C>G (p.His241Gln)
14g.53950677G=CA2137817597BMP4c.582C= (p.His194=)
c.440C= (n.440C=)
c.393C= (p.His131=)
c.723C= (p.His241=)
14g.53950677G>TCA389784385BMP4c.582C>A (p.His194Gln)
c.440C>A (n.440C>A)
c.393C>A (p.His131Gln)
c.723C>A (p.His241Gln)
14g.53950678T>ACA389784388BMP4c.581A>T (p.His194Leu)
c.439A>T (n.439A>T)
c.392A>T (p.His131Leu)
c.722A>T (p.His241Leu)
14g.53950678T>CCA389784387BMP4c.581A>G (p.His194Arg)
c.439A>G (n.439A>G)
c.392A>G (p.His131Arg)
c.722A>G (p.His241Arg)
14g.53950678T>GCA389784386BMP4c.581A>C (p.His194Pro)
c.439A>C (n.439A>C)
c.392A>C (p.His131Pro)
c.722A>C (p.His241Pro)
14g.53950679G>ACA389784389BMP4c.580C>T (p.His194Tyr)
c.438C>T (n.438C>T)
c.391C>T (p.His131Tyr)
c.721C>T (p.His241Tyr)
 dbSNP gnomAD v2 gnomAD v4
14g.53950679G>CCA389784390BMP4c.580C>G (p.His194Asp)
c.438C>G (n.438C>G)
c.391C>G (p.His131Asp)
c.721C>G (p.His241Asp)
14g.53950679G=CA2137817604BMP4c.580C= (p.His194=)
c.438C= (n.438C=)
c.391C= (p.His131=)
c.721C= (p.His241=)
14g.53950679G>TCA389784391BMP4c.580C>A (p.His194Asn)
c.438C>A (n.438C>A)
c.391C>A (p.His131Asn)
c.721C>A (p.His241Asn)
14g.53950680C>ACA486658371BMP4c.579G>T (p.Gly193=)
c.437G>T (n.437G>T)
c.390G>T (p.Gly130=)
c.720G>T (p.Gly240=)
 gnomAD v4
14g.53950680C=CA2137817608BMP4c.579G= (p.Gly193=)
c.437G= (n.437G=)
c.390G= (p.Gly130=)
c.720G= (p.Gly240=)
14g.53950680C>GCA486658373BMP4c.579G>C (p.Gly193=)
c.437G>C (n.437G>C)
c.390G>C (p.Gly130=)
c.720G>C (p.Gly240=)
14g.53950680C>TCA486658375BMP4c.579G>A (p.Gly193=)
c.437G>A (n.437G>A)
c.390G>A (p.Gly130=)
c.720G>A (p.Gly240=)
 dbSNP
14g.53950681C>ACA7191715BMP4c.578G>T (p.Gly193Val)
c.436G>T (n.436G>T)
c.389G>T (p.Gly130Val)
c.719G>T (p.Gly240Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.53950681C=CA2137817610BMP4c.578G= (p.Gly193=)
c.436G= (n.436G=)
c.389G= (p.Gly130=)
c.719G= (p.Gly240=)
14g.53950681C>GCA389784392BMP4c.578G>C (p.Gly193Ala)
c.436G>C (n.436G>C)
c.389G>C (p.Gly130Ala)
c.719G>C (p.Gly240Ala)
14g.53950681C>TCA389784393BMP4c.578G>A (p.Gly193Glu)
c.436G>A (n.436G>A)
c.389G>A (p.Gly130Glu)
c.719G>A (p.Gly240Glu)
 dbSNP gnomAD v2 gnomAD v4
14g.53950682C>ACA389784396BMP4c.577G>T (p.Gly193Trp)
c.435G>T (n.435G>T)
c.388G>T (p.Gly130Trp)
c.718G>T (p.Gly240Trp)
14g.53950682C>GCA389784394BMP4c.577G>C (p.Gly193Arg)
c.435G>C (n.435G>C)
c.388G>C (p.Gly130Arg)
c.718G>C (p.Gly240Arg)
14g.53950682C>TCA389784395BMP4c.577G>A (p.Gly193Arg)
c.435G>A (n.435G>A)
c.388G>A (p.Gly130Arg)
c.718G>A (p.Gly240Arg)
14g.53950683A>CCA486658378BMP4c.576T>G (p.Pro192=)
c.434T>G (n.434T>G)
c.387T>G (p.Pro129=)
c.717T>G (p.Pro239=)
