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 |
|---|---|---|---|---|---|
| 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.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 |
| 15 | g.48437039C>A | CA392336627 | FBN1 | c.6418G>T (p.Gly2140Ter) n.27G>T c.1417G>T (p.Gly473Ter) c.*2181G>T (n.*2181G>T) c.1725G>T | |
| 15 | g.48437039C= | CA2175502348 | FBN1 | c.6418G= (p.Gly2140=) n.27G= c.1417G= (p.Gly473=) c.*2181G= (n.*2181G=) c.1725G= | |
| 15 | g.48437039C>G | CA392336628 | FBN1 | c.6418G>C (p.Gly2140Arg) n.27G>C c.1417G>C (p.Gly473Arg) c.*2181G>C (n.*2181G>C) c.1725G>C | |
| 15 | g.48437039C>T | CA016435 | FBN1 | c.6418G>A (p.Gly2140Arg) n.27G>A c.1417G>A (p.Gly473Arg) c.*2181G>A (n.*2181G>A) c.1725G>A | ClinVar dbSNP |
| 15 | g.48437040A= | CA2175502364 | FBN1 | c.6417T= (p.His2139=) n.26T= c.1416T= (p.His472=) c.*2180T= (n.*2180T=) c.1724T= | |
| 15 | g.48437040A>C | CA392336630 | FBN1 | c.6417T>G (p.His2139Gln) n.26T>G c.1416T>G (p.His472Gln) c.*2180T>G (n.*2180T>G) c.1724T>G | |
| 15 | g.48437040A>G | CA269526205 | FBN1 | c.6417T>C (p.His2139=) n.26T>C c.1416T>C (p.His472=) c.*2180T>C (n.*2180T>C) c.1724T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48437040A>T | CA392336629 | FBN1 | c.6417T>A (p.His2139Gln) n.26T>A c.1416T>A (p.His472Gln) c.*2180T>A (n.*2180T>A) c.1724T>A | |
| 15 | g.48437041del | CA2580089547 | FBN1 | c.6416del (p.His2139LeufsTer21) n.25del c.1415del (p.His472LeufsTer21) c.*2179del (n.*2179del) c.1723del | ClinVar |
| 15 | g.48437041T>A | CA392336632 | FBN1 | c.6416A>T (p.His2139Leu) n.25A>T c.1415A>T (p.His472Leu) c.*2179A>T (n.*2179A>T) c.1723A>T | |
| 15 | g.48437041T>C | CA016430 | FBN1 | c.6416A>G (p.His2139Arg) n.25A>G c.1415A>G (p.His472Arg) c.*2179A>G (n.*2179A>G) c.1723A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48437041T>G | CA392336631 | FBN1 | c.6416A>C (p.His2139Pro) n.25A>C c.1415A>C (p.His472Pro) c.*2179A>C (n.*2179A>C) c.1723A>C | |
| 15 | g.48437041T= | CA2175502370 | FBN1 | c.6416A= (p.His2139=) n.25A= c.1415A= (p.His472=) c.*2179A= (n.*2179A=) c.1723A= | |
| 15 | g.48437042del | CA2695220259 | FBN1 | c.6415del (p.His2139MetfsTer21) n.24del c.1414del (p.His472MetfsTer21) c.*2178del (n.*2178del) c.1722del | |
| 15 | g.48437042G>A | CA392336633 | FBN1 | c.6415C>T (p.His2139Tyr) n.24C>T c.1414C>T (p.His472Tyr) c.*2178C>T (n.*2178C>T) c.1722C>T | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48437042G>C | CA392336634 | FBN1 | c.6415C>G (p.His2139Asp) n.24C>G c.1414C>G (p.His472Asp) c.*2178C>G (n.*2178C>G) c.1722C>G | |
| 15 | g.48437042G= | CA2175502394 | FBN1 | c.6415C= (p.His2139=) n.24C= c.1414C= (p.His472=) c.*2178C= (n.*2178C=) c.1722C= | |
| 15 | g.48437042G>T | CA392336635 | FBN1 | c.6415C>A (p.His2139Asn) n.24C>A c.1414C>A (p.His472Asn) c.*2178C>A (n.*2178C>A) c.1722C>A | |
| 15 | g.48437042_48437043delinsGT | CA2175502397 | FBN1 | c.6414_6415delinsAC (p.Lys2138=) n.23_24delinsAC c.1413_1414delinsAC (p.Lys471=) c.*2177_*2178delinsAC (n.*2177_*2178delinsAC) c.1721_1722delinsAC | |
| 15 | g.48437043T>A | CA392336636 | FBN1 | c.6414A>T (p.Lys2138Asn) n.23A>T c.1413A>T (p.Lys471Asn) c.*2177A>T (n.*2177A>T) c.1721A>T | |
| 15 | g.48437043T>C | CA490019234 | FBN1 | c.6414A>G (p.Lys2138=) n.23A>G c.1413A>G (p.Lys471=) c.*2177A>G (n.*2177A>G) c.1721A>G | gnomAD v4 |
| 15 | g.48437043T>G | CA392336637 | FBN1 | c.6414A>C (p.Lys2138Asn) n.23A>C c.1413A>C (p.Lys471Asn) c.*2177A>C (n.*2177A>C) c.1721A>C | |
| 15 | g.48437045del | CA658824939 | FBN1 | c.6414del (p.Lys2138AsnfsTer22) n.23del c.1413del (p.Lys471AsnfsTer22) c.*2177del (n.*2177del) c.1721del | ClinVar dbSNP |
| 15 | g.48437044T>A | CA392336638 | FBN1 | c.6413A>T (p.Lys2138Ile) n.22A>T c.1412A>T (p.Lys471Ile) c.*2176A>T (n.*2176A>T) c.1720A>T | |
| 15 | g.48437044T>C | CA392336639 | FBN1 | c.6413A>G (p.Lys2138Arg) n.22A>G c.1412A>G (p.Lys471Arg) c.*2176A>G (n.*2176A>G) c.1720A>G | |
| 15 | g.48437044T>G | CA392336640 | FBN1 | c.6413A>C (p.Lys2138Thr) n.22A>C c.1412A>C (p.Lys471Thr) c.*2176A>C (n.*2176A>C) c.1720A>C | |
| 15 | g.48437045T>A | CA392336641 | FBN1 | c.6412A>T (p.Lys2138Ter) n.21A>T c.1411A>T (p.Lys471Ter) c.*2175A>T (n.*2175A>T) c.1719A>T | |
| 15 | g.48437045T>C | CA392336642 | FBN1 | c.6412A>G (p.Lys2138Glu) n.21A>G c.1411A>G (p.Lys471Glu) c.*2175A>G (n.*2175A>G) c.1719A>G | |
| 15 | g.48437045T>G | CA392336643 | FBN1 | c.6412A>C (p.Lys2138Gln) n.21A>C c.1411A>C (p.Lys471Gln) c.*2175A>C (n.*2175A>C) c.1719A>C | |
| 15 | g.48437046A>C | CA392336645 | FBN1 | c.6411T>G (p.Cys2137Trp) n.20T>G c.1410T>G (p.Cys470Trp) c.*2174T>G (n.*2174T>G) c.1718T>G | |
| 15 | g.48437046A>G | CA490019235 | FBN1 | c.6411T>C (p.Cys2137=) n.20T>C c.1410T>C (p.Cys470=) c.*2174T>C (n.*2174T>C) c.1718T>C | |
| 15 | g.48437046A>T | CA392336644 | FBN1 | c.6411T>A (p.Cys2137Ter) n.20T>A c.1410T>A (p.Cys470Ter) c.*2174T>A (n.*2174T>A) c.1718T>A | |
| 15 | g.48437046_48437048dup | CA2695220261 | FBN1 | c.6409_6411dup (p.Cys2137_Lys2138insCys) n.18_20dup c.1408_1410dup (p.Cys470_Lys471insCys) c.*2172_*2174dup (n.*2172_*2174dup) c.1716_1718dup | |
| 15 | g.48437047C>A | CA392336646 | FBN1 | c.6410G>T (p.Cys2137Phe) n.19G>T c.1409G>T (p.Cys470Phe) c.*2173G>T (n.*2173G>T) c.1717G>T | |
| 15 | g.48437047C= | CA2175502409 | FBN1 | c.6410G= (p.Cys2137=) n.19G= c.1409G= (p.Cys470=) c.*2173G= (n.*2173G=) c.1717G= | |
| 15 | g.48437047C>G | CA392336647 | FBN1 | c.6410G>C (p.Cys2137Ser) n.19G>C c.1409G>C (p.Cys470Ser) c.*2173G>C (n.*2173G>C) c.1717G>C | ClinVar dbSNP |
| 15 | g.48437047C>T | CA392336648 | FBN1 | c.6410G>A (p.Cys2137Tyr) n.19G>A c.1409G>A (p.Cys470Tyr) c.*2173G>A (n.*2173G>A) c.1717G>A | ClinVar dbSNP |
