Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
14 | g.91887268C= | CA2155153548 | FBLN5 | c.*630G= (n.*630G=) c.496G= (p.Val166=) c.838G= (p.Val280=) c.664G= (p.Val222=) n.584G= c.*507G= (n.*507G=) c.*403G= (n.*403G=) c.787G= (p.Val263=) c.679G= (p.Val227=) c.715G= (p.Val239=) | |
14 | g.91887268C>G | CA390642693 | FBLN5 | c.*630G>C (n.*630G>C) c.496G>C (p.Val166Leu) c.838G>C (p.Val280Leu) c.664G>C (p.Val222Leu) n.584G>C c.*507G>C (n.*507G>C) c.*403G>C (n.*403G>C) c.787G>C (p.Val263Leu) c.679G>C (p.Val227Leu) c.715G>C (p.Val239Leu) | gnomAD v4 |
14 | g.91887268C>T | CA7312764 | FBLN5 | c.*630G>A (n.*630G>A) c.496G>A (p.Val166Ile) c.838G>A (p.Val280Ile) c.664G>A (p.Val222Ile) n.584G>A c.*507G>A (n.*507G>A) c.*403G>A (n.*403G>A) c.787G>A (p.Val263Ile) c.679G>A (p.Val227Ile) c.715G>A (p.Val239Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91887269G>A | CA7312765 | FBLN5 | c.*629C>T (n.*629C>T) c.495C>T (p.Cys165=) c.837C>T (p.Cys279=) c.663C>T (p.Cys221=) n.583C>T c.*506C>T (n.*506C>T) c.*402C>T (n.*402C>T) c.786C>T (p.Cys262=) c.678C>T (p.Cys226=) c.714C>T (p.Cys238=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91887269G>C | CA390642694 | FBLN5 | c.*629C>G (n.*629C>G) c.495C>G (p.Cys165Trp) c.837C>G (p.Cys279Trp) c.663C>G (p.Cys221Trp) n.583C>G c.*506C>G (n.*506C>G) c.*402C>G (n.*402C>G) c.786C>G (p.Cys262Trp) c.678C>G (p.Cys226Trp) c.714C>G (p.Cys238Trp) | |
14 | g.91887269G= | CA2155153553 | FBLN5 | c.*629C= (n.*629C=) c.495C= (p.Cys165=) c.837C= (p.Cys279=) c.663C= (p.Cys221=) n.583C= c.*506C= (n.*506C=) c.*402C= (n.*402C=) c.786C= (p.Cys262=) c.678C= (p.Cys226=) c.714C= (p.Cys238=) | |
14 | g.91887269G>T | CA390642695 | FBLN5 | c.*629C>A (n.*629C>A) c.495C>A (p.Cys165Ter) c.837C>A (p.Cys279Ter) c.663C>A (p.Cys221Ter) n.583C>A c.*506C>A (n.*506C>A) c.*402C>A (n.*402C>A) c.786C>A (p.Cys262Ter) c.678C>A (p.Cys226Ter) c.714C>A (p.Cys238Ter) | ClinVar gnomAD v4 |
14 | g.91887270C>A | CA390642696 | FBLN5 | c.*628G>T (n.*628G>T) c.494G>T (p.Cys165Phe) c.836G>T (p.Cys279Phe) c.662G>T (p.Cys221Phe) n.582G>T c.*505G>T (n.*505G>T) c.*401G>T (n.*401G>T) c.785G>T (p.Cys262Phe) c.677G>T (p.Cys226Phe) c.713G>T (p.Cys238Phe) | |
14 | g.91887270C>G | CA390642697 | FBLN5 | c.*628G>C (n.*628G>C) c.494G>C (p.Cys165Ser) c.836G>C (p.Cys279Ser) c.662G>C (p.Cys221Ser) n.582G>C c.*505G>C (n.*505G>C) c.*401G>C (n.*401G>C) c.785G>C (p.Cys262Ser) c.677G>C (p.Cys226Ser) c.713G>C (p.Cys238Ser) | |
14 | g.91887270C>T | CA390642698 | FBLN5 | c.*628G>A (n.*628G>A) c.494G>A (p.Cys165Tyr) c.836G>A (p.Cys279Tyr) c.662G>A (p.Cys221Tyr) n.582G>A c.*505G>A (n.*505G>A) c.*401G>A (n.*401G>A) c.785G>A (p.Cys262Tyr) c.677G>A (p.Cys226Tyr) c.713G>A (p.Cys238Tyr) | |
14 | g.91887271A>C | CA390642699 | FBLN5 | c.*627T>G (n.*627T>G) c.493T>G (p.Cys165Gly) c.835T>G (p.Cys279Gly) c.661T>G (p.Cys221Gly) n.581T>G c.*504T>G (n.*504T>G) c.*400T>G (n.*400T>G) c.784T>G (p.Cys262Gly) c.676T>G (p.Cys226Gly) c.712T>G (p.Cys238Gly) | |
14 | g.91887271A>G | CA390642701 | FBLN5 | c.*627T>C (n.*627T>C) c.493T>C (p.Cys165Arg) c.835T>C (p.Cys279Arg) c.661T>C (p.Cys221Arg) n.581T>C c.*504T>C (n.*504T>C) c.*400T>C (n.*400T>C) c.784T>C (p.Cys262Arg) c.676T>C (p.Cys226Arg) c.712T>C (p.Cys238Arg) | |
14 | g.91887271A>T | CA390642700 | FBLN5 | c.*627T>A (n.*627T>A) c.493T>A (p.Cys165Ser) c.835T>A (p.Cys279Ser) c.661T>A (p.Cys221Ser) n.581T>A c.*504T>A (n.*504T>A) c.*400T>A (n.*400T>A) c.784T>A (p.Cys262Ser) c.676T>A (p.Cys226Ser) c.712T>A (p.Cys238Ser) | |
14 | g.91887272G>A | CA487567191 | FBLN5 | c.*626C>T (n.*626C>T) c.492C>T (p.Thr164=) c.834C>T (p.Thr278=) c.660C>T (p.Thr220=) n.580C>T c.*503C>T (n.*503C>T) c.*399C>T (n.*399C>T) c.783C>T (p.Thr261=) c.675C>T (p.Thr225=) c.711C>T (p.Thr237=) | dbSNP COSMIC |
14 | g.91887272G>C | CA487567192 | FBLN5 | c.*626C>G (n.*626C>G) c.492C>G (p.Thr164=) c.834C>G (p.Thr278=) c.660C>G (p.Thr220=) n.580C>G c.*503C>G (n.*503C>G) c.*399C>G (n.*399C>G) c.783C>G (p.Thr261=) c.675C>G (p.Thr225=) c.711C>G (p.Thr237=) | gnomAD v4 |
14 | g.91887272G= | CA2155153557 | FBLN5 | c.*626C= (n.*626C=) c.492C= (p.Thr164=) c.834C= (p.Thr278=) c.660C= (p.Thr220=) n.580C= c.*503C= (n.*503C=) c.*399C= (n.*399C=) c.783C= (p.Thr261=) c.675C= (p.Thr225=) c.711C= (p.Thr237=) | |
14 | g.91887272G>T | CA487567193 | FBLN5 | c.*626C>A (n.*626C>A) c.492C>A (p.Thr164=) c.834C>A (p.Thr278=) c.660C>A (p.Thr220=) n.580C>A c.*503C>A (n.*503C>A) c.*399C>A (n.*399C>A) c.783C>A (p.Thr261=) c.675C>A (p.Thr225=) c.711C>A (p.Thr237=) | |
14 | g.91887273G>A | CA390642702 | FBLN5 | c.*625C>T (n.*625C>T) c.491C>T (p.Thr164Ile) c.833C>T (p.Thr278Ile) c.659C>T (p.Thr220Ile) n.579C>T c.*502C>T (n.*502C>T) c.*398C>T (n.*398C>T) c.782C>T (p.Thr261Ile) c.674C>T (p.Thr225Ile) c.710C>T (p.Thr237Ile) | |
14 | g.91887273G>C | CA390642703 | FBLN5 | c.*625C>G (n.*625C>G) c.491C>G (p.Thr164Ser) c.833C>G (p.Thr278Ser) c.659C>G (p.Thr220Ser) n.579C>G c.*502C>G (n.*502C>G) c.*398C>G (n.*398C>G) c.782C>G (p.Thr261Ser) c.674C>G (p.Thr225Ser) c.710C>G (p.Thr237Ser) | |
14 | g.91887273G= | CA2155153563 | FBLN5 | c.*625C= (n.*625C=) c.491C= (p.Thr164=) c.833C= (p.Thr278=) c.659C= (p.Thr220=) n.579C= c.*502C= (n.*502C=) c.*398C= (n.*398C=) c.782C= (p.Thr261=) c.674C= (p.Thr225=) c.710C= (p.Thr237=) | |
14 | g.91887273G>T | CA7312766 | FBLN5 | c.*625C>A (n.*625C>A) c.491C>A (p.Thr164Asn) c.833C>A (p.Thr278Asn) c.659C>A (p.Thr220Asn) n.579C>A c.*502C>A (n.*502C>A) c.*398C>A (n.*398C>A) c.782C>A (p.Thr261Asn) c.674C>A (p.Thr225Asn) c.710C>A (p.Thr237Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91887274T>A | CA390642704 | FBLN5 | c.*624A>T (n.*624A>T) c.490A>T (p.Thr164Ser) c.832A>T (p.Thr278Ser) c.658A>T (p.Thr220Ser) n.578A>T c.*501A>T (n.*501A>T) c.*397A>T (n.*397A>T) c.781A>T (p.Thr261Ser) c.673A>T (p.Thr225Ser) c.709A>T (p.Thr237Ser) | |
14 | g.91887274T>C | CA390642705 | FBLN5 | c.*624A>G (n.*624A>G) c.490A>G (p.Thr164Ala) c.832A>G (p.Thr278Ala) c.658A>G (p.Thr220Ala) n.578A>G c.*501A>G (n.*501A>G) c.*397A>G (n.*397A>G) c.781A>G (p.Thr261Ala) c.673A>G (p.Thr225Ala) c.709A>G (p.Thr237Ala) | |
14 | g.91887274T>G | CA390642706 | FBLN5 | c.*624A>C (n.*624A>C) c.490A>C (p.Thr164Pro) c.832A>C (p.Thr278Pro) c.658A>C (p.Thr220Pro) n.578A>C c.*501A>C (n.*501A>C) c.*397A>C (n.*397A>C) c.781A>C (p.Thr261Pro) c.673A>C (p.Thr225Pro) c.709A>C (p.Thr237Pro) | |
14 | g.91887275T>A | CA390642707 | FBLN5 | c.*623A>T (n.*623A>T) c.489A>T (p.Gln163His) c.831A>T (p.Gln277His) c.657A>T (p.Gln219His) n.577A>T c.*500A>T (n.*500A>T) c.*396A>T (n.*396A>T) c.780A>T (p.Gln260His) c.672A>T (p.Gln224His) c.708A>T (p.Gln236His) | |
14 | g.91887275T>C | CA487567195 | FBLN5 | c.*623A>G (n.*623A>G) c.489A>G (p.Gln163=) c.831A>G (p.Gln277=) c.657A>G (p.Gln219=) n.577A>G c.*500A>G (n.*500A>G) c.*396A>G (n.*396A>G) c.780A>G (p.Gln260=) c.672A>G (p.Gln224=) c.708A>G (p.Gln236=) | |
14 | g.91887275T>G | CA390642708 | FBLN5 | c.*623A>C (n.*623A>C) c.489A>C (p.Gln163His) c.831A>C (p.Gln277His) c.657A>C (p.Gln219His) n.577A>C c.*500A>C (n.*500A>C) c.*396A>C (n.*396A>C) c.780A>C (p.Gln260His) c.672A>C (p.Gln224His) c.708A>C (p.Gln236His) | |
14 | g.91887276T>A | CA390642709 | FBLN5 | c.*622A>T (n.*622A>T) c.488A>T (p.Gln163Leu) c.830A>T (p.Gln277Leu) c.656A>T (p.Gln219Leu) n.576A>T c.*499A>T (n.*499A>T) c.*395A>T (n.*395A>T) c.779A>T (p.Gln260Leu) c.671A>T (p.Gln224Leu) c.707A>T (p.Gln236Leu) | |
14 | g.91887276T>C | CA390642710 | FBLN5 | c.*622A>G (n.*622A>G) c.488A>G (p.Gln163Arg) c.830A>G (p.Gln277Arg) c.656A>G (p.Gln219Arg) n.576A>G c.*499A>G (n.*499A>G) c.*395A>G (n.*395A>G) c.779A>G (p.Gln260Arg) c.671A>G (p.Gln224Arg) c.707A>G (p.Gln236Arg) | |
14 | g.91887276T>G | CA390642711 | FBLN5 | c.*622A>C (n.*622A>C) c.488A>C (p.Gln163Pro) c.830A>C (p.Gln277Pro) c.656A>C (p.Gln219Pro) n.576A>C c.*499A>C (n.*499A>C) c.*395A>C (n.*395A>C) c.779A>C (p.Gln260Pro) c.671A>C (p.Gln224Pro) c.707A>C (p.Gln236Pro) | |
14 | g.91887277G>A | CA390642714 | FBLN5 | c.*621C>T (n.*621C>T) c.487C>T (p.Gln163Ter) c.829C>T (p.Gln277Ter) c.655C>T (p.Gln219Ter) n.575C>T c.*498C>T (n.*498C>T) c.*394C>T (n.*394C>T) c.778C>T (p.Gln260Ter) c.670C>T (p.Gln224Ter) c.706C>T (p.Gln236Ter) | |
