Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.48497265C>A | CA392335573 | FBN1 | c.2293+1G>T (n.2293+1G>T) n.967+1G>T c.637-22615G>T (n.637-22615G>T) | |
15 | g.48497265C= | CA2175521310 | FBN1 | c.2293+1G= (n.2293+1G=) n.967+1G= c.637-22615G= (n.637-22615G=) | |
15 | g.48497265C>G | CA392335574 | FBN1 | c.2293+1G>C (n.2293+1G>C) n.967+1G>C c.637-22615G>C (n.637-22615G>C) | ClinVar dbSNP |
15 | g.48497265C>T | CA16614665 | FBN1 | c.2293+1G>A (n.2293+1G>A) n.967+1G>A c.637-22615G>A (n.637-22615G>A) | ClinVar dbSNP |
15 | g.48497266C>A | CA392335577 | FBN1 | c.2293G>T (p.Asp765Tyr) n.967G>T c.637-22616G>T (n.637-22616G>T) | |
15 | g.48497266C= | CA2175521312 | FBN1 | c.2293G= (p.Asp765=) n.967G= c.637-22616G= (n.637-22616G=) | |
15 | g.48497266C>G | CA392335576 | FBN1 | c.2293G>C (p.Asp765His) n.967G>C c.637-22616G>C (n.637-22616G>C) | |
15 | g.48497266C>T | CA392335575 | FBN1 | c.2293G>A (p.Asp765Asn) n.967G>A c.637-22616G>A (n.637-22616G>A) | ClinVar dbSNP |
15 | g.48497267A>C | CA490023586 | FBN1 | c.2292T>G (p.Val764=) n.966T>G c.637-22617T>G (n.637-22617T>G) | |
15 | g.48497267A>G | CA490023584 | FBN1 | c.2292T>C (p.Val764=) n.966T>C c.637-22617T>C (n.637-22617T>C) | |
15 | g.48497267A>T | CA490023585 | FBN1 | c.2292T>A (p.Val764=) n.966T>A c.637-22617T>A (n.637-22617T>A) | |
15 | g.48497268del | CA2573150827 | FBN1 | c.2292del (p.Asp765IlefsTer7) n.966del c.637-22617del (n.637-22617del) | ClinVar dbSNP |
15 | g.48497268A= | CA2175521314 | FBN1 | c.2291T= (p.Val764=) n.965T= c.637-22618T= (n.637-22618T=) | |
15 | g.48497268A>C | CA392335578 | FBN1 | c.2291T>G (p.Val764Gly) n.965T>G c.637-22618T>G (n.637-22618T>G) | |
15 | g.48497268A>G | CA047321 | FBN1 | c.2291T>C (p.Val764Ala) n.965T>C c.637-22618T>C (n.637-22618T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48497268A>T | CA392335579 | FBN1 | c.2291T>A (p.Val764Asp) n.965T>A c.637-22618T>A (n.637-22618T>A) | |
15 | g.48497269C>A | CA392335580 | FBN1 | c.2290G>T (p.Val764Phe) n.964G>T c.637-22619G>T (n.637-22619G>T) | ClinVar gnomAD v4 |
15 | g.48497269C= | CA2175521317 | FBN1 | c.2290G= (p.Val764=) n.964G= c.637-22619G= (n.637-22619G=) | |
15 | g.48497269C>G | CA392335581 | FBN1 | c.2290G>C (p.Val764Leu) n.964G>C c.637-22619G>C (n.637-22619G>C) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.48497269C>T | CA047304 | FBN1 | c.2290G>A (p.Val764Ile) n.964G>A c.637-22619G>A (n.637-22619G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.48497270G>A | CA047257 | FBN1 | c.2289C>T (p.Cys763=) n.963C>T c.637-22620C>T (n.637-22620C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48497270G>C | CA392335582 | FBN1 | c.2289C>G (p.Cys763Trp) n.963C>G c.637-22620C>G (n.637-22620C>G) | ClinVar dbSNP |
15 | g.48497270G= | CA2175521319 | FBN1 | c.2289C= (p.Cys763=) n.963C= c.637-22620C= (n.637-22620C=) | |
15 | g.48497270G>T | CA392335583 | FBN1 | c.2289C>A (p.Cys763Ter) n.963C>A c.637-22620C>A (n.637-22620C>A) | ClinVar |
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) |