| 15 | g.48437048A>C | CA392336649 | FBN1 | c.6409T>G (p.Cys2137Gly) n.18T>G c.1408T>G (p.Cys470Gly) c.*2172T>G (n.*2172T>G) c.1716T>G | ClinVar dbSNP |
| 15 | g.48437048A>G | CA392336650 | FBN1 | c.6409T>C (p.Cys2137Arg) n.18T>C c.1408T>C (p.Cys470Arg) c.*2172T>C (n.*2172T>C) c.1716T>C | |
| 15 | g.48437048A>T | CA392336651 | FBN1 | c.6409T>A (p.Cys2137Ser) n.18T>A c.1408T>A (p.Cys470Ser) c.*2172T>A (n.*2172T>A) c.1716T>A | |
| 15 | g.48437049G>A | CA490019238 | FBN1 | c.6408C>T (p.Val2136=) n.17C>T c.1407C>T (p.Val469=) c.*2171C>T (n.*2171C>T) c.1715C>T | |
| 15 | g.48437049G>C | CA490019236 | FBN1 | c.6408C>G (p.Val2136=) n.17C>G c.1407C>G (p.Val469=) c.*2171C>G (n.*2171C>G) c.1715C>G | |
| 15 | g.48437049G= | CA2175502415 | FBN1 | c.6408C= (p.Val2136=) n.17C= c.1407C= (p.Val469=) c.*2171C= (n.*2171C=) c.1715C= | |
| 15 | g.48437049G>T | CA490019237 | FBN1 | c.6408C>A (p.Val2136=) n.17C>A c.1407C>A (p.Val469=) c.*2171C>A (n.*2171C>A) c.1715C>A | |
| 15 | g.48437050A>C | CA392336652 | FBN1 | c.6407T>G (p.Val2136Gly) n.16T>G c.1406T>G (p.Val469Gly) c.*2170T>G (n.*2170T>G) c.1714T>G | |
| 15 | g.48437050A>G | CA392336653 | FBN1 | c.6407T>C (p.Val2136Ala) n.16T>C c.1406T>C (p.Val469Ala) c.*2170T>C (n.*2170T>C) c.1714T>C | |
| 15 | g.48437050A>T | CA392336654 | FBN1 | c.6407T>A (p.Val2136Asp) n.16T>A c.1406T>A (p.Val469Asp) c.*2170T>A (n.*2170T>A) c.1714T>A | |
| 15 | g.48437051_48437052dup | CA304353 | FBN1 | c.6406_6407dup (p.Cys2137SerfsTer24) n.15_16dup c.1405_1406dup (p.Cys470SerfsTer24) c.*2169_*2170dup (n.*2169_*2170dup) c.1713_1714dup | ClinVar dbSNP |
| 15 | g.48437051C>A | CA392336655 | FBN1 | c.6406G>T (p.Val2136Phe) n.15G>T c.1405G>T (p.Val469Phe) c.*2169G>T (n.*2169G>T) c.1713G>T | dbSNP |
| 15 | g.48437051C= | CA2175502420 | FBN1 | c.6406G= (p.Val2136=) n.15G= c.1405G= (p.Val469=) c.*2169G= (n.*2169G=) c.1713G= | |
| 15 | g.48437051C>G | CA392336656 | FBN1 | c.6406G>C (p.Val2136Leu) n.15G>C c.1405G>C (p.Val469Leu) c.*2169G>C (n.*2169G>C) c.1713G>C | |
| 15 | g.48437051C>T | CA392336657 | FBN1 | c.6406G>A (p.Val2136Ile) n.15G>A c.1405G>A (p.Val469Ile) c.*2169G>A (n.*2169G>A) c.1713G>A | gnomAD v4 |
| 15 | g.48437052A>C | CA392336658 | FBN1 | c.6405T>G (p.Asp2135Glu) n.14T>G c.1404T>G (p.Asp468Glu) c.*2168T>G (n.*2168T>G) c.1712T>G | |
| 15 | g.48437052A>G | CA490019239 | FBN1 | c.6405T>C (p.Asp2135=) n.14T>C c.1404T>C (p.Asp468=) c.*2168T>C (n.*2168T>C) c.1712T>C | |
| 15 | g.48437052A>T | CA392336659 | FBN1 | c.6405T>A (p.Asp2135Glu) n.14T>A c.1404T>A (p.Asp468Glu) c.*2168T>A (n.*2168T>A) c.1712T>A | |
| 15 | g.48437053T>A | CA392336660 | FBN1 | c.6404A>T (p.Asp2135Val) n.13A>T c.1403A>T (p.Asp468Val) c.*2167A>T (n.*2167A>T) c.1711A>T | ClinVar |
| 15 | g.48437053T>C | CA392336661 | FBN1 | c.6404A>G (p.Asp2135Gly) n.13A>G c.1403A>G (p.Asp468Gly) c.*2167A>G (n.*2167A>G) c.1711A>G | |
| 15 | g.48437053T>G | CA392336662 | FBN1 | c.6404A>C (p.Asp2135Ala) n.13A>C c.1403A>C (p.Asp468Ala) c.*2167A>C (n.*2167A>C) c.1711A>C | |
| 15 | g.48437054C>A | CA392336663 | FBN1 | c.6403G>T (p.Asp2135Tyr) n.12G>T c.1402G>T (p.Asp468Tyr) c.*2166G>T (n.*2166G>T) c.1710G>T | |
| 15 | g.48437054C= | CA2175502426 | FBN1 | c.6403G= (p.Asp2135=) n.12G= c.1402G= (p.Asp468=) c.*2166G= (n.*2166G=) c.1710G= | |
| 15 | g.48437054C>G | CA392336664 | FBN1 | c.6403G>C (p.Asp2135His) n.12G>C c.1402G>C (p.Asp468His) c.*2166G>C (n.*2166G>C) c.1710G>C | ClinVar dbSNP |
| 15 | g.48437054C>T | CA016412 | FBN1 | c.6403G>A (p.Asp2135Asn) n.12G>A c.1402G>A (p.Asp468Asn) c.*2166G>A (n.*2166G>A) c.1710G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48437055G>A | CA056766 | FBN1 | c.6402C>T (p.Pro2134=) n.11C>T c.1401C>T (p.Pro467=) c.*2165C>T (n.*2165C>T) c.1709C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48437055G>C | CA490019240 | FBN1 | c.6402C>G (p.Pro2134=) n.11C>G c.1401C>G (p.Pro467=) c.*2165C>G (n.*2165C>G) c.1709C>G | |
| 15 | g.48437055G= | CA2175502441 | FBN1 | c.6402C= (p.Pro2134=) n.11C= c.1401C= (p.Pro467=) c.*2165C= (n.*2165C=) c.1709C= | |
| 15 | g.48437055G>T | CA490019241 | FBN1 | c.6402C>A (p.Pro2134=) n.11C>A c.1401C>A (p.Pro467=) c.*2165C>A (n.*2165C>A) c.1709C>A | gnomAD v4 |
| 15 | g.48437057dup | CA658798052 | FBN1 | c.6402dup (p.Asp2135ArgfsTer4) n.11dup c.1401dup (p.Asp468ArgfsTer4) c.*2165dup (n.*2165dup) c.1709dup | ClinVar dbSNP |
| 15 | g.48437056G>A | CA392336667 | FBN1 | c.6401C>T (p.Pro2134Leu) n.10C>T c.1400C>T (p.Pro467Leu) c.*2164C>T (n.*2164C>T) c.1708C>T | ClinVar dbSNP gnomAD v4 |
| 15 | g.48437056G>C | CA392336665 | FBN1 | c.6401C>G (p.Pro2134Arg) n.10C>G c.1400C>G (p.Pro467Arg) c.*2164C>G (n.*2164C>G) c.1708C>G | |
| 15 | g.48437056G= | CA2175502447 | FBN1 | c.6401C= (p.Pro2134=) n.10C= c.1400C= (p.Pro467=) c.*2164C= (n.*2164C=) c.1708C= | |
| 15 | g.48437056G>T | CA392336666 | FBN1 | c.6401C>A (p.Pro2134His) n.10C>A c.1400C>A (p.Pro467His) c.*2164C>A (n.*2164C>A) c.1708C>A | |
| 15 | g.48437057G>A | CA392336668 | FBN1 | c.6400C>T (p.Pro2134Ser) n.9C>T c.1399C>T (p.Pro467Ser) c.*2163C>T (n.*2163C>T) c.1707C>T | |
| 15 | g.48437057G>C | CA392336669 | FBN1 | c.6400C>G (p.Pro2134Ala) n.9C>G c.1399C>G (p.Pro467Ala) c.*2163C>G (n.*2163C>G) c.1707C>G | |
| 15 | g.48437057G>T | CA392336670 | FBN1 | c.6400C>A (p.Pro2134Thr) n.9C>A c.1399C>A (p.Pro467Thr) c.*2163C>A (n.*2163C>A) c.1707C>A | |
| 15 | g.48437057_48437060delinsGTTC | CA2175502450 | FBN1 | c.6397_6400delinsGAAC (p.Glu2133=) n.6_9delinsGAAC c.1396_1399delinsGAAC (p.Glu466=) c.*2160_*2163delinsGAAC (n.*2160_*2163delinsGAAC) c.1704_1707delinsGAAC | |
