Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.53950606C>A | CA389784236 | BMP4 | c.653G>T (p.Ser218Ile) c.464G>T (p.Ser155Ile) c.794G>T (p.Ser265Ile) | |
14 | g.53950606C>G | CA389784238 | BMP4 | c.653G>C (p.Ser218Thr) c.464G>C (p.Ser155Thr) c.794G>C (p.Ser265Thr) | |
14 | g.53950606C>T | CA389784237 | BMP4 | c.653G>A (p.Ser218Asn) c.464G>A (p.Ser155Asn) c.794G>A (p.Ser265Asn) | |
14 | g.53950607T>A | CA389784239 | BMP4 | c.652A>T (p.Ser218Cys) c.463A>T (p.Ser155Cys) c.793A>T (p.Ser265Cys) | |
14 | g.53950607T>C | CA389784240 | BMP4 | c.652A>G (p.Ser218Gly) c.463A>G (p.Ser155Gly) c.793A>G (p.Ser265Gly) | |
14 | g.53950607T>G | CA389784241 | BMP4 | c.652A>C (p.Ser218Arg) c.463A>C (p.Ser155Arg) c.793A>C (p.Ser265Arg) | |
14 | g.53950608C>A | CA486658852 | BMP4 | c.651G>T (p.Val217=) c.462G>T (p.Val154=) c.792G>T (p.Val264=) | |
14 | g.53950608C>G | CA486658854 | BMP4 | c.651G>C (p.Val217=) c.462G>C (p.Val154=) c.792G>C (p.Val264=) | |
14 | g.53950608C>T | CA486658856 | BMP4 | c.651G>A (p.Val217=) c.462G>A (p.Val154=) c.792G>A (p.Val264=) | |
14 | g.53950609A>C | CA389784242 | BMP4 | c.650T>G (p.Val217Gly) c.461T>G (p.Val154Gly) c.791T>G (p.Val264Gly) | |
14 | g.53950609A>G | CA389784243 | BMP4 | c.650T>C (p.Val217Ala) c.461T>C (p.Val154Ala) c.791T>C (p.Val264Ala) | |
14 | g.53950609A>T | CA389784244 | BMP4 | c.650T>A (p.Val217Glu) c.461T>A (p.Val154Glu) c.791T>A (p.Val264Glu) | |
14 | g.53950610C>A | CA389784245 | BMP4 | c.649G>T (p.Val217Leu) c.460G>T (p.Val154Leu) c.790G>T (p.Val264Leu) | |
14 | g.53950610C>G | CA389784246 | BMP4 | c.649G>C (p.Val217Leu) c.460G>C (p.Val154Leu) c.790G>C (p.Val264Leu) | |
14 | g.53950610C>T | CA389784247 | BMP4 | c.649G>A (p.Val217Met) c.460G>A (p.Val154Met) c.790G>A (p.Val264Met) | gnomAD v4 |
14 | g.53950611A>C | CA389784248 | BMP4 | c.648T>G (p.Asp216Glu) c.459T>G (p.Asp153Glu) c.789T>G (p.Asp263Glu) | |
14 | g.53950611A>G | CA486658859 | BMP4 | c.648T>C (p.Asp216=) c.459T>C (p.Asp153=) c.789T>C (p.Asp263=) | |
14 | g.53950611A>T | CA389784249 | BMP4 | c.648T>A (p.Asp216Glu) c.459T>A (p.Asp153Glu) c.789T>A (p.Asp263Glu) | |
14 | g.53950612T>A | CA389784252 | BMP4 | c.647A>T (p.Asp216Val) c.458A>T (p.Asp153Val) c.788A>T (p.Asp263Val) | |
14 | g.53950612T>C | CA389784250 | BMP4 | c.647A>G (p.Asp216Gly) c.458A>G (p.Asp153Gly) c.788A>G (p.Asp263Gly) | |
14 | g.53950612T>G | CA389784251 | BMP4 | c.647A>C (p.Asp216Ala) c.458A>C (p.Asp153Ala) c.788A>C (p.Asp263Ala) | |
14 | g.53950613C>A | CA389784253 | BMP4 | c.646G>T (p.Asp216Tyr) c.457G>T (p.Asp153Tyr) c.787G>T (p.Asp263Tyr) | |
14 | g.53950613C>G | CA389784254 | BMP4 | c.646G>C (p.Asp216His) c.457G>C (p.Asp153His) c.787G>C (p.Asp263His) | |
14 | g.53950613C>T | CA389784255 | BMP4 | c.646G>A (p.Asp216Asn) c.457G>A (p.Asp153Asn) c.787G>A (p.Asp263Asn) | |
14 | g.53950613_53950614delinsCA | CA2137817497 | BMP4 | c.645_646delinsTG (p.Phe215=) c.456_457delinsTG (p.Phe152=) c.786_787delinsTG (p.Phe262=) | |
14 | g.53950614A>C | CA389784256 | BMP4 | c.645T>G (p.Phe215Leu) c.456T>G (p.Phe152Leu) c.786T>G (p.Phe262Leu) | |
14 | g.53950614A>G | CA486658862 | BMP4 | c.645T>C (p.Phe215=) c.456T>C (p.Phe152=) c.786T>C (p.Phe262=) | |
14 | g.53950614A>T | CA389784257 | BMP4 | c.645T>A (p.Phe215Leu) c.456T>A (p.Phe152Leu) c.786T>A (p.Phe262Leu) | |
14 | g.53950617del | CA2137817500 | BMP4 | c.645del (p.Phe215LeufsTer3) c.456del (p.Phe152LeufsTer3) c.786del (p.Phe262LeufsTer3) | dbSNP |
14 | g.53950616_53950617del | CA2575530818 | BMP4 | c.644_645del (p.Phe215Ter) c.455_456del (p.Phe152Ter) c.785_786del (p.Phe262Ter) | |
14 | g.53950615A>C | CA389784258 | BMP4 | c.644T>G (p.Phe215Cys) c.455T>G (p.Phe152Cys) c.785T>G (p.Phe262Cys) | |
14 | g.53950615A>G | CA389784259 | BMP4 | c.644T>C (p.Phe215Ser) c.455T>C (p.Phe152Ser) c.785T>C (p.Phe262Ser) | |
14 | g.53950615A>T | CA389784260 | BMP4 | c.644T>A (p.Phe215Tyr) c.455T>A (p.Phe152Tyr) c.785T>A (p.Phe262Tyr) | |
14 | g.53950616A= | CA2137817502 | BMP4 | c.643T= (p.Phe215=) c.454T= (p.Phe152=) c.784T= (p.Phe262=) | |
14 | g.53950616A>C | CA389784261 | BMP4 | c.643T>G (p.Phe215Val) c.454T>G (p.Phe152Val) c.784T>G (p.Phe262Val) | |
14 | g.53950616A>G | CA389784262 | BMP4 | c.643T>C (p.Phe215Leu) c.454T>C (p.Phe152Leu) c.784T>C (p.Phe262Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53950616A>T | CA389784263 | BMP4 | c.643T>A (p.Phe215Ile) c.454T>A (p.Phe152Ile) c.784T>A (p.Phe262Ile) | |
14 | g.53950617A>C | CA486658865 | BMP4 | c.642T>G (p.Thr214=) c.453T>G (p.Thr151=) c.783T>G (p.Thr261=) | |
14 | g.53950617A>G | CA486658867 | BMP4 | c.642T>C (p.Thr214=) c.453T>C (p.Thr151=) c.783T>C (p.Thr261=) | |
14 | g.53950617A>T | CA486658869 | BMP4 | c.642T>A (p.Thr214=) c.453T>A (p.Thr151=) c.783T>A (p.Thr261=) | |
14 | g.53950618G>A | CA389784265 | BMP4 | c.641C>T (p.Thr214Ile) c.452C>T (p.Thr151Ile) c.782C>T (p.Thr261Ile) | |
14 | g.53950618G>C | CA389784266 | BMP4 | c.641C>G (p.Thr214Ser) c.452C>G (p.Thr151Ser) c.782C>G (p.Thr261Ser) | |
14 | g.53950618G>T | CA389784264 | BMP4 | c.641C>A (p.Thr214Asn) c.452C>A (p.Thr151Asn) c.782C>A (p.Thr261Asn) | |
14 | g.53950619T>A | CA389784269 | BMP4 | c.640A>T (p.Thr214Ser) c.451A>T (p.Thr151Ser) c.781A>T (p.Thr261Ser) | |
14 | g.53950619T>C | CA389784267 | BMP4 | c.640A>G (p.Thr214Ala) c.451A>G (p.Thr151Ala) c.781A>G (p.Thr261Ala) | |
14 | g.53950619T>G | CA389784268 | BMP4 | c.640A>C (p.Thr214Pro) c.451A>C (p.Thr151Pro) c.781A>C (p.Thr261Pro) | |
14 | g.53950620T>A | CA389784270 | BMP4 | c.639A>T (p.Glu213Asp) c.450A>T (p.Glu150Asp) c.780A>T (p.Glu260Asp) | |