14g.53950683A>GCA486658379BMP4c.576T>C (p.Pro192=)
c.434T>C (n.434T>C)
c.387T>C (p.Pro129=)
c.717T>C (p.Pro239=)
14g.53950683A>TCA486658381BMP4c.576T>A (p.Pro192=)
c.434T>A (n.434T>A)
c.387T>A (p.Pro129=)
c.717T>A (p.Pro239=)
14g.53950684G>ACA389784397BMP4c.575C>T (p.Pro192Leu)
c.433C>T (n.433C>T)
c.386C>T (p.Pro129Leu)
c.716C>T (p.Pro239Leu)
14g.53950684G>CCA389784398BMP4c.575C>G (p.Pro192Arg)
c.433C>G (n.433C>G)
c.386C>G (p.Pro129Arg)
c.716C>G (p.Pro239Arg)
14g.53950684G>TCA389784399BMP4c.575C>A (p.Pro192His)
c.433C>A (n.433C>A)
c.386C>A (p.Pro129His)
c.716C>A (p.Pro239His)
14g.53950685G>ACA389784400BMP4c.574C>T (p.Pro192Ser)
c.432C>T (n.432C>T)
c.385C>T (p.Pro129Ser)
c.715C>T (p.Pro239Ser)
 dbSNP gnomAD v3 gnomAD v4
14g.53950685G>CCA389784401BMP4c.574C>G (p.Pro192Ala)
c.432C>G (n.432C>G)
c.385C>G (p.Pro129Ala)
c.715C>G (p.Pro239Ala)
14g.53950685G=CA2137817614BMP4c.574C= (p.Pro192=)
c.432C= (n.432C=)
c.385C= (p.Pro129=)
c.715C= (p.Pro239=)
14g.53950685G>TCA389784402BMP4c.574C>A (p.Pro192Thr)
c.432C>A (n.432C>A)
c.385C>A (p.Pro129Thr)
c.715C>A (p.Pro239Thr)
14g.53950686C>ACA486658386BMP4c.573G>T (p.Val191=)
c.431G>T (n.431G>T)
c.384G>T (p.Val128=)
c.714G>T (p.Val238=)
14g.53950686C=CA2137817618BMP4c.573G= (p.Val191=)
c.431G= (n.431G=)
c.384G= (p.Val128=)
c.714G= (p.Val238=)
14g.53950686C>GCA486658387BMP4c.573G>C (p.Val191=)
c.431G>C (n.431G>C)
c.384G>C (p.Val128=)
c.714G>C (p.Val238=)
14g.53950686C>TCA486658388BMP4c.573G>A (p.Val191=)
c.431G>A (n.431G>A)
c.384G>A (p.Val128=)
c.714G>A (p.Val238=)
 dbSNP
14g.53950687A>CCA389784403BMP4c.572T>G (p.Val191Gly)
c.430T>G (n.430T>G)
c.383T>G (p.Val128Gly)
c.713T>G (p.Val238Gly)
14g.53950687A>GCA389784404BMP4c.572T>C (p.Val191Ala)
c.430T>C (n.430T>C)
c.383T>C (p.Val128Ala)
c.713T>C (p.Val238Ala)
14g.53950687A>TCA389784405BMP4c.572T>A (p.Val191Glu)
c.430T>A (n.430T>A)
c.383T>A (p.Val128Glu)
c.713T>A (p.Val238Glu)
14g.53950688C>ACA389784406BMP4c.571G>T (p.Val191Leu)
c.429G>T (n.429G>T)
c.382G>T (p.Val128Leu)
c.712G>T (p.Val238Leu)
 dbSNP
14g.53950688C=CA2137817621BMP4c.571G= (p.Val191=)
c.429G= (n.429G=)
c.382G= (p.Val128=)
c.712G= (p.Val238=)
14g.53950688C>GCA389784407BMP4c.571G>C (p.Val191Leu)
c.429G>C (n.429G>C)
c.382G>C (p.Val128Leu)
c.712G>C (p.Val238Leu)
14g.53950688C>TCA389784408BMP4c.571G>A (p.Val191Met)
c.429G>A (n.429G>A)
c.382G>A (p.Val128Met)
c.712G>A (p.Val238Met)
 dbSNP gnomAD v3 gnomAD v4
14g.53950689C>ACA486658392BMP4c.570G>T (p.Val190=)
c.428G>T (n.428G>T)
c.381G>T (p.Val127=)
c.711G>T (p.Val237=)
14g.53950689C=CA2137817626BMP4c.570G= (p.Val190=)