| 15 | g.48437058T>A | CA392336671 | FBN1 | c.6399A>T (p.Glu2133Asp) n.8A>T c.1398A>T (p.Glu466Asp) c.*2162A>T (n.*2162A>T) c.1706A>T | |
| 15 | g.48437058T>C | CA490019242 | FBN1 | c.6399A>G (p.Glu2133=) n.8A>G c.1398A>G (p.Glu466=) c.*2162A>G (n.*2162A>G) c.1706A>G | |
| 15 | g.48437058T>G | CA392336672 | FBN1 | c.6399A>C (p.Glu2133Asp) n.8A>C c.1398A>C (p.Glu466Asp) c.*2162A>C (n.*2162A>C) c.1706A>C | |
| 15 | g.48437060_48437062del | CA16614800 | FBN1 | c.6397_6399del (p.Glu2133del) n.6_8del c.1396_1398del (p.Glu466del) c.*2160_*2162del (n.*2160_*2162del) c.1704_1706del | ClinVar dbSNP |
| 15 | g.48437059T>A | CA392336673 | FBN1 | c.6398A>T (p.Glu2133Val) n.7A>T c.1397A>T (p.Glu466Val) c.*2161A>T (n.*2161A>T) c.1705A>T | |
| 15 | g.48437059T>C | CA392336675 | FBN1 | c.6398A>G (p.Glu2133Gly) n.7A>G c.1397A>G (p.Glu466Gly) c.*2161A>G (n.*2161A>G) c.1705A>G | ClinVar dbSNP gnomAD v4 |
| 15 | g.48437059T>G | CA392336674 | FBN1 | c.6398A>C (p.Glu2133Ala) n.7A>C c.1397A>C (p.Glu466Ala) c.*2161A>C (n.*2161A>C) c.1705A>C | |
| 15 | g.48437060C>A | CA392336676 | FBN1 | c.6397G>T (p.Glu2133Ter) n.6G>T c.1396G>T (p.Glu466Ter) c.*2160G>T (n.*2160G>T) c.1704G>T | COSMIC |
| 15 | g.48437060C>G | CA392336677 | FBN1 | c.6397G>C (p.Glu2133Gln) n.6G>C c.1396G>C (p.Glu466Gln) c.*2160G>C (n.*2160G>C) c.1704G>C | |
| 15 | g.48437060C>T | CA392336678 | FBN1 | c.6397G>A (p.Glu2133Lys) n.6G>A c.1396G>A (p.Glu466Lys) c.*2160G>A (n.*2160G>A) c.1704G>A | |
| 15 | g.48437061T>A | CA392336679 | FBN1 | c.6396A>T (p.Lys2132Asn) n.5A>T c.1395A>T (p.Lys465Asn) c.*2159A>T (n.*2159A>T) c.1703A>T | |
| 15 | g.48437061T>C | CA490019243 | FBN1 | c.6396A>G (p.Lys2132=) n.5A>G c.1395A>G (p.Lys465=) c.*2159A>G (n.*2159A>G) c.1703A>G | |
| 15 | g.48437061T>G | CA392336680 | FBN1 | c.6396A>C (p.Lys2132Asn) n.5A>C c.1395A>C (p.Lys465Asn) c.*2159A>C (n.*2159A>C) c.1703A>C | |
| 15 | g.48437062T>A | CA392336681 | FBN1 | c.6395A>T (p.Lys2132Ile) n.4A>T c.1394A>T (p.Lys465Ile) c.*2158A>T (n.*2158A>T) c.1702A>T | |
| 15 | g.48437062T>C | CA392336682 | FBN1 | c.6395A>G (p.Lys2132Arg) n.4A>G c.1394A>G (p.Lys465Arg) c.*2158A>G (n.*2158A>G) c.1702A>G | |
| 15 | g.48437062T>G | CA392336683 | FBN1 | c.6395A>C (p.Lys2132Thr) n.4A>C c.1394A>C (p.Lys465Thr) c.*2158A>C (n.*2158A>C) c.1702A>C | gnomAD v4 |
| 15 | g.48437063T>A | CA392336684 | FBN1 | c.6394A>T (p.Lys2132Ter) n.3A>T c.1393A>T (p.Lys465Ter) c.*2157A>T (n.*2157A>T) c.1701A>T | |
| 15 | g.48437063T>C | CA392336685 | FBN1 | c.6394A>G (p.Lys2132Glu) n.3A>G c.1393A>G (p.Lys465Glu) c.*2157A>G (n.*2157A>G) c.1701A>G | ClinVar gnomAD v4 |
| 15 | g.48437063T>G | CA392336686 | FBN1 | c.6394A>C (p.Lys2132Gln) n.3A>C c.1393A>C (p.Lys465Gln) c.*2157A>C (n.*2157A>C) c.1701A>C | |
| 15 | g.48437064G>A | CA016403 | FBN1 | c.6393C>T (p.Cys2131=) n.2C>T c.1392C>T (p.Cys464=) c.*2156C>T (n.*2156C>T) c.1700C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48437064G>C | CA392336688 | FBN1 | c.6393C>G (p.Cys2131Trp) n.2C>G c.1392C>G (p.Cys464Trp) c.*2156C>G (n.*2156C>G) c.1700C>G | ClinVar dbSNP |
| 15 | g.48437064G= | CA2175502470 | FBN1 | c.6393C= (p.Cys2131=) n.2C= c.1392C= (p.Cys464=) c.*2156C= (n.*2156C=) c.1700C= | |
| 15 | g.48437064G>T | CA392336687 | FBN1 | c.6393C>A (p.Cys2131Ter) n.2C>A c.1392C>A (p.Cys464Ter) c.*2156C>A (n.*2156C>A) c.1700C>A | COSMIC |
| 15 | g.48437065del | CA2573150930 | FBN1 | c.6392del (p.Cys2131SerfsTer29) n.1del c.1391del (p.Cys464SerfsTer29) c.*2155del (n.*2155del) c.1699del | ClinVar dbSNP |
| 15 | g.48437065C>A | CA392336689 | FBN1 | c.6392G>T (p.Cys2131Phe) n.1G>T c.1391G>T (p.Cys464Phe) c.*2155G>T (n.*2155G>T) c.1699G>T | |
| 15 | g.48437065C>G | CA392336691 | FBN1 | c.6392G>C (p.Cys2131Ser) n.1G>C c.1391G>C (p.Cys464Ser) c.*2155G>C (n.*2155G>C) c.1699G>C | |
| 15 | g.48437065C>T | CA392336690 | FBN1 | c.6392G>A (p.Cys2131Tyr) n.1G>A c.1391G>A (p.Cys464Tyr) c.*2155G>A (n.*2155G>A) c.1699G>A | |
| 15 | g.48437066A= | CA2175502483 | FBN1 | c.6391T= (p.Cys2131=) c.1390T= (p.Cys464=) c.*2154T= (n.*2154T=) c.1698T= | |
| 15 | g.48437066A>C | CA392336692 | FBN1 | c.6391T>G (p.Cys2131Gly) c.1390T>G (p.Cys464Gly) c.*2154T>G (n.*2154T>G) c.1698T>G | |
| 15 | g.48437066A>G | CA392336693 | FBN1 | c.6391T>C (p.Cys2131Arg) c.1390T>C (p.Cys464Arg) c.*2154T>C (n.*2154T>C) c.1698T>C | ClinVar dbSNP |
| 15 | g.48437066A>T | CA392336694 | FBN1 | c.6391T>A (p.Cys2131Ser) c.1390T>A (p.Cys464Ser) c.*2154T>A (n.*2154T>A) c.1698T>A | ClinVar dbSNP |
| 15 | g.48437067T>A | CA392336695 | FBN1 | c.6390A>T (p.Glu2130Asp) c.1389A>T (p.Glu463Asp) c.*2153A>T (n.*2153A>T) c.1697A>T | |
| 15 | g.48437067T>C | CA490019245 | FBN1 | c.6390A>G (p.Glu2130=) c.1389A>G (p.Glu463=) c.*2153A>G (n.*2153A>G) c.1697A>G | |
| 15 | g.48437067T>G | CA392336696 | FBN1 | c.6390A>C (p.Glu2130Asp) c.1389A>C (p.Glu463Asp) c.*2153A>C (n.*2153A>C) c.1697A>C | |
| 15 | g.48437068T>A | CA392336697 | FBN1 | c.6389A>T (p.Glu2130Val) c.1388A>T (p.Glu463Val) c.*2152A>T (n.*2152A>T) c.1696A>T | |
| 15 | g.48437068T>C | CA392336698 | FBN1 | c.6389A>G (p.Glu2130Gly) c.1388A>G (p.Glu463Gly) c.*2152A>G (n.*2152A>G) c.1696A>G | |
| 15 | g.48437068T>G | CA392336699 | FBN1 | c.6389A>C (p.Glu2130Ala) c.1388A>C (p.Glu463Ala) c.*2152A>C (n.*2152A>C) c.1696A>C | ClinVar |
| 15 | g.48437069C>A | CA392336700 | FBN1 | c.6388G>T (p.Glu2130Ter) c.1387G>T (p.Glu463Ter) c.*2151G>T (n.*2151G>T) c.1695G>T | ClinVar dbSNP |
| 15 | g.48437069C= | CA2175502491 | FBN1 | c.6388G= (p.Glu2130=) c.1387G= (p.Glu463=) c.*2151G= (n.*2151G=) c.1695G= | |
