| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48485401G>A | CA490017379 | FBN1 | c.3685C>T (p.Leu1229=) n.2359C>T c.637-10751C>T (n.637-10751C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48485401G>C | CA392324351 | FBN1 | c.3685C>G (p.Leu1229Val) n.2359C>G c.637-10751C>G (n.637-10751C>G) | |
| 15 | g.48485401G= | CA2175511798 | FBN1 | c.3685C= (p.Leu1229=) n.2359C= c.637-10751C= (n.637-10751C=) | |
| 15 | g.48485401G>T | CA392324352 | FBN1 | c.3685C>A (p.Leu1229Ile) n.2359C>A c.637-10751C>A (n.637-10751C>A) | |
| 15 | g.48485402T>A | CA490017384 | FBN1 | c.3684A>T (p.Ala1228=) n.2358A>T c.637-10752A>T (n.637-10752A>T) | |
| 15 | g.48485402T>C | CA490017383 | FBN1 | c.3684A>G (p.Ala1228=) n.2358A>G c.637-10752A>G (n.637-10752A>G) | |
| 15 | g.48485402T>G | CA490017382 | FBN1 | c.3684A>C (p.Ala1228=) n.2358A>C c.637-10752A>C (n.637-10752A>C) | |
| 15 | g.48485403G>A | CA392324353 | FBN1 | c.3683C>T (p.Ala1228Val) n.2357C>T c.637-10753C>T (n.637-10753C>T) | gnomAD v4 |
| 15 | g.48485403G>C | CA392324355 | FBN1 | c.3683C>G (p.Ala1228Gly) n.2357C>G c.637-10753C>G (n.637-10753C>G) | |
| 15 | g.48485403G>T | CA392324354 | FBN1 | c.3683C>A (p.Ala1228Glu) n.2357C>A c.637-10753C>A (n.637-10753C>A) | |
| 15 | g.48485404C>A | CA392324356 | FBN1 | c.3682G>T (p.Ala1228Ser) n.2356G>T c.637-10754G>T (n.637-10754G>T) | gnomAD v4 |
| 15 | g.48485404C>G | CA392324357 | FBN1 | c.3682G>C (p.Ala1228Pro) n.2356G>C c.637-10754G>C (n.637-10754G>C) | |
| 15 | g.48485404C>T | CA392324358 | FBN1 | c.3682G>A (p.Ala1228Thr) n.2356G>A c.637-10754G>A (n.637-10754G>A) | gnomAD v4 |
| 15 | g.48485405A= | CA2175511805 | FBN1 | c.3681T= (p.Phe1227=) n.2355T= c.637-10755T= (n.637-10755T=) | |
| 15 | g.48485405A>C | CA392324359 | FBN1 | c.3681T>G (p.Phe1227Leu) n.2355T>G c.637-10755T>G (n.637-10755T>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48485405A>G | CA490017399 | FBN1 | c.3681T>C (p.Phe1227=) n.2355T>C c.637-10755T>C (n.637-10755T>C) | |
| 15 | g.48485405A>T | CA392324360 | FBN1 | c.3681T>A (p.Phe1227Leu) n.2355T>A c.637-10755T>A (n.637-10755T>A) | |
| 15 | g.48485406A>C | CA392324361 | FBN1 | c.3680T>G (p.Phe1227Cys) n.2354T>G c.637-10756T>G (n.637-10756T>G) | |
| 15 | g.48485406A>G | CA392324362 | FBN1 | c.3680T>C (p.Phe1227Ser) n.2354T>C c.637-10756T>C (n.637-10756T>C) | |
| 15 | g.48485406A>T | CA392324363 | FBN1 | c.3680T>A (p.Phe1227Tyr) n.2354T>A c.637-10756T>A (n.637-10756T>A) | |
| 15 | g.48485407A>C | CA392324364 | FBN1 | c.3679T>G (p.Phe1227Val) n.2353T>G c.637-10757T>G (n.637-10757T>G) | |
| 15 | g.48485407A>G | CA392324365 | FBN1 | c.3679T>C (p.Phe1227Leu) n.2353T>C c.637-10757T>C (n.637-10757T>C) | |
| 15 | g.48485407A>T | CA392324366 | FBN1 | c.3679T>A (p.Phe1227Ile) n.2353T>A c.637-10757T>A (n.637-10757T>A) | |
| 15 | g.48485408T>A | CA490017406 | FBN1 | c.3678A>T (p.Gly1226=) n.2352A>T c.637-10758A>T (n.637-10758A>T) | gnomAD v4 |
| 15 | g.48485408T>C | CA490017408 | FBN1 | c.3678A>G (p.Gly1226=) n.2352A>G c.637-10758A>G (n.637-10758A>G) | |
| 15 | g.48485408T>G | CA490017409 | FBN1 | c.3678A>C (p.Gly1226=) n.2352A>C c.637-10758A>C (n.637-10758A>C) | |
| 15 | g.48485409C>A | CA392324369 | FBN1 | c.3677G>T (p.Gly1226Val) n.2351G>T c.637-10759G>T (n.637-10759G>T) | ClinVar dbSNP |
| 15 | g.48485409C= | CA2175511810 | FBN1 | c.3677G= (p.Gly1226=) n.2351G= c.637-10759G= (n.637-10759G=) | |
| 15 | g.48485409C>G | CA392324368 | FBN1 | c.3677G>C (p.Gly1226Ala) n.2351G>C c.637-10759G>C (n.637-10759G>C) | |
| 15 | g.48485409C>T | CA392324367 | FBN1 | c.3677G>A (p.Gly1226Glu) n.2351G>A c.637-10759G>A (n.637-10759G>A) | |
| 15 | g.48485410C>A | CA392324370 | FBN1 | c.3676G>T (p.Gly1226Ter) n.2350G>T c.637-10760G>T (n.637-10760G>T) | |
| 15 | g.48485410C>G | CA392324371 | FBN1 | c.3676G>C (p.Gly1226Arg) n.2350G>C c.637-10760G>C (n.637-10760G>C) | |
| 15 | g.48485410C>T | CA392324372 | FBN1 | c.3676G>A (p.Gly1226Arg) n.2350G>A c.637-10760G>A (n.637-10760G>A) | COSMIC |
| 15 | g.48485411C>A | CA490017413 | FBN1 | c.3675G>T (p.Pro1225=) n.2349G>T c.637-10761G>T (n.637-10761G>T) | |
| 15 | g.48485411C= | CA2175511815 | FBN1 | c.3675G= (p.Pro1225=) n.2349G= c.637-10761G= (n.637-10761G=) | |
| 15 | g.48485411C>G | CA490017414 | FBN1 | c.3675G>C (p.Pro1225=) n.2349G>C c.637-10761G>C (n.637-10761G>C) | |
| 15 | g.48485411C>T | CA014448 | FBN1 | c.3675G>A (p.Pro1225=) n.2349G>A c.637-10761G>A (n.637-10761G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48485412G>A | CA051330 | FBN1 | c.3674C>T (p.Pro1225Leu) n.2348C>T c.637-10762C>T (n.637-10762C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48485412G>C | CA392324373 | FBN1 | c.3674C>G (p.Pro1225Arg) n.2348C>G c.637-10762C>G (n.637-10762C>G) | |