14 | g.53950620T>C | CA486658244 | BMP4 | c.639A>G (p.Glu213=) c.450A>G (p.Glu150=) c.780A>G (p.Glu260=) | |
14 | g.53950620T>G | CA389784271 | BMP4 | c.639A>C (p.Glu213Asp) c.450A>C (p.Glu150Asp) c.780A>C (p.Glu260Asp) | |
14 | g.53950621T>A | CA389784272 | BMP4 | c.638A>T (p.Glu213Val) c.449A>T (p.Glu150Val) c.779A>T (p.Glu260Val) | |
14 | g.53950621T>C | CA389784273 | BMP4 | c.638A>G (p.Glu213Gly) c.449A>G (p.Glu150Gly) c.779A>G (p.Glu260Gly) | |
14 | g.53950621T>G | CA389784274 | BMP4 | c.638A>C (p.Glu213Ala) c.449A>C (p.Glu150Ala) c.779A>C (p.Glu260Ala) | |
14 | g.53950622C>A | CA389784275 | BMP4 | c.637G>T (p.Glu213Ter) c.495G>T (n.495G>T) c.448G>T (p.Glu150Ter) c.778G>T (p.Glu260Ter) | |
14 | g.53950622C>G | CA389784276 | BMP4 | c.637G>C (p.Glu213Gln) c.495G>C (n.495G>C) c.448G>C (p.Glu150Gln) c.778G>C (p.Glu260Gln) | |
14 | g.53950622C>T | CA389784277 | BMP4 | c.637G>A (p.Glu213Lys) c.495G>A (n.495G>A) c.448G>A (p.Glu150Lys) c.778G>A (p.Glu260Lys) | |
14 | g.53950623C>A | CA389784278 | BMP4 | c.636G>T (p.Trp212Cys) c.494G>T (n.494G>T) c.447G>T (p.Trp149Cys) c.777G>T (p.Trp259Cys) | |
14 | g.53950623C>G | CA389784279 | BMP4 | c.636G>C (p.Trp212Cys) c.494G>C (n.494G>C) c.447G>C (p.Trp149Cys) c.777G>C (p.Trp259Cys) | |
14 | g.53950623C>T | CA389784280 | BMP4 | c.636G>A (p.Trp212Ter) c.494G>A (n.494G>A) c.447G>A (p.Trp149Ter) c.777G>A (p.Trp259Ter) | |
14 | g.53950624C>A | CA389784283 | BMP4 | c.635G>T (p.Trp212Leu) c.493G>T (n.493G>T) c.446G>T (p.Trp149Leu) c.776G>T (p.Trp259Leu) | |
14 | g.53950624C= | CA2137817507 | BMP4 | c.635G= (p.Trp212=) c.493G= (n.493G=) c.446G= (p.Trp149=) c.776G= (p.Trp259=) | |
14 | g.53950624C>G | CA389784281 | BMP4 | c.635G>C (p.Trp212Ser) c.493G>C (n.493G>C) c.446G>C (p.Trp149Ser) c.776G>C (p.Trp259Ser) | |
14 | g.53950624C>T | CA389784282 | BMP4 | c.635G>A (p.Trp212Ter) c.493G>A (n.493G>A) c.446G>A (p.Trp149Ter) c.776G>A (p.Trp259Ter) | ClinVar dbSNP |
14 | g.53950625A>C | CA389784284 | BMP4 | c.634T>G (p.Trp212Gly) c.492T>G (n.492T>G) c.445T>G (p.Trp149Gly) c.775T>G (p.Trp259Gly) | |
14 | g.53950625A>G | CA389784285 | BMP4 | c.634T>C (p.Trp212Arg) c.492T>C (n.492T>C) c.445T>C (p.Trp149Arg) c.775T>C (p.Trp259Arg) | |
14 | g.53950625A>T | CA389784286 | BMP4 | c.634T>A (p.Trp212Arg) c.492T>A (n.492T>A) c.445T>A (p.Trp149Arg) c.775T>A (p.Trp259Arg) | |
14 | g.53950626C>A | CA486658252 | BMP4 | c.633G>T (p.Arg211=) c.491G>T (n.491G>T) c.444G>T (p.Arg148=) c.774G>T (p.Arg258=) | dbSNP |
14 | g.53950626C= | CA2137817512 | BMP4 | c.633G= (p.Arg211=) c.491G= (n.491G=) c.444G= (p.Arg148=) c.774G= (p.Arg258=) | |
14 | g.53950626C>G | CA486658253 | BMP4 | c.633G>C (p.Arg211=) c.491G>C (n.491G>C) c.444G>C (p.Arg148=) c.774G>C (p.Arg258=) | |
14 | g.53950626C>T | CA486658254 | BMP4 | c.633G>A (p.Arg211=) c.491G>A (n.491G>A) c.444G>A (p.Arg148=) c.774G>A (p.Arg258=) | dbSNP gnomAD v4 |
14 | g.53950627C>A | CA389784287 | BMP4 | c.632G>T (p.Arg211Leu) c.490G>T (n.490G>T) c.443G>T (p.Arg148Leu) c.773G>T (p.Arg258Leu) | |
14 | g.53950627C= | CA2137817515 | BMP4 | c.632G= (p.Arg211=) c.490G= (n.490G=) c.443G= (p.Arg148=) c.773G= (p.Arg258=) | |
14 | g.53950627C>G | CA389784288 | BMP4 | c.632G>C (p.Arg211Pro) c.490G>C (n.490G>C) c.443G>C (p.Arg148Pro) c.773G>C (p.Arg258Pro) | |
14 | g.53950627C>T | CA7191703 | BMP4 | c.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 |
14 | g.53950628G>A | CA7191704 | BMP4 | c.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 |
14 | g.53950628G>C | CA389784289 | BMP4 | c.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 |
14 | g.53950628G= | CA2137817521 | BMP4 | c.631C= (p.Arg211=) c.489C= (n.489C=) c.442C= (p.Arg148=) c.772C= (p.Arg258=) | |
14 | g.53950628G>T | CA486658257 | BMP4 | c.631C>A (p.Arg211=) c.489C>A (n.489C>A) c.442C>A (p.Arg148=) c.772C>A (p.Arg258=) | |
14 | g.53950629T>A | CA486658260 | BMP4 | c.630A>T (p.Thr210=) c.488A>T (n.488A>T) c.441A>T (p.Thr147=) c.771A>T (p.Thr257=) | |
14 | g.53950629T>C | CA486658259 | BMP4 | c.630A>G (p.Thr210=) c.488A>G (n.488A>G) c.441A>G (p.Thr147=) c.771A>G (p.Thr257=) | |
14 | g.53950629T>G | CA486658262 | BMP4 | c.630A>C (p.Thr210=) c.488A>C (n.488A>C) c.441A>C (p.Thr147=) c.771A>C (p.Thr257=) | |
14 | g.53950630G>A | CA389784290 | BMP4 | c.629C>T (p.Thr210Ile) c.487C>T (n.487C>T) c.440C>T (p.Thr147Ile) c.770C>T (p.Thr257Ile) | |
14 | g.53950630G>C | CA389784291 | BMP4 | c.629C>G (p.Thr210Arg) c.487C>G (n.487C>G) c.440C>G (p.Thr147Arg) c.770C>G (p.Thr257Arg) | |
14 | g.53950630G>T | CA389784292 | BMP4 | c.629C>A (p.Thr210Lys) c.487C>A (n.487C>A) c.440C>A (p.Thr147Lys) c.770C>A (p.Thr257Lys) | |
14 | g.53950631T>A | CA389784295 | BMP4 | c.628A>T (p.Thr210Ser) c.486A>T (n.486A>T) c.439A>T (p.Thr147Ser) c.769A>T (p.Thr257Ser) | |
14 | g.53950631T>C | CA389784294 | BMP4 | c.628A>G (p.Thr210Ala) c.486A>G (n.486A>G) c.439A>G (p.Thr147Ala) c.769A>G (p.Thr257Ala) | |
14 | g.53950631T>G | CA389784293 | BMP4 | c.628A>C (p.Thr210Pro) c.486A>C (n.486A>C) c.439A>C (p.Thr147Pro) c.769A>C (p.Thr257Pro) | |
14 | g.53950632C>A | CA486658263 | BMP4 | c.627G>T (p.Val209=) c.485G>T (n.485G>T) c.438G>T (p.Val146=) c.768G>T (p.Val256=) | |
14 | g.53950632C>G | CA486658264 | BMP4 | c.627G>C (p.Val209=) c.485G>C (n.485G>C) c.438G>C (p.Val146=) c.768G>C (p.Val256=) | |
14 | g.53950632C>T | CA486658266 | BMP4 | c.627G>A (p.Val209=) c.485G>A (n.485G>A) c.438G>A (p.Val146=) c.768G>A (p.Val256=) | |
14 | g.53950633A>C | CA389784296 | BMP4 | c.626T>G (p.Val209Gly) c.484T>G (n.484T>G) c.437T>G (p.Val146Gly) c.767T>G (p.Val256Gly) | |
14 | g.53950633A>G | CA389784297 | BMP4 | c.626T>C (p.Val209Ala) c.484T>C (n.484T>C) c.437T>C (p.Val146Ala) c.767T>C (p.Val256Ala) | |