14 | g.91887277G>C | CA390642713 | FBLN5 | c.*621C>G (n.*621C>G) c.487C>G (p.Gln163Glu) c.829C>G (p.Gln277Glu) c.655C>G (p.Gln219Glu) n.575C>G c.*498C>G (n.*498C>G) c.*394C>G (n.*394C>G) c.778C>G (p.Gln260Glu) c.670C>G (p.Gln224Glu) c.706C>G (p.Gln236Glu) | |
14 | g.91887277G>T | CA390642712 | FBLN5 | c.*621C>A (n.*621C>A) c.487C>A (p.Gln163Lys) c.829C>A (p.Gln277Lys) c.655C>A (p.Gln219Lys) n.575C>A c.*498C>A (n.*498C>A) c.*394C>A (n.*394C>A) c.778C>A (p.Gln260Lys) c.670C>A (p.Gln224Lys) c.706C>A (p.Gln236Lys) | |
14 | g.91887278C>A | CA487567196 | FBLN5 | c.*620G>T (n.*620G>T) c.486G>T (p.Val162=) c.828G>T (p.Val276=) c.654G>T (p.Val218=) n.574G>T c.*497G>T (n.*497G>T) c.*393G>T (n.*393G>T) c.777G>T (p.Val259=) c.669G>T (p.Val223=) c.705G>T (p.Val235=) | |
14 | g.91887278C>G | CA487567197 | FBLN5 | c.*620G>C (n.*620G>C) c.486G>C (p.Val162=) c.828G>C (p.Val276=) c.654G>C (p.Val218=) n.574G>C c.*497G>C (n.*497G>C) c.*393G>C (n.*393G>C) c.777G>C (p.Val259=) c.669G>C (p.Val223=) c.705G>C (p.Val235=) | |
14 | g.91887278C>T | CA487567198 | FBLN5 | c.*620G>A (n.*620G>A) c.486G>A (p.Val162=) c.828G>A (p.Val276=) c.654G>A (p.Val218=) n.574G>A c.*497G>A (n.*497G>A) c.*393G>A (n.*393G>A) c.777G>A (p.Val259=) c.669G>A (p.Val223=) c.705G>A (p.Val235=) | |
14 | g.91887279A>C | CA390642715 | FBLN5 | c.*619T>G (n.*619T>G) c.485T>G (p.Val162Gly) c.827T>G (p.Val276Gly) c.653T>G (p.Val218Gly) n.573T>G c.*496T>G (n.*496T>G) c.*392T>G (n.*392T>G) c.776T>G (p.Val259Gly) c.668T>G (p.Val223Gly) c.704T>G (p.Val235Gly) | |
14 | g.91887279A>G | CA390642716 | FBLN5 | c.*619T>C (n.*619T>C) c.485T>C (p.Val162Ala) c.827T>C (p.Val276Ala) c.653T>C (p.Val218Ala) n.573T>C c.*496T>C (n.*496T>C) c.*392T>C (n.*392T>C) c.776T>C (p.Val259Ala) c.668T>C (p.Val223Ala) c.704T>C (p.Val235Ala) | |
14 | g.91887279A>T | CA390642717 | FBLN5 | c.*619T>A (n.*619T>A) c.485T>A (p.Val162Glu) c.827T>A (p.Val276Glu) c.653T>A (p.Val218Glu) n.573T>A c.*496T>A (n.*496T>A) c.*392T>A (n.*392T>A) c.776T>A (p.Val259Glu) c.668T>A (p.Val223Glu) c.704T>A (p.Val235Glu) | |
14 | g.91887280C>A | CA7312767 | FBLN5 | c.*618G>T (n.*618G>T) c.484G>T (p.Val162Leu) c.826G>T (p.Val276Leu) c.652G>T (p.Val218Leu) n.572G>T c.*495G>T (n.*495G>T) c.*391G>T (n.*391G>T) c.775G>T (p.Val259Leu) c.667G>T (p.Val223Leu) c.703G>T (p.Val235Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91887280C= | CA2155153572 | FBLN5 | c.*618G= (n.*618G=) c.484G= (p.Val162=) c.826G= (p.Val276=) c.652G= (p.Val218=) n.572G= c.*495G= (n.*495G=) c.*391G= (n.*391G=) c.775G= (p.Val259=) c.667G= (p.Val223=) c.703G= (p.Val235=) | |
14 | g.91887280C>G | CA390642718 | FBLN5 | c.*618G>C (n.*618G>C) c.484G>C (p.Val162Leu) c.826G>C (p.Val276Leu) c.652G>C (p.Val218Leu) n.572G>C c.*495G>C (n.*495G>C) c.*391G>C (n.*391G>C) c.775G>C (p.Val259Leu) c.667G>C (p.Val223Leu) c.703G>C (p.Val235Leu) | |
14 | g.91887280C>T | CA7312768 | FBLN5 | c.*618G>A (n.*618G>A) c.484G>A (p.Val162Met) c.826G>A (p.Val276Met) c.652G>A (p.Val218Met) n.572G>A c.*495G>A (n.*495G>A) c.*391G>A (n.*391G>A) c.775G>A (p.Val259Met) c.667G>A (p.Val223Met) c.703G>A (p.Val235Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.91887281G>A | CA7312769 | FBLN5 | c.*617C>T (n.*617C>T) c.483C>T (p.Cys161=) c.825C>T (p.Cys275=) c.651C>T (p.Cys217=) n.571C>T c.*494C>T (n.*494C>T) c.*390C>T (n.*390C>T) c.774C>T (p.Cys258=) c.666C>T (p.Cys222=) c.702C>T (p.Cys234=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.91887281G>C | CA390642719 | FBLN5 | c.*617C>G (n.*617C>G) c.483C>G (p.Cys161Trp) c.825C>G (p.Cys275Trp) c.651C>G (p.Cys217Trp) n.571C>G c.*494C>G (n.*494C>G) c.*390C>G (n.*390C>G) c.774C>G (p.Cys258Trp) c.666C>G (p.Cys222Trp) c.702C>G (p.Cys234Trp) | ClinVar |
14 | g.91887281G= | CA2155153577 | FBLN5 | c.*617C= (n.*617C=) c.483C= (p.Cys161=) c.825C= (p.Cys275=) c.651C= (p.Cys217=) n.571C= c.*494C= (n.*494C=) c.*390C= (n.*390C=) c.774C= (p.Cys258=) c.666C= (p.Cys222=) c.702C= (p.Cys234=) | |
14 | g.91887281G>T | CA390642720 | FBLN5 | c.*617C>A (n.*617C>A) c.483C>A (p.Cys161Ter) c.825C>A (p.Cys275Ter) c.651C>A (p.Cys217Ter) n.571C>A c.*494C>A (n.*494C>A) c.*390C>A (n.*390C>A) c.774C>A (p.Cys258Ter) c.666C>A (p.Cys222Ter) c.702C>A (p.Cys234Ter) | |
14 | g.91887282C>A | CA390642721 | FBLN5 | c.*616G>T (n.*616G>T) c.482G>T (p.Cys161Phe) c.824G>T (p.Cys275Phe) c.650G>T (p.Cys217Phe) n.570G>T c.*493G>T (n.*493G>T) c.*389G>T (n.*389G>T) c.773G>T (p.Cys258Phe) c.665G>T (p.Cys222Phe) c.701G>T (p.Cys234Phe) | |
14 | g.91887282C>G | CA390642722 | FBLN5 | c.*616G>C (n.*616G>C) c.482G>C (p.Cys161Ser) c.824G>C (p.Cys275Ser) c.650G>C (p.Cys217Ser) n.570G>C c.*493G>C (n.*493G>C) c.*389G>C (n.*389G>C) c.773G>C (p.Cys258Ser) c.665G>C (p.Cys222Ser) c.701G>C (p.Cys234Ser) | |
14 | g.91887282C>T | CA390642723 | FBLN5 | c.*616G>A (n.*616G>A) c.482G>A (p.Cys161Tyr) c.824G>A (p.Cys275Tyr) c.650G>A (p.Cys217Tyr) n.570G>A c.*493G>A (n.*493G>A) c.*389G>A (n.*389G>A) c.773G>A (p.Cys258Tyr) c.665G>A (p.Cys222Tyr) c.701G>A (p.Cys234Tyr) | |
14 | g.91887283A= | CA2155153585 | FBLN5 | c.*615T= (n.*615T=) c.481T= (p.Cys161=) c.823T= (p.Cys275=) c.649T= (p.Cys217=) n.569T= c.*492T= (n.*492T=) c.*388T= (n.*388T=) c.772T= (p.Cys258=) c.664T= (p.Cys222=) c.700T= (p.Cys234=) | |
14 | g.91887283A>C | CA390642725 | FBLN5 | c.*615T>G (n.*615T>G) c.481T>G (p.Cys161Gly) c.823T>G (p.Cys275Gly) c.649T>G (p.Cys217Gly) n.569T>G c.*492T>G (n.*492T>G) c.*388T>G (n.*388T>G) c.772T>G (p.Cys258Gly) c.664T>G (p.Cys222Gly) c.700T>G (p.Cys234Gly) | |
14 | g.91887283A>G | CA342104 | FBLN5 | c.*615T>C (n.*615T>C) c.481T>C (p.Cys161Arg) c.823T>C (p.Cys275Arg) c.649T>C (p.Cys217Arg) n.569T>C c.*492T>C (n.*492T>C) c.*388T>C (n.*388T>C) c.772T>C (p.Cys258Arg) c.664T>C (p.Cys222Arg) c.700T>C (p.Cys234Arg) | ClinVar dbSNP |
14 | g.91887283A>T | CA390642724 | FBLN5 | c.*615T>A (n.*615T>A) c.481T>A (p.Cys161Ser) c.823T>A (p.Cys275Ser) c.649T>A (p.Cys217Ser) n.569T>A c.*492T>A (n.*492T>A) c.*388T>A (n.*388T>A) c.772T>A (p.Cys258Ser) c.664T>A (p.Cys222Ser) c.700T>A (p.Cys234Ser) | |
14 | g.91887284G>A | CA487567199 | FBLN5 | c.*614C>T (n.*614C>T) c.480C>T (p.Pro160=) c.822C>T (p.Pro274=) c.648C>T (p.Pro216=) n.568C>T c.*491C>T (n.*491C>T) c.*387C>T (n.*387C>T) c.771C>T (p.Pro257=) c.663C>T (p.Pro221=) c.699C>T (p.Pro233=) | |
14 | g.91887284G>C | CA487567200 | FBLN5 | c.*614C>G (n.*614C>G) c.480C>G (p.Pro160=) c.822C>G (p.Pro274=) c.648C>G (p.Pro216=) n.568C>G c.*491C>G (n.*491C>G) c.*387C>G (n.*387C>G) c.771C>G (p.Pro257=) c.663C>G (p.Pro221=) c.699C>G (p.Pro233=) | |
14 | g.91887284G>T | CA487567201 | FBLN5 | c.*614C>A (n.*614C>A) c.480C>A (p.Pro160=) c.822C>A (p.Pro274=) c.648C>A (p.Pro216=) n.568C>A c.*491C>A (n.*491C>A) c.*387C>A (n.*387C>A) c.771C>A (p.Pro257=) c.663C>A (p.Pro221=) c.699C>A (p.Pro233=) | |
14 | g.91887287dup | CA2840296131 | FBLN5 | c.*614dup (n.*614dup) c.480dup (p.Cys161LeufsTer17) c.822dup (p.Cys275LeufsTer17) c.648dup (p.Cys217LeufsTer17) n.568dup c.*491dup (n.*491dup) c.*387dup (n.*387dup) c.771dup (p.Cys258LeufsTer17) c.663dup (p.Cys222LeufsTer17) c.699dup (p.Cys234LeufsTer17) | |
14 | g.91887285G>A | CA390642727 | FBLN5 | c.*613C>T (n.*613C>T) c.479C>T (p.Pro160Leu) c.821C>T (p.Pro274Leu) c.647C>T (p.Pro216Leu) n.567C>T c.*490C>T (n.*490C>T) c.*386C>T (n.*386C>T) c.770C>T (p.Pro257Leu) c.662C>T (p.Pro221Leu) c.698C>T (p.Pro233Leu) | gnomAD v4 |
14 | g.91887285G>C | CA390642726 | FBLN5 | c.*613C>G (n.*613C>G) c.479C>G (p.Pro160Arg) c.821C>G (p.Pro274Arg) c.647C>G (p.Pro216Arg) n.567C>G c.*490C>G (n.*490C>G) c.*386C>G (n.*386C>G) c.770C>G (p.Pro257Arg) c.662C>G (p.Pro221Arg) c.698C>G (p.Pro233Arg) | |
14 | g.91887285G>T | CA390642728 | FBLN5 | c.*613C>A (n.*613C>A) c.479C>A (p.Pro160His) c.821C>A (p.Pro274His) c.647C>A (p.Pro216His) n.567C>A c.*490C>A (n.*490C>A) c.*386C>A (n.*386C>A) c.770C>A (p.Pro257His) c.662C>A (p.Pro221His) c.698C>A (p.Pro233His) | gnomAD v4 |