c.428G= (n.428G=)
c.381G= (p.Val127=)
c.711G= (p.Val237=)
14g.53950689C>GCA486658395BMP4c.570G>C (p.Val190=)
c.428G>C (n.428G>C)
c.381G>C (p.Val127=)
c.711G>C (p.Val237=)
14g.53950689C>TCA486658398BMP4c.570G>A (p.Val190=)
c.428G>A (n.428G>A)
c.381G>A (p.Val127=)
c.711G>A (p.Val237=)
 dbSNP gnomAD v2 gnomAD v4
14g.53950690A>CCA389784409BMP4c.569T>G (p.Val190Gly)
c.427T>G (n.427T>G)
c.380T>G (p.Val127Gly)
c.710T>G (p.Val237Gly)
14g.53950690A>GCA389784411BMP4c.569T>C (p.Val190Ala)
c.427T>C (n.427T>C)
c.380T>C (p.Val127Ala)
c.710T>C (p.Val237Ala)
14g.53950690A>TCA389784410BMP4c.569T>A (p.Val190Glu)
c.427T>A (n.427T>A)
c.380T>A (p.Val127Glu)
c.710T>A (p.Val237Glu)
 gnomAD v4
14g.53950691C>ACA389784412BMP4c.568G>T (p.Val190Leu)
c.426G>T (n.426G>T)
c.379G>T (p.Val127Leu)
c.709G>T (p.Val237Leu)
14g.53950691C=CA2137817630BMP4c.568G= (p.Val190=)
c.426G= (n.426G=)
c.379G= (p.Val127=)
c.709G= (p.Val237=)
14g.53950691C>GCA389784413BMP4c.568G>C (p.Val190Leu)
c.426G>C (n.426G>C)
c.379G>C (p.Val127Leu)
c.709G>C (p.Val237Leu)
 dbSNP
14g.53950691C>TCA7191716BMP4c.568G>A (p.Val190Met)
c.426G>A (n.426G>A)
c.379G>A (p.Val127Met)
c.709G>A (p.Val237Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.53950692T>ACA389784414BMP4c.567A>T (p.Glu189Asp)
c.425A>T (n.425A>T)
c.378A>T (p.Glu126Asp)
c.708A>T (p.Glu236Asp)
14g.53950692T>CCA486658402BMP4c.567A>G (p.Glu189=)
c.425A>G (n.425A>G)
c.378A>G (p.Glu126=)
c.708A>G (p.Glu236=)
14g.53950692T>GCA389784415BMP4c.567A>C (p.Glu189Asp)
c.425A>C (n.425A>C)
c.378A>C (p.Glu126Asp)
c.708A>C (p.Glu236Asp)
14g.53950693T>ACA7191717BMP4c.566A>T (p.Glu189Val)
c.424A>T (n.424A>T)
c.377A>T (p.Glu126Val)
c.707A>T (p.Glu236Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53950693T>CCA389784416BMP4c.566A>G (p.Glu189Gly)
c.424A>G (n.424A>G)
c.377A>G (p.Glu126Gly)
c.707A>G (p.Glu236Gly)
14g.53950693T>GCA389784417BMP4c.566A>C (p.Glu189Ala)
c.424A>C (n.424A>C)
c.377A>C (p.Glu126Ala)
c.707A>C (p.Glu236Ala)
14g.53950693T=CA2137817637BMP4c.566A= (p.Glu189=)
c.424A= (n.424A=)
c.377A= (p.Glu126=)
c.707A= (p.Glu236=)
14g.53950694C>ACA389784418BMP4c.565G>T (p.Glu189Ter)
c.423G>T (n.423G>T)
c.376G>T (p.Glu126Ter)
c.706G>T (p.Glu236Ter)
14g.53950694C>GCA389784419BMP4c.565G>C (p.Glu189Gln)
c.423G>C (n.423G>C)
c.376G>C (p.Glu126Gln)
c.706G>C (p.Glu236Gln)
14g.53950694C>TCA389784420BMP4c.565G>A (p.Glu189Lys)
c.423G>A (n.423G>A)
c.376G>A (p.Glu126Lys)
c.706G>A (p.Glu236Lys)
 gnomAD v4
14g.53950695T>ACA486658408BMP4c.564A>T (p.Ala188=)
c.422A>T (n.422A>T)
c.375A>T (p.Ala125=)
c.705A>T (p.Ala235=)
14g.53950695T>CCA486658405BMP4c.564A>G (p.Ala188=)