| 15 | g.48485412G= | CA2175511820 | FBN1 | c.3674C= (p.Pro1225=) n.2348C= c.637-10762C= (n.637-10762C=) | |
| 15 | g.48485412G>T | CA392324374 | FBN1 | c.3674C>A (p.Pro1225Gln) n.2348C>A c.637-10762C>A (n.637-10762C>A) | |
| 15 | g.48485413G>A | CA392324376 | FBN1 | c.3673C>T (p.Pro1225Ser) n.2347C>T c.637-10763C>T (n.637-10763C>T) | |
| 15 | g.48485413G>C | CA392324378 | FBN1 | c.3673C>G (p.Pro1225Ala) n.2347C>G c.637-10763C>G (n.637-10763C>G) | |
| 15 | g.48485413G>T | CA392324379 | FBN1 | c.3673C>A (p.Pro1225Thr) n.2347C>A c.637-10763C>A (n.637-10763C>A) | |
| 15 | g.48485414C>A | CA392324381 | FBN1 | c.3672G>T (p.Gln1224His) n.2346G>T c.637-10764G>T (n.637-10764G>T) | |
| 15 | g.48485414C>G | CA392324383 | FBN1 | c.3672G>C (p.Gln1224His) n.2346G>C c.637-10764G>C (n.637-10764G>C) | |
| 15 | g.48485414C>T | CA490017431 | FBN1 | c.3672G>A (p.Gln1224=) n.2346G>A c.637-10764G>A (n.637-10764G>A) | gnomAD v4 |
| 15 | g.48485415T>A | CA392324386 | FBN1 | c.3671A>T (p.Gln1224Leu) n.2345A>T c.637-10765A>T (n.637-10765A>T) | |
| 15 | g.48485415T>C | CA392324389 | FBN1 | c.3671A>G (p.Gln1224Arg) n.2345A>G c.637-10765A>G (n.637-10765A>G) | ClinVar dbSNP |
| 15 | g.48485415T>G | CA392324387 | FBN1 | c.3671A>C (p.Gln1224Pro) n.2345A>C c.637-10765A>C (n.637-10765A>C) | gnomAD v4 |
| 15 | g.48485416G>A | CA392324391 | FBN1 | c.3670C>T (p.Gln1224Ter) n.2344C>T c.637-10766C>T (n.637-10766C>T) | |
| 15 | g.48485416G>C | CA392324394 | FBN1 | c.3670C>G (p.Gln1224Glu) n.2344C>G c.637-10766C>G (n.637-10766C>G) | |
| 15 | g.48485416G>T | CA392324393 | FBN1 | c.3670C>A (p.Gln1224Lys) n.2344C>A c.637-10766C>A (n.637-10766C>A) | gnomAD v4 |
| 15 | g.48485417_48485420del | CA2695220669 | FBN1 | c.3667_3670del (p.Cys1223SerfsTer6) n.2341_2344del c.637-10769_637-10766del (n.637-10769_637-10766del) | |
| 15 | g.48485417A= | CA2175511831 | FBN1 | c.3669T= (p.Cys1223=) n.2343T= c.637-10767T= (n.637-10767T=) | |
| 15 | g.48485417A>C | CA392324396 | FBN1 | c.3669T>G (p.Cys1223Trp) n.2343T>G c.637-10767T>G (n.637-10767T>G) | |
| 15 | g.48485417A>G | CA490017444 | FBN1 | c.3669T>C (p.Cys1223=) n.2343T>C c.637-10767T>C (n.637-10767T>C) | COSMIC |
| 15 | g.48485417A>T | CA10587833 | FBN1 | c.3669T>A (p.Cys1223Ter) n.2343T>A c.637-10767T>A (n.637-10767T>A) | ClinVar dbSNP |
| 15 | g.48485418C>A | CA014439 | FBN1 | c.3668G>T (p.Cys1223Phe) n.2342G>T c.637-10768G>T (n.637-10768G>T) | ClinVar dbSNP |
| 15 | g.48485418C= | CA2175511842 | FBN1 | c.3668G= (p.Cys1223=) n.2342G= c.637-10768G= (n.637-10768G=) | |
| 15 | g.48485418C>G | CA392324400 | FBN1 | c.3668G>C (p.Cys1223Ser) n.2342G>C c.637-10768G>C (n.637-10768G>C) | |
| 15 | g.48485418C>T | CA014399 | FBN1 | c.3668G>A (p.Cys1223Tyr) n.2342G>A c.637-10768G>A (n.637-10768G>A) | ClinVar dbSNP |
| 15 | g.48485420_48485485del | CA2695220670 | FBN1 | c.3603_3668del (p.Ser1202_Cys1223del) n.2277_2342del c.637-10833_637-10768del (n.637-10833_637-10768del) | |
| 15 | g.48485419A>C | CA392324403 | FBN1 | c.3667T>G (p.Cys1223Gly) n.2341T>G c.637-10769T>G (n.637-10769T>G) | |
| 15 | g.48485419A>G | CA392324405 | FBN1 | c.3667T>C (p.Cys1223Arg) n.2341T>C c.637-10769T>C (n.637-10769T>C) | |
| 15 | g.48485419A>T | CA392324407 | FBN1 | c.3667T>A (p.Cys1223Ser) n.2341T>A c.637-10769T>A (n.637-10769T>A) | |
| 15 | g.48485420G>A | CA490017458 | FBN1 | c.3666C>T (p.Ser1222=) n.2340C>T c.637-10770C>T (n.637-10770C>T) | |
| 15 | g.48485420G>C | CA392324409 | FBN1 | c.3666C>G (p.Ser1222Arg) n.2340C>G c.637-10770C>G (n.637-10770C>G) | |
| 15 | g.48485420G>T | CA392324410 | FBN1 | c.3666C>A (p.Ser1222Arg) n.2340C>A c.637-10770C>A (n.637-10770C>A) | |
| 15 | g.48485421C>A | CA392324413 | FBN1 | c.3665G>T (p.Ser1222Ile) n.2339G>T c.637-10771G>T (n.637-10771G>T) | |
| 15 | g.48485421C>G | CA392324415 | FBN1 | c.3665G>C (p.Ser1222Thr) n.2339G>C c.637-10771G>C (n.637-10771G>C) | |
| 15 | g.48485421C>T | CA392324416 | FBN1 | c.3665G>A (p.Ser1222Asn) n.2339G>A c.637-10771G>A (n.637-10771G>A) | |
| 15 | g.48485422T>A | CA392324418 | FBN1 | c.3664A>T (p.Ser1222Cys) n.2338A>T c.637-10772A>T (n.637-10772A>T) | |
| 15 | g.48485422T>C | CA392324420 | FBN1 | c.3664A>G (p.Ser1222Gly) n.2338A>G c.637-10772A>G (n.637-10772A>G) | |
| 15 | g.48485422T>G | CA392324419 | FBN1 | c.3664A>C (p.Ser1222Arg) n.2338A>C c.637-10772A>C (n.637-10772A>C) | |
| 15 | g.48485423A>C | CA392324421 | FBN1 | c.3663T>G (p.Cys1221Trp) n.2337T>G c.637-10773T>G (n.637-10773T>G) | |
| 15 | g.48485423A>G | CA490017479 | FBN1 | c.3663T>C (p.Cys1221=) n.2337T>C c.637-10773T>C (n.637-10773T>C) | |
| 15 | g.48485423A>T | CA392324422 | FBN1 | c.3663T>A (p.Cys1221Ter) n.2337T>A c.637-10773T>A (n.637-10773T>A) | |