14 | g.91887286G>A | CA7312770 | FBLN5 | c.*612C>T (n.*612C>T) c.478C>T (p.Pro160Ser) c.820C>T (p.Pro274Ser) c.646C>T (p.Pro216Ser) n.566C>T c.*489C>T (n.*489C>T) c.*385C>T (n.*385C>T) c.769C>T (p.Pro257Ser) c.661C>T (p.Pro221Ser) c.697C>T (p.Pro233Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91887286G>C | CA7312771 | FBLN5 | c.*612C>G (n.*612C>G) c.478C>G (p.Pro160Ala) c.820C>G (p.Pro274Ala) c.646C>G (p.Pro216Ala) n.566C>G c.*489C>G (n.*489C>G) c.*385C>G (n.*385C>G) c.769C>G (p.Pro257Ala) c.661C>G (p.Pro221Ala) c.697C>G (p.Pro233Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91887286G= | CA2155153589 | FBLN5 | c.*612C= (n.*612C=) c.478C= (p.Pro160=) c.820C= (p.Pro274=) c.646C= (p.Pro216=) n.566C= c.*489C= (n.*489C=) c.*385C= (n.*385C=) c.769C= (p.Pro257=) c.661C= (p.Pro221=) c.697C= (p.Pro233=) | |
14 | g.91887286G>T | CA390642729 | FBLN5 | c.*612C>A (n.*612C>A) c.478C>A (p.Pro160Thr) c.820C>A (p.Pro274Thr) c.646C>A (p.Pro216Thr) n.566C>A c.*489C>A (n.*489C>A) c.*385C>A (n.*385C>A) c.769C>A (p.Pro257Thr) c.661C>A (p.Pro221Thr) c.697C>A (p.Pro233Thr) | |
14 | g.91887289_91887295del | CA2626159472 | FBLN5 | c.*606_*612del (n.*606_*612del) c.472_478del (p.Glu158ProfsTer?) c.814_820del (p.Glu272ProfsTer?) c.640_646del (p.Glu214ProfsTer?) n.560_566del c.*483_*489del (n.*483_*489del) c.*379_*385del (n.*379_*385del) c.763_769del (p.Glu255ProfsTer?) c.655_661del (p.Glu219ProfsTer?) c.691_697del (p.Glu231ProfsTer?) | gnomAD v4 |
14 | g.91887287G>A | CA487567202 | FBLN5 | c.*611C>T (n.*611C>T) c.477C>T (p.Asn159=) c.819C>T (p.Asn273=) c.645C>T (p.Asn215=) n.565C>T c.*488C>T (n.*488C>T) c.*384C>T (n.*384C>T) c.768C>T (p.Asn256=) c.660C>T (p.Asn220=) c.696C>T (p.Asn232=) | ClinVar dbSNP gnomAD v4 |
14 | g.91887287G>C | CA390642730 | FBLN5 | c.*611C>G (n.*611C>G) c.477C>G (p.Asn159Lys) c.819C>G (p.Asn273Lys) c.645C>G (p.Asn215Lys) n.565C>G c.*488C>G (n.*488C>G) c.*384C>G (n.*384C>G) c.768C>G (p.Asn256Lys) c.660C>G (p.Asn220Lys) c.696C>G (p.Asn232Lys) | gnomAD v4 |
14 | g.91887287G= | CA2155153597 | FBLN5 | c.*611C= (n.*611C=) c.477C= (p.Asn159=) c.819C= (p.Asn273=) c.645C= (p.Asn215=) n.565C= c.*488C= (n.*488C=) c.*384C= (n.*384C=) c.768C= (p.Asn256=) c.660C= (p.Asn220=) c.696C= (p.Asn232=) | |
14 | g.91887287G>T | CA390642731 | FBLN5 | c.*611C>A (n.*611C>A) c.477C>A (p.Asn159Lys) c.819C>A (p.Asn273Lys) c.645C>A (p.Asn215Lys) n.565C>A c.*488C>A (n.*488C>A) c.*384C>A (n.*384C>A) c.768C>A (p.Asn256Lys) c.660C>A (p.Asn220Lys) c.696C>A (p.Asn232Lys) | |
14 | g.91887288T>A | CA390642732 | FBLN5 | c.*610A>T (n.*610A>T) c.476A>T (p.Asn159Ile) c.818A>T (p.Asn273Ile) c.644A>T (p.Asn215Ile) n.564A>T c.*487A>T (n.*487A>T) c.*383A>T (n.*383A>T) c.767A>T (p.Asn256Ile) c.659A>T (p.Asn220Ile) c.695A>T (p.Asn232Ile) | |
14 | g.91887288T>C | CA390642733 | FBLN5 | c.*610A>G (n.*610A>G) c.476A>G (p.Asn159Ser) c.818A>G (p.Asn273Ser) c.644A>G (p.Asn215Ser) n.564A>G c.*487A>G (n.*487A>G) c.*383A>G (n.*383A>G) c.767A>G (p.Asn256Ser) c.659A>G (p.Asn220Ser) c.695A>G (p.Asn232Ser) | |
14 | g.91887288T>G | CA390642734 | FBLN5 | c.*610A>C (n.*610A>C) c.476A>C (p.Asn159Thr) c.818A>C (p.Asn273Thr) c.644A>C (p.Asn215Thr) n.564A>C c.*487A>C (n.*487A>C) c.*383A>C (n.*383A>C) c.767A>C (p.Asn256Thr) c.659A>C (p.Asn220Thr) c.695A>C (p.Asn232Thr) | dbSNP |
14 | g.91887288T= | CA2155153601 | FBLN5 | c.*610A= (n.*610A=) c.476A= (p.Asn159=) c.818A= (p.Asn273=) c.644A= (p.Asn215=) n.564A= c.*487A= (n.*487A=) c.*383A= (n.*383A=) c.767A= (p.Asn256=) c.659A= (p.Asn220=) c.695A= (p.Asn232=) | |
14 | g.91887289T>A | CA390642735 | FBLN5 | c.*609A>T (n.*609A>T) c.475A>T (p.Asn159Tyr) c.817A>T (p.Asn273Tyr) c.643A>T (p.Asn215Tyr) n.563A>T c.*486A>T (n.*486A>T) c.*382A>T (n.*382A>T) c.766A>T (p.Asn256Tyr) c.658A>T (p.Asn220Tyr) c.694A>T (p.Asn232Tyr) | |
14 | g.91887289T>C | CA390642736 | FBLN5 | c.*609A>G (n.*609A>G) c.475A>G (p.Asn159Asp) c.817A>G (p.Asn273Asp) c.643A>G (p.Asn215Asp) n.563A>G c.*486A>G (n.*486A>G) c.*382A>G (n.*382A>G) c.766A>G (p.Asn256Asp) c.658A>G (p.Asn220Asp) c.694A>G (p.Asn232Asp) | |
14 | g.91887289T>G | CA390642737 | FBLN5 | c.*609A>C (n.*609A>C) c.475A>C (p.Asn159His) c.817A>C (p.Asn273His) c.643A>C (p.Asn215His) n.563A>C c.*486A>C (n.*486A>C) c.*382A>C (n.*382A>C) c.766A>C (p.Asn256His) c.658A>C (p.Asn220His) c.694A>C (p.Asn232His) | |
14 | g.91887290C>A | CA390642738 | FBLN5 | c.*608G>T (n.*608G>T) c.474G>T (p.Glu158Asp) c.816G>T (p.Glu272Asp) c.642G>T (p.Glu214Asp) n.562G>T c.*485G>T (n.*485G>T) c.*381G>T (n.*381G>T) c.765G>T (p.Glu255Asp) c.657G>T (p.Glu219Asp) c.693G>T (p.Glu231Asp) | COSMIC |
14 | g.91887290C>G | CA390642739 | FBLN5 | c.*608G>C (n.*608G>C) c.474G>C (p.Glu158Asp) c.816G>C (p.Glu272Asp) c.642G>C (p.Glu214Asp) n.562G>C c.*485G>C (n.*485G>C) c.*381G>C (n.*381G>C) c.765G>C (p.Glu255Asp) c.657G>C (p.Glu219Asp) c.693G>C (p.Glu231Asp) | |
14 | g.91887290C>T | CA487567203 | FBLN5 | c.*608G>A (n.*608G>A) c.474G>A (p.Glu158=) c.816G>A (p.Glu272=) c.642G>A (p.Glu214=) n.562G>A c.*485G>A (n.*485G>A) c.*381G>A (n.*381G>A) c.765G>A (p.Glu255=) c.657G>A (p.Glu219=) c.693G>A (p.Glu231=) | |
14 | g.91887291T>A | CA390642740 | FBLN5 | c.*607A>T (n.*607A>T) c.473A>T (p.Glu158Val) c.815A>T (p.Glu272Val) c.641A>T (p.Glu214Val) n.561A>T c.*484A>T (n.*484A>T) c.*380A>T (n.*380A>T) c.764A>T (p.Glu255Val) c.656A>T (p.Glu219Val) c.692A>T (p.Glu231Val) | |
14 | g.91887291T>C | CA390642742 | FBLN5 | c.*607A>G (n.*607A>G) c.473A>G (p.Glu158Gly) c.815A>G (p.Glu272Gly) c.641A>G (p.Glu214Gly) n.561A>G c.*484A>G (n.*484A>G) c.*380A>G (n.*380A>G) c.764A>G (p.Glu255Gly) c.656A>G (p.Glu219Gly) c.692A>G (p.Glu231Gly) | |
14 | g.91887291T>G | CA390642741 | FBLN5 | c.*607A>C (n.*607A>C) c.473A>C (p.Glu158Ala) c.815A>C (p.Glu272Ala) c.641A>C (p.Glu214Ala) n.561A>C c.*484A>C (n.*484A>C) c.*380A>C (n.*380A>C) c.764A>C (p.Glu255Ala) c.656A>C (p.Glu219Ala) c.692A>C (p.Glu231Ala) | |
14 | g.91887292C>A | CA390642743 | FBLN5 | c.*606G>T (n.*606G>T) c.472G>T (p.Glu158Ter) c.814G>T (p.Glu272Ter) c.640G>T (p.Glu214Ter) n.560G>T c.*483G>T (n.*483G>T) c.*379G>T (n.*379G>T) c.763G>T (p.Glu255Ter) c.655G>T (p.Glu219Ter) c.691G>T (p.Glu231Ter) | |
14 | g.91887292C= | CA2155153609 | FBLN5 | c.*606G= (n.*606G=) c.472G= (p.Glu158=) c.814G= (p.Glu272=) c.640G= (p.Glu214=) n.560G= c.*483G= (n.*483G=) c.*379G= (n.*379G=) c.763G= (p.Glu255=) c.655G= (p.Glu219=) c.691G= (p.Glu231=) | |
14 | g.91887292C>G | CA390642744 | FBLN5 | c.*606G>C (n.*606G>C) c.472G>C (p.Glu158Gln) c.814G>C (p.Glu272Gln) c.640G>C (p.Glu214Gln) n.560G>C c.*483G>C (n.*483G>C) c.*379G>C (n.*379G>C) c.763G>C (p.Glu255Gln) c.655G>C (p.Glu219Gln) c.691G>C (p.Glu231Gln) | |
14 | g.91887292C>T | CA7312772 | FBLN5 | c.*606G>A (n.*606G>A) c.472G>A (p.Glu158Lys) c.814G>A (p.Glu272Lys) c.640G>A (p.Glu214Lys) n.560G>A c.*483G>A (n.*483G>A) c.*379G>A (n.*379G>A) c.763G>A (p.Glu255Lys) c.655G>A (p.Glu219Lys) c.691G>A (p.Glu231Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91887293G>A | CA7312773 | FBLN5 | c.*605C>T (n.*605C>T) c.471C>T (p.Thr157=) c.813C>T (p.Thr271=) c.639C>T (p.Thr213=) n.559C>T c.*482C>T (n.*482C>T) c.*378C>T (n.*378C>T) c.762C>T (p.Thr254=) c.654C>T (p.Thr218=) c.690C>T (p.Thr230=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.91887293G>C | CA487567204 | FBLN5 | c.*605C>G (n.*605C>G) c.471C>G (p.Thr157=) c.813C>G (p.Thr271=) c.639C>G (p.Thr213=) n.559C>G c.*482C>G (n.*482C>G) c.*378C>G (n.*378C>G) c.762C>G (p.Thr254=) c.654C>G (p.Thr218=) c.690C>G (p.Thr230=) | |
14 | g.91887293G= | CA2155153615 | FBLN5 | c.*605C= (n.*605C=) c.471C= (p.Thr157=) c.813C= (p.Thr271=) c.639C= (p.Thr213=) n.559C= c.*482C= (n.*482C=) c.*378C= (n.*378C=) c.762C= (p.Thr254=) c.654C= (p.Thr218=) c.690C= (p.Thr230=) | |
14 | g.91887293G>T | CA487567205 | FBLN5 | c.*605C>A (n.*605C>A) c.471C>A (p.Thr157=) c.813C>A (p.Thr271=) c.639C>A (p.Thr213=) n.559C>A c.*482C>A (n.*482C>A) c.*378C>A (n.*378C>A) c.762C>A (p.Thr254=) c.654C>A (p.Thr218=) c.690C>A (p.Thr230=) | gnomAD v4 |
