| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.91887253A= | CA2155153518 | FBLN5 | c.*645T= (n.*645T=) c.511T= (p.Ser171=) c.853T= (p.Ser285=) c.679T= (p.Ser227=) n.599T= c.*522T= (n.*522T=) c.*418T= (n.*418T=) c.802T= (p.Ser268=) c.694T= (p.Ser232=) c.730T= (p.Ser244=) | |
| 14 | g.91887253A>C | CA390642660 | FBLN5 | c.*645T>G (n.*645T>G) c.511T>G (p.Ser171Ala) c.853T>G (p.Ser285Ala) c.679T>G (p.Ser227Ala) n.599T>G c.*522T>G (n.*522T>G) c.*418T>G (n.*418T>G) c.802T>G (p.Ser268Ala) c.694T>G (p.Ser232Ala) c.730T>G (p.Ser244Ala) | |
| 14 | g.91887253A>G | CA340430 | FBLN5 | c.*645T>C (n.*645T>C) c.511T>C (p.Ser171Pro) c.853T>C (p.Ser285Pro) c.679T>C (p.Ser227Pro) n.599T>C c.*522T>C (n.*522T>C) c.*418T>C (n.*418T>C) c.802T>C (p.Ser268Pro) c.694T>C (p.Ser232Pro) c.730T>C (p.Ser244Pro) | ClinVar dbSNP |
| 14 | g.91887253A>T | CA390642661 | FBLN5 | c.*645T>A (n.*645T>A) c.511T>A (p.Ser171Thr) c.853T>A (p.Ser285Thr) c.679T>A (p.Ser227Thr) n.599T>A c.*522T>A (n.*522T>A) c.*418T>A (n.*418T>A) c.802T>A (p.Ser268Thr) c.694T>A (p.Ser232Thr) c.730T>A (p.Ser244Thr) | |
| 14 | g.91887254G>A | CA487567181 | FBLN5 | c.*644C>T (n.*644C>T) c.510C>T (p.Gly170=) c.852C>T (p.Gly284=) c.678C>T (p.Gly226=) n.598C>T c.*521C>T (n.*521C>T) c.*417C>T (n.*417C>T) c.801C>T (p.Gly267=) c.693C>T (p.Gly231=) c.729C>T (p.Gly243=) | |
| 14 | g.91887254G>C | CA487567183 | FBLN5 | c.*644C>G (n.*644C>G) c.510C>G (p.Gly170=) c.852C>G (p.Gly284=) c.678C>G (p.Gly226=) n.598C>G c.*521C>G (n.*521C>G) c.*417C>G (n.*417C>G) c.801C>G (p.Gly267=) c.693C>G (p.Gly231=) c.729C>G (p.Gly243=) | |
| 14 | g.91887254G>T | CA487567182 | FBLN5 | c.*644C>A (n.*644C>A) c.510C>A (p.Gly170=) c.852C>A (p.Gly284=) c.678C>A (p.Gly226=) n.598C>A c.*521C>A (n.*521C>A) c.*417C>A (n.*417C>A) c.801C>A (p.Gly267=) c.693C>A (p.Gly231=) c.729C>A (p.Gly243=) | |
| 14 | g.91887255C>A | CA390642662 | FBLN5 | c.*643G>T (n.*643G>T) c.509G>T (p.Gly170Val) c.851G>T (p.Gly284Val) c.677G>T (p.Gly226Val) n.597G>T c.*520G>T (n.*520G>T) c.*416G>T (n.*416G>T) c.800G>T (p.Gly267Val) c.692G>T (p.Gly231Val) c.728G>T (p.Gly243Val) | gnomAD v4 |
| 14 | g.91887255C>G | CA390642663 | FBLN5 | c.*643G>C (n.*643G>C) c.509G>C (p.Gly170Ala) c.851G>C (p.Gly284Ala) c.677G>C (p.Gly226Ala) n.597G>C c.*520G>C (n.*520G>C) c.*416G>C (n.*416G>C) c.800G>C (p.Gly267Ala) c.692G>C (p.Gly231Ala) c.728G>C (p.Gly243Ala) | |
| 14 | g.91887255C>T | CA390642664 | FBLN5 | c.*643G>A (n.*643G>A) c.509G>A (p.Gly170Asp) c.851G>A (p.Gly284Asp) c.677G>A (p.Gly226Asp) n.597G>A c.*520G>A (n.*520G>A) c.*416G>A (n.*416G>A) c.800G>A (p.Gly267Asp) c.692G>A (p.Gly231Asp) c.728G>A (p.Gly243Asp) | |