| 15 | g.48485424C>A | CA392324423 | FBN1 | c.3662G>T (p.Cys1221Phe) n.2336G>T c.637-10774G>T (n.637-10774G>T) | |
| 15 | g.48485424C= | CA2175511863 | FBN1 | c.3662G= (p.Cys1221=) n.2336G= c.637-10774G= (n.637-10774G=) | |
| 15 | g.48485424C>G | CA392324425 | FBN1 | c.3662G>C (p.Cys1221Ser) n.2336G>C c.637-10774G>C (n.637-10774G>C) | |
| 15 | g.48485424C>T | CA014391 | FBN1 | c.3662G>A (p.Cys1221Tyr) n.2336G>A c.637-10774G>A (n.637-10774G>A) | ClinVar dbSNP |
| 15 | g.48485425A>C | CA392324428 | FBN1 | c.3661T>G (p.Cys1221Gly) n.2335T>G c.637-10775T>G (n.637-10775T>G) | |
| 15 | g.48485425A>G | CA392324430 | FBN1 | c.3661T>C (p.Cys1221Arg) n.2335T>C c.637-10775T>C (n.637-10775T>C) | ClinVar dbSNP |
| 15 | g.48485425A>T | CA392324431 | FBN1 | c.3661T>A (p.Cys1221Ser) n.2335T>A c.637-10775T>A (n.637-10775T>A) | ClinVar dbSNP |
| 15 | g.48485425dup | CA2580089585 | FBN1 | c.3661dup (p.Cys1221LeufsTer2) n.2335dup c.637-10775dup (n.637-10775dup) | ClinVar |
| 15 | g.48485426T>A | CA392324433 | FBN1 | c.3660A>T (p.Glu1220Asp) n.2334A>T c.637-10776A>T (n.637-10776A>T) | |
| 15 | g.48485426T>C | CA490017496 | FBN1 | c.3660A>G (p.Glu1220=) n.2334A>G c.637-10776A>G (n.637-10776A>G) | gnomAD v4 |
| 15 | g.48485426T>G | CA392324435 | FBN1 | c.3660A>C (p.Glu1220Asp) n.2334A>C c.637-10776A>C (n.637-10776A>C) | |
| 15 | g.48485427T>A | CA392324440 | FBN1 | c.3659A>T (p.Glu1220Val) n.2333A>T c.637-10777A>T (n.637-10777A>T) | |
| 15 | g.48485427T>C | CA392324439 | FBN1 | c.3659A>G (p.Glu1220Gly) n.2333A>G c.637-10777A>G (n.637-10777A>G) | |
| 15 | g.48485427T>G | CA392324437 | FBN1 | c.3659A>C (p.Glu1220Ala) n.2333A>C c.637-10777A>C (n.637-10777A>C) | |
| 15 | g.48485428del | CA2695220671 | FBN1 | c.3658del (p.Glu1220AsnfsTer10) n.2332del c.637-10778del (n.637-10778del) | |
| 15 | g.48485428C>A | CA392324443 | FBN1 | c.3658G>T (p.Glu1220Ter) n.2332G>T c.637-10778G>T (n.637-10778G>T) | |
| 15 | g.48485428C>G | CA392324444 | FBN1 | c.3658G>C (p.Glu1220Gln) n.2332G>C c.637-10778G>C (n.637-10778G>C) | |
| 15 | g.48485428C>T | CA392324445 | FBN1 | c.3658G>A (p.Glu1220Lys) n.2332G>A c.637-10778G>A (n.637-10778G>A) | gnomAD v4 |
| 15 | g.48485429A= | CA2175511870 | FBN1 | c.3657T= (p.Tyr1219=) n.2331T= c.637-10779T= (n.637-10779T=) | |
| 15 | g.48485429A>C | CA392324447 | FBN1 | c.3657T>G (p.Tyr1219Ter) n.2331T>G c.637-10779T>G (n.637-10779T>G) | |
| 15 | g.48485429A>G | CA490017507 | FBN1 | c.3657T>C (p.Tyr1219=) n.2331T>C c.637-10779T>C (n.637-10779T>C) | |
| 15 | g.48485429A>T | CA392324448 | FBN1 | c.3657T>A (p.Tyr1219Ter) n.2331T>A c.637-10779T>A (n.637-10779T>A) | |
| 15 | g.48485430T>A | CA392324455 | FBN1 | c.3656A>T (p.Tyr1219Phe) n.2330A>T c.637-10780A>T (n.637-10780A>T) | |
| 15 | g.48485430T>C | CA392324453 | FBN1 | c.3656A>G (p.Tyr1219Cys) n.2330A>G c.637-10780A>G (n.637-10780A>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48485430T>G | CA392324451 | FBN1 | c.3656A>C (p.Tyr1219Ser) n.2330A>C c.637-10780A>C (n.637-10780A>C) | ClinVar |
| 15 | g.48485430T= | CA2175511880 | FBN1 | c.3656A= (p.Tyr1219=) n.2330A= c.637-10780A= (n.637-10780A=) | |
| 15 | g.48485430dup | CA658798370 | FBN1 | c.3656dup (p.Tyr1219Ter) n.2330dup c.637-10780dup (n.637-10780dup) | ClinVar dbSNP |
| 15 | g.48485431A>C | CA392324457 | FBN1 | c.3655T>G (p.Tyr1219Asp) n.2329T>G c.637-10781T>G (n.637-10781T>G) | |
| 15 | g.48485431A>G | CA392324458 | FBN1 | c.3655T>C (p.Tyr1219His) n.2329T>C c.637-10781T>C (n.637-10781T>C) | gnomAD v4 |
| 15 | g.48485431A>T | CA392324459 | FBN1 | c.3655T>A (p.Tyr1219Asn) n.2329T>A c.637-10781T>A (n.637-10781T>A) | |
| 15 | g.48485432G>A | CA051324 | FBN1 | c.3654C>T (p.Ser1218=) n.2328C>T c.637-10782C>T (n.637-10782C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48485432G>C | CA392324463 | FBN1 | c.3654C>G (p.Ser1218Arg) n.2328C>G c.637-10782C>G (n.637-10782C>G) | ClinVar dbSNP |
| 15 | g.48485432G= | CA2175511891 | FBN1 | c.3654C= (p.Ser1218=) n.2328C= c.637-10782C= (n.637-10782C=) | |
| 15 | g.48485432G>T | CA392324464 | FBN1 | c.3654C>A (p.Ser1218Arg) n.2328C>A c.637-10782C>A (n.637-10782C>A) | |
| 15 | g.48485433C>A | CA392324467 | FBN1 | c.3653G>T (p.Ser1218Ile) n.2327G>T c.637-10783G>T (n.637-10783G>T) | |
| 15 | g.48485433C= | CA2175511896 | FBN1 | c.3653G= (p.Ser1218=) n.2327G= c.637-10783G= (n.637-10783G=) | |
| 15 | g.48485433C>G | CA392324470 | FBN1 | c.3653G>C (p.Ser1218Thr) n.2327G>C c.637-10783G>C (n.637-10783G>C) | |
| 15 | g.48485433C>T | CA392324469 | FBN1 | c.3653G>A (p.Ser1218Asn) n.2327G>A c.637-10783G>A (n.637-10783G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48485434T>A | CA392324473 | FBN1 | c.3652A>T (p.Ser1218Cys) n.2326A>T c.637-10784A>T (n.637-10784A>T) | |
