UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.91887180G>A | CA7312752 | FBLN5 | c.*705+13C>T (n.*705+13C>T) c.571+13C>T (n.571+13C>T) c.913+13C>T (n.913+13C>T) c.739+13C>T (n.739+13C>T) n.659+13C>T c.*582+13C>T (n.*582+13C>T) c.*478+13C>T (n.*478+13C>T) c.862+13C>T (n.862+13C>T) c.754+13C>T (n.754+13C>T) c.790+13C>T (n.790+13C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91887180G>C | CA2729868272 | FBLN5 | c.*705+13C>G (n.*705+13C>G) c.571+13C>G (n.571+13C>G) c.913+13C>G (n.913+13C>G) c.739+13C>G (n.739+13C>G) n.659+13C>G c.*582+13C>G (n.*582+13C>G) c.*478+13C>G (n.*478+13C>G) c.862+13C>G (n.862+13C>G) c.754+13C>G (n.754+13C>G) c.790+13C>G (n.790+13C>G) | dbSNP |
| 14 | g.91887180G= | CA2155153311 | FBLN5 | c.*705+13C= (n.*705+13C=) c.571+13C= (n.571+13C=) c.913+13C= (n.913+13C=) c.739+13C= (n.739+13C=) n.659+13C= c.*582+13C= (n.*582+13C=) c.*478+13C= (n.*478+13C=) c.862+13C= (n.862+13C=) c.754+13C= (n.754+13C=) c.790+13C= (n.790+13C=) | |
| 14 | g.91887180_91887182dup | CA615754119 | FBLN5 | c.*705+11_*705+13dup (n.*705+11_*705+13dup) c.571+11_571+13dup (n.571+11_571+13dup) c.913+11_913+13dup (n.913+11_913+13dup) c.739+11_739+13dup (n.739+11_739+13dup) n.659+11_659+13dup c.*582+11_*582+13dup (n.*582+11_*582+13dup) c.*478+11_*478+13dup (n.*478+11_*478+13dup) c.862+11_862+13dup (n.862+11_862+13dup) c.754+11_754+13dup (n.754+11_754+13dup) c.790+11_790+13dup (n.790+11_790+13dup) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91887182A= | CA2155153316 | FBLN5 | c.*705+11T= (n.*705+11T=) c.571+11T= (n.571+11T=) c.913+11T= (n.913+11T=) c.739+11T= (n.739+11T=) n.659+11T= c.*582+11T= (n.*582+11T=) c.*478+11T= (n.*478+11T=) c.862+11T= (n.862+11T=) c.754+11T= (n.754+11T=) c.790+11T= (n.790+11T=) | |
| 14 | g.91887182A>C | CA265597293 | FBLN5 | c.*705+11T>G (n.*705+11T>G) c.571+11T>G (n.571+11T>G) c.913+11T>G (n.913+11T>G) c.739+11T>G (n.739+11T>G) n.659+11T>G c.*582+11T>G (n.*582+11T>G) c.*478+11T>G (n.*478+11T>G) c.862+11T>G (n.862+11T>G) c.754+11T>G (n.754+11T>G) c.790+11T>G (n.790+11T>G) | dbSNP |
| 14 | g.91887182A>G | CA2580088917 | FBLN5 | c.*705+11T>C (n.*705+11T>C) c.571+11T>C (n.571+11T>C) c.913+11T>C (n.913+11T>C) c.739+11T>C (n.739+11T>C) n.659+11T>C c.*582+11T>C (n.*582+11T>C) c.*478+11T>C (n.*478+11T>C) c.862+11T>C (n.862+11T>C) c.754+11T>C (n.754+11T>C) c.790+11T>C (n.790+11T>C) | ClinVar |
| 14 | g.91887184G>A | CA2575605336 | FBLN5 | c.*705+9C>T (n.*705+9C>T) c.571+9C>T (n.571+9C>T) c.913+9C>T (n.913+9C>T) c.739+9C>T (n.739+9C>T) n.659+9C>T c.*582+9C>T (n.*582+9C>T) c.*478+9C>T (n.*478+9C>T) c.862+9C>T (n.862+9C>T) c.754+9C>T (n.754+9C>T) c.790+9C>T (n.790+9C>T) | |
| 14 | g.91887185C>T | CA2573150284 | FBLN5 | c.*705+8G>A (n.*705+8G>A) c.571+8G>A (n.571+8G>A) c.913+8G>A (n.913+8G>A) c.739+8G>A (n.739+8G>A) n.659+8G>A c.*582+8G>A (n.*582+8G>A) c.*478+8G>A (n.*478+8G>A) c.862+8G>A (n.862+8G>A) c.754+8G>A (n.754+8G>A) c.790+8G>A (n.790+8G>A) | ClinVar dbSNP |
| 14 | g.91887187C= | CA2155153321 | FBLN5 | c.*705+6G= (n.*705+6G=) c.571+6G= (n.571+6G=) c.913+6G= (n.913+6G=) c.739+6G= (n.739+6G=) n.659+6G= c.*582+6G= (n.*582+6G=) c.*478+6G= (n.*478+6G=) c.862+6G= (n.862+6G=) c.754+6G= (n.754+6G=) c.790+6G= (n.790+6G=) | |
| 14 | g.91887187C>G | CA2575605337 | FBLN5 | c.*705+6G>C (n.*705+6G>C) c.571+6G>C (n.571+6G>C) c.913+6G>C (n.913+6G>C) c.739+6G>C (n.739+6G>C) n.659+6G>C c.*582+6G>C (n.*582+6G>C) c.*478+6G>C (n.*478+6G>C) c.862+6G>C (n.862+6G>C) c.754+6G>C (n.754+6G>C) c.790+6G>C (n.790+6G>C) | |
| 14 | g.91887187C>T | CA7312753 | FBLN5 | c.*705+6G>A (n.*705+6G>A) c.571+6G>A (n.571+6G>A) c.913+6G>A (n.913+6G>A) c.739+6G>A (n.739+6G>A) n.659+6G>A c.*582+6G>A (n.*582+6G>A) c.*478+6G>A (n.*478+6G>A) c.862+6G>A (n.862+6G>A) c.754+6G>A (n.754+6G>A) c.790+6G>A (n.790+6G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.91887188A= | CA2155153324 | FBLN5 | c.*705+5T= (n.*705+5T=) c.571+5T= (n.571+5T=) c.913+5T= (n.913+5T=) c.739+5T= (n.739+5T=) n.659+5T= c.*582+5T= (n.*582+5T=) c.*478+5T= (n.*478+5T=) c.862+5T= (n.862+5T=) c.754+5T= (n.754+5T=) c.790+5T= (n.790+5T=) | |
| 14 | g.91887188A>G | CA709922619 | FBLN5 | c.*705+5T>C (n.*705+5T>C) c.571+5T>C (n.571+5T>C) c.913+5T>C (n.913+5T>C) c.739+5T>C (n.739+5T>C) n.659+5T>C c.*582+5T>C (n.*582+5T>C) c.*478+5T>C (n.*478+5T>C) c.862+5T>C (n.862+5T>C) c.754+5T>C (n.754+5T>C) c.790+5T>C (n.790+5T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.91887191A>C | CA390642517 | FBLN5 | c.*705+2T>G (n.*705+2T>G) c.571+2T>G (n.571+2T>G) c.913+2T>G (n.913+2T>G) c.739+2T>G (n.739+2T>G) n.659+2T>G c.*582+2T>G (n.*582+2T>G) c.*478+2T>G (n.*478+2T>G) c.862+2T>G (n.862+2T>G) c.754+2T>G (n.754+2T>G) c.790+2T>G (n.790+2T>G) | |
| 14 | g.91887191A>G | CA390642518 | FBLN5 | c.*705+2T>C (n.*705+2T>C) c.571+2T>C (n.571+2T>C) c.913+2T>C (n.913+2T>C) c.739+2T>C (n.739+2T>C) n.659+2T>C c.*582+2T>C (n.*582+2T>C) c.*478+2T>C (n.*478+2T>C) c.862+2T>C (n.862+2T>C) c.754+2T>C (n.754+2T>C) c.790+2T>C (n.790+2T>C) | |
| 14 | g.91887191A>T | CA390642519 | FBLN5 | c.*705+2T>A (n.*705+2T>A) c.571+2T>A (n.571+2T>A) c.913+2T>A (n.913+2T>A) c.739+2T>A (n.739+2T>A) n.659+2T>A c.*582+2T>A (n.*582+2T>A) c.*478+2T>A (n.*478+2T>A) c.862+2T>A (n.862+2T>A) c.754+2T>A (n.754+2T>A) c.790+2T>A (n.790+2T>A) | |
| 14 | g.91887192C>A | CA390642520 | FBLN5 | c.*705+1G>T (n.*705+1G>T) c.571+1G>T (n.571+1G>T) c.913+1G>T (n.913+1G>T) c.739+1G>T (n.739+1G>T) n.659+1G>T c.*582+1G>T (n.*582+1G>T) c.*478+1G>T (n.*478+1G>T) c.862+1G>T (n.862+1G>T) c.754+1G>T (n.754+1G>T) c.790+1G>T (n.790+1G>T) | |
| 14 | g.91887192C>G | CA390642521 | FBLN5 | c.*705+1G>C (n.*705+1G>C) c.571+1G>C (n.571+1G>C) c.913+1G>C (n.913+1G>C) c.739+1G>C (n.739+1G>C) n.659+1G>C c.*582+1G>C (n.*582+1G>C) c.*478+1G>C (n.*478+1G>C) c.862+1G>C (n.862+1G>C) c.754+1G>C (n.754+1G>C) c.790+1G>C (n.790+1G>C) | |
| 14 | g.91887192C>T | CA390642522 | FBLN5 | c.*705+1G>A (n.*705+1G>A) c.571+1G>A (n.571+1G>A) c.913+1G>A (n.913+1G>A) c.739+1G>A (n.739+1G>A) n.659+1G>A c.*582+1G>A (n.*582+1G>A) c.*478+1G>A (n.*478+1G>A) c.862+1G>A (n.862+1G>A) c.754+1G>A (n.754+1G>A) c.790+1G>A (n.790+1G>A) | |
| 14 | g.91887193C>A | CA390642525 | FBLN5 | c.*705G>T (n.*705G>T) c.571G>T (p.Asp191Tyr) c.913G>T (p.Asp305Tyr) c.739G>T (p.Asp247Tyr) n.659G>T c.*582G>T (n.*582G>T) c.*478G>T (n.*478G>T) c.862G>T (p.Asp288Tyr) c.754G>T (p.Asp252Tyr) c.790G>T (p.Asp264Tyr) | |
| 14 | g.91887193C>G | CA390642524 | FBLN5 | c.*705G>C (n.*705G>C) c.571G>C (p.Asp191His) c.913G>C (p.Asp305His) c.739G>C (p.Asp247His) n.659G>C c.*582G>C (n.*582G>C) c.*478G>C (n.*478G>C) c.862G>C (p.Asp288His) c.754G>C (p.Asp252His) c.790G>C (p.Asp264His) | |
| 14 | g.91887193C>T | CA390642523 | FBLN5 | c.*705G>A (n.*705G>A) c.571G>A (p.Asp191Asn) c.913G>A (p.Asp305Asn) c.739G>A (p.Asp247Asn) n.659G>A c.*582G>A (n.*582G>A) c.*478G>A (n.*478G>A) c.862G>A (p.Asp288Asn) c.754G>A (p.Asp252Asn) c.790G>A (p.Asp264Asn) | gnomAD v4 |
| 14 | g.91887194A>C | CA390642526 | FBLN5 | c.*704T>G (n.*704T>G) c.570T>G (p.Ser190Arg) c.912T>G (p.Ser304Arg) c.738T>G (p.Ser246Arg) n.658T>G c.*581T>G (n.*581T>G) c.*477T>G (n.*477T>G) c.861T>G (p.Ser287Arg) c.753T>G (p.Ser251Arg) c.789T>G (p.Ser263Arg) | gnomAD v4 |
| 14 | g.91887194A>G | CA487567149 | FBLN5 | c.*704T>C (n.*704T>C) c.570T>C (p.Ser190=) c.912T>C (p.Ser304=) c.738T>C (p.Ser246=) n.658T>C c.*581T>C (n.*581T>C) c.*477T>C (n.*477T>C) c.861T>C (p.Ser287=) c.753T>C (p.Ser251=) c.789T>C (p.Ser263=) | |