c.422A>G (n.422A>G)
c.375A>G (p.Ala125=)
c.705A>G (p.Ala235=)
14g.53950695T>GCA486658406BMP4c.564A>C (p.Ala188=)
c.422A>C (n.422A>C)
c.375A>C (p.Ala125=)
c.705A>C (p.Ala235=)
14g.53950696G>ACA7191718BMP4c.563C>T (p.Ala188Val)
c.421C>T (n.421C>T)
c.374C>T (p.Ala125Val)
c.704C>T (p.Ala235Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53950696G>CCA389784422BMP4c.563C>G (p.Ala188Gly)
c.421C>G (n.421C>G)
c.374C>G (p.Ala125Gly)
c.704C>G (p.Ala235Gly)
 dbSNP gnomAD v2 gnomAD v4
14g.53950696G=CA2137817640BMP4c.563C= (p.Ala188=)
c.421C= (n.421C=)
c.374C= (p.Ala125=)
c.704C= (p.Ala235=)
14g.53950696G>TCA389784421BMP4c.563C>A (p.Ala188Glu)
c.421C>A (n.421C>A)
c.374C>A (p.Ala125Glu)
c.704C>A (p.Ala235Glu)
14g.53950697C>ACA389784423BMP4c.562G>T (p.Ala188Ser)
c.420G>T (n.420G>T)
c.373G>T (p.Ala125Ser)
c.703G>T (p.Ala235Ser)
14g.53950697C>GCA389784424BMP4c.562G>C (p.Ala188Pro)
c.420G>C (n.420G>C)
c.373G>C (p.Ala125Pro)
c.703G>C (p.Ala235Pro)
14g.53950697C>TCA389784425BMP4c.562G>A (p.Ala188Thr)
c.420G>A (n.420G>A)
c.373G>A (p.Ala125Thr)
c.703G>A (p.Ala235Thr)
14g.53950698T>ACA486658412BMP4c.561A>T (p.Pro187=)
c.419A>T (n.419A>T)
c.372A>T (p.Pro124=)
c.702A>T (p.Pro234=)
14g.53950698T>CCA486658414BMP4c.561A>G (p.Pro187=)
c.419A>G (n.419A>G)
c.372A>G (p.Pro124=)
c.702A>G (p.Pro234=)
14g.53950698T>GCA486658413BMP4c.561A>C (p.Pro187=)
c.419A>C (n.419A>C)
c.372A>C (p.Pro124=)
c.702A>C (p.Pro234=)
14g.53950700_53950722delCA2740097932BMP4c.539_561del (p.Ile180SerfsTer29)
c.397_419del (n.397_419del)
c.350_372del (p.Ile117SerfsTer29)
c.680_702del (p.Ile227SerfsTer29)
14g.53950699G>ACA7191719BMP4c.560C>T (p.Pro187Leu)
c.418C>T (n.418C>T)
c.371C>T (p.Pro124Leu)
c.701C>T (p.Pro234Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.53950699G>CCA389784426BMP4c.560C>G (p.Pro187Arg)
c.418C>G (n.418C>G)
c.371C>G (p.Pro124Arg)
c.701C>G (p.Pro234Arg)
14g.53950699G=CA2137817646BMP4c.560C= (p.Pro187=)
c.418C= (n.418C=)
c.371C= (p.Pro124=)
c.701C= (p.Pro234=)
14g.53950699G>TCA389784427BMP4c.560C>A (p.Pro187Gln)
c.418C>A (n.418C>A)
c.371C>A (p.Pro124Gln)
c.701C>A (p.Pro234Gln)
14g.53950700G>ACA389784428BMP4c.559C>T (p.Pro187Ser)
c.417C>T (n.417C>T)
c.370C>T (p.Pro124Ser)
c.700C>T (p.Pro234Ser)
14g.53950700G>CCA389784429BMP4c.559C>G (p.Pro187Ala)
c.417C>G (n.417C>G)
c.370C>G (p.Pro124Ala)
c.700C>G (p.Pro234Ala)
14g.53950700G>TCA389784430BMP4c.559C>A (p.Pro187Thr)
c.417C>A (n.417C>A)
c.370C>A (p.Pro124Thr)
c.700C>A (p.Pro234Thr)
14g.53950701G>ACA486658416BMP4c.558C>T (p.Pro186=)
c.416C>T (n.416C>T)
c.369C>T (p.Pro123=)
