Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.53950711_53950728dup | CA614278085 | BMP4 | c.534_551dup (p.Val183_Met184insIleAsnIleTyrGluVal) c.392_409dup (n.392_409dup) c.345_362dup (p.Val120_Met121insIleAsnIleTyrGluVal) c.675_692dup (p.Val230_Met231insIleAsnIleTyrGluVal) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.53950718A>C | CA389784471 | BMP4 | c.541T>G (p.Tyr181Asp) c.399T>G (n.399T>G) c.352T>G (p.Tyr118Asp) c.682T>G (p.Tyr228Asp) | |
14 | g.53950718A>G | CA389784472 | BMP4 | c.541T>C (p.Tyr181His) c.399T>C (n.399T>C) c.352T>C (p.Tyr118His) c.682T>C (p.Tyr228His) | |
14 | g.53950718A>T | CA389784473 | BMP4 | c.541T>A (p.Tyr181Asn) c.399T>A (n.399T>A) c.352T>A (p.Tyr118Asn) c.682T>A (p.Tyr228Asn) | |
14 | g.53950719A>C | CA389784474 | BMP4 | c.540T>G (p.Ile180Met) c.398T>G (n.398T>G) c.351T>G (p.Ile117Met) c.681T>G (p.Ile227Met) | |
14 | g.53950719A>G | CA486658457 | BMP4 | c.540T>C (p.Ile180=) c.398T>C (n.398T>C) c.351T>C (p.Ile117=) c.681T>C (p.Ile227=) | |
14 | g.53950719A>T | CA486658458 | BMP4 | c.540T>A (p.Ile180=) c.398T>A (n.398T>A) c.351T>A (p.Ile117=) c.681T>A (p.Ile227=) | |
14 | g.53950720A>C | CA389784475 | BMP4 | c.539T>G (p.Ile180Ser) c.397T>G (n.397T>G) c.350T>G (p.Ile117Ser) c.680T>G (p.Ile227Ser) | |
14 | g.53950720A>G | CA389784476 | BMP4 | c.539T>C (p.Ile180Thr) c.397T>C (n.397T>C) c.350T>C (p.Ile117Thr) c.680T>C (p.Ile227Thr) | |
14 | g.53950720A>T | CA389784477 | BMP4 | c.539T>A (p.Ile180Asn) c.397T>A (n.397T>A) c.350T>A (p.Ile117Asn) c.680T>A (p.Ile227Asn) | |
14 | g.53950721T>A | CA389784478 | BMP4 | c.538A>T (p.Ile180Phe) c.396A>T (n.396A>T) c.349A>T (p.Ile117Phe) c.679A>T (p.Ile227Phe) | |
14 | g.53950721T>C | CA389784479 | BMP4 | c.538A>G (p.Ile180Val) c.396A>G (n.396A>G) c.349A>G (p.Ile117Val) c.679A>G (p.Ile227Val) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.53950721T>G | CA389784480 | BMP4 | c.538A>C (p.Ile180Leu) c.396A>C (n.396A>C) c.349A>C (p.Ile117Leu) c.679A>C (p.Ile227Leu) | |
14 | g.53950721T= | CA2137817676 | BMP4 | c.538A= (p.Ile180=) c.396A= (n.396A=) c.349A= (p.Ile117=) c.679A= (p.Ile227=) | |
14 | g.53950722G>A | CA486658461 | BMP4 | c.537C>T (p.Asn179=) c.395C>T (n.395C>T) c.348C>T (p.Asn116=) c.678C>T (p.Asn226=) | gnomAD v4 |
14 | g.53950722G>C | CA389784481 | BMP4 | c.537C>G (p.Asn179Lys) c.395C>G (n.395C>G) c.348C>G (p.Asn116Lys) c.678C>G (p.Asn226Lys) | |
14 | g.53950722G>T | CA389784482 | BMP4 | c.537C>A (p.Asn179Lys) c.395C>A (n.395C>A) c.348C>A (p.Asn116Lys) c.678C>A (p.Asn226Lys) | |
14 | g.53950723T>A | CA389784485 | BMP4 | c.536A>T (p.Asn179Ile) c.394A>T (n.394A>T) c.347A>T (p.Asn116Ile) c.677A>T (p.Asn226Ile) | |
14 | g.53950723T>C | CA389784484 | BMP4 | c.536A>G (p.Asn179Ser) c.394A>G (n.394A>G) c.347A>G (p.Asn116Ser) c.677A>G (p.Asn226Ser) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.53950723T>G | CA389784483 | BMP4 | c.536A>C (p.Asn179Thr) c.394A>C (n.394A>C) c.347A>C (p.Asn116Thr) c.677A>C (p.Asn226Thr) | |
14 | g.53950723T= | CA2137817680 | BMP4 | c.536A= (p.Asn179=) c.394A= (n.394A=) c.347A= (p.Asn116=) c.677A= (p.Asn226=) | |
14 | g.53950724T>A | CA389784486 | BMP4 | c.535A>T (p.Asn179Tyr) c.393A>T (n.393A>T) c.346A>T (p.Asn116Tyr) c.676A>T (p.Asn226Tyr) | |
14 | g.53950724T>C | CA389784487 | BMP4 | c.535A>G (p.Asn179Asp) c.393A>G (n.393A>G) c.346A>G (p.Asn116Asp) c.676A>G (p.Asn226Asp) | |
14 | g.53950724T>G | CA389784488 | BMP4 | c.535A>C (p.Asn179His) c.393A>C (n.393A>C) c.346A>C (p.Asn116His) c.676A>C (p.Asn226His) | |
14 | g.53950725T>A | CA486658468 | BMP4 | c.534A>T (p.Ile178=) c.392A>T (n.392A>T) c.345A>T (p.Ile115=) c.675A>T (p.Ile225=) | |
14 | g.53950725T>C | CA389784489 | BMP4 | c.534A>G (p.Ile178Met) c.392A>G (n.392A>G) c.345A>G (p.Ile115Met) c.675A>G (p.Ile225Met) | |
14 | g.53950725T>G | CA486658467 | BMP4 | c.534A>C (p.Ile178=) c.392A>C (n.392A>C) c.345A>C (p.Ile115=) c.675A>C (p.Ile225=) | gnomAD v4 |
14 | g.53950726A>C | CA389784490 | BMP4 | c.533T>G (p.Ile178Arg) c.391T>G (n.391T>G) c.344T>G (p.Ile115Arg) c.674T>G (p.Ile225Arg) | |
14 | g.53950726A>G | CA389784491 | BMP4 | c.533T>C (p.Ile178Thr) c.391T>C (n.391T>C) c.344T>C (p.Ile115Thr) c.674T>C (p.Ile225Thr) | |
14 | g.53950726A>T | CA389784492 | BMP4 | c.533T>A (p.Ile178Lys) c.391T>A (n.391T>A) c.344T>A (p.Ile115Lys) c.674T>A (p.Ile225Lys) | |
14 | g.53950727T>A | CA389784493 | BMP4 | c.532A>T (p.Ile178Leu) c.390A>T (n.390A>T) c.343A>T (p.Ile115Leu) c.673A>T (p.Ile225Leu) | |
14 | g.53950727T>C | CA389784494 | BMP4 | c.532A>G (p.Ile178Val) c.390A>G (n.390A>G) c.343A>G (p.Ile115Val) c.673A>G (p.Ile225Val) | gnomAD v4 |
14 | g.53950727T>G | CA389784495 | BMP4 | c.532A>C (p.Ile178Leu) c.390A>C (n.390A>C) c.343A>C (p.Ile115Leu) c.673A>C (p.Ile225Leu) | |
14 | g.53950728A>C | CA486658473 | BMP4 | c.531T>G (p.Arg177=) c.389T>G (n.389T>G) c.342T>G (p.Arg114=) c.672T>G (p.Arg224=) | |
14 | g.53950728A>G | CA486658474 | BMP4 | c.531T>C (p.Arg177=) c.389T>C (n.389T>C) c.342T>C (p.Arg114=) c.672T>C (p.Arg224=) | |
14 | g.53950728A>T | CA486658475 | BMP4 | c.531T>A (p.Arg177=) c.389T>A (n.389T>A) c.342T>A (p.Arg114=) c.672T>A (p.Arg224=) | |
14 | g.53950729C>A | CA389784496 | BMP4 | c.530G>T (p.Arg177Leu) c.388G>T (n.388G>T) c.341G>T (p.Arg114Leu) c.671G>T (p.Arg224Leu) | gnomAD v3 gnomAD v4 |
14 | g.53950729C= | CA2137817684 | BMP4 | c.530G= (p.Arg177=) c.388G= (n.388G=) c.341G= (p.Arg114=) c.671G= (p.Arg224=) | |
14 | g.53950729C>G | CA389784497 | BMP4 | c.530G>C (p.Arg177Pro) c.388G>C (n.388G>C) c.341G>C (p.Arg114Pro) c.671G>C (p.Arg224Pro) | |
14 | g.53950729C>T | CA7191722 | BMP4 | c.530G>A (p.Arg177His) c.388G>A (n.388G>A) c.341G>A (p.Arg114His) c.671G>A (p.Arg224His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53950729_53950732delinsCGGT | CA2137817687 | BMP4 | c.527_530delinsACCG (p.His176=) c.385_388delinsACCG (n.385_388delinsACCG) c.338_341delinsACCG (p.His113=) c.668_671delinsACCG (p.His223=) | |
14 | g.53950730G>A | CA389784499 | BMP4 | c.529C>T (p.Arg177Cys) c.387C>T (n.387C>T) c.340C>T (p.Arg114Cys) c.670C>T (p.Arg224Cys) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.53950730G>C | CA389784500 | BMP4 | c.529C>G (p.Arg177Gly) c.387C>G (n.387C>G) c.340C>G (p.Arg114Gly) c.670C>G (p.Arg224Gly) | |
14 | g.53950730G= | CA2137817697 | BMP4 | c.529C= (p.Arg177=) c.387C= (n.387C=) c.340C= (p.Arg114=) c.670C= (p.Arg224=) | |