14 | g.91887294G>A | CA265597341 | FBLN5 | c.*604C>T (n.*604C>T) c.470C>T (p.Thr157Ile) c.812C>T (p.Thr271Ile) c.638C>T (p.Thr213Ile) n.558C>T c.*481C>T (n.*481C>T) c.*377C>T (n.*377C>T) c.761C>T (p.Thr254Ile) c.653C>T (p.Thr218Ile) c.689C>T (p.Thr230Ile) | ClinVar dbSNP gnomAD v4 |
14 | g.91887294G>C | CA390642745 | FBLN5 | c.*604C>G (n.*604C>G) c.470C>G (p.Thr157Ser) c.812C>G (p.Thr271Ser) c.638C>G (p.Thr213Ser) n.558C>G c.*481C>G (n.*481C>G) c.*377C>G (n.*377C>G) c.761C>G (p.Thr254Ser) c.653C>G (p.Thr218Ser) c.689C>G (p.Thr230Ser) | |
14 | g.91887294G= | CA2155153632 | FBLN5 | c.*604C= (n.*604C=) c.470C= (p.Thr157=) c.812C= (p.Thr271=) c.638C= (p.Thr213=) n.558C= c.*481C= (n.*481C=) c.*377C= (n.*377C=) c.761C= (p.Thr254=) c.653C= (p.Thr218=) c.689C= (p.Thr230=) | |
14 | g.91887294G>T | CA390642746 | FBLN5 | c.*604C>A (n.*604C>A) c.470C>A (p.Thr157Asn) c.812C>A (p.Thr271Asn) c.638C>A (p.Thr213Asn) n.558C>A c.*481C>A (n.*481C>A) c.*377C>A (n.*377C>A) c.761C>A (p.Thr254Asn) c.653C>A (p.Thr218Asn) c.689C>A (p.Thr230Asn) | |
14 | g.91887295T>A | CA390642747 | FBLN5 | c.*603A>T (n.*603A>T) c.469A>T (p.Thr157Ser) c.811A>T (p.Thr271Ser) c.637A>T (p.Thr213Ser) n.557A>T c.*480A>T (n.*480A>T) c.*376A>T (n.*376A>T) c.760A>T (p.Thr254Ser) c.652A>T (p.Thr218Ser) c.688A>T (p.Thr230Ser) | dbSNP gnomAD v4 |
14 | g.91887295T>C | CA390642748 | FBLN5 | c.*603A>G (n.*603A>G) c.469A>G (p.Thr157Ala) c.811A>G (p.Thr271Ala) c.637A>G (p.Thr213Ala) n.557A>G c.*480A>G (n.*480A>G) c.*376A>G (n.*376A>G) c.760A>G (p.Thr254Ala) c.652A>G (p.Thr218Ala) c.688A>G (p.Thr230Ala) | COSMIC |
14 | g.91887295T>G | CA390642749 | FBLN5 | c.*603A>C (n.*603A>C) c.469A>C (p.Thr157Pro) c.811A>C (p.Thr271Pro) c.637A>C (p.Thr213Pro) n.557A>C c.*480A>C (n.*480A>C) c.*376A>C (n.*376A>C) c.760A>C (p.Thr254Pro) c.652A>C (p.Thr218Pro) c.688A>C (p.Thr230Pro) | |
14 | g.91887295T= | CA2155153643 | FBLN5 | c.*603A= (n.*603A=) c.469A= (p.Thr157=) c.811A= (p.Thr271=) c.637A= (p.Thr213=) n.557A= c.*480A= (n.*480A=) c.*376A= (n.*376A=) c.760A= (p.Thr254=) c.652A= (p.Thr218=) c.688A= (p.Thr230=) | |
14 | g.91887296G>A | CA487567206 | FBLN5 | c.*602C>T (n.*602C>T) c.468C>T (p.Ala156=) c.810C>T (p.Ala270=) c.636C>T (p.Ala212=) n.556C>T c.*479C>T (n.*479C>T) c.*375C>T (n.*375C>T) c.759C>T (p.Ala253=) c.651C>T (p.Ala217=) c.687C>T (p.Ala229=) | dbSNP |
14 | g.91887296G>C | CA487567208 | FBLN5 | c.*602C>G (n.*602C>G) c.468C>G (p.Ala156=) c.810C>G (p.Ala270=) c.636C>G (p.Ala212=) n.556C>G c.*479C>G (n.*479C>G) c.*375C>G (n.*375C>G) c.759C>G (p.Ala253=) c.651C>G (p.Ala217=) c.687C>G (p.Ala229=) | |
14 | g.91887296G= | CA2155153650 | FBLN5 | c.*602C= (n.*602C=) c.468C= (p.Ala156=) c.810C= (p.Ala270=) c.636C= (p.Ala212=) n.556C= c.*479C= (n.*479C=) c.*375C= (n.*375C=) c.759C= (p.Ala253=) c.651C= (p.Ala217=) c.687C= (p.Ala229=) | |
14 | g.91887296G>T | CA487567207 | FBLN5 | c.*602C>A (n.*602C>A) c.468C>A (p.Ala156=) c.810C>A (p.Ala270=) c.636C>A (p.Ala212=) n.556C>A c.*479C>A (n.*479C>A) c.*375C>A (n.*375C>A) c.759C>A (p.Ala253=) c.651C>A (p.Ala217=) c.687C>A (p.Ala229=) | |
14 | g.91887297G>A | CA390642750 | FBLN5 | c.*601C>T (n.*601C>T) c.467C>T (p.Ala156Val) c.809C>T (p.Ala270Val) c.635C>T (p.Ala212Val) n.555C>T c.*478C>T (n.*478C>T) c.*374C>T (n.*374C>T) c.758C>T (p.Ala253Val) c.650C>T (p.Ala217Val) c.686C>T (p.Ala229Val) | ClinVar dbSNP gnomAD v4 |
14 | g.91887297G>C | CA390642751 | FBLN5 | c.*601C>G (n.*601C>G) c.467C>G (p.Ala156Gly) c.809C>G (p.Ala270Gly) c.635C>G (p.Ala212Gly) n.555C>G c.*478C>G (n.*478C>G) c.*374C>G (n.*374C>G) c.758C>G (p.Ala253Gly) c.650C>G (p.Ala217Gly) c.686C>G (p.Ala229Gly) | |
14 | g.91887297G= | CA2155153656 | FBLN5 | c.*601C= (n.*601C=) c.467C= (p.Ala156=) c.809C= (p.Ala270=) c.635C= (p.Ala212=) n.555C= c.*478C= (n.*478C=) c.*374C= (n.*374C=) c.758C= (p.Ala253=) c.650C= (p.Ala217=) c.686C= (p.Ala229=) | |
14 | g.91887297G>T | CA7312774 | FBLN5 | c.*601C>A (n.*601C>A) c.467C>A (p.Ala156Asp) c.809C>A (p.Ala270Asp) c.635C>A (p.Ala212Asp) n.555C>A c.*478C>A (n.*478C>A) c.*374C>A (n.*374C>A) c.758C>A (p.Ala253Asp) c.650C>A (p.Ala217Asp) c.686C>A (p.Ala229Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91887297_91887298insT | CA2598045186 | FBLN5 | c.*600_*601insA (n.*600_*601insA) c.466_467insA (p.Ala156AspfsTer22) c.808_809insA (p.Ala270AspfsTer22) c.634_635insA (p.Ala212AspfsTer22) n.554_555insA c.*477_*478insA (n.*477_*478insA) c.*373_*374insA (n.*373_*374insA) c.757_758insA (p.Ala253AspfsTer22) c.649_650insA (p.Ala217AspfsTer22) c.685_686insA (p.Ala229AspfsTer22) | gnomAD v3 gnomAD v4 |
14 | g.91887298C>A | CA390642752 | FBLN5 | c.*600G>T (n.*600G>T) c.466G>T (p.Ala156Ser) c.808G>T (p.Ala270Ser) c.634G>T (p.Ala212Ser) n.554G>T c.*477G>T (n.*477G>T) c.*373G>T (n.*373G>T) c.757G>T (p.Ala253Ser) c.649G>T (p.Ala217Ser) c.685G>T (p.Ala229Ser) | |
14 | g.91887298C>G | CA390642753 | FBLN5 | c.*600G>C (n.*600G>C) c.466G>C (p.Ala156Pro) c.808G>C (p.Ala270Pro) c.634G>C (p.Ala212Pro) n.554G>C c.*477G>C (n.*477G>C) c.*373G>C (n.*373G>C) c.757G>C (p.Ala253Pro) c.649G>C (p.Ala217Pro) c.685G>C (p.Ala229Pro) | |
14 | g.91887298C>T | CA390642754 | FBLN5 | c.*600G>A (n.*600G>A) c.466G>A (p.Ala156Thr) c.808G>A (p.Ala270Thr) c.634G>A (p.Ala212Thr) n.554G>A c.*477G>A (n.*477G>A) c.*373G>A (n.*373G>A) c.757G>A (p.Ala253Thr) c.649G>A (p.Ala217Thr) c.685G>A (p.Ala229Thr) | |
14 | g.91887299A>C | CA390642755 | FBLN5 | c.*599T>G (n.*599T>G) c.465T>G (p.Cys155Trp) c.807T>G (p.Cys269Trp) c.633T>G (p.Cys211Trp) n.553T>G c.*476T>G (n.*476T>G) c.*372T>G (n.*372T>G) c.756T>G (p.Cys252Trp) c.648T>G (p.Cys216Trp) c.684T>G (p.Cys228Trp) | |
14 | g.91887299A>G | CA487567209 | FBLN5 | c.*599T>C (n.*599T>C) c.465T>C (p.Cys155=) c.807T>C (p.Cys269=) c.633T>C (p.Cys211=) n.553T>C c.*476T>C (n.*476T>C) c.*372T>C (n.*372T>C) c.756T>C (p.Cys252=) c.648T>C (p.Cys216=) c.684T>C (p.Cys228=) | gnomAD v3 gnomAD v4 |
14 | g.91887299A>T | CA390642756 | FBLN5 | c.*599T>A (n.*599T>A) c.465T>A (p.Cys155Ter) c.807T>A (p.Cys269Ter) c.633T>A (p.Cys211Ter) n.553T>A c.*476T>A (n.*476T>A) c.*372T>A (n.*372T>A) c.756T>A (p.Cys252Ter) c.648T>A (p.Cys216Ter) c.684T>A (p.Cys228Ter) | |
14 | g.91887300C>A | CA390642759 | FBLN5 | c.*598G>T (n.*598G>T) c.464G>T (p.Cys155Phe) c.806G>T (p.Cys269Phe) c.632G>T (p.Cys211Phe) n.552G>T c.*475G>T (n.*475G>T) c.*371G>T (n.*371G>T) c.755G>T (p.Cys252Phe) c.647G>T (p.Cys216Phe) c.683G>T (p.Cys228Phe) | |
14 | g.91887300C>G | CA390642758 | FBLN5 | c.*598G>C (n.*598G>C) c.464G>C (p.Cys155Ser) c.806G>C (p.Cys269Ser) c.632G>C (p.Cys211Ser) n.552G>C c.*475G>C (n.*475G>C) c.*371G>C (n.*371G>C) c.755G>C (p.Cys252Ser) c.647G>C (p.Cys216Ser) c.683G>C (p.Cys228Ser) | |
14 | g.91887300C>T | CA390642757 | FBLN5 | c.*598G>A (n.*598G>A) c.464G>A (p.Cys155Tyr) c.806G>A (p.Cys269Tyr) c.632G>A (p.Cys211Tyr) n.552G>A c.*475G>A (n.*475G>A) c.*371G>A (n.*371G>A) c.755G>A (p.Cys252Tyr) c.647G>A (p.Cys216Tyr) c.683G>A (p.Cys228Tyr) | |
14 | g.91887301A>C | CA390642760 | FBLN5 | c.*597T>G (n.*597T>G) c.463T>G (p.Cys155Gly) c.805T>G (p.Cys269Gly) c.631T>G (p.Cys211Gly) n.551T>G c.*474T>G (n.*474T>G) c.*370T>G (n.*370T>G) c.754T>G (p.Cys252Gly) c.646T>G (p.Cys216Gly) c.682T>G (p.Cys228Gly) | |
14 | g.91887301A>G | CA390642761 | FBLN5 | c.*597T>C (n.*597T>C) c.463T>C (p.Cys155Arg) c.805T>C (p.Cys269Arg) c.631T>C (p.Cys211Arg) n.551T>C c.*474T>C (n.*474T>C) c.*370T>C (n.*370T>C) c.754T>C (p.Cys252Arg) c.646T>C (p.Cys216Arg) c.682T>C (p.Cys228Arg) | |
14 | g.91887301A>T | CA390642762 | FBLN5 | c.*597T>A (n.*597T>A) c.463T>A (p.Cys155Ser) c.805T>A (p.Cys269Ser) c.631T>A (p.Cys211Ser) n.551T>A c.*474T>A (n.*474T>A) c.*370T>A (n.*370T>A) c.754T>A (p.Cys252Ser) c.646T>A (p.Cys216Ser) c.682T>A (p.Cys228Ser) | |
14 | g.91887301_91887303del | CA2598045187 | FBLN5 | c.*595_*597del (n.*595_*597del) c.461_463del (p.Glu154_Cys155delinsGly) c.803_805del (p.Glu268_Cys269delinsGly) c.629_631del (p.Glu210_Cys211delinsGly) n.549_551del c.*472_*474del (n.*472_*474del) c.*368_*370del (n.*368_*370del) c.752_754del (p.Glu251_Cys252delinsGly) c.644_646del (p.Glu215_Cys216delinsGly) c.680_682del (p.Glu227_Cys228delinsGly) | gnomAD v3 gnomAD v4 |