| 14 | g.91887194A>T | CA390642527 | FBLN5 | c.*704T>A (n.*704T>A) c.570T>A (p.Ser190Arg) c.912T>A (p.Ser304Arg) c.738T>A (p.Ser246Arg) n.658T>A c.*581T>A (n.*581T>A) c.*477T>A (n.*477T>A) c.861T>A (p.Ser287Arg) c.753T>A (p.Ser251Arg) c.789T>A (p.Ser263Arg) | |
| 14 | g.91887195C>A | CA390642528 | FBLN5 | c.*703G>T (n.*703G>T) c.569G>T (p.Ser190Ile) c.911G>T (p.Ser304Ile) c.737G>T (p.Ser246Ile) n.657G>T c.*580G>T (n.*580G>T) c.*476G>T (n.*476G>T) c.860G>T (p.Ser287Ile) c.752G>T (p.Ser251Ile) c.788G>T (p.Ser263Ile) | |
| 14 | g.91887195C>G | CA390642529 | FBLN5 | c.*703G>C (n.*703G>C) c.569G>C (p.Ser190Thr) c.911G>C (p.Ser304Thr) c.737G>C (p.Ser246Thr) n.657G>C c.*580G>C (n.*580G>C) c.*476G>C (n.*476G>C) c.860G>C (p.Ser287Thr) c.752G>C (p.Ser251Thr) c.788G>C (p.Ser263Thr) | |
| 14 | g.91887195C>T | CA390642530 | FBLN5 | c.*703G>A (n.*703G>A) c.569G>A (p.Ser190Asn) c.911G>A (p.Ser304Asn) c.737G>A (p.Ser246Asn) n.657G>A c.*580G>A (n.*580G>A) c.*476G>A (n.*476G>A) c.860G>A (p.Ser287Asn) c.752G>A (p.Ser251Asn) c.788G>A (p.Ser263Asn) | |
| 14 | g.91887196T>A | CA390642533 | FBLN5 | c.*702A>T (n.*702A>T) c.568A>T (p.Ser190Cys) c.910A>T (p.Ser304Cys) c.736A>T (p.Ser246Cys) n.656A>T c.*579A>T (n.*579A>T) c.*475A>T (n.*475A>T) c.859A>T (p.Ser287Cys) c.751A>T (p.Ser251Cys) c.787A>T (p.Ser263Cys) | |
| 14 | g.91887196T>C | CA390642532 | FBLN5 | c.*702A>G (n.*702A>G) c.568A>G (p.Ser190Gly) c.910A>G (p.Ser304Gly) c.736A>G (p.Ser246Gly) n.656A>G c.*579A>G (n.*579A>G) c.*475A>G (n.*475A>G) c.859A>G (p.Ser287Gly) c.751A>G (p.Ser251Gly) c.787A>G (p.Ser263Gly) | ClinVar dbSNP gnomAD v4 |
| 14 | g.91887196T>G | CA390642531 | FBLN5 | c.*702A>C (n.*702A>C) c.568A>C (p.Ser190Arg) c.910A>C (p.Ser304Arg) c.736A>C (p.Ser246Arg) n.656A>C c.*579A>C (n.*579A>C) c.*475A>C (n.*475A>C) c.859A>C (p.Ser287Arg) c.751A>C (p.Ser251Arg) c.787A>C (p.Ser263Arg) | |
| 14 | g.91887196T= | CA2155153329 | FBLN5 | c.*702A= (n.*702A=) c.568A= (p.Ser190=) c.910A= (p.Ser304=) c.736A= (p.Ser246=) n.656A= c.*579A= (n.*579A=) c.*475A= (n.*475A=) c.859A= (p.Ser287=) c.751A= (p.Ser251=) c.787A= (p.Ser263=) | |
| 14 | g.91887197G>A | CA7312754 | FBLN5 | c.*701C>T (n.*701C>T) c.567C>T (p.Cys189=) c.909C>T (p.Cys303=) c.735C>T (p.Cys245=) n.655C>T c.*578C>T (n.*578C>T) c.*474C>T (n.*474C>T) c.858C>T (p.Cys286=) c.750C>T (p.Cys250=) c.786C>T (p.Cys262=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91887197G>C | CA390642534 | FBLN5 | c.*701C>G (n.*701C>G) c.567C>G (p.Cys189Trp) c.909C>G (p.Cys303Trp) c.735C>G (p.Cys245Trp) n.655C>G c.*578C>G (n.*578C>G) c.*474C>G (n.*474C>G) c.858C>G (p.Cys286Trp) c.750C>G (p.Cys250Trp) c.786C>G (p.Cys262Trp) | |
| 14 | g.91887197G= | CA2155153335 | FBLN5 | c.*701C= (n.*701C=) c.567C= (p.Cys189=) c.909C= (p.Cys303=) c.735C= (p.Cys245=) n.655C= c.*578C= (n.*578C=) c.*474C= (n.*474C=) c.858C= (p.Cys286=) c.750C= (p.Cys250=) c.786C= (p.Cys262=) | |
| 14 | g.91887197G>T | CA390642535 | FBLN5 | c.*701C>A (n.*701C>A) c.567C>A (p.Cys189Ter) c.909C>A (p.Cys303Ter) c.735C>A (p.Cys245Ter) n.655C>A c.*578C>A (n.*578C>A) c.*474C>A (n.*474C>A) c.858C>A (p.Cys286Ter) c.750C>A (p.Cys250Ter) c.786C>A (p.Cys262Ter) | |
| 14 | g.91887198C>A | CA390642536 | FBLN5 | c.*700G>T (n.*700G>T) c.566G>T (p.Cys189Phe) c.908G>T (p.Cys303Phe) c.734G>T (p.Cys245Phe) n.654G>T c.*577G>T (n.*577G>T) c.*473G>T (n.*473G>T) c.857G>T (p.Cys286Phe) c.749G>T (p.Cys250Phe) c.785G>T (p.Cys262Phe) | |
| 14 | g.91887198C>G | CA390642537 | FBLN5 | c.*700G>C (n.*700G>C) c.566G>C (p.Cys189Ser) c.908G>C (p.Cys303Ser) c.734G>C (p.Cys245Ser) n.654G>C c.*577G>C (n.*577G>C) c.*473G>C (n.*473G>C) c.857G>C (p.Cys286Ser) c.749G>C (p.Cys250Ser) c.785G>C (p.Cys262Ser) | gnomAD v4 |
| 14 | g.91887198C>T | CA390642538 | FBLN5 | c.*700G>A (n.*700G>A) c.566G>A (p.Cys189Tyr) c.908G>A (p.Cys303Tyr) c.734G>A (p.Cys245Tyr) n.654G>A c.*577G>A (n.*577G>A) c.*473G>A (n.*473G>A) c.857G>A (p.Cys286Tyr) c.749G>A (p.Cys250Tyr) c.785G>A (p.Cys262Tyr) | |
| 14 | g.91887199A>C | CA390642539 | FBLN5 | c.*699T>G (n.*699T>G) c.565T>G (p.Cys189Gly) c.907T>G (p.Cys303Gly) c.733T>G (p.Cys245Gly) n.653T>G c.*576T>G (n.*576T>G) c.*472T>G (n.*472T>G) c.856T>G (p.Cys286Gly) c.748T>G (p.Cys250Gly) c.784T>G (p.Cys262Gly) | |
| 14 | g.91887199A>G | CA390642541 | FBLN5 | c.*699T>C (n.*699T>C) c.565T>C (p.Cys189Arg) c.907T>C (p.Cys303Arg) c.733T>C (p.Cys245Arg) n.653T>C c.*576T>C (n.*576T>C) c.*472T>C (n.*472T>C) c.856T>C (p.Cys286Arg) c.748T>C (p.Cys250Arg) c.784T>C (p.Cys262Arg) | |
| 14 | g.91887199A>T | CA390642540 | FBLN5 | c.*699T>A (n.*699T>A) c.565T>A (p.Cys189Ser) c.907T>A (p.Cys303Ser) c.733T>A (p.Cys245Ser) n.653T>A c.*576T>A (n.*576T>A) c.*472T>A (n.*472T>A) c.856T>A (p.Cys286Ser) c.748T>A (p.Cys250Ser) c.784T>A (p.Cys262Ser) | |
| 14 | g.91887200A= | CA2155153341 | FBLN5 | c.*698T= (n.*698T=) c.564T= (p.His188=) c.906T= (p.His302=) c.732T= (p.His244=) n.652T= c.*575T= (n.*575T=) c.*471T= (n.*471T=) c.855T= (p.His285=) c.747T= (p.His249=) c.783T= (p.His261=) | |
| 14 | g.91887200A>C | CA390642542 | FBLN5 | c.*698T>G (n.*698T>G) c.564T>G (p.His188Gln) c.906T>G (p.His302Gln) c.732T>G (p.His244Gln) n.652T>G c.*575T>G (n.*575T>G) c.*471T>G (n.*471T>G) c.855T>G (p.His285Gln) c.747T>G (p.His249Gln) c.783T>G (p.His261Gln) | |
| 14 | g.91887200A>G | CA487567150 | FBLN5 | c.*698T>C (n.*698T>C) c.564T>C (p.His188=) c.906T>C (p.His302=) c.732T>C (p.His244=) n.652T>C c.*575T>C (n.*575T>C) c.*471T>C (n.*471T>C) c.855T>C (p.His285=) c.747T>C (p.His249=) c.783T>C (p.His261=) | dbSNP |
| 14 | g.91887200A>T | CA390642543 | FBLN5 | c.*698T>A (n.*698T>A) c.564T>A (p.His188Gln) c.906T>A (p.His302Gln) c.732T>A (p.His244Gln) n.652T>A c.*575T>A (n.*575T>A) c.*471T>A (n.*471T>A) c.855T>A (p.His285Gln) c.747T>A (p.His249Gln) c.783T>A (p.His261Gln) | |
| 14 | g.91887201T>A | CA390642544 | FBLN5 | c.*697A>T (n.*697A>T) c.563A>T (p.His188Leu) c.905A>T (p.His302Leu) c.731A>T (p.His244Leu) n.651A>T c.*574A>T (n.*574A>T) c.*470A>T (n.*470A>T) c.854A>T (p.His285Leu) c.746A>T (p.His249Leu) c.782A>T (p.His261Leu) | |
| 14 | g.91887201T>C | CA265597305 | FBLN5 | c.*697A>G (n.*697A>G) c.563A>G (p.His188Arg) c.905A>G (p.His302Arg) c.731A>G (p.His244Arg) n.651A>G c.*574A>G (n.*574A>G) c.*470A>G (n.*470A>G) c.854A>G (p.His285Arg) c.746A>G (p.His249Arg) c.782A>G (p.His261Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.91887201T>G | CA390642545 | FBLN5 | c.*697A>C (n.*697A>C) c.563A>C (p.His188Pro) c.905A>C (p.His302Pro) c.731A>C (p.His244Pro) n.651A>C c.*574A>C (n.*574A>C) c.*470A>C (n.*470A>C) c.854A>C (p.His285Pro) c.746A>C (p.His249Pro) c.782A>C (p.His261Pro) | |
| 14 | g.91887201T= | CA2155153347 | FBLN5 | c.*697A= (n.*697A=) c.563A= (p.His188=) c.905A= (p.His302=) c.731A= (p.His244=) n.651A= c.*574A= (n.*574A=) c.*470A= (n.*470A=) c.854A= (p.His285=) c.746A= (p.His249=) c.782A= (p.His261=) | |
| 14 | g.91887202G>A | CA390642546 | FBLN5 | c.*696C>T (n.*696C>T) c.562C>T (p.His188Tyr) c.904C>T (p.His302Tyr) c.730C>T (p.His244Tyr) n.650C>T c.*573C>T (n.*573C>T) c.*469C>T (n.*469C>T) c.853C>T (p.His285Tyr) c.745C>T (p.His249Tyr) c.781C>T (p.His261Tyr) | COSMIC |
| 14 | g.91887202G>C | CA390642547 | FBLN5 | c.*696C>G (n.*696C>G) c.562C>G (p.His188Asp) c.904C>G (p.His302Asp) c.730C>G (p.His244Asp) n.650C>G c.*573C>G (n.*573C>G) c.*469C>G (n.*469C>G) c.853C>G (p.His285Asp) c.745C>G (p.His249Asp) c.781C>G (p.His261Asp) | |
| 14 | g.91887202G>T | CA390642548 | FBLN5 | c.*696C>A (n.*696C>A) c.562C>A (p.His188Asn) c.904C>A (p.His302Asn) c.730C>A (p.His244Asn) n.650C>A c.*573C>A (n.*573C>A) c.*469C>A (n.*469C>A) c.853C>A (p.His285Asn) c.745C>A (p.His249Asn) c.781C>A (p.His261Asn) | |