| 15 | g.48485434T>C | CA051321 | FBN1 | c.3652A>G (p.Ser1218Gly) n.2326A>G c.637-10784A>G (n.637-10784A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48485434T>G | CA392324477 | FBN1 | c.3652A>C (p.Ser1218Arg) n.2326A>C c.637-10784A>C (n.637-10784A>C) | |
| 15 | g.48485434T= | CA2175511899 | FBN1 | c.3652A= (p.Ser1218=) n.2326A= c.637-10784A= (n.637-10784A=) | |
| 15 | g.48485435G>A | CA490017541 | FBN1 | c.3651C>T (p.Gly1217=) n.2325C>T c.637-10785C>T (n.637-10785C>T) | |
| 15 | g.48485435G>C | CA490017552 | FBN1 | c.3651C>G (p.Gly1217=) n.2325C>G c.637-10785C>G (n.637-10785C>G) | |
| 15 | g.48485435G>T | CA490017544 | FBN1 | c.3651C>A (p.Gly1217=) n.2325C>A c.637-10785C>A (n.637-10785C>A) | ClinVar |
| 15 | g.48485436C>A | CA392324479 | FBN1 | c.3650G>T (p.Gly1217Val) n.2324G>T c.637-10786G>T (n.637-10786G>T) | |
| 15 | g.48485436C= | CA2175511900 | FBN1 | c.3650G= (p.Gly1217=) n.2324G= c.637-10786G= (n.637-10786G=) | |
| 15 | g.48485436C>G | CA392324481 | FBN1 | c.3650G>C (p.Gly1217Ala) n.2324G>C c.637-10786G>C (n.637-10786G>C) | |
| 15 | g.48485436C>T | CA392324483 | FBN1 | c.3650G>A (p.Gly1217Asp) n.2324G>A c.637-10786G>A (n.637-10786G>A) | ClinVar dbSNP |
| 15 | g.48485437C>A | CA392324485 | FBN1 | c.3649G>T (p.Gly1217Cys) n.2323G>T c.637-10787G>T (n.637-10787G>T) | |
| 15 | g.48485437C= | CA2175511907 | FBN1 | c.3649G= (p.Gly1217=) n.2323G= c.637-10787G= (n.637-10787G=) | |
| 15 | g.48485437C>G | CA392324487 | FBN1 | c.3649G>C (p.Gly1217Arg) n.2323G>C c.637-10787G>C (n.637-10787G>C) | |
| 15 | g.48485437C>T | CA269527199 | FBN1 | c.3649G>A (p.Gly1217Ser) n.2323G>A c.637-10787G>A (n.637-10787G>A) | dbSNP gnomAD v4 |
| 15 | g.48485438T>A | CA392324490 | FBN1 | c.3648A>T (p.Glu1216Asp) n.2322A>T c.637-10788A>T (n.637-10788A>T) | |
| 15 | g.48485438T>C | CA490017557 | FBN1 | c.3648A>G (p.Glu1216=) n.2322A>G c.637-10788A>G (n.637-10788A>G) | ClinVar dbSNP |
| 15 | g.48485438T>G | CA392324492 | FBN1 | c.3648A>C (p.Glu1216Asp) n.2322A>C c.637-10788A>C (n.637-10788A>C) | |
| 15 | g.48485438T= | CA2175511911 | FBN1 | c.3648A= (p.Glu1216=) n.2322A= c.637-10788A= (n.637-10788A=) | |
| 15 | g.48485439T>A | CA392324498 | FBN1 | c.3647A>T (p.Glu1216Val) n.2321A>T c.637-10789A>T (n.637-10789A>T) | |
| 15 | g.48485439T>C | CA392324495 | FBN1 | c.3647A>G (p.Glu1216Gly) n.2321A>G c.637-10789A>G (n.637-10789A>G) | |
| 15 | g.48485439T>G | CA392324497 | FBN1 | c.3647A>C (p.Glu1216Ala) n.2321A>C c.637-10789A>C (n.637-10789A>C) | |
| 15 | g.48485440C>A | CA392324501 | FBN1 | c.3646G>T (p.Glu1216Ter) n.2320G>T c.637-10790G>T (n.637-10790G>T) | |
| 15 | g.48485440C= | CA2175511914 | FBN1 | c.3646G= (p.Glu1216=) n.2320G= c.637-10790G= (n.637-10790G=) | |
| 15 | g.48485440C>G | CA392324504 | FBN1 | c.3646G>C (p.Glu1216Gln) n.2320G>C c.637-10790G>C (n.637-10790G>C) | |
| 15 | g.48485440C>T | CA392324503 | FBN1 | c.3646G>A (p.Glu1216Lys) n.2320G>A c.637-10790G>A (n.637-10790G>A) | dbSNP |
| 15 | g.48485441A>C | CA490017565 | FBN1 | c.3645T>G (p.Ser1215=) n.2319T>G c.637-10791T>G (n.637-10791T>G) | |
| 15 | g.48485441A>G | CA490017566 | FBN1 | c.3645T>C (p.Ser1215=) n.2319T>C c.637-10791T>C (n.637-10791T>C) | |
| 15 | g.48485441A>T | CA490017568 | FBN1 | c.3645T>A (p.Ser1215=) n.2319T>A c.637-10791T>A (n.637-10791T>A) | gnomAD v4 |
| 15 | g.48485443_48485444del | CA2580612803 | FBN1 | c.3644_3645del (p.Ser1215Ter) n.2318_2319del c.637-10792_637-10791del (n.637-10792_637-10791del) | ClinVar |
| 15 | g.48485442G>A | CA392324505 | FBN1 | c.3644C>T (p.Ser1215Phe) n.2318C>T c.637-10792C>T (n.637-10792C>T) | ClinVar |
| 15 | g.48485442G>C | CA392324506 | FBN1 | c.3644C>G (p.Ser1215Cys) n.2318C>G c.637-10792C>G (n.637-10792C>G) | COSMIC |
| 15 | g.48485442G>T | CA392324507 | FBN1 | c.3644C>A (p.Ser1215Tyr) n.2318C>A c.637-10792C>A (n.637-10792C>A) | |
| 15 | g.48485443A>C | CA392324508 | FBN1 | c.3643T>G (p.Ser1215Ala) n.2317T>G c.637-10793T>G (n.637-10793T>G) | |
| 15 | g.48485443A>G | CA392324510 | FBN1 | c.3643T>C (p.Ser1215Pro) n.2317T>C c.637-10793T>C (n.637-10793T>C) | ClinVar |
| 15 | g.48485443A>T | CA392324511 | FBN1 | c.3643T>A (p.Ser1215Thr) n.2317T>A c.637-10793T>A (n.637-10793T>A) | |
| 15 | g.48485444G>A | CA490017576 | FBN1 | c.3642C>T (p.Asn1214=) n.2316C>T c.637-10794C>T (n.637-10794C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48485444G>C | CA392324515 | FBN1 | c.3642C>G (p.Asn1214Lys) n.2316C>G c.637-10794C>G (n.637-10794C>G) | |
| 15 | g.48485444G= | CA2175511918 | FBN1 | c.3642C= (p.Asn1214=) n.2316C= c.637-10794C= (n.637-10794C=) | |
| 15 | g.48485444G>T | CA392324513 | FBN1 | c.3642C>A (p.Asn1214Lys) n.2316C>A c.637-10794C>A (n.637-10794C>A) | |