14 | g.91887302C>A | CA390642763 | FBLN5 | c.*596G>T (n.*596G>T) c.462G>T (p.Glu154Asp) c.804G>T (p.Glu268Asp) c.630G>T (p.Glu210Asp) n.550G>T c.*473G>T (n.*473G>T) c.*369G>T (n.*369G>T) c.753G>T (p.Glu251Asp) c.645G>T (p.Glu215Asp) c.681G>T (p.Glu227Asp) | |
14 | g.91887302C= | CA2155153663 | FBLN5 | c.*596G= (n.*596G=) c.462G= (p.Glu154=) c.804G= (p.Glu268=) c.630G= (p.Glu210=) n.550G= c.*473G= (n.*473G=) c.*369G= (n.*369G=) c.753G= (p.Glu251=) c.645G= (p.Glu215=) c.681G= (p.Glu227=) | |
14 | g.91887302C>G | CA390642764 | FBLN5 | c.*596G>C (n.*596G>C) c.462G>C (p.Glu154Asp) c.804G>C (p.Glu268Asp) c.630G>C (p.Glu210Asp) n.550G>C c.*473G>C (n.*473G>C) c.*369G>C (n.*369G>C) c.753G>C (p.Glu251Asp) c.645G>C (p.Glu215Asp) c.681G>C (p.Glu227Asp) | |
14 | g.91887302C>T | CA7312775 | FBLN5 | c.*596G>A (n.*596G>A) c.462G>A (p.Glu154=) c.804G>A (p.Glu268=) c.630G>A (p.Glu210=) n.550G>A c.*473G>A (n.*473G>A) c.*369G>A (n.*369G>A) c.753G>A (p.Glu251=) c.645G>A (p.Glu215=) c.681G>A (p.Glu227=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91887303T>A | CA390642765 | FBLN5 | c.*595A>T (n.*595A>T) c.461A>T (p.Glu154Val) c.803A>T (p.Glu268Val) c.629A>T (p.Glu210Val) n.549A>T c.*472A>T (n.*472A>T) c.*368A>T (n.*368A>T) c.752A>T (p.Glu251Val) c.644A>T (p.Glu215Val) c.680A>T (p.Glu227Val) | |
14 | g.91887303T>C | CA390642767 | FBLN5 | c.*595A>G (n.*595A>G) c.461A>G (p.Glu154Gly) c.803A>G (p.Glu268Gly) c.629A>G (p.Glu210Gly) n.549A>G c.*472A>G (n.*472A>G) c.*368A>G (n.*368A>G) c.752A>G (p.Glu251Gly) c.644A>G (p.Glu215Gly) c.680A>G (p.Glu227Gly) | |
14 | g.91887303T>G | CA390642766 | FBLN5 | c.*595A>C (n.*595A>C) c.461A>C (p.Glu154Ala) c.803A>C (p.Glu268Ala) c.629A>C (p.Glu210Ala) n.549A>C c.*472A>C (n.*472A>C) c.*368A>C (n.*368A>C) c.752A>C (p.Glu251Ala) c.644A>C (p.Glu215Ala) c.680A>C (p.Glu227Ala) | |
14 | g.91887304C>A | CA390642768 | FBLN5 | c.*594G>T (n.*594G>T) c.460G>T (p.Glu154Ter) c.802G>T (p.Glu268Ter) c.628G>T (p.Glu210Ter) n.548G>T c.*471G>T (n.*471G>T) c.*367G>T (n.*367G>T) c.751G>T (p.Glu251Ter) c.643G>T (p.Glu215Ter) c.679G>T (p.Glu227Ter) | |
14 | g.91887304C>G | CA390642769 | FBLN5 | c.*594G>C (n.*594G>C) c.460G>C (p.Glu154Gln) c.802G>C (p.Glu268Gln) c.628G>C (p.Glu210Gln) n.548G>C c.*471G>C (n.*471G>C) c.*367G>C (n.*367G>C) c.751G>C (p.Glu251Gln) c.643G>C (p.Glu215Gln) c.679G>C (p.Glu227Gln) | |
14 | g.91887304C>T | CA390642770 | FBLN5 | c.*594G>A (n.*594G>A) c.460G>A (p.Glu154Lys) c.802G>A (p.Glu268Lys) c.628G>A (p.Glu210Lys) n.548G>A c.*471G>A (n.*471G>A) c.*367G>A (n.*367G>A) c.751G>A (p.Glu251Lys) c.643G>A (p.Glu215Lys) c.679G>A (p.Glu227Lys) | gnomAD v4 COSMIC |
14 | g.91887305G>A | CA7312776 | FBLN5 | c.*593C>T (n.*593C>T) c.459C>T (p.Asn153=) c.801C>T (p.Asn267=) c.627C>T (p.Asn209=) n.547C>T c.*470C>T (n.*470C>T) c.*366C>T (n.*366C>T) c.750C>T (p.Asn250=) c.642C>T (p.Asn214=) c.678C>T (p.Asn226=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91887305G>C | CA7312777 | FBLN5 | c.*593C>G (n.*593C>G) c.459C>G (p.Asn153Lys) c.801C>G (p.Asn267Lys) c.627C>G (p.Asn209Lys) n.547C>G c.*470C>G (n.*470C>G) c.*366C>G (n.*366C>G) c.750C>G (p.Asn250Lys) c.642C>G (p.Asn214Lys) c.678C>G (p.Asn226Lys) | dbSNP ExAC gnomAD v2 |
14 | g.91887305G= | CA2155153668 | FBLN5 | c.*593C= (n.*593C=) c.459C= (p.Asn153=) c.801C= (p.Asn267=) c.627C= (p.Asn209=) n.547C= c.*470C= (n.*470C=) c.*366C= (n.*366C=) c.750C= (p.Asn250=) c.642C= (p.Asn214=) c.678C= (p.Asn226=) | |
14 | g.91887305G>T | CA390642771 | FBLN5 | c.*593C>A (n.*593C>A) c.459C>A (p.Asn153Lys) c.801C>A (p.Asn267Lys) c.627C>A (p.Asn209Lys) n.547C>A c.*470C>A (n.*470C>A) c.*366C>A (n.*366C>A) c.750C>A (p.Asn250Lys) c.642C>A (p.Asn214Lys) c.678C>A (p.Asn226Lys) | |
14 | g.91887306T>A | CA390642772 | FBLN5 | c.*592A>T (n.*592A>T) c.458A>T (p.Asn153Ile) c.800A>T (p.Asn267Ile) c.626A>T (p.Asn209Ile) n.546A>T c.*469A>T (n.*469A>T) c.*365A>T (n.*365A>T) c.749A>T (p.Asn250Ile) c.641A>T (p.Asn214Ile) c.677A>T (p.Asn226Ile) | |
14 | g.91887306T>C | CA390642773 | FBLN5 | c.*592A>G (n.*592A>G) c.458A>G (p.Asn153Ser) c.800A>G (p.Asn267Ser) c.626A>G (p.Asn209Ser) n.546A>G c.*469A>G (n.*469A>G) c.*365A>G (n.*365A>G) c.749A>G (p.Asn250Ser) c.641A>G (p.Asn214Ser) c.677A>G (p.Asn226Ser) | dbSNP |
14 | g.91887306T>G | CA390642774 | FBLN5 | c.*592A>C (n.*592A>C) c.458A>C (p.Asn153Thr) c.800A>C (p.Asn267Thr) c.626A>C (p.Asn209Thr) n.546A>C c.*469A>C (n.*469A>C) c.*365A>C (n.*365A>C) c.749A>C (p.Asn250Thr) c.641A>C (p.Asn214Thr) c.677A>C (p.Asn226Thr) | |
14 | g.91887306T= | CA2155153673 | FBLN5 | c.*592A= (n.*592A=) c.458A= (p.Asn153=) c.800A= (p.Asn267=) c.626A= (p.Asn209=) n.546A= c.*469A= (n.*469A=) c.*365A= (n.*365A=) c.749A= (p.Asn250=) c.641A= (p.Asn214=) c.677A= (p.Asn226=) | |
14 | g.91887306_91887307insA | CA2598045188 | FBLN5 | c.*591_*592insT (n.*591_*592insT) c.457_458insT (p.Asn153IlefsTer25) c.799_800insT (p.Asn267IlefsTer25) c.625_626insT (p.Asn209IlefsTer25) n.545_546insT c.*468_*469insT (n.*468_*469insT) c.*364_*365insT (n.*364_*365insT) c.748_749insT (p.Asn250IlefsTer25) c.640_641insT (p.Asn214IlefsTer25) c.676_677insT (p.Asn226IlefsTer25) | gnomAD v3 gnomAD v4 |
14 | g.91887307T>A | CA390642775 | FBLN5 | c.*591A>T (n.*591A>T) c.457A>T (p.Asn153Tyr) c.799A>T (p.Asn267Tyr) c.625A>T (p.Asn209Tyr) n.545A>T c.*468A>T (n.*468A>T) c.*364A>T (n.*364A>T) c.748A>T (p.Asn250Tyr) c.640A>T (p.Asn214Tyr) c.676A>T (p.Asn226Tyr) | |
14 | g.91887307T>C | CA390642776 | FBLN5 | c.*591A>G (n.*591A>G) c.457A>G (p.Asn153Asp) c.799A>G (p.Asn267Asp) c.625A>G (p.Asn209Asp) n.545A>G c.*468A>G (n.*468A>G) c.*364A>G (n.*364A>G) c.748A>G (p.Asn250Asp) c.640A>G (p.Asn214Asp) c.676A>G (p.Asn226Asp) | |
14 | g.91887307T>G | CA390642777 | FBLN5 | c.*591A>C (n.*591A>C) c.457A>C (p.Asn153His) c.799A>C (p.Asn267His) c.625A>C (p.Asn209His) n.545A>C c.*468A>C (n.*468A>C) c.*364A>C (n.*364A>C) c.748A>C (p.Asn250His) c.640A>C (p.Asn214His) c.676A>C (p.Asn226His) | |
14 | g.91887308C>A | CA487567211 | FBLN5 | c.*590G>T (n.*590G>T) c.456G>T (p.Val152=) c.798G>T (p.Val266=) c.624G>T (p.Val208=) n.544G>T c.*467G>T (n.*467G>T) c.*363G>T (n.*363G>T) c.747G>T (p.Val249=) c.639G>T (p.Val213=) c.675G>T (p.Val225=) | |
14 | g.91887308C>G | CA487567212 | FBLN5 | c.*590G>C (n.*590G>C) c.456G>C (p.Val152=) c.798G>C (p.Val266=) c.624G>C (p.Val208=) n.544G>C c.*467G>C (n.*467G>C) c.*363G>C (n.*363G>C) c.747G>C (p.Val249=) c.639G>C (p.Val213=) c.675G>C (p.Val225=) | |
14 | g.91887308C>T | CA487567210 | FBLN5 | c.*590G>A (n.*590G>A) c.456G>A (p.Val152=) c.798G>A (p.Val266=) c.624G>A (p.Val208=) n.544G>A c.*467G>A (n.*467G>A) c.*363G>A (n.*363G>A) c.747G>A (p.Val249=) c.639G>A (p.Val213=) c.675G>A (p.Val225=) | |
14 | g.91887309A>C | CA390642780 | FBLN5 | c.*589T>G (n.*589T>G) c.455T>G (p.Val152Gly) c.797T>G (p.Val266Gly) c.623T>G (p.Val208Gly) n.543T>G c.*466T>G (n.*466T>G) c.*362T>G (n.*362T>G) c.746T>G (p.Val249Gly) c.638T>G (p.Val213Gly) c.674T>G (p.Val225Gly) | |
14 | g.91887309A>G | CA390642779 | FBLN5 | c.*589T>C (n.*589T>C) c.455T>C (p.Val152Ala) c.797T>C (p.Val266Ala) c.623T>C (p.Val208Ala) n.543T>C c.*466T>C (n.*466T>C) c.*362T>C (n.*362T>C) c.746T>C (p.Val249Ala) c.638T>C (p.Val213Ala) c.674T>C (p.Val225Ala) | |
14 | g.91887309A>T | CA390642778 | FBLN5 | c.*589T>A (n.*589T>A) c.455T>A (p.Val152Glu) c.797T>A (p.Val266Glu) c.623T>A (p.Val208Glu) n.543T>A c.*466T>A (n.*466T>A) c.*362T>A (n.*362T>A) c.746T>A (p.Val249Glu) c.638T>A (p.Val213Glu) c.674T>A (p.Val225Glu) | |
14 | g.91887310C>A | CA265597353 | FBLN5 | c.*588G>T (n.*588G>T) c.454G>T (p.Val152Leu) c.796G>T (p.Val266Leu) c.622G>T (p.Val208Leu) n.542G>T c.*465G>T (n.*465G>T) c.*361G>T (n.*361G>T) c.745G>T (p.Val249Leu) c.637G>T (p.Val213Leu) c.673G>T (p.Val225Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.91887310C= | CA2155153678 | FBLN5 | c.*588G= (n.*588G=) c.454G= (p.Val152=) c.796G= (p.Val266=) c.622G= (p.Val208=) n.542G= c.*465G= (n.*465G=) c.*361G= (n.*361G=) c.745G= (p.Val249=) c.637G= (p.Val213=) c.673G= (p.Val225=) | |