| 14 | g.91887203A= | CA2155153353 | FBLN5 | c.*695T= (n.*695T=) c.561T= (p.Val187=) c.903T= (p.Val301=) c.729T= (p.Val243=) n.649T= c.*572T= (n.*572T=) c.*468T= (n.*468T=) c.852T= (p.Val284=) c.744T= (p.Val248=) c.780T= (p.Val260=) | |
| 14 | g.91887203A>C | CA487567151 | FBLN5 | c.*695T>G (n.*695T>G) c.561T>G (p.Val187=) c.903T>G (p.Val301=) c.729T>G (p.Val243=) n.649T>G c.*572T>G (n.*572T>G) c.*468T>G (n.*468T>G) c.852T>G (p.Val284=) c.744T>G (p.Val248=) c.780T>G (p.Val260=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91887203A>G | CA487567152 | FBLN5 | c.*695T>C (n.*695T>C) c.561T>C (p.Val187=) c.903T>C (p.Val301=) c.729T>C (p.Val243=) n.649T>C c.*572T>C (n.*572T>C) c.*468T>C (n.*468T>C) c.852T>C (p.Val284=) c.744T>C (p.Val248=) c.780T>C (p.Val260=) | |
| 14 | g.91887203A>T | CA487567153 | FBLN5 | c.*695T>A (n.*695T>A) c.561T>A (p.Val187=) c.903T>A (p.Val301=) c.729T>A (p.Val243=) n.649T>A c.*572T>A (n.*572T>A) c.*468T>A (n.*468T>A) c.852T>A (p.Val284=) c.744T>A (p.Val248=) c.780T>A (p.Val260=) | |
| 14 | g.91887204A= | CA2155153358 | FBLN5 | c.*694T= (n.*694T=) c.560T= (p.Val187=) c.902T= (p.Val301=) c.728T= (p.Val243=) n.648T= c.*571T= (n.*571T=) c.*467T= (n.*467T=) c.851T= (p.Val284=) c.743T= (p.Val248=) c.779T= (p.Val260=) | |
| 14 | g.91887204A>C | CA390642549 | FBLN5 | c.*694T>G (n.*694T>G) c.560T>G (p.Val187Gly) c.902T>G (p.Val301Gly) c.728T>G (p.Val243Gly) n.648T>G c.*571T>G (n.*571T>G) c.*467T>G (n.*467T>G) c.851T>G (p.Val284Gly) c.743T>G (p.Val248Gly) c.779T>G (p.Val260Gly) | |
| 14 | g.91887204A>G | CA390642550 | FBLN5 | c.*694T>C (n.*694T>C) c.560T>C (p.Val187Ala) c.902T>C (p.Val301Ala) c.728T>C (p.Val243Ala) n.648T>C c.*571T>C (n.*571T>C) c.*467T>C (n.*467T>C) c.851T>C (p.Val284Ala) c.743T>C (p.Val248Ala) c.779T>C (p.Val260Ala) | |
| 14 | g.91887204A>T | CA7312755 | FBLN5 | c.*694T>A (n.*694T>A) c.560T>A (p.Val187Asp) c.902T>A (p.Val301Asp) c.728T>A (p.Val243Asp) n.648T>A c.*571T>A (n.*571T>A) c.*467T>A (n.*467T>A) c.851T>A (p.Val284Asp) c.743T>A (p.Val248Asp) c.779T>A (p.Val260Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.91887205C>A | CA390642552 | FBLN5 | c.*693G>T (n.*693G>T) c.559G>T (p.Val187Phe) c.901G>T (p.Val301Phe) c.727G>T (p.Val243Phe) n.647G>T c.*570G>T (n.*570G>T) c.*466G>T (n.*466G>T) c.850G>T (p.Val284Phe) c.742G>T (p.Val248Phe) c.778G>T (p.Val260Phe) | |
| 14 | g.91887205C= | CA2155153366 | FBLN5 | c.*693G= (n.*693G=) c.559G= (p.Val187=) c.901G= (p.Val301=) c.727G= (p.Val243=) n.647G= c.*570G= (n.*570G=) c.*466G= (n.*466G=) c.850G= (p.Val284=) c.742G= (p.Val248=) c.778G= (p.Val260=) | |
| 14 | g.91887205C>G | CA390642551 | FBLN5 | c.*693G>C (n.*693G>C) c.559G>C (p.Val187Leu) c.901G>C (p.Val301Leu) c.727G>C (p.Val243Leu) n.647G>C c.*570G>C (n.*570G>C) c.*466G>C (n.*466G>C) c.850G>C (p.Val284Leu) c.742G>C (p.Val248Leu) c.778G>C (p.Val260Leu) | |
| 14 | g.91887205C>T | CA265597308 | FBLN5 | c.*693G>A (n.*693G>A) c.559G>A (p.Val187Ile) c.901G>A (p.Val301Ile) c.727G>A (p.Val243Ile) n.647G>A c.*570G>A (n.*570G>A) c.*466G>A (n.*466G>A) c.850G>A (p.Val284Ile) c.742G>A (p.Val248Ile) c.778G>A (p.Val260Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.91887206G>A | CA7312756 | FBLN5 | c.*692C>T (n.*692C>T) c.558C>T (p.Gly186=) c.900C>T (p.Gly300=) c.726C>T (p.Gly242=) n.646C>T c.*569C>T (n.*569C>T) c.*465C>T (n.*465C>T) c.849C>T (p.Gly283=) c.741C>T (p.Gly247=) c.777C>T (p.Gly259=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.91887206G>C | CA487567154 | FBLN5 | c.*692C>G (n.*692C>G) c.558C>G (p.Gly186=) c.900C>G (p.Gly300=) c.726C>G (p.Gly242=) n.646C>G c.*569C>G (n.*569C>G) c.*465C>G (n.*465C>G) c.849C>G (p.Gly283=) c.741C>G (p.Gly247=) c.777C>G (p.Gly259=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.91887206G= | CA2155153380 | FBLN5 | c.*692C= (n.*692C=) c.558C= (p.Gly186=) c.900C= (p.Gly300=) c.726C= (p.Gly242=) n.646C= c.*569C= (n.*569C=) c.*465C= (n.*465C=) c.849C= (p.Gly283=) c.741C= (p.Gly247=) c.777C= (p.Gly259=) | |
| 14 | g.91887206G>T | CA487567155 | FBLN5 | c.*692C>A (n.*692C>A) c.558C>A (p.Gly186=) c.900C>A (p.Gly300=) c.726C>A (p.Gly242=) n.646C>A c.*569C>A (n.*569C>A) c.*465C>A (n.*465C>A) c.849C>A (p.Gly283=) c.741C>A (p.Gly247=) c.777C>A (p.Gly259=) | |
| 14 | g.91887207C>A | CA390642555 | FBLN5 | c.*691G>T (n.*691G>T) c.557G>T (p.Gly186Val) c.899G>T (p.Gly300Val) c.725G>T (p.Gly242Val) n.645G>T c.*568G>T (n.*568G>T) c.*464G>T (n.*464G>T) c.848G>T (p.Gly283Val) c.740G>T (p.Gly247Val) c.776G>T (p.Gly259Val) | |
| 14 | g.91887207C>G | CA390642553 | FBLN5 | c.*691G>C (n.*691G>C) c.557G>C (p.Gly186Ala) c.899G>C (p.Gly300Ala) c.725G>C (p.Gly242Ala) n.645G>C c.*568G>C (n.*568G>C) c.*464G>C (n.*464G>C) c.848G>C (p.Gly283Ala) c.740G>C (p.Gly247Ala) c.776G>C (p.Gly259Ala) | |
| 14 | g.91887207C>T | CA390642554 | FBLN5 | c.*691G>A (n.*691G>A) c.557G>A (p.Gly186Asp) c.899G>A (p.Gly300Asp) c.725G>A (p.Gly242Asp) n.645G>A c.*568G>A (n.*568G>A) c.*464G>A (n.*464G>A) c.848G>A (p.Gly283Asp) c.740G>A (p.Gly247Asp) c.776G>A (p.Gly259Asp) | |
| 14 | g.91887208C>A | CA390642556 | FBLN5 | c.*690G>T (n.*690G>T) c.556G>T (p.Gly186Cys) c.898G>T (p.Gly300Cys) c.724G>T (p.Gly242Cys) n.644G>T c.*567G>T (n.*567G>T) c.*463G>T (n.*463G>T) c.847G>T (p.Gly283Cys) c.739G>T (p.Gly247Cys) c.775G>T (p.Gly259Cys) | |
| 14 | g.91887208C= | CA2155153391 | FBLN5 | c.*690G= (n.*690G=) c.556G= (p.Gly186=) c.898G= (p.Gly300=) c.724G= (p.Gly242=) n.644G= c.*567G= (n.*567G=) c.*463G= (n.*463G=) c.847G= (p.Gly283=) c.739G= (p.Gly247=) c.775G= (p.Gly259=) | |
| 14 | g.91887208C>G | CA390642557 | FBLN5 | c.*690G>C (n.*690G>C) c.556G>C (p.Gly186Arg) c.898G>C (p.Gly300Arg) c.724G>C (p.Gly242Arg) n.644G>C c.*567G>C (n.*567G>C) c.*463G>C (n.*463G>C) c.847G>C (p.Gly283Arg) c.739G>C (p.Gly247Arg) c.775G>C (p.Gly259Arg) | |
| 14 | g.91887208C>T | CA390642558 | FBLN5 | c.*690G>A (n.*690G>A) c.556G>A (p.Gly186Ser) c.898G>A (p.Gly300Ser) c.724G>A (p.Gly242Ser) n.644G>A c.*567G>A (n.*567G>A) c.*463G>A (n.*463G>A) c.847G>A (p.Gly283Ser) c.739G>A (p.Gly247Ser) c.775G>A (p.Gly259Ser) | ClinVar dbSNP |
| 14 | g.91887209A= | CA2155153399 | FBLN5 | c.*689T= (n.*689T=) c.555T= (p.Asp185=) c.897T= (p.Asp299=) c.723T= (p.Asp241=) n.643T= c.*566T= (n.*566T=) c.*462T= (n.*462T=) c.846T= (p.Asp282=) c.738T= (p.Asp246=) c.774T= (p.Asp258=) | |
| 14 | g.91887209A>C | CA390642559 | FBLN5 | c.*689T>G (n.*689T>G) c.555T>G (p.Asp185Glu) c.897T>G (p.Asp299Glu) c.723T>G (p.Asp241Glu) n.643T>G c.*566T>G (n.*566T>G) c.*462T>G (n.*462T>G) c.846T>G (p.Asp282Glu) c.738T>G (p.Asp246Glu) c.774T>G (p.Asp258Glu) | |
| 14 | g.91887209A>G | CA487567156 | FBLN5 | c.*689T>C (n.*689T>C) c.555T>C (p.Asp185=) c.897T>C (p.Asp299=) c.723T>C (p.Asp241=) n.643T>C c.*566T>C (n.*566T>C) c.*462T>C (n.*462T>C) c.846T>C (p.Asp282=) c.738T>C (p.Asp246=) c.774T>C (p.Asp258=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91887209A>T | CA390642560 | FBLN5 | c.*689T>A (n.*689T>A) c.555T>A (p.Asp185Glu) c.897T>A (p.Asp299Glu) c.723T>A (p.Asp241Glu) n.643T>A c.*566T>A (n.*566T>A) c.*462T>A (n.*462T>A) c.846T>A (p.Asp282Glu) c.738T>A (p.Asp246Glu) c.774T>A (p.Asp258Glu) | |
| 14 | g.91887210T>A | CA390642561 | FBLN5 | c.*688A>T (n.*688A>T) c.554A>T (p.Asp185Val) c.896A>T (p.Asp299Val) c.722A>T (p.Asp241Val) n.642A>T c.*565A>T (n.*565A>T) c.*461A>T (n.*461A>T) c.845A>T (p.Asp282Val) c.737A>T (p.Asp246Val) c.773A>T (p.Asp258Val) | |