| 15 | g.48485445T>A | CA392324517 | FBN1 | c.3641A>T (p.Asn1214Ile) n.2315A>T c.637-10795A>T (n.637-10795A>T) | |
| 15 | g.48485445T>C | CA392324519 | FBN1 | c.3641A>G (p.Asn1214Ser) n.2315A>G c.637-10795A>G (n.637-10795A>G) | ClinVar dbSNP |
| 15 | g.48485445T>G | CA392324520 | FBN1 | c.3641A>C (p.Asn1214Thr) n.2315A>C c.637-10795A>C (n.637-10795A>C) | |
| 15 | g.48485445T= | CA2175511921 | FBN1 | c.3641A= (p.Asn1214=) n.2315A= c.637-10795A= (n.637-10795A=) | |
| 15 | g.48485446_48485447del | CA2573150807 | FBN1 | c.3640_3641del (p.Asn1214LeufsTer2) n.2314_2315del c.637-10796_637-10795del (n.637-10796_637-10795del) | ClinVar dbSNP |
| 15 | g.48485446T>A | CA392324523 | FBN1 | c.3640A>T (p.Asn1214Tyr) n.2314A>T c.637-10796A>T (n.637-10796A>T) | |
| 15 | g.48485446T>C | CA392324525 | FBN1 | c.3640A>G (p.Asn1214Asp) n.2314A>G c.637-10796A>G (n.637-10796A>G) | |
| 15 | g.48485446T>G | CA392324527 | FBN1 | c.3640A>C (p.Asn1214His) n.2314A>C c.637-10796A>C (n.637-10796A>C) | |
| 15 | g.48485447T>A | CA490017590 | FBN1 | c.3639A>T (p.Thr1213=) n.2313A>T c.637-10797A>T (n.637-10797A>T) | |
| 15 | g.48485447T>C | CA490017592 | FBN1 | c.3639A>G (p.Thr1213=) n.2313A>G c.637-10797A>G (n.637-10797A>G) | ClinVar gnomAD v4 |
| 15 | g.48485447T>G | CA490017599 | FBN1 | c.3639A>C (p.Thr1213=) n.2313A>C c.637-10797A>C (n.637-10797A>C) | |
| 15 | g.48485448G>A | CA392324529 | FBN1 | c.3638C>T (p.Thr1213Ile) n.2312C>T c.637-10798C>T (n.637-10798C>T) | |
| 15 | g.48485448G>C | CA392324532 | FBN1 | c.3638C>G (p.Thr1213Arg) n.2312C>G c.637-10798C>G (n.637-10798C>G) | |
| 15 | g.48485448G>T | CA392324530 | FBN1 | c.3638C>A (p.Thr1213Lys) n.2312C>A c.637-10798C>A (n.637-10798C>A) | |
| 15 | g.48485449T>A | CA392324534 | FBN1 | c.3637A>T (p.Thr1213Ser) n.2311A>T c.637-10799A>T (n.637-10799A>T) | |
| 15 | g.48485449T>C | CA392324536 | FBN1 | c.3637A>G (p.Thr1213Ala) n.2311A>G c.637-10799A>G (n.637-10799A>G) | |
| 15 | g.48485449T>G | CA392324538 | FBN1 | c.3637A>C (p.Thr1213Pro) n.2311A>C c.637-10799A>C (n.637-10799A>C) | |
| 15 | g.48485450G>A | CA490017605 | FBN1 | c.3636C>T (p.Cys1212=) n.2310C>T c.637-10800C>T (n.637-10800C>T) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48485450G>C | CA392324540 | FBN1 | c.3636C>G (p.Cys1212Trp) n.2310C>G c.637-10800C>G (n.637-10800C>G) | |
| 15 | g.48485450G= | CA2175511925 | FBN1 | c.3636C= (p.Cys1212=) n.2310C= c.637-10800C= (n.637-10800C=) | |
| 15 | g.48485450G>T | CA392324541 | FBN1 | c.3636C>A (p.Cys1212Ter) n.2310C>A c.637-10800C>A (n.637-10800C>A) | |
| 15 | g.48485451C>A | CA392324544 | FBN1 | c.3635G>T (p.Cys1212Phe) n.2309G>T c.637-10801G>T (n.637-10801G>T) | |
| 15 | g.48485451C= | CA2175511932 | FBN1 | c.3635G= (p.Cys1212=) n.2309G= c.637-10801G= (n.637-10801G=) | |
| 15 | g.48485451C>G | CA16606967 | FBN1 | c.3635G>C (p.Cys1212Ser) n.2309G>C c.637-10801G>C (n.637-10801G>C) | ClinVar dbSNP |
| 15 | g.48485451C>T | CA392324546 | FBN1 | c.3635G>A (p.Cys1212Tyr) n.2309G>A c.637-10801G>A (n.637-10801G>A) | ClinVar dbSNP |
| 15 | g.48485451_48485454delinsCAGA | CA2175511934 | FBN1 | c.3632_3635delinsTCTG (p.Phe1211=) n.2306_2309delinsTCTG c.637-10804_637-10801delinsTCTG (n.637-10804_637-10801delinsTCTG) | |
| 15 | g.48485452A= | CA2175511943 | FBN1 | c.3634T= (p.Cys1212=) n.2308T= c.637-10802T= (n.637-10802T=) | |
| 15 | g.48485452A>C | CA392324549 | FBN1 | c.3634T>G (p.Cys1212Gly) n.2308T>G c.637-10802T>G (n.637-10802T>G) | |
| 15 | g.48485452A>G | CA392324550 | FBN1 | c.3634T>C (p.Cys1212Arg) n.2308T>C c.637-10802T>C (n.637-10802T>C) | ClinVar dbSNP |
| 15 | g.48485452A>T | CA392324552 | FBN1 | c.3634T>A (p.Cys1212Ser) n.2308T>A c.637-10802T>A (n.637-10802T>A) | |
| 15 | g.48485454_48485456del | CA658824437 | FBN1 | c.3632_3634del (p.Phe1211del) n.2306_2308del c.637-10804_637-10802del (n.637-10804_637-10802del) | ClinVar dbSNP |
| 15 | g.48485453G>A | CA490017613 | FBN1 | c.3633C>T (p.Phe1211=) n.2307C>T c.637-10803C>T (n.637-10803C>T) | gnomAD v4 |
| 15 | g.48485453G>C | CA392324554 | FBN1 | c.3633C>G (p.Phe1211Leu) n.2307C>G c.637-10803C>G (n.637-10803C>G) | |
| 15 | g.48485453G= | CA2175511948 | FBN1 | c.3633C= (p.Phe1211=) n.2307C= c.637-10803C= (n.637-10803C=) | |
| 15 | g.48485453G>T | CA392324556 | FBN1 | c.3633C>A (p.Phe1211Leu) n.2307C>A c.637-10803C>A (n.637-10803C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48485454A>C | CA392324558 | FBN1 | c.3632T>G (p.Phe1211Cys) n.2306T>G c.637-10804T>G (n.637-10804T>G) | |
| 15 | g.48485454A>G | CA392324562 | FBN1 | c.3632T>C (p.Phe1211Ser) n.2306T>C c.637-10804T>C (n.637-10804T>C) | ClinVar gnomAD v4 |