14 | g.53950730G>T | CA389784498 | BMP4 | c.529C>A (p.Arg177Ser) c.387C>A (n.387C>A) c.340C>A (p.Arg114Ser) c.670C>A (p.Arg224Ser) | dbSNP |
14 | g.53950732_53950734del | CA614278086 | BMP4 | c.527_529del (p.His176del) c.385_387del (n.385_387del) c.338_340del (p.His113del) c.668_670del (p.His223del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53950731G>A | CA486658479 | BMP4 | c.528C>T (p.His176=) c.386C>T (n.386C>T) c.339C>T (p.His113=) c.669C>T (p.His223=) | gnomAD v4 COSMIC |
14 | g.53950731G>C | CA389784501 | BMP4 | c.528C>G (p.His176Gln) c.386C>G (n.386C>G) c.339C>G (p.His113Gln) c.669C>G (p.His223Gln) | |
14 | g.53950731G= | CA2137817701 | BMP4 | c.528C= (p.His176=) c.386C= (n.386C=) c.339C= (p.His113=) c.669C= (p.His223=) | |
14 | g.53950731G>T | CA389784502 | BMP4 | c.528C>A (p.His176Gln) c.386C>A (n.386C>A) c.339C>A (p.His113Gln) c.669C>A (p.His223Gln) | dbSNP gnomAD v2 |
14 | g.53950732T>A | CA389784503 | BMP4 | c.527A>T (p.His176Leu) c.385A>T (n.385A>T) c.338A>T (p.His113Leu) c.668A>T (p.His223Leu) | |
14 | g.53950732T>C | CA389784504 | BMP4 | c.527A>G (p.His176Arg) c.385A>G (n.385A>G) c.338A>G (p.His113Arg) c.668A>G (p.His223Arg) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.53950732T>G | CA389784505 | BMP4 | c.527A>C (p.His176Pro) c.385A>C (n.385A>C) c.338A>C (p.His113Pro) c.668A>C (p.His223Pro) | |
14 | g.53950732T= | CA2137817708 | BMP4 | c.527A= (p.His176=) c.385A= (n.385A=) c.338A= (p.His113=) c.668A= (p.His223=) | |
14 | g.53950733G>A | CA389784506 | BMP4 | c.526C>T (p.His176Tyr) c.384C>T (n.384C>T) c.337C>T (p.His113Tyr) c.667C>T (p.His223Tyr) | COSMIC |
14 | g.53950733G>C | CA389784507 | BMP4 | c.526C>G (p.His176Asp) c.384C>G (n.384C>G) c.337C>G (p.His113Asp) c.667C>G (p.His223Asp) | |
14 | g.53950733G>T | CA389784508 | BMP4 | c.526C>A (p.His176Asn) c.384C>A (n.384C>A) c.337C>A (p.His113Asn) c.667C>A (p.His223Asn) | |
14 | g.53950734G>A | CA486658486 | BMP4 | c.525C>T (p.Phe175=) c.383C>T (n.383C>T) c.336C>T (p.Phe112=) c.666C>T (p.Phe222=) | |
14 | g.53950734G>C | CA389784509 | BMP4 | c.525C>G (p.Phe175Leu) c.383C>G (n.383C>G) c.336C>G (p.Phe112Leu) c.666C>G (p.Phe222Leu) | |
14 | g.53950734G>T | CA389784510 | BMP4 | c.525C>A (p.Phe175Leu) c.383C>A (n.383C>A) c.336C>A (p.Phe112Leu) c.666C>A (p.Phe222Leu) | |
14 | g.53950735A>C | CA389784511 | BMP4 | c.524T>G (p.Phe175Cys) c.382T>G (n.382T>G) c.335T>G (p.Phe112Cys) c.665T>G (p.Phe222Cys) | |
14 | g.53950735A>G | CA389784512 | BMP4 | c.524T>C (p.Phe175Ser) c.382T>C (n.382T>C) c.335T>C (p.Phe112Ser) c.665T>C (p.Phe222Ser) | |
14 | g.53950735A>T | CA389784513 | BMP4 | c.524T>A (p.Phe175Tyr) c.382T>A (n.382T>A) c.335T>A (p.Phe112Tyr) c.665T>A (p.Phe222Tyr) | |
14 | g.53950736A>C | CA389784516 | BMP4 | c.523T>G (p.Phe175Val) c.381T>G (n.381T>G) c.334T>G (p.Phe112Val) c.664T>G (p.Phe222Val) | |
14 | g.53950736A>G | CA389784515 | BMP4 | c.523T>C (p.Phe175Leu) c.381T>C (n.381T>C) c.334T>C (p.Phe112Leu) c.664T>C (p.Phe222Leu) | |
14 | g.53950736A>T | CA389784514 | BMP4 | c.523T>A (p.Phe175Ile) c.381T>A (n.381T>A) c.334T>A (p.Phe112Ile) c.664T>A (p.Phe222Ile) | |
14 | g.53950737G>A | CA486658492 | BMP4 | c.522C>T (p.Gly174=) c.380C>T (n.380C>T) c.333C>T (p.Gly111=) c.663C>T (p.Gly221=) | COSMIC |
14 | g.53950737G>C | CA486658495 | BMP4 | c.522C>G (p.Gly174=) c.380C>G (n.380C>G) c.333C>G (p.Gly111=) c.663C>G (p.Gly221=) | |
14 | g.53950737G>T | CA486658496 | BMP4 | c.522C>A (p.Gly174=) c.380C>A (n.380C>A) c.333C>A (p.Gly111=) c.663C>A (p.Gly221=) | |
14 | g.53950738C>A | CA389784517 | BMP4 | c.521G>T (p.Gly174Val) c.379G>T (n.379G>T) c.332G>T (p.Gly111Val) c.662G>T (p.Gly221Val) | gnomAD v4 |
14 | g.53950738C= | CA2137817714 | BMP4 | c.521G= (p.Gly174=) c.379G= (n.379G=) c.332G= (p.Gly111=) c.662G= (p.Gly221=) | |
14 | g.53950738C>G | CA389784518 | BMP4 | c.521G>C (p.Gly174Ala) c.379G>C (n.379G>C) c.332G>C (p.Gly111Ala) c.662G>C (p.Gly221Ala) | COSMIC |
14 | g.53950738C>T | CA389784519 | BMP4 | c.521G>A (p.Gly174Asp) c.379G>A (n.379G>A) c.332G>A (p.Gly111Asp) c.662G>A (p.Gly221Asp) | ClinVar dbSNP gnomAD v4 |
14 | g.53950741dup | CA2695219358 | BMP4 | c.521dup (p.Phe175LeufsTer8) c.379dup (n.379dup) c.332dup (p.Phe112LeufsTer8) c.662dup (p.Phe222LeufsTer8) | |
14 | g.53950739C>A | CA389784520 | BMP4 | c.520G>T (p.Gly174Cys) c.378G>T (n.378G>T) c.331G>T (p.Gly111Cys) c.661G>T (p.Gly221Cys) | |
14 | g.53950739C= | CA2137817718 | BMP4 | c.520G= (p.Gly174=) c.378G= (n.378G=) c.331G= (p.Gly111=) c.661G= (p.Gly221=) | |
14 | g.53950739C>G | CA389784521 | BMP4 | c.520G>C (p.Gly174Arg) c.378G>C (n.378G>C) c.331G>C (p.Gly111Arg) c.661G>C (p.Gly221Arg) | |
14 | g.53950739C>T | CA389784522 | BMP4 | c.520G>A (p.Gly174Ser) c.378G>A (n.378G>A) c.331G>A (p.Gly111Ser) c.661G>A (p.Gly221Ser) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.53950740C>A | CA389784523 | BMP4 | c.519G>T (p.Arg173Ser) c.377G>T (n.377G>T) c.330G>T (p.Arg110Ser) c.660G>T (p.Arg220Ser) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.53950740C= | CA2137817722 | BMP4 | c.519G= (p.Arg173=) c.377G= (n.377G=) c.330G= (p.Arg110=) c.660G= (p.Arg220=) | |
14 | g.53950740C>G | CA389784524 | BMP4 | c.519G>C (p.Arg173Ser) c.377G>C (n.377G>C) c.330G>C (p.Arg110Ser) c.660G>C (p.Arg220Ser) | |
14 | g.53950740C>T | CA486658504 | BMP4 | c.519G>A (p.Arg173=) c.377G>A (n.377G>A) c.330G>A (p.Arg110=) c.660G>A (p.Arg220=) | ClinVar |
14 | g.53950741C>A | CA389784525 | BMP4 | c.518G>T (p.Arg173Met) c.376G>T (n.376G>T) c.329G>T (p.Arg110Met) c.659G>T (p.Arg220Met) | |
14 | g.53950741C= | CA2137817730 | BMP4 | c.518G= (p.Arg173=) c.376G= (n.376G=) c.329G= (p.Arg110=) c.659G= (p.Arg220=) | |
14 | g.53950741C>G | CA389784526 | BMP4 | c.518G>C (p.Arg173Thr) c.376G>C (n.376G>C) c.329G>C (p.Arg110Thr) c.659G>C (p.Arg220Thr) | dbSNP gnomAD v4 |
14 | g.53950741C>T | CA389784527 | BMP4 | c.518G>A (p.Arg173Lys) c.376G>A (n.376G>A) c.329G>A (p.Arg110Lys) c.659G>A (p.Arg220Lys) | |
14 | g.53950742T>A | CA389784528 | BMP4 | c.517A>T (p.Arg173Trp) c.375A>T (n.375A>T) c.328A>T (p.Arg110Trp) c.658A>T (p.Arg220Trp) | |
14 | g.53950742T>C | CA389784529 | BMP4 | c.517A>G (p.Arg173Gly) c.375A>G (n.375A>G) c.328A>G (p.Arg110Gly) c.658A>G (p.Arg220Gly) | gnomAD v4 |
14 | g.53950742T>G | CA486658505 | BMP4 | c.517A>C (p.Arg173=) c.375A>C (n.375A>C) c.328A>C (p.Arg110=) c.658A>C (p.Arg220=) | |