14 | g.91887310C>G | CA390642782 | FBLN5 | c.*588G>C (n.*588G>C) c.454G>C (p.Val152Leu) c.796G>C (p.Val266Leu) c.622G>C (p.Val208Leu) n.542G>C c.*465G>C (n.*465G>C) c.*361G>C (n.*361G>C) c.745G>C (p.Val249Leu) c.637G>C (p.Val213Leu) c.673G>C (p.Val225Leu) | |
14 | g.91887310C>T | CA390642781 | FBLN5 | c.*588G>A (n.*588G>A) c.454G>A (p.Val152Met) c.796G>A (p.Val266Met) c.622G>A (p.Val208Met) n.542G>A c.*465G>A (n.*465G>A) c.*361G>A (n.*361G>A) c.745G>A (p.Val249Met) c.637G>A (p.Val213Met) c.673G>A (p.Val225Met) | gnomAD v4 |
14 | g.91887311A= | CA2155153683 | FBLN5 | c.*587T= (n.*587T=) c.453T= (p.Asp151=) c.795T= (p.Asp265=) c.621T= (p.Asp207=) n.541T= c.*464T= (n.*464T=) c.*360T= (n.*360T=) c.744T= (p.Asp248=) c.636T= (p.Asp212=) c.672T= (p.Asp224=) | |
14 | g.91887311A>C | CA390642783 | FBLN5 | c.*587T>G (n.*587T>G) c.453T>G (p.Asp151Glu) c.795T>G (p.Asp265Glu) c.621T>G (p.Asp207Glu) n.541T>G c.*464T>G (n.*464T>G) c.*360T>G (n.*360T>G) c.744T>G (p.Asp248Glu) c.636T>G (p.Asp212Glu) c.672T>G (p.Asp224Glu) | |
14 | g.91887311A>G | CA7312778 | FBLN5 | c.*587T>C (n.*587T>C) c.453T>C (p.Asp151=) c.795T>C (p.Asp265=) c.621T>C (p.Asp207=) n.541T>C c.*464T>C (n.*464T>C) c.*360T>C (n.*360T>C) c.744T>C (p.Asp248=) c.636T>C (p.Asp212=) c.672T>C (p.Asp224=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91887311A>T | CA390642784 | FBLN5 | c.*587T>A (n.*587T>A) c.453T>A (p.Asp151Glu) c.795T>A (p.Asp265Glu) c.621T>A (p.Asp207Glu) n.541T>A c.*464T>A (n.*464T>A) c.*360T>A (n.*360T>A) c.744T>A (p.Asp248Glu) c.636T>A (p.Asp212Glu) c.672T>A (p.Asp224Glu) | |
14 | g.91887312T>A | CA390642785 | FBLN5 | c.*586A>T (n.*586A>T) c.452A>T (p.Asp151Val) c.794A>T (p.Asp265Val) c.620A>T (p.Asp207Val) n.540A>T c.*463A>T (n.*463A>T) c.*359A>T (n.*359A>T) c.743A>T (p.Asp248Val) c.635A>T (p.Asp212Val) c.671A>T (p.Asp224Val) | |
14 | g.91887312T>C | CA390642786 | FBLN5 | c.*586A>G (n.*586A>G) c.452A>G (p.Asp151Gly) c.794A>G (p.Asp265Gly) c.620A>G (p.Asp207Gly) n.540A>G c.*463A>G (n.*463A>G) c.*359A>G (n.*359A>G) c.743A>G (p.Asp248Gly) c.635A>G (p.Asp212Gly) c.671A>G (p.Asp224Gly) | |
14 | g.91887312T>G | CA390642787 | FBLN5 | c.*586A>C (n.*586A>C) c.452A>C (p.Asp151Ala) c.794A>C (p.Asp265Ala) c.620A>C (p.Asp207Ala) n.540A>C c.*463A>C (n.*463A>C) c.*359A>C (n.*359A>C) c.743A>C (p.Asp248Ala) c.635A>C (p.Asp212Ala) c.671A>C (p.Asp224Ala) | |
14 | g.91887313C>A | CA390642788 | FBLN5 | c.*586-1G>T (n.*586-1G>T) c.452-1G>T (n.452-1G>T) c.794-1G>T (n.794-1G>T) c.620-1G>T (n.620-1G>T) n.540-1G>T c.*463-1G>T (n.*463-1G>T) c.*359-1G>T (n.*359-1G>T) c.743-1G>T (n.743-1G>T) c.635-1G>T (n.635-1G>T) c.671-1G>T (n.671-1G>T) | |
14 | g.91887313C= | CA2155153694 | FBLN5 | c.*586-1G= (n.*586-1G=) c.452-1G= (n.452-1G=) c.794-1G= (n.794-1G=) c.620-1G= (n.620-1G=) n.540-1G= c.*463-1G= (n.*463-1G=) c.*359-1G= (n.*359-1G=) c.743-1G= (n.743-1G=) c.635-1G= (n.635-1G=) c.671-1G= (n.671-1G=) | |
14 | g.91887313C>G | CA390642789 | FBLN5 | c.*586-1G>C (n.*586-1G>C) c.452-1G>C (n.452-1G>C) c.794-1G>C (n.794-1G>C) c.620-1G>C (n.620-1G>C) n.540-1G>C c.*463-1G>C (n.*463-1G>C) c.*359-1G>C (n.*359-1G>C) c.743-1G>C (n.743-1G>C) c.635-1G>C (n.635-1G>C) c.671-1G>C (n.671-1G>C) | |
14 | g.91887313C>T | CA265597358 | FBLN5 | c.*586-1G>A (n.*586-1G>A) c.452-1G>A (n.452-1G>A) c.794-1G>A (n.794-1G>A) c.620-1G>A (n.620-1G>A) n.540-1G>A c.*463-1G>A (n.*463-1G>A) c.*359-1G>A (n.*359-1G>A) c.743-1G>A (n.743-1G>A) c.635-1G>A (n.635-1G>A) c.671-1G>A (n.671-1G>A) | dbSNP COSMIC |
14 | g.91887314T>A | CA390642790 | FBLN5 | c.*586-2A>T (n.*586-2A>T) c.452-2A>T (n.452-2A>T) c.794-2A>T (n.794-2A>T) c.620-2A>T (n.620-2A>T) n.540-2A>T c.*463-2A>T (n.*463-2A>T) c.*359-2A>T (n.*359-2A>T) c.743-2A>T (n.743-2A>T) c.635-2A>T (n.635-2A>T) c.671-2A>T (n.671-2A>T) | |
14 | g.91887314T>C | CA390642791 | FBLN5 | c.*586-2A>G (n.*586-2A>G) c.452-2A>G (n.452-2A>G) c.794-2A>G (n.794-2A>G) c.620-2A>G (n.620-2A>G) n.540-2A>G c.*463-2A>G (n.*463-2A>G) c.*359-2A>G (n.*359-2A>G) c.743-2A>G (n.743-2A>G) c.635-2A>G (n.635-2A>G) c.671-2A>G (n.671-2A>G) | |
14 | g.91887314T>G | CA390642792 | FBLN5 | c.*586-2A>C (n.*586-2A>C) c.452-2A>C (n.452-2A>C) c.794-2A>C (n.794-2A>C) c.620-2A>C (n.620-2A>C) n.540-2A>C c.*463-2A>C (n.*463-2A>C) c.*359-2A>C (n.*359-2A>C) c.743-2A>C (n.743-2A>C) c.635-2A>C (n.635-2A>C) c.671-2A>C (n.671-2A>C) | |
14 | g.91887315G>T | CA2626159508 | FBLN5 | c.*586-3C>A (n.*586-3C>A) c.452-3C>A (n.452-3C>A) c.794-3C>A (n.794-3C>A) c.620-3C>A (n.620-3C>A) n.540-3C>A c.*463-3C>A (n.*463-3C>A) c.*359-3C>A (n.*359-3C>A) c.743-3C>A (n.743-3C>A) c.635-3C>A (n.635-3C>A) c.671-3C>A (n.671-3C>A) | gnomAD v4 |
14 | g.91887317G>T | CA2626159509 | FBLN5 | c.*586-5C>A (n.*586-5C>A) c.452-5C>A (n.452-5C>A) c.794-5C>A (n.794-5C>A) c.620-5C>A (n.620-5C>A) n.540-5C>A c.*463-5C>A (n.*463-5C>A) c.*359-5C>A (n.*359-5C>A) c.743-5C>A (n.743-5C>A) c.635-5C>A (n.635-5C>A) c.671-5C>A (n.671-5C>A) | gnomAD v4 |
14 | g.91887318G>A | CA2626159510 | FBLN5 | c.*586-6C>T (n.*586-6C>T) c.452-6C>T (n.452-6C>T) c.794-6C>T (n.794-6C>T) c.620-6C>T (n.620-6C>T) n.540-6C>T c.*463-6C>T (n.*463-6C>T) c.*359-6C>T (n.*359-6C>T) c.743-6C>T (n.743-6C>T) c.635-6C>T (n.635-6C>T) c.671-6C>T (n.671-6C>T) | gnomAD v4 |
14 | g.91887321del | CA2499222782 | FBLN5 | c.*586-7del (n.*586-7del) c.452-7del (n.452-7del) c.794-7del (n.794-7del) c.620-7del (n.620-7del) n.540-7del c.*463-7del (n.*463-7del) c.*359-7del (n.*359-7del) c.743-7del (n.743-7del) c.635-7del (n.635-7del) c.671-7del (n.671-7del) | ClinVar dbSNP gnomAD v4 |
14 | g.91887320A= | CA2155153700 | FBLN5 | c.*586-8T= (n.*586-8T=) c.452-8T= (n.452-8T=) c.794-8T= (n.794-8T=) c.620-8T= (n.620-8T=) n.540-8T= c.*463-8T= (n.*463-8T=) c.*359-8T= (n.*359-8T=) c.743-8T= (n.743-8T=) c.635-8T= (n.635-8T=) c.671-8T= (n.671-8T=) | |
14 | g.91887320A>G | CA7312779 | FBLN5 | c.*586-8T>C (n.*586-8T>C) c.452-8T>C (n.452-8T>C) c.794-8T>C (n.794-8T>C) c.620-8T>C (n.620-8T>C) n.540-8T>C c.*463-8T>C (n.*463-8T>C) c.*359-8T>C (n.*359-8T>C) c.743-8T>C (n.743-8T>C) c.635-8T>C (n.635-8T>C) c.671-8T>C (n.671-8T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91887322G>A | CA2598045190 | FBLN5 | c.*586-10C>T (n.*586-10C>T) c.452-10C>T (n.452-10C>T) c.794-10C>T (n.794-10C>T) c.620-10C>T (n.620-10C>T) n.540-10C>T c.*463-10C>T (n.*463-10C>T) c.*359-10C>T (n.*359-10C>T) c.743-10C>T (n.743-10C>T) c.635-10C>T (n.635-10C>T) c.671-10C>T (n.671-10C>T) | gnomAD v3 gnomAD v4 |
14 | g.91887322G>T | CA2626159514 | FBLN5 | c.*586-10C>A (n.*586-10C>A) c.452-10C>A (n.452-10C>A) c.794-10C>A (n.794-10C>A) c.620-10C>A (n.620-10C>A) n.540-10C>A c.*463-10C>A (n.*463-10C>A) c.*359-10C>A (n.*359-10C>A) c.743-10C>A (n.743-10C>A) c.635-10C>A (n.635-10C>A) c.671-10C>A (n.671-10C>A) | gnomAD v4 |
14 | g.91887323C= | CA2155153703 | FBLN5 | c.*586-11G= (n.*586-11G=) c.452-11G= (n.452-11G=) c.794-11G= (n.794-11G=) c.620-11G= (n.620-11G=) n.540-11G= c.*463-11G= (n.*463-11G=) c.*359-11G= (n.*359-11G=) c.743-11G= (n.743-11G=) c.635-11G= (n.635-11G=) c.671-11G= (n.671-11G=) | |
14 | g.91887323C>T | CA615754192 | FBLN5 | c.*586-11G>A (n.*586-11G>A) c.452-11G>A (n.452-11G>A) c.794-11G>A (n.794-11G>A) c.620-11G>A (n.620-11G>A) n.540-11G>A c.*463-11G>A (n.*463-11G>A) c.*359-11G>A (n.*359-11G>A) c.743-11G>A (n.743-11G>A) c.635-11G>A (n.635-11G>A) c.671-11G>A (n.671-11G>A) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91887324C= | CA2155153707 | FBLN5 | c.*586-12G= (n.*586-12G=) c.452-12G= (n.452-12G=) c.794-12G= (n.794-12G=) c.620-12G= (n.620-12G=) n.540-12G= c.*463-12G= (n.*463-12G=) c.*359-12G= (n.*359-12G=) c.743-12G= (n.743-12G=) c.635-12G= (n.635-12G=) c.671-12G= (n.671-12G=) | |
14 | g.91887324C>G | CA709923094 | FBLN5 | c.*586-12G>C (n.*586-12G>C) c.452-12G>C (n.452-12G>C) c.794-12G>C (n.794-12G>C) c.620-12G>C (n.620-12G>C) n.540-12G>C c.*463-12G>C (n.*463-12G>C) c.*359-12G>C (n.*359-12G>C) c.743-12G>C (n.743-12G>C) c.635-12G>C (n.635-12G>C) c.671-12G>C (n.671-12G>C) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91887327G>T | CA656045834 | FBLN5 | c.*586-15C>A (n.*586-15C>A) c.452-15C>A (n.452-15C>A) c.794-15C>A (n.794-15C>A) c.620-15C>A (n.620-15C>A) n.540-15C>A c.*463-15C>A (n.*463-15C>A) c.*359-15C>A (n.*359-15C>A) c.743-15C>A (n.743-15C>A) c.635-15C>A (n.635-15C>A) c.671-15C>A (n.671-15C>A) | gnomAD v4 COSMIC |