| 15 | g.48485454A>T | CA392324560 | FBN1 | c.3632T>A (p.Phe1211Tyr) n.2306T>A c.637-10804T>A (n.637-10804T>A) | |
| 15 | g.48485455A>C | CA392324564 | FBN1 | c.3631T>G (p.Phe1211Val) n.2305T>G c.637-10805T>G (n.637-10805T>G) | |
| 15 | g.48485455A>G | CA392324565 | FBN1 | c.3631T>C (p.Phe1211Leu) n.2305T>C c.637-10805T>C (n.637-10805T>C) | |
| 15 | g.48485455A>T | CA392324567 | FBN1 | c.3631T>A (p.Phe1211Ile) n.2305T>A c.637-10805T>A (n.637-10805T>A) | |
| 15 | g.48485456G>A | CA490017629 | FBN1 | c.3630C>T (p.Thr1210=) n.2304C>T c.637-10806C>T (n.637-10806C>T) | dbSNP |
| 15 | g.48485456G>C | CA490017626 | FBN1 | c.3630C>G (p.Thr1210=) n.2304C>G c.637-10806C>G (n.637-10806C>G) | |
| 15 | g.48485456G>T | CA490017625 | FBN1 | c.3630C>A (p.Thr1210=) n.2304C>A c.637-10806C>A (n.637-10806C>A) | |
| 15 | g.48485457del | CA2695220672 | FBN1 | c.3630del (p.Phe1211SerfsTer19) n.2304del c.637-10806del (n.637-10806del) | |
| 15 | g.48485457G>A | CA392324569 | FBN1 | c.3629C>T (p.Thr1210Ile) n.2303C>T c.637-10807C>T (n.637-10807C>T) | gnomAD v4 |
| 15 | g.48485457G>C | CA392324571 | FBN1 | c.3629C>G (p.Thr1210Ser) n.2303C>G c.637-10807C>G (n.637-10807C>G) | |
| 15 | g.48485457G>T | CA392324573 | FBN1 | c.3629C>A (p.Thr1210Asn) n.2303C>A c.637-10807C>A (n.637-10807C>A) | |
| 15 | g.48485458T>A | CA392324574 | FBN1 | c.3628A>T (p.Thr1210Ser) n.2302A>T c.637-10808A>T (n.637-10808A>T) | |
| 15 | g.48485458T>C | CA392324576 | FBN1 | c.3628A>G (p.Thr1210Ala) n.2302A>G c.637-10808A>G (n.637-10808A>G) | dbSNP |
| 15 | g.48485458T>G | CA392324578 | FBN1 | c.3628A>C (p.Thr1210Pro) n.2302A>C c.637-10808A>C (n.637-10808A>C) | gnomAD v4 |
| 15 | g.48485458T= | CA2175511952 | FBN1 | c.3628A= (p.Thr1210=) n.2302A= c.637-10808A= (n.637-10808A=) | |
| 15 | g.48485459T>A | CA392324579 | FBN1 | c.3627A>T (p.Glu1209Asp) n.2301A>T c.637-10809A>T (n.637-10809A>T) | |
| 15 | g.48485459T>C | CA490017636 | FBN1 | c.3627A>G (p.Glu1209=) n.2301A>G c.637-10809A>G (n.637-10809A>G) | |
| 15 | g.48485459T>G | CA392324581 | FBN1 | c.3627A>C (p.Glu1209Asp) n.2301A>C c.637-10809A>C (n.637-10809A>C) | |
| 15 | g.48485459_48485461dup | CA2740096709 | FBN1 | c.3625_3627dup (p.Glu1209_Thr1210insGlu) n.2299_2301dup c.637-10811_637-10809dup (n.637-10811_637-10809dup) | ClinVar |
| 15 | g.48485460T>A | CA392324587 | FBN1 | c.3626A>T (p.Glu1209Val) n.2300A>T c.637-10810A>T (n.637-10810A>T) | ClinVar dbSNP |
| 15 | g.48485460T>C | CA392324585 | FBN1 | c.3626A>G (p.Glu1209Gly) n.2300A>G c.637-10810A>G (n.637-10810A>G) | |
| 15 | g.48485460T>G | CA392324584 | FBN1 | c.3626A>C (p.Glu1209Ala) n.2300A>C c.637-10810A>C (n.637-10810A>C) | |
| 15 | g.48485460T= | CA2175511957 | FBN1 | c.3626A= (p.Glu1209=) n.2300A= c.637-10810A= (n.637-10810A=) | |
| 15 | g.48485461C>A | CA392324590 | FBN1 | c.3625G>T (p.Glu1209Ter) n.2299G>T c.637-10811G>T (n.637-10811G>T) | |
| 15 | g.48485461C>G | CA392324591 | FBN1 | c.3625G>C (p.Glu1209Gln) n.2299G>C c.637-10811G>C (n.637-10811G>C) | |
| 15 | g.48485461C>T | CA392324593 | FBN1 | c.3625G>A (p.Glu1209Lys) n.2299G>A c.637-10811G>A (n.637-10811G>A) | |
| 15 | g.48485462A= | CA2175511963 | FBN1 | c.3624T= (p.Cys1208=) n.2298T= c.637-10812T= (n.637-10812T=) | |
| 15 | g.48485462A>C | CA392324596 | FBN1 | c.3624T>G (p.Cys1208Trp) n.2298T>G c.637-10812T>G (n.637-10812T>G) | ClinVar |
| 15 | g.48485462A>G | CA269527202 | FBN1 | c.3624T>C (p.Cys1208=) n.2298T>C c.637-10812T>C (n.637-10812T>C) | dbSNP |
| 15 | g.48485462A>T | CA392324599 | FBN1 | c.3624T>A (p.Cys1208Ter) n.2298T>A c.637-10812T>A (n.637-10812T>A) | ClinVar dbSNP |
| 15 | g.48485462_48485463delinsAC | CA2175511966 | FBN1 | c.3623_3624delinsGT (p.Cys1208=) n.2297_2298delinsGT c.637-10813_637-10812delinsGT (n.637-10813_637-10812delinsGT) | |
| 15 | g.48485463del | CA658824438 | FBN1 | c.3623del (p.Cys1208LeufsTer22) n.2297del c.637-10813del (n.637-10813del) | ClinVar dbSNP |
| 15 | g.48485463C>A | CA392324601 | FBN1 | c.3623G>T (p.Cys1208Phe) n.2297G>T c.637-10813G>T (n.637-10813G>T) | ClinVar dbSNP |
| 15 | g.48485463C= | CA2175511970 | FBN1 | c.3623G= (p.Cys1208=) n.2297G= c.637-10813G= (n.637-10813G=) | |
| 15 | g.48485463C>G | CA392324602 | FBN1 | c.3623G>C (p.Cys1208Ser) n.2297G>C c.637-10813G>C (n.637-10813G>C) | |
| 15 | g.48485463C>T | CA392324604 | FBN1 | c.3623G>A (p.Cys1208Tyr) n.2297G>A c.637-10813G>A (n.637-10813G>A) | |
| 15 | g.48485464A= | CA2175511973 | FBN1 | c.3622T= (p.Cys1208=) n.2296T= c.637-10814T= (n.637-10814T=) | |
| 15 | g.48485464A>C | CA392324606 | FBN1 | c.3622T>G (p.Cys1208Gly) n.2296T>G c.637-10814T>G (n.637-10814T>G) | |
| 15 | g.48485464A>G | CA392324607 | FBN1 | c.3622T>C (p.Cys1208Arg) n.2296T>C c.637-10814T>C (n.637-10814T>C) | |
