| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48437015_48437045delinsAACCATCTGTATTGATGCACTGTCCATGTTT | CA2175502248 | FBN1 | c.6412_6442delinsAAACATGGACAGTGCATCAATACAGATGGTT (p.Lys2138=) n.21_51delinsAAACATGGACAGTGCATCAATACAGATGGTT c.1411_1441delinsAAACATGGACAGTGCATCAATACAGATGGTT (p.Lys471=) c.*2175_*2205delinsAAACATGGACAGTGCATCAATACAGATGGTT (n.*2175_*2205delinsAAACATGGACAGTGCATCAATACAGATGGTT) c.1719_1749delinsAAACATGGACAGTGCATCAATACAGATGGTT | |
| 15 | g.48437018_48437047del | CA891844189 | FBN1 | c.6412_6441del (p.Lys2138_Gly2147del) n.21_50del c.1411_1440del (p.Lys471_Gly480del) c.*2175_*2204del (n.*2175_*2204del) c.1719_1748del | ClinVar dbSNP |
| 15 | g.48437026T>A | CA392336601 | FBN1 | c.6431A>T (p.Asn2144Ile) n.40A>T c.1430A>T (p.Asn477Ile) c.*2194A>T (n.*2194A>T) c.1738A>T | |
| 15 | g.48437026T>C | CA016451 | FBN1 | c.6431A>G (p.Asn2144Ser) n.40A>G c.1430A>G (p.Asn477Ser) c.*2194A>G (n.*2194A>G) c.1738A>G | ClinVar dbSNP |
| 15 | g.48437026T>G | CA392336602 | FBN1 | c.6431A>C (p.Asn2144Thr) n.40A>C c.1430A>C (p.Asn477Thr) c.*2194A>C (n.*2194A>C) c.1738A>C | |
| 15 | g.48437026T= | CA2175502289 | FBN1 | c.6431A= (p.Asn2144=) n.40A= c.1430A= (p.Asn477=) c.*2194A= (n.*2194A=) c.1738A= | |
| 15 | g.48437027del | CA2695220256 | FBN1 | c.6431del (p.Asn2144IlefsTer16) n.40del c.1430del (p.Asn477IlefsTer16) c.*2194del (n.*2194del) c.1738del | |
| 15 | g.48437027T>A | CA392336603 | FBN1 | c.6430A>T (p.Asn2144Tyr) n.39A>T c.1429A>T (p.Asn477Tyr) c.*2193A>T (n.*2193A>T) c.1737A>T | |
| 15 | g.48437027T>C | CA392336604 | FBN1 | c.6430A>G (p.Asn2144Asp) n.39A>G c.1429A>G (p.Asn477Asp) c.*2193A>G (n.*2193A>G) c.1737A>G | |
| 15 | g.48437027T>G | CA10587800 | FBN1 | c.6430A>C (p.Asn2144His) n.39A>C c.1429A>C (p.Asn477His) c.*2193A>C (n.*2193A>C) c.1737A>C | ClinVar dbSNP |
| 15 | g.48437027T= | CA2175502298 | FBN1 | c.6430A= (p.Asn2144=) n.39A= c.1429A= (p.Asn477=) c.*2193A= (n.*2193A=) c.1737A= | |
| 15 | g.48437028G>A | CA490019226 | FBN1 | c.6429C>T (p.Ile2143=) n.38C>T c.1428C>T (p.Ile476=) c.*2192C>T (n.*2192C>T) c.1736C>T | |
| 15 | g.48437028G>C | CA392336605 | FBN1 | c.6429C>G (p.Ile2143Met) n.38C>G c.1428C>G (p.Ile476Met) c.*2192C>G (n.*2192C>G) c.1736C>G | |
| 15 | g.48437028G>T | CA490019227 | FBN1 | c.6429C>A (p.Ile2143=) n.38C>A c.1428C>A (p.Ile476=) c.*2192C>A (n.*2192C>A) c.1736C>A | |
| 15 | g.48437029A>C | CA392336608 | FBN1 | c.6428T>G (p.Ile2143Ser) n.37T>G c.1427T>G (p.Ile476Ser) c.*2191T>G (n.*2191T>G) c.1735T>G | |