| 14 | g.91887210T>C | CA265597310 | FBLN5 | c.*688A>G (n.*688A>G) c.554A>G (p.Asp185Gly) c.896A>G (p.Asp299Gly) c.722A>G (p.Asp241Gly) n.642A>G c.*565A>G (n.*565A>G) c.*461A>G (n.*461A>G) c.845A>G (p.Asp282Gly) c.737A>G (p.Asp246Gly) c.773A>G (p.Asp258Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.91887210T>G | CA390642562 | FBLN5 | c.*688A>C (n.*688A>C) c.554A>C (p.Asp185Ala) c.896A>C (p.Asp299Ala) c.722A>C (p.Asp241Ala) n.642A>C c.*565A>C (n.*565A>C) c.*461A>C (n.*461A>C) c.845A>C (p.Asp282Ala) c.737A>C (p.Asp246Ala) c.773A>C (p.Asp258Ala) | |
| 14 | g.91887210T= | CA2155153406 | FBLN5 | c.*688A= (n.*688A=) c.554A= (p.Asp185=) c.896A= (p.Asp299=) c.722A= (p.Asp241=) n.642A= c.*565A= (n.*565A=) c.*461A= (n.*461A=) c.845A= (p.Asp282=) c.737A= (p.Asp246=) c.773A= (p.Asp258=) | |
| 14 | g.91887211C>A | CA390642563 | FBLN5 | c.*687G>T (n.*687G>T) c.553G>T (p.Asp185Tyr) c.895G>T (p.Asp299Tyr) c.721G>T (p.Asp241Tyr) n.641G>T c.*564G>T (n.*564G>T) c.*460G>T (n.*460G>T) c.844G>T (p.Asp282Tyr) c.736G>T (p.Asp246Tyr) c.772G>T (p.Asp258Tyr) | |
| 14 | g.91887211C= | CA2155153416 | FBLN5 | c.*687G= (n.*687G=) c.553G= (p.Asp185=) c.895G= (p.Asp299=) c.721G= (p.Asp241=) n.641G= c.*564G= (n.*564G=) c.*460G= (n.*460G=) c.844G= (p.Asp282=) c.736G= (p.Asp246=) c.772G= (p.Asp258=) | |
| 14 | g.91887211C>G | CA7312757 | FBLN5 | c.*687G>C (n.*687G>C) c.553G>C (p.Asp185His) c.895G>C (p.Asp299His) c.721G>C (p.Asp241His) n.641G>C c.*564G>C (n.*564G>C) c.*460G>C (n.*460G>C) c.844G>C (p.Asp282His) c.736G>C (p.Asp246His) c.772G>C (p.Asp258His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.91887211C>T | CA390642564 | FBLN5 | c.*687G>A (n.*687G>A) c.553G>A (p.Asp185Asn) c.895G>A (p.Asp299Asn) c.721G>A (p.Asp241Asn) n.641G>A c.*564G>A (n.*564G>A) c.*460G>A (n.*460G>A) c.844G>A (p.Asp282Asn) c.736G>A (p.Asp246Asn) c.772G>A (p.Asp258Asn) | COSMIC |
| 14 | g.91887212T>A | CA390642565 | FBLN5 | c.*686A>T (n.*686A>T) c.552A>T (p.Glu184Asp) c.894A>T (p.Glu298Asp) c.720A>T (p.Glu240Asp) n.640A>T c.*563A>T (n.*563A>T) c.*459A>T (n.*459A>T) c.843A>T (p.Glu281Asp) c.735A>T (p.Glu245Asp) c.771A>T (p.Glu257Asp) | |
| 14 | g.91887212T>C | CA487567157 | FBLN5 | c.*686A>G (n.*686A>G) c.552A>G (p.Glu184=) c.894A>G (p.Glu298=) c.720A>G (p.Glu240=) n.640A>G c.*563A>G (n.*563A>G) c.*459A>G (n.*459A>G) c.843A>G (p.Glu281=) c.735A>G (p.Glu245=) c.771A>G (p.Glu257=) | |
| 14 | g.91887212T>G | CA390642566 | FBLN5 | c.*686A>C (n.*686A>C) c.552A>C (p.Glu184Asp) c.894A>C (p.Glu298Asp) c.720A>C (p.Glu240Asp) n.640A>C c.*563A>C (n.*563A>C) c.*459A>C (n.*459A>C) c.843A>C (p.Glu281Asp) c.735A>C (p.Glu245Asp) c.771A>C (p.Glu257Asp) | |
| 14 | g.91887213T>A | CA390642567 | FBLN5 | c.*685A>T (n.*685A>T) c.551A>T (p.Glu184Val) c.893A>T (p.Glu298Val) c.719A>T (p.Glu240Val) n.639A>T c.*562A>T (n.*562A>T) c.*458A>T (n.*458A>T) c.842A>T (p.Glu281Val) c.734A>T (p.Glu245Val) c.770A>T (p.Glu257Val) | |
| 14 | g.91887213T>C | CA390642568 | FBLN5 | c.*685A>G (n.*685A>G) c.551A>G (p.Glu184Gly) c.893A>G (p.Glu298Gly) c.719A>G (p.Glu240Gly) n.639A>G c.*562A>G (n.*562A>G) c.*458A>G (n.*458A>G) c.842A>G (p.Glu281Gly) c.734A>G (p.Glu245Gly) c.770A>G (p.Glu257Gly) | |
| 14 | g.91887213T>G | CA390642569 | FBLN5 | c.*685A>C (n.*685A>C) c.551A>C (p.Glu184Ala) c.893A>C (p.Glu298Ala) c.719A>C (p.Glu240Ala) n.639A>C c.*562A>C (n.*562A>C) c.*458A>C (n.*458A>C) c.842A>C (p.Glu281Ala) c.734A>C (p.Glu245Ala) c.770A>C (p.Glu257Ala) | |
| 14 | g.91887214C>A | CA390642570 | FBLN5 | c.*684G>T (n.*684G>T) c.550G>T (p.Glu184Ter) c.892G>T (p.Glu298Ter) c.718G>T (p.Glu240Ter) n.638G>T c.*561G>T (n.*561G>T) c.*457G>T (n.*457G>T) c.841G>T (p.Glu281Ter) c.733G>T (p.Glu245Ter) c.769G>T (p.Glu257Ter) | |
| 14 | g.91887214C>G | CA390642571 | FBLN5 | c.*684G>C (n.*684G>C) c.550G>C (p.Glu184Gln) c.892G>C (p.Glu298Gln) c.718G>C (p.Glu240Gln) n.638G>C c.*561G>C (n.*561G>C) c.*457G>C (n.*457G>C) c.841G>C (p.Glu281Gln) c.733G>C (p.Glu245Gln) c.769G>C (p.Glu257Gln) | |
| 14 | g.91887214C>T | CA390642572 | FBLN5 | c.*684G>A (n.*684G>A) c.550G>A (p.Glu184Lys) c.892G>A (p.Glu298Lys) c.718G>A (p.Glu240Lys) n.638G>A c.*561G>A (n.*561G>A) c.*457G>A (n.*457G>A) c.841G>A (p.Glu281Lys) c.733G>A (p.Glu245Lys) c.769G>A (p.Glu257Lys) | COSMIC |
| 14 | g.91887215C>A | CA390642573 | FBLN5 | c.*683G>T (n.*683G>T) c.549G>T (p.Glu183Asp) c.891G>T (p.Glu297Asp) c.717G>T (p.Glu239Asp) n.637G>T c.*560G>T (n.*560G>T) c.*456G>T (n.*456G>T) c.840G>T (p.Glu280Asp) c.732G>T (p.Glu244Asp) c.768G>T (p.Glu256Asp) | |
| 14 | g.91887215C>G | CA390642574 | FBLN5 | c.*683G>C (n.*683G>C) c.549G>C (p.Glu183Asp) c.891G>C (p.Glu297Asp) c.717G>C (p.Glu239Asp) n.637G>C c.*560G>C (n.*560G>C) c.*456G>C (n.*456G>C) c.840G>C (p.Glu280Asp) c.732G>C (p.Glu244Asp) c.768G>C (p.Glu256Asp) | |
| 14 | g.91887215C>T | CA487567158 | FBLN5 | c.*683G>A (n.*683G>A) c.549G>A (p.Glu183=) c.891G>A (p.Glu297=) c.717G>A (p.Glu239=) n.637G>A c.*560G>A (n.*560G>A) c.*456G>A (n.*456G>A) c.840G>A (p.Glu280=) c.732G>A (p.Glu244=) c.768G>A (p.Glu256=) | |
| 14 | g.91887216T>A | CA390642575 | FBLN5 | c.*682A>T (n.*682A>T) c.548A>T (p.Glu183Val) c.890A>T (p.Glu297Val) c.716A>T (p.Glu239Val) n.636A>T c.*559A>T (n.*559A>T) c.*455A>T (n.*455A>T) c.839A>T (p.Glu280Val) c.731A>T (p.Glu244Val) c.767A>T (p.Glu256Val) | |
| 14 | g.91887216T>C | CA390642576 | FBLN5 | c.*682A>G (n.*682A>G) c.548A>G (p.Glu183Gly) c.890A>G (p.Glu297Gly) c.716A>G (p.Glu239Gly) n.636A>G c.*559A>G (n.*559A>G) c.*455A>G (n.*455A>G) c.839A>G (p.Glu280Gly) c.731A>G (p.Glu244Gly) c.767A>G (p.Glu256Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91887216T>G | CA390642577 | FBLN5 | c.*682A>C (n.*682A>C) c.548A>C (p.Glu183Ala) c.890A>C (p.Glu297Ala) c.716A>C (p.Glu239Ala) n.636A>C c.*559A>C (n.*559A>C) c.*455A>C (n.*455A>C) c.839A>C (p.Glu280Ala) c.731A>C (p.Glu244Ala) c.767A>C (p.Glu256Ala) | |
| 14 | g.91887216T= | CA2155153423 | FBLN5 | c.*682A= (n.*682A=) c.548A= (p.Glu183=) c.890A= (p.Glu297=) c.716A= (p.Glu239=) n.636A= c.*559A= (n.*559A=) c.*455A= (n.*455A=) c.839A= (p.Glu280=) c.731A= (p.Glu244=) c.767A= (p.Glu256=) | |
| 14 | g.91887217C>A | CA390642579 | FBLN5 | c.*681G>T (n.*681G>T) c.547G>T (p.Glu183Ter) c.889G>T (p.Glu297Ter) c.715G>T (p.Glu239Ter) n.635G>T c.*558G>T (n.*558G>T) c.*454G>T (n.*454G>T) c.838G>T (p.Glu280Ter) c.730G>T (p.Glu244Ter) c.766G>T (p.Glu256Ter) | |
| 14 | g.91887217C>G | CA390642580 | FBLN5 | c.*681G>C (n.*681G>C) c.547G>C (p.Glu183Gln) c.889G>C (p.Glu297Gln) c.715G>C (p.Glu239Gln) n.635G>C c.*558G>C (n.*558G>C) c.*454G>C (n.*454G>C) c.838G>C (p.Glu280Gln) c.730G>C (p.Glu244Gln) c.766G>C (p.Glu256Gln) | |
| 14 | g.91887217C>T | CA390642578 | FBLN5 | c.*681G>A (n.*681G>A) c.547G>A (p.Glu183Lys) c.889G>A (p.Glu297Lys) c.715G>A (p.Glu239Lys) n.635G>A c.*558G>A (n.*558G>A) c.*454G>A (n.*454G>A) c.838G>A (p.Glu280Lys) c.730G>A (p.Glu244Lys) c.766G>A (p.Glu256Lys) | |
| 14 | g.91887218A= | CA2155153428 | FBLN5 | c.*680T= (n.*680T=) c.546T= (p.Leu182=) c.888T= (p.Leu296=) c.714T= (p.Leu238=) n.634T= c.*557T= (n.*557T=) c.*453T= (n.*453T=) c.837T= (p.Leu279=) c.729T= (p.Leu243=) c.765T= (p.Leu255=) | |
| 14 | g.91887218A>C | CA487567159 | FBLN5 | c.*680T>G (n.*680T>G) c.546T>G (p.Leu182=) c.888T>G (p.Leu296=) c.714T>G (p.Leu238=) n.634T>G c.*557T>G (n.*557T>G) c.*453T>G (n.*453T>G) c.837T>G (p.Leu279=) c.729T>G (p.Leu243=) c.765T>G (p.Leu255=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.91887218A>G | CA487567160 | FBLN5 | c.*680T>C (n.*680T>C) c.546T>C (p.Leu182=) c.888T>C (p.Leu296=) c.714T>C (p.Leu238=) n.634T>C c.*557T>C (n.*557T>C) c.*453T>C (n.*453T>C) c.837T>C (p.Leu279=) c.729T>C (p.Leu243=) c.765T>C (p.Leu255=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.91887218A>T | CA7312758 | FBLN5 | c.*680T>A (n.*680T>A) c.546T>A (p.Leu182=) c.888T>A (p.Leu296=) c.714T>A (p.Leu238=) n.634T>A c.*557T>A (n.*557T>A) c.*453T>A (n.*453T>A) c.837T>A (p.Leu279=) c.729T>A (p.Leu243=) c.765T>A (p.Leu255=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91887219A>C | CA390642581 | FBLN5 | c.*679T>G (n.*679T>G) c.545T>G (p.Leu182Arg) c.887T>G (p.Leu296Arg) c.713T>G (p.Leu238Arg) n.633T>G c.*556T>G (n.*556T>G) c.*452T>G (n.*452T>G) c.836T>G (p.Leu279Arg) c.728T>G (p.Leu243Arg) c.764T>G (p.Leu255Arg) | gnomAD v4 |