| 15 | g.48485464A>T | CA269527203 | FBN1 | c.3622T>A (p.Cys1208Ser) n.2296T>A c.637-10814T>A (n.637-10814T>A) | dbSNP |
| 15 | g.48485465del | CA2695220673 | FBN1 | c.3622del (p.Cys1208ValfsTer22) n.2296del c.637-10814del (n.637-10814del) | |
| 15 | g.48485465A>C | CA490017653 | FBN1 | c.3621T>G (p.Gly1207=) n.2295T>G c.637-10815T>G (n.637-10815T>G) | |
| 15 | g.48485465A>G | CA490017654 | FBN1 | c.3621T>C (p.Gly1207=) n.2295T>C c.637-10815T>C (n.637-10815T>C) | |
| 15 | g.48485465A>T | CA490017655 | FBN1 | c.3621T>A (p.Gly1207=) n.2295T>A c.637-10815T>A (n.637-10815T>A) | |
| 15 | g.48485466C>A | CA392324613 | FBN1 | c.3620G>T (p.Gly1207Val) n.2294G>T c.637-10816G>T (n.637-10816G>T) | |
| 15 | g.48485466C>G | CA392324609 | FBN1 | c.3620G>C (p.Gly1207Ala) n.2294G>C c.637-10816G>C (n.637-10816G>C) | |
| 15 | g.48485466C>T | CA392324611 | FBN1 | c.3620G>A (p.Gly1207Asp) n.2294G>A c.637-10816G>A (n.637-10816G>A) | |
| 15 | g.48485467C>A | CA392324615 | FBN1 | c.3619G>T (p.Gly1207Cys) n.2293G>T c.637-10817G>T (n.637-10817G>T) | |
| 15 | g.48485467C>G | CA392324616 | FBN1 | c.3619G>C (p.Gly1207Arg) n.2293G>C c.637-10817G>C (n.637-10817G>C) | |
| 15 | g.48485467C>T | CA392324618 | FBN1 | c.3619G>A (p.Gly1207Ser) n.2293G>A c.637-10817G>A (n.637-10817G>A) | |
| 15 | g.48485468A>C | CA490017668 | FBN1 | c.3618T>G (p.Gly1206=) n.2292T>G c.637-10818T>G (n.637-10818T>G) | |
| 15 | g.48485468A>G | CA490017669 | FBN1 | c.3618T>C (p.Gly1206=) n.2292T>C c.637-10818T>C (n.637-10818T>C) | |
| 15 | g.48485468A>T | CA490017670 | FBN1 | c.3618T>A (p.Gly1206=) n.2292T>A c.637-10818T>A (n.637-10818T>A) | |
| 15 | g.48485469C>A | CA392324620 | FBN1 | c.3617G>T (p.Gly1206Val) n.2291G>T c.637-10819G>T (n.637-10819G>T) | ClinVar |
| 15 | g.48485469C= | CA2175511977 | FBN1 | c.3617G= (p.Gly1206=) n.2291G= c.637-10819G= (n.637-10819G=) | |
| 15 | g.48485469C>G | CA392324621 | FBN1 | c.3617G>C (p.Gly1206Ala) n.2291G>C c.637-10819G>C (n.637-10819G>C) | |
| 15 | g.48485469C>T | CA392324623 | FBN1 | c.3617G>A (p.Gly1206Asp) n.2291G>A c.637-10819G>A (n.637-10819G>A) | ClinVar dbSNP |
| 15 | g.48485470C>A | CA392324629 | FBN1 | c.3616G>T (p.Gly1206Cys) n.2290G>T c.637-10820G>T (n.637-10820G>T) | ClinVar dbSNP |
| 15 | g.48485470C= | CA2175511985 | FBN1 | c.3616G= (p.Gly1206=) n.2290G= c.637-10820G= (n.637-10820G=) | |
| 15 | g.48485470C>G | CA392324626 | FBN1 | c.3616G>C (p.Gly1206Arg) n.2290G>C c.637-10820G>C (n.637-10820G>C) | ClinVar dbSNP |
| 15 | g.48485470C>T | CA392324627 | FBN1 | c.3616G>A (p.Gly1206Ser) n.2290G>A c.637-10820G>A (n.637-10820G>A) | ClinVar |
| 15 | g.48485474_48485477del | CA2580612805 | FBN1 | c.3613_3616del (p.Asn1205ValfsTer24) n.2287_2290del c.637-10823_637-10820del (n.637-10823_637-10820del) | ClinVar dbSNP |
| 15 | g.48485471A= | CA2175511991 | FBN1 | c.3615T= (p.Asn1205=) n.2289T= c.637-10821T= (n.637-10821T=) | |
| 15 | g.48485471A>C | CA392324631 | FBN1 | c.3615T>G (p.Asn1205Lys) n.2289T>G c.637-10821T>G (n.637-10821T>G) | |
| 15 | g.48485471A>G | CA490017675 | FBN1 | c.3615T>C (p.Asn1205=) n.2289T>C c.637-10821T>C (n.637-10821T>C) | dbSNP |
| 15 | g.48485471A>T | CA392324632 | FBN1 | c.3615T>A (p.Asn1205Lys) n.2289T>A c.637-10821T>A (n.637-10821T>A) | |
| 15 | g.48485472T>A | CA392324634 | FBN1 | c.3614A>T (p.Asn1205Ile) n.2288A>T c.637-10822A>T (n.637-10822A>T) | |
| 15 | g.48485472T>C | CA014371 | FBN1 | c.3614A>G (p.Asn1205Ser) n.2288A>G c.637-10822A>G (n.637-10822A>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48485472T>G | CA392324636 | FBN1 | c.3614A>C (p.Asn1205Thr) n.2288A>C c.637-10822A>C (n.637-10822A>C) | |
| 15 | g.48485472T= | CA2175511998 | FBN1 | c.3614A= (p.Asn1205=) n.2288A= c.637-10822A= (n.637-10822A=) | |
| 15 | g.48485473T>A | CA392324641 | FBN1 | c.3613A>T (p.Asn1205Tyr) n.2287A>T c.637-10823A>T (n.637-10823A>T) | |
| 15 | g.48485473T>C | CA392324638 | FBN1 | c.3613A>G (p.Asn1205Asp) n.2287A>G c.637-10823A>G (n.637-10823A>G) | |
| 15 | g.48485473T>G | CA392324640 | FBN1 | c.3613A>C (p.Asn1205His) n.2287A>C c.637-10823A>C (n.637-10823A>C) | |
| 15 | g.48485474C>A | CA392324644 | FBN1 | c.3612G>T (p.Met1204Ile) n.2286G>T c.637-10824G>T (n.637-10824G>T) | |
| 15 | g.48485474C>G | CA392324646 | FBN1 | c.3612G>C (p.Met1204Ile) n.2286G>C c.637-10824G>C (n.637-10824G>C) | |
| 15 | g.48485474C>T | CA392324648 | FBN1 | c.3612G>A (p.Met1204Ile) n.2286G>A c.637-10824G>A (n.637-10824G>A) | |
| 15 | g.48485475A>C | CA392324650 | FBN1 | c.3611T>G (p.Met1204Arg) n.2285T>G c.637-10825T>G (n.637-10825T>G) | |
| 15 | g.48485475A>G | CA392324652 | FBN1 | c.3611T>C (p.Met1204Thr) n.2285T>C c.637-10825T>C (n.637-10825T>C) | |