14 | g.53950743T>A | CA389784530 | BMP4 | c.516A>T (p.Glu172Asp) c.374A>T (n.374A>T) c.327A>T (p.Glu109Asp) c.657A>T (p.Glu219Asp) | |
14 | g.53950743T>C | CA486658507 | BMP4 | c.516A>G (p.Glu172=) c.374A>G (n.374A>G) c.327A>G (p.Glu109=) c.657A>G (p.Glu219=) | |
14 | g.53950743T>G | CA389784531 | BMP4 | c.516A>C (p.Glu172Asp) c.374A>C (n.374A>C) c.327A>C (p.Glu109Asp) c.657A>C (p.Glu219Asp) | |
14 | g.53950744T>A | CA389784532 | BMP4 | c.515A>T (p.Glu172Val) c.373A>T (n.373A>T) c.326A>T (p.Glu109Val) c.656A>T (p.Glu219Val) | |
14 | g.53950744T>C | CA389784533 | BMP4 | c.515A>G (p.Glu172Gly) c.373A>G (n.373A>G) c.326A>G (p.Glu109Gly) c.656A>G (p.Glu219Gly) | |
14 | g.53950744T>G | CA389784534 | BMP4 | c.515A>C (p.Glu172Ala) c.373A>C (n.373A>C) c.326A>C (p.Glu109Ala) c.656A>C (p.Glu219Ala) | |
14 | g.53950745C>A | CA389784535 | BMP4 | c.514G>T (p.Glu172Ter) c.372G>T (n.372G>T) c.325G>T (p.Glu109Ter) c.655G>T (p.Glu219Ter) | |
14 | g.53950745C= | CA2137817733 | BMP4 | c.514G= (p.Glu172=) c.372G= (n.372G=) c.325G= (p.Glu109=) c.655G= (p.Glu219=) | |
14 | g.53950745C>G | CA389784536 | BMP4 | c.514G>C (p.Glu172Gln) c.372G>C (n.372G>C) c.325G>C (p.Glu109Gln) c.655G>C (p.Glu219Gln) | |
14 | g.53950745C>T | CA7191723 | BMP4 | c.514G>A (p.Glu172Lys) c.372G>A (n.372G>A) c.325G>A (p.Glu109Lys) c.655G>A (p.Glu219Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53950746C>A | CA389784537 | BMP4 | c.513G>T (p.Trp171Cys) c.371G>T (n.371G>T) c.324G>T (p.Trp108Cys) c.654G>T (p.Trp218Cys) | |
14 | g.53950746C= | CA2137817735 | BMP4 | c.513G= (p.Trp171=) c.371G= (n.371G=) c.324G= (p.Trp108=) c.654G= (p.Trp218=) | |
14 | g.53950746C>G | CA389784538 | BMP4 | c.513G>C (p.Trp171Cys) c.371G>C (n.371G>C) c.324G>C (p.Trp108Cys) c.654G>C (p.Trp218Cys) | |
14 | g.53950746C>T | CA389784539 | BMP4 | c.513G>A (p.Trp171Ter) c.371G>A (n.371G>A) c.324G>A (p.Trp108Ter) c.654G>A (p.Trp218Ter) | dbSNP |
14 | g.53950747C>A | CA389784540 | BMP4 | c.512G>T (p.Trp171Leu) c.370G>T (n.370G>T) c.323G>T (p.Trp108Leu) c.653G>T (p.Trp218Leu) | |
14 | g.53950747C= | CA2137817738 | BMP4 | c.512G= (p.Trp171=) c.370G= (n.370G=) c.323G= (p.Trp108=) c.653G= (p.Trp218=) | |
14 | g.53950747C>G | CA389784541 | BMP4 | c.512G>C (p.Trp171Ser) c.370G>C (n.370G>C) c.323G>C (p.Trp108Ser) c.653G>C (p.Trp218Ser) | |
14 | g.53950747C>T | CA16619873 | BMP4 | c.512G>A (p.Trp171Ter) c.370G>A (n.370G>A) c.323G>A (p.Trp108Ter) c.653G>A (p.Trp218Ter) | ClinVar dbSNP |
14 | g.53950748A>C | CA389784544 | BMP4 | c.511T>G (p.Trp171Gly) c.369T>G (n.369T>G) c.322T>G (p.Trp108Gly) c.652T>G (p.Trp218Gly) | |
14 | g.53950748A>G | CA389784542 | BMP4 | c.511T>C (p.Trp171Arg) c.369T>C (n.369T>C) c.322T>C (p.Trp108Arg) c.652T>C (p.Trp218Arg) | |
14 | g.53950748A>T | CA389784543 | BMP4 | c.511T>A (p.Trp171Arg) c.369T>A (n.369T>A) c.322T>A (p.Trp108Arg) c.652T>A (p.Trp218Arg) | |
14 | g.53950749A= | CA2137817742 | BMP4 | c.510T= (p.Asp170=) c.368T= (n.368T=) c.321T= (p.Asp107=) c.651T= (p.Asp217=) | |
14 | g.53950749A>C | CA389784545 | BMP4 | c.510T>G (p.Asp170Glu) c.368T>G (n.368T>G) c.321T>G (p.Asp107Glu) c.651T>G (p.Asp217Glu) | |
14 | g.53950749A>G | CA7191724 | BMP4 | c.510T>C (p.Asp170=) c.368T>C (n.368T>C) c.321T>C (p.Asp107=) c.651T>C (p.Asp217=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.53950749A>T | CA7191725 | BMP4 | c.510T>A (p.Asp170Glu) c.368T>A (n.368T>A) c.321T>A (p.Asp107Glu) c.651T>A (p.Asp217Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.53950750T>A | CA389784546 | BMP4 | c.509A>T (p.Asp170Val) c.367A>T (n.367A>T) c.320A>T (p.Asp107Val) c.650A>T (p.Asp217Val) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.53950750T>C | CA389784547 | BMP4 | c.509A>G (p.Asp170Gly) c.367A>G (n.367A>G) c.320A>G (p.Asp107Gly) c.650A>G (p.Asp217Gly) | |
14 | g.53950750T>G | CA389784548 | BMP4 | c.509A>C (p.Asp170Ala) c.367A>C (n.367A>C) c.320A>C (p.Asp107Ala) c.650A>C (p.Asp217Ala) | |
14 | g.53950750T= | CA2137817746 | BMP4 | c.509A= (p.Asp170=) c.367A= (n.367A=) c.320A= (p.Asp107=) c.650A= (p.Asp217=) | |
14 | g.53950751C>A | CA389784549 | BMP4 | c.508G>T (p.Asp170Tyr) c.366G>T (n.366G>T) c.319G>T (p.Asp107Tyr) c.649G>T (p.Asp217Tyr) | |
14 | g.53950751C>G | CA389784550 | BMP4 | c.508G>C (p.Asp170His) c.366G>C (n.366G>C) c.319G>C (p.Asp107His) c.649G>C (p.Asp217His) | gnomAD v4 |
14 | g.53950751C>T | CA389784551 | BMP4 | c.508G>A (p.Asp170Asn) c.366G>A (n.366G>A) c.319G>A (p.Asp107Asn) c.649G>A (p.Asp217Asn) | |
14 | g.53950752A>C | CA486658523 | BMP4 | c.507T>G (p.Pro169=) c.365T>G (n.365T>G) c.318T>G (p.Pro106=) c.648T>G (p.Pro216=) | |
14 | g.53950752A>G | CA486658524 | BMP4 | c.507T>C (p.Pro169=) c.365T>C (n.365T>C) c.318T>C (p.Pro106=) c.648T>C (p.Pro216=) | |
14 | g.53950752A>T | CA486658525 | BMP4 | c.507T>A (p.Pro169=) c.365T>A (n.365T>A) c.318T>A (p.Pro106=) c.648T>A (p.Pro216=) | |
14 | g.53950753G>A | CA389784552 | BMP4 | c.506C>T (p.Pro169Leu) c.364C>T (n.364C>T) c.317C>T (p.Pro106Leu) c.647C>T (p.Pro216Leu) | |
14 | g.53950753G>C | CA389784553 | BMP4 | c.506C>G (p.Pro169Arg) c.364C>G (n.364C>G) c.317C>G (p.Pro106Arg) c.647C>G (p.Pro216Arg) | |
14 | g.53950753G>T | CA389784554 | BMP4 | c.506C>A (p.Pro169His) c.364C>A (n.364C>A) c.317C>A (p.Pro106His) c.647C>A (p.Pro216His) | |
14 | g.53950754G>A | CA389784556 | BMP4 | c.505C>T (p.Pro169Ser) c.363C>T (n.363C>T) c.316C>T (p.Pro106Ser) c.646C>T (p.Pro216Ser) | |
14 | g.53950754G>C | CA389784557 | BMP4 | c.505C>G (p.Pro169Ala) c.363C>G (n.363C>G) c.316C>G (p.Pro106Ala) c.646C>G (p.Pro216Ala) | dbSNP |
14 | g.53950754G>T | CA389784555 | BMP4 | c.505C>A (p.Pro169Thr) c.363C>A (n.363C>A) c.316C>A (p.Pro106Thr) c.646C>A (p.Pro216Thr) | |
14 | g.53950755G>A | CA486658529 | BMP4 | c.504C>T (p.Gly168=) c.362C>T (n.362C>T) c.315C>T (p.Gly105=) c.645C>T (p.Gly215=) | |
14 | g.53950755G>C | CA486658530 | BMP4 | c.504C>G (p.Gly168=) c.362C>G (n.362C>G) c.315C>G (p.Gly105=) c.645C>G (p.Gly215=) | |
14 | g.53950755G>T | CA486658531 | BMP4 | c.504C>A (p.Gly168=) c.362C>A (n.362C>A) c.315C>A (p.Gly105=) c.645C>A (p.Gly215=) | |
14 | g.53950756C>A | CA389784560 | BMP4 | c.503G>T (p.Gly168Val) c.361G>T (n.361G>T) c.314G>T (p.Gly105Val) c.644G>T (p.Gly215Val) | |
14 | g.53950756C>G | CA389784558 | BMP4 | c.503G>C (p.Gly168Ala) c.361G>C (n.361G>C) c.314G>C (p.Gly105Ala) c.644G>C (p.Gly215Ala) | |