| 14 | g.91887256C>A | CA390642665 | FBLN5 | c.*642G>T (n.*642G>T) c.508G>T (p.Gly170Cys) c.850G>T (p.Gly284Cys) c.676G>T (p.Gly226Cys) n.596G>T c.*519G>T (n.*519G>T) c.*415G>T (n.*415G>T) c.799G>T (p.Gly267Cys) c.691G>T (p.Gly231Cys) c.727G>T (p.Gly243Cys) | |
| 14 | g.91887256C= | CA2155153522 | FBLN5 | c.*642G= (n.*642G=) c.508G= (p.Gly170=) c.850G= (p.Gly284=) c.676G= (p.Gly226=) n.596G= c.*519G= (n.*519G=) c.*415G= (n.*415G=) c.799G= (p.Gly267=) c.691G= (p.Gly231=) c.727G= (p.Gly243=) | |
| 14 | g.91887256C>G | CA390642666 | FBLN5 | c.*642G>C (n.*642G>C) c.508G>C (p.Gly170Arg) c.850G>C (p.Gly284Arg) c.676G>C (p.Gly226Arg) n.596G>C c.*519G>C (n.*519G>C) c.*415G>C (n.*415G>C) c.799G>C (p.Gly267Arg) c.691G>C (p.Gly231Arg) c.727G>C (p.Gly243Arg) | gnomAD v4 |
| 14 | g.91887256C>T | CA7312762 | FBLN5 | c.*642G>A (n.*642G>A) c.508G>A (p.Gly170Ser) c.850G>A (p.Gly284Ser) c.676G>A (p.Gly226Ser) n.596G>A c.*519G>A (n.*519G>A) c.*415G>A (n.*415G>A) c.799G>A (p.Gly267Ser) c.691G>A (p.Gly231Ser) c.727G>A (p.Gly243Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91887257G>A | CA7312763 | FBLN5 | c.*641C>T (n.*641C>T) c.507C>T (p.Tyr169=) c.849C>T (p.Tyr283=) c.675C>T (p.Tyr225=) n.595C>T c.*518C>T (n.*518C>T) c.*414C>T (n.*414C>T) c.798C>T (p.Tyr266=) c.690C>T (p.Tyr230=) c.726C>T (p.Tyr242=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91887257G>C | CA390642667 | FBLN5 | c.*641C>G (n.*641C>G) c.507C>G (p.Tyr169Ter) c.849C>G (p.Tyr283Ter) c.675C>G (p.Tyr225Ter) n.595C>G c.*518C>G (n.*518C>G) c.*414C>G (n.*414C>G) c.798C>G (p.Tyr266Ter) c.690C>G (p.Tyr230Ter) c.726C>G (p.Tyr242Ter) | |
| 14 | g.91887257G= | CA2155153530 | FBLN5 | c.*641C= (n.*641C=) c.507C= (p.Tyr169=) c.849C= (p.Tyr283=) c.675C= (p.Tyr225=) n.595C= c.*518C= (n.*518C=) c.*414C= (n.*414C=) c.798C= (p.Tyr266=) c.690C= (p.Tyr230=) c.726C= (p.Tyr242=) | |
| 14 | g.91887257G>T | CA390642668 | FBLN5 | c.*641C>A (n.*641C>A) c.507C>A (p.Tyr169Ter) c.849C>A (p.Tyr283Ter) c.675C>A (p.Tyr225Ter) n.595C>A c.*518C>A (n.*518C>A) c.*414C>A (n.*414C>A) c.798C>A (p.Tyr266Ter) c.690C>A (p.Tyr230Ter) c.726C>A (p.Tyr242Ter) | |
| 14 | g.91887258T>A | CA390642669 | FBLN5 | c.*640A>T (n.*640A>T) c.506A>T (p.Tyr169Phe) c.848A>T (p.Tyr283Phe) c.674A>T (p.Tyr225Phe) n.594A>T c.*517A>T (n.*517A>T) c.*413A>T (n.*413A>T) c.797A>T (p.Tyr266Phe) c.689A>T (p.Tyr230Phe) c.725A>T (p.Tyr242Phe) | COSMIC |
| 14 | g.91887258T>C | CA390642671 | FBLN5 | c.*640A>G (n.*640A>G) c.506A>G (p.Tyr169Cys) c.848A>G (p.Tyr283Cys) c.674A>G (p.Tyr225Cys) n.594A>G c.*517A>G (n.*517A>G) c.*413A>G (n.*413A>G) c.797A>G (p.Tyr266Cys) c.689A>G (p.Tyr230Cys) c.725A>G (p.Tyr242Cys) | |