14 | g.91887328G>A | CA615754194 | FBLN5 | c.*586-16C>T (n.*586-16C>T) c.452-16C>T (n.452-16C>T) c.794-16C>T (n.794-16C>T) c.620-16C>T (n.620-16C>T) n.540-16C>T c.*463-16C>T (n.*463-16C>T) c.*359-16C>T (n.*359-16C>T) c.743-16C>T (n.743-16C>T) c.635-16C>T (n.635-16C>T) c.671-16C>T (n.671-16C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91887328G= | CA2155153714 | FBLN5 | c.*586-16C= (n.*586-16C=) c.452-16C= (n.452-16C=) c.794-16C= (n.794-16C=) c.620-16C= (n.620-16C=) n.540-16C= c.*463-16C= (n.*463-16C=) c.*359-16C= (n.*359-16C=) c.743-16C= (n.743-16C=) c.635-16C= (n.635-16C=) c.671-16C= (n.671-16C=) | |
14 | g.91887330A= | CA2155153724 | FBLN5 | c.*586-18T= (n.*586-18T=) c.452-18T= (n.452-18T=) c.794-18T= (n.794-18T=) c.620-18T= (n.620-18T=) n.540-18T= c.*463-18T= (n.*463-18T=) c.*359-18T= (n.*359-18T=) c.743-18T= (n.743-18T=) c.635-18T= (n.635-18T=) c.671-18T= (n.671-18T=) | |
14 | g.91887330A>C | CA709923095 | FBLN5 | c.*586-18T>G (n.*586-18T>G) c.452-18T>G (n.452-18T>G) c.794-18T>G (n.794-18T>G) c.620-18T>G (n.620-18T>G) n.540-18T>G c.*463-18T>G (n.*463-18T>G) c.*359-18T>G (n.*359-18T>G) c.743-18T>G (n.743-18T>G) c.635-18T>G (n.635-18T>G) c.671-18T>G (n.671-18T>G) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91887331C>T | CA2626159518 | FBLN5 | c.*586-19G>A (n.*586-19G>A) c.452-19G>A (n.452-19G>A) c.794-19G>A (n.794-19G>A) c.620-19G>A (n.620-19G>A) n.540-19G>A c.*463-19G>A (n.*463-19G>A) c.*359-19G>A (n.*359-19G>A) c.743-19G>A (n.743-19G>A) c.635-19G>A (n.635-19G>A) c.671-19G>A (n.671-19G>A) | gnomAD v4 |
14 | g.91887332A>G | CA2626159519 | FBLN5 | c.*586-20T>C (n.*586-20T>C) c.452-20T>C (n.452-20T>C) c.794-20T>C (n.794-20T>C) c.620-20T>C (n.620-20T>C) n.540-20T>C c.*463-20T>C (n.*463-20T>C) c.*359-20T>C (n.*359-20T>C) c.743-20T>C (n.743-20T>C) c.635-20T>C (n.635-20T>C) c.671-20T>C (n.671-20T>C) | gnomAD v4 |
14 | g.91887333T>C | CA615754195 | FBLN5 | c.*586-21A>G (n.*586-21A>G) c.452-21A>G (n.452-21A>G) c.794-21A>G (n.794-21A>G) c.620-21A>G (n.620-21A>G) n.540-21A>G c.*463-21A>G (n.*463-21A>G) c.*359-21A>G (n.*359-21A>G) c.743-21A>G (n.743-21A>G) c.635-21A>G (n.635-21A>G) c.671-21A>G (n.671-21A>G) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91887333T>G | CA2626159521 | FBLN5 | c.*586-21A>C (n.*586-21A>C) c.452-21A>C (n.452-21A>C) c.794-21A>C (n.794-21A>C) c.620-21A>C (n.620-21A>C) n.540-21A>C c.*463-21A>C (n.*463-21A>C) c.*359-21A>C (n.*359-21A>C) c.743-21A>C (n.743-21A>C) c.635-21A>C (n.635-21A>C) c.671-21A>C (n.671-21A>C) | gnomAD v4 |
14 | g.91887333T= | CA2155153729 | FBLN5 | c.*586-21A= (n.*586-21A=) c.452-21A= (n.452-21A=) c.794-21A= (n.794-21A=) c.620-21A= (n.620-21A=) n.540-21A= c.*463-21A= (n.*463-21A=) c.*359-21A= (n.*359-21A=) c.743-21A= (n.743-21A=) c.635-21A= (n.635-21A=) c.671-21A= (n.671-21A=) | |
14 | g.91887335G= | CA2155153732 | FBLN5 | c.*586-23C= (n.*586-23C=) c.452-23C= (n.452-23C=) c.794-23C= (n.794-23C=) c.620-23C= (n.620-23C=) n.540-23C= c.*463-23C= (n.*463-23C=) c.*359-23C= (n.*359-23C=) c.743-23C= (n.743-23C=) c.635-23C= (n.635-23C=) c.671-23C= (n.671-23C=) | |
14 | g.91887335G>T | CA709923101 | FBLN5 | c.*586-23C>A (n.*586-23C>A) c.452-23C>A (n.452-23C>A) c.794-23C>A (n.794-23C>A) c.620-23C>A (n.620-23C>A) n.540-23C>A c.*463-23C>A (n.*463-23C>A) c.*359-23C>A (n.*359-23C>A) c.743-23C>A (n.743-23C>A) c.635-23C>A (n.635-23C>A) c.671-23C>A (n.671-23C>A) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91887336C= | CA2155153736 | FBLN5 | c.*586-24G= (n.*586-24G=) c.452-24G= (n.452-24G=) c.794-24G= (n.794-24G=) c.620-24G= (n.620-24G=) n.540-24G= c.*463-24G= (n.*463-24G=) c.*359-24G= (n.*359-24G=) c.743-24G= (n.743-24G=) c.635-24G= (n.635-24G=) c.671-24G= (n.671-24G=) | |
14 | g.91887336C>T | CA2155153741 | FBLN5 | c.*586-24G>A (n.*586-24G>A) c.452-24G>A (n.452-24G>A) c.794-24G>A (n.794-24G>A) c.620-24G>A (n.620-24G>A) n.540-24G>A c.*463-24G>A (n.*463-24G>A) c.*359-24G>A (n.*359-24G>A) c.743-24G>A (n.743-24G>A) c.635-24G>A (n.635-24G>A) c.671-24G>A (n.671-24G>A) | dbSNP gnomAD v4 |
14 | g.91887336_91887338delinsCTG | CA2155153734 | FBLN5 | c.*586-26_*586-24delinsCAG (n.*586-26_*586-24delinsCAG) c.452-26_452-24delinsCAG (n.452-26_452-24delinsCAG) c.794-26_794-24delinsCAG (n.794-26_794-24delinsCAG) c.620-26_620-24delinsCAG (n.620-26_620-24delinsCAG) n.540-26_540-24delinsCAG c.*463-26_*463-24delinsCAG (n.*463-26_*463-24delinsCAG) c.*359-26_*359-24delinsCAG (n.*359-26_*359-24delinsCAG) c.743-26_743-24delinsCAG (n.743-26_743-24delinsCAG) c.635-26_635-24delinsCAG (n.635-26_635-24delinsCAG) c.671-26_671-24delinsCAG (n.671-26_671-24delinsCAG) | |
14 | g.91887337_91887338del | CA7312780 | FBLN5 | c.*586-26_*586-25del (n.*586-26_*586-25del) c.452-26_452-25del (n.452-26_452-25del) c.794-26_794-25del (n.794-26_794-25del) c.620-26_620-25del (n.620-26_620-25del) n.540-26_540-25del c.*463-26_*463-25del (n.*463-26_*463-25del) c.*359-26_*359-25del (n.*359-26_*359-25del) c.743-26_743-25del (n.743-26_743-25del) c.635-26_635-25del (n.635-26_635-25del) c.671-26_671-25del (n.671-26_671-25del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91887338G= | CA2155153751 | FBLN5 | c.*586-26C= (n.*586-26C=) c.452-26C= (n.452-26C=) c.794-26C= (n.794-26C=) c.620-26C= (n.620-26C=) n.540-26C= c.*463-26C= (n.*463-26C=) c.*359-26C= (n.*359-26C=) c.743-26C= (n.743-26C=) c.635-26C= (n.635-26C=) c.671-26C= (n.671-26C=) | |
14 | g.91887338G>T | CA2626159523 | FBLN5 | c.*586-26C>A (n.*586-26C>A) c.452-26C>A (n.452-26C>A) c.794-26C>A (n.794-26C>A) c.620-26C>A (n.620-26C>A) n.540-26C>A c.*463-26C>A (n.*463-26C>A) c.*359-26C>A (n.*359-26C>A) c.743-26C>A (n.743-26C>A) c.635-26C>A (n.635-26C>A) c.671-26C>A (n.671-26C>A) | gnomAD v4 |
14 | g.91887339_91887340insAAA | CA7312781 | FBLN5 | c.*586-27_*586-26insTTT (n.*586-27_*586-26insTTT) c.452-27_452-26insTTT (n.452-27_452-26insTTT) c.794-27_794-26insTTT (n.794-27_794-26insTTT) c.620-27_620-26insTTT (n.620-27_620-26insTTT) n.540-27_540-26insTTT c.*463-27_*463-26insTTT (n.*463-27_*463-26insTTT) c.*359-27_*359-26insTTT (n.*359-27_*359-26insTTT) c.743-27_743-26insTTT (n.743-27_743-26insTTT) c.635-27_635-26insTTT (n.635-27_635-26insTTT) c.671-27_671-26insTTT (n.671-27_671-26insTTT) | dbSNP ExAC gnomAD v2 |
14 | g.91887340C= | CA2155153752 | FBLN5 | c.*586-28G= (n.*586-28G=) c.452-28G= (n.452-28G=) c.794-28G= (n.794-28G=) c.620-28G= (n.620-28G=) n.540-28G= c.*463-28G= (n.*463-28G=) c.*359-28G= (n.*359-28G=) c.743-28G= (n.743-28G=) c.635-28G= (n.635-28G=) c.671-28G= (n.671-28G=) | |
14 | g.91887340C>G | CA709923104 | FBLN5 | c.*586-28G>C (n.*586-28G>C) c.452-28G>C (n.452-28G>C) c.794-28G>C (n.794-28G>C) c.620-28G>C (n.620-28G>C) n.540-28G>C c.*463-28G>C (n.*463-28G>C) c.*359-28G>C (n.*359-28G>C) c.743-28G>C (n.743-28G>C) c.635-28G>C (n.635-28G>C) c.671-28G>C (n.671-28G>C) | dbSNP |
14 | g.91887340C>T | CA2626159524 | FBLN5 | c.*586-28G>A (n.*586-28G>A) c.452-28G>A (n.452-28G>A) c.794-28G>A (n.794-28G>A) c.620-28G>A (n.620-28G>A) n.540-28G>A c.*463-28G>A (n.*463-28G>A) c.*359-28G>A (n.*359-28G>A) c.743-28G>A (n.743-28G>A) c.635-28G>A (n.635-28G>A) c.671-28G>A (n.671-28G>A) | gnomAD v4 |
14 | g.91887342G>T | CA2626159525 | FBLN5 | c.*586-30C>A (n.*586-30C>A) c.452-30C>A (n.452-30C>A) c.794-30C>A (n.794-30C>A) c.620-30C>A (n.620-30C>A) n.540-30C>A c.*463-30C>A (n.*463-30C>A) c.*359-30C>A (n.*359-30C>A) c.743-30C>A (n.743-30C>A) c.635-30C>A (n.635-30C>A) c.671-30C>A (n.671-30C>A) | gnomAD v4 |
14 | g.91887343T>C | CA2626159526 | FBLN5 | c.*586-31A>G (n.*586-31A>G) c.452-31A>G (n.452-31A>G) c.794-31A>G (n.794-31A>G) c.620-31A>G (n.620-31A>G) n.540-31A>G c.*463-31A>G (n.*463-31A>G) c.*359-31A>G (n.*359-31A>G) c.743-31A>G (n.743-31A>G) c.635-31A>G (n.635-31A>G) c.671-31A>G (n.671-31A>G) | gnomAD v4 |