| 15 | g.48437029A>G | CA392336606 | FBN1 | c.6428T>C (p.Ile2143Thr) n.37T>C c.1427T>C (p.Ile476Thr) c.*2191T>C (n.*2191T>C) c.1735T>C | |
| 15 | g.48437029A>T | CA392336607 | FBN1 | c.6428T>A (p.Ile2143Asn) n.37T>A c.1427T>A (p.Ile476Asn) c.*2191T>A (n.*2191T>A) c.1735T>A | |
| 15 | g.48437030T>A | CA056776 | FBN1 | c.6427A>T (p.Ile2143Phe) n.36A>T c.1426A>T (p.Ile476Phe) c.*2190A>T (n.*2190A>T) c.1734A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48437030T>C | CA392336609 | FBN1 | c.6427A>G (p.Ile2143Val) n.36A>G c.1426A>G (p.Ile476Val) c.*2190A>G (n.*2190A>G) c.1734A>G | dbSNP |
| 15 | g.48437030T>G | CA392336610 | FBN1 | c.6427A>C (p.Ile2143Leu) n.36A>C c.1426A>C (p.Ile476Leu) c.*2190A>C (n.*2190A>C) c.1734A>C | |
| 15 | g.48437030T= | CA2175502302 | FBN1 | c.6427A= (p.Ile2143=) n.36A= c.1426A= (p.Ile476=) c.*2190A= (n.*2190A=) c.1734A= | |
| 15 | g.48437031G>A | CA490019228 | FBN1 | c.6426C>T (p.Cys2142=) n.35C>T c.1425C>T (p.Cys475=) c.*2189C>T (n.*2189C>T) c.1733C>T | |
| 15 | g.48437031G>C | CA392336611 | FBN1 | c.6426C>G (p.Cys2142Trp) n.35C>G c.1425C>G (p.Cys475Trp) c.*2189C>G (n.*2189C>G) c.1733C>G | |
| 15 | g.48437031G>T | CA392336612 | FBN1 | c.6426C>A (p.Cys2142Ter) n.35C>A c.1425C>A (p.Cys475Ter) c.*2189C>A (n.*2189C>A) c.1733C>A | |
| 15 | g.48437032C>A | CA392336613 | FBN1 | c.6425G>T (p.Cys2142Phe) n.34G>T c.1424G>T (p.Cys475Phe) c.*2188G>T (n.*2188G>T) c.1732G>T | |
| 15 | g.48437032C= | CA2175502326 | FBN1 | c.6425G= (p.Cys2142=) n.34G= c.1424G= (p.Cys475=) c.*2188G= (n.*2188G=) c.1732G= | |
| 15 | g.48437032C>G | CA392336614 | FBN1 | c.6425G>C (p.Cys2142Ser) n.34G>C c.1424G>C (p.Cys475Ser) c.*2188G>C (n.*2188G>C) c.1732G>C | |
| 15 | g.48437032C>T | CA016442 | FBN1 | c.6425G>A (p.Cys2142Tyr) n.34G>A c.1424G>A (p.Cys475Tyr) c.*2188G>A (n.*2188G>A) c.1732G>A | ClinVar dbSNP |
| 15 | g.48437033A= | CA2175502336 | FBN1 | c.6424T= (p.Cys2142=) n.33T= c.1423T= (p.Cys475=) c.*2187T= (n.*2187T=) c.1731T= | |
| 15 | g.48437033A>C | CA392336615 | FBN1 | c.6424T>G (p.Cys2142Gly) n.33T>G c.1423T>G (p.Cys475Gly) c.*2187T>G (n.*2187T>G) c.1731T>G | ClinVar |
| 15 | g.48437033A>G | CA392336616 | FBN1 | c.6424T>C (p.Cys2142Arg) n.33T>C c.1423T>C (p.Cys475Arg) c.*2187T>C (n.*2187T>C) c.1731T>C | ClinVar dbSNP |
| 15 | g.48437033A>T | CA392336617 | FBN1 | c.6424T>A (p.Cys2142Ser) n.33T>A c.1423T>A (p.Cys475Ser) c.*2187T>A (n.*2187T>A) c.1731T>A | ClinVar dbSNP |