c.699C>T (p.Pro233=)
14g.53950701G>CCA486658417BMP4c.558C>G (p.Pro186=)
c.416C>G (n.416C>G)
c.369C>G (p.Pro123=)
c.699C>G (p.Pro233=)
14g.53950701G>TCA486658418BMP4c.558C>A (p.Pro186=)
c.416C>A (n.416C>A)
c.369C>A (p.Pro123=)
c.699C>A (p.Pro233=)
14g.53950702G>ACA389784431BMP4c.557C>T (p.Pro186Leu)
c.415C>T (n.415C>T)
c.368C>T (p.Pro123Leu)
c.698C>T (p.Pro233Leu)
14g.53950702G>CCA389784432BMP4c.557C>G (p.Pro186Arg)
c.415C>G (n.415C>G)
c.368C>G (p.Pro123Arg)
c.698C>G (p.Pro233Arg)
14g.53950702G>TCA389784433BMP4c.557C>A (p.Pro186His)
c.415C>A (n.415C>A)
c.368C>A (p.Pro123His)
c.698C>A (p.Pro233His)
14g.53950703G>ACA389784436BMP4c.556C>T (p.Pro186Ser)
c.414C>T (n.414C>T)
c.367C>T (p.Pro123Ser)
c.697C>T (p.Pro233Ser)
 dbSNP gnomAD v2 gnomAD v4
14g.53950703G>CCA389784435BMP4c.556C>G (p.Pro186Ala)
c.414C>G (n.414C>G)
c.367C>G (p.Pro123Ala)
c.697C>G (p.Pro233Ala)
14g.53950703G=CA2137817652BMP4c.556C= (p.Pro186=)
c.414C= (n.414C=)
c.367C= (p.Pro123=)
c.697C= (p.Pro233=)
14g.53950703G>TCA389784434BMP4c.556C>A (p.Pro186Thr)
c.414C>A (n.414C>A)
c.367C>A (p.Pro123Thr)
c.697C>A (p.Pro233Thr)
 dbSNP gnomAD v3 gnomAD v4
14g.53950704C>ACA389784437BMP4c.555G>T (p.Lys185Asn)
c.413G>T (n.413G>T)
c.366G>T (p.Lys122Asn)
c.696G>T (p.Lys232Asn)
14g.53950704C>GCA389784438BMP4c.555G>C (p.Lys185Asn)
c.413G>C (n.413G>C)
c.366G>C (p.Lys122Asn)
c.696G>C (p.Lys232Asn)
14g.53950704C>TCA486658422BMP4c.555G>A (p.Lys185=)
c.413G>A (n.413G>A)
c.366G>A (p.Lys122=)
c.696G>A (p.Lys232=)
14g.53950705T>ACA389784439BMP4c.554A>T (p.Lys185Met)
c.412A>T (n.412A>T)
c.365A>T (p.Lys122Met)
c.695A>T (p.Lys232Met)
14g.53950705T>CCA389784441BMP4c.554A>G (p.Lys185Arg)
c.412A>G (n.412A>G)
c.365A>G (p.Lys122Arg)
c.695A>G (p.Lys232Arg)
14g.53950705T>GCA389784440BMP4c.554A>C (p.Lys185Thr)
c.412A>C (n.412A>C)
c.365A>C (p.Lys122Thr)
c.695A>C (p.Lys232Thr)
14g.53950706T>ACA389784442BMP4c.553A>T (p.Lys185Ter)
c.411A>T (n.411A>T)
c.364A>T (p.Lys122Ter)
c.694A>T (p.Lys232Ter)
14g.53950706T>CCA389784443BMP4c.553A>G (p.Lys185Glu)
c.411A>G (n.411A>G)
c.364A>G (p.Lys122Glu)
c.694A>G (p.Lys232Glu)
14g.53950706T>GCA389784444BMP4c.553A>C (p.Lys185Gln)
c.411A>C (n.411A>C)
c.364A>C (p.Lys122Gln)
c.694A>C (p.Lys232Gln)
14g.53950707C>ACA389784445BMP4c.552G>T (p.Met184Ile)
c.410G>T (n.410G>T)
c.363G>T (p.Met121Ile)
c.693G>T (p.Met231Ile)
14g.53950707C=CA2137817656BMP4c.552G= (p.Met184=)
c.410G= (n.410G=)
c.363G= (p.Met121=)
c.693G= (p.Met231=)
14g.53950707C>GCA389784446BMP4c.552G>C (p.Met184Ile)
c.410G>C (n.410G>C)
c.363G>C (p.Met121Ile)
c.693G>C (p.Met231Ile)