| 14 | g.91887258T>G | CA390642670 | FBLN5 | c.*640A>C (n.*640A>C) c.506A>C (p.Tyr169Ser) c.848A>C (p.Tyr283Ser) c.674A>C (p.Tyr225Ser) n.594A>C c.*517A>C (n.*517A>C) c.*413A>C (n.*413A>C) c.797A>C (p.Tyr266Ser) c.689A>C (p.Tyr230Ser) c.725A>C (p.Tyr242Ser) | |
| 14 | g.91887259A>C | CA390642672 | FBLN5 | c.*639T>G (n.*639T>G) c.505T>G (p.Tyr169Asp) c.847T>G (p.Tyr283Asp) c.673T>G (p.Tyr225Asp) n.593T>G c.*516T>G (n.*516T>G) c.*412T>G (n.*412T>G) c.796T>G (p.Tyr266Asp) c.688T>G (p.Tyr230Asp) c.724T>G (p.Tyr242Asp) | |
| 14 | g.91887259A>G | CA390642673 | FBLN5 | c.*639T>C (n.*639T>C) c.505T>C (p.Tyr169His) c.847T>C (p.Tyr283His) c.673T>C (p.Tyr225His) n.593T>C c.*516T>C (n.*516T>C) c.*412T>C (n.*412T>C) c.796T>C (p.Tyr266His) c.688T>C (p.Tyr230His) c.724T>C (p.Tyr242His) | gnomAD v4 |
| 14 | g.91887259A>T | CA390642674 | FBLN5 | c.*639T>A (n.*639T>A) c.505T>A (p.Tyr169Asn) c.847T>A (p.Tyr283Asn) c.673T>A (p.Tyr225Asn) n.593T>A c.*516T>A (n.*516T>A) c.*412T>A (n.*412T>A) c.796T>A (p.Tyr266Asn) c.688T>A (p.Tyr230Asn) c.724T>A (p.Tyr242Asn) | |
| 14 | g.91887260G>A | CA487567184 | FBLN5 | c.*638C>T (n.*638C>T) c.504C>T (p.Thr168=) c.846C>T (p.Thr282=) c.672C>T (p.Thr224=) n.592C>T c.*515C>T (n.*515C>T) c.*411C>T (n.*411C>T) c.795C>T (p.Thr265=) c.687C>T (p.Thr229=) c.723C>T (p.Thr241=) | |
| 14 | g.91887260G>C | CA487567186 | FBLN5 | c.*638C>G (n.*638C>G) c.504C>G (p.Thr168=) c.846C>G (p.Thr282=) c.672C>G (p.Thr224=) n.592C>G c.*515C>G (n.*515C>G) c.*411C>G (n.*411C>G) c.795C>G (p.Thr265=) c.687C>G (p.Thr229=) c.723C>G (p.Thr241=) | |
| 14 | g.91887260G>T | CA487567185 | FBLN5 | c.*638C>A (n.*638C>A) c.504C>A (p.Thr168=) c.846C>A (p.Thr282=) c.672C>A (p.Thr224=) n.592C>A c.*515C>A (n.*515C>A) c.*411C>A (n.*411C>A) c.795C>A (p.Thr265=) c.687C>A (p.Thr229=) c.723C>A (p.Thr241=) | gnomAD v4 |
| 14 | g.91887261G>A | CA390642675 | FBLN5 | c.*637C>T (n.*637C>T) c.503C>T (p.Thr168Ile) c.845C>T (p.Thr282Ile) c.671C>T (p.Thr224Ile) n.591C>T c.*514C>T (n.*514C>T) c.*410C>T (n.*410C>T) c.794C>T (p.Thr265Ile) c.686C>T (p.Thr229Ile) c.722C>T (p.Thr241Ile) | gnomAD v4 |
| 14 | g.91887261G>C | CA390642676 | FBLN5 | c.*637C>G (n.*637C>G) c.503C>G (p.Thr168Ser) c.845C>G (p.Thr282Ser) c.671C>G (p.Thr224Ser) n.591C>G c.*514C>G (n.*514C>G) c.*410C>G (n.*410C>G) c.794C>G (p.Thr265Ser) c.686C>G (p.Thr229Ser) c.722C>G (p.Thr241Ser) | |
| 14 | g.91887261G>T | CA390642677 | FBLN5 | c.*637C>A (n.*637C>A) c.503C>A (p.Thr168Asn) c.845C>A (p.Thr282Asn) c.671C>A (p.Thr224Asn) n.591C>A c.*514C>A (n.*514C>A) c.*410C>A (n.*410C>A) c.794C>A (p.Thr265Asn) c.686C>A (p.Thr229Asn) c.722C>A (p.Thr241Asn) | |