14 | g.53950633A>T | CA389784298 | BMP4 | c.626T>A (p.Val209Glu) c.484T>A (n.484T>A) c.437T>A (p.Val146Glu) c.767T>A (p.Val256Glu) | |
14 | g.53950634C>A | CA389784299 | BMP4 | c.625G>T (p.Val209Leu) c.483G>T (n.483G>T) c.436G>T (p.Val146Leu) c.766G>T (p.Val256Leu) | |
14 | g.53950634C= | CA2137817526 | BMP4 | c.625G= (p.Val209=) c.483G= (n.483G=) c.436G= (p.Val146=) c.766G= (p.Val256=) | |
14 | g.53950634C>G | CA389784300 | BMP4 | c.625G>C (p.Val209Leu) c.483G>C (n.483G>C) c.436G>C (p.Val146Leu) c.766G>C (p.Val256Leu) | |
14 | g.53950634C>T | CA389784301 | BMP4 | c.625G>A (p.Val209Met) c.483G>A (n.483G>A) c.436G>A (p.Val146Met) c.766G>A (p.Val256Met) | dbSNP gnomAD v4 |
14 | g.53950635A= | CA2137817528 | BMP4 | c.624T= (p.Asn208=) c.482T= (n.482T=) c.435T= (p.Asn145=) c.765T= (p.Asn255=) | |
14 | g.53950635A>C | CA389784302 | BMP4 | c.624T>G (p.Asn208Lys) c.482T>G (n.482T>G) c.435T>G (p.Asn145Lys) c.765T>G (p.Asn255Lys) | |
14 | g.53950635A>G | CA7191705 | BMP4 | c.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 |
14 | g.53950635A>T | CA389784303 | BMP4 | c.624T>A (p.Asn208Lys) c.482T>A (n.482T>A) c.435T>A (p.Asn145Lys) c.765T>A (p.Asn255Lys) | |
14 | g.53950636T>A | CA389784304 | BMP4 | c.623A>T (p.Asn208Ile) c.481A>T (n.481A>T) c.434A>T (p.Asn145Ile) c.764A>T (p.Asn255Ile) | |
14 | g.53950636T>C | CA7191706 | BMP4 | c.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 |
14 | g.53950636T>G | CA389784305 | BMP4 | c.623A>C (p.Asn208Thr) c.481A>C (n.481A>C) c.434A>C (p.Asn145Thr) c.764A>C (p.Asn255Thr) | |
14 | g.53950636T= | CA2137817534 | BMP4 | c.623A= (p.Asn208=) c.481A= (n.481A=) c.434A= (p.Asn145=) c.764A= (p.Asn255=) | |
14 | g.53950637T>A | CA389784306 | BMP4 | c.622A>T (p.Asn208Tyr) c.480A>T (n.480A>T) c.433A>T (p.Asn145Tyr) c.763A>T (p.Asn255Tyr) | |
14 | g.53950637T>C | CA389784307 | BMP4 | c.622A>G (p.Asn208Asp) c.480A>G (n.480A>G) c.433A>G (p.Asn145Asp) c.763A>G (p.Asn255Asp) | |
14 | g.53950637T>G | CA7191707 | BMP4 | c.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 |
14 | g.53950637T= | CA2137817536 | BMP4 | c.622A= (p.Asn208=) c.480A= (n.480A=) c.433A= (p.Asn145=) c.763A= (p.Asn255=) | |
14 | g.53950638G>A | CA486658275 | BMP4 | c.621C>T (p.His207=) c.479C>T (n.479C>T) c.432C>T (p.His144=) c.762C>T (p.His254=) | |
14 | g.53950638G>C | CA389784308 | BMP4 | c.621C>G (p.His207Gln) c.479C>G (n.479C>G) c.432C>G (p.His144Gln) c.762C>G (p.His254Gln) | |
14 | g.53950638G= | CA2137817539 | BMP4 | c.621C= (p.His207=) c.479C= (n.479C=) c.432C= (p.His144=) c.762C= (p.His254=) | |
14 | g.53950638G>T | CA7191708 | BMP4 | c.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 |
14 | g.53950639T>A | CA389784309 | BMP4 | c.620A>T (p.His207Leu) c.478A>T (n.478A>T) c.431A>T (p.His144Leu) c.761A>T (p.His254Leu) | |
14 | g.53950639T>C | CA389784310 | BMP4 | c.620A>G (p.His207Arg) c.478A>G (n.478A>G) c.431A>G (p.His144Arg) c.761A>G (p.His254Arg) | |
14 | g.53950639T>G | CA389784311 | BMP4 | c.620A>C (p.His207Pro) c.478A>C (n.478A>C) c.431A>C (p.His144Pro) c.761A>C (p.His254Pro) | |
14 | g.53950640G>A | CA389784314 | BMP4 | c.619C>T (p.His207Tyr) c.477C>T (n.477C>T) c.430C>T (p.His144Tyr) c.760C>T (p.His254Tyr) | dbSNP |
14 | g.53950640G>C | CA389784312 | BMP4 | c.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 |
14 | g.53950640G= | CA2137817543 | BMP4 | c.619C= (p.His207=) c.477C= (n.477C=) c.430C= (p.His144=) c.760C= (p.His254=) | |
14 | g.53950640G>T | CA389784313 | BMP4 | c.619C>A (p.His207Asn) c.477C>A (n.477C>A) c.430C>A (p.His144Asn) c.760C>A (p.His254Asn) | dbSNP gnomAD v2 |
14 | g.53950641G>A | CA486658278 | BMP4 | c.618C>T (p.His206=) c.476C>T (n.476C>T) c.429C>T (p.His143=) c.759C>T (p.His253=) | |
14 | g.53950641G>C | CA389784315 | BMP4 | c.618C>G (p.His206Gln) c.476C>G (n.476C>G) c.429C>G (p.His143Gln) c.759C>G (p.His253Gln) | |
14 | g.53950641G>T | CA389784316 | BMP4 | c.618C>A (p.His206Gln) c.476C>A (n.476C>A) c.429C>A (p.His143Gln) c.759C>A (p.His253Gln) | |
14 | g.53950642T>A | CA389784317 | BMP4 | c.617A>T (p.His206Leu) c.475A>T (n.475A>T) c.428A>T (p.His143Leu) c.758A>T (p.His253Leu) | |
14 | g.53950642T>C | CA389784318 | BMP4 | c.617A>G (p.His206Arg) c.475A>G (n.475A>G) c.428A>G (p.His143Arg) c.758A>G (p.His253Arg) | |
14 | g.53950642T>G | CA389784319 | BMP4 | c.617A>C (p.His206Pro) c.475A>C (n.475A>C) c.428A>C (p.His143Pro) c.758A>C (p.His253Pro) | |
14 | g.53950643G>A | CA389784322 | BMP4 | c.616C>T (p.His206Tyr) c.474C>T (n.474C>T) c.427C>T (p.His143Tyr) c.757C>T (p.His253Tyr) | |
14 | g.53950643G>C | CA389784321 | BMP4 | c.616C>G (p.His206Asp) c.474C>G (n.474C>G) c.427C>G (p.His143Asp) c.757C>G (p.His253Asp) | |
14 | g.53950643G>T | CA389784320 | BMP4 | c.616C>A (p.His206Asn) c.474C>A (n.474C>A) c.427C>A (p.His143Asn) c.757C>A (p.His253Asn) | |
14 | g.53950644G>A | CA486658284 | BMP4 | c.615C>T (p.Val205=) c.473C>T (n.473C>T) c.426C>T (p.Val142=) c.756C>T (p.Val252=) | |
14 | g.53950644G>C | CA486658285 | BMP4 | c.615C>G (p.Val205=) c.473C>G (n.473C>G) c.426C>G (p.Val142=) c.756C>G (p.Val252=) | |
14 | g.53950644G= | CA2137817548 | BMP4 | c.615C= (p.Val205=) c.473C= (n.473C=) c.426C= (p.Val142=) c.756C= (p.Val252=) | |
14 | g.53950644G>T | CA7191709 | BMP4 | c.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 |
14 | g.53950645A= | CA2137817552 | BMP4 | c.614T= (p.Val205=) c.472T= (n.472T=) c.425T= (p.Val142=) c.755T= (p.Val252=) | |
14 | g.53950645A>C | CA389784323 | BMP4 | c.614T>G (p.Val205Gly) c.472T>G (n.472T>G) c.425T>G (p.Val142Gly) c.755T>G (p.Val252Gly) | |
14 | g.53950645A>G | CA389784324 | BMP4 | c.614T>C (p.Val205Ala) c.472T>C (n.472T>C) c.425T>C (p.Val142Ala) c.755T>C (p.Val252Ala) | ClinVar dbSNP |
14 | g.53950645A>T | CA389784325 | BMP4 | c.614T>A (p.Val205Asp) c.472T>A (n.472T>A) c.425T>A (p.Val142Asp) c.755T>A (p.Val252Asp) | |
14 | g.53950646C>A | CA389784326 | BMP4 | c.613G>T (p.Val205Phe) c.471G>T (n.471G>T) c.424G>T (p.Val142Phe) c.754G>T (p.Val252Phe) | |
14 | g.53950646C>G | CA389784327 | BMP4 | c.613G>C (p.Val205Leu) c.471G>C (n.471G>C) c.424G>C (p.Val142Leu) c.754G>C (p.Val252Leu) | |
14 | g.53950646C>T | CA389784328 | BMP4 | c.613G>A (p.Val205Ile) c.471G>A (n.471G>A) c.424G>A (p.Val142Ile) c.754G>A (p.Val252Ile) | |
14 | g.53950647C>A | CA486658290 | BMP4 | c.612G>T (p.Leu204=) c.470G>T (n.470G>T) c.423G>T (p.Leu141=) c.753G>T (p.Leu251=) | |
14 | g.53950647C= | CA2137817558 | BMP4 | c.612G= (p.Leu204=) c.470G= (n.470G=) c.423G= (p.Leu141=) c.753G= (p.Leu251=) | |
14 | g.53950647C>G | CA486658291 | BMP4 | c.612G>C (p.Leu204=) c.470G>C (n.470G>C) c.423G>C (p.Leu141=) c.753G>C (p.Leu251=) | |
14 | g.53950647C>T | CA486658292 | BMP4 | c.612G>A (p.Leu204=) c.470G>A (n.470G>A) c.423G>A (p.Leu141=) c.753G>A (p.Leu251=) | dbSNP gnomAD v4 |
14 | g.53950648A>C | CA389784329 | BMP4 | c.611T>G (p.Leu204Arg) c.469T>G (n.469T>G) c.422T>G (p.Leu141Arg) c.752T>G (p.Leu251Arg) | gnomAD v4 |
14 | g.53950648A>G | CA389784330 | BMP4 | c.611T>C (p.Leu204Pro) c.469T>C (n.469T>C) c.422T>C (p.Leu141Pro) c.752T>C (p.Leu251Pro) | |
14 | g.53950648A>T | CA389784331 | BMP4 | c.611T>A (p.Leu204Gln) c.469T>A (n.469T>A) c.422T>A (p.Leu141Gln) c.752T>A (p.Leu251Gln) | |
14 | g.53950649G>A | CA486658297 | BMP4 | c.610C>T (p.Leu204=) c.468C>T (n.468C>T) c.421C>T (p.Leu141=) c.751C>T (p.Leu251=) | |
14 | g.53950649G>C | CA389784332 | BMP4 | c.610C>G (p.Leu204Val) c.468C>G (n.468C>G) c.421C>G (p.Leu141Val) c.751C>G (p.Leu251Val) | |
14 | g.53950649G>T | CA389784333 | BMP4 | c.610C>A (p.Leu204Met) c.468C>A (n.468C>A) c.421C>A (p.Leu141Met) c.751C>A (p.Leu251Met) | |
14 | g.53950650T>A | CA389784334 | BMP4 | c.609A>T (p.Arg203Ser) c.467A>T (n.467A>T) c.420A>T (p.Arg140Ser) c.750A>T (p.Arg250Ser) | |
14 | g.53950650T>C | CA486658303 | BMP4 | c.609A>G (p.Arg203=) c.467A>G (n.467A>G) c.420A>G (p.Arg140=) c.750A>G (p.Arg250=) | |
14 | g.53950650T>G | CA389784335 | BMP4 | c.609A>C (p.Arg203Ser) c.467A>C (n.467A>C) c.420A>C (p.Arg140Ser) c.750A>C (p.Arg250Ser) | |
14 | g.53950650_53950653del | CA2801617635 | BMP4 | c.606_609del (p.Arg203TrpfsTer6) c.464_467del (n.464_467del) c.417_420del (p.Arg140TrpfsTer6) c.747_750del (p.Arg250TrpfsTer6) | |
14 | g.53950651C>A | CA389784338 | BMP4 | c.608G>T (p.Arg203Ile) c.466G>T (n.466G>T) c.419G>T (p.Arg140Ile) c.749G>T (p.Arg250Ile) | |
14 | g.53950651C>G | CA389784337 | BMP4 | c.608G>C (p.Arg203Thr) c.466G>C (n.466G>C) c.419G>C (p.Arg140Thr) c.749G>C (p.Arg250Thr) | |
14 | g.53950651C>T | CA389784336 | BMP4 | c.608G>A (p.Arg203Lys) c.466G>A (n.466G>A) c.419G>A (p.Arg140Lys) c.749G>A (p.Arg250Lys) | |
14 | g.53950652T>A | CA389784339 | BMP4 | c.607A>T (p.Arg203Ter) c.465A>T (n.465A>T) c.418A>T (p.Arg140Ter) c.748A>T (p.Arg250Ter) | |
14 | g.53950652T>C | CA389784340 | BMP4 | c.607A>G (p.Arg203Gly) c.465A>G (n.465A>G) c.418A>G (p.Arg140Gly) c.748A>G (p.Arg250Gly) | |
14 | g.53950652T>G | CA486658308 | BMP4 | c.607A>C (p.Arg203=) c.465A>C (n.465A>C) c.418A>C (p.Arg140=) c.748A>C (p.Arg250=) | |
14 | g.53950653C>A | CA486658312 | BMP4 | c.606G>T (p.Thr202=) c.464G>T (n.464G>T) c.417G>T (p.Thr139=) c.747G>T (p.Thr249=) | |
14 | g.53950653C= | CA2137817563 | BMP4 | c.606G= (p.Thr202=) c.464G= (n.464G=) c.417G= (p.Thr139=) c.747G= (p.Thr249=) | |
14 | g.53950653C>G | CA486658310 | BMP4 | c.606G>C (p.Thr202=) c.464G>C (n.464G>C) c.417G>C (p.Thr139=) c.747G>C (p.Thr249=) | |
14 | g.53950653C>T | CA7191710 | BMP4 | c.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 |
14 | g.53950654G>A | CA7191711 | BMP4 | c.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 |
14 | g.53950654G>C | CA389784341 | BMP4 | c.605C>G (p.Thr202Arg) c.463C>G (n.463C>G) c.416C>G (p.Thr139Arg) c.746C>G (p.Thr249Arg) | |
14 | g.53950654G= | CA2137817566 | BMP4 | c.605C= (p.Thr202=) c.463C= (n.463C=) c.416C= (p.Thr139=) c.746C= (p.Thr249=) | |
14 | g.53950654G>T | CA389784342 | BMP4 | c.605C>A (p.Thr202Lys) c.463C>A (n.463C>A) c.416C>A (p.Thr139Lys) c.746C>A (p.Thr249Lys) | |
14 | g.53950655del | CA2801617636 | BMP4 | c.604del (p.Thr202ArgfsTer8) c.462del (n.462del) c.415del (p.Thr139ArgfsTer8) c.745del (p.Thr249ArgfsTer8) | |
14 | g.53950655T>A | CA389784343 | BMP4 | c.604A>T (p.Thr202Ser) c.462A>T (n.462A>T) c.415A>T (p.Thr139Ser) c.745A>T (p.Thr249Ser) | |
14 | g.53950655T>C | CA389784344 | BMP4 | c.604A>G (p.Thr202Ala) c.462A>G (n.462A>G) c.415A>G (p.Thr139Ala) c.745A>G (p.Thr249Ala) | |
14 | g.53950655T>G | CA389784345 | BMP4 | c.604A>C (p.Thr202Pro) c.462A>C (n.462A>C) c.415A>C (p.Thr139Pro) c.745A>C (p.Thr249Pro) | |
14 | g.53950656G>A | CA486658320 | BMP4 | c.603C>T (p.Asp201=) c.461C>T (n.461C>T) c.414C>T (p.Asp138=) c.744C>T (p.Asp248=) | |
14 | g.53950656G>C | CA389784346 | BMP4 | c.603C>G (p.Asp201Glu) c.461C>G (n.461C>G) c.414C>G (p.Asp138Glu) c.744C>G (p.Asp248Glu) | |
14 | g.53950656G>T | CA389784347 | BMP4 | c.603C>A (p.Asp201Glu) c.461C>A (n.461C>A) c.414C>A (p.Asp138Glu) c.744C>A (p.Asp248Glu) | |
14 | g.53950657T>A | CA389784348 | BMP4 | c.602A>T (p.Asp201Val) c.460A>T (n.460A>T) c.413A>T (p.Asp138Val) c.743A>T (p.Asp248Val) | |
14 | g.53950657T>C | CA389784349 | BMP4 | c.602A>G (p.Asp201Gly) c.460A>G (n.460A>G) c.413A>G (p.Asp138Gly) c.743A>G (p.Asp248Gly) | |
14 | g.53950657T>G | CA389784350 | BMP4 | c.602A>C (p.Asp201Ala) c.460A>C (n.460A>C) c.413A>C (p.Asp138Ala) c.743A>C (p.Asp248Ala) | dbSNP gnomAD v2 |
14 | g.53950657T= | CA2137817571 | BMP4 | c.602A= (p.Asp201=) c.460A= (n.460A=) c.413A= (p.Asp138=) c.743A= (p.Asp248=) | |
14 | g.53950658C>A | CA389784352 | BMP4 | c.601G>T (p.Asp201Tyr) c.459G>T (n.459G>T) c.412G>T (p.Asp138Tyr) c.742G>T (p.Asp248Tyr) | |
14 | g.53950658C>G | CA389784353 | BMP4 | c.601G>C (p.Asp201His) c.459G>C (n.459G>C) c.412G>C (p.Asp138His) c.742G>C (p.Asp248His) | |
14 | g.53950658C>T | CA389784351 | BMP4 | c.601G>A (p.Asp201Asn) c.459G>A (n.459G>A) c.412G>A (p.Asp138Asn) c.742G>A (p.Asp248Asn) | |
14 | g.53950659C>A | CA486658324 | BMP4 | c.600G>T (p.Leu200=) c.458G>T (n.458G>T) c.411G>T (p.Leu137=) c.741G>T (p.Leu247=) | |
14 | g.53950659C>G | CA486658327 | BMP4 | c.600G>C (p.Leu200=) c.458G>C (n.458G>C) c.411G>C (p.Leu137=) c.741G>C (p.Leu247=) | |
14 | g.53950659C>T | CA486658330 | BMP4 | c.600G>A (p.Leu200=) c.458G>A (n.458G>A) c.411G>A (p.Leu137=) c.741G>A (p.Leu247=) | |
14 | g.53950660A>C | CA389784354 | BMP4 | c.599T>G (p.Leu200Arg) c.457T>G (n.457T>G) c.410T>G (p.Leu137Arg) c.740T>G (p.Leu247Arg) | |
14 | g.53950660A>G | CA389784355 | BMP4 | c.599T>C (p.Leu200Pro) c.457T>C (n.457T>C) c.410T>C (p.Leu137Pro) c.740T>C (p.Leu247Pro) | |
14 | g.53950660A>T | CA389784356 | BMP4 | c.599T>A (p.Leu200Gln) c.457T>A (n.457T>A) c.410T>A (p.Leu137Gln) c.740T>A (p.Leu247Gln) | |
14 | g.53950660_53950669del | CA2801617637 | BMP4 | c.590_599del (p.Thr197ArgfsTer10) c.448_457del (n.448_457del) c.401_410del (p.Thr134ArgfsTer10) c.731_740del (p.Thr244ArgfsTer10) | |
14 | g.53950661G>A | CA486658333 | BMP4 | c.598C>T (p.Leu200=) c.456C>T (n.456C>T) c.409C>T (p.Leu137=) c.739C>T (p.Leu247=) | |
14 | g.53950661G>C | CA389784357 | BMP4 | c.598C>G (p.Leu200Val) c.456C>G (n.456C>G) c.409C>G (p.Leu137Val) c.739C>G (p.Leu247Val) | |
14 | g.53950661G>T | CA389784358 | BMP4 | c.598C>A (p.Leu200Met) c.456C>A (n.456C>A) c.409C>A (p.Leu137Met) c.739C>A (p.Leu247Met) | |
14 | g.53950662T>A | CA486658334 | BMP4 | c.597A>T (p.Leu199=) c.455A>T (n.455A>T) c.408A>T (p.Leu136=) c.738A>T (p.Leu246=) | |
14 | g.53950662T>C | CA486658335 | BMP4 | c.597A>G (p.Leu199=) c.455A>G (n.455A>G) c.408A>G (p.Leu136=) c.738A>G (p.Leu246=) | dbSNP gnomAD v4 |
14 | g.53950662T>G | CA486658336 | BMP4 | c.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 |
14 | g.53950662T= | CA2137817573 | BMP4 | c.597A= (p.Leu199=) c.455A= (n.455A=) c.408A= (p.Leu136=) c.738A= (p.Leu246=) | |
14 | g.53950663A>C | CA389784359 | BMP4 | c.596T>G (p.Leu199Arg) c.454T>G (n.454T>G) c.407T>G (p.Leu136Arg) c.737T>G (p.Leu246Arg) | |
14 | g.53950663A>G | CA389784360 | BMP4 | c.596T>C (p.Leu199Pro) c.454T>C (n.454T>C) c.407T>C (p.Leu136Pro) c.737T>C (p.Leu246Pro) | |
14 | g.53950663A>T | CA389784361 | BMP4 | c.596T>A (p.Leu199Gln) c.454T>A (n.454T>A) c.407T>A (p.Leu136Gln) c.737T>A (p.Leu246Gln) | |
14 | g.53950664G>A | CA486658337 | BMP4 | c.595C>T (p.Leu199=) c.453C>T (n.453C>T) c.406C>T (p.Leu136=) c.736C>T (p.Leu246=) | |
14 | g.53950664G>C | CA389784362 | BMP4 | c.595C>G (p.Leu199Val) c.453C>G (n.453C>G) c.406C>G (p.Leu136Val) c.736C>G (p.Leu246Val) | |
14 | g.53950664G>T | CA389784363 | BMP4 | c.595C>A (p.Leu199Ile) c.453C>A (n.453C>A) c.406C>A (p.Leu136Ile) c.736C>A (p.Leu246Ile) | gnomAD v4 |
14 | g.53950665T>A | CA486658340 | BMP4 | c.594A>T (p.Arg198=) c.452A>T (n.452A>T) c.405A>T (p.Arg135=) c.735A>T (p.Arg245=) | |
14 | g.53950665T>C | CA486658343 | BMP4 | c.594A>G (p.Arg198=) c.452A>G (n.452A>G) c.405A>G (p.Arg135=) c.735A>G (p.Arg245=) | |
14 | g.53950665T>G | CA486658344 | BMP4 | c.594A>C (p.Arg198=) c.452A>C (n.452A>C) c.405A>C (p.Arg135=) c.735A>C (p.Arg245=) | |
14 | g.53950666C>A | CA389784364 | BMP4 | c.593G>T (p.Arg198Leu) c.451G>T (n.451G>T) c.404G>T (p.Arg135Leu) c.734G>T (p.Arg245Leu) | dbSNP gnomAD v4 |
14 | g.53950666C= | CA2137817577 | BMP4 | c.593G= (p.Arg198=) c.451G= (n.451G=) c.404G= (p.Arg135=) c.734G= (p.Arg245=) | |
14 | g.53950666C>G | CA389784365 | BMP4 | c.593G>C (p.Arg198Pro) c.451G>C (n.451G>C) c.404G>C (p.Arg135Pro) c.734G>C (p.Arg245Pro) | |
14 | g.53950666C>T | CA7191712 | BMP4 | c.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 |
14 | g.53950667G>A | CA128505 | BMP4 | c.592C>T (p.Arg198Ter) c.450C>T (n.450C>T) c.403C>T (p.Arg135Ter) c.733C>T (p.Arg245Ter) | ClinVar dbSNP COSMIC |
14 | g.53950667G>C | CA7191713 | BMP4 | c.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 |
14 | g.53950667G= | CA2137817582 | BMP4 | c.592C= (p.Arg198=) c.450C= (n.450C=) c.403C= (p.Arg135=) c.733C= (p.Arg245=) | |
14 | g.53950667G>T | CA486658347 | BMP4 | c.592C>A (p.Arg198=) c.450C>A (n.450C>A) c.403C>A (p.Arg135=) c.733C>A (p.Arg245=) | dbSNP |
14 | g.53950668T>A | CA486658349 | BMP4 | c.591A>T (p.Thr197=) c.449A>T (n.449A>T) c.402A>T (p.Thr134=) c.732A>T (p.Thr244=) | |
14 | g.53950668T>C | CA486658350 | BMP4 | c.591A>G (p.Thr197=) c.449A>G (n.449A>G) c.402A>G (p.Thr134=) c.732A>G (p.Thr244=) | |
14 | g.53950668T>G | CA486658351 | BMP4 | c.591A>C (p.Thr197=) c.449A>C (n.449A>C) c.402A>C (p.Thr134=) c.732A>C (p.Thr244=) | |
14 | g.53950669G>A | CA7191714 | BMP4 | c.590C>T (p.Thr197Ile) c.448C>T (n.448C>T) c.401C>T (p.Thr134Ile) c.731C>T (p.Thr244Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53950669G>C | CA389784366 | BMP4 | c.590C>G (p.Thr197Arg) c.448C>G (n.448C>G) c.401C>G (p.Thr134Arg) c.731C>G (p.Thr244Arg) | |
14 | g.53950669G= | CA2137817589 | BMP4 | c.590C= (p.Thr197=) c.448C= (n.448C=) c.401C= (p.Thr134=) c.731C= (p.Thr244=) | |
14 | g.53950669G>T | CA389784367 | BMP4 | c.590C>A (p.Thr197Lys) c.448C>A (n.448C>A) c.401C>A (p.Thr134Lys) c.731C>A (p.Thr244Lys) | |
14 | g.53950670T>A | CA389784368 | BMP4 | c.589A>T (p.Thr197Ser) c.447A>T (n.447A>T) c.400A>T (p.Thr134Ser) c.730A>T (p.Thr244Ser) | |
14 | g.53950670T>C | CA389784369 | BMP4 | c.589A>G (p.Thr197Ala) c.447A>G (n.447A>G) c.400A>G (p.Thr134Ala) c.730A>G (p.Thr244Ala) | |
14 | g.53950670T>G | CA389784370 | BMP4 | c.589A>C (p.Thr197Pro) c.447A>C (n.447A>C) c.400A>C (p.Thr134Pro) c.730A>C (p.Thr244Pro) | |
14 | g.53950671G>A | CA486658356 | BMP4 | c.588C>T (p.Ile196=) c.446C>T (n.446C>T) c.399C>T (p.Ile133=) c.729C>T (p.Ile243=) | |
14 | g.53950671G>C | CA389784371 | BMP4 | c.588C>G (p.Ile196Met) c.446C>G (n.446C>G) c.399C>G (p.Ile133Met) c.729C>G (p.Ile243Met) | |
14 | g.53950671G>T | CA486658354 | BMP4 | c.588C>A (p.Ile196=) c.446C>A (n.446C>A) c.399C>A (p.Ile133=) c.729C>A (p.Ile243=) | |
14 | g.53950672A>C | CA389784372 | BMP4 | c.587T>G (p.Ile196Ser) c.445T>G (n.445T>G) c.398T>G (p.Ile133Ser) c.728T>G (p.Ile243Ser) | |
14 | g.53950672A>G | CA389784373 | BMP4 | c.587T>C (p.Ile196Thr) c.445T>C (n.445T>C) c.398T>C (p.Ile133Thr) c.728T>C (p.Ile243Thr) | |
14 | g.53950672A>T | CA389784374 | BMP4 | c.587T>A (p.Ile196Asn) c.445T>A (n.445T>A) c.398T>A (p.Ile133Asn) c.728T>A (p.Ile243Asn) | |
14 | g.53950673T>A | CA389784375 | BMP4 | c.586A>T (p.Ile196Phe) c.444A>T (n.444A>T) c.397A>T (p.Ile133Phe) c.727A>T (p.Ile243Phe) | gnomAD v4 |
14 | g.53950673T>C | CA389784376 | BMP4 | c.586A>G (p.Ile196Val) c.444A>G (n.444A>G) c.397A>G (p.Ile133Val) c.727A>G (p.Ile243Val) | |
14 | g.53950673T>G | CA389784377 | BMP4 | c.586A>C (p.Ile196Leu) c.444A>C (n.444A>C) c.397A>C (p.Ile133Leu) c.727A>C (p.Ile243Leu) | |
14 | g.53950674G>A | CA486658358 | BMP4 | c.585C>T (p.Leu195=) c.443C>T (n.443C>T) c.396C>T (p.Leu132=) c.726C>T (p.Leu242=) | COSMIC |
14 | g.53950674G>C | CA486658359 | BMP4 | c.585C>G (p.Leu195=) c.443C>G (n.443C>G) c.396C>G (p.Leu132=) c.726C>G (p.Leu242=) | |
14 | g.53950674G>T | CA486658361 | BMP4 | c.585C>A (p.Leu195=) c.443C>A (n.443C>A) c.396C>A (p.Leu132=) c.726C>A (p.Leu242=) | |
14 | g.53950675A>C | CA389784378 | BMP4 | c.584T>G (p.Leu195Arg) c.442T>G (n.442T>G) c.395T>G (p.Leu132Arg) c.725T>G (p.Leu242Arg) | |
14 | g.53950675A>G | CA389784380 | BMP4 | c.584T>C (p.Leu195Pro) c.442T>C (n.442T>C) c.395T>C (p.Leu132Pro) c.725T>C (p.Leu242Pro) | |
14 | g.53950675A>T | CA389784379 | BMP4 | c.584T>A (p.Leu195His) c.442T>A (n.442T>A) c.395T>A (p.Leu132His) c.725T>A (p.Leu242His) | |
14 | g.53950676G>A | CA389784381 | BMP4 | c.583C>T (p.Leu195Phe) c.441C>T (n.441C>T) c.394C>T (p.Leu132Phe) c.724C>T (p.Leu242Phe) | |
14 | g.53950676G>C | CA389784382 | BMP4 | c.583C>G (p.Leu195Val) c.441C>G (n.441C>G) c.394C>G (p.Leu132Val) c.724C>G (p.Leu242Val) | |
14 | g.53950676G>T | CA389784383 | BMP4 | c.583C>A (p.Leu195Ile) c.441C>A (n.441C>A) c.394C>A (p.Leu132Ile) c.724C>A (p.Leu242Ile) | gnomAD v4 |
14 | g.53950677G>A | CA261472677 | BMP4 | c.582C>T (p.His194=) c.440C>T (n.440C>T) c.393C>T (p.His131=) c.723C>T (p.His241=) | ClinVar dbSNP gnomAD v4 |
14 | g.53950677G>C | CA389784384 | BMP4 | c.582C>G (p.His194Gln) c.440C>G (n.440C>G) c.393C>G (p.His131Gln) c.723C>G (p.His241Gln) | |
14 | g.53950677G= | CA2137817597 | BMP4 | c.582C= (p.His194=) c.440C= (n.440C=) c.393C= (p.His131=) c.723C= (p.His241=) | |
14 | g.53950677G>T | CA389784385 | BMP4 | c.582C>A (p.His194Gln) c.440C>A (n.440C>A) c.393C>A (p.His131Gln) c.723C>A (p.His241Gln) | |
14 | g.53950678T>A | CA389784388 | BMP4 | c.581A>T (p.His194Leu) c.439A>T (n.439A>T) c.392A>T (p.His131Leu) c.722A>T (p.His241Leu) | |
14 | g.53950678T>C | CA389784387 | BMP4 | c.581A>G (p.His194Arg) c.439A>G (n.439A>G) c.392A>G (p.His131Arg) c.722A>G (p.His241Arg) | |
14 | g.53950678T>G | CA389784386 | BMP4 | c.581A>C (p.His194Pro) c.439A>C (n.439A>C) c.392A>C (p.His131Pro) c.722A>C (p.His241Pro) | |
14 | g.53950679G>A | CA389784389 | BMP4 | c.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 |
14 | g.53950679G>C | CA389784390 | BMP4 | c.580C>G (p.His194Asp) c.438C>G (n.438C>G) c.391C>G (p.His131Asp) c.721C>G (p.His241Asp) | |
14 | g.53950679G= | CA2137817604 | BMP4 | c.580C= (p.His194=) c.438C= (n.438C=) c.391C= (p.His131=) c.721C= (p.His241=) | |
14 | g.53950679G>T | CA389784391 | BMP4 | c.580C>A (p.His194Asn) c.438C>A (n.438C>A) c.391C>A (p.His131Asn) c.721C>A (p.His241Asn) | |
14 | g.53950680C>A | CA486658371 | BMP4 | c.579G>T (p.Gly193=) c.437G>T (n.437G>T) c.390G>T (p.Gly130=) c.720G>T (p.Gly240=) | gnomAD v4 |
14 | g.53950680C= | CA2137817608 | BMP4 | c.579G= (p.Gly193=) c.437G= (n.437G=) c.390G= (p.Gly130=) c.720G= (p.Gly240=) | |
14 | g.53950680C>G | CA486658373 | BMP4 | c.579G>C (p.Gly193=) c.437G>C (n.437G>C) c.390G>C (p.Gly130=) c.720G>C (p.Gly240=) | |
14 | g.53950680C>T | CA486658375 | BMP4 | c.579G>A (p.Gly193=) c.437G>A (n.437G>A) c.390G>A (p.Gly130=) c.720G>A (p.Gly240=) | dbSNP |
14 | g.53950682dup | CA2843401203 | BMP4 | c.579dup (p.His194AlafsTer23) c.437dup (n.437dup) c.390dup (p.His131AlafsTer23) c.720dup (p.His241AlafsTer23) | |
14 | g.53950681C>A | CA7191715 | BMP4 | c.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 |
14 | g.53950681C= | CA2137817610 | BMP4 | c.578G= (p.Gly193=) c.436G= (n.436G=) c.389G= (p.Gly130=) c.719G= (p.Gly240=) | |
14 | g.53950681C>G | CA389784392 | BMP4 | c.578G>C (p.Gly193Ala) c.436G>C (n.436G>C) c.389G>C (p.Gly130Ala) c.719G>C (p.Gly240Ala) | |
14 | g.53950681C>T | CA389784393 | BMP4 | c.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 |
14 | g.53950682C>A | CA389784396 | BMP4 | c.577G>T (p.Gly193Trp) c.435G>T (n.435G>T) c.388G>T (p.Gly130Trp) c.718G>T (p.Gly240Trp) | |
14 | g.53950682C>G | CA389784394 | BMP4 | c.577G>C (p.Gly193Arg) c.435G>C (n.435G>C) c.388G>C (p.Gly130Arg) c.718G>C (p.Gly240Arg) | |
14 | g.53950682C>T | CA389784395 | BMP4 | c.577G>A (p.Gly193Arg) c.435G>A (n.435G>A) c.388G>A (p.Gly130Arg) c.718G>A (p.Gly240Arg) | |
14 | g.53950683A>C | CA486658378 | BMP4 | c.576T>G (p.Pro192=) c.434T>G (n.434T>G) c.387T>G (p.Pro129=) c.717T>G (p.Pro239=) | |
14 | g.53950683A>G | CA486658379 | BMP4 | c.576T>C (p.Pro192=) c.434T>C (n.434T>C) c.387T>C (p.Pro129=) c.717T>C (p.Pro239=) | |
14 | g.53950683A>T | CA486658381 | BMP4 | c.576T>A (p.Pro192=) c.434T>A (n.434T>A) c.387T>A (p.Pro129=) c.717T>A (p.Pro239=) | |
14 | g.53950684G>A | CA389784397 | BMP4 | c.575C>T (p.Pro192Leu) c.433C>T (n.433C>T) c.386C>T (p.Pro129Leu) c.716C>T (p.Pro239Leu) | |
14 | g.53950684G>C | CA389784398 | BMP4 | c.575C>G (p.Pro192Arg) c.433C>G (n.433C>G) c.386C>G (p.Pro129Arg) c.716C>G (p.Pro239Arg) | |
14 | g.53950684G>T | CA389784399 | BMP4 | c.575C>A (p.Pro192His) c.433C>A (n.433C>A) c.386C>A (p.Pro129His) c.716C>A (p.Pro239His) | |
14 | g.53950685G>A | CA389784400 | BMP4 | c.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 |
14 | g.53950685G>C | CA389784401 | BMP4 | c.574C>G (p.Pro192Ala) c.432C>G (n.432C>G) c.385C>G (p.Pro129Ala) c.715C>G (p.Pro239Ala) | |
14 | g.53950685G= | CA2137817614 | BMP4 | c.574C= (p.Pro192=) c.432C= (n.432C=) c.385C= (p.Pro129=) c.715C= (p.Pro239=) | |
14 | g.53950685G>T | CA389784402 | BMP4 | c.574C>A (p.Pro192Thr) c.432C>A (n.432C>A) c.385C>A (p.Pro129Thr) c.715C>A (p.Pro239Thr) | |
14 | g.53950686C>A | CA486658386 | BMP4 | c.573G>T (p.Val191=) c.431G>T (n.431G>T) c.384G>T (p.Val128=) c.714G>T (p.Val238=) | |
14 | g.53950686C= | CA2137817618 | BMP4 | c.573G= (p.Val191=) c.431G= (n.431G=) c.384G= (p.Val128=) c.714G= (p.Val238=) | |
14 | g.53950686C>G | CA486658387 | BMP4 | c.573G>C (p.Val191=) c.431G>C (n.431G>C) c.384G>C (p.Val128=) c.714G>C (p.Val238=) | |
14 | g.53950686C>T | CA486658388 | BMP4 | c.573G>A (p.Val191=) c.431G>A (n.431G>A) c.384G>A (p.Val128=) c.714G>A (p.Val238=) | dbSNP |
14 | g.53950687A>C | CA389784403 | BMP4 | c.572T>G (p.Val191Gly) c.430T>G (n.430T>G) c.383T>G (p.Val128Gly) c.713T>G (p.Val238Gly) | |
14 | g.53950687A>G | CA389784404 | BMP4 | c.572T>C (p.Val191Ala) c.430T>C (n.430T>C) c.383T>C (p.Val128Ala) c.713T>C (p.Val238Ala) | |
14 | g.53950687A>T | CA389784405 | BMP4 | c.572T>A (p.Val191Glu) c.430T>A (n.430T>A) c.383T>A (p.Val128Glu) c.713T>A (p.Val238Glu) | |
14 | g.53950688C>A | CA389784406 | BMP4 | c.571G>T (p.Val191Leu) c.429G>T (n.429G>T) c.382G>T (p.Val128Leu) c.712G>T (p.Val238Leu) | dbSNP |
14 | g.53950688C= | CA2137817621 | BMP4 | c.571G= (p.Val191=) c.429G= (n.429G=) c.382G= (p.Val128=) c.712G= (p.Val238=) | |
14 | g.53950688C>G | CA389784407 | BMP4 | c.571G>C (p.Val191Leu) c.429G>C (n.429G>C) c.382G>C (p.Val128Leu) c.712G>C (p.Val238Leu) | |
14 | g.53950688C>T | CA389784408 | BMP4 | c.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 |
14 | g.53950689C>A | CA486658392 | BMP4 | c.570G>T (p.Val190=) c.428G>T (n.428G>T) c.381G>T (p.Val127=) c.711G>T (p.Val237=) | |
14 | g.53950689C= | CA2137817626 | BMP4 | c.570G= (p.Val190=) c.428G= (n.428G=) c.381G= (p.Val127=) c.711G= (p.Val237=) | |
14 | g.53950689C>G | CA486658395 | BMP4 | c.570G>C (p.Val190=) c.428G>C (n.428G>C) c.381G>C (p.Val127=) c.711G>C (p.Val237=) | |
14 | g.53950689C>T | CA486658398 | BMP4 | c.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 |
14 | g.53950690A>C | CA389784409 | BMP4 | c.569T>G (p.Val190Gly) c.427T>G (n.427T>G) c.380T>G (p.Val127Gly) c.710T>G (p.Val237Gly) | |
14 | g.53950690A>G | CA389784411 | BMP4 | c.569T>C (p.Val190Ala) c.427T>C (n.427T>C) c.380T>C (p.Val127Ala) c.710T>C (p.Val237Ala) | |
14 | g.53950690A>T | CA389784410 | BMP4 | c.569T>A (p.Val190Glu) c.427T>A (n.427T>A) c.380T>A (p.Val127Glu) c.710T>A (p.Val237Glu) | gnomAD v4 |
14 | g.53950691C>A | CA389784412 | BMP4 | c.568G>T (p.Val190Leu) c.426G>T (n.426G>T) c.379G>T (p.Val127Leu) c.709G>T (p.Val237Leu) | |
14 | g.53950691C= | CA2137817630 | BMP4 | c.568G= (p.Val190=) c.426G= (n.426G=) c.379G= (p.Val127=) c.709G= (p.Val237=) | |
14 | g.53950691C>G | CA389784413 | BMP4 | c.568G>C (p.Val190Leu) c.426G>C (n.426G>C) c.379G>C (p.Val127Leu) c.709G>C (p.Val237Leu) | dbSNP |
14 | g.53950691C>T | CA7191716 | BMP4 | c.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 |
14 | g.53950692T>A | CA389784414 | BMP4 | c.567A>T (p.Glu189Asp) c.425A>T (n.425A>T) c.378A>T (p.Glu126Asp) c.708A>T (p.Glu236Asp) | |
14 | g.53950692T>C | CA486658402 | BMP4 | c.567A>G (p.Glu189=) c.425A>G (n.425A>G) c.378A>G (p.Glu126=) c.708A>G (p.Glu236=) | |
14 | g.53950692T>G | CA389784415 | BMP4 | c.567A>C (p.Glu189Asp) c.425A>C (n.425A>C) c.378A>C (p.Glu126Asp) c.708A>C (p.Glu236Asp) | |
14 | g.53950693T>A | CA7191717 | BMP4 | c.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 |
14 | g.53950693T>C | CA389784416 | BMP4 | c.566A>G (p.Glu189Gly) c.424A>G (n.424A>G) c.377A>G (p.Glu126Gly) c.707A>G (p.Glu236Gly) | |
14 | g.53950693T>G | CA389784417 | BMP4 | c.566A>C (p.Glu189Ala) c.424A>C (n.424A>C) c.377A>C (p.Glu126Ala) c.707A>C (p.Glu236Ala) | |
14 | g.53950693T= | CA2137817637 | BMP4 | c.566A= (p.Glu189=) c.424A= (n.424A=) c.377A= (p.Glu126=) c.707A= (p.Glu236=) | |
14 | g.53950694C>A | CA389784418 | BMP4 | c.565G>T (p.Glu189Ter) c.423G>T (n.423G>T) c.376G>T (p.Glu126Ter) c.706G>T (p.Glu236Ter) | |
14 | g.53950694C>G | CA389784419 | BMP4 | c.565G>C (p.Glu189Gln) c.423G>C (n.423G>C) c.376G>C (p.Glu126Gln) c.706G>C (p.Glu236Gln) | |
14 | g.53950694C>T | CA389784420 | BMP4 | c.565G>A (p.Glu189Lys) c.423G>A (n.423G>A) c.376G>A (p.Glu126Lys) c.706G>A (p.Glu236Lys) | gnomAD v4 |
14 | g.53950695T>A | CA486658408 | BMP4 | c.564A>T (p.Ala188=) c.422A>T (n.422A>T) c.375A>T (p.Ala125=) c.705A>T (p.Ala235=) | |
14 | g.53950695T>C | CA486658405 | BMP4 | c.564A>G (p.Ala188=) c.422A>G (n.422A>G) c.375A>G (p.Ala125=) c.705A>G (p.Ala235=) | |
14 | g.53950695T>G | CA486658406 | BMP4 | c.564A>C (p.Ala188=) c.422A>C (n.422A>C) c.375A>C (p.Ala125=) c.705A>C (p.Ala235=) | |
14 | g.53950696G>A | CA7191718 | BMP4 | c.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 |
14 | g.53950696G>C | CA389784422 | BMP4 | c.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 |
14 | g.53950696G= | CA2137817640 | BMP4 | c.563C= (p.Ala188=) c.421C= (n.421C=) c.374C= (p.Ala125=) c.704C= (p.Ala235=) | |
14 | g.53950696G>T | CA389784421 | BMP4 | c.563C>A (p.Ala188Glu) c.421C>A (n.421C>A) c.374C>A (p.Ala125Glu) c.704C>A (p.Ala235Glu) | |
14 | g.53950697C>A | CA389784423 | BMP4 | c.562G>T (p.Ala188Ser) c.420G>T (n.420G>T) c.373G>T (p.Ala125Ser) c.703G>T (p.Ala235Ser) | |
14 | g.53950697C>G | CA389784424 | BMP4 | c.562G>C (p.Ala188Pro) c.420G>C (n.420G>C) c.373G>C (p.Ala125Pro) c.703G>C (p.Ala235Pro) | |
14 | g.53950697C>T | CA389784425 | BMP4 | c.562G>A (p.Ala188Thr) c.420G>A (n.420G>A) c.373G>A (p.Ala125Thr) c.703G>A (p.Ala235Thr) | |
14 | g.53950698T>A | CA486658412 | BMP4 | c.561A>T (p.Pro187=) c.419A>T (n.419A>T) c.372A>T (p.Pro124=) c.702A>T (p.Pro234=) | |
14 | g.53950698T>C | CA486658414 | BMP4 | c.561A>G (p.Pro187=) c.419A>G (n.419A>G) c.372A>G (p.Pro124=) c.702A>G (p.Pro234=) | |
14 | g.53950698T>G | CA486658413 | BMP4 | c.561A>C (p.Pro187=) c.419A>C (n.419A>C) c.372A>C (p.Pro124=) c.702A>C (p.Pro234=) | |
14 | g.53950700_53950722del | CA2740097932 | BMP4 | c.539_561del (p.Ile180SerfsTer29) c.397_419del (n.397_419del) c.350_372del (p.Ile117SerfsTer29) c.680_702del (p.Ile227SerfsTer29) | ClinVar |
14 | g.53950699G>A | CA7191719 | BMP4 | c.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 |
14 | g.53950699G>C | CA389784426 | BMP4 | c.560C>G (p.Pro187Arg) c.418C>G (n.418C>G) c.371C>G (p.Pro124Arg) c.701C>G (p.Pro234Arg) | |
14 | g.53950699G= | CA2137817646 | BMP4 | c.560C= (p.Pro187=) c.418C= (n.418C=) c.371C= (p.Pro124=) c.701C= (p.Pro234=) | |
14 | g.53950699G>T | CA389784427 | BMP4 | c.560C>A (p.Pro187Gln) c.418C>A (n.418C>A) c.371C>A (p.Pro124Gln) c.701C>A (p.Pro234Gln) | |
14 | g.53950700G>A | CA389784428 | BMP4 | c.559C>T (p.Pro187Ser) c.417C>T (n.417C>T) c.370C>T (p.Pro124Ser) c.700C>T (p.Pro234Ser) | |
14 | g.53950700G>C | CA389784429 | BMP4 | c.559C>G (p.Pro187Ala) c.417C>G (n.417C>G) c.370C>G (p.Pro124Ala) c.700C>G (p.Pro234Ala) | |
14 | g.53950700G>T | CA389784430 | BMP4 | c.559C>A (p.Pro187Thr) c.417C>A (n.417C>A) c.370C>A (p.Pro124Thr) c.700C>A (p.Pro234Thr) | |
14 | g.53950701G>A | CA486658416 | BMP4 | c.558C>T (p.Pro186=) c.416C>T (n.416C>T) c.369C>T (p.Pro123=) c.699C>T (p.Pro233=) | |
14 | g.53950701G>C | CA486658417 | BMP4 | c.558C>G (p.Pro186=) c.416C>G (n.416C>G) c.369C>G (p.Pro123=) c.699C>G (p.Pro233=) | |
14 | g.53950701G>T | CA486658418 | BMP4 | c.558C>A (p.Pro186=) c.416C>A (n.416C>A) c.369C>A (p.Pro123=) c.699C>A (p.Pro233=) | |
14 | g.53950702G>A | CA389784431 | BMP4 | c.557C>T (p.Pro186Leu) c.415C>T (n.415C>T) c.368C>T (p.Pro123Leu) c.698C>T (p.Pro233Leu) | |
14 | g.53950702G>C | CA389784432 | BMP4 | c.557C>G (p.Pro186Arg) c.415C>G (n.415C>G) c.368C>G (p.Pro123Arg) c.698C>G (p.Pro233Arg) | |
14 | g.53950702G>T | CA389784433 | BMP4 | c.557C>A (p.Pro186His) c.415C>A (n.415C>A) c.368C>A (p.Pro123His) c.698C>A (p.Pro233His) | |
14 | g.53950703G>A | CA389784436 | BMP4 | c.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 |
14 | g.53950703G>C | CA389784435 | BMP4 | c.556C>G (p.Pro186Ala) c.414C>G (n.414C>G) c.367C>G (p.Pro123Ala) c.697C>G (p.Pro233Ala) | |
14 | g.53950703G= | CA2137817652 | BMP4 | c.556C= (p.Pro186=) c.414C= (n.414C=) c.367C= (p.Pro123=) c.697C= (p.Pro233=) | |
14 | g.53950703G>T | CA389784434 | BMP4 | c.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 |
14 | g.53950704C>A | CA389784437 | BMP4 | c.555G>T (p.Lys185Asn) c.413G>T (n.413G>T) c.366G>T (p.Lys122Asn) c.696G>T (p.Lys232Asn) | |
14 | g.53950704C>G | CA389784438 | BMP4 | c.555G>C (p.Lys185Asn) c.413G>C (n.413G>C) c.366G>C (p.Lys122Asn) c.696G>C (p.Lys232Asn) | |
14 | g.53950704C>T | CA486658422 | BMP4 | c.555G>A (p.Lys185=) c.413G>A (n.413G>A) c.366G>A (p.Lys122=) c.696G>A (p.Lys232=) | |
14 | g.53950704dup | CA2843401204 | BMP4 | c.555dup (p.Pro186AlafsTer?) c.413dup (n.413dup) c.366dup (p.Pro123AlafsTer?) c.696dup (p.Pro233AlafsTer?) | |
14 | g.53950705T>A | CA389784439 | BMP4 | c.554A>T (p.Lys185Met) c.412A>T (n.412A>T) c.365A>T (p.Lys122Met) c.695A>T (p.Lys232Met) | |
14 | g.53950705T>C | CA389784441 | BMP4 | c.554A>G (p.Lys185Arg) c.412A>G (n.412A>G) c.365A>G (p.Lys122Arg) c.695A>G (p.Lys232Arg) | |
14 | g.53950705T>G | CA389784440 | BMP4 | c.554A>C (p.Lys185Thr) c.412A>C (n.412A>C) c.365A>C (p.Lys122Thr) c.695A>C (p.Lys232Thr) | |
14 | g.53950706T>A | CA389784442 | BMP4 | c.553A>T (p.Lys185Ter) c.411A>T (n.411A>T) c.364A>T (p.Lys122Ter) c.694A>T (p.Lys232Ter) | |
14 | g.53950706T>C | CA389784443 | BMP4 | c.553A>G (p.Lys185Glu) c.411A>G (n.411A>G) c.364A>G (p.Lys122Glu) c.694A>G (p.Lys232Glu) | |
14 | g.53950706T>G | CA389784444 | BMP4 | c.553A>C (p.Lys185Gln) c.411A>C (n.411A>C) c.364A>C (p.Lys122Gln) c.694A>C (p.Lys232Gln) |