Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.48497271C>A | CA392335584 | FBN1 | c.2288G>T (p.Cys763Phe) n.962G>T c.637-22621G>T (n.637-22621G>T) | COSMIC |
15 | g.48497271C>G | CA392335585 | FBN1 | c.2288G>C (p.Cys763Ser) n.962G>C c.637-22621G>C (n.637-22621G>C) | |
15 | g.48497271C>T | CA392335586 | FBN1 | c.2288G>A (p.Cys763Tyr) n.962G>A c.637-22621G>A (n.637-22621G>A) | |
15 | g.48497272A= | CA2175521322 | FBN1 | c.2287T= (p.Cys763=) n.961T= c.637-22622T= (n.637-22622T=) | |
15 | g.48497272A>C | CA392335588 | FBN1 | c.2287T>G (p.Cys763Gly) n.961T>G c.637-22622T>G (n.637-22622T>G) | ClinVar dbSNP |
15 | g.48497272A>G | CA392335589 | FBN1 | c.2287T>C (p.Cys763Arg) n.961T>C c.637-22622T>C (n.637-22622T>C) | ClinVar dbSNP |
15 | g.48497272A>T | CA392335587 | FBN1 | c.2287T>A (p.Cys763Ser) n.961T>A c.637-22622T>A (n.637-22622T>A) | |
15 | g.48497273G>A | CA490023587 | FBN1 | c.2286C>T (p.Asn762=) n.960C>T c.637-22623C>T (n.637-22623C>T) | |
15 | g.48497273G>C | CA392335590 | FBN1 | c.2286C>G (p.Asn762Lys) n.960C>G c.637-22623C>G (n.637-22623C>G) | ClinVar dbSNP |
15 | g.48497273G= | CA2175521324 | FBN1 | c.2286C= (p.Asn762=) n.960C= c.637-22623C= (n.637-22623C=) | |
15 | g.48497273G>T | CA392335591 | FBN1 | c.2286C>A (p.Asn762Lys) n.960C>A c.637-22623C>A (n.637-22623C>A) | |
15 | g.48497274T>A | CA392335592 | FBN1 | c.2285A>T (p.Asn762Ile) n.959A>T c.637-22624A>T (n.637-22624A>T) | |
15 | g.48497274T>C | CA392335593 | FBN1 | c.2285A>G (p.Asn762Ser) n.959A>G c.637-22624A>G (n.637-22624A>G) | |
15 | g.48497274T>G | CA392335594 | FBN1 | c.2285A>C (p.Asn762Thr) n.959A>C c.637-22624A>C (n.637-22624A>C) | |
15 | g.48497274_48497275insC | CA2695220740 | FBN1 | c.2284_2285insG (p.Asn762ArgfsTer4) n.958_959insG c.637-22625_637-22624insG (n.637-22625_637-22624insG) | |
15 | g.48497275T>A | CA392335597 | FBN1 | c.2284A>T (p.Asn762Tyr) n.958A>T c.637-22625A>T (n.637-22625A>T) | |
15 | g.48497275T>C | CA392335595 | FBN1 | c.2284A>G (p.Asn762Asp) n.958A>G c.637-22625A>G (n.637-22625A>G) | |
15 | g.48497275T>G | CA392335596 | FBN1 | c.2284A>C (p.Asn762His) n.958A>C c.637-22625A>C (n.637-22625A>C) | |
15 | g.48497276T>A | CA392335598 | FBN1 | c.2283A>T (p.Lys761Asn) n.957A>T c.637-22626A>T (n.637-22626A>T) | |
15 | g.48497276T>C | CA490023588 | FBN1 | c.2283A>G (p.Lys761=) n.957A>G c.637-22626A>G (n.637-22626A>G) | ClinVar dbSNP gnomAD v2 |
15 | g.48497276T>G | CA392335599 | FBN1 | c.2283A>C (p.Lys761Asn) n.957A>C c.637-22626A>C (n.637-22626A>C) | |
15 | g.48497276T= | CA2175521326 | FBN1 | c.2283A= (p.Lys761=) n.957A= c.637-22626A= (n.637-22626A=) | |
15 | g.48497277T>A | CA392335600 | FBN1 | c.2282A>T (p.Lys761Ile) n.956A>T c.637-22627A>T (n.637-22627A>T) | |
15 | g.48497277T>C | CA392335601 | FBN1 | c.2282A>G (p.Lys761Arg) n.956A>G c.637-22627A>G (n.637-22627A>G) | |
15 | g.48497277T>G | CA392335602 | FBN1 | c.2282A>C (p.Lys761Thr) n.956A>C c.637-22627A>C (n.637-22627A>C) | |