| 14 | g.91887262T>A | CA390642680 | FBLN5 | c.*636A>T (n.*636A>T) c.502A>T (p.Thr168Ser) c.844A>T (p.Thr282Ser) c.670A>T (p.Thr224Ser) n.590A>T c.*513A>T (n.*513A>T) c.*409A>T (n.*409A>T) c.793A>T (p.Thr265Ser) c.685A>T (p.Thr229Ser) c.721A>T (p.Thr241Ser) | dbSNP gnomAD v4 |
| 14 | g.91887262T>C | CA390642678 | FBLN5 | c.*636A>G (n.*636A>G) c.502A>G (p.Thr168Ala) c.844A>G (p.Thr282Ala) c.670A>G (p.Thr224Ala) n.590A>G c.*513A>G (n.*513A>G) c.*409A>G (n.*409A>G) c.793A>G (p.Thr265Ala) c.685A>G (p.Thr229Ala) c.721A>G (p.Thr241Ala) | dbSNP |
| 14 | g.91887262T>G | CA390642679 | FBLN5 | c.*636A>C (n.*636A>C) c.502A>C (p.Thr168Pro) c.844A>C (p.Thr282Pro) c.670A>C (p.Thr224Pro) n.590A>C c.*513A>C (n.*513A>C) c.*409A>C (n.*409A>C) c.793A>C (p.Thr265Pro) c.685A>C (p.Thr229Pro) c.721A>C (p.Thr241Pro) | |
| 14 | g.91887262T= | CA2155153534 | FBLN5 | c.*636A= (n.*636A=) c.502A= (p.Thr168=) c.844A= (p.Thr282=) c.670A= (p.Thr224=) n.590A= c.*513A= (n.*513A=) c.*409A= (n.*409A=) c.793A= (p.Thr265=) c.685A= (p.Thr229=) c.721A= (p.Thr241=) | |
| 14 | g.91887263G>A | CA487567187 | FBLN5 | c.*635C>T (n.*635C>T) c.501C>T (p.Asn167=) c.843C>T (p.Asn281=) c.669C>T (p.Asn223=) n.589C>T c.*512C>T (n.*512C>T) c.*408C>T (n.*408C>T) c.792C>T (p.Asn264=) c.684C>T (p.Asn228=) c.720C>T (p.Asn240=) | gnomAD v4 |
| 14 | g.91887263G>C | CA390642681 | FBLN5 | c.*635C>G (n.*635C>G) c.501C>G (p.Asn167Lys) c.843C>G (p.Asn281Lys) c.669C>G (p.Asn223Lys) n.589C>G c.*512C>G (n.*512C>G) c.*408C>G (n.*408C>G) c.792C>G (p.Asn264Lys) c.684C>G (p.Asn228Lys) c.720C>G (p.Asn240Lys) | |
| 14 | g.91887263G>T | CA390642682 | FBLN5 | c.*635C>A (n.*635C>A) c.501C>A (p.Asn167Lys) c.843C>A (p.Asn281Lys) c.669C>A (p.Asn223Lys) n.589C>A c.*512C>A (n.*512C>A) c.*408C>A (n.*408C>A) c.792C>A (p.Asn264Lys) c.684C>A (p.Asn228Lys) c.720C>A (p.Asn240Lys) | |
| 14 | g.91887264T>A | CA390642683 | FBLN5 | c.*634A>T (n.*634A>T) c.500A>T (p.Asn167Ile) c.842A>T (p.Asn281Ile) c.668A>T (p.Asn223Ile) n.588A>T c.*511A>T (n.*511A>T) c.*407A>T (n.*407A>T) c.791A>T (p.Asn264Ile) c.683A>T (p.Asn228Ile) c.719A>T (p.Asn240Ile) | |
| 14 | g.91887264T>C | CA390642684 | FBLN5 | c.*634A>G (n.*634A>G) c.500A>G (p.Asn167Ser) c.842A>G (p.Asn281Ser) c.668A>G (p.Asn223Ser) n.588A>G c.*511A>G (n.*511A>G) c.*407A>G (n.*407A>G) c.791A>G (p.Asn264Ser) c.683A>G (p.Asn228Ser) c.719A>G (p.Asn240Ser) | |
| 14 | g.91887264T>G | CA390642685 | FBLN5 | c.*634A>C (n.*634A>C) c.500A>C (p.Asn167Thr) c.842A>C (p.Asn281Thr) c.668A>C (p.Asn223Thr) n.588A>C c.*511A>C (n.*511A>C) c.*407A>C (n.*407A>C) c.791A>C (p.Asn264Thr) c.683A>C (p.Asn228Thr) c.719A>C (p.Asn240Thr) | |