| 15 | g.48437069C>G | CA392336701 | FBN1 | c.6388G>C (p.Glu2130Gln) c.1387G>C (p.Glu463Gln) c.*2151G>C (n.*2151G>C) c.1695G>C | |
| 15 | g.48437069C>T | CA016399 | FBN1 | c.6388G>A (p.Glu2130Lys) c.1387G>A (p.Glu463Lys) c.*2151G>A (n.*2151G>A) c.1695G>A | ClinVar dbSNP gnomAD v2 COSMIC |
| 15 | g.48437070G>A | CA056750 | FBN1 | c.6387C>T (p.Asp2129=) c.1386C>T (p.Asp462=) c.*2150C>T (n.*2150C>T) c.1694C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48437070G>C | CA392336703 | FBN1 | c.6387C>G (p.Asp2129Glu) c.1386C>G (p.Asp462Glu) c.*2150C>G (n.*2150C>G) c.1694C>G | |
| 15 | g.48437070G= | CA2175502507 | FBN1 | c.6387C= (p.Asp2129=) c.1386C= (p.Asp462=) c.*2150C= (n.*2150C=) c.1694C= | |
| 15 | g.48437070G>T | CA392336702 | FBN1 | c.6387C>A (p.Asp2129Glu) c.1386C>A (p.Asp462Glu) c.*2150C>A (n.*2150C>A) c.1694C>A | |
| 15 | g.48437071T>A | CA392336704 | FBN1 | c.6386A>T (p.Asp2129Val) c.1385A>T (p.Asp462Val) c.*2149A>T (n.*2149A>T) c.1693A>T | ClinVar dbSNP |
| 15 | g.48437071T>C | CA392336705 | FBN1 | c.6386A>G (p.Asp2129Gly) c.1385A>G (p.Asp462Gly) c.*2149A>G (n.*2149A>G) c.1693A>G | ClinVar dbSNP |
| 15 | g.48437071T>G | CA392336706 | FBN1 | c.6386A>C (p.Asp2129Ala) c.1385A>C (p.Asp462Ala) c.*2149A>C (n.*2149A>C) c.1693A>C | |
| 15 | g.48437071T= | CA2175502516 | FBN1 | c.6386A= (p.Asp2129=) c.1385A= (p.Asp462=) c.*2149A= (n.*2149A=) c.1693A= | |
| 15 | g.48437072C>A | CA016393 | FBN1 | c.6385G>T (p.Asp2129Tyr) c.1384G>T (p.Asp462Tyr) c.*2148G>T (n.*2148G>T) c.1692G>T | ClinVar dbSNP |
| 15 | g.48437072C= | CA2175502527 | FBN1 | c.6385G= (p.Asp2129=) c.1384G= (p.Asp462=) c.*2148G= (n.*2148G=) c.1692G= | |
| 15 | g.48437072C>G | CA392336707 | FBN1 | c.6385G>C (p.Asp2129His) c.1384G>C (p.Asp462His) c.*2148G>C (n.*2148G>C) c.1692G>C | |
| 15 | g.48437072C>T | CA392336708 | FBN1 | c.6385G>A (p.Asp2129Asn) c.1384G>A (p.Asp462Asn) c.*2148G>A (n.*2148G>A) c.1692G>A | |
| 15 | g.48437073C>A | CA392336709 | FBN1 | c.6384G>T (p.Met2128Ile) c.1383G>T (p.Met461Ile) c.*2147G>T (n.*2147G>T) c.1691G>T | |
| 15 | g.48437073C>G | CA392336710 | FBN1 | c.6384G>C (p.Met2128Ile) c.1383G>C (p.Met461Ile) c.*2147G>C (n.*2147G>C) c.1691G>C | |
| 15 | g.48437073C>T | CA392336711 | FBN1 | c.6384G>A (p.Met2128Ile) c.1383G>A (p.Met461Ile) c.*2147G>A (n.*2147G>A) c.1691G>A | |
| 15 | g.48437074A>C | CA392336712 | FBN1 | c.6383T>G (p.Met2128Arg) c.1382T>G (p.Met461Arg) c.*2146T>G (n.*2146T>G) c.1690T>G | |
| 15 | g.48437074A>G | CA392336713 | FBN1 | c.6383T>C (p.Met2128Thr) c.1382T>C (p.Met461Thr) c.*2146T>C (n.*2146T>C) c.1690T>C | ClinVar dbSNP |
| 15 | g.48437074A>T | CA392336714 | FBN1 | c.6383T>A (p.Met2128Lys) c.1382T>A (p.Met461Lys) c.*2146T>A (n.*2146T>A) c.1690T>A | |
| 15 | g.48437075T>A | CA392336717 | FBN1 | c.6382A>T (p.Met2128Leu) c.1381A>T (p.Met461Leu) c.*2145A>T (n.*2145A>T) c.1689A>T | |
| 15 | g.48437075T>C | CA392336716 | FBN1 | c.6382A>G (p.Met2128Val) c.1381A>G (p.Met461Val) c.*2145A>G (n.*2145A>G) c.1689A>G | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48437075T>G | CA392336715 | FBN1 | c.6382A>C (p.Met2128Leu) c.1381A>C (p.Met461Leu) c.*2145A>C (n.*2145A>C) c.1689A>C | |
| 15 | g.48437075T= | CA2175502535 | FBN1 | c.6382A= (p.Met2128=) c.1381A= (p.Met461=) c.*2145A= (n.*2145A=) c.1689A= | |
| 15 | g.48437076A>C | CA392336718 | FBN1 | c.6381T>G (p.Asp2127Glu) c.1380T>G (p.Asp460Glu) c.*2144T>G (n.*2144T>G) c.1688T>G | |
| 15 | g.48437076A>G | CA490019246 | FBN1 | c.6381T>C (p.Asp2127=) c.1380T>C (p.Asp460=) c.*2144T>C (n.*2144T>C) c.1688T>C | |
| 15 | g.48437076A>T | CA392336719 | FBN1 | c.6381T>A (p.Asp2127Glu) c.1380T>A (p.Asp460Glu) c.*2144T>A (n.*2144T>A) c.1688T>A | |
| 15 | g.48437077T>A | CA392336720 | FBN1 | c.6380A>T (p.Asp2127Val) c.1379A>T (p.Asp460Val) c.*2143A>T (n.*2143A>T) c.1687A>T | ClinVar dbSNP |
| 15 | g.48437077T>C | CA392336721 | FBN1 | c.6380A>G (p.Asp2127Gly) c.1379A>G (p.Asp460Gly) c.*2143A>G (n.*2143A>G) c.1687A>G | ClinVar dbSNP |
| 15 | g.48437077T>G | CA392336722 | FBN1 | c.6380A>C (p.Asp2127Ala) c.1379A>C (p.Asp460Ala) c.*2143A>C (n.*2143A>C) c.1687A>C | ClinVar dbSNP |
| 15 | g.48437078C>A | CA392336723 | FBN1 | c.6380-1G>T (n.6380-1G>T) c.1379-1G>T (n.1379-1G>T) c.*2143-1G>T (n.*2143-1G>T) c.1687-1G>T | ClinVar dbSNP |
| 15 | g.48437078C= | CA2175502540 | FBN1 | c.6380-1G= (n.6380-1G=) c.1379-1G= (n.1379-1G=) c.*2143-1G= (n.*2143-1G=) c.1687-1G= | |
| 15 | g.48437078C>G | CA392336724 | FBN1 | c.6380-1G>C (n.6380-1G>C) c.1379-1G>C (n.1379-1G>C) c.*2143-1G>C (n.*2143-1G>C) c.1687-1G>C | |
| 15 | g.48437078C>T | CA392336725 | FBN1 | c.6380-1G>A (n.6380-1G>A) c.1379-1G>A (n.1379-1G>A) c.*2143-1G>A (n.*2143-1G>A) c.1687-1G>A | |
| 15 | g.48437078_48437079insAAC | CA2628333256 | FBN1 | c.6380-1_6380insTTG (n.6380-1_6380insTTG) c.1379-1_1379insTTG (n.1379-1_1379insTTG) c.*2143-1_*2143insTTG (n.*2143-1_*2143insTTG) c.1687-1_1687insTTG | gnomAD v4 |
| 15 | g.48437078_48437079insAACTGCTGAATCATCAGGTCCCACGA | CA2628333263 | FBN1 | c.6380-2_6380-1insTCGTGGGACCTGATGATTCAGCAGTT (n.6380-2_6380-1insTCGTGGGACCTGATGATTCAGCAGTT) c.1379-2_1379-1insTCGTGGGACCTGATGATTCAGCAGTT (n.1379-2_1379-1insTCGTGGGACCTGATGATTCAGCAGTT) c.*2143-2_*2143-1insTCGTGGGACCTGATGATTCAGCAGTT (n.*2143-2_*2143-1insTCGTGGGACCTGATGATTCAGCAGTT) c.1687-2_1687-1insTCGTGGGACCTGATGATTCAGCAGTT | gnomAD v4 |
| 15 | g.48437078_48437079insAACTGCTGAATCATCAGGTCCCACGATGATCCCACTTCCA | CA2628333262 | FBN1 | c.6380-2_6380-1insTGGAAGTGGGATCATCGTGGGACCTGATGATTCAGCAGTT (n.6380-2_6380-1insTGGAAGTGGGATCATCGTGGGACCTGATGATTCAGCAGTT) c.1379-2_1379-1insTGGAAGTGGGATCATCGTGGGACCTGATGATTCAGCAGTT (n.1379-2_1379-1insTGGAAGTGGGATCATCGTGGGACCTGATGATTCAGCAGTT) c.*2143-2_*2143-1insTGGAAGTGGGATCATCGTGGGACCTGATGATTCAGCAGTT (n.*2143-2_*2143-1insTGGAAGTGGGATCATCGTGGGACCTGATGATTCAGCAGTT) c.1687-2_1687-1insTGGAAGTGGGATCATCGTGGGACCTGATGATTCAGCAGTT | gnomAD v4 |