14 | g.53950756C>T | CA389784559 | BMP4 | c.503G>A (p.Gly168Asp) c.361G>A (n.361G>A) c.314G>A (p.Gly105Asp) c.644G>A (p.Gly215Asp) | gnomAD v4 |
14 | g.53950757C>A | CA389784561 | BMP4 | c.502G>T (p.Gly168Cys) c.360G>T (n.360G>T) c.313G>T (p.Gly105Cys) c.643G>T (p.Gly215Cys) | |
14 | g.53950757C= | CA2137817749 | BMP4 | c.502G= (p.Gly168=) c.360G= (n.360G=) c.313G= (p.Gly105=) c.643G= (p.Gly215=) | |
14 | g.53950757C>G | CA7191726 | BMP4 | c.502G>C (p.Gly168Arg) c.360G>C (n.360G>C) c.313G>C (p.Gly105Arg) c.643G>C (p.Gly215Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53950757C>T | CA389784562 | BMP4 | c.502G>A (p.Gly168Ser) c.360G>A (n.360G>A) c.313G>A (p.Gly105Ser) c.643G>A (p.Gly215Ser) | |
14 | g.53950758C>A | CA389784563 | BMP4 | c.501G>T (p.Gln167His) c.359G>T (n.359G>T) c.312G>T (p.Gln104His) c.642G>T (p.Gln214His) | |
14 | g.53950758C>G | CA389784564 | BMP4 | c.501G>C (p.Gln167His) c.359G>C (n.359G>C) c.312G>C (p.Gln104His) c.642G>C (p.Gln214His) | |
14 | g.53950758C>T | CA486658535 | BMP4 | c.501G>A (p.Gln167=) c.359G>A (n.359G>A) c.312G>A (p.Gln104=) c.642G>A (p.Gln214=) | |
14 | g.53950759T>A | CA389784567 | BMP4 | c.500A>T (p.Gln167Leu) c.358A>T (n.358A>T) c.311A>T (p.Gln104Leu) c.641A>T (p.Gln214Leu) | |
14 | g.53950759T>C | CA389784565 | BMP4 | c.500A>G (p.Gln167Arg) c.358A>G (n.358A>G) c.311A>G (p.Gln104Arg) c.641A>G (p.Gln214Arg) | |
14 | g.53950759T>G | CA389784566 | BMP4 | c.500A>C (p.Gln167Pro) c.358A>C (n.358A>C) c.311A>C (p.Gln104Pro) c.641A>C (p.Gln214Pro) | |
14 | g.53950760G>A | CA389784568 | BMP4 | c.499C>T (p.Gln167Ter) c.357C>T (n.357C>T) c.310C>T (p.Gln104Ter) c.640C>T (p.Gln214Ter) | |
14 | g.53950760G>C | CA389784569 | BMP4 | c.499C>G (p.Gln167Glu) c.357C>G (n.357C>G) c.310C>G (p.Gln104Glu) c.640C>G (p.Gln214Glu) | |
14 | g.53950760G>T | CA389784570 | BMP4 | c.499C>A (p.Gln167Lys) c.357C>A (n.357C>A) c.310C>A (p.Gln104Lys) c.640C>A (p.Gln214Lys) | |
14 | g.53950761G>A | CA486658536 | BMP4 | c.498C>T (p.Asp166=) c.356C>T (n.356C>T) c.309C>T (p.Asp103=) c.639C>T (p.Asp213=) | gnomAD v4 |
14 | g.53950761G>C | CA389784571 | BMP4 | c.498C>G (p.Asp166Glu) c.356C>G (n.356C>G) c.309C>G (p.Asp103Glu) c.639C>G (p.Asp213Glu) | |
14 | g.53950761G>T | CA389784572 | BMP4 | c.498C>A (p.Asp166Glu) c.356C>A (n.356C>A) c.309C>A (p.Asp103Glu) c.639C>A (p.Asp213Glu) | |
14 | g.53950762T>A | CA389784573 | BMP4 | c.497A>T (p.Asp166Val) c.355A>T (n.355A>T) c.308A>T (p.Asp103Val) c.638A>T (p.Asp213Val) | |
14 | g.53950762T>C | CA389784575 | BMP4 | c.497A>G (p.Asp166Gly) c.355A>G (n.355A>G) c.308A>G (p.Asp103Gly) c.638A>G (p.Asp213Gly) | |
14 | g.53950762T>G | CA389784574 | BMP4 | c.497A>C (p.Asp166Ala) c.355A>C (n.355A>C) c.308A>C (p.Asp103Ala) c.638A>C (p.Asp213Ala) | |
14 | g.53950763C>A | CA389784576 | BMP4 | c.496G>T (p.Asp166Tyr) c.354G>T (n.354G>T) c.307G>T (p.Asp103Tyr) c.637G>T (p.Asp213Tyr) | |
14 | g.53950763C= | CA2137817756 | BMP4 | c.496G= (p.Asp166=) c.354G= (n.354G=) c.307G= (p.Asp103=) c.637G= (p.Asp213=) | |
14 | g.53950763C>G | CA389784577 | BMP4 | c.496G>C (p.Asp166His) c.354G>C (n.354G>C) c.307G>C (p.Asp103His) c.637G>C (p.Asp213His) | |
14 | g.53950763C>T | CA7191727 | BMP4 | c.496G>A (p.Asp166Asn) c.354G>A (n.354G>A) c.307G>A (p.Asp103Asn) c.637G>A (p.Asp213Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53950764C>A | CA486658540 | BMP4 | c.495G>T (p.Val165=) c.353G>T (n.353G>T) c.306G>T (p.Val102=) c.636G>T (p.Val212=) | |
14 | g.53950764C= | CA2137817763 | BMP4 | c.495G= (p.Val165=) c.353G= (n.353G=) c.306G= (p.Val102=) c.636G= (p.Val212=) | |
14 | g.53950764C>G | CA486658541 | BMP4 | c.495G>C (p.Val165=) c.353G>C (n.353G>C) c.306G>C (p.Val102=) c.636G>C (p.Val212=) | |
14 | g.53950764C>T | CA486658542 | BMP4 | c.495G>A (p.Val165=) c.353G>A (n.353G>A) c.306G>A (p.Val102=) c.636G>A (p.Val212=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53950765A>C | CA389784578 | BMP4 | c.494T>G (p.Val165Gly) c.352T>G (n.352T>G) c.305T>G (p.Val102Gly) c.635T>G (p.Val212Gly) | |
14 | g.53950765A>G | CA389784579 | BMP4 | c.494T>C (p.Val165Ala) c.352T>C (n.352T>C) c.305T>C (p.Val102Ala) c.635T>C (p.Val212Ala) | |
14 | g.53950765A>T | CA389784580 | BMP4 | c.494T>A (p.Val165Glu) c.352T>A (n.352T>A) c.305T>A (p.Val102Glu) c.635T>A (p.Val212Glu) | |
14 | g.53950766C>A | CA389784581 | BMP4 | c.493G>T (p.Val165Leu) c.351G>T (n.351G>T) c.304G>T (p.Val102Leu) c.634G>T (p.Val212Leu) | |
14 | g.53950766C>G | CA389784582 | BMP4 | c.493G>C (p.Val165Leu) c.351G>C (n.351G>C) c.304G>C (p.Val102Leu) c.634G>C (p.Val212Leu) | |
14 | g.53950766C>T | CA389784583 | BMP4 | c.493G>A (p.Val165Met) c.351G>A (n.351G>A) c.304G>A (p.Val102Met) c.634G>A (p.Val212Met) | |
14 | g.53950767C>A | CA389784584 | BMP4 | c.492G>T (p.Gln164His) c.350G>T (n.350G>T) c.303G>T (p.Gln101His) c.633G>T (p.Gln211His) | |
14 | g.53950767C>G | CA389784585 | BMP4 | c.492G>C (p.Gln164His) c.350G>C (n.350G>C) c.303G>C (p.Gln101His) c.633G>C (p.Gln211His) | gnomAD v4 |
14 | g.53950767C>T | CA486658543 | BMP4 | c.492G>A (p.Gln164=) c.350G>A (n.350G>A) c.303G>A (p.Gln101=) c.633G>A (p.Gln211=) | |
14 | g.53950768T>A | CA389784586 | BMP4 | c.491A>T (p.Gln164Leu) c.349A>T (n.349A>T) c.302A>T (p.Gln101Leu) c.632A>T (p.Gln211Leu) | gnomAD v4 |
14 | g.53950768T>C | CA389784588 | BMP4 | c.491A>G (p.Gln164Arg) c.349A>G (n.349A>G) c.302A>G (p.Gln101Arg) c.632A>G (p.Gln211Arg) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.53950768T>G | CA389784587 | BMP4 | c.491A>C (p.Gln164Pro) c.349A>C (n.349A>C) c.302A>C (p.Gln101Pro) c.632A>C (p.Gln211Pro) | |
14 | g.53950768T= | CA2137817767 | BMP4 | c.491A= (p.Gln164=) c.349A= (n.349A=) c.302A= (p.Gln101=) c.632A= (p.Gln211=) | |
14 | g.53950769G>A | CA389784589 | BMP4 | c.490C>T (p.Gln164Ter) c.348C>T (n.348C>T) c.301C>T (p.Gln101Ter) c.631C>T (p.Gln211Ter) | gnomAD v4 |
14 | g.53950769G>C | CA389784590 | BMP4 | c.490C>G (p.Gln164Glu) c.348C>G (n.348C>G) c.301C>G (p.Gln101Glu) c.631C>G (p.Gln211Glu) | |
14 | g.53950769G>T | CA389784591 | BMP4 | c.490C>A (p.Gln164Lys) c.348C>A (n.348C>A) c.301C>A (p.Gln101Lys) c.631C>A (p.Gln211Lys) | |
14 | g.53950770C>A | CA389784592 | BMP4 | c.489G>T (p.Glu163Asp) c.347G>T (n.347G>T) c.300G>T (p.Glu100Asp) c.630G>T (p.Glu210Asp) | |