| 14 | g.91887219A>G | CA390642582 | FBLN5 | c.*679T>C (n.*679T>C) c.545T>C (p.Leu182Pro) c.887T>C (p.Leu296Pro) c.713T>C (p.Leu238Pro) n.633T>C c.*556T>C (n.*556T>C) c.*452T>C (n.*452T>C) c.836T>C (p.Leu279Pro) c.728T>C (p.Leu243Pro) c.764T>C (p.Leu255Pro) | |
| 14 | g.91887219A>T | CA390642583 | FBLN5 | c.*679T>A (n.*679T>A) c.545T>A (p.Leu182His) c.887T>A (p.Leu296His) c.713T>A (p.Leu238His) n.633T>A c.*556T>A (n.*556T>A) c.*452T>A (n.*452T>A) c.836T>A (p.Leu279His) c.728T>A (p.Leu243His) c.764T>A (p.Leu255His) | |
| 14 | g.91887220G>A | CA390642584 | FBLN5 | c.*678C>T (n.*678C>T) c.544C>T (p.Leu182Phe) c.886C>T (p.Leu296Phe) c.712C>T (p.Leu238Phe) n.632C>T c.*555C>T (n.*555C>T) c.*451C>T (n.*451C>T) c.835C>T (p.Leu279Phe) c.727C>T (p.Leu243Phe) c.763C>T (p.Leu255Phe) | |
| 14 | g.91887220G>C | CA390642585 | FBLN5 | c.*678C>G (n.*678C>G) c.544C>G (p.Leu182Val) c.886C>G (p.Leu296Val) c.712C>G (p.Leu238Val) n.632C>G c.*555C>G (n.*555C>G) c.*451C>G (n.*451C>G) c.835C>G (p.Leu279Val) c.727C>G (p.Leu243Val) c.763C>G (p.Leu255Val) | |
| 14 | g.91887220G>T | CA390642586 | FBLN5 | c.*678C>A (n.*678C>A) c.544C>A (p.Leu182Ile) c.886C>A (p.Leu296Ile) c.712C>A (p.Leu238Ile) n.632C>A c.*555C>A (n.*555C>A) c.*451C>A (n.*451C>A) c.835C>A (p.Leu279Ile) c.727C>A (p.Leu243Ile) c.763C>A (p.Leu255Ile) | |
| 14 | g.91887221T>A | CA390642587 | FBLN5 | c.*677A>T (n.*677A>T) c.543A>T (p.Glu181Asp) c.885A>T (p.Glu295Asp) c.711A>T (p.Glu237Asp) n.631A>T c.*554A>T (n.*554A>T) c.*450A>T (n.*450A>T) c.834A>T (p.Glu278Asp) c.726A>T (p.Glu242Asp) c.762A>T (p.Glu254Asp) | |
| 14 | g.91887221T>C | CA487567161 | FBLN5 | c.*677A>G (n.*677A>G) c.543A>G (p.Glu181=) c.885A>G (p.Glu295=) c.711A>G (p.Glu237=) n.631A>G c.*554A>G (n.*554A>G) c.*450A>G (n.*450A>G) c.834A>G (p.Glu278=) c.726A>G (p.Glu242=) c.762A>G (p.Glu254=) | dbSNP |
| 14 | g.91887221T>G | CA390642588 | FBLN5 | c.*677A>C (n.*677A>C) c.543A>C (p.Glu181Asp) c.885A>C (p.Glu295Asp) c.711A>C (p.Glu237Asp) n.631A>C c.*554A>C (n.*554A>C) c.*450A>C (n.*450A>C) c.834A>C (p.Glu278Asp) c.726A>C (p.Glu242Asp) c.762A>C (p.Glu254Asp) | |
| 14 | g.91887221T= | CA2155153443 | FBLN5 | c.*677A= (n.*677A=) c.543A= (p.Glu181=) c.885A= (p.Glu295=) c.711A= (p.Glu237=) n.631A= c.*554A= (n.*554A=) c.*450A= (n.*450A=) c.834A= (p.Glu278=) c.726A= (p.Glu242=) c.762A= (p.Glu254=) | |
| 14 | g.91887222T>A | CA390642589 | FBLN5 | c.*676A>T (n.*676A>T) c.542A>T (p.Glu181Val) c.884A>T (p.Glu295Val) c.710A>T (p.Glu237Val) n.630A>T c.*553A>T (n.*553A>T) c.*449A>T (n.*449A>T) c.833A>T (p.Glu278Val) c.725A>T (p.Glu242Val) c.761A>T (p.Glu254Val) | dbSNP gnomAD v4 |
| 14 | g.91887222T>C | CA390642590 | FBLN5 | c.*676A>G (n.*676A>G) c.542A>G (p.Glu181Gly) c.884A>G (p.Glu295Gly) c.710A>G (p.Glu237Gly) n.630A>G c.*553A>G (n.*553A>G) c.*449A>G (n.*449A>G) c.833A>G (p.Glu278Gly) c.725A>G (p.Glu242Gly) c.761A>G (p.Glu254Gly) | gnomAD v4 |
| 14 | g.91887222T>G | CA390642591 | FBLN5 | c.*676A>C (n.*676A>C) c.542A>C (p.Glu181Ala) c.884A>C (p.Glu295Ala) c.710A>C (p.Glu237Ala) n.630A>C c.*553A>C (n.*553A>C) c.*449A>C (n.*449A>C) c.833A>C (p.Glu278Ala) c.725A>C (p.Glu242Ala) c.761A>C (p.Glu254Ala) | |
| 14 | g.91887222T= | CA2155153451 | FBLN5 | c.*676A= (n.*676A=) c.542A= (p.Glu181=) c.884A= (p.Glu295=) c.710A= (p.Glu237=) n.630A= c.*553A= (n.*553A=) c.*449A= (n.*449A=) c.833A= (p.Glu278=) c.725A= (p.Glu242=) c.761A= (p.Glu254=) | |
| 14 | g.91887223C>A | CA390642593 | FBLN5 | c.*675G>T (n.*675G>T) c.541G>T (p.Glu181Ter) c.883G>T (p.Glu295Ter) c.709G>T (p.Glu237Ter) n.629G>T c.*552G>T (n.*552G>T) c.*448G>T (n.*448G>T) c.832G>T (p.Glu278Ter) c.724G>T (p.Glu242Ter) c.760G>T (p.Glu254Ter) | |
| 14 | g.91887223C>G | CA390642594 | FBLN5 | c.*675G>C (n.*675G>C) c.541G>C (p.Glu181Gln) c.883G>C (p.Glu295Gln) c.709G>C (p.Glu237Gln) n.629G>C c.*552G>C (n.*552G>C) c.*448G>C (n.*448G>C) c.832G>C (p.Glu278Gln) c.724G>C (p.Glu242Gln) c.760G>C (p.Glu254Gln) | |
| 14 | g.91887223C>T | CA390642592 | FBLN5 | c.*675G>A (n.*675G>A) c.541G>A (p.Glu181Lys) c.883G>A (p.Glu295Lys) c.709G>A (p.Glu237Lys) n.629G>A c.*552G>A (n.*552G>A) c.*448G>A (n.*448G>A) c.832G>A (p.Glu278Lys) c.724G>A (p.Glu242Lys) c.760G>A (p.Glu254Lys) | |
| 14 | g.91887224A>C | CA390642595 | FBLN5 | c.*674T>G (n.*674T>G) c.540T>G (p.Tyr180Ter) c.882T>G (p.Tyr294Ter) c.708T>G (p.Tyr236Ter) n.628T>G c.*551T>G (n.*551T>G) c.*447T>G (n.*447T>G) c.831T>G (p.Tyr277Ter) c.723T>G (p.Tyr241Ter) c.759T>G (p.Tyr253Ter) | |
| 14 | g.91887224A>G | CA487567162 | FBLN5 | c.*674T>C (n.*674T>C) c.540T>C (p.Tyr180=) c.882T>C (p.Tyr294=) c.708T>C (p.Tyr236=) n.628T>C c.*551T>C (n.*551T>C) c.*447T>C (n.*447T>C) c.831T>C (p.Tyr277=) c.723T>C (p.Tyr241=) c.759T>C (p.Tyr253=) | |
| 14 | g.91887224A>T | CA390642596 | FBLN5 | c.*674T>A (n.*674T>A) c.540T>A (p.Tyr180Ter) c.882T>A (p.Tyr294Ter) c.708T>A (p.Tyr236Ter) n.628T>A c.*551T>A (n.*551T>A) c.*447T>A (n.*447T>A) c.831T>A (p.Tyr277Ter) c.723T>A (p.Tyr241Ter) c.759T>A (p.Tyr253Ter) | gnomAD v4 |
| 14 | g.91887225T>A | CA390642597 | FBLN5 | c.*673A>T (n.*673A>T) c.539A>T (p.Tyr180Phe) c.881A>T (p.Tyr294Phe) c.707A>T (p.Tyr236Phe) n.627A>T c.*550A>T (n.*550A>T) c.*446A>T (n.*446A>T) c.830A>T (p.Tyr277Phe) c.722A>T (p.Tyr241Phe) c.758A>T (p.Tyr253Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91887225T>C | CA390642598 | FBLN5 | c.*673A>G (n.*673A>G) c.539A>G (p.Tyr180Cys) c.881A>G (p.Tyr294Cys) c.707A>G (p.Tyr236Cys) n.627A>G c.*550A>G (n.*550A>G) c.*446A>G (n.*446A>G) c.830A>G (p.Tyr277Cys) c.722A>G (p.Tyr241Cys) c.758A>G (p.Tyr253Cys) | |
| 14 | g.91887225T>G | CA390642599 | FBLN5 | c.*673A>C (n.*673A>C) c.539A>C (p.Tyr180Ser) c.881A>C (p.Tyr294Ser) c.707A>C (p.Tyr236Ser) n.627A>C c.*550A>C (n.*550A>C) c.*446A>C (n.*446A>C) c.830A>C (p.Tyr277Ser) c.722A>C (p.Tyr241Ser) c.758A>C (p.Tyr253Ser) | |
| 14 | g.91887225T= | CA2155153458 | FBLN5 | c.*673A= (n.*673A=) c.539A= (p.Tyr180=) c.881A= (p.Tyr294=) c.707A= (p.Tyr236=) n.627A= c.*550A= (n.*550A=) c.*446A= (n.*446A=) c.830A= (p.Tyr277=) c.722A= (p.Tyr241=) c.758A= (p.Tyr253=) | |
| 14 | g.91887226A>C | CA390642602 | FBLN5 | c.*672T>G (n.*672T>G) c.538T>G (p.Tyr180Asp) c.880T>G (p.Tyr294Asp) c.706T>G (p.Tyr236Asp) n.626T>G c.*549T>G (n.*549T>G) c.*445T>G (n.*445T>G) c.829T>G (p.Tyr277Asp) c.721T>G (p.Tyr241Asp) c.757T>G (p.Tyr253Asp) | |
| 14 | g.91887226A>G | CA390642601 | FBLN5 | c.*672T>C (n.*672T>C) c.538T>C (p.Tyr180His) c.880T>C (p.Tyr294His) c.706T>C (p.Tyr236His) n.626T>C c.*549T>C (n.*549T>C) c.*445T>C (n.*445T>C) c.829T>C (p.Tyr277His) c.721T>C (p.Tyr241His) c.757T>C (p.Tyr253His) | |
| 14 | g.91887226A>T | CA390642600 | FBLN5 | c.*672T>A (n.*672T>A) c.538T>A (p.Tyr180Asn) c.880T>A (p.Tyr294Asn) c.706T>A (p.Tyr236Asn) n.626T>A c.*549T>A (n.*549T>A) c.*445T>A (n.*445T>A) c.829T>A (p.Tyr277Asn) c.721T>A (p.Tyr241Asn) c.757T>A (p.Tyr253Asn) | |
| 14 | g.91887227T>A | CA487567163 | FBLN5 | c.*671A>T (n.*671A>T) c.537A>T (p.Gly179=) c.879A>T (p.Gly293=) c.705A>T (p.Gly235=) n.625A>T c.*548A>T (n.*548A>T) c.*444A>T (n.*444A>T) c.828A>T (p.Gly276=) c.720A>T (p.Gly240=) c.756A>T (p.Gly252=) | |