| 15 | g.48437078_48437079insAACTGCTGAATCATCAGGTCCCACGATGATCCCACTTCCATAAGGACA | CA2628333258 | FBN1 | c.6380-2_6380-1insTGTCCTTATGGAAGTGGGATCATCGTGGGACCTGATGATTCAGCAGTT (n.6380-2_6380-1insTGTCCTTATGGAAGTGGGATCATCGTGGGACCTGATGATTCAGCAGTT) c.1379-2_1379-1insTGTCCTTATGGAAGTGGGATCATCGTGGGACCTGATGATTCAGCAGTT (n.1379-2_1379-1insTGTCCTTATGGAAGTGGGATCATCGTGGGACCTGATGATTCAGCAGTT) c.*2143-2_*2143-1insTGTCCTTATGGAAGTGGGATCATCGTGGGACCTGATGATTCAGCAGTT (n.*2143-2_*2143-1insTGTCCTTATGGAAGTGGGATCATCGTGGGACCTGATGATTCAGCAGTT) c.1687-2_1687-1insTGTCCTTATGGAAGTGGGATCATCGTGGGACCTGATGATTCAGCAGTT | gnomAD v4 |
| 15 | g.48437078_48437079insAACTGCTGAATCATCAGGTCCCACGATGATCCCACTTCCATAAGGACATA | CA2628333261 | FBN1 | c.6380-2_6380-1insTATGTCCTTATGGAAGTGGGATCATCGTGGGACCTGATGATTCAGCAGTT (n.6380-2_6380-1insTATGTCCTTATGGAAGTGGGATCATCGTGGGACCTGATGATTCAGCAGTT) c.1379-2_1379-1insTATGTCCTTATGGAAGTGGGATCATCGTGGGACCTGATGATTCAGCAGTT (n.1379-2_1379-1insTATGTCCTTATGGAAGTGGGATCATCGTGGGACCTGATGATTCAGCAGTT) c.*2143-2_*2143-1insTATGTCCTTATGGAAGTGGGATCATCGTGGGACCTGATGATTCAGCAGTT (n.*2143-2_*2143-1insTATGTCCTTATGGAAGTGGGATCATCGTGGGACCTGATGATTCAGCAGTT) c.1687-2_1687-1insTATGTCCTTATGGAAGTGGGATCATCGTGGGACCTGATGATTCAGCAGTT | gnomAD v4 |
| 15 | g.48437078_48437079insAACTGCTGAATCATCAGGTCCCACGATGATCCCACTTCCATAAGGACATATCTGGCGGAAGGCCTCA | CA2628333260 | FBN1 | c.6380-2_6380-1insTGAGGCCTTCCGCCAGATATGTCCTTATGGAAGTGGGATCATCGTGGGACCTGATGATTCAGCAGTT (n.6380-2_6380-1insTGAGGCCTTCCGCCAGATATGTCCTTATGGAAGTGGGATCATCGTGGGACCTGATGATTCAGCAGTT) c.1379-2_1379-1insTGAGGCCTTCCGCCAGATATGTCCTTATGGAAGTGGGATCATCGTGGGACCTGATGATTCAGCAGTT (n.1379-2_1379-1insTGAGGCCTTCCGCCAGATATGTCCTTATGGAAGTGGGATCATCGTGGGACCTGATGATTCAGCAGTT) c.*2143-2_*2143-1insTGAGGCCTTCCGCCAGATATGTCCTTATGGAAGTGGGATCATCGTGGGACCTGATGATTCAGCAGTT (n.*2143-2_*2143-1insTGAGGCCTTCCGCCAGATATGTCCTTATGGAAGTGGGATCATCGTGGGACCTGATGATTCAGCAGTT) c.1687-2_1687-1insTGAGGCCTTCCGCCAGATATGTCCTTATGGAAGTGGGATCATCGTGGGACCTGATGATTCAGCAGTT | gnomAD v4 |
| 15 | g.48437078_48437079insAACTGCTGAATCATCAGGTCCCACGATGATCCCACTTCCATAAGGACATATCTGGCGGAAGGCCTCATCAGG | CA2628333259 | FBN1 | c.6380-2_6380-1insCCTGATGAGGCCTTCCGCCAGATATGTCCTTATGGAAGTGGGATCATCGTGGGACCTGATGATTCAGCAGTT (n.6380-2_6380-1insCCTGATGAGGCCTTCCGCCAGATATGTCCTTATGGAAGTGGGATCATCGTGGGACCTGATGATTCAGCAGTT) c.1379-2_1379-1insCCTGATGAGGCCTTCCGCCAGATATGTCCTTATGGAAGTGGGATCATCGTGGGACCTGATGATTCAGCAGTT (n.1379-2_1379-1insCCTGATGAGGCCTTCCGCCAGATATGTCCTTATGGAAGTGGGATCATCGTGGGACCTGATGATTCAGCAGTT) c.*2143-2_*2143-1insCCTGATGAGGCCTTCCGCCAGATATGTCCTTATGGAAGTGGGATCATCGTGGGACCTGATGATTCAGCAGTT (n.*2143-2_*2143-1insCCTGATGAGGCCTTCCGCCAGATATGTCCTTATGGAAGTGGGATCATCGTGGGACCTGATGATTCAGCAGTT) c.1687-2_1687-1insCCTGATGAGGCCTTCCGCCAGATATGTCCTTATGGAAGTGGGATCATCGTGGGACCTGATGATTCAGCAGTT | gnomAD v4 |
| 15 | g.48437079T>A | CA392336726 | FBN1 | c.6380-2A>T (n.6380-2A>T) c.1379-2A>T (n.1379-2A>T) c.*2143-2A>T (n.*2143-2A>T) c.1687-2A>T | |
| 15 | g.48437079T>C | CA392336727 | FBN1 | c.6380-2A>G (n.6380-2A>G) c.1379-2A>G (n.1379-2A>G) c.*2143-2A>G (n.*2143-2A>G) c.1687-2A>G | ClinVar dbSNP |
| 15 | g.48437079T>G | CA10603438 | FBN1 | c.6380-2A>C (n.6380-2A>C) c.1379-2A>C (n.1379-2A>C) c.*2143-2A>C (n.*2143-2A>C) c.1687-2A>C | ClinVar dbSNP |
| 15 | g.48437079T= | CA2175502547 | FBN1 | c.6380-2A= (n.6380-2A=) c.1379-2A= (n.1379-2A=) c.*2143-2A= (n.*2143-2A=) c.1687-2A= | |
| 15 | g.48437079_48437080insGCTGAATCATCAGGTCCCACGATGATCCCACTTCCA | CA2628333264 | FBN1 | c.6380-3_6380-2insTGGAAGTGGGATCATCGTGGGACCTGATGATTCAGC (n.6380-3_6380-2insTGGAAGTGGGATCATCGTGGGACCTGATGATTCAGC) c.1379-3_1379-2insTGGAAGTGGGATCATCGTGGGACCTGATGATTCAGC (n.1379-3_1379-2insTGGAAGTGGGATCATCGTGGGACCTGATGATTCAGC) c.*2143-3_*2143-2insTGGAAGTGGGATCATCGTGGGACCTGATGATTCAGC (n.*2143-3_*2143-2insTGGAAGTGGGATCATCGTGGGACCTGATGATTCAGC) c.1687-3_1687-2insTGGAAGTGGGATCATCGTGGGACCTGATGATTCAGC | gnomAD v4 |
| 15 | g.48437079_48437080insGCTGAATCATCAGGTCCCACGATGATCCCACTTCCATAAGGACA | CA2628333265 | FBN1 | c.6380-3_6380-2insTGTCCTTATGGAAGTGGGATCATCGTGGGACCTGATGATTCAGC (n.6380-3_6380-2insTGTCCTTATGGAAGTGGGATCATCGTGGGACCTGATGATTCAGC) c.1379-3_1379-2insTGTCCTTATGGAAGTGGGATCATCGTGGGACCTGATGATTCAGC (n.1379-3_1379-2insTGTCCTTATGGAAGTGGGATCATCGTGGGACCTGATGATTCAGC) c.*2143-3_*2143-2insTGTCCTTATGGAAGTGGGATCATCGTGGGACCTGATGATTCAGC (n.*2143-3_*2143-2insTGTCCTTATGGAAGTGGGATCATCGTGGGACCTGATGATTCAGC) c.1687-3_1687-2insTGTCCTTATGGAAGTGGGATCATCGTGGGACCTGATGATTCAGC | gnomAD v4 |
| 15 | g.48437080T>C | CA056723 | FBN1 | c.6380-3A>G (n.6380-3A>G) c.1379-3A>G (n.1379-3A>G) c.*2143-3A>G (n.*2143-3A>G) c.1687-3A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48437080T>G | CA2628333266 | FBN1 | c.6380-3A>C (n.6380-3A>C) c.1379-3A>C (n.1379-3A>C) c.*2143-3A>C (n.*2143-3A>C) c.1687-3A>C | gnomAD v4 |
| 15 | g.48437080T= | CA2175502551 | FBN1 | c.6380-3A= (n.6380-3A=) c.1379-3A= (n.1379-3A=) c.*2143-3A= (n.*2143-3A=) c.1687-3A= | |
| 15 | g.48437081A= | CA2175502554 | FBN1 | c.6380-4T= (n.6380-4T=) c.1379-4T= (n.1379-4T=) c.*2143-4T= (n.*2143-4T=) c.1687-4T= | |
| 15 | g.48437081A>G | CA056735 | FBN1 | c.6380-4T>C (n.6380-4T>C) c.1379-4T>C (n.1379-4T>C) c.*2143-4T>C (n.*2143-4T>C) c.1687-4T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48437083G>A | CA617835689 | FBN1 | c.6380-6C>T (n.6380-6C>T) c.1379-6C>T (n.1379-6C>T) c.*2143-6C>T (n.*2143-6C>T) c.1687-6C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48437083G= | CA2175502557 | FBN1 | c.6380-6C= (n.6380-6C=) c.1379-6C= (n.1379-6C=) c.*2143-6C= (n.*2143-6C=) c.1687-6C= | |
| 15 | g.48437083G>T | CA2575716846 | FBN1 | c.6380-6C>A (n.6380-6C>A) c.1379-6C>A (n.1379-6C>A) c.*2143-6C>A (n.*2143-6C>A) c.1687-6C>A | gnomAD v4 |
| 15 | g.48437083_48437084insGACATATCTGGCGGAAGGCCTCATCAGGTTCCG | CA2628333267 | FBN1 | c.6380-6_6380-5insGGAACCTGATGAGGCCTTCCGCCAGATATGTCC (n.6380-6_6380-5insGGAACCTGATGAGGCCTTCCGCCAGATATGTCC) c.1379-6_1379-5insGGAACCTGATGAGGCCTTCCGCCAGATATGTCC (n.1379-6_1379-5insGGAACCTGATGAGGCCTTCCGCCAGATATGTCC) c.*2143-6_*2143-5insGGAACCTGATGAGGCCTTCCGCCAGATATGTCC (n.*2143-6_*2143-5insGGAACCTGATGAGGCCTTCCGCCAGATATGTCC) c.1687-6_1687-5insGGAACCTGATGAGGCCTTCCGCCAGATATGTCC | gnomAD v4 |
| 15 | g.48437084C>A | CA617835690 | FBN1 | c.6380-7G>T (n.6380-7G>T) c.1379-7G>T (n.1379-7G>T) c.*2143-7G>T (n.*2143-7G>T) c.1687-7G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48437084C= | CA2175502560 | FBN1 | c.6380-7G= (n.6380-7G=) c.1379-7G= (n.1379-7G=) c.*2143-7G= (n.*2143-7G=) c.1687-7G= | |
| 15 | g.48437085A>G | CA2628333268 | FBN1 | c.6380-8T>C (n.6380-8T>C) c.1379-8T>C (n.1379-8T>C) c.*2143-8T>C (n.*2143-8T>C) c.1687-8T>C | gnomAD v4 |
| 15 | g.48437087G>A | CA617835691 | FBN1 | c.6380-10C>T (n.6380-10C>T) c.1379-10C>T (n.1379-10C>T) c.*2143-10C>T (n.*2143-10C>T) c.1687-10C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48437087G= | CA2175502561 | FBN1 | c.6380-10C= (n.6380-10C=) c.1379-10C= (n.1379-10C=) c.*2143-10C= (n.*2143-10C=) c.1687-10C= | |
| 15 | g.48437087G>T | CA2628333269 | FBN1 | c.6380-10C>A (n.6380-10C>A) c.1379-10C>A (n.1379-10C>A) c.*2143-10C>A (n.*2143-10C>A) c.1687-10C>A | gnomAD v4 |
| 15 | g.48437088A= | CA2175502565 | FBN1 | c.6380-11T= (n.6380-11T=) c.1379-11T= (n.1379-11T=) c.*2143-11T= (n.*2143-11T=) c.1687-11T= | |
| 15 | g.48437088A>G | CA2628333270 | FBN1 | c.6380-11T>C (n.6380-11T>C) c.1379-11T>C (n.1379-11T>C) c.*2143-11T>C (n.*2143-11T>C) c.1687-11T>C | gnomAD v4 |
| 15 | g.48437088_48437089delinsAG | CA2175502566 | FBN1 | c.6380-12_6380-11delinsCT (n.6380-12_6380-11delinsCT) c.1379-12_1379-11delinsCT (n.1379-12_1379-11delinsCT) c.*2143-12_*2143-11delinsCT (n.*2143-12_*2143-11delinsCT) c.1687-12_1687-11delinsCT | |
| 15 | g.48437088_48437089insC | CA2175502599 | FBN1 | c.6380-12_6380-11insG (n.6380-12_6380-11insG) c.1379-12_1379-11insG (n.1379-12_1379-11insG) c.*2143-12_*2143-11insG (n.*2143-12_*2143-11insG) c.1687-12_1687-11insG | dbSNP gnomAD v4 |
| 15 | g.48437089G>A | CA617835692 | FBN1 | c.6380-12C>T (n.6380-12C>T) c.1379-12C>T (n.1379-12C>T) c.*2143-12C>T (n.*2143-12C>T) c.1687-12C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48437089G>C | CA056683 | FBN1 | c.6380-12C>G (n.6380-12C>G) c.1379-12C>G (n.1379-12C>G) c.*2143-12C>G (n.*2143-12C>G) c.1687-12C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48437089G= | CA2175502578 | FBN1 | c.6380-12C= (n.6380-12C=) c.1379-12C= (n.1379-12C=) c.*2143-12C= (n.*2143-12C=) c.1687-12C= | |
| 15 | g.48437089G>T | CA2628333271 | FBN1 | c.6380-12C>A (n.6380-12C>A) c.1379-12C>A (n.1379-12C>A) c.*2143-12C>A (n.*2143-12C>A) c.1687-12C>A | gnomAD v4 |
| 15 | g.48437089delinsCA | CA913187698 | FBN1 | c.6380-12delinsTG (n.6380-12delinsTG) c.1379-12delinsTG (n.1379-12delinsTG) c.*2143-12delinsTG (n.*2143-12delinsTG) c.1687-12delinsTG | ClinVar dbSNP |
| 15 | g.48437089_48437090delinsGA | CA2175502579 | FBN1 | c.6380-13_6380-12delinsTC (n.6380-13_6380-12delinsTC) c.1379-13_1379-12delinsTC (n.1379-13_1379-12delinsTC) c.*2143-13_*2143-12delinsTC (n.*2143-13_*2143-12delinsTC) c.1687-13_1687-12delinsTC | |
| 15 | g.48437097dup | CA7547909 | FBN1 | c.6380-13dup (n.6380-13dup) c.1379-13dup (n.1379-13dup) c.*2143-13dup (n.*2143-13dup) c.1687-13dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48437097del | CA269526273 | FBN1 | c.6380-13del (n.6380-13del) c.1379-13del (n.1379-13del) c.*2143-13del (n.*2143-13del) c.1687-13del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48437091A>G | CA2628333272 | FBN1 | c.6380-14T>C (n.6380-14T>C) c.1379-14T>C (n.1379-14T>C) c.*2143-14T>C (n.*2143-14T>C) c.1687-14T>C | gnomAD v4 |
| 15 | g.48437092A= | CA2175502605 | FBN1 | c.6380-15T= (n.6380-15T=) c.1379-15T= (n.1379-15T=) c.*2143-15T= (n.*2143-15T=) c.1687-15T= | |
| 15 | g.48437092A>T | CA1139663956 | FBN1 | c.6380-15T>A (n.6380-15T>A) c.1379-15T>A (n.1379-15T>A) c.*2143-15T>A (n.*2143-15T>A) c.1687-15T>A | ClinVar dbSNP gnomAD v4 |
| 15 | g.48437096A= | CA2175502607 | FBN1 | c.6380-19T= (n.6380-19T=) c.1379-19T= (n.1379-19T=) c.*2143-19T= (n.*2143-19T=) c.1687-19T= | |
| 15 | g.48437096A>T | CA056688 | FBN1 | c.6380-19T>A (n.6380-19T>A) c.1379-19T>A (n.1379-19T>A) c.*2143-19T>A (n.*2143-19T>A) c.1687-19T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48437097A= | CA2175502609 | FBN1 | c.6380-20T= (n.6380-20T=) c.1379-20T= (n.1379-20T=) c.*2143-20T= (n.*2143-20T=) c.1687-20T= | |
| 15 | g.48437097A>G | CA056690 | FBN1 | c.6380-20T>C (n.6380-20T>C) c.1379-20T>C (n.1379-20T>C) c.*2143-20T>C (n.*2143-20T>C) c.1687-20T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48437097A>T | CA2628333273 | FBN1 | c.6380-20T>A (n.6380-20T>A) c.1379-20T>A (n.1379-20T>A) c.*2143-20T>A (n.*2143-20T>A) c.1687-20T>A | gnomAD v4 |
| 15 | g.48437098T>A | CA056694 | FBN1 | c.6380-21A>T (n.6380-21A>T) c.1379-21A>T (n.1379-21A>T) c.*2143-21A>T (n.*2143-21A>T) c.1687-21A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48437098T>C | CA969547177 | FBN1 | c.6380-21A>G (n.6380-21A>G) c.1379-21A>G (n.1379-21A>G) c.*2143-21A>G (n.*2143-21A>G) c.1687-21A>G | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48437098T= | CA2175502614 | FBN1 | c.6380-21A= (n.6380-21A=) c.1379-21A= (n.1379-21A=) c.*2143-21A= (n.*2143-21A=) c.1687-21A= | |
| 15 | g.48437099A= | CA2175502618 | FBN1 | c.6380-22T= (n.6380-22T=) c.1379-22T= (n.1379-22T=) c.*2143-22T= (n.*2143-22T=) c.1687-22T= | |
| 15 | g.48437099A>T | CA617835693 | FBN1 | c.6380-22T>A (n.6380-22T>A) c.1379-22T>A (n.1379-22T>A) c.*2143-22T>A (n.*2143-22T>A) c.1687-22T>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48437100G>A | CA056700 | FBN1 | c.6380-23C>T (n.6380-23C>T) c.1379-23C>T (n.1379-23C>T) c.*2143-23C>T (n.*2143-23C>T) c.1687-23C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48437100G>C | CA2804070963 | FBN1 | c.6380-23C>G (n.6380-23C>G) c.1379-23C>G (n.1379-23C>G) c.*2143-23C>G (n.*2143-23C>G) c.1687-23C>G | |
| 15 | g.48437100G= | CA2175502620 | FBN1 | c.6380-23C= (n.6380-23C=) c.1379-23C= (n.1379-23C=) c.*2143-23C= (n.*2143-23C=) c.1687-23C= | |
| 15 | g.48437100G>T | CA2628333274 | FBN1 | c.6380-23C>A (n.6380-23C>A) c.1379-23C>A (n.1379-23C>A) c.*2143-23C>A (n.*2143-23C>A) c.1687-23C>A | gnomAD v4 |
| 15 | g.48437102G>A | CA713398269 | FBN1 | c.6380-25C>T (n.6380-25C>T) c.1379-25C>T (n.1379-25C>T) c.*2143-25C>T (n.*2143-25C>T) c.1687-25C>T | dbSNP |
| 15 | g.48437102G= | CA2175502623 | FBN1 | c.6380-25C= (n.6380-25C=) c.1379-25C= (n.1379-25C=) c.*2143-25C= (n.*2143-25C=) c.1687-25C= | |
| 15 | g.48437102G>T | CA2628333275 | FBN1 | c.6380-25C>A (n.6380-25C>A) c.1379-25C>A (n.1379-25C>A) c.*2143-25C>A (n.*2143-25C>A) c.1687-25C>A | gnomAD v4 |
| 15 | g.48437103A= | CA2175502635 | FBN1 | c.6380-26T= (n.6380-26T=) c.1379-26T= (n.1379-26T=) c.*2143-26T= (n.*2143-26T=) c.1687-26T= | |
| 15 | g.48437103A>T | CA2175502633 | FBN1 | c.6380-26T>A (n.6380-26T>A) c.1379-26T>A (n.1379-26T>A) c.*2143-26T>A (n.*2143-26T>A) c.1687-26T>A | dbSNP |
| 15 | g.48437105T>A | CA2575716855 | FBN1 | c.6380-28A>T (n.6380-28A>T) c.1379-28A>T (n.1379-28A>T) c.*2143-28A>T (n.*2143-28A>T) c.1687-28A>T | |
| 15 | g.48437108C>A | CA713398298 | FBN1 | c.6380-31G>T (n.6380-31G>T) c.1379-31G>T (n.1379-31G>T) c.*2143-31G>T (n.*2143-31G>T) c.1687-31G>T | dbSNP |
| 15 | g.48437108C= | CA2175502638 | FBN1 | c.6380-31G= (n.6380-31G=) c.1379-31G= (n.1379-31G=) c.*2143-31G= (n.*2143-31G=) c.1687-31G= | |
| 15 | g.48437108C>T | CA617835694 | FBN1 | c.6380-31G>A (n.6380-31G>A) c.1379-31G>A (n.1379-31G>A) c.*2143-31G>A (n.*2143-31G>A) c.1687-31G>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48437109A= | CA2175502646 | FBN1 | c.6380-32T= (n.6380-32T=) c.1379-32T= (n.1379-32T=) c.*2143-32T= (n.*2143-32T=) c.1687-32T= | |
| 15 | g.48437109A>T | CA2175502652 | FBN1 | c.6380-32T>A (n.6380-32T>A) c.1379-32T>A (n.1379-32T>A) c.*2143-32T>A (n.*2143-32T>A) c.1687-32T>A | dbSNP gnomAD v4 |
| 15 | g.48437110A>G | CA2628333276 | FBN1 | c.6380-33T>C (n.6380-33T>C) c.1379-33T>C (n.1379-33T>C) c.*2143-33T>C (n.*2143-33T>C) c.1687-33T>C | gnomAD v4 |
| 15 | g.48437111G>A | CA056707 | FBN1 | c.6380-34C>T (n.6380-34C>T) c.1379-34C>T (n.1379-34C>T) c.*2143-34C>T (n.*2143-34C>T) c.1687-34C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48437111G>C | CA713398304 | FBN1 | c.6380-34C>G (n.6380-34C>G) c.1379-34C>G (n.1379-34C>G) c.*2143-34C>G (n.*2143-34C>G) c.1687-34C>G | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48437111G= | CA2175502656 | FBN1 | c.6380-34C= (n.6380-34C=) c.1379-34C= (n.1379-34C=) c.*2143-34C= (n.*2143-34C=) c.1687-34C= | |
| 15 | g.48437111G>T | CA2628333277 | FBN1 | c.6380-34C>A (n.6380-34C>A) c.1379-34C>A (n.1379-34C>A) c.*2143-34C>A (n.*2143-34C>A) c.1687-34C>A | gnomAD v4 |
| 15 | g.48437112G>A | CA056718 | FBN1 | c.6380-35C>T (n.6380-35C>T) c.1379-35C>T (n.1379-35C>T) c.*2143-35C>T (n.*2143-35C>T) c.1687-35C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48437112G>C | CA056712 | FBN1 | c.6380-35C>G (n.6380-35C>G) c.1379-35C>G (n.1379-35C>G) c.*2143-35C>G (n.*2143-35C>G) c.1687-35C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48437112G= | CA2175502659 | FBN1 | c.6380-35C= (n.6380-35C=) c.1379-35C= (n.1379-35C=) c.*2143-35C= (n.*2143-35C=) c.1687-35C= | |
| 15 | g.48437112G>T | CA2575716879 | FBN1 | c.6380-35C>A (n.6380-35C>A) c.1379-35C>A (n.1379-35C>A) c.*2143-35C>A (n.*2143-35C>A) c.1687-35C>A | |
| 15 | g.48437113T>C | CA2575716882 | FBN1 | c.6380-36A>G (n.6380-36A>G) c.1379-36A>G (n.1379-36A>G) c.*2143-36A>G (n.*2143-36A>G) c.1687-36A>G | |
| 15 | g.48437114A= | CA2175502660 | FBN1 | c.6380-37T= (n.6380-37T=) c.1379-37T= (n.1379-37T=) c.*2143-37T= (n.*2143-37T=) c.1687-37T= | |
| 15 | g.48437115T>A | CA269526316 | FBN1 | c.6380-38A>T (n.6380-38A>T) c.1379-38A>T (n.1379-38A>T) c.*2143-38A>T (n.*2143-38A>T) c.1687-38A>T | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48437115T>C | CA2628333278 | FBN1 | c.6380-38A>G (n.6380-38A>G) c.1379-38A>G (n.1379-38A>G) c.*2143-38A>G (n.*2143-38A>G) c.1687-38A>G | gnomAD v4 |
| 15 | g.48437115T>G | CA269526321 | FBN1 | c.6380-38A>C (n.6380-38A>C) c.1379-38A>C (n.1379-38A>C) c.*2143-38A>C (n.*2143-38A>C) c.1687-38A>C | dbSNP |
| 15 | g.48437115T= | CA2175502662 | FBN1 | c.6380-38A= (n.6380-38A=) c.1379-38A= (n.1379-38A=) c.*2143-38A= (n.*2143-38A=) c.1687-38A= | |
| 15 | g.48437120dup | CA713398312 | FBN1 | c.6380-38dup (n.6380-38dup) c.1379-38dup (n.1379-38dup) c.*2143-38dup (n.*2143-38dup) c.1687-38dup | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48437120del | CA2575716887 | FBN1 | c.6380-38del (n.6380-38del) c.1379-38del (n.1379-38del) c.*2143-38del (n.*2143-38del) c.1687-38del | gnomAD v4 |