14 | g.53950770C= | CA2137817770 | BMP4 | c.489G= (p.Glu163=) c.347G= (n.347G=) c.300G= (p.Glu100=) c.630G= (p.Glu210=) | |
14 | g.53950770C>G | CA389784593 | BMP4 | c.489G>C (p.Glu163Asp) c.347G>C (n.347G>C) c.300G>C (p.Glu100Asp) c.630G>C (p.Glu210Asp) | gnomAD v4 |
14 | g.53950770C>T | CA486658545 | BMP4 | c.489G>A (p.Glu163=) c.347G>A (n.347G>A) c.300G>A (p.Glu100=) c.630G>A (p.Glu210=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.53950771del | CA2843401205 | BMP4 | c.488del (p.Glu163GlyfsTer16) c.346del (n.346del) c.299del (p.Glu100GlyfsTer16) c.629del (p.Glu210GlyfsTer16) | |
14 | g.53950771T>A | CA389784594 | BMP4 | c.488A>T (p.Glu163Val) c.346A>T (n.346A>T) c.299A>T (p.Glu100Val) c.629A>T (p.Glu210Val) | |
14 | g.53950771T>C | CA389784595 | BMP4 | c.488A>G (p.Glu163Gly) c.346A>G (n.346A>G) c.299A>G (p.Glu100Gly) c.629A>G (p.Glu210Gly) | |
14 | g.53950771T>G | CA389784596 | BMP4 | c.488A>C (p.Glu163Ala) c.346A>C (n.346A>C) c.299A>C (p.Glu100Ala) c.629A>C (p.Glu210Ala) | |
14 | g.53950771dup | CA2839618630 | BMP4 | c.488dup (p.Gln164AlafsTer7) c.346dup (n.346dup) c.299dup (p.Gln101AlafsTer7) c.629dup (p.Gln211AlafsTer7) | |
14 | g.53950771_53950772delinsTC | CA2137817773 | BMP4 | c.487_488delinsGA (p.Glu163=) c.345_346delinsGA (n.345_346delinsGA) c.298_299delinsGA (p.Glu100=) c.628_629delinsGA (p.Glu210=) | |
14 | g.53950772C>A | CA389784597 | BMP4 | c.487G>T (p.Glu163Ter) c.345G>T (n.345G>T) c.298G>T (p.Glu100Ter) c.628G>T (p.Glu210Ter) | |
14 | g.53950772C= | CA2137817780 | BMP4 | c.487G= (p.Glu163=) c.345G= (n.345G=) c.298G= (p.Glu100=) c.628G= (p.Glu210=) | |
14 | g.53950772C>G | CA389784598 | BMP4 | c.487G>C (p.Glu163Gln) c.345G>C (n.345G>C) c.298G>C (p.Glu100Gln) c.628G>C (p.Glu210Gln) | |
14 | g.53950772C>T | CA389784599 | BMP4 | c.487G>A (p.Glu163Lys) c.345G>A (n.345G>A) c.298G>A (p.Glu100Lys) c.628G>A (p.Glu210Lys) | dbSNP |
14 | g.53950774del | CA614278096 | BMP4 | c.487del (p.Glu163SerfsTer16) c.345del (n.345del) c.298del (p.Glu100SerfsTer16) c.628del (p.Glu210SerfsTer16) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.53950773C>A | CA486658550 | BMP4 | c.486G>T (p.Arg162=) c.344G>T (n.344G>T) c.297G>T (p.Arg99=) c.627G>T (p.Arg209=) | gnomAD v4 |
14 | g.53950773C>G | CA486658551 | BMP4 | c.486G>C (p.Arg162=) c.344G>C (n.344G>C) c.297G>C (p.Arg99=) c.627G>C (p.Arg209=) | |
14 | g.53950773C>T | CA486658552 | BMP4 | c.486G>A (p.Arg162=) c.344G>A (n.344G>A) c.297G>A (p.Arg99=) c.627G>A (p.Arg209=) | |
14 | g.53950774C>A | CA389784601 | BMP4 | c.485G>T (p.Arg162Leu) c.343G>T (n.343G>T) c.296G>T (p.Arg99Leu) c.626G>T (p.Arg209Leu) | |
14 | g.53950774C= | CA2137817783 | BMP4 | c.485G= (p.Arg162=) c.343G= (n.343G=) c.296G= (p.Arg99=) c.626G= (p.Arg209=) | |
14 | g.53950774C>G | CA389784600 | BMP4 | c.485G>C (p.Arg162Pro) c.343G>C (n.343G>C) c.296G>C (p.Arg99Pro) c.626G>C (p.Arg209Pro) | gnomAD v4 |
14 | g.53950774C>T | CA7191728 | BMP4 | c.485G>A (p.Arg162Gln) c.343G>A (n.343G>A) c.296G>A (p.Arg99Gln) c.626G>A (p.Arg209Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53950775G>A | CA7191729 | BMP4 | c.484C>T (p.Arg162Trp) c.342C>T (n.342C>T) c.295C>T (p.Arg99Trp) c.625C>T (p.Arg209Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.53950775G>C | CA389784602 | BMP4 | c.484C>G (p.Arg162Gly) c.342C>G (n.342C>G) c.295C>G (p.Arg99Gly) c.625C>G (p.Arg209Gly) | gnomAD v4 |
14 | g.53950775G= | CA2137817787 | BMP4 | c.484C= (p.Arg162=) c.342C= (n.342C=) c.295C= (p.Arg99=) c.625C= (p.Arg209=) | |
14 | g.53950775G>T | CA486658553 | BMP4 | c.484C>A (p.Arg162=) c.342C>A (n.342C>A) c.295C>A (p.Arg99=) c.625C>A (p.Arg209=) | gnomAD v4 |
14 | g.53950776G>A | CA486658554 | BMP4 | c.483C>T (p.Phe161=) c.341C>T (n.341C>T) c.294C>T (p.Phe98=) c.624C>T (p.Phe208=) | gnomAD v4 |
14 | g.53950776G>C | CA389784603 | BMP4 | c.483C>G (p.Phe161Leu) c.341C>G (n.341C>G) c.294C>G (p.Phe98Leu) c.624C>G (p.Phe208Leu) | |
14 | g.53950776G>T | CA389784604 | BMP4 | c.483C>A (p.Phe161Leu) c.341C>A (n.341C>A) c.294C>A (p.Phe98Leu) c.624C>A (p.Phe208Leu) | |
14 | g.53950777A>C | CA389784605 | BMP4 | c.482T>G (p.Phe161Cys) c.340T>G (n.340T>G) c.293T>G (p.Phe98Cys) c.623T>G (p.Phe208Cys) | |
14 | g.53950777A>G | CA389784606 | BMP4 | c.482T>C (p.Phe161Ser) c.340T>C (n.340T>C) c.293T>C (p.Phe98Ser) c.623T>C (p.Phe208Ser) | |
14 | g.53950777A>T | CA389784607 | BMP4 | c.482T>A (p.Phe161Tyr) c.340T>A (n.340T>A) c.293T>A (p.Phe98Tyr) c.623T>A (p.Phe208Tyr) | |
14 | g.53950778dup | CA2838405224 | BMP4 | c.482dup (p.Arg162ProfsTer9) c.340dup (n.340dup) c.293dup (p.Arg99ProfsTer9) c.623dup (p.Arg209ProfsTer9) | |
14 | g.53950778A= | CA2137817791 | BMP4 | c.481T= (p.Phe161=) c.339T= (n.339T=) c.292T= (p.Phe98=) c.622T= (p.Phe208=) | |
14 | g.53950778A>C | CA389784608 | BMP4 | c.481T>G (p.Phe161Val) c.339T>G (n.339T>G) c.292T>G (p.Phe98Val) c.622T>G (p.Phe208Val) | |
14 | g.53950778A>G | CA7191730 | BMP4 | c.481T>C (p.Phe161Leu) c.339T>C (n.339T>C) c.292T>C (p.Phe98Leu) c.622T>C (p.Phe208Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.53950778A>T | CA389784609 | BMP4 | c.481T>A (p.Phe161Ile) c.339T>A (n.339T>A) c.292T>A (p.Phe98Ile) c.622T>A (p.Phe208Ile) | |
14 | g.53950779G>A | CA486658556 | BMP4 | c.480C>T (p.Leu160=) c.338C>T (n.338C>T) c.291C>T (p.Leu97=) c.621C>T (p.Leu207=) | dbSNP gnomAD v4 |
14 | g.53950779G>C | CA486658557 | BMP4 | c.480C>G (p.Leu160=) c.338C>G (n.338C>G) c.291C>G (p.Leu97=) c.621C>G (p.Leu207=) | |
14 | g.53950779G= | CA2137817793 | BMP4 | c.480C= (p.Leu160=) c.338C= (n.338C=) c.291C= (p.Leu97=) c.621C= (p.Leu207=) | |
14 | g.53950779G>T | CA486658558 | BMP4 | c.480C>A (p.Leu160=) c.338C>A (n.338C>A) c.291C>A (p.Leu97=) c.621C>A (p.Leu207=) | gnomAD v4 |
14 | g.53950780A>C | CA389784610 | BMP4 | c.479T>G (p.Leu160Arg) c.337T>G (n.337T>G) c.290T>G (p.Leu97Arg) c.620T>G (p.Leu207Arg) | |
14 | g.53950780A>G | CA389784611 | BMP4 | c.479T>C (p.Leu160Pro) c.337T>C (n.337T>C) c.290T>C (p.Leu97Pro) c.620T>C (p.Leu207Pro) | |
14 | g.53950780A>T | CA389784612 | BMP4 | c.479T>A (p.Leu160His) c.337T>A (n.337T>A) c.290T>A (p.Leu97His) c.620T>A (p.Leu207His) | |
14 | g.53950781G>A | CA389784614 | BMP4 | c.478C>T (p.Leu160Phe) c.336C>T (n.336C>T) c.289C>T (p.Leu97Phe) c.619C>T (p.Leu207Phe) | COSMIC |
14 | g.53950781G>C | CA389784615 | BMP4 | c.478C>G (p.Leu160Val) c.336C>G (n.336C>G) c.289C>G (p.Leu97Val) c.619C>G (p.Leu207Val) | gnomAD v4 |