| 14 | g.91887265T>A | CA390642688 | FBLN5 | c.*633A>T (n.*633A>T) c.499A>T (p.Asn167Tyr) c.841A>T (p.Asn281Tyr) c.667A>T (p.Asn223Tyr) n.587A>T c.*510A>T (n.*510A>T) c.*406A>T (n.*406A>T) c.790A>T (p.Asn264Tyr) c.682A>T (p.Asn228Tyr) c.718A>T (p.Asn240Tyr) | |
| 14 | g.91887265T>C | CA390642686 | FBLN5 | c.*633A>G (n.*633A>G) c.499A>G (p.Asn167Asp) c.841A>G (p.Asn281Asp) c.667A>G (p.Asn223Asp) n.587A>G c.*510A>G (n.*510A>G) c.*406A>G (n.*406A>G) c.790A>G (p.Asn264Asp) c.682A>G (p.Asn228Asp) c.718A>G (p.Asn240Asp) | |
| 14 | g.91887265T>G | CA390642687 | FBLN5 | c.*633A>C (n.*633A>C) c.499A>C (p.Asn167His) c.841A>C (p.Asn281His) c.667A>C (p.Asn223His) n.587A>C c.*510A>C (n.*510A>C) c.*406A>C (n.*406A>C) c.790A>C (p.Asn264His) c.682A>C (p.Asn228His) c.718A>C (p.Asn240His) | |
| 14 | g.91887266G>A | CA487567188 | FBLN5 | c.*632C>T (n.*632C>T) c.498C>T (p.Val166=) c.840C>T (p.Val280=) c.666C>T (p.Val222=) n.586C>T c.*509C>T (n.*509C>T) c.*405C>T (n.*405C>T) c.789C>T (p.Val263=) c.681C>T (p.Val227=) c.717C>T (p.Val239=) | ClinVar |
| 14 | g.91887266G>C | CA487567189 | FBLN5 | c.*632C>G (n.*632C>G) c.498C>G (p.Val166=) c.840C>G (p.Val280=) c.666C>G (p.Val222=) n.586C>G c.*509C>G (n.*509C>G) c.*405C>G (n.*405C>G) c.789C>G (p.Val263=) c.681C>G (p.Val227=) c.717C>G (p.Val239=) | |
| 14 | g.91887266G>T | CA487567190 | FBLN5 | c.*632C>A (n.*632C>A) c.498C>A (p.Val166=) c.840C>A (p.Val280=) c.666C>A (p.Val222=) n.586C>A c.*509C>A (n.*509C>A) c.*405C>A (n.*405C>A) c.789C>A (p.Val263=) c.681C>A (p.Val227=) c.717C>A (p.Val239=) | |
| 14 | g.91887267A>C | CA390642689 | FBLN5 | c.*631T>G (n.*631T>G) c.497T>G (p.Val166Gly) c.839T>G (p.Val280Gly) c.665T>G (p.Val222Gly) n.585T>G c.*508T>G (n.*508T>G) c.*404T>G (n.*404T>G) c.788T>G (p.Val263Gly) c.680T>G (p.Val227Gly) c.716T>G (p.Val239Gly) | |
| 14 | g.91887267A>G | CA390642690 | FBLN5 | c.*631T>C (n.*631T>C) c.497T>C (p.Val166Ala) c.839T>C (p.Val280Ala) c.665T>C (p.Val222Ala) n.585T>C c.*508T>C (n.*508T>C) c.*404T>C (n.*404T>C) c.788T>C (p.Val263Ala) c.680T>C (p.Val227Ala) c.716T>C (p.Val239Ala) | |
| 14 | g.91887267A>T | CA390642691 | FBLN5 | c.*631T>A (n.*631T>A) c.497T>A (p.Val166Asp) c.839T>A (p.Val280Asp) c.665T>A (p.Val222Asp) n.585T>A c.*508T>A (n.*508T>A) c.*404T>A (n.*404T>A) c.788T>A (p.Val263Asp) c.680T>A (p.Val227Asp) c.716T>A (p.Val239Asp) | |
| 14 | g.91887268C>A | CA390642692 | FBLN5 | c.*630G>T (n.*630G>T) c.496G>T (p.Val166Phe) c.838G>T (p.Val280Phe) c.664G>T (p.Val222Phe) n.584G>T c.*507G>T (n.*507G>T) c.*403G>T (n.*403G>T) c.787G>T (p.Val263Phe) c.679G>T (p.Val227Phe) c.715G>T (p.Val239Phe) |