| 15 | g.48437116T>G | CA2628333279 | FBN1 | c.6380-39A>C (n.6380-39A>C) c.1379-39A>C (n.1379-39A>C) c.*2143-39A>C (n.*2143-39A>C) c.1687-39A>C | gnomAD v4 |
| 15 | g.48437120T>C | CA2628333280 | FBN1 | c.6380-43A>G (n.6380-43A>G) c.1379-43A>G (n.1379-43A>G) c.*2143-43A>G (n.*2143-43A>G) c.1687-43A>G | gnomAD v4 |
| 15 | g.48437120_48437121insTTCTCTTGCATTCGTCCATATCTTAAGCAAGAGA | CA2628333281 | FBN1 | c.6380-44_6380-43insTCTCTTGCTTAAGATATGGACGAATGCAAGAGAA (n.6380-44_6380-43insTCTCTTGCTTAAGATATGGACGAATGCAAGAGAA) c.1379-44_1379-43insTCTCTTGCTTAAGATATGGACGAATGCAAGAGAA (n.1379-44_1379-43insTCTCTTGCTTAAGATATGGACGAATGCAAGAGAA) c.*2143-44_*2143-43insTCTCTTGCTTAAGATATGGACGAATGCAAGAGAA (n.*2143-44_*2143-43insTCTCTTGCTTAAGATATGGACGAATGCAAGAGAA) c.1687-44_1687-43insTCTCTTGCTTAAGATATGGACGAATGCAAGAGAA | gnomAD v4 |
| 15 | g.48437123A= | CA2175502668 | FBN1 | c.6380-46T= (n.6380-46T=) c.1379-46T= (n.1379-46T=) c.*2143-46T= (n.*2143-46T=) c.1687-46T= | |
| 15 | g.48437123A>C | CA056731 | FBN1 | c.6380-46T>G (n.6380-46T>G) c.1379-46T>G (n.1379-46T>G) c.*2143-46T>G (n.*2143-46T>G) c.1687-46T>G | dbSNP ExAC |
| 15 | g.48437124C= | CA2175502672 | FBN1 | c.6380-47G= (n.6380-47G=) c.1379-47G= (n.1379-47G=) c.*2143-47G= (n.*2143-47G=) c.1687-47G= | |
| 15 | g.48437124C>T | CA656135549 | FBN1 | c.6380-47G>A (n.6380-47G>A) c.1379-47G>A (n.1379-47G>A) c.*2143-47G>A (n.*2143-47G>A) c.1687-47G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48437125G>A | CA269526329 | FBN1 | c.6380-48C>T (n.6380-48C>T) c.1379-48C>T (n.1379-48C>T) c.*2143-48C>T (n.*2143-48C>T) c.1687-48C>T | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48437125G= | CA2175502675 | FBN1 | c.6380-48C= (n.6380-48C=) c.1379-48C= (n.1379-48C=) c.*2143-48C= (n.*2143-48C=) c.1687-48C= | |
| 15 | g.48437125G>T | CA2175502678 | FBN1 | c.6380-48C>A (n.6380-48C>A) c.1379-48C>A (n.1379-48C>A) c.*2143-48C>A (n.*2143-48C>A) c.1687-48C>A | dbSNP gnomAD v4 |
| 15 | g.48437126T>A | CA2628333282 | FBN1 | c.6380-49A>T (n.6380-49A>T) c.1379-49A>T (n.1379-49A>T) c.*2143-49A>T (n.*2143-49A>T) c.1687-49A>T | gnomAD v4 |
| 15 | g.48437127G>A | CA056742 | FBN1 | c.6380-50C>T (n.6380-50C>T) c.1379-50C>T (n.1379-50C>T) c.*2143-50C>T (n.*2143-50C>T) c.1687-50C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48437127G= | CA2175502680 | FBN1 | c.6380-50C= (n.6380-50C=) c.1379-50C= (n.1379-50C=) c.*2143-50C= (n.*2143-50C=) c.1687-50C= | |
| 15 | g.48437127G>T | CA2575716899 | FBN1 | c.6380-50C>A (n.6380-50C>A) c.1379-50C>A (n.1379-50C>A) c.*2143-50C>A (n.*2143-50C>A) c.1687-50C>A | gnomAD v4 |
| 15 | g.48437128A= | CA2175502683 | FBN1 | c.6380-51T= (n.6380-51T=) c.1379-51T= (n.1379-51T=) c.*2143-51T= (n.*2143-51T=) c.1687-51T= | |
| 15 | g.48437128A>G | CA617835695 | FBN1 | c.6380-51T>C (n.6380-51T>C) c.1379-51T>C (n.1379-51T>C) c.*2143-51T>C (n.*2143-51T>C) c.1687-51T>C | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48437128A>T | CA2575716901 | FBN1 | c.6380-51T>A (n.6380-51T>A) c.1379-51T>A (n.1379-51T>A) c.*2143-51T>A (n.*2143-51T>A) c.1687-51T>A | |
| 15 | g.48437130G>T | CA2628333283 | FBN1 | c.6380-53C>A (n.6380-53C>A) c.1379-53C>A (n.1379-53C>A) c.*2143-53C>A (n.*2143-53C>A) c.1687-53C>A | gnomAD v4 |
| 15 | g.48437132T>C | CA2175502687 | FBN1 | c.6380-55A>G (n.6380-55A>G) c.1379-55A>G (n.1379-55A>G) c.*2143-55A>G (n.*2143-55A>G) c.1687-55A>G | dbSNP gnomAD v4 |
| 15 | g.48437132T= | CA2175502685 | FBN1 | c.6380-55A= (n.6380-55A=) c.1379-55A= (n.1379-55A=) c.*2143-55A= (n.*2143-55A=) c.1687-55A= | |
| 15 | g.48437133A= | CA2175502690 | FBN1 | c.6380-56T= (n.6380-56T=) c.1379-56T= (n.1379-56T=) c.*2143-56T= (n.*2143-56T=) c.1687-56T= | |
| 15 | g.48437133A>G | CA617835696 | FBN1 | c.6380-56T>C (n.6380-56T>C) c.1379-56T>C (n.1379-56T>C) c.*2143-56T>C (n.*2143-56T>C) c.1687-56T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48437134A= | CA2175502694 | FBN1 | c.6380-57T= (n.6380-57T=) c.1379-57T= (n.1379-57T=) c.*2143-57T= (n.*2143-57T=) c.1687-57T= | |
| 15 | g.48437134A>G | CA969547186 | FBN1 | c.6380-57T>C (n.6380-57T>C) c.1379-57T>C (n.1379-57T>C) c.*2143-57T>C (n.*2143-57T>C) c.1687-57T>C | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48437135_48437141del | CA2628333284 | FBN1 | c.6380-63_6380-57del (n.6380-63_6380-57del) c.1379-63_1379-57del (n.1379-63_1379-57del) c.*2143-63_*2143-57del (n.*2143-63_*2143-57del) c.1687-63_1687-57del | gnomAD v4 |
| 15 | g.48437135A= | CA2175502697 | FBN1 | c.6380-58T= (n.6380-58T=) c.1379-58T= (n.1379-58T=) c.*2143-58T= (n.*2143-58T=) c.1687-58T= | |
| 15 | g.48437135A>G | CA269526332 | FBN1 | c.6380-58T>C (n.6380-58T>C) c.1379-58T>C (n.1379-58T>C) c.*2143-58T>C (n.*2143-58T>C) c.1687-58T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48437136T>C | CA969547193 | FBN1 | c.6380-59A>G (n.6380-59A>G) c.1379-59A>G (n.1379-59A>G) c.*2143-59A>G (n.*2143-59A>G) c.1687-59A>G | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48437136T= | CA2175502700 | FBN1 | c.6380-59A= (n.6380-59A=) c.1379-59A= (n.1379-59A=) c.*2143-59A= (n.*2143-59A=) c.1687-59A= | |
| 15 | g.48437138A= | CA2175502704 | FBN1 | c.6380-61T= (n.6380-61T=) c.1379-61T= (n.1379-61T=) c.*2143-61T= (n.*2143-61T=) c.1687-61T= | |
| 15 | g.48437138A>C | CA2628333286 | FBN1 | c.6380-61T>G (n.6380-61T>G) c.1379-61T>G (n.1379-61T>G) c.*2143-61T>G (n.*2143-61T>G) c.1687-61T>G | gnomAD v4 |
| 15 | g.48437138A>G | CA2175502705 | FBN1 | c.6380-61T>C (n.6380-61T>C) c.1379-61T>C (n.1379-61T>C) c.*2143-61T>C (n.*2143-61T>C) c.1687-61T>C | dbSNP |
| 15 | g.48437138A>T | CA2628333285 | FBN1 | c.6380-61T>A (n.6380-61T>A) c.1379-61T>A (n.1379-61T>A) c.*2143-61T>A (n.*2143-61T>A) c.1687-61T>A | gnomAD v4 |