| 15 | g.48437034del | CA2573150928 | FBN1 | c.6423del (p.Gln2141HisfsTer19) n.32del c.1422del (p.Gln474HisfsTer19) c.*2186del (n.*2186del) c.1730del | ClinVar dbSNP |
| 15 | g.48437034C>A | CA392336618 | FBN1 | c.6423G>T (p.Gln2141His) n.32G>T c.1422G>T (p.Gln474His) c.*2186G>T (n.*2186G>T) c.1730G>T | |
| 15 | g.48437034C>G | CA392336619 | FBN1 | c.6423G>C (p.Gln2141His) n.32G>C c.1422G>C (p.Gln474His) c.*2186G>C (n.*2186G>C) c.1730G>C | |
| 15 | g.48437034C>T | CA490019229 | FBN1 | c.6423G>A (p.Gln2141=) n.32G>A c.1422G>A (p.Gln474=) c.*2186G>A (n.*2186G>A) c.1730G>A | gnomAD v4 |
| 15 | g.48437035T>A | CA392336620 | FBN1 | c.6422A>T (p.Gln2141Leu) n.31A>T c.1421A>T (p.Gln474Leu) c.*2185A>T (n.*2185A>T) c.1729A>T | ClinVar |
| 15 | g.48437035T>C | CA392336621 | FBN1 | c.6422A>G (p.Gln2141Arg) n.31A>G c.1421A>G (p.Gln474Arg) c.*2185A>G (n.*2185A>G) c.1729A>G | |
| 15 | g.48437035T>G | CA392336622 | FBN1 | c.6422A>C (p.Gln2141Pro) n.31A>C c.1421A>C (p.Gln474Pro) c.*2185A>C (n.*2185A>C) c.1729A>C | |
| 15 | g.48437036G>A | CA269526197 | FBN1 | c.6421C>T (p.Gln2141Ter) n.30C>T c.1420C>T (p.Gln474Ter) c.*2184C>T (n.*2184C>T) c.1728C>T | dbSNP |
| 15 | g.48437036G>C | CA392336623 | FBN1 | c.6421C>G (p.Gln2141Glu) n.30C>G c.1420C>G (p.Gln474Glu) c.*2184C>G (n.*2184C>G) c.1728C>G | |
| 15 | g.48437036G= | CA2175502339 | FBN1 | c.6421C= (p.Gln2141=) n.30C= c.1420C= (p.Gln474=) c.*2184C= (n.*2184C=) c.1728C= | |
| 15 | g.48437036G>T | CA392336624 | FBN1 | c.6421C>A (p.Gln2141Lys) n.30C>A c.1420C>A (p.Gln474Lys) c.*2184C>A (n.*2184C>A) c.1728C>A | |
| 15 | g.48437037T>A | CA490019230 | FBN1 | c.6420A>T (p.Gly2140=) n.29A>T c.1419A>T (p.Gly473=) c.*2183A>T (n.*2183A>T) c.1727A>T | |
| 15 | g.48437037T>C | CA490019231 | FBN1 | c.6420A>G (p.Gly2140=) n.29A>G c.1419A>G (p.Gly473=) c.*2183A>G (n.*2183A>G) c.1727A>G | gnomAD v4 |
| 15 | g.48437037T>G | CA490019232 | FBN1 | c.6420A>C (p.Gly2140=) n.29A>C c.1419A>C (p.Gly473=) c.*2183A>C (n.*2183A>C) c.1727A>C | |
| 15 | g.48437038C>A | CA392336625 | FBN1 | c.6419G>T (p.Gly2140Val) n.28G>T c.1418G>T (p.Gly473Val) c.*2182G>T (n.*2182G>T) c.1726G>T | |
| 15 | g.48437038C= | CA2175502344 | FBN1 | c.6419G= (p.Gly2140=) n.28G= c.1418G= (p.Gly473=) c.*2182G= (n.*2182G=) c.1726G= | |
| 15 | g.48437038C>G | CA392336626 | FBN1 | c.6419G>C (p.Gly2140Ala) n.28G>C c.1418G>C (p.Gly473Ala) c.*2182G>C (n.*2182G>C) c.1726G>C | |
| 15 | g.48437038C>T | CA16619944 | FBN1 | c.6419G>A (p.Gly2140Glu) n.28G>A c.1418G>A (p.Gly473Glu) c.*2182G>A (n.*2182G>A) c.1726G>A | ClinVar dbSNP |