14g.53950707C>TCA389784447BMP4c.552G>A (p.Met184Ile)
c.410G>A (n.410G>A)
c.363G>A (p.Met121Ile)
c.693G>A (p.Met231Ile)
14g.53950708A=CA2137817660BMP4c.551T= (p.Met184=)
c.409T= (n.409T=)
c.362T= (p.Met121=)
c.692T= (p.Met231=)
14g.53950708A>CCA389784450BMP4c.551T>G (p.Met184Arg)
c.409T>G (n.409T>G)
c.362T>G (p.Met121Arg)
c.692T>G (p.Met231Arg)
14g.53950708A>GCA389784449BMP4c.551T>C (p.Met184Thr)
c.409T>C (n.409T>C)
c.362T>C (p.Met121Thr)
c.692T>C (p.Met231Thr)
 dbSNP gnomAD v2 gnomAD v4
14g.53950708A>TCA389784448BMP4c.551T>A (p.Met184Lys)
c.409T>A (n.409T>A)
c.362T>A (p.Met121Lys)
c.692T>A (p.Met231Lys)
14g.53950711_53950728dupCA614278085BMP4c.534_551dup (p.Val183_Met184insIleAsnIleTyrGluVal)
c.392_409dup (n.392_409dup)
c.345_362dup (p.Val120_Met121insIleAsnIleTyrGluVal)
c.675_692dup (p.Val230_Met231insIleAsnIleTyrGluVal)
 dbSNP gnomAD v2 gnomAD v4
14g.53950709T>ACA389784451BMP4c.550A>T (p.Met184Leu)
c.408A>T (n.408A>T)
c.361A>T (p.Met121Leu)
c.691A>T (p.Met231Leu)
14g.53950709T>CCA7191720BMP4c.550A>G (p.Met184Val)
c.408A>G (n.408A>G)
c.361A>G (p.Met121Val)
c.691A>G (p.Met231Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.53950709T>GCA389784452BMP4c.550A>C (p.Met184Leu)
c.408A>C (n.408A>C)
c.361A>C (p.Met121Leu)
c.691A>C (p.Met231Leu)
14g.53950709T=CA2137817663BMP4c.550A= (p.Met184=)
c.408A= (n.408A=)
c.361A= (p.Met121=)
c.691A= (p.Met231=)
14g.53950710A>CCA486658429BMP4c.549T>G (p.Val183=)
c.407T>G (n.407T>G)
c.360T>G (p.Val120=)
c.690T>G (p.Val230=)
14g.53950710A>GCA486658430BMP4c.549T>C (p.Val183=)
c.407T>C (n.407T>C)
c.360T>C (p.Val120=)
c.690T>C (p.Val230=)
14g.53950710A>TCA486658431BMP4c.549T>A (p.Val183=)
c.407T>A (n.407T>A)
c.360T>A (p.Val120=)
c.690T>A (p.Val230=)
14g.53950711A>CCA389784453BMP4c.548T>G (p.Val183Gly)
c.406T>G (n.406T>G)
c.359T>G (p.Val120Gly)
c.689T>G (p.Val230Gly)
14g.53950711A>GCA389784454BMP4c.548T>C (p.Val183Ala)
c.406T>C (n.406T>C)
c.359T>C (p.Val120Ala)
c.689T>C (p.Val230Ala)
14g.53950711A>TCA389784455BMP4c.548T>A (p.Val183Asp)
c.406T>A (n.406T>A)
c.359T>A (p.Val120Asp)
c.689T>A (p.Val230Asp)
14g.53950712C>ACA389784456BMP4c.547G>T (p.Val183Phe)
c.405G>T (n.405G>T)
c.358G>T (p.Val120Phe)
c.688G>T (p.Val230Phe)
14g.53950712C=CA2137817666BMP4c.547G= (p.Val183=)
c.405G= (n.405G=)
c.358G= (p.Val120=)
c.688G= (p.Val230=)
14g.53950712C>GCA389784457BMP4c.547G>C (p.Val183Leu)
c.405G>C (n.405G>C)
c.358G>C (p.Val120Leu)
c.688G>C (p.Val230Leu)
14g.53950712C>TCA261472678BMP4c.547G>A (p.Val183Ile)
c.405G>A (n.405G>A)
c.358G>A (p.Val120Ile)
c.688G>A (p.Val230Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched