Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.53952048C>A | CA389785419 | BMP4 | c.175G>T (p.Ala59Ser) c.100G>T (p.Ala34Ser) c.-15G>T (n.-15G>T) c.316G>T (p.Ala106Ser) | |
14 | g.53952048C>G | CA389785417 | BMP4 | c.175G>C (p.Ala59Pro) c.100G>C (p.Ala34Pro) c.-15G>C (n.-15G>C) c.316G>C (p.Ala106Pro) | |
14 | g.53952048C>T | CA389785418 | BMP4 | c.175G>A (p.Ala59Thr) c.100G>A (p.Ala34Thr) c.-15G>A (n.-15G>A) c.316G>A (p.Ala106Thr) | |
14 | g.53952049C>A | CA389785420 | BMP4 | c.174G>T (p.Glu58Asp) c.99G>T (p.Glu33Asp) c.-16G>T (n.-16G>T) c.315G>T (p.Glu105Asp) | |
14 | g.53952049C>G | CA389785421 | BMP4 | c.174G>C (p.Glu58Asp) c.99G>C (p.Glu33Asp) c.-16G>C (n.-16G>C) c.315G>C (p.Glu105Asp) | |
14 | g.53952049C>T | CA486658833 | BMP4 | c.174G>A (p.Glu58=) c.99G>A (p.Glu33=) c.-16G>A (n.-16G>A) c.315G>A (p.Glu105=) | gnomAD v4 |
14 | g.53952050T>A | CA389785422 | BMP4 | c.173A>T (p.Glu58Val) c.98A>T (p.Glu33Val) c.-17A>T (n.-17A>T) c.314A>T (p.Glu105Val) | |
14 | g.53952050T>C | CA7191815 | BMP4 | c.173A>G (p.Glu58Gly) c.98A>G (p.Glu33Gly) c.-17A>G (n.-17A>G) c.314A>G (p.Glu105Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.53952050T>G | CA389785423 | BMP4 | c.173A>C (p.Glu58Ala) c.98A>C (p.Glu33Ala) c.-17A>C (n.-17A>C) c.314A>C (p.Glu105Ala) | |
14 | g.53952050T= | CA2137819336 | BMP4 | c.173A= (p.Glu58=) c.98A= (p.Glu33=) c.-17A= (n.-17A=) c.314A= (p.Glu105=) | |
14 | g.53952051C>A | CA389785424 | BMP4 | c.172G>T (p.Glu58Ter) c.97G>T (p.Glu33Ter) c.-18G>T (n.-18G>T) c.313G>T (p.Glu105Ter) | |
14 | g.53952051C= | CA2137819344 | BMP4 | c.172G= (p.Glu58=) c.97G= (p.Glu33=) c.-18G= (n.-18G=) c.313G= (p.Glu105=) | |
14 | g.53952051C>G | CA7191816 | BMP4 | c.172G>C (p.Glu58Gln) c.97G>C (p.Glu33Gln) c.-18G>C (n.-18G>C) c.313G>C (p.Glu105Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.53952051C>T | CA389785425 | BMP4 | c.172G>A (p.Glu58Lys) c.97G>A (p.Glu33Lys) c.-18G>A (n.-18G>A) c.313G>A (p.Glu105Lys) | dbSNP gnomAD v4 |
14 | g.53952052G>A | CA486658837 | BMP4 | c.171C>T (p.Phe57=) c.96C>T (p.Phe32=) c.-19C>T (n.-19C>T) c.312C>T (p.Phe104=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.53952052G>C | CA7191817 | BMP4 | c.171C>G (p.Phe57Leu) c.96C>G (p.Phe32Leu) c.-19C>G (n.-19C>G) c.312C>G (p.Phe104Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.53952052G= | CA2137819347 | BMP4 | c.171C= (p.Phe57=) c.96C= (p.Phe32=) c.-19C= (n.-19C=) c.312C= (p.Phe104=) | |
14 | g.53952052G>T | CA389785426 | BMP4 | c.171C>A (p.Phe57Leu) c.96C>A (p.Phe32Leu) c.-19C>A (n.-19C>A) c.312C>A (p.Phe104Leu) | |
14 | g.53952052dup | CA2580088246 | BMP4 | c.171dup (p.Glu58ArgfsTer17) c.96dup (p.Glu33ArgfsTer17) c.-19dup (n.-19dup) c.312dup (p.Glu105ArgfsTer17) | ClinVar dbSNP |
14 | g.53952053A>C | CA389785427 | BMP4 | c.170T>G (p.Phe57Cys) c.95T>G (p.Phe32Cys) c.-20T>G (n.-20T>G) c.311T>G (p.Phe104Cys) | |
14 | g.53952053A>G | CA389785428 | BMP4 | c.170T>C (p.Phe57Ser) c.95T>C (p.Phe32Ser) c.-20T>C (n.-20T>C) c.311T>C (p.Phe104Ser) | |
14 | g.53952053A>T | CA389785429 | BMP4 | c.170T>A (p.Phe57Tyr) c.95T>A (p.Phe32Tyr) c.-20T>A (n.-20T>A) c.311T>A (p.Phe104Tyr) | |
14 | g.53952054A>C | CA389785430 | BMP4 | c.169T>G (p.Phe57Val) c.94T>G (p.Phe32Val) c.-21T>G (n.-21T>G) c.310T>G (p.Phe104Val) | |
14 | g.53952054A>G | CA389785431 | BMP4 | c.169T>C (p.Phe57Leu) c.94T>C (p.Phe32Leu) c.-21T>C (n.-21T>C) c.310T>C (p.Phe104Leu) | ClinVar |
14 | g.53952054A>T | CA389785432 | BMP4 | c.169T>A (p.Phe57Ile) c.94T>A (p.Phe32Ile) c.-21T>A (n.-21T>A) c.310T>A (p.Phe104Ile) | |
14 | g.53952055G>A | CA486658838 | BMP4 | c.168C>T (p.Asp56=) c.93C>T (p.Asp31=) c.-22C>T (n.-22C>T) c.309C>T (p.Asp103=) | gnomAD v4 |
14 | g.53952055G>C | CA389785433 | BMP4 | c.168C>G (p.Asp56Glu) c.93C>G (p.Asp31Glu) c.-22C>G (n.-22C>G) c.309C>G (p.Asp103Glu) | |
14 | g.53952055G= | CA2137819350 | BMP4 | c.168C= (p.Asp56=) c.93C= (p.Asp31=) c.-22C= (n.-22C=) c.309C= (p.Asp103=) | |
14 | g.53952055G>T | CA7191818 | BMP4 | c.168C>A (p.Asp56Glu) c.93C>A (p.Asp31Glu) c.-22C>A (n.-22C>A) c.309C>A (p.Asp103Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53952056T>A | CA389785436 | BMP4 | c.167A>T (p.Asp56Val) c.92A>T (p.Asp31Val) c.-23A>T (n.-23A>T) c.308A>T (p.Asp103Val) | ClinVar |
14 | g.53952056T>C | CA389785434 | BMP4 | c.167A>G (p.Asp56Gly) c.92A>G (p.Asp31Gly) c.-23A>G (n.-23A>G) c.308A>G (p.Asp103Gly) | |
14 | g.53952056T>G | CA389785435 | BMP4 | c.167A>C (p.Asp56Ala) c.92A>C (p.Asp31Ala) c.-23A>C (n.-23A>C) c.308A>C (p.Asp103Ala) | |
14 | g.53952057C>A | CA389785437 | BMP4 | c.166G>T (p.Asp56Tyr) c.91G>T (p.Asp31Tyr) c.-24G>T (n.-24G>T) c.307G>T (p.Asp103Tyr) | |
14 | g.53952057C>G | CA389785439 | BMP4 | c.166G>C (p.Asp56His) c.91G>C (p.Asp31His) c.-24G>C (n.-24G>C) c.307G>C (p.Asp103His) | |
14 | g.53952057C>T | CA389785438 | BMP4 | c.166G>A (p.Asp56Asn) c.91G>A (p.Asp31Asn) c.-24G>A (n.-24G>A) c.307G>A (p.Asp103Asn) | |
14 | g.53952058C>A | CA486658843 | BMP4 | c.165G>T (p.Arg55=) c.90G>T (p.Arg30=) c.-25G>T (n.-25G>T) c.306G>T (p.Arg102=) | gnomAD v4 |
14 | g.53952058C= | CA2137819352 | BMP4 | c.165G= (p.Arg55=) c.90G= (p.Arg30=) c.-25G= (n.-25G=) c.306G= (p.Arg102=) | |
14 | g.53952058C>G | CA486658844 | BMP4 | c.165G>C (p.Arg55=) c.90G>C (p.Arg30=) c.-25G>C (n.-25G>C) c.306G>C (p.Arg102=) | |
14 | g.53952058C>T | CA7191819 | BMP4 | c.165G>A (p.Arg55=) c.90G>A (p.Arg30=) c.-25G>A (n.-25G>A) c.306G>A (p.Arg102=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.53952059C>A | CA389785441 | BMP4 | c.164G>T (p.Arg55Leu) c.89G>T (p.Arg30Leu) c.-26G>T (n.-26G>T) c.305G>T (p.Arg102Leu) | dbSNP |
14 | g.53952059C= | CA2137819356 | BMP4 | c.164G= (p.Arg55=) c.89G= (p.Arg30=) c.-26G= (n.-26G=) c.305G= (p.Arg102=) | |
14 | g.53952059C>G | CA389785440 | BMP4 | c.164G>C (p.Arg55Pro) c.89G>C (p.Arg30Pro) c.-26G>C (n.-26G>C) c.305G>C (p.Arg102Pro) | gnomAD v4 |
14 | g.53952059C>T | CA7191820 | BMP4 | c.164G>A (p.Arg55Gln) c.89G>A (p.Arg30Gln) c.-26G>A (n.-26G>A) c.305G>A (p.Arg102Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
14 | g.53952060G>A | CA7191821 | BMP4 | c.163C>T (p.Arg55Trp) c.88C>T (p.Arg30Trp) c.-27C>T (n.-27C>T) c.304C>T (p.Arg102Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53952060G>C | CA389785442 | BMP4 | c.163C>G (p.Arg55Gly) c.88C>G (p.Arg30Gly) c.-27C>G (n.-27C>G) c.304C>G (p.Arg102Gly) | |
14 | g.53952060G= | CA2137819358 | BMP4 | c.163C= (p.Arg55=) c.88C= (p.Arg30=) c.-27C= (n.-27C=) c.304C= (p.Arg102=) | |
14 | g.53952060G>T | CA486658846 | BMP4 | c.163C>A (p.Arg55=) c.88C>A (p.Arg30=) c.-27C>A (n.-27C>A) c.304C>A (p.Arg102=) | |
14 | g.53952061C>A | CA486658847 | BMP4 | c.162G>T (p.Leu54=) c.87G>T (p.Leu29=) c.-28G>T (n.-28G>T) c.303G>T (p.Leu101=) | gnomAD v4 |
14 | g.53952061C= | CA2137819360 | BMP4 | c.162G= (p.Leu54=) c.87G= (p.Leu29=) c.-28G= (n.-28G=) c.303G= (p.Leu101=) | |
14 | g.53952061C>G | CA486658848 | BMP4 | c.162G>C (p.Leu54=) c.87G>C (p.Leu29=) c.-28G>C (n.-28G>C) c.303G>C (p.Leu101=) | |
14 | g.53952061C>T | CA486658849 | BMP4 | c.162G>A (p.Leu54=) c.87G>A (p.Leu29=) c.-28G>A (n.-28G>A) c.303G>A (p.Leu101=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.53952062A>C | CA389785443 | BMP4 | c.161T>G (p.Leu54Arg) c.86T>G (p.Leu29Arg) c.-29T>G (n.-29T>G) c.302T>G (p.Leu101Arg) | |
14 | g.53952062A>G | CA389785444 | BMP4 | c.161T>C (p.Leu54Pro) c.86T>C (p.Leu29Pro) c.-29T>C (n.-29T>C) c.302T>C (p.Leu101Pro) | |
14 | g.53952062A>T | CA389785445 | BMP4 | c.161T>A (p.Leu54Gln) c.86T>A (p.Leu29Gln) c.-29T>A (n.-29T>A) c.302T>A (p.Leu101Gln) | gnomAD v4 |
14 | g.53952063G>A | CA486658850 | BMP4 | c.160C>T (p.Leu54=) c.85C>T (p.Leu29=) c.-30C>T (n.-30C>T) c.301C>T (p.Leu101=) | dbSNP |
14 | g.53952063G>C | CA389785446 | BMP4 | c.160C>G (p.Leu54Val) c.85C>G (p.Leu29Val) c.-30C>G (n.-30C>G) c.301C>G (p.Leu101Val) | |
14 | g.53952063G>T | CA389785447 | BMP4 | c.160C>A (p.Leu54Met) c.85C>A (p.Leu29Met) c.-30C>A (n.-30C>A) c.301C>A (p.Leu101Met) | |
14 | g.53952064G>A | CA486658853 | BMP4 | c.159C>T (p.Leu53=) c.84C>T (p.Leu28=) c.-31C>T (n.-31C>T) c.300C>T (p.Leu100=) | ClinVar dbSNP gnomAD v4 |
14 | g.53952064G>C | CA486658855 | BMP4 | c.159C>G (p.Leu53=) c.84C>G (p.Leu28=) c.-31C>G (n.-31C>G) c.300C>G (p.Leu100=) | gnomAD v4 |
14 | g.53952064G= | CA2137819362 | BMP4 | c.159C= (p.Leu53=) c.84C= (p.Leu28=) c.-31C= (n.-31C=) c.300C= (p.Leu100=) | |
14 | g.53952064G>T | CA486658857 | BMP4 | c.159C>A (p.Leu53=) c.84C>A (p.Leu28=) c.-31C>A (n.-31C>A) c.300C>A (p.Leu100=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.53952065A= | CA2137819366 | BMP4 | c.158T= (p.Leu53=) c.83T= (p.Leu28=) c.-32T= (n.-32T=) c.299T= (p.Leu100=) | |
14 | g.53952065A>C | CA389785448 | BMP4 | c.158T>G (p.Leu53Arg) c.83T>G (p.Leu28Arg) c.-32T>G (n.-32T>G) c.299T>G (p.Leu100Arg) | |
14 | g.53952065A>G | CA389785449 | BMP4 | c.158T>C (p.Leu53Pro) c.83T>C (p.Leu28Pro) c.-32T>C (n.-32T>C) c.299T>C (p.Leu100Pro) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.53952065A>T | CA389785450 | BMP4 | c.158T>A (p.Leu53His) c.83T>A (p.Leu28His) c.-32T>A (n.-32T>A) c.299T>A (p.Leu100His) | |
14 | g.53952066G>A | CA389785451 | BMP4 | c.157C>T (p.Leu53Phe) c.82C>T (p.Leu28Phe) c.-33C>T (n.-33C>T) c.298C>T (p.Leu100Phe) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.53952066G>C | CA389785453 | BMP4 | c.157C>G (p.Leu53Val) c.82C>G (p.Leu28Val) c.-33C>G (n.-33C>G) c.298C>G (p.Leu100Val) | |
14 | g.53952066G= | CA2137819368 | BMP4 | c.157C= (p.Leu53=) c.82C= (p.Leu28=) c.-33C= (n.-33C=) c.298C= (p.Leu100=) | |
14 | g.53952066G>T | CA389785452 | BMP4 | c.157C>A (p.Leu53Ile) c.82C>A (p.Leu28Ile) c.-33C>A (n.-33C>A) c.298C>A (p.Leu100Ile) | |
14 | g.53952067C>A | CA389785454 | BMP4 | c.156G>T (p.Glu52Asp) c.81G>T (p.Glu27Asp) c.-34G>T (n.-34G>T) c.297G>T (p.Glu99Asp) | |
14 | g.53952067C>G | CA389785455 | BMP4 | c.156G>C (p.Glu52Asp) c.81G>C (p.Glu27Asp) c.-34G>C (n.-34G>C) c.297G>C (p.Glu99Asp) | |
14 | g.53952067C>T | CA486658858 | BMP4 | c.156G>A (p.Glu52=) c.81G>A (p.Glu27=) c.-34G>A (n.-34G>A) c.297G>A (p.Glu99=) | |
14 | g.53952068T>A | CA389785456 | BMP4 | c.155A>T (p.Glu52Val) c.80A>T (p.Glu27Val) c.-35A>T (n.-35A>T) c.296A>T (p.Glu99Val) | |
14 | g.53952068T>C | CA389785457 | BMP4 | c.155A>G (p.Glu52Gly) c.80A>G (p.Glu27Gly) c.-35A>G (n.-35A>G) c.296A>G (p.Glu99Gly) | |
14 | g.53952068T>G | CA389785458 | BMP4 | c.155A>C (p.Glu52Ala) c.80A>C (p.Glu27Ala) c.-35A>C (n.-35A>C) c.296A>C (p.Glu99Ala) | |
14 | g.53952069C>A | CA389785459 | BMP4 | c.154G>T (p.Glu52Ter) c.79G>T (p.Glu27Ter) c.-36G>T (n.-36G>T) c.295G>T (p.Glu99Ter) | |
14 | g.53952069C>G | CA389785460 | BMP4 | c.154G>C (p.Glu52Gln) c.79G>C (p.Glu27Gln) c.-36G>C (n.-36G>C) c.295G>C (p.Glu99Gln) | |
14 | g.53952069C>T | CA389785461 | BMP4 | c.154G>A (p.Glu52Lys) c.79G>A (p.Glu27Lys) c.-36G>A (n.-36G>A) c.295G>A (p.Glu99Lys) | |
14 | g.53952070A= | CA2137819370 | BMP4 | c.153T= (p.His51=) c.78T= (p.His26=) c.-37T= (n.-37T=) c.294T= (p.His98=) | |
14 | g.53952070A>C | CA261472787 | BMP4 | c.153T>G (p.His51Gln) c.78T>G (p.His26Gln) c.-37T>G (n.-37T>G) c.294T>G (p.His98Gln) | ClinVar dbSNP gnomAD v4 |
14 | g.53952070A>G | CA486658860 | BMP4 | c.153T>C (p.His51=) c.78T>C (p.His26=) c.-37T>C (n.-37T>C) c.294T>C (p.His98=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.53952070A>T | CA389785462 | BMP4 | c.153T>A (p.His51Gln) c.78T>A (p.His26Gln) c.-37T>A (n.-37T>A) c.294T>A (p.His98Gln) | |
14 | g.53952071T>A | CA389785464 | BMP4 | c.152A>T (p.His51Leu) c.77A>T (p.His26Leu) c.-38A>T (n.-38A>T) c.293A>T (p.His98Leu) | |
14 | g.53952071T>C | CA389785465 | BMP4 | c.152A>G (p.His51Arg) c.77A>G (p.His26Arg) c.-38A>G (n.-38A>G) c.293A>G (p.His98Arg) | gnomAD v4 |
14 | g.53952071T>G | CA389785463 | BMP4 | c.152A>C (p.His51Pro) c.77A>C (p.His26Pro) c.-38A>C (n.-38A>C) c.293A>C (p.His98Pro) | |
14 | g.53952072G>A | CA389785466 | BMP4 | c.151C>T (p.His51Tyr) c.76C>T (p.His26Tyr) c.-39C>T (n.-39C>T) c.292C>T (p.His98Tyr) | |
14 | g.53952072G>C | CA389785467 | BMP4 | c.151C>G (p.His51Asp) c.76C>G (p.His26Asp) c.-39C>G (n.-39C>G) c.292C>G (p.His98Asp) | |
14 | g.53952072G>T | CA389785468 | BMP4 | c.151C>A (p.His51Asn) c.76C>A (p.His26Asn) c.-39C>A (n.-39C>A) c.292C>A (p.His98Asn) | |
14 | g.53952073G>A | CA486658864 | BMP4 | c.150C>T (p.Ser50=) c.75C>T (p.Ser25=) c.-40C>T (n.-40C>T) c.291C>T (p.Ser97=) | dbSNP |
14 | g.53952073G>C | CA389785469 | BMP4 | c.150C>G (p.Ser50Arg) c.75C>G (p.Ser25Arg) c.-40C>G (n.-40C>G) c.291C>G (p.Ser97Arg) | |
14 | g.53952073G= | CA2137819375 | BMP4 | c.150C= (p.Ser50=) c.75C= (p.Ser25=) c.-40C= (n.-40C=) c.291C= (p.Ser97=) | |
14 | g.53952073G>T | CA389785470 | BMP4 | c.150C>A (p.Ser50Arg) c.75C>A (p.Ser25Arg) c.-40C>A (n.-40C>A) c.291C>A (p.Ser97Arg) | |
14 | g.53952074C>A | CA389785473 | BMP4 | c.149G>T (p.Ser50Ile) c.74G>T (p.Ser25Ile) c.-41G>T (n.-41G>T) c.290G>T (p.Ser97Ile) | |
14 | g.53952074C>G | CA389785471 | BMP4 | c.149G>C (p.Ser50Thr) c.74G>C (p.Ser25Thr) c.-41G>C (n.-41G>C) c.290G>C (p.Ser97Thr) | |
14 | g.53952074C>T | CA389785472 | BMP4 | c.149G>A (p.Ser50Asn) c.74G>A (p.Ser25Asn) c.-41G>A (n.-41G>A) c.290G>A (p.Ser97Asn) | |
14 | g.53952075T>A | CA389785474 | BMP4 | c.148A>T (p.Ser50Cys) c.73A>T (p.Ser25Cys) c.-42A>T (n.-42A>T) c.289A>T (p.Ser97Cys) | gnomAD v4 |
14 | g.53952075T>C | CA389785475 | BMP4 | c.148A>G (p.Ser50Gly) c.73A>G (p.Ser25Gly) c.-42A>G (n.-42A>G) c.289A>G (p.Ser97Gly) | gnomAD v4 |
14 | g.53952075T>G | CA389785476 | BMP4 | c.148A>C (p.Ser50Arg) c.73A>C (p.Ser25Arg) c.-42A>C (n.-42A>C) c.289A>C (p.Ser97Arg) | |
14 | g.53952076C>A | CA389785477 | BMP4 | c.147G>T (p.Gln49His) c.72G>T (p.Gln24His) c.-43G>T (n.-43G>T) c.288G>T (p.Gln96His) | |
14 | g.53952076C>G | CA389785478 | BMP4 | c.147G>C (p.Gln49His) c.72G>C (p.Gln24His) c.-43G>C (n.-43G>C) c.288G>C (p.Gln96His) | |
14 | g.53952076C>T | CA486658871 | BMP4 | c.147G>A (p.Gln49=) c.72G>A (p.Gln24=) c.-43G>A (n.-43G>A) c.288G>A (p.Gln96=) | |
14 | g.53952077T>A | CA389785479 | BMP4 | c.146A>T (p.Gln49Leu) c.71A>T (p.Gln24Leu) c.-44A>T (n.-44A>T) c.287A>T (p.Gln96Leu) | |
14 | g.53952077T>C | CA389785481 | BMP4 | c.146A>G (p.Gln49Arg) c.71A>G (p.Gln24Arg) c.-44A>G (n.-44A>G) c.287A>G (p.Gln96Arg) | |
14 | g.53952077T>G | CA389785480 | BMP4 | c.146A>C (p.Gln49Pro) c.71A>C (p.Gln24Pro) c.-44A>C (n.-44A>C) c.287A>C (p.Gln96Pro) | |
14 | g.53952078G>A | CA389785482 | BMP4 | c.145C>T (p.Gln49Ter) c.70C>T (p.Gln24Ter) c.-45C>T (n.-45C>T) c.286C>T (p.Gln96Ter) | |
14 | g.53952078G>C | CA389785483 | BMP4 | c.145C>G (p.Gln49Glu) c.70C>G (p.Gln24Glu) c.-45C>G (n.-45C>G) c.286C>G (p.Gln96Glu) | |
14 | g.53952078G>T | CA389785484 | BMP4 | c.145C>A (p.Gln49Lys) c.70C>A (p.Gln24Lys) c.-45C>A (n.-45C>A) c.286C>A (p.Gln96Lys) | |
14 | g.53952079C>A | CA486658872 | BMP4 | c.144G>T (p.Gly48=) c.69G>T (p.Gly23=) c.-46G>T (n.-46G>T) c.285G>T (p.Gly95=) | |
14 | g.53952079C= | CA2137819378 | BMP4 | c.144G= (p.Gly48=) c.69G= (p.Gly23=) c.-46G= (n.-46G=) c.285G= (p.Gly95=) | |
14 | g.53952079C>G | CA486658876 | BMP4 | c.144G>C (p.Gly48=) c.69G>C (p.Gly23=) c.-46G>C (n.-46G>C) c.285G>C (p.Gly95=) | |
14 | g.53952079C>T | CA486658874 | BMP4 | c.144G>A (p.Gly48=) c.69G>A (p.Gly23=) c.-46G>A (n.-46G>A) c.285G>A (p.Gly95=) | dbSNP gnomAD v2 |
14 | g.53952080C>A | CA389785485 | BMP4 | c.143G>T (p.Gly48Val) c.68G>T (p.Gly23Val) c.-47G>T (n.-47G>T) c.284G>T (p.Gly95Val) | |
14 | g.53952080C>G | CA389785486 | BMP4 | c.143G>C (p.Gly48Ala) c.68G>C (p.Gly23Ala) c.-47G>C (n.-47G>C) c.284G>C (p.Gly95Ala) | |
14 | g.53952080C>T | CA389785487 | BMP4 | c.143G>A (p.Gly48Glu) c.68G>A (p.Gly23Glu) c.-47G>A (n.-47G>A) c.284G>A (p.Gly95Glu) | |
14 | g.53952081C>A | CA389785488 | BMP4 | c.142G>T (p.Gly48Trp) c.67G>T (p.Gly23Trp) c.-48G>T (n.-48G>T) c.283G>T (p.Gly95Trp) | |
14 | g.53952081C>G | CA389785489 | BMP4 | c.142G>C (p.Gly48Arg) c.67G>C (p.Gly23Arg) c.-48G>C (n.-48G>C) c.283G>C (p.Gly95Arg) | |
14 | g.53952081C>T | CA389785490 | BMP4 | c.142G>A (p.Gly48Arg) c.67G>A (p.Gly23Arg) c.-48G>A (n.-48G>A) c.283G>A (p.Gly95Arg) | |
14 | g.53952082T>A | CA486658878 | BMP4 | c.141A>T (p.Ser47=) c.66A>T (p.Ser22=) c.-49A>T (n.-49A>T) c.282A>T (p.Ser94=) | |
14 | g.53952082T>C | CA486658879 | BMP4 | c.141A>G (p.Ser47=) c.66A>G (p.Ser22=) c.-49A>G (n.-49A>G) c.282A>G (p.Ser94=) | |
14 | g.53952082T>G | CA486658880 | BMP4 | c.141A>C (p.Ser47=) c.66A>C (p.Ser22=) c.-49A>C (n.-49A>C) c.282A>C (p.Ser94=) | |
14 | g.53952083G>A | CA389785491 | BMP4 | c.140C>T (p.Ser47Leu) c.65C>T (p.Ser22Leu) c.-50C>T (n.-50C>T) c.281C>T (p.Ser94Leu) | dbSNP gnomAD v4 |
14 | g.53952083G>C | CA389785492 | BMP4 | c.140C>G (p.Ser47Ter) c.65C>G (p.Ser22Ter) c.-50C>G (n.-50C>G) c.281C>G (p.Ser94Ter) | |
14 | g.53952083G= | CA2137819379 | BMP4 | c.140C= (p.Ser47=) c.65C= (p.Ser22=) c.-50C= (n.-50C=) c.281C= (p.Ser94=) | |
14 | g.53952083G>T | CA389785493 | BMP4 | c.140C>A (p.Ser47Ter) c.65C>A (p.Ser22Ter) c.-50C>A (n.-50C>A) c.281C>A (p.Ser94Ter) | |
14 | g.53952084A>C | CA389785496 | BMP4 | c.139T>G (p.Ser47Ala) c.64T>G (p.Ser22Ala) c.-51T>G (n.-51T>G) c.280T>G (p.Ser94Ala) | |
14 | g.53952084A>G | CA389785495 | BMP4 | c.139T>C (p.Ser47Pro) c.64T>C (p.Ser22Pro) c.-51T>C (n.-51T>C) c.280T>C (p.Ser94Pro) | |
14 | g.53952084A>T | CA389785494 | BMP4 | c.139T>A (p.Ser47Thr) c.64T>A (p.Ser22Thr) c.-51T>A (n.-51T>A) c.280T>A (p.Ser94Thr) | |
14 | g.53952085G>A | CA486658883 | BMP4 | c.138C>T (p.Arg46=) c.63C>T (p.Arg21=) c.-52C>T (n.-52C>T) c.279C>T (p.Arg93=) | gnomAD v4 |
14 | g.53952085G>C | CA486658885 | BMP4 | c.138C>G (p.Arg46=) c.63C>G (p.Arg21=) c.-52C>G (n.-52C>G) c.279C>G (p.Arg93=) | |
14 | g.53952085G>T | CA486658884 | BMP4 | c.138C>A (p.Arg46=) c.63C>A (p.Arg21=) c.-52C>A (n.-52C>A) c.279C>A (p.Arg93=) | gnomAD v4 |
14 | g.53952086C>A | CA389785498 | BMP4 | c.137G>T (p.Arg46Leu) c.62G>T (p.Arg21Leu) c.-53G>T (n.-53G>T) c.278G>T (p.Arg93Leu) | gnomAD v4 |
14 | g.53952086C= | CA2137819381 | BMP4 | c.137G= (p.Arg46=) c.62G= (p.Arg21=) c.-53G= (n.-53G=) c.278G= (p.Arg93=) | |
14 | g.53952086C>G | CA389785497 | BMP4 | c.137G>C (p.Arg46Pro) c.62G>C (p.Arg21Pro) c.-53G>C (n.-53G>C) c.278G>C (p.Arg93Pro) | |
14 | g.53952086C>T | CA389785499 | BMP4 | c.137G>A (p.Arg46His) c.62G>A (p.Arg21His) c.-53G>A (n.-53G>A) c.278G>A (p.Arg93His) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.53952087G>A | CA389785500 | BMP4 | c.136C>T (p.Arg46Cys) c.61C>T (p.Arg21Cys) c.-54C>T (n.-54C>T) c.277C>T (p.Arg93Cys) | |
14 | g.53952087G>C | CA389785501 | BMP4 | c.136C>G (p.Arg46Gly) c.61C>G (p.Arg21Gly) c.-54C>G (n.-54C>G) c.277C>G (p.Arg93Gly) | |
14 | g.53952087G>T | CA389785502 | BMP4 | c.136C>A (p.Arg46Ser) c.61C>A (p.Arg21Ser) c.-54C>A (n.-54C>A) c.277C>A (p.Arg93Ser) | |
14 | g.53952088G>A | CA486658887 | BMP4 | c.135C>T (p.Arg45=) c.60C>T (p.Arg20=) c.-55C>T (n.-55C>T) c.276C>T (p.Arg92=) | |
14 | g.53952088G>C | CA486658889 | BMP4 | c.135C>G (p.Arg45=) c.60C>G (p.Arg20=) c.-55C>G (n.-55C>G) c.276C>G (p.Arg92=) | |
14 | g.53952088G>T | CA486658891 | BMP4 | c.135C>A (p.Arg45=) c.60C>A (p.Arg20=) c.-55C>A (n.-55C>A) c.276C>A (p.Arg92=) | COSMIC |
14 | g.53952089C>A | CA389785503 | BMP4 | c.134G>T (p.Arg45Leu) c.59G>T (p.Arg20Leu) c.-56G>T (n.-56G>T) c.275G>T (p.Arg92Leu) | |
14 | g.53952089C= | CA2137819384 | BMP4 | c.134G= (p.Arg45=) c.59G= (p.Arg20=) c.-56G= (n.-56G=) c.275G= (p.Arg92=) | |
14 | g.53952089C>G | CA389785504 | BMP4 | c.134G>C (p.Arg45Pro) c.59G>C (p.Arg20Pro) c.-56G>C (n.-56G>C) c.275G>C (p.Arg92Pro) | |
14 | g.53952089C>T | CA389785505 | BMP4 | c.134G>A (p.Arg45His) c.59G>A (p.Arg20His) c.-56G>A (n.-56G>A) c.275G>A (p.Arg92His) | dbSNP gnomAD v4 |
14 | g.53952090G>A | CA389785506 | BMP4 | c.133C>T (p.Arg45Cys) c.58C>T (p.Arg20Cys) c.-57C>T (n.-57C>T) c.274C>T (p.Arg92Cys) | |
14 | g.53952090G>C | CA389785507 | BMP4 | c.133C>G (p.Arg45Gly) c.58C>G (p.Arg20Gly) c.-57C>G (n.-57C>G) c.274C>G (p.Arg92Gly) | |
14 | g.53952090G>T | CA389785508 | BMP4 | c.133C>A (p.Arg45Ser) c.58C>A (p.Arg20Ser) c.-57C>A (n.-57C>A) c.274C>A (p.Arg92Ser) | gnomAD v4 |
14 | g.53952091T>A | CA486658892 | BMP4 | c.132A>T (p.Gly44=) c.57A>T (p.Gly19=) c.-58A>T (n.-58A>T) c.273A>T (p.Gly91=) | |
14 | g.53952091T>C | CA486658893 | BMP4 | c.132A>G (p.Gly44=) c.57A>G (p.Gly19=) c.-58A>G (n.-58A>G) c.273A>G (p.Gly91=) | |
14 | g.53952091T>G | CA486658894 | BMP4 | c.132A>C (p.Gly44=) c.57A>C (p.Gly19=) c.-58A>C (n.-58A>C) c.273A>C (p.Gly91=) | |
14 | g.53952092C>A | CA389785509 | BMP4 | c.131G>T (p.Gly44Val) c.56G>T (p.Gly19Val) c.-59G>T (n.-59G>T) c.272G>T (p.Gly91Val) | |
14 | g.53952092C= | CA2137819387 | BMP4 | c.131G= (p.Gly44=) c.56G= (p.Gly19=) c.-59G= (n.-59G=) c.272G= (p.Gly91=) | |
14 | g.53952092C>G | CA389785510 | BMP4 | c.131G>C (p.Gly44Ala) c.56G>C (p.Gly19Ala) c.-59G>C (n.-59G>C) c.272G>C (p.Gly91Ala) | |
14 | g.53952092C>T | CA389785511 | BMP4 | c.131G>A (p.Gly44Glu) c.56G>A (p.Gly19Glu) c.-59G>A (n.-59G>A) c.272G>A (p.Gly91Glu) | dbSNP |
14 | g.53952093C>A | CA389785514 | BMP4 | c.130G>T (p.Gly44Ter) c.55G>T (p.Gly19Ter) c.-60G>T (n.-60G>T) c.271G>T (p.Gly91Ter) | |
14 | g.53952093C>G | CA389785512 | BMP4 | c.130G>C (p.Gly44Arg) c.55G>C (p.Gly19Arg) c.-60G>C (n.-60G>C) c.271G>C (p.Gly91Arg) | |
14 | g.53952093C>T | CA389785513 | BMP4 | c.130G>A (p.Gly44Arg) c.55G>A (p.Gly19Arg) c.-60G>A (n.-60G>A) c.271G>A (p.Gly91Arg) | gnomAD v4 |
14 | g.53952094T>A | CA486658898 | BMP4 | c.129A>T (p.Gly43=) c.54A>T (p.Gly18=) c.-61A>T (n.-61A>T) c.270A>T (p.Gly90=) | |
14 | g.53952094T>C | CA486658896 | BMP4 | c.129A>G (p.Gly43=) c.54A>G (p.Gly18=) c.-61A>G (n.-61A>G) c.270A>G (p.Gly90=) | |
14 | g.53952094T>G | CA486658897 | BMP4 | c.129A>C (p.Gly43=) c.54A>C (p.Gly18=) c.-61A>C (n.-61A>C) c.270A>C (p.Gly90=) | |
14 | g.53952095C>A | CA389785515 | BMP4 | c.128G>T (p.Gly43Val) c.53G>T (p.Gly18Val) c.-62G>T (n.-62G>T) c.269G>T (p.Gly90Val) | |
14 | g.53952095C= | CA2137819392 | BMP4 | c.128G= (p.Gly43=) c.53G= (p.Gly18=) c.-62G= (n.-62G=) c.269G= (p.Gly90=) | |
14 | g.53952095C>G | CA389785516 | BMP4 | c.128G>C (p.Gly43Ala) c.53G>C (p.Gly18Ala) c.-62G>C (n.-62G>C) c.269G>C (p.Gly90Ala) | gnomAD v4 |
14 | g.53952095C>T | CA389785517 | BMP4 | c.128G>A (p.Gly43Glu) c.53G>A (p.Gly18Glu) c.-62G>A (n.-62G>A) c.269G>A (p.Gly90Glu) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.53952096C>A | CA389785518 | BMP4 | c.127G>T (p.Gly43Ter) c.52G>T (p.Gly18Ter) c.-63G>T (n.-63G>T) c.268G>T (p.Gly90Ter) | |
14 | g.53952096C>G | CA389785519 | BMP4 | c.127G>C (p.Gly43Arg) c.52G>C (p.Gly18Arg) c.-63G>C (n.-63G>C) c.268G>C (p.Gly90Arg) | |
14 | g.53952096C>T | CA389785520 | BMP4 | c.127G>A (p.Gly43Arg) c.52G>A (p.Gly18Arg) c.-63G>A (n.-63G>A) c.268G>A (p.Gly90Arg) | |
14 | g.53952097C>A | CA486658899 | BMP4 | c.126G>T (p.Ala42=) c.51G>T (p.Ala17=) c.-64G>T (n.-64G>T) c.267G>T (p.Ala89=) | dbSNP |
14 | g.53952097C= | CA2137819395 | BMP4 | c.126G= (p.Ala42=) c.51G= (p.Ala17=) c.-64G= (n.-64G=) c.267G= (p.Ala89=) | |
14 | g.53952097C>G | CA486658900 | BMP4 | c.126G>C (p.Ala42=) c.51G>C (p.Ala17=) c.-64G>C (n.-64G>C) c.267G>C (p.Ala89=) | |
14 | g.53952097C>T | CA486658901 | BMP4 | c.126G>A (p.Ala42=) c.51G>A (p.Ala17=) c.-64G>A (n.-64G>A) c.267G>A (p.Ala89=) | |
14 | g.53952098G>A | CA389785521 | BMP4 | c.125C>T (p.Ala42Val) c.50C>T (p.Ala17Val) c.-65C>T (n.-65C>T) c.266C>T (p.Ala89Val) | |
14 | g.53952098G>C | CA389785522 | BMP4 | c.125C>G (p.Ala42Gly) c.50C>G (p.Ala17Gly) c.-65C>G (n.-65C>G) c.266C>G (p.Ala89Gly) | |
14 | g.53952098G= | CA2137819397 | BMP4 | c.125C= (p.Ala42=) c.50C= (p.Ala17=) c.-65C= (n.-65C=) c.266C= (p.Ala89=) | |
14 | g.53952098G>T | CA389785523 | BMP4 | c.125C>A (p.Ala42Glu) c.50C>A (p.Ala17Glu) c.-65C>A (n.-65C>A) c.266C>A (p.Ala89Glu) | dbSNP gnomAD v4 |
14 | g.53952099C>A | CA389785524 | BMP4 | c.124G>T (p.Ala42Ser) c.49G>T (p.Ala17Ser) c.-66G>T (n.-66G>T) c.265G>T (p.Ala89Ser) | dbSNP gnomAD v4 |
14 | g.53952099C= | CA2137819400 | BMP4 | c.124G= (p.Ala42=) c.49G= (p.Ala17=) c.-66G= (n.-66G=) c.265G= (p.Ala89=) | |
14 | g.53952099C>G | CA7191822 | BMP4 | c.124G>C (p.Ala42Pro) c.49G>C (p.Ala17Pro) c.-66G>C (n.-66G>C) c.265G>C (p.Ala89Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53952099C>T | CA389785525 | BMP4 | c.124G>A (p.Ala42Thr) c.49G>A (p.Ala17Thr) c.-66G>A (n.-66G>A) c.265G>A (p.Ala89Thr) | gnomAD v4 |
14 | g.53952100G>A | CA261472788 | BMP4 | c.123C>T (p.His41=) c.48C>T (p.His16=) c.-67C>T (n.-67C>T) c.264C>T (p.His88=) | ClinVar dbSNP gnomAD v4 |
14 | g.53952100G>C | CA7191823 | BMP4 | c.123C>G (p.His41Gln) c.48C>G (p.His16Gln) c.-67C>G (n.-67C>G) c.264C>G (p.His88Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53952100G= | CA2137819405 | BMP4 | c.123C= (p.His41=) c.48C= (p.His16=) c.-67C= (n.-67C=) c.264C= (p.His88=) | |
14 | g.53952100G>T | CA389785526 | BMP4 | c.123C>A (p.His41Gln) c.48C>A (p.His16Gln) c.-67C>A (n.-67C>A) c.264C>A (p.His88Gln) | |
14 | g.53952101T>A | CA389785527 | BMP4 | c.122A>T (p.His41Leu) c.47A>T (p.His16Leu) c.-68A>T (n.-68A>T) c.263A>T (p.His88Leu) | |
14 | g.53952101T>C | CA389785528 | BMP4 | c.122A>G (p.His41Arg) c.47A>G (p.His16Arg) c.-68A>G (n.-68A>G) c.263A>G (p.His88Arg) | |
14 | g.53952101T>G | CA389785529 | BMP4 | c.122A>C (p.His41Pro) c.47A>C (p.His16Pro) c.-68A>C (n.-68A>C) c.263A>C (p.His88Pro) | |
14 | g.53952102G>A | CA389785530 | BMP4 | c.121C>T (p.His41Tyr) c.46C>T (p.His16Tyr) c.-69C>T (n.-69C>T) c.262C>T (p.His88Tyr) | dbSNP |
14 | g.53952102G>C | CA389785531 | BMP4 | c.121C>G (p.His41Asp) c.46C>G (p.His16Asp) c.-69C>G (n.-69C>G) c.262C>G (p.His88Asp) | |
14 | g.53952102G= | CA2137819409 | BMP4 | c.121C= (p.His41=) c.46C= (p.His16=) c.-69C= (n.-69C=) c.262C= (p.His88=) | |
14 | g.53952102G>T | CA389785532 | BMP4 | c.121C>A (p.His41Asn) c.46C>A (p.His16Asn) c.-69C>A (n.-69C>A) c.262C>A (p.His88Asn) | |
14 | g.53952103G>A | CA486658905 | BMP4 | c.120C>T (p.Gly40=) c.45C>T (p.Gly15=) c.-70C>T (n.-70C>T) c.261C>T (p.Gly87=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.53952103G>C | CA486658906 | BMP4 | c.120C>G (p.Gly40=) c.45C>G (p.Gly15=) c.-70C>G (n.-70C>G) c.261C>G (p.Gly87=) | |
14 | g.53952103G= | CA2137819411 | BMP4 | c.120C= (p.Gly40=) c.45C= (p.Gly15=) c.-70C= (n.-70C=) c.261C= (p.Gly87=) | |
14 | g.53952103G>T | CA486658907 | BMP4 | c.120C>A (p.Gly40=) c.45C>A (p.Gly15=) c.-70C>A (n.-70C>A) c.261C>A (p.Gly87=) | |
14 | g.53952104C>A | CA389785534 | BMP4 | c.119G>T (p.Gly40Val) c.44G>T (p.Gly15Val) c.-71G>T (n.-71G>T) c.260G>T (p.Gly87Val) | |
14 | g.53952104C= | CA2137819413 | BMP4 | c.119G= (p.Gly40=) c.44G= (p.Gly15=) c.-71G= (n.-71G=) c.260G= (p.Gly87=) | |
14 | g.53952104C>G | CA389785533 | BMP4 | c.119G>C (p.Gly40Ala) c.44G>C (p.Gly15Ala) c.-71G>C (n.-71G>C) c.260G>C (p.Gly87Ala) | |
14 | g.53952104C>T | CA7191824 | BMP4 | c.119G>A (p.Gly40Asp) c.44G>A (p.Gly15Asp) c.-71G>A (n.-71G>A) c.260G>A (p.Gly87Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53952105C>A | CA389785535 | BMP4 | c.118G>T (p.Gly40Cys) c.43G>T (p.Gly15Cys) c.-72G>T (n.-72G>T) c.259G>T (p.Gly87Cys) | |
14 | g.53952105C= | CA2137819416 | BMP4 | c.118G= (p.Gly40=) c.43G= (p.Gly15=) c.-72G= (n.-72G=) c.259G= (p.Gly87=) | |
14 | g.53952105C>G | CA389785536 | BMP4 | c.118G>C (p.Gly40Arg) c.43G>C (p.Gly15Arg) c.-72G>C (n.-72G>C) c.259G>C (p.Gly87Arg) | |
14 | g.53952105C>T | CA7191825 | BMP4 | c.118G>A (p.Gly40Ser) c.43G>A (p.Gly15Ser) c.-72G>A (n.-72G>A) c.259G>A (p.Gly87Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53952106C>A | CA389785537 | BMP4 | c.117G>T (p.Gln39His) c.42G>T (p.Gln14His) c.-73G>T (n.-73G>T) c.258G>T (p.Gln86His) | |
14 | g.53952106C>G | CA389785538 | BMP4 | c.117G>C (p.Gln39His) c.42G>C (p.Gln14His) c.-73G>C (n.-73G>C) c.258G>C (p.Gln86His) | |
14 | g.53952106C>T | CA486658908 | BMP4 | c.117G>A (p.Gln39=) c.42G>A (p.Gln14=) c.-73G>A (n.-73G>A) c.258G>A (p.Gln86=) | |
14 | g.53952107T>A | CA389785539 | BMP4 | c.116A>T (p.Gln39Leu) c.41A>T (p.Gln14Leu) c.-74A>T (n.-74A>T) c.257A>T (p.Gln86Leu) | |
14 | g.53952107T>C | CA389785541 | BMP4 | c.116A>G (p.Gln39Arg) c.41A>G (p.Gln14Arg) c.-74A>G (n.-74A>G) c.257A>G (p.Gln86Arg) | |
14 | g.53952107T>G | CA389785540 | BMP4 | c.116A>C (p.Gln39Pro) c.41A>C (p.Gln14Pro) c.-74A>C (n.-74A>C) c.257A>C (p.Gln86Pro) | |
14 | g.53952108G>A | CA389785542 | BMP4 | c.115C>T (p.Gln39Ter) c.40C>T (p.Gln14Ter) c.-75C>T (n.-75C>T) c.256C>T (p.Gln86Ter) | COSMIC |
14 | g.53952108G>C | CA389785543 | BMP4 | c.115C>G (p.Gln39Glu) c.40C>G (p.Gln14Glu) c.-75C>G (n.-75C>G) c.256C>G (p.Gln86Glu) | |
14 | g.53952108G>T | CA389785544 | BMP4 | c.115C>A (p.Gln39Lys) c.40C>A (p.Gln14Lys) c.-75C>A (n.-75C>A) c.256C>A (p.Gln86Lys) | gnomAD v4 |
14 | g.53952109A>C | CA389785545 | BMP4 | c.114T>G (p.Ile38Met) c.39T>G (p.Ile13Met) c.-76T>G (n.-76T>G) c.255T>G (p.Ile85Met) | gnomAD v4 |
14 | g.53952109A>G | CA486658911 | BMP4 | c.114T>C (p.Ile38=) c.39T>C (p.Ile13=) c.-76T>C (n.-76T>C) c.255T>C (p.Ile85=) | |
14 | g.53952109A>T | CA486658912 | BMP4 | c.114T>A (p.Ile38=) c.39T>A (p.Ile13=) c.-76T>A (n.-76T>A) c.255T>A (p.Ile85=) | |
14 | g.53952110A= | CA2137819419 | BMP4 | c.113T= (p.Ile38=) c.38T= (p.Ile13=) c.-77T= (n.-77T=) c.254T= (p.Ile85=) | |
14 | g.53952110A>C | CA389785546 | BMP4 | c.113T>G (p.Ile38Ser) c.38T>G (p.Ile13Ser) c.-77T>G (n.-77T>G) c.254T>G (p.Ile85Ser) | |
14 | g.53952110A>G | CA389785547 | BMP4 | c.113T>C (p.Ile38Thr) c.38T>C (p.Ile13Thr) c.-77T>C (n.-77T>C) c.254T>C (p.Ile85Thr) | dbSNP |
14 | g.53952110A>T | CA389785548 | BMP4 | c.113T>A (p.Ile38Asn) c.38T>A (p.Ile13Asn) c.-77T>A (n.-77T>A) c.254T>A (p.Ile85Asn) | |
14 | g.53952111T>A | CA389785549 | BMP4 | c.112A>T (p.Ile38Phe) c.37A>T (p.Ile13Phe) c.-78A>T (n.-78A>T) c.253A>T (p.Ile85Phe) | |
14 | g.53952111T>C | CA389785550 | BMP4 | c.112A>G (p.Ile38Val) c.37A>G (p.Ile13Val) c.-78A>G (n.-78A>G) c.253A>G (p.Ile85Val) | |
14 | g.53952111T>G | CA389785551 | BMP4 | c.112A>C (p.Ile38Leu) c.37A>C (p.Ile13Leu) c.-78A>C (n.-78A>C) c.253A>C (p.Ile85Leu) | |
14 | g.53952112C>A | CA389785552 | BMP4 | c.111G>T (p.Glu37Asp) c.36G>T (p.Glu12Asp) c.-79G>T (n.-79G>T) c.252G>T (p.Glu84Asp) | |
14 | g.53952112C= | CA2137819422 | BMP4 | c.111G= (p.Glu37=) c.36G= (p.Glu12=) c.-79G= (n.-79G=) c.252G= (p.Glu84=) | |
14 | g.53952112C>G | CA7191826 | BMP4 | c.111G>C (p.Glu37Asp) c.36G>C (p.Glu12Asp) c.-79G>C (n.-79G>C) c.252G>C (p.Glu84Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53952112C>T | CA486658913 | BMP4 | c.111G>A (p.Glu37=) c.36G>A (p.Glu12=) c.-79G>A (n.-79G>A) c.252G>A (p.Glu84=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.53952113T>A | CA389785554 | BMP4 | c.110A>T (p.Glu37Val) c.35A>T (p.Glu12Val) c.-80A>T (n.-80A>T) c.251A>T (p.Glu84Val) | |
14 | g.53952113T>C | CA7191827 | BMP4 | c.110A>G (p.Glu37Gly) c.35A>G (p.Glu12Gly) c.-80A>G (n.-80A>G) c.251A>G (p.Glu84Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.53952113T>G | CA389785553 | BMP4 | c.110A>C (p.Glu37Ala) c.35A>C (p.Glu12Ala) c.-80A>C (n.-80A>C) c.251A>C (p.Glu84Ala) | |
14 | g.53952113T= | CA2137819427 | BMP4 | c.110A= (p.Glu37=) c.35A= (p.Glu12=) c.-80A= (n.-80A=) c.251A= (p.Glu84=) | |
14 | g.53952114C>A | CA389785555 | BMP4 | c.109G>T (p.Glu37Ter) c.34G>T (p.Glu12Ter) c.-81G>T (n.-81G>T) c.250G>T (p.Glu84Ter) | |
14 | g.53952114C>G | CA389785557 | BMP4 | c.109G>C (p.Glu37Gln) c.34G>C (p.Glu12Gln) c.-81G>C (n.-81G>C) c.250G>C (p.Glu84Gln) | |
14 | g.53952114C>T | CA389785556 | BMP4 | c.109G>A (p.Glu37Lys) c.34G>A (p.Glu12Lys) c.-81G>A (n.-81G>A) c.250G>A (p.Glu84Lys) | |
14 | g.53952115G>A | CA7191828 | BMP4 | c.108C>T (p.Ala36=) c.33C>T (p.Ala11=) c.-82C>T (n.-82C>T) c.249C>T (p.Ala83=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53952115G>C | CA7191829 | BMP4 | c.108C>G (p.Ala36=) c.33C>G (p.Ala11=) c.-82C>G (n.-82C>G) c.249C>G (p.Ala83=) | dbSNP ExAC gnomAD v2 |
14 | g.53952115G= | CA2137819432 | BMP4 | c.108C= (p.Ala36=) c.33C= (p.Ala11=) c.-82C= (n.-82C=) c.249C= (p.Ala83=) | |
14 | g.53952115G>T | CA486658916 | BMP4 | c.108C>A (p.Ala36=) c.33C>A (p.Ala11=) c.-82C>A (n.-82C>A) c.249C>A (p.Ala83=) | |
14 | g.53952116G>A | CA389785558 | BMP4 | c.107C>T (p.Ala36Val) c.32C>T (p.Ala11Val) c.-83C>T (n.-83C>T) c.248C>T (p.Ala83Val) | |
14 | g.53952116G>C | CA389785560 | BMP4 | c.107C>G (p.Ala36Gly) c.32C>G (p.Ala11Gly) c.-83C>G (n.-83C>G) c.248C>G (p.Ala83Gly) | |
14 | g.53952116G>T | CA389785559 | BMP4 | c.107C>A (p.Ala36Asp) c.32C>A (p.Ala11Asp) c.-83C>A (n.-83C>A) c.248C>A (p.Ala83Asp) | |
14 | g.53952117C>A | CA7191831 | BMP4 | c.106G>T (p.Ala36Ser) c.31G>T (p.Ala11Ser) c.-84G>T (n.-84G>T) c.247G>T (p.Ala83Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.53952117C= | CA2137819437 | BMP4 | c.106G= (p.Ala36=) c.31G= (p.Ala11=) c.-84G= (n.-84G=) c.247G= (p.Ala83=) | |
14 | g.53952117C>G | CA389785561 | BMP4 | c.106G>C (p.Ala36Pro) c.31G>C (p.Ala11Pro) c.-84G>C (n.-84G>C) c.247G>C (p.Ala83Pro) | |
14 | g.53952117C>T | CA7191830 | BMP4 | c.106G>A (p.Ala36Thr) c.31G>A (p.Ala11Thr) c.-84G>A (n.-84G>A) c.247G>A (p.Ala83Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
14 | g.53952117_53952118insCCT | CA7191832 | BMP4 | c.105_106insAGG (p.Val35_Ala36insArg) c.30_31insAGG (p.Val10_Ala11insArg) c.-85_-84insAGG (n.-85_-84insAGG) c.246_247insAGG (p.Val82_Ala83insArg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53952118G>A | CA486658918 | BMP4 | c.105C>T (p.Val35=) c.30C>T (p.Val10=) c.-85C>T (n.-85C>T) c.246C>T (p.Val82=) | gnomAD v4 |
14 | g.53952118G>C | CA486658919 | BMP4 | c.105C>G (p.Val35=) c.30C>G (p.Val10=) c.-85C>G (n.-85C>G) c.246C>G (p.Val82=) | dbSNP gnomAD v4 |
14 | g.53952118G= | CA2137819442 | BMP4 | c.105C= (p.Val35=) c.30C= (p.Val10=) c.-85C= (n.-85C=) c.246C= (p.Val82=) | |
14 | g.53952118G>T | CA486658920 | BMP4 | c.105C>A (p.Val35=) c.30C>A (p.Val10=) c.-85C>A (n.-85C>A) c.246C>A (p.Val82=) | |
14 | g.53952119A= | CA2137819445 | BMP4 | c.104T= (p.Val35=) c.29T= (p.Val10=) c.-86T= (n.-86T=) c.245T= (p.Val82=) | |
14 | g.53952119A>C | CA389785562 | BMP4 | c.104T>G (p.Val35Gly) c.29T>G (p.Val10Gly) c.-86T>G (n.-86T>G) c.245T>G (p.Val82Gly) | |
14 | g.53952119A>G | CA389785563 | BMP4 | c.104T>C (p.Val35Ala) c.29T>C (p.Val10Ala) c.-86T>C (n.-86T>C) c.245T>C (p.Val82Ala) | |
14 | g.53952119A>T | CA389785564 | BMP4 | c.104T>A (p.Val35Asp) c.29T>A (p.Val10Asp) c.-86T>A (n.-86T>A) c.245T>A (p.Val82Asp) | |
14 | g.53952119_53952120insAT | CA7191833 | BMP4 | c.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 |
14 | g.53952120C>A | CA389785565 | BMP4 | c.103G>T (p.Val35Phe) c.28G>T (p.Val10Phe) c.-87G>T (n.-87G>T) c.244G>T (p.Val82Phe) | |
14 | g.53952120C>G | CA389785566 | BMP4 | c.103G>C (p.Val35Leu) c.28G>C (p.Val10Leu) c.-87G>C (n.-87G>C) c.244G>C (p.Val82Leu) | dbSNP |
14 | g.53952120C>T | CA389785567 | BMP4 | c.103G>A (p.Val35Ile) c.28G>A (p.Val10Ile) c.-87G>A (n.-87G>A) c.244G>A (p.Val82Ile) | |
14 | g.53952123_53952129del | CA2624918698 | BMP4 | c.97_103del (p.Lys33SerfsTer?) c.22_28del (p.Lys8SerfsTer?) c.-93_-87del (n.-93_-87del) c.238_244del (p.Lys80SerfsTer?) | gnomAD v4 |
14 | g.53952121T>A | CA389785569 | BMP4 | c.102A>T (p.Lys34Asn) c.27A>T (p.Lys9Asn) c.-88A>T (n.-88A>T) c.243A>T (p.Lys81Asn) | gnomAD v4 |
14 | g.53952121T>C | CA486658921 | BMP4 | c.102A>G (p.Lys34=) c.27A>G (p.Lys9=) c.-88A>G (n.-88A>G) c.243A>G (p.Lys81=) | gnomAD v4 |
14 | g.53952121T>G | CA389785568 | BMP4 | c.102A>C (p.Lys34Asn) c.27A>C (p.Lys9Asn) c.-88A>C (n.-88A>C) c.243A>C (p.Lys81Asn) | |
14 | g.53952126dup | CA645578289 | BMP4 | c.102dup (p.Val35SerfsTer18) c.27dup (p.Val10SerfsTer18) c.-88dup (n.-88dup) c.243dup (p.Val82SerfsTer18) | COSMIC |
14 | g.53952122T>A | CA389785570 | BMP4 | c.101A>T (p.Lys34Ile) c.26A>T (p.Lys9Ile) c.-89A>T (n.-89A>T) c.242A>T (p.Lys81Ile) | dbSNP |
14 | g.53952122T>C | CA389785571 | BMP4 | c.101A>G (p.Lys34Arg) c.26A>G (p.Lys9Arg) c.-89A>G (n.-89A>G) c.242A>G (p.Lys81Arg) | ClinVar |
14 | g.53952122T>G | CA389785572 | BMP4 | c.101A>C (p.Lys34Thr) c.26A>C (p.Lys9Thr) c.-89A>C (n.-89A>C) c.242A>C (p.Lys81Thr) | |
14 | g.53952122T= | CA2137819453 | BMP4 | c.101A= (p.Lys34=) c.26A= (p.Lys9=) c.-89A= (n.-89A=) c.242A= (p.Lys81=) | |
14 | g.53952123T>A | CA389785573 | BMP4 | c.100A>T (p.Lys34Ter) c.25A>T (p.Lys9Ter) c.-90A>T (n.-90A>T) c.241A>T (p.Lys81Ter) | |
14 | g.53952123T>C | CA389785574 | BMP4 | c.100A>G (p.Lys34Glu) c.25A>G (p.Lys9Glu) c.-90A>G (n.-90A>G) c.241A>G (p.Lys81Glu) | |
14 | g.53952123T>G | CA389785575 | BMP4 | c.100A>C (p.Lys34Gln) c.25A>C (p.Lys9Gln) c.-90A>C (n.-90A>C) c.241A>C (p.Lys81Gln) | |
14 | g.53952124T>A | CA389785576 | BMP4 | c.99A>T (p.Lys33Asn) c.24A>T (p.Lys8Asn) c.-91A>T (n.-91A>T) c.240A>T (p.Lys80Asn) | |
14 | g.53952124T>C | CA486658925 | BMP4 | c.99A>G (p.Lys33=) c.24A>G (p.Lys8=) c.-91A>G (n.-91A>G) c.240A>G (p.Lys80=) | |
14 | g.53952124T>G | CA389785577 | BMP4 | c.99A>C (p.Lys33Asn) c.24A>C (p.Lys8Asn) c.-91A>C (n.-91A>C) c.240A>C (p.Lys80Asn) | |
14 | g.53952125T>A | CA389785578 | BMP4 | c.98A>T (p.Lys33Ile) c.23A>T (p.Lys8Ile) c.-92A>T (n.-92A>T) c.239A>T (p.Lys80Ile) | |
14 | g.53952125T>C | CA389785579 | BMP4 | c.98A>G (p.Lys33Arg) c.23A>G (p.Lys8Arg) c.-92A>G (n.-92A>G) c.239A>G (p.Lys80Arg) | gnomAD v4 |
14 | g.53952125T>G | CA389785580 | BMP4 | c.98A>C (p.Lys33Thr) c.23A>C (p.Lys8Thr) c.-92A>C (n.-92A>C) c.239A>C (p.Lys80Thr) | |
14 | g.53952126T>A | CA389785583 | BMP4 | c.97A>T (p.Lys33Ter) c.22A>T (p.Lys8Ter) c.-93A>T (n.-93A>T) c.238A>T (p.Lys80Ter) | |
14 | g.53952126T>C | CA389785582 | BMP4 | c.97A>G (p.Lys33Glu) c.22A>G (p.Lys8Glu) c.-93A>G (n.-93A>G) c.238A>G (p.Lys80Glu) | |
14 | g.53952126T>G | CA389785581 | BMP4 | c.97A>C (p.Lys33Gln) c.22A>C (p.Lys8Gln) c.-93A>C (n.-93A>C) c.238A>C (p.Lys80Gln) | |
14 | g.53952127C>A | CA389785584 | BMP4 | c.96G>T (p.Lys32Asn) c.21G>T (p.Lys7Asn) c.-94G>T (n.-94G>T) c.237G>T (p.Lys79Asn) | |
14 | g.53952127C>G | CA389785585 | BMP4 | c.96G>C (p.Lys32Asn) c.21G>C (p.Lys7Asn) c.-94G>C (n.-94G>C) c.237G>C (p.Lys79Asn) | gnomAD v4 |
14 | g.53952127C>T | CA486658927 | BMP4 | c.96G>A (p.Lys32=) c.21G>A (p.Lys7=) c.-94G>A (n.-94G>A) c.237G>A (p.Lys79=) | |
14 | g.53952128T>A | CA389785586 | BMP4 | c.95A>T (p.Lys32Met) c.20A>T (p.Lys7Met) c.-95A>T (n.-95A>T) c.236A>T (p.Lys79Met) | |
14 | g.53952128T>C | CA389785587 | BMP4 | c.95A>G (p.Lys32Arg) c.20A>G (p.Lys7Arg) c.-95A>G (n.-95A>G) c.236A>G (p.Lys79Arg) | |
14 | g.53952128T>G | CA389785588 | BMP4 | c.95A>C (p.Lys32Thr) c.20A>C (p.Lys7Thr) c.-95A>C (n.-95A>C) c.236A>C (p.Lys79Thr) | |
14 | g.53952128_53952129insAAGAAAAAAG | CA2624918699 | BMP4 | c.94_95insCTTTTTTCTT (p.Lys32ThrfsTer24) c.19_20insCTTTTTTCTT (p.Lys7ThrfsTer24) c.-96_-95insCTTTTTTCTT (n.-96_-95insCTTTTTTCTT) c.235_236insCTTTTTTCTT (p.Lys79ThrfsTer24) | gnomAD v4 |
14 | g.53952129T>A | CA389785589 | BMP4 | c.94A>T (p.Lys32Ter) c.19A>T (p.Lys7Ter) c.-96A>T (n.-96A>T) c.235A>T (p.Lys79Ter) | |
14 | g.53952129T>C | CA389785590 | BMP4 | c.94A>G (p.Lys32Glu) c.19A>G (p.Lys7Glu) c.-96A>G (n.-96A>G) c.235A>G (p.Lys79Glu) | |
14 | g.53952129T>G | CA389785591 | BMP4 | c.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 |
14 | g.53952129T= | CA2137819456 | BMP4 | c.94A= (p.Lys32=) c.19A= (p.Lys7=) c.-96A= (n.-96A=) c.235A= (p.Lys79=) | |
14 | g.53952130C>A | CA486658929 | BMP4 | c.93G>T (p.Gly31=) c.18G>T (p.Gly6=) c.-97G>T (n.-97G>T) c.234G>T (p.Gly78=) | |
14 | g.53952130C= | CA2137819463 | BMP4 | c.93G= (p.Gly31=) c.18G= (p.Gly6=) c.-97G= (n.-97G=) c.234G= (p.Gly78=) | |
14 | g.53952130C>G | CA7191834 | BMP4 | c.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 |
14 | g.53952130C>T | CA486658931 | BMP4 | c.93G>A (p.Gly31=) c.18G>A (p.Gly6=) c.-97G>A (n.-97G>A) c.234G>A (p.Gly78=) | gnomAD v4 |
14 | g.53952131C>A | CA389785592 | BMP4 | c.92G>T (p.Gly31Val) c.17G>T (p.Gly6Val) c.-98G>T (n.-98G>T) c.233G>T (p.Gly78Val) | |
14 | g.53952131C= | CA2137819467 | BMP4 | c.92G= (p.Gly31=) c.17G= (p.Gly6=) c.-98G= (n.-98G=) c.233G= (p.Gly78=) | |
14 | g.53952131C>G | CA389785593 | BMP4 | c.92G>C (p.Gly31Ala) c.17G>C (p.Gly6Ala) c.-98G>C (n.-98G>C) c.233G>C (p.Gly78Ala) | |
14 | g.53952131C>T | CA261472789 | BMP4 | c.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 |
14 | g.53952132C>A | CA389785596 | BMP4 | c.91G>T (p.Gly31Trp) c.16G>T (p.Gly6Trp) c.-99G>T (n.-99G>T) c.232G>T (p.Gly78Trp) | |
14 | g.53952132C>G | CA389785594 | BMP4 | c.91G>C (p.Gly31Arg) c.16G>C (p.Gly6Arg) c.-99G>C (n.-99G>C) c.232G>C (p.Gly78Arg) | |
14 | g.53952132C>T | CA389785595 | BMP4 | c.91G>A (p.Gly31Arg) c.16G>A (p.Gly6Arg) c.-99G>A (n.-99G>A) c.232G>A (p.Gly78Arg) | |
14 | g.53952133C>A | CA7191835 | BMP4 | c.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 |
14 | g.53952133C= | CA2137819473 | BMP4 | c.90G= (p.Thr30=) c.15G= (p.Thr5=) c.-100G= (n.-100G=) c.231G= (p.Thr77=) | |
14 | g.53952133C>G | CA7191837 | BMP4 | c.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 |
14 | g.53952133C>T | CA7191836 | BMP4 | c.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 |
14 | g.53952134G>A | CA7191838 | BMP4 | c.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 |
14 | g.53952134G>C | CA389785597 | BMP4 | c.89C>G (p.Thr30Arg) c.14C>G (p.Thr5Arg) c.-101C>G (n.-101C>G) c.230C>G (p.Thr77Arg) | |
14 | g.53952134G= | CA2137819475 | BMP4 | c.89C= (p.Thr30=) c.14C= (p.Thr5=) c.-101C= (n.-101C=) c.230C= (p.Thr77=) | |
14 | g.53952134G>T | CA389785598 | BMP4 | c.89C>A (p.Thr30Lys) c.14C>A (p.Thr5Lys) c.-101C>A (n.-101C>A) c.230C>A (p.Thr77Lys) | gnomAD v4 |
14 | g.53952135T>A | CA389785599 | BMP4 | c.88A>T (p.Thr30Ser) c.13A>T (p.Thr5Ser) c.-102A>T (n.-102A>T) c.229A>T (p.Thr77Ser) | |
14 | g.53952135T>C | CA7191839 | BMP4 | c.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 |
14 | g.53952135T>G | CA389785600 | BMP4 | c.88A>C (p.Thr30Pro) c.13A>C (p.Thr5Pro) c.-102A>C (n.-102A>C) c.229A>C (p.Thr77Pro) | |
14 | g.53952135T= | CA2137819477 | BMP4 | c.88A= (p.Thr30=) c.13A= (p.Thr5=) c.-102A= (n.-102A=) c.229A= (p.Thr77=) | |
14 | g.53952136C>A | CA389785601 | BMP4 | c.87G>T (p.Glu29Asp) c.12G>T (p.Glu4Asp) c.-103G>T (n.-103G>T) c.228G>T (p.Glu76Asp) | |
14 | g.53952136C= | CA2137819480 | BMP4 | c.87G= (p.Glu29=) c.12G= (p.Glu4=) c.-103G= (n.-103G=) c.228G= (p.Glu76=) | |
14 | g.53952136C>G | CA7191840 | BMP4 | c.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 |
14 | g.53952136C>T | CA261472790 | BMP4 | c.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 |
14 | g.53952137T>A | CA389785603 | BMP4 | c.86A>T (p.Glu29Val) c.11A>T (p.Glu4Val) c.-104A>T (n.-104A>T) c.227A>T (p.Glu76Val) | |
14 | g.53952137T>C | CA389785604 | BMP4 | c.86A>G (p.Glu29Gly) c.11A>G (p.Glu4Gly) c.-104A>G (n.-104A>G) c.227A>G (p.Glu76Gly) | |
14 | g.53952137T>G | CA389785602 | BMP4 | c.86A>C (p.Glu29Ala) c.11A>C (p.Glu4Ala) c.-104A>C (n.-104A>C) c.227A>C (p.Glu76Ala) | |
14 | g.53952138C>A | CA389785605 | BMP4 | c.85G>T (p.Glu29Ter) c.10G>T (p.Glu4Ter) c.-105G>T (n.-105G>T) c.226G>T (p.Glu76Ter) | |
14 | g.53952138C= | CA2137819482 | BMP4 | c.85G= (p.Glu29=) c.10G= (p.Glu4=) c.-105G= (n.-105G=) c.226G= (p.Glu76=) | |
14 | g.53952138C>G | CA389785606 | BMP4 | c.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 |
14 | g.53952138C>T | CA389785607 | BMP4 | c.85G>A (p.Glu29Lys) c.10G>A (p.Glu4Lys) c.-105G>A (n.-105G>A) c.226G>A (p.Glu76Lys) | |
14 | g.53952139A= | CA2137819483 | BMP4 | c.84T= (p.Pro28=) c.9T= (p.Pro3=) c.-106T= (n.-106T=) c.225T= (p.Pro75=) | |
14 | g.53952139A>C | CA486658937 | BMP4 | c.84T>G (p.Pro28=) c.9T>G (p.Pro3=) c.-106T>G (n.-106T>G) c.225T>G (p.Pro75=) | gnomAD v4 |
14 | g.53952139A>G | CA486658939 | BMP4 | c.84T>C (p.Pro28=) c.9T>C (p.Pro3=) c.-106T>C (n.-106T>C) c.225T>C (p.Pro75=) | dbSNP |
14 | g.53952139A>T | CA486658941 | BMP4 | c.84T>A (p.Pro28=) c.9T>A (p.Pro3=) c.-106T>A (n.-106T>A) c.225T>A (p.Pro75=) | |
14 | g.53952140G>A | CA389785608 | BMP4 | c.83C>T (p.Pro28Leu) c.8C>T (p.Pro3Leu) c.-107C>T (n.-107C>T) c.224C>T (p.Pro75Leu) | |
14 | g.53952140G>C | CA389785609 | BMP4 | c.83C>G (p.Pro28Arg) c.8C>G (p.Pro3Arg) c.-107C>G (n.-107C>G) c.224C>G (p.Pro75Arg) | |
14 | g.53952140G= | CA2137819489 | BMP4 | c.83C= (p.Pro28=) c.8C= (p.Pro3=) c.-107C= (n.-107C=) c.224C= (p.Pro75=) | |
14 | g.53952140G>T | CA389785610 | BMP4 | c.83C>A (p.Pro28His) c.8C>A (p.Pro3His) c.-107C>A (n.-107C>A) c.224C>A (p.Pro75His) | dbSNP |
14 | g.53952141G>A | CA389785611 | BMP4 | c.82C>T (p.Pro28Ser) c.7C>T (p.Pro3Ser) c.-108C>T (n.-108C>T) c.223C>T (p.Pro75Ser) | |
14 | g.53952141G>C | CA389785613 | BMP4 | c.82C>G (p.Pro28Ala) c.7C>G (p.Pro3Ala) c.-108C>G (n.-108C>G) c.223C>G (p.Pro75Ala) | |
14 | g.53952141G>T | CA389785612 | BMP4 | c.82C>A (p.Pro28Thr) c.7C>A (p.Pro3Thr) c.-108C>A (n.-108C>A) c.223C>A (p.Pro75Thr) | |
14 | g.53952142T>A | CA486658943 | BMP4 | c.81A>T (p.Ile27=) c.6A>T (p.Ile2=) c.-109A>T (n.-109A>T) c.222A>T (p.Ile74=) | |
14 | g.53952142T>C | CA389785614 | BMP4 | c.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 |
14 | g.53952142T>G | CA486658944 | BMP4 | c.81A>C (p.Ile27=) c.6A>C (p.Ile2=) c.-109A>C (n.-109A>C) c.222A>C (p.Ile74=) | dbSNP |
14 | g.53952142T= | CA2137819493 | BMP4 | c.81A= (p.Ile27=) c.6A= (p.Ile2=) c.-109A= (n.-109A=) c.222A= (p.Ile74=) | |
14 | g.53952143A>C | CA389785615 | BMP4 | c.80T>G (p.Ile27Arg) c.5T>G (p.Ile2Arg) c.-110T>G (n.-110T>G) c.221T>G (p.Ile74Arg) | |
14 | g.53952143A>G | CA389785616 | BMP4 | c.80T>C (p.Ile27Thr) c.5T>C (p.Ile2Thr) c.-110T>C (n.-110T>C) c.221T>C (p.Ile74Thr) | |
14 | g.53952143A>T | CA389785617 | BMP4 | c.80T>A (p.Ile27Lys) c.5T>A (p.Ile2Lys) c.-110T>A (n.-110T>A) c.221T>A (p.Ile74Lys) | |
14 | g.53952144T>A | CA389785620 | BMP4 | c.79A>T (p.Ile27Leu) c.4A>T (p.Ile2Leu) c.-111A>T (n.-111A>T) c.220A>T (p.Ile74Leu) | gnomAD v4 |
14 | g.53952144T>C | CA389785618 | BMP4 | c.79A>G (p.Ile27Val) c.4A>G (p.Ile2Val) c.-111A>G (n.-111A>G) c.220A>G (p.Ile74Val) | |
14 | g.53952144T>G | CA389785619 | BMP4 | c.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 |
14 | g.53952144T= | CA2137819497 | BMP4 | c.79A= (p.Ile27=) c.4A= (p.Ile2=) c.-111A= (n.-111A=) c.220A= (p.Ile74=) | |
14 | g.53952145C>A | CA389785621 | BMP4 | c.78G>T (p.Leu26Phe) c.3G>T (p.Leu1Phe) c.-112G>T (n.-112G>T) c.219G>T (p.Leu73Phe) | |
14 | g.53952145C>G | CA389785622 | BMP4 | c.78G>C (p.Leu26Phe) c.3G>C (p.Leu1Phe) c.-112G>C (n.-112G>C) c.219G>C (p.Leu73Phe) | |
14 | g.53952145C>T | CA486658946 | BMP4 | c.78G>A (p.Leu26=) c.3G>A (p.Leu1=) c.-112G>A (n.-112G>A) c.219G>A (p.Leu73=) | |
14 | g.53952146A>C | CA389785623 | BMP4 | c.77T>G (p.Leu26Trp) c.2T>G (p.Leu1Trp) c.-113T>G (n.-113T>G) c.218T>G (p.Leu73Trp) | gnomAD v4 |
14 | g.53952146A>G | CA389785624 | BMP4 | c.77T>C (p.Leu26Ser) c.2T>C (p.Leu1Ser) c.-113T>C (n.-113T>C) c.218T>C (p.Leu73Ser) | |
14 | g.53952146A>T | CA389785625 | BMP4 | c.77T>A (p.Leu26Ter) c.2T>A (p.Leu1Ter) c.-113T>A (n.-113T>A) c.218T>A (p.Leu73Ter) | |
14 | g.53952147A= | CA2137819502 | BMP4 | c.76T= (p.Leu26=) c.1T= (p.Leu1=) c.-114T= (n.-114T=) c.217T= (p.Leu73=) | |
14 | g.53952147A>C | CA389785626 | BMP4 | c.76T>G (p.Leu26Val) c.1T>G (p.Leu1Val) c.-114T>G (n.-114T>G) c.217T>G (p.Leu73Val) | |
14 | g.53952147A>G | CA7191841 | BMP4 | c.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 |
14 | g.53952147A>T | CA389785627 | BMP4 | c.76T>A (p.Leu26Met) c.1T>A (p.Leu1Met) c.-114T>A (n.-114T>A) c.217T>A (p.Leu73Met) | |
14 | g.53952148A= | CA2137819505 | BMP4 | c.75T= (p.Ser25=) c.-115T= (n.-115T=) c.216T= (p.Ser72=) | |
14 | g.53952148A>C | CA7191842 | BMP4 | c.75T>G (p.Ser25Arg) c.-115T>G (n.-115T>G) c.216T>G (p.Ser72Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.53952148A>G | CA486658952 | BMP4 | c.75T>C (p.Ser25=) c.-115T>C (n.-115T>C) c.216T>C (p.Ser72=) | |
14 | g.53952148A>T | CA389785628 | BMP4 | c.75T>A (p.Ser25Arg) c.-115T>A (n.-115T>A) c.216T>A (p.Ser72Arg) |