| 14 | g.91887227T>C | CA487567165 | FBLN5 | c.*671A>G (n.*671A>G) c.537A>G (p.Gly179=) c.879A>G (p.Gly293=) c.705A>G (p.Gly235=) n.625A>G c.*548A>G (n.*548A>G) c.*444A>G (n.*444A>G) c.828A>G (p.Gly276=) c.720A>G (p.Gly240=) c.756A>G (p.Gly252=) | |
| 14 | g.91887227T>G | CA487567164 | FBLN5 | c.*671A>C (n.*671A>C) c.537A>C (p.Gly179=) c.879A>C (p.Gly293=) c.705A>C (p.Gly235=) n.625A>C c.*548A>C (n.*548A>C) c.*444A>C (n.*444A>C) c.828A>C (p.Gly276=) c.720A>C (p.Gly240=) c.756A>C (p.Gly252=) | |
| 14 | g.91887228C>A | CA390642603 | FBLN5 | c.*670G>T (n.*670G>T) c.536G>T (p.Gly179Val) c.878G>T (p.Gly293Val) c.704G>T (p.Gly235Val) n.624G>T c.*547G>T (n.*547G>T) c.*443G>T (n.*443G>T) c.827G>T (p.Gly276Val) c.719G>T (p.Gly240Val) c.755G>T (p.Gly252Val) | |
| 14 | g.91887228C>G | CA390642604 | FBLN5 | c.*670G>C (n.*670G>C) c.536G>C (p.Gly179Ala) c.878G>C (p.Gly293Ala) c.704G>C (p.Gly235Ala) n.624G>C c.*547G>C (n.*547G>C) c.*443G>C (n.*443G>C) c.827G>C (p.Gly276Ala) c.719G>C (p.Gly240Ala) c.755G>C (p.Gly252Ala) | COSMIC |
| 14 | g.91887228C>T | CA390642605 | FBLN5 | c.*670G>A (n.*670G>A) c.536G>A (p.Gly179Glu) c.878G>A (p.Gly293Glu) c.704G>A (p.Gly235Glu) n.624G>A c.*547G>A (n.*547G>A) c.*443G>A (n.*443G>A) c.827G>A (p.Gly276Glu) c.719G>A (p.Gly240Glu) c.755G>A (p.Gly252Glu) | |
| 14 | g.91887229C>A | CA390642606 | FBLN5 | c.*669G>T (n.*669G>T) c.535G>T (p.Gly179Ter) c.877G>T (p.Gly293Ter) c.703G>T (p.Gly235Ter) n.623G>T c.*546G>T (n.*546G>T) c.*442G>T (n.*442G>T) c.826G>T (p.Gly276Ter) c.718G>T (p.Gly240Ter) c.754G>T (p.Gly252Ter) | |
| 14 | g.91887229C>G | CA390642607 | FBLN5 | c.*669G>C (n.*669G>C) c.535G>C (p.Gly179Arg) c.877G>C (p.Gly293Arg) c.703G>C (p.Gly235Arg) n.623G>C c.*546G>C (n.*546G>C) c.*442G>C (n.*442G>C) c.826G>C (p.Gly276Arg) c.718G>C (p.Gly240Arg) c.754G>C (p.Gly252Arg) | |
| 14 | g.91887229C>T | CA390642608 | FBLN5 | c.*669G>A (n.*669G>A) c.535G>A (p.Gly179Arg) c.877G>A (p.Gly293Arg) c.703G>A (p.Gly235Arg) n.623G>A c.*546G>A (n.*546G>A) c.*442G>A (n.*442G>A) c.826G>A (p.Gly276Arg) c.718G>A (p.Gly240Arg) c.754G>A (p.Gly252Arg) | |
| 14 | g.91887230T>A | CA487567166 | FBLN5 | c.*668A>T (n.*668A>T) c.534A>T (p.Pro178=) c.876A>T (p.Pro292=) c.702A>T (p.Pro234=) n.622A>T c.*545A>T (n.*545A>T) c.*441A>T (n.*441A>T) c.825A>T (p.Pro275=) c.717A>T (p.Pro239=) c.753A>T (p.Pro251=) | |
| 14 | g.91887230T>C | CA487567167 | FBLN5 | c.*668A>G (n.*668A>G) c.534A>G (p.Pro178=) c.876A>G (p.Pro292=) c.702A>G (p.Pro234=) n.622A>G c.*545A>G (n.*545A>G) c.*441A>G (n.*441A>G) c.825A>G (p.Pro275=) c.717A>G (p.Pro239=) c.753A>G (p.Pro251=) | gnomAD v4 |
| 14 | g.91887230T>G | CA487567168 | FBLN5 | c.*668A>C (n.*668A>C) c.534A>C (p.Pro178=) c.876A>C (p.Pro292=) c.702A>C (p.Pro234=) n.622A>C c.*545A>C (n.*545A>C) c.*441A>C (n.*441A>C) c.825A>C (p.Pro275=) c.717A>C (p.Pro239=) c.753A>C (p.Pro251=) | |
| 14 | g.91887231G>A | CA390642609 | FBLN5 | c.*667C>T (n.*667C>T) c.533C>T (p.Pro178Leu) c.875C>T (p.Pro292Leu) c.701C>T (p.Pro234Leu) n.621C>T c.*544C>T (n.*544C>T) c.*440C>T (n.*440C>T) c.824C>T (p.Pro275Leu) c.716C>T (p.Pro239Leu) c.752C>T (p.Pro251Leu) | |
| 14 | g.91887231G>C | CA390642611 | FBLN5 | c.*667C>G (n.*667C>G) c.533C>G (p.Pro178Arg) c.875C>G (p.Pro292Arg) c.701C>G (p.Pro234Arg) n.621C>G c.*544C>G (n.*544C>G) c.*440C>G (n.*440C>G) c.824C>G (p.Pro275Arg) c.716C>G (p.Pro239Arg) c.752C>G (p.Pro251Arg) | |
| 14 | g.91887231G>T | CA390642610 | FBLN5 | c.*667C>A (n.*667C>A) c.533C>A (p.Pro178Gln) c.875C>A (p.Pro292Gln) c.701C>A (p.Pro234Gln) n.621C>A c.*544C>A (n.*544C>A) c.*440C>A (n.*440C>A) c.824C>A (p.Pro275Gln) c.716C>A (p.Pro239Gln) c.752C>A (p.Pro251Gln) | |
| 14 | g.91887232G>A | CA390642612 | FBLN5 | c.*666C>T (n.*666C>T) c.532C>T (p.Pro178Ser) c.874C>T (p.Pro292Ser) c.700C>T (p.Pro234Ser) n.620C>T c.*543C>T (n.*543C>T) c.*439C>T (n.*439C>T) c.823C>T (p.Pro275Ser) c.715C>T (p.Pro239Ser) c.751C>T (p.Pro251Ser) | |
| 14 | g.91887232G>C | CA390642614 | FBLN5 | c.*666C>G (n.*666C>G) c.532C>G (p.Pro178Ala) c.874C>G (p.Pro292Ala) c.700C>G (p.Pro234Ala) n.620C>G c.*543C>G (n.*543C>G) c.*439C>G (n.*439C>G) c.823C>G (p.Pro275Ala) c.715C>G (p.Pro239Ala) c.751C>G (p.Pro251Ala) | |
| 14 | g.91887232G>T | CA390642613 | FBLN5 | c.*666C>A (n.*666C>A) c.532C>A (p.Pro178Thr) c.874C>A (p.Pro292Thr) c.700C>A (p.Pro234Thr) n.620C>A c.*543C>A (n.*543C>A) c.*439C>A (n.*439C>A) c.823C>A (p.Pro275Thr) c.715C>A (p.Pro239Thr) c.751C>A (p.Pro251Thr) | COSMIC |
| 14 | g.91887233G>A | CA487567169 | FBLN5 | c.*665C>T (n.*665C>T) c.531C>T (p.Asp177=) c.873C>T (p.Asp291=) c.699C>T (p.Asp233=) n.619C>T c.*542C>T (n.*542C>T) c.*438C>T (n.*438C>T) c.822C>T (p.Asp274=) c.714C>T (p.Asp238=) c.750C>T (p.Asp250=) | gnomAD v4 |
| 14 | g.91887233G>C | CA390642615 | FBLN5 | c.*665C>G (n.*665C>G) c.531C>G (p.Asp177Glu) c.873C>G (p.Asp291Glu) c.699C>G (p.Asp233Glu) n.619C>G c.*542C>G (n.*542C>G) c.*438C>G (n.*438C>G) c.822C>G (p.Asp274Glu) c.714C>G (p.Asp238Glu) c.750C>G (p.Asp250Glu) | |
| 14 | g.91887233G= | CA2155153467 | FBLN5 | c.*665C= (n.*665C=) c.531C= (p.Asp177=) c.873C= (p.Asp291=) c.699C= (p.Asp233=) n.619C= c.*542C= (n.*542C=) c.*438C= (n.*438C=) c.822C= (p.Asp274=) c.714C= (p.Asp238=) c.750C= (p.Asp250=) | |
| 14 | g.91887233G>T | CA390642616 | FBLN5 | c.*665C>A (n.*665C>A) c.531C>A (p.Asp177Glu) c.873C>A (p.Asp291Glu) c.699C>A (p.Asp233Glu) n.619C>A c.*542C>A (n.*542C>A) c.*438C>A (n.*438C>A) c.822C>A (p.Asp274Glu) c.714C>A (p.Asp238Glu) c.750C>A (p.Asp250Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91887234T>A | CA390642617 | FBLN5 | c.*664A>T (n.*664A>T) c.530A>T (p.Asp177Val) c.872A>T (p.Asp291Val) c.698A>T (p.Asp233Val) n.618A>T c.*541A>T (n.*541A>T) c.*437A>T (n.*437A>T) c.821A>T (p.Asp274Val) c.713A>T (p.Asp238Val) c.749A>T (p.Asp250Val) | |
| 14 | g.91887234T>C | CA390642618 | FBLN5 | c.*664A>G (n.*664A>G) c.530A>G (p.Asp177Gly) c.872A>G (p.Asp291Gly) c.698A>G (p.Asp233Gly) n.618A>G c.*541A>G (n.*541A>G) c.*437A>G (n.*437A>G) c.821A>G (p.Asp274Gly) c.713A>G (p.Asp238Gly) c.749A>G (p.Asp250Gly) | |
| 14 | g.91887234T>G | CA7312759 | FBLN5 | c.*664A>C (n.*664A>C) c.530A>C (p.Asp177Ala) c.872A>C (p.Asp291Ala) c.698A>C (p.Asp233Ala) n.618A>C c.*541A>C (n.*541A>C) c.*437A>C (n.*437A>C) c.821A>C (p.Asp274Ala) c.713A>C (p.Asp238Ala) c.749A>C (p.Asp250Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91887234T= | CA2155153475 | FBLN5 | c.*664A= (n.*664A=) c.530A= (p.Asp177=) c.872A= (p.Asp291=) c.698A= (p.Asp233=) n.618A= c.*541A= (n.*541A=) c.*437A= (n.*437A=) c.821A= (p.Asp274=) c.713A= (p.Asp238=) c.749A= (p.Asp250=) | |
| 14 | g.91887235C>A | CA390642619 | FBLN5 | c.*663G>T (n.*663G>T) c.529G>T (p.Asp177Tyr) c.871G>T (p.Asp291Tyr) c.697G>T (p.Asp233Tyr) n.617G>T c.*540G>T (n.*540G>T) c.*436G>T (n.*436G>T) c.820G>T (p.Asp274Tyr) c.712G>T (p.Asp238Tyr) c.748G>T (p.Asp250Tyr) | gnomAD v4 |
| 14 | g.91887235C= | CA2155153480 | FBLN5 | c.*663G= (n.*663G=) c.529G= (p.Asp177=) c.871G= (p.Asp291=) c.697G= (p.Asp233=) n.617G= c.*540G= (n.*540G=) c.*436G= (n.*436G=) c.820G= (p.Asp274=) c.712G= (p.Asp238=) c.748G= (p.Asp250=) | |
| 14 | g.91887235C>G | CA390642620 | FBLN5 | c.*663G>C (n.*663G>C) c.529G>C (p.Asp177His) c.871G>C (p.Asp291His) c.697G>C (p.Asp233His) n.617G>C c.*540G>C (n.*540G>C) c.*436G>C (n.*436G>C) c.820G>C (p.Asp274His) c.712G>C (p.Asp238His) c.748G>C (p.Asp250His) | |
| 14 | g.91887235C>T | CA390642621 | FBLN5 | c.*663G>A (n.*663G>A) c.529G>A (p.Asp177Asn) c.871G>A (p.Asp291Asn) c.697G>A (p.Asp233Asn) n.617G>A c.*540G>A (n.*540G>A) c.*436G>A (n.*436G>A) c.820G>A (p.Asp274Asn) c.712G>A (p.Asp238Asn) c.748G>A (p.Asp250Asn) | dbSNP gnomAD v4 |
| 14 | g.91887236A>C | CA390642623 | FBLN5 | c.*662T>G (n.*662T>G) c.528T>G (p.Cys176Trp) c.870T>G (p.Cys290Trp) c.696T>G (p.Cys232Trp) n.616T>G c.*539T>G (n.*539T>G) c.*435T>G (n.*435T>G) c.819T>G (p.Cys273Trp) c.711T>G (p.Cys237Trp) c.747T>G (p.Cys249Trp) | |
| 14 | g.91887236A>G | CA487567170 | FBLN5 | c.*662T>C (n.*662T>C) c.528T>C (p.Cys176=) c.870T>C (p.Cys290=) c.696T>C (p.Cys232=) n.616T>C c.*539T>C (n.*539T>C) c.*435T>C (n.*435T>C) c.819T>C (p.Cys273=) c.711T>C (p.Cys237=) c.747T>C (p.Cys249=) | |
| 14 | g.91887236A>T | CA390642622 | FBLN5 | c.*662T>A (n.*662T>A) c.528T>A (p.Cys176Ter) c.870T>A (p.Cys290Ter) c.696T>A (p.Cys232Ter) n.616T>A c.*539T>A (n.*539T>A) c.*435T>A (n.*435T>A) c.819T>A (p.Cys273Ter) c.711T>A (p.Cys237Ter) c.747T>A (p.Cys249Ter) | |
| 14 | g.91887237C>A | CA390642624 | FBLN5 | c.*661G>T (n.*661G>T) c.527G>T (p.Cys176Phe) c.869G>T (p.Cys290Phe) c.695G>T (p.Cys232Phe) n.615G>T c.*538G>T (n.*538G>T) c.*434G>T (n.*434G>T) c.818G>T (p.Cys273Phe) c.710G>T (p.Cys237Phe) c.746G>T (p.Cys249Phe) | |
| 14 | g.91887237C>G | CA390642625 | FBLN5 | c.*661G>C (n.*661G>C) c.527G>C (p.Cys176Ser) c.869G>C (p.Cys290Ser) c.695G>C (p.Cys232Ser) n.615G>C c.*538G>C (n.*538G>C) c.*434G>C (n.*434G>C) c.818G>C (p.Cys273Ser) c.710G>C (p.Cys237Ser) c.746G>C (p.Cys249Ser) | |
| 14 | g.91887237C>T | CA390642626 | FBLN5 | c.*661G>A (n.*661G>A) c.527G>A (p.Cys176Tyr) c.869G>A (p.Cys290Tyr) c.695G>A (p.Cys232Tyr) n.615G>A c.*538G>A (n.*538G>A) c.*434G>A (n.*434G>A) c.818G>A (p.Cys273Tyr) c.710G>A (p.Cys237Tyr) c.746G>A (p.Cys249Tyr) | |
| 14 | g.91887238A>C | CA390642627 | FBLN5 | c.*660T>G (n.*660T>G) c.526T>G (p.Cys176Gly) c.868T>G (p.Cys290Gly) c.694T>G (p.Cys232Gly) n.614T>G c.*537T>G (n.*537T>G) c.*433T>G (n.*433T>G) c.817T>G (p.Cys273Gly) c.709T>G (p.Cys237Gly) c.745T>G (p.Cys249Gly) | |
| 14 | g.91887238A>G | CA390642628 | FBLN5 | c.*660T>C (n.*660T>C) c.526T>C (p.Cys176Arg) c.868T>C (p.Cys290Arg) c.694T>C (p.Cys232Arg) n.614T>C c.*537T>C (n.*537T>C) c.*433T>C (n.*433T>C) c.817T>C (p.Cys273Arg) c.709T>C (p.Cys237Arg) c.745T>C (p.Cys249Arg) | gnomAD v4 |
| 14 | g.91887238A>T | CA390642629 | FBLN5 | c.*660T>A (n.*660T>A) c.526T>A (p.Cys176Ser) c.868T>A (p.Cys290Ser) c.694T>A (p.Cys232Ser) n.614T>A c.*537T>A (n.*537T>A) c.*433T>A (n.*433T>A) c.817T>A (p.Cys273Ser) c.709T>A (p.Cys237Ser) c.745T>A (p.Cys249Ser) | |
| 14 | g.91887239G>A | CA487567171 | FBLN5 | c.*659C>T (n.*659C>T) c.525C>T (p.Arg175=) c.867C>T (p.Arg289=) c.693C>T (p.Arg231=) n.613C>T c.*536C>T (n.*536C>T) c.*432C>T (n.*432C>T) c.816C>T (p.Arg272=) c.708C>T (p.Arg236=) c.744C>T (p.Arg248=) | |
| 14 | g.91887239G>C | CA487567172 | FBLN5 | c.*659C>G (n.*659C>G) c.525C>G (p.Arg175=) c.867C>G (p.Arg289=) c.693C>G (p.Arg231=) n.613C>G c.*536C>G (n.*536C>G) c.*432C>G (n.*432C>G) c.816C>G (p.Arg272=) c.708C>G (p.Arg236=) c.744C>G (p.Arg248=) | |
| 14 | g.91887239G>T | CA487567173 | FBLN5 | c.*659C>A (n.*659C>A) c.525C>A (p.Arg175=) c.867C>A (p.Arg289=) c.693C>A (p.Arg231=) n.613C>A c.*536C>A (n.*536C>A) c.*432C>A (n.*432C>A) c.816C>A (p.Arg272=) c.708C>A (p.Arg236=) c.744C>A (p.Arg248=) | |
| 14 | g.91887240C>A | CA390642630 | FBLN5 | c.*658G>T (n.*658G>T) c.524G>T (p.Arg175Leu) c.866G>T (p.Arg289Leu) c.692G>T (p.Arg231Leu) n.612G>T c.*535G>T (n.*535G>T) c.*431G>T (n.*431G>T) c.815G>T (p.Arg272Leu) c.707G>T (p.Arg236Leu) c.743G>T (p.Arg248Leu) | gnomAD v4 |
| 14 | g.91887240C= | CA2155153486 | FBLN5 | c.*658G= (n.*658G=) c.524G= (p.Arg175=) c.866G= (p.Arg289=) c.692G= (p.Arg231=) n.612G= c.*535G= (n.*535G=) c.*431G= (n.*431G=) c.815G= (p.Arg272=) c.707G= (p.Arg236=) c.743G= (p.Arg248=) | |
| 14 | g.91887240C>G | CA390642631 | FBLN5 | c.*658G>C (n.*658G>C) c.524G>C (p.Arg175Pro) c.866G>C (p.Arg289Pro) c.692G>C (p.Arg231Pro) n.612G>C c.*535G>C (n.*535G>C) c.*431G>C (n.*431G>C) c.815G>C (p.Arg272Pro) c.707G>C (p.Arg236Pro) c.743G>C (p.Arg248Pro) | |
| 14 | g.91887240C>T | CA7312760 | FBLN5 | c.*658G>A (n.*658G>A) c.524G>A (p.Arg175His) c.866G>A (p.Arg289His) c.692G>A (p.Arg231His) n.612G>A c.*535G>A (n.*535G>A) c.*431G>A (n.*431G>A) c.815G>A (p.Arg272His) c.707G>A (p.Arg236His) c.743G>A (p.Arg248His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91887241G>A | CA7312761 | FBLN5 | c.*657C>T (n.*657C>T) c.523C>T (p.Arg175Cys) c.865C>T (p.Arg289Cys) c.691C>T (p.Arg231Cys) n.611C>T c.*534C>T (n.*534C>T) c.*430C>T (n.*430C>T) c.814C>T (p.Arg272Cys) c.706C>T (p.Arg236Cys) c.742C>T (p.Arg248Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91887241G>C | CA390642632 | FBLN5 | c.*657C>G (n.*657C>G) c.523C>G (p.Arg175Gly) c.865C>G (p.Arg289Gly) c.691C>G (p.Arg231Gly) n.611C>G c.*534C>G (n.*534C>G) c.*430C>G (n.*430C>G) c.814C>G (p.Arg272Gly) c.706C>G (p.Arg236Gly) c.742C>G (p.Arg248Gly) | |
| 14 | g.91887241G= | CA2155153494 | FBLN5 | c.*657C= (n.*657C=) c.523C= (p.Arg175=) c.865C= (p.Arg289=) c.691C= (p.Arg231=) n.611C= c.*534C= (n.*534C=) c.*430C= (n.*430C=) c.814C= (p.Arg272=) c.706C= (p.Arg236=) c.742C= (p.Arg248=) | |
| 14 | g.91887241G>T | CA390642633 | FBLN5 | c.*657C>A (n.*657C>A) c.523C>A (p.Arg175Ser) c.865C>A (p.Arg289Ser) c.691C>A (p.Arg231Ser) n.611C>A c.*534C>A (n.*534C>A) c.*430C>A (n.*430C>A) c.814C>A (p.Arg272Ser) c.706C>A (p.Arg236Ser) c.742C>A (p.Arg248Ser) | |
| 14 | g.91887242G>A | CA487567174 | FBLN5 | c.*656C>T (n.*656C>T) c.522C>T (p.Cys174=) c.864C>T (p.Cys288=) c.690C>T (p.Cys230=) n.610C>T c.*533C>T (n.*533C>T) c.*429C>T (n.*429C>T) c.813C>T (p.Cys271=) c.705C>T (p.Cys235=) c.741C>T (p.Cys247=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91887242G>C | CA390642634 | FBLN5 | c.*656C>G (n.*656C>G) c.522C>G (p.Cys174Trp) c.864C>G (p.Cys288Trp) c.690C>G (p.Cys230Trp) n.610C>G c.*533C>G (n.*533C>G) c.*429C>G (n.*429C>G) c.813C>G (p.Cys271Trp) c.705C>G (p.Cys235Trp) c.741C>G (p.Cys247Trp) | |
| 14 | g.91887242G= | CA2155153499 | FBLN5 | c.*656C= (n.*656C=) c.522C= (p.Cys174=) c.864C= (p.Cys288=) c.690C= (p.Cys230=) n.610C= c.*533C= (n.*533C=) c.*429C= (n.*429C=) c.813C= (p.Cys271=) c.705C= (p.Cys235=) c.741C= (p.Cys247=) | |
| 14 | g.91887242G>T | CA390642635 | FBLN5 | c.*656C>A (n.*656C>A) c.522C>A (p.Cys174Ter) c.864C>A (p.Cys288Ter) c.690C>A (p.Cys230Ter) n.610C>A c.*533C>A (n.*533C>A) c.*429C>A (n.*429C>A) c.813C>A (p.Cys271Ter) c.705C>A (p.Cys235Ter) c.741C>A (p.Cys247Ter) | |
| 14 | g.91887243C>A | CA390642636 | FBLN5 | c.*655G>T (n.*655G>T) c.521G>T (p.Cys174Phe) c.863G>T (p.Cys288Phe) c.689G>T (p.Cys230Phe) n.609G>T c.*532G>T (n.*532G>T) c.*428G>T (n.*428G>T) c.812G>T (p.Cys271Phe) c.704G>T (p.Cys235Phe) c.740G>T (p.Cys247Phe) | |
| 14 | g.91887243C>G | CA390642637 | FBLN5 | c.*655G>C (n.*655G>C) c.521G>C (p.Cys174Ser) c.863G>C (p.Cys288Ser) c.689G>C (p.Cys230Ser) n.609G>C c.*532G>C (n.*532G>C) c.*428G>C (n.*428G>C) c.812G>C (p.Cys271Ser) c.704G>C (p.Cys235Ser) c.740G>C (p.Cys247Ser) | |
| 14 | g.91887243C>T | CA390642638 | FBLN5 | c.*655G>A (n.*655G>A) c.521G>A (p.Cys174Tyr) c.863G>A (p.Cys288Tyr) c.689G>A (p.Cys230Tyr) n.609G>A c.*532G>A (n.*532G>A) c.*428G>A (n.*428G>A) c.812G>A (p.Cys271Tyr) c.704G>A (p.Cys235Tyr) c.740G>A (p.Cys247Tyr) | |
| 14 | g.91887244A>C | CA390642639 | FBLN5 | c.*654T>G (n.*654T>G) c.520T>G (p.Cys174Gly) c.862T>G (p.Cys288Gly) c.688T>G (p.Cys230Gly) n.608T>G c.*531T>G (n.*531T>G) c.*427T>G (n.*427T>G) c.811T>G (p.Cys271Gly) c.703T>G (p.Cys235Gly) c.739T>G (p.Cys247Gly) | |
| 14 | g.91887244A>G | CA390642640 | FBLN5 | c.*654T>C (n.*654T>C) c.520T>C (p.Cys174Arg) c.862T>C (p.Cys288Arg) c.688T>C (p.Cys230Arg) n.608T>C c.*531T>C (n.*531T>C) c.*427T>C (n.*427T>C) c.811T>C (p.Cys271Arg) c.703T>C (p.Cys235Arg) c.739T>C (p.Cys247Arg) | |