15 | g.48497278T>A | CA392335603 | FBN1 | c.2281A>T (p.Lys761Ter) n.955A>T c.637-22628A>T (n.637-22628A>T) | |
15 | g.48497278T>C | CA392335605 | FBN1 | c.2281A>G (p.Lys761Glu) n.955A>G c.637-22628A>G (n.637-22628A>G) | |
15 | g.48497278T>G | CA392335604 | FBN1 | c.2281A>C (p.Lys761Gln) n.955A>C c.637-22628A>C (n.637-22628A>C) | |
15 | g.48497279C>A | CA490023589 | FBN1 | c.2280G>T (p.Gly760=) n.954G>T c.637-22629G>T (n.637-22629G>T) | |
15 | g.48497279C= | CA2175521328 | FBN1 | c.2280G= (p.Gly760=) n.954G= c.637-22629G= (n.637-22629G=) | |
15 | g.48497279C>G | CA490023590 | FBN1 | c.2280G>C (p.Gly760=) n.954G>C c.637-22629G>C (n.637-22629G>C) | |
15 | g.48497279C>T | CA490023591 | FBN1 | c.2280G>A (p.Gly760=) n.954G>A c.637-22629G>A (n.637-22629G>A) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.48497281del | CA2695220741 | FBN1 | c.2280del (p.Asn762ThrfsTer10) n.954del c.637-22629del (n.637-22629del) | |
15 | g.48497280C>A | CA392335606 | FBN1 | c.2279G>T (p.Gly760Val) n.953G>T c.637-22630G>T (n.637-22630G>T) | |
15 | g.48497280C>G | CA392335607 | FBN1 | c.2279G>C (p.Gly760Ala) n.953G>C c.637-22630G>C (n.637-22630G>C) | |
15 | g.48497280C>T | CA392335608 | FBN1 | c.2279G>A (p.Gly760Glu) n.953G>A c.637-22630G>A (n.637-22630G>A) | ClinVar dbSNP COSMIC |
15 | g.48497281C>A | CA392335609 | FBN1 | c.2278G>T (p.Gly760Trp) n.952G>T c.637-22631G>T (n.637-22631G>T) | |
15 | g.48497281C>G | CA392335610 | FBN1 | c.2278G>C (p.Gly760Arg) n.952G>C c.637-22631G>C (n.637-22631G>C) | |
15 | g.48497281C>T | CA392335611 | FBN1 | c.2278G>A (p.Gly760Arg) n.952G>A c.637-22631G>A (n.637-22631G>A) | |
15 | g.48497282A= | CA2175521329 | FBN1 | c.2277T= (p.Thr759=) n.951T= c.637-22632T= (n.637-22632T=) | |
15 | g.48497282A>C | CA269539789 | FBN1 | c.2277T>G (p.Thr759=) n.951T>G c.637-22632T>G (n.637-22632T>G) | ClinVar dbSNP gnomAD v4 |
15 | g.48497282A>G | CA490023592 | FBN1 | c.2277T>C (p.Thr759=) n.951T>C c.637-22632T>C (n.637-22632T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.48497282A>T | CA490023593 | FBN1 | c.2277T>A (p.Thr759=) n.951T>A c.637-22632T>A (n.637-22632T>A) | |
15 | g.48497283G>A | CA392335612 | FBN1 | c.2276C>T (p.Thr759Ile) n.950C>T c.637-22633C>T (n.637-22633C>T) | gnomAD v4 |
15 | g.48497283G>C | CA392335613 | FBN1 | c.2276C>G (p.Thr759Ser) n.950C>G c.637-22633C>G (n.637-22633C>G) | |
15 | g.48497283G>T | CA392335614 | FBN1 | c.2276C>A (p.Thr759Asn) n.950C>A c.637-22633C>A (n.637-22633C>A) | |
15 | g.48497284T>A | CA392335615 | FBN1 | c.2275A>T (p.Thr759Ser) n.949A>T c.637-22634A>T (n.637-22634A>T) | |
15 | g.48497284T>C | CA392335616 | FBN1 | c.2275A>G (p.Thr759Ala) n.949A>G c.637-22634A>G (n.637-22634A>G) | ClinVar dbSNP |
15 | g.48497284T>G | CA392335617 | FBN1 | c.2275A>C (p.Thr759Pro) n.949A>C c.637-22634A>C (n.637-22634A>C) | |
15 | g.48497284_48497287dup | CA2695220742 | FBN1 | c.2272_2275dup (p.Thr759IlefsTer8) n.946_949dup c.637-22637_637-22634dup (n.637-22637_637-22634dup) |