14 | g.91887343T>G | CA7312782 | FBLN5 | c.*586-31A>C (n.*586-31A>C) c.452-31A>C (n.452-31A>C) c.794-31A>C (n.794-31A>C) c.620-31A>C (n.620-31A>C) n.540-31A>C c.*463-31A>C (n.*463-31A>C) c.*359-31A>C (n.*359-31A>C) c.743-31A>C (n.743-31A>C) c.635-31A>C (n.635-31A>C) c.671-31A>C (n.671-31A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91887343T= | CA2155153755 | FBLN5 | c.*586-31A= (n.*586-31A=) c.452-31A= (n.452-31A=) c.794-31A= (n.794-31A=) c.620-31A= (n.620-31A=) n.540-31A= c.*463-31A= (n.*463-31A=) c.*359-31A= (n.*359-31A=) c.743-31A= (n.743-31A=) c.635-31A= (n.635-31A=) c.671-31A= (n.671-31A=) | |
14 | g.91887345C>T | CA2626159527 | FBLN5 | c.*586-33G>A (n.*586-33G>A) c.452-33G>A (n.452-33G>A) c.794-33G>A (n.794-33G>A) c.620-33G>A (n.620-33G>A) n.540-33G>A c.*463-33G>A (n.*463-33G>A) c.*359-33G>A (n.*359-33G>A) c.743-33G>A (n.743-33G>A) c.635-33G>A (n.635-33G>A) c.671-33G>A (n.671-33G>A) | gnomAD v4 |
14 | g.91887345_91887346insATT | CA2847038145 | FBLN5 | c.*586-34_*586-33insAAT (n.*586-34_*586-33insAAT) c.452-34_452-33insAAT (n.452-34_452-33insAAT) c.794-34_794-33insAAT (n.794-34_794-33insAAT) c.620-34_620-33insAAT (n.620-34_620-33insAAT) n.540-34_540-33insAAT c.*463-34_*463-33insAAT (n.*463-34_*463-33insAAT) c.*359-34_*359-33insAAT (n.*359-34_*359-33insAAT) c.743-34_743-33insAAT (n.743-34_743-33insAAT) c.635-34_635-33insAAT (n.635-34_635-33insAAT) c.671-34_671-33insAAT (n.671-34_671-33insAAT) | |
14 | g.91887346T>C | CA7312783 | FBLN5 | c.*586-34A>G (n.*586-34A>G) c.452-34A>G (n.452-34A>G) c.794-34A>G (n.794-34A>G) c.620-34A>G (n.620-34A>G) n.540-34A>G c.*463-34A>G (n.*463-34A>G) c.*359-34A>G (n.*359-34A>G) c.743-34A>G (n.743-34A>G) c.635-34A>G (n.635-34A>G) c.671-34A>G (n.671-34A>G) | dbSNP ExAC gnomAD v2 |
14 | g.91887346T= | CA2155153756 | FBLN5 | c.*586-34A= (n.*586-34A=) c.452-34A= (n.452-34A=) c.794-34A= (n.794-34A=) c.620-34A= (n.620-34A=) n.540-34A= c.*463-34A= (n.*463-34A=) c.*359-34A= (n.*359-34A=) c.743-34A= (n.743-34A=) c.635-34A= (n.635-34A=) c.671-34A= (n.671-34A=) | |
14 | g.91887347C= | CA2155153758 | FBLN5 | c.*586-35G= (n.*586-35G=) c.452-35G= (n.452-35G=) c.794-35G= (n.794-35G=) c.620-35G= (n.620-35G=) n.540-35G= c.*463-35G= (n.*463-35G=) c.*359-35G= (n.*359-35G=) c.743-35G= (n.743-35G=) c.635-35G= (n.635-35G=) c.671-35G= (n.671-35G=) | |
14 | g.91887347C>T | CA615754198 | FBLN5 | c.*586-35G>A (n.*586-35G>A) c.452-35G>A (n.452-35G>A) c.794-35G>A (n.794-35G>A) c.620-35G>A (n.620-35G>A) n.540-35G>A c.*463-35G>A (n.*463-35G>A) c.*359-35G>A (n.*359-35G>A) c.743-35G>A (n.743-35G>A) c.635-35G>A (n.635-35G>A) c.671-35G>A (n.671-35G>A) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91887348C>A | CA2839517141 | FBLN5 | c.*586-36G>T (n.*586-36G>T) c.452-36G>T (n.452-36G>T) c.794-36G>T (n.794-36G>T) c.620-36G>T (n.620-36G>T) n.540-36G>T c.*463-36G>T (n.*463-36G>T) c.*359-36G>T (n.*359-36G>T) c.743-36G>T (n.743-36G>T) c.635-36G>T (n.635-36G>T) c.671-36G>T (n.671-36G>T) | |
14 | g.91887348C= | CA2155153762 | FBLN5 | c.*586-36G= (n.*586-36G=) c.452-36G= (n.452-36G=) c.794-36G= (n.794-36G=) c.620-36G= (n.620-36G=) n.540-36G= c.*463-36G= (n.*463-36G=) c.*359-36G= (n.*359-36G=) c.743-36G= (n.743-36G=) c.635-36G= (n.635-36G=) c.671-36G= (n.671-36G=) | |
14 | g.91887348C>T | CA2155153763 | FBLN5 | c.*586-36G>A (n.*586-36G>A) c.452-36G>A (n.452-36G>A) c.794-36G>A (n.794-36G>A) c.620-36G>A (n.620-36G>A) n.540-36G>A c.*463-36G>A (n.*463-36G>A) c.*359-36G>A (n.*359-36G>A) c.743-36G>A (n.743-36G>A) c.635-36G>A (n.635-36G>A) c.671-36G>A (n.671-36G>A) | dbSNP gnomAD v4 |
14 | g.91887349C>A | CA2575605338 | FBLN5 | c.*586-37G>T (n.*586-37G>T) c.452-37G>T (n.452-37G>T) c.794-37G>T (n.794-37G>T) c.620-37G>T (n.620-37G>T) n.540-37G>T c.*463-37G>T (n.*463-37G>T) c.*359-37G>T (n.*359-37G>T) c.743-37G>T (n.743-37G>T) c.635-37G>T (n.635-37G>T) c.671-37G>T (n.671-37G>T) | |
14 | g.91887351A= | CA2155153765 | FBLN5 | c.*586-39T= (n.*586-39T=) c.452-39T= (n.452-39T=) c.794-39T= (n.794-39T=) c.620-39T= (n.620-39T=) n.540-39T= c.*463-39T= (n.*463-39T=) c.*359-39T= (n.*359-39T=) c.743-39T= (n.743-39T=) c.635-39T= (n.635-39T=) c.671-39T= (n.671-39T=) | |
14 | g.91887351A>G | CA7312784 | FBLN5 | c.*586-39T>C (n.*586-39T>C) c.452-39T>C (n.452-39T>C) c.794-39T>C (n.794-39T>C) c.620-39T>C (n.620-39T>C) n.540-39T>C c.*463-39T>C (n.*463-39T>C) c.*359-39T>C (n.*359-39T>C) c.743-39T>C (n.743-39T>C) c.635-39T>C (n.635-39T>C) c.671-39T>C (n.671-39T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91887352C>G | CA2626159528 | FBLN5 | c.*586-40G>C (n.*586-40G>C) c.452-40G>C (n.452-40G>C) c.794-40G>C (n.794-40G>C) c.620-40G>C (n.620-40G>C) n.540-40G>C c.*463-40G>C (n.*463-40G>C) c.*359-40G>C (n.*359-40G>C) c.743-40G>C (n.743-40G>C) c.635-40G>C (n.635-40G>C) c.671-40G>C (n.671-40G>C) | gnomAD v4 |
14 | g.91887352C>T | CA2575605339 | FBLN5 | c.*586-40G>A (n.*586-40G>A) c.452-40G>A (n.452-40G>A) c.794-40G>A (n.794-40G>A) c.620-40G>A (n.620-40G>A) n.540-40G>A c.*463-40G>A (n.*463-40G>A) c.*359-40G>A (n.*359-40G>A) c.743-40G>A (n.743-40G>A) c.635-40G>A (n.635-40G>A) c.671-40G>A (n.671-40G>A) | |
14 | g.91887353A= | CA2155153774 | FBLN5 | c.*586-41T= (n.*586-41T=) c.452-41T= (n.452-41T=) c.794-41T= (n.794-41T=) c.620-41T= (n.620-41T=) n.540-41T= c.*463-41T= (n.*463-41T=) c.*359-41T= (n.*359-41T=) c.743-41T= (n.743-41T=) c.635-41T= (n.635-41T=) c.671-41T= (n.671-41T=) | |
14 | g.91887353A>G | CA615754201 | FBLN5 | c.*586-41T>C (n.*586-41T>C) c.452-41T>C (n.452-41T>C) c.794-41T>C (n.794-41T>C) c.620-41T>C (n.620-41T>C) n.540-41T>C c.*463-41T>C (n.*463-41T>C) c.*359-41T>C (n.*359-41T>C) c.743-41T>C (n.743-41T>C) c.635-41T>C (n.635-41T>C) c.671-41T>C (n.671-41T>C) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91887354G>A | CA7312786 | FBLN5 | c.*586-42C>T (n.*586-42C>T) c.452-42C>T (n.452-42C>T) c.794-42C>T (n.794-42C>T) c.620-42C>T (n.620-42C>T) n.540-42C>T c.*463-42C>T (n.*463-42C>T) c.*359-42C>T (n.*359-42C>T) c.743-42C>T (n.743-42C>T) c.635-42C>T (n.635-42C>T) c.671-42C>T (n.671-42C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91887354G>C | CA7312785 | FBLN5 | c.*586-42C>G (n.*586-42C>G) c.452-42C>G (n.452-42C>G) c.794-42C>G (n.794-42C>G) c.620-42C>G (n.620-42C>G) n.540-42C>G c.*463-42C>G (n.*463-42C>G) c.*359-42C>G (n.*359-42C>G) c.743-42C>G (n.743-42C>G) c.635-42C>G (n.635-42C>G) c.671-42C>G (n.671-42C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91887354G= | CA2155153777 | FBLN5 | c.*586-42C= (n.*586-42C=) c.452-42C= (n.452-42C=) c.794-42C= (n.794-42C=) c.620-42C= (n.620-42C=) n.540-42C= c.*463-42C= (n.*463-42C=) c.*359-42C= (n.*359-42C=) c.743-42C= (n.743-42C=) c.635-42C= (n.635-42C=) c.671-42C= (n.671-42C=) | |
14 | g.91887354G>T | CA2626159529 | FBLN5 | c.*586-42C>A (n.*586-42C>A) c.452-42C>A (n.452-42C>A) c.794-42C>A (n.794-42C>A) c.620-42C>A (n.620-42C>A) n.540-42C>A c.*463-42C>A (n.*463-42C>A) c.*359-42C>A (n.*359-42C>A) c.743-42C>A (n.743-42C>A) c.635-42C>A (n.635-42C>A) c.671-42C>A (n.671-42C>A) | gnomAD v4 |
14 | g.91887356dup | CA2840296132 | FBLN5 | c.*586-43dup (n.*586-43dup) c.452-43dup (n.452-43dup) c.794-43dup (n.794-43dup) c.620-43dup (n.620-43dup) n.540-43dup c.*463-43dup (n.*463-43dup) c.*359-43dup (n.*359-43dup) c.743-43dup (n.743-43dup) c.635-43dup (n.635-43dup) c.671-43dup (n.671-43dup) | |
14 | g.91887356A= | CA2155153779 | FBLN5 | c.*586-44T= (n.*586-44T=) c.452-44T= (n.452-44T=) c.794-44T= (n.794-44T=) c.620-44T= (n.620-44T=) n.540-44T= c.*463-44T= (n.*463-44T=) c.*359-44T= (n.*359-44T=) c.743-44T= (n.743-44T=) c.635-44T= (n.635-44T=) c.671-44T= (n.671-44T=) | |
14 | g.91887356A>C | CA7312787 | FBLN5 | c.*586-44T>G (n.*586-44T>G) c.452-44T>G (n.452-44T>G) c.794-44T>G (n.794-44T>G) c.620-44T>G (n.620-44T>G) n.540-44T>G c.*463-44T>G (n.*463-44T>G) c.*359-44T>G (n.*359-44T>G) c.743-44T>G (n.743-44T>G) c.635-44T>G (n.635-44T>G) c.671-44T>G (n.671-44T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91887356A>G | CA709923116 | FBLN5 | c.*586-44T>C (n.*586-44T>C) c.452-44T>C (n.452-44T>C) c.794-44T>C (n.794-44T>C) c.620-44T>C (n.620-44T>C) n.540-44T>C c.*463-44T>C (n.*463-44T>C) c.*359-44T>C (n.*359-44T>C) c.743-44T>C (n.743-44T>C) c.635-44T>C (n.635-44T>C) c.671-44T>C (n.671-44T>C) | dbSNP gnomAD v3 gnomAD v4 |