| 14 | g.91887244A>T | CA390642641 | FBLN5 | c.*654T>A (n.*654T>A) c.520T>A (p.Cys174Ser) c.862T>A (p.Cys288Ser) c.688T>A (p.Cys230Ser) n.608T>A c.*531T>A (n.*531T>A) c.*427T>A (n.*427T>A) c.811T>A (p.Cys271Ser) c.703T>A (p.Cys235Ser) c.739T>A (p.Cys247Ser) | |
| 14 | g.91887245G>A | CA487567175 | FBLN5 | c.*653C>T (n.*653C>T) c.519C>T (p.Ile173=) c.861C>T (p.Ile287=) c.687C>T (p.Ile229=) n.607C>T c.*530C>T (n.*530C>T) c.*426C>T (n.*426C>T) c.810C>T (p.Ile270=) c.702C>T (p.Ile234=) c.738C>T (p.Ile246=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91887245G>C | CA390642642 | FBLN5 | c.*653C>G (n.*653C>G) c.519C>G (p.Ile173Met) c.861C>G (p.Ile287Met) c.687C>G (p.Ile229Met) n.607C>G c.*530C>G (n.*530C>G) c.*426C>G (n.*426C>G) c.810C>G (p.Ile270Met) c.702C>G (p.Ile234Met) c.738C>G (p.Ile246Met) | |
| 14 | g.91887245G= | CA2155153503 | FBLN5 | c.*653C= (n.*653C=) c.519C= (p.Ile173=) c.861C= (p.Ile287=) c.687C= (p.Ile229=) n.607C= c.*530C= (n.*530C=) c.*426C= (n.*426C=) c.810C= (p.Ile270=) c.702C= (p.Ile234=) c.738C= (p.Ile246=) | |
| 14 | g.91887245G>T | CA487567176 | FBLN5 | c.*653C>A (n.*653C>A) c.519C>A (p.Ile173=) c.861C>A (p.Ile287=) c.687C>A (p.Ile229=) n.607C>A c.*530C>A (n.*530C>A) c.*426C>A (n.*426C>A) c.810C>A (p.Ile270=) c.702C>A (p.Ile234=) c.738C>A (p.Ile246=) | |
| 14 | g.91887246A>C | CA390642645 | FBLN5 | c.*652T>G (n.*652T>G) c.518T>G (p.Ile173Ser) c.860T>G (p.Ile287Ser) c.686T>G (p.Ile229Ser) n.606T>G c.*529T>G (n.*529T>G) c.*425T>G (n.*425T>G) c.809T>G (p.Ile270Ser) c.701T>G (p.Ile234Ser) c.737T>G (p.Ile246Ser) | |
| 14 | g.91887246A>G | CA390642643 | FBLN5 | c.*652T>C (n.*652T>C) c.518T>C (p.Ile173Thr) c.860T>C (p.Ile287Thr) c.686T>C (p.Ile229Thr) n.606T>C c.*529T>C (n.*529T>C) c.*425T>C (n.*425T>C) c.809T>C (p.Ile270Thr) c.701T>C (p.Ile234Thr) c.737T>C (p.Ile246Thr) | |
| 14 | g.91887246A>T | CA390642644 | FBLN5 | c.*652T>A (n.*652T>A) c.518T>A (p.Ile173Asn) c.860T>A (p.Ile287Asn) c.686T>A (p.Ile229Asn) n.606T>A c.*529T>A (n.*529T>A) c.*425T>A (n.*425T>A) c.809T>A (p.Ile270Asn) c.701T>A (p.Ile234Asn) c.737T>A (p.Ile246Asn) | |
| 14 | g.91887247T>A | CA390642646 | FBLN5 | c.*651A>T (n.*651A>T) c.517A>T (p.Ile173Phe) c.859A>T (p.Ile287Phe) c.685A>T (p.Ile229Phe) n.605A>T c.*528A>T (n.*528A>T) c.*424A>T (n.*424A>T) c.808A>T (p.Ile270Phe) c.700A>T (p.Ile234Phe) c.736A>T (p.Ile246Phe) | |
| 14 | g.91887247T>C | CA390642647 | FBLN5 | c.*651A>G (n.*651A>G) c.517A>G (p.Ile173Val) c.859A>G (p.Ile287Val) c.685A>G (p.Ile229Val) n.605A>G c.*528A>G (n.*528A>G) c.*424A>G (n.*424A>G) c.808A>G (p.Ile270Val) c.700A>G (p.Ile234Val) c.736A>G (p.Ile246Val) | |
| 14 | g.91887247T>G | CA390642648 | FBLN5 | c.*651A>C (n.*651A>C) c.517A>C (p.Ile173Leu) c.859A>C (p.Ile287Leu) c.685A>C (p.Ile229Leu) n.605A>C c.*528A>C (n.*528A>C) c.*424A>C (n.*424A>C) c.808A>C (p.Ile270Leu) c.700A>C (p.Ile234Leu) c.736A>C (p.Ile246Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.91887247T= | CA2155153507 | FBLN5 | c.*651A= (n.*651A=) c.517A= (p.Ile173=) c.859A= (p.Ile287=) c.685A= (p.Ile229=) n.605A= c.*528A= (n.*528A=) c.*424A= (n.*424A=) c.808A= (p.Ile270=) c.700A= (p.Ile234=) c.736A= (p.Ile246=) | |
| 14 | g.91887248G>A | CA487567177 | FBLN5 | c.*650C>T (n.*650C>T) c.516C>T (p.Phe172=) c.858C>T (p.Phe286=) c.684C>T (p.Phe228=) n.604C>T c.*527C>T (n.*527C>T) c.*423C>T (n.*423C>T) c.807C>T (p.Phe269=) c.699C>T (p.Phe233=) c.735C>T (p.Phe245=) | gnomAD v4 COSMIC |
| 14 | g.91887248G>C | CA390642649 | FBLN5 | c.*650C>G (n.*650C>G) c.516C>G (p.Phe172Leu) c.858C>G (p.Phe286Leu) c.684C>G (p.Phe228Leu) n.604C>G c.*527C>G (n.*527C>G) c.*423C>G (n.*423C>G) c.807C>G (p.Phe269Leu) c.699C>G (p.Phe233Leu) c.735C>G (p.Phe245Leu) | |
| 14 | g.91887248G>T | CA390642650 | FBLN5 | c.*650C>A (n.*650C>A) c.516C>A (p.Phe172Leu) c.858C>A (p.Phe286Leu) c.684C>A (p.Phe228Leu) n.604C>A c.*527C>A (n.*527C>A) c.*423C>A (n.*423C>A) c.807C>A (p.Phe269Leu) c.699C>A (p.Phe233Leu) c.735C>A (p.Phe245Leu) | |
| 14 | g.91887249A>C | CA390642651 | FBLN5 | c.*649T>G (n.*649T>G) c.515T>G (p.Phe172Cys) c.857T>G (p.Phe286Cys) c.683T>G (p.Phe228Cys) n.603T>G c.*526T>G (n.*526T>G) c.*422T>G (n.*422T>G) c.806T>G (p.Phe269Cys) c.698T>G (p.Phe233Cys) c.734T>G (p.Phe245Cys) | |
| 14 | g.91887249A>G | CA390642652 | FBLN5 | c.*649T>C (n.*649T>C) c.515T>C (p.Phe172Ser) c.857T>C (p.Phe286Ser) c.683T>C (p.Phe228Ser) n.603T>C c.*526T>C (n.*526T>C) c.*422T>C (n.*422T>C) c.806T>C (p.Phe269Ser) c.698T>C (p.Phe233Ser) c.734T>C (p.Phe245Ser) | gnomAD v4 |
| 14 | g.91887249A>T | CA390642653 | FBLN5 | c.*649T>A (n.*649T>A) c.515T>A (p.Phe172Tyr) c.857T>A (p.Phe286Tyr) c.683T>A (p.Phe228Tyr) n.603T>A c.*526T>A (n.*526T>A) c.*422T>A (n.*422T>A) c.806T>A (p.Phe269Tyr) c.698T>A (p.Phe233Tyr) c.734T>A (p.Phe245Tyr) | |
| 14 | g.91887250A= | CA2155153511 | FBLN5 | c.*648T= (n.*648T=) c.514T= (p.Phe172=) c.856T= (p.Phe286=) c.682T= (p.Phe228=) n.602T= c.*525T= (n.*525T=) c.*421T= (n.*421T=) c.805T= (p.Phe269=) c.697T= (p.Phe233=) c.733T= (p.Phe245=) | |
| 14 | g.91887250A>C | CA390642654 | FBLN5 | c.*648T>G (n.*648T>G) c.514T>G (p.Phe172Val) c.856T>G (p.Phe286Val) c.682T>G (p.Phe228Val) n.602T>G c.*525T>G (n.*525T>G) c.*421T>G (n.*421T>G) c.805T>G (p.Phe269Val) c.697T>G (p.Phe233Val) c.733T>G (p.Phe245Val) | |
| 14 | g.91887250A>G | CA390642655 | FBLN5 | c.*648T>C (n.*648T>C) c.514T>C (p.Phe172Leu) c.856T>C (p.Phe286Leu) c.682T>C (p.Phe228Leu) n.602T>C c.*525T>C (n.*525T>C) c.*421T>C (n.*421T>C) c.805T>C (p.Phe269Leu) c.697T>C (p.Phe233Leu) c.733T>C (p.Phe245Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91887250A>T | CA390642656 | FBLN5 | c.*648T>A (n.*648T>A) c.514T>A (p.Phe172Ile) c.856T>A (p.Phe286Ile) c.682T>A (p.Phe228Ile) n.602T>A c.*525T>A (n.*525T>A) c.*421T>A (n.*421T>A) c.805T>A (p.Phe269Ile) c.697T>A (p.Phe233Ile) c.733T>A (p.Phe245Ile) | |
| 14 | g.91887251A>C | CA487567178 | FBLN5 | c.*647T>G (n.*647T>G) c.513T>G (p.Ser171=) c.855T>G (p.Ser285=) c.681T>G (p.Ser227=) n.601T>G c.*524T>G (n.*524T>G) c.*420T>G (n.*420T>G) c.804T>G (p.Ser268=) c.696T>G (p.Ser232=) c.732T>G (p.Ser244=) | |
| 14 | g.91887251A>G | CA487567179 | FBLN5 | c.*647T>C (n.*647T>C) c.513T>C (p.Ser171=) c.855T>C (p.Ser285=) c.681T>C (p.Ser227=) n.601T>C c.*524T>C (n.*524T>C) c.*420T>C (n.*420T>C) c.804T>C (p.Ser268=) c.696T>C (p.Ser232=) c.732T>C (p.Ser244=) | |
| 14 | g.91887251A>T | CA487567180 | FBLN5 | c.*647T>A (n.*647T>A) c.513T>A (p.Ser171=) c.855T>A (p.Ser285=) c.681T>A (p.Ser227=) n.601T>A c.*524T>A (n.*524T>A) c.*420T>A (n.*420T>A) c.804T>A (p.Ser268=) c.696T>A (p.Ser232=) c.732T>A (p.Ser244=) | |
| 14 | g.91887252G>A | CA390642659 | FBLN5 | c.*646C>T (n.*646C>T) c.512C>T (p.Ser171Phe) c.854C>T (p.Ser285Phe) c.680C>T (p.Ser227Phe) n.600C>T c.*523C>T (n.*523C>T) c.*419C>T (n.*419C>T) c.803C>T (p.Ser268Phe) c.695C>T (p.Ser232Phe) c.731C>T (p.Ser244Phe) | COSMIC |
| 14 | g.91887252G>C | CA390642657 | FBLN5 | c.*646C>G (n.*646C>G) c.512C>G (p.Ser171Cys) c.854C>G (p.Ser285Cys) c.680C>G (p.Ser227Cys) n.600C>G c.*523C>G (n.*523C>G) c.*419C>G (n.*419C>G) c.803C>G (p.Ser268Cys) c.695C>G (p.Ser232Cys) c.731C>G (p.Ser244Cys) | |
| 14 | g.91887252G>T | CA390642658 | FBLN5 | c.*646C>A (n.*646C>A) c.512C>A (p.Ser171Tyr) c.854C>A (p.Ser285Tyr) c.680C>A (p.Ser227Tyr) n.600C>A c.*523C>A (n.*523C>A) c.*419C>A (n.*419C>A) c.803C>A (p.Ser268Tyr) c.695C>A (p.Ser232Tyr) c.731C>A (p.Ser244Tyr) | |
| 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) | |
| 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 |