14 | g.53950781G>T | CA389784613 | BMP4 | c.478C>A (p.Leu160Ile) c.336C>A (n.336C>A) c.289C>A (p.Leu97Ile) c.619C>A (p.Leu207Ile) | gnomAD v4 |
14 | g.53950781dup | CA2839618631 | BMP4 | c.478dup (p.Leu160ProfsTer11) c.336dup (n.336dup) c.289dup (p.Leu97ProfsTer11) c.619dup (p.Leu207ProfsTer11) | |
14 | g.53950782C>A | CA486658562 | BMP4 | c.477G>T (p.Arg159=) c.335G>T (n.335G>T) c.288G>T (p.Arg96=) c.618G>T (p.Arg206=) | |
14 | g.53950782C>G | CA486658563 | BMP4 | c.477G>C (p.Arg159=) c.335G>C (n.335G>C) c.288G>C (p.Arg96=) c.618G>C (p.Arg206=) | gnomAD v4 |
14 | g.53950782C>T | CA486658564 | BMP4 | c.477G>A (p.Arg159=) c.335G>A (n.335G>A) c.288G>A (p.Arg96=) c.618G>A (p.Arg206=) | |
14 | g.53950783C>A | CA389784617 | BMP4 | c.476G>T (p.Arg159Leu) c.334G>T (n.334G>T) c.287G>T (p.Arg96Leu) c.617G>T (p.Arg206Leu) | |
14 | g.53950783C= | CA2137817798 | BMP4 | c.476G= (p.Arg159=) c.334G= (n.334G=) c.287G= (p.Arg96=) c.617G= (p.Arg206=) | |
14 | g.53950783C>G | CA389784616 | BMP4 | c.476G>C (p.Arg159Pro) c.334G>C (n.334G>C) c.287G>C (p.Arg96Pro) c.617G>C (p.Arg206Pro) | |
14 | g.53950783C>T | CA7191731 | BMP4 | c.476G>A (p.Arg159Gln) c.334G>A (n.334G>A) c.287G>A (p.Arg96Gln) c.617G>A (p.Arg206Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53950784G>A | CA7191732 | BMP4 | c.475C>T (p.Arg159Trp) c.333C>T (n.333C>T) c.286C>T (p.Arg96Trp) c.616C>T (p.Arg206Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53950784G>C | CA389784618 | BMP4 | c.475C>G (p.Arg159Gly) c.333C>G (n.333C>G) c.286C>G (p.Arg96Gly) c.616C>G (p.Arg206Gly) | |
14 | g.53950784G= | CA2137817800 | BMP4 | c.475C= (p.Arg159=) c.333C= (n.333C=) c.286C= (p.Arg96=) c.616C= (p.Arg206=) | |
14 | g.53950784G>T | CA486658565 | BMP4 | c.475C>A (p.Arg159=) c.333C>A (n.333C>A) c.286C>A (p.Arg96=) c.616C>A (p.Arg206=) | |
14 | g.53950785A>C | CA486658566 | BMP4 | c.474T>G (p.Leu158=) c.332T>G (n.332T>G) c.285T>G (p.Leu95=) c.615T>G (p.Leu205=) | gnomAD v4 |
14 | g.53950785A>G | CA486658567 | BMP4 | c.474T>C (p.Leu158=) c.332T>C (n.332T>C) c.285T>C (p.Leu95=) c.615T>C (p.Leu205=) | |
14 | g.53950785A>T | CA486658568 | BMP4 | c.474T>A (p.Leu158=) c.332T>A (n.332T>A) c.285T>A (p.Leu95=) c.615T>A (p.Leu205=) | |
14 | g.53950786A>C | CA389784619 | BMP4 | c.473T>G (p.Leu158Arg) c.331T>G (n.331T>G) c.284T>G (p.Leu95Arg) c.614T>G (p.Leu205Arg) | |
14 | g.53950786A>G | CA389784620 | BMP4 | c.473T>C (p.Leu158Pro) c.331T>C (n.331T>C) c.284T>C (p.Leu95Pro) c.614T>C (p.Leu205Pro) | |
14 | g.53950786A>T | CA389784621 | BMP4 | c.473T>A (p.Leu158His) c.331T>A (n.331T>A) c.284T>A (p.Leu95His) c.614T>A (p.Leu205His) | |
14 | g.53950787G>A | CA389784622 | BMP4 | c.472C>T (p.Leu158Phe) c.330C>T (n.330C>T) c.283C>T (p.Leu95Phe) c.613C>T (p.Leu205Phe) | |
14 | g.53950787G>C | CA389784623 | BMP4 | c.472C>G (p.Leu158Val) c.330C>G (n.330C>G) c.283C>G (p.Leu95Val) c.613C>G (p.Leu205Val) | |
14 | g.53950787G>T | CA389784624 | BMP4 | c.472C>A (p.Leu158Ile) c.330C>A (n.330C>A) c.283C>A (p.Leu95Ile) c.613C>A (p.Leu205Ile) | gnomAD v4 |
14 | g.53950788C>A | CA389784625 | BMP4 | c.471G>T (p.Glu157Asp) c.329G>T (n.329G>T) c.282G>T (p.Glu94Asp) c.612G>T (p.Glu204Asp) | |
14 | g.53950788C>G | CA389784626 | BMP4 | c.471G>C (p.Glu157Asp) c.329G>C (n.329G>C) c.282G>C (p.Glu94Asp) c.612G>C (p.Glu204Asp) | |
14 | g.53950788C>T | CA486658570 | BMP4 | c.471G>A (p.Glu157=) c.329G>A (n.329G>A) c.282G>A (p.Glu94=) c.612G>A (p.Glu204=) | |
14 | g.53950789T>A | CA389784629 | BMP4 | c.470A>T (p.Glu157Val) c.328A>T (n.328A>T) c.281A>T (p.Glu94Val) c.611A>T (p.Glu204Val) | gnomAD v4 |
14 | g.53950789T>C | CA389784627 | BMP4 | c.470A>G (p.Glu157Gly) c.328A>G (n.328A>G) c.281A>G (p.Glu94Gly) c.611A>G (p.Glu204Gly) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.53950789T>G | CA389784628 | BMP4 | c.470A>C (p.Glu157Ala) c.328A>C (n.328A>C) c.281A>C (p.Glu94Ala) c.611A>C (p.Glu204Ala) | |
14 | g.53950789T= | CA2137817803 | BMP4 | c.470A= (p.Glu157=) c.328A= (n.328A=) c.281A= (p.Glu94=) c.611A= (p.Glu204=) | |
14 | g.53950790C>A | CA389784630 | BMP4 | c.469G>T (p.Glu157Ter) c.327G>T (n.327G>T) c.280G>T (p.Glu94Ter) c.610G>T (p.Glu204Ter) | |
14 | g.53950790C= | CA2137817805 | BMP4 | c.469G= (p.Glu157=) c.327G= (n.327G=) c.280G= (p.Glu94=) c.610G= (p.Glu204=) | |
14 | g.53950790C>G | CA389784631 | BMP4 | c.469G>C (p.Glu157Gln) c.327G>C (n.327G>C) c.280G>C (p.Glu94Gln) c.610G>C (p.Glu204Gln) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.53950790C>T | CA389784632 | BMP4 | c.469G>A (p.Glu157Lys) c.327G>A (n.327G>A) c.280G>A (p.Glu94Lys) c.610G>A (p.Glu204Lys) | |
14 | g.53950791T>A | CA486658573 | BMP4 | c.468A>T (p.Ala156=) c.326A>T (n.326A>T) c.279A>T (p.Ala93=) c.609A>T (p.Ala203=) | |
14 | g.53950791T>C | CA486658574 | BMP4 | c.468A>G (p.Ala156=) c.326A>G (n.326A>G) c.279A>G (p.Ala93=) c.609A>G (p.Ala203=) | |
14 | g.53950791T>G | CA486658575 | BMP4 | c.468A>C (p.Ala156=) c.326A>C (n.326A>C) c.279A>C (p.Ala93=) c.609A>C (p.Ala203=) | |
14 | g.53950792G>A | CA389784633 | BMP4 | c.467C>T (p.Ala156Val) c.325C>T (n.325C>T) c.278C>T (p.Ala93Val) c.608C>T (p.Ala203Val) | |
14 | g.53950792G>C | CA389784634 | BMP4 | c.467C>G (p.Ala156Gly) c.325C>G (n.325C>G) c.278C>G (p.Ala93Gly) c.608C>G (p.Ala203Gly) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.53950792G= | CA2137817808 | BMP4 | c.467C= (p.Ala156=) c.325C= (n.325C=) c.278C= (p.Ala93=) c.608C= (p.Ala203=) | |
14 | g.53950792G>T | CA389784635 | BMP4 | c.467C>A (p.Ala156Glu) c.325C>A (n.325C>A) c.278C>A (p.Ala93Glu) c.608C>A (p.Ala203Glu) | gnomAD v4 |
14 | g.53950793C>A | CA389784636 | BMP4 | c.466G>T (p.Ala156Ser) c.324G>T (n.324G>T) c.277G>T (p.Ala93Ser) c.607G>T (p.Ala203Ser) | |
14 | g.53950793C= | CA2137817810 | BMP4 | c.466G= (p.Ala156=) c.324G= (n.324G=) c.277G= (p.Ala93=) c.607G= (p.Ala203=) | |
14 | g.53950793C>G | CA389784637 | BMP4 | c.466G>C (p.Ala156Pro) c.324G>C (n.324G>C) c.277G>C (p.Ala93Pro) c.607G>C (p.Ala203Pro) | |
14 | g.53950793C>T | CA389784638 | BMP4 | c.466G>A (p.Ala156Thr) c.324G>A (n.324G>A) c.277G>A (p.Ala93Thr) c.607G>A (p.Ala203Thr) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.53950794A= | CA2137817812 | BMP4 | c.465T= (p.Ser155=) c.323T= (n.323T=) c.276T= (p.Ser92=) c.606T= (p.Ser202=) | |
14 | g.53950794A>C | CA486658579 | BMP4 | c.465T>G (p.Ser155=) c.323T>G (n.323T>G) c.276T>G (p.Ser92=) c.606T>G (p.Ser202=) | |
14 | g.53950794A>G | CA486658580 | BMP4 | c.465T>C (p.Ser155=) c.323T>C (n.323T>C) c.276T>C (p.Ser92=) c.606T>C (p.Ser202=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.53950794A>T | CA486658581 | BMP4 | c.465T>A (p.Ser155=) c.323T>A (n.323T>A) c.276T>A (p.Ser92=) c.606T>A (p.Ser202=) | |
14 | g.53950795G>A | CA389784639 | BMP4 | c.464C>T (p.Ser155Phe) c.322C>T (n.322C>T) c.275C>T (p.Ser92Phe) c.605C>T (p.Ser202Phe) | gnomAD v4 COSMIC |
14 | g.53950795G>C | CA389784640 | BMP4 | c.464C>G (p.Ser155Cys) c.322C>G (n.322C>G) c.275C>G (p.Ser92Cys) c.605C>G (p.Ser202Cys) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
14 | g.53950795G= | CA2137817814 | BMP4 | c.464C= (p.Ser155=) c.322C= (n.322C=) c.275C= (p.Ser92=) c.605C= (p.Ser202=) | |
14 | g.53950795G>T | CA389784641 | BMP4 | c.464C>A (p.Ser155Tyr) c.322C>A (n.322C>A) c.275C>A (p.Ser92Tyr) c.605C>A (p.Ser202Tyr) | |
14 | g.53950796A>C | CA389784643 | BMP4 | c.463T>G (p.Ser155Ala) c.321T>G (n.321T>G) c.274T>G (p.Ser92Ala) c.604T>G (p.Ser202Ala) | COSMIC |
14 | g.53950796A>G | CA389784644 | BMP4 | c.463T>C (p.Ser155Pro) c.321T>C (n.321T>C) c.274T>C (p.Ser92Pro) c.604T>C (p.Ser202Pro) | |
14 | g.53950796A>T | CA389784642 | BMP4 | c.463T>A (p.Ser155Thr) c.321T>A (n.321T>A) c.274T>A (p.Ser92Thr) c.604T>A (p.Ser202Thr) | |
14 | g.53950797G>A | CA486658585 | BMP4 | c.462C>T (p.Ser154=) c.320C>T (n.320C>T) c.273C>T (p.Ser91=) c.603C>T (p.Ser201=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.53950797G>C | CA486658586 | BMP4 | c.462C>G (p.Ser154=) c.320C>G (n.320C>G) c.273C>G (p.Ser91=) c.603C>G (p.Ser201=) | |
14 | g.53950797G= | CA2137817816 | BMP4 | c.462C= (p.Ser154=) c.320C= (n.320C=) c.273C= (p.Ser91=) c.603C= (p.Ser201=) | |
14 | g.53950797G>T | CA486658587 | BMP4 | c.462C>A (p.Ser154=) c.320C>A (n.320C>A) c.273C>A (p.Ser91=) c.603C>A (p.Ser201=) | |
14 | g.53950798G>A | CA261472679 | BMP4 | c.461C>T (p.Ser154Phe) c.319C>T (n.319C>T) c.272C>T (p.Ser91Phe) c.602C>T (p.Ser201Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53950798G>C | CA389784645 | BMP4 | c.461C>G (p.Ser154Cys) c.319C>G (n.319C>G) c.272C>G (p.Ser91Cys) c.602C>G (p.Ser201Cys) | |
14 | g.53950798G= | CA2137817820 | BMP4 | c.461C= (p.Ser154=) c.319C= (n.319C=) c.272C= (p.Ser91=) c.602C= (p.Ser201=) | |
14 | g.53950798G>T | CA389784646 | BMP4 | c.461C>A (p.Ser154Tyr) c.319C>A (n.319C>A) c.272C>A (p.Ser91Tyr) c.602C>A (p.Ser201Tyr) | |
14 | g.53950799A>C | CA389784647 | BMP4 | c.460T>G (p.Ser154Ala) c.318T>G (n.318T>G) c.271T>G (p.Ser91Ala) c.601T>G (p.Ser201Ala) | |
14 | g.53950799A>G | CA389784648 | BMP4 | c.460T>C (p.Ser154Pro) c.318T>C (n.318T>C) c.271T>C (p.Ser91Pro) c.601T>C (p.Ser201Pro) | |
14 | g.53950799A>T | CA389784649 | BMP4 | c.460T>A (p.Ser154Thr) c.318T>A (n.318T>A) c.271T>A (p.Ser91Thr) c.601T>A (p.Ser201Thr) | |
14 | g.53950800G>A | CA486658590 | BMP4 | c.459C>T (p.Ile153=) c.317C>T (n.317C>T) c.270C>T (p.Ile90=) c.600C>T (p.Ile200=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53950800G>C | CA389784650 | BMP4 | c.459C>G (p.Ile153Met) c.317C>G (n.317C>G) c.270C>G (p.Ile90Met) c.600C>G (p.Ile200Met) | |
14 | g.53950800G= | CA2137817825 | BMP4 | c.459C= (p.Ile153=) c.317C= (n.317C=) c.270C= (p.Ile90=) c.600C= (p.Ile200=) | |
14 | g.53950800G>T | CA486658592 | BMP4 | c.459C>A (p.Ile153=) c.317C>A (n.317C>A) c.270C>A (p.Ile90=) c.600C>A (p.Ile200=) | |
14 | g.53950801A>C | CA389784651 | BMP4 | c.458T>G (p.Ile153Ser) c.316T>G (n.316T>G) c.269T>G (p.Ile90Ser) c.599T>G (p.Ile200Ser) | |
14 | g.53950801A>G | CA389784653 | BMP4 | c.458T>C (p.Ile153Thr) c.316T>C (n.316T>C) c.269T>C (p.Ile90Thr) c.599T>C (p.Ile200Thr) | COSMIC |
14 | g.53950801A>T | CA389784652 | BMP4 | c.458T>A (p.Ile153Asn) c.316T>A (n.316T>A) c.269T>A (p.Ile90Asn) c.599T>A (p.Ile200Asn) | |
14 | g.53950802T>A | CA389784654 | BMP4 | c.457A>T (p.Ile153Phe) c.315A>T (p.Ter105Cys) c.268A>T (p.Ile90Phe) c.598A>T (p.Ile200Phe) | |
14 | g.53950802T>C | CA389784655 | BMP4 | c.457A>G (p.Ile153Val) c.315A>G (p.Ter105Trp) c.268A>G (p.Ile90Val) c.598A>G (p.Ile200Val) | |
14 | g.53950802T>G | CA389784656 | BMP4 | c.457A>C (p.Ile153Leu) c.315A>C (p.Ter105Cys) c.268A>C (p.Ile90Leu) c.598A>C (p.Ile200Leu) | |
14 | g.53950803C>A | CA389784657 | BMP4 | c.456G>T (p.Val152=) c.314G>T (p.Ter105Leu) c.267G>T (p.Val89=) c.597G>T (p.Val199=) | gnomAD v4 |
14 | g.53950803C= | CA2137817827 | BMP4 | c.456G= (p.Val152=) c.314G= (p.Ter105=) c.267G= (p.Val89=) c.597G= (p.Val199=) | |
14 | g.53950803C>G | CA389784658 | BMP4 | c.456G>C (p.Val152=) c.314G>C (p.Ter105Ser) c.267G>C (p.Val89=) c.597G>C (p.Val199=) | |
14 | g.53950803C>T | CA486658599 | BMP4 | c.456G>A (p.Val152=) c.314G>A (p.Ter105=) c.267G>A (p.Val89=) c.597G>A (p.Val199=) | dbSNP gnomAD v4 |
14 | g.53950804A= | CA2137817830 | BMP4 | c.455T= (p.Val152=) c.313T= (p.Ter105=) c.266T= (p.Val89=) c.596T= (p.Val199=) | |
14 | g.53950804A>C | CA389784659 | BMP4 | c.455T>G (p.Val152Gly) c.313T>G (p.Ter105Gly) c.266T>G (p.Val89Gly) c.596T>G (p.Val199Gly) | |
14 | g.53950804A>G | CA202736 | BMP4 | c.455T>C (p.Val152Ala) c.313T>C (p.Ter105Arg) c.266T>C (p.Val89Ala) c.596T>C (p.Val199Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53950804A>T | CA389784660 | BMP4 | c.455T>A (p.Val152Glu) c.313T>A (p.Ter105Arg) c.266T>A (p.Val89Glu) c.596T>A (p.Val199Glu) | gnomAD v4 |
14 | g.53950804_53950805insAGAGCCGAAGCTCTGCAGAGGAGATCG | CA963264511 | BMP4 | c.454_455insCGATCTCCTCTGCAGAGCTTCGGCTCT (p.Val152delinsAlaIleSerSerAlaGluLeuArgLeuLeu) c.312_313insCGATCTCCTCTGCAGAGCTTCGGCTCT (p.Arg104_Ter105insArgSerProLeuGlnSerPheGlySer) c.265_266insCGATCTCCTCTGCAGAGCTTCGGCTCT (p.Val89delinsAlaIleSerSerAlaGluLeuArgLeuLeu) c.595_596insCGATCTCCTCTGCAGAGCTTCGGCTCT (p.Val199delinsAlaIleSerSerAlaGluLeuArgLeuLeu) | gnomAD v3 gnomAD v4 |
14 | g.53950805C>A | CA389784661 | BMP4 | c.454G>T (p.Val152Leu) c.312G>T (p.Arg104Ser) c.265G>T (p.Val89Leu) c.595G>T (p.Val199Leu) | dbSNP |
14 | g.53950805C= | CA2137817836 | BMP4 | c.454G= (p.Val152=) c.312G= (p.Arg104=) c.265G= (p.Val89=) c.595G= (p.Val199=) | |
14 | g.53950805C>G | CA389784662 | BMP4 | c.454G>C (p.Val152Leu) c.312G>C (p.Arg104Ser) c.265G>C (p.Val89Leu) c.595G>C (p.Val199Leu) | |
14 | g.53950805C>T | CA389784663 | BMP4 | c.454G>A (p.Val152Met) c.312G>A (p.Arg104=) c.265G>A (p.Val89Met) c.595G>A (p.Val199Met) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.53950806C>A | CA389784664 | BMP4 | c.453G>T (p.Glu151Asp) c.311G>T (p.Arg104Met) c.264G>T (p.Glu88Asp) c.594G>T (p.Glu198Asp) | |
14 | g.53950806C>G | CA389784665 | BMP4 | c.453G>C (p.Glu151Asp) c.311G>C (p.Arg104Thr) c.264G>C (p.Glu88Asp) c.594G>C (p.Glu198Asp) | |
14 | g.53950806C>T | CA389784666 | BMP4 | c.453G>A (p.Glu151=) c.311G>A (p.Arg104Lys) c.264G>A (p.Glu88=) c.594G>A (p.Glu198=) | |
14 | g.53950807T>A | CA389784667 | BMP4 | c.452A>T (p.Glu151Val) c.310A>T (p.Arg104Trp) c.263A>T (p.Glu88Val) c.593A>T (p.Glu198Val) | ClinVar |
14 | g.53950807T>C | CA389784668 | BMP4 | c.452A>G (p.Glu151Gly) c.310A>G (p.Arg104Gly) c.263A>G (p.Glu88Gly) c.593A>G (p.Glu198Gly) | |
14 | g.53950807T>G | CA389784669 | BMP4 | c.452A>C (p.Glu151Ala) c.310A>C (p.Arg104=) c.263A>C (p.Glu88Ala) c.593A>C (p.Glu198Ala) | |
14 | g.53950808C>A | CA389784670 | BMP4 | c.451G>T (p.Glu151Ter) c.309G>T (p.Thr103=) c.262G>T (p.Glu88Ter) c.592G>T (p.Glu198Ter) | |
14 | g.53950808C>G | CA389784671 | BMP4 | c.451G>C (p.Glu151Gln) c.309G>C (p.Thr103=) c.262G>C (p.Glu88Gln) c.592G>C (p.Glu198Gln) | gnomAD v4 |
14 | g.53950808C>T | CA389784672 | BMP4 | c.451G>A (p.Glu151Lys) c.309G>A (p.Thr103=) c.262G>A (p.Glu88Lys) c.592G>A (p.Glu198Lys) | ClinVar COSMIC |
14 | g.53950809G>A | CA7191733 | BMP4 | c.450C>T (p.Asn150=) c.308C>T (p.Thr103Met) c.261C>T (p.Asn87=) c.591C>T (p.Asn197=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.53950809G>C | CA7191734 | BMP4 | c.450C>G (p.Asn150Lys) c.308C>G (p.Thr103Arg) c.261C>G (p.Asn87Lys) c.591C>G (p.Asn197Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.53950809G= | CA2137817848 | BMP4 | c.450C= (p.Asn150=) c.308C= (p.Thr103=) c.261C= (p.Asn87=) c.591C= (p.Asn197=) | |
14 | g.53950809G>T | CA389784673 | BMP4 | c.450C>A (p.Asn150Lys) c.308C>A (p.Thr103Lys) c.261C>A (p.Asn87Lys) c.591C>A (p.Asn197Lys) | |
14 | g.53950810T>A | CA389784674 | BMP4 | c.449A>T (p.Asn150Ile) c.307A>T (p.Thr103Ser) c.260A>T (p.Asn87Ile) c.590A>T (p.Asn197Ile) | |
14 | g.53950810T>C | CA389784676 | BMP4 | c.449A>G (p.Asn150Ser) c.307A>G (p.Thr103Ala) c.260A>G (p.Asn87Ser) c.590A>G (p.Asn197Ser) | |
14 | g.53950810T>G | CA389784675 | BMP4 | c.449A>C (p.Asn150Thr) c.307A>C (p.Thr103Pro) c.260A>C (p.Asn87Thr) c.590A>C (p.Asn197Thr) | |
14 | g.53950811T>A | CA389784677 | BMP4 | c.448A>T (p.Asn150Tyr) c.306A>T (p.Arg102Ser) c.259A>T (p.Asn87Tyr) c.589A>T (p.Asn197Tyr) | |
14 | g.53950811T>C | CA389784679 | BMP4 | c.448A>G (p.Asn150Asp) c.306A>G (p.Arg102=) c.259A>G (p.Asn87Asp) c.589A>G (p.Asn197Asp) | |
14 | g.53950811T>G | CA389784678 | BMP4 | c.448A>C (p.Asn150His) c.306A>C (p.Arg102Ser) c.259A>C (p.Asn87His) c.589A>C (p.Asn197His) | |
14 | g.53950812C>A | CA389784680 | BMP4 | c.447G>T (p.Glu149Asp) c.305G>T (p.Arg102Ile) c.258G>T (p.Glu86Asp) c.588G>T (p.Glu196Asp) | gnomAD v4 |
14 | g.53950812C= | CA2137817855 | BMP4 | c.447G= (p.Glu149=) c.305G= (p.Arg102=) c.258G= (p.Glu86=) c.588G= (p.Glu196=) | |
14 | g.53950812C>G | CA389784681 | BMP4 | c.447G>C (p.Glu149Asp) c.305G>C (p.Arg102Thr) c.258G>C (p.Glu86Asp) c.588G>C (p.Glu196Asp) | |
14 | g.53950812C>T | CA261472680 | BMP4 | c.447G>A (p.Glu149=) c.305G>A (p.Arg102Lys) c.258G>A (p.Glu86=) c.588G>A (p.Glu196=) | dbSNP |
14 | g.53950813T>A | CA389784682 | BMP4 | c.446A>T (p.Glu149Val) c.304A>T (p.Arg102Ter) c.257A>T (p.Glu86Val) c.587A>T (p.Glu196Val) | |
14 | g.53950813T>C | CA389784683 | BMP4 | c.446A>G (p.Glu149Gly) c.304A>G (p.Arg102Gly) c.257A>G (p.Glu86Gly) c.587A>G (p.Glu196Gly) | |
14 | g.53950813T>G | CA389784684 | BMP4 | c.446A>C (p.Glu149Ala) c.304A>C (p.Arg102=) c.257A>C (p.Glu86Ala) c.587A>C (p.Glu196Ala) | |
14 | g.53950814C>A | CA389784685 | BMP4 | c.445G>T (p.Glu149Ter) c.303G>T (p.Leu101=) c.256G>T (p.Glu86Ter) c.586G>T (p.Glu196Ter) | gnomAD v4 |
14 | g.53950814C= | CA2137817860 | BMP4 | c.445G= (p.Glu149=) c.303G= (p.Leu101=) c.256G= (p.Glu86=) c.586G= (p.Glu196=) | |
14 | g.53950814C>G | CA389784686 | BMP4 | c.445G>C (p.Glu149Gln) c.303G>C (p.Leu101=) c.256G>C (p.Glu86Gln) c.586G>C (p.Glu196Gln) | |
14 | g.53950814C>T | CA389784687 | BMP4 | c.445G>A (p.Glu149Lys) c.303G>A (p.Leu101=) c.256G>A (p.Glu86Lys) c.586G>A (p.Glu196Lys) | dbSNP gnomAD v4 |
14 | g.53950815A>C | CA389784688 | BMP4 | c.444T>G (p.Pro148=) c.302T>G (p.Leu101Arg) c.255T>G (p.Pro85=) c.585T>G (p.Pro195=) | gnomAD v4 |
14 | g.53950815A>G | CA389784689 | BMP4 | c.444T>C (p.Pro148=) c.302T>C (p.Leu101Pro) c.255T>C (p.Pro85=) c.585T>C (p.Pro195=) | |
14 | g.53950815A>T | CA389784690 | BMP4 | c.444T>A (p.Pro148=) c.302T>A (p.Leu101Gln) c.255T>A (p.Pro85=) c.585T>A (p.Pro195=) | |
14 | g.53950816G>A | CA389784691 | BMP4 | c.443C>T (p.Pro148Leu) c.301C>T (p.Leu101=) c.254C>T (p.Pro85Leu) c.584C>T (p.Pro195Leu) | |
14 | g.53950816G>C | CA389784692 | BMP4 | c.443C>G (p.Pro148Arg) c.301C>G (p.Leu101Val) c.254C>G (p.Pro85Arg) c.584C>G (p.Pro195Arg) | |
14 | g.53950816G>T | CA389784693 | BMP4 | c.443C>A (p.Pro148His) c.301C>A (p.Leu101Met) c.254C>A (p.Pro85His) c.584C>A (p.Pro195His) | gnomAD v4 |
14 | g.53950818del | CA2624918044 | BMP4 | c.443del (p.Pro148LeufsTer5) c.301del (p.Leu101Ter) c.254del (p.Pro85LeufsTer5) c.584del (p.Pro195LeufsTer5) | gnomAD v4 |
14 | g.53950817G>A | CA7191735 | BMP4 | c.442C>T (p.Pro148Ser) c.300C>T (p.Ser100=) c.253C>T (p.Pro85Ser) c.583C>T (p.Pro195Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.53950817G>C | CA389784695 | BMP4 | c.442C>G (p.Pro148Ala) c.300C>G (p.Ser100=) c.253C>G (p.Pro85Ala) c.583C>G (p.Pro195Ala) | |
14 | g.53950817G= | CA2137817867 | BMP4 | c.442C= (p.Pro148=) c.300C= (p.Ser100=) c.253C= (p.Pro85=) c.583C= (p.Pro195=) | |
14 | g.53950817G>T | CA389784694 | BMP4 | c.442C>A (p.Pro148Thr) c.300C>A (p.Ser100=) c.253C>A (p.Pro85Thr) c.583C>A (p.Pro195Thr) | gnomAD v4 |
14 | g.53950818G>A | CA389784696 | BMP4 | c.441C>T (p.Ile147=) c.299C>T (p.Ser100Phe) c.252C>T (p.Ile84=) c.582C>T (p.Ile194=) | gnomAD v4 |
14 | g.53950818G>C | CA389784697 | BMP4 | c.441C>G (p.Ile147Met) c.299C>G (p.Ser100Cys) c.252C>G (p.Ile84Met) c.582C>G (p.Ile194Met) | |
14 | g.53950818G>T | CA389784698 | BMP4 | c.441C>A (p.Ile147=) c.299C>A (p.Ser100Tyr) c.252C>A (p.Ile84=) c.582C>A (p.Ile194=) | gnomAD v4 |