| 15 | g.48485475A>T | CA392324654 | FBN1 | c.3611T>A (p.Met1204Lys) n.2285T>A c.637-10825T>A (n.637-10825T>A) | |
| 15 | g.48485476T>A | CA392324655 | FBN1 | c.3610A>T (p.Met1204Leu) n.2284A>T c.637-10826A>T (n.637-10826A>T) | |
| 15 | g.48485476T>C | CA269527212 | FBN1 | c.3610A>G (p.Met1204Val) n.2284A>G c.637-10826A>G (n.637-10826A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48485476T>G | CA392324657 | FBN1 | c.3610A>C (p.Met1204Leu) n.2284A>C c.637-10826A>C (n.637-10826A>C) | |
| 15 | g.48485476T= | CA2175512006 | FBN1 | c.3610A= (p.Met1204=) n.2284A= c.637-10826A= (n.637-10826A=) | |
| 15 | g.48485477T>A | CA490017686 | FBN1 | c.3609A>T (p.Ile1203=) n.2283A>T c.637-10827A>T (n.637-10827A>T) | |
| 15 | g.48485477T>C | CA392324659 | FBN1 | c.3609A>G (p.Ile1203Met) n.2283A>G c.637-10827A>G (n.637-10827A>G) | ClinVar |
| 15 | g.48485477T>G | CA490017687 | FBN1 | c.3609A>C (p.Ile1203=) n.2283A>C c.637-10827A>C (n.637-10827A>C) | |
| 15 | g.48485477T= | CA2175512009 | FBN1 | c.3609A= (p.Ile1203=) n.2283A= c.637-10827A= (n.637-10827A=) | |
| 15 | g.48485478A>C | CA392324661 | FBN1 | c.3608T>G (p.Ile1203Arg) n.2282T>G c.637-10828T>G (n.637-10828T>G) | |
| 15 | g.48485478A>G | CA392324662 | FBN1 | c.3608T>C (p.Ile1203Thr) n.2282T>C c.637-10828T>C (n.637-10828T>C) | |
| 15 | g.48485478A>T | CA392324664 | FBN1 | c.3608T>A (p.Ile1203Lys) n.2282T>A c.637-10828T>A (n.637-10828T>A) | |
| 15 | g.48485479_48485492dup | CA891843839 | FBN1 | c.3595_3608dup (p.Ile1203MetfsTer6) n.2269_2282dup c.637-10841_637-10828dup (n.637-10841_637-10828dup) | ClinVar dbSNP |
| 15 | g.48485479T>A | CA392324666 | FBN1 | c.3607A>T (p.Ile1203Leu) n.2281A>T c.637-10829A>T (n.637-10829A>T) | |
| 15 | g.48485479T>C | CA392324669 | FBN1 | c.3607A>G (p.Ile1203Val) n.2281A>G c.637-10829A>G (n.637-10829A>G) | dbSNP |
| 15 | g.48485479T>G | CA392324668 | FBN1 | c.3607A>C (p.Ile1203Leu) n.2281A>C c.637-10829A>C (n.637-10829A>C) | ClinVar |
| 15 | g.48485479T= | CA2175512018 | FBN1 | c.3607A= (p.Ile1203=) n.2281A= c.637-10829A= (n.637-10829A=) | |
| 15 | g.48485480G>A | CA051313 | FBN1 | c.3606C>T (p.Ser1202=) n.2280C>T c.637-10830C>T (n.637-10830C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48485480G>C | CA392324677 | FBN1 | c.3606C>G (p.Ser1202Arg) n.2280C>G c.637-10830C>G (n.637-10830C>G) | |
| 15 | g.48485480G= | CA2175512021 | FBN1 | c.3606C= (p.Ser1202=) n.2280C= c.637-10830C= (n.637-10830C=) | |
| 15 | g.48485480G>T | CA392324679 | FBN1 | c.3606C>A (p.Ser1202Arg) n.2280C>A c.637-10830C>A (n.637-10830C>A) | |
| 15 | g.48485480_48485481delinsAA | CA913188649 | FBN1 | c.3605_3606delinsTT (p.Ser1202Ile) n.2279_2280delinsTT c.637-10831_637-10830delinsTT (n.637-10831_637-10830delinsTT) | ClinVar dbSNP |
| 15 | g.48485480_48485481delinsGC | CA2175512025 | FBN1 | c.3605_3606delinsGC (p.Ser1202=) n.2279_2280delinsGC c.637-10831_637-10830delinsGC (n.637-10831_637-10830delinsGC) | |
| 15 | g.48485481C>A | CA051311 | FBN1 | c.3605G>T (p.Ser1202Ile) n.2279G>T c.637-10831G>T (n.637-10831G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48485481C= | CA2175512033 | FBN1 | c.3605G= (p.Ser1202=) n.2279G= c.637-10831G= (n.637-10831G=) | |
| 15 | g.48485481C>G | CA392324684 | FBN1 | c.3605G>C (p.Ser1202Thr) n.2279G>C c.637-10831G>C (n.637-10831G>C) | |
| 15 | g.48485481C>T | CA051304 | FBN1 | c.3605G>A (p.Ser1202Asn) n.2279G>A c.637-10831G>A (n.637-10831G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48485482T>A | CA392324690 | FBN1 | c.3604A>T (p.Ser1202Cys) n.2278A>T c.637-10832A>T (n.637-10832A>T) | |
| 15 | g.48485482T>C | CA051300 | FBN1 | c.3604A>G (p.Ser1202Gly) n.2278A>G c.637-10832A>G (n.637-10832A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48485482T>G | CA392324688 | FBN1 | c.3604A>C (p.Ser1202Arg) n.2278A>C c.637-10832A>C (n.637-10832A>C) | |
| 15 | g.48485482T= | CA2175512037 | FBN1 | c.3604A= (p.Ser1202=) n.2278A= c.637-10832A= (n.637-10832A=) | |
| 15 | g.48485483G>A | CA490017692 | FBN1 | c.3603C>T (p.Cys1201=) n.2277C>T c.637-10833C>T (n.637-10833C>T) | COSMIC |
| 15 | g.48485483G>C | CA392324691 | FBN1 | c.3603C>G (p.Cys1201Trp) n.2277C>G c.637-10833C>G (n.637-10833C>G) | |
| 15 | g.48485483G>T | CA392324693 | FBN1 | c.3603C>A (p.Cys1201Ter) n.2277C>A c.637-10833C>A (n.637-10833C>A) | ClinVar |
| 15 | g.48485484C>A | CA392324694 | FBN1 | c.3602G>T (p.Cys1201Phe) n.2276G>T c.637-10834G>T (n.637-10834G>T) | |
| 15 | g.48485484C= | CA2175512042 | FBN1 | c.3602G= (p.Cys1201=) n.2276G= c.637-10834G= (n.637-10834G=) | |
| 15 | g.48485484C>G | CA392324695 | FBN1 | c.3602G>C (p.Cys1201Ser) n.2276G>C c.637-10834G>C (n.637-10834G>C) | COSMIC |
| 15 | g.48485484C>T | CA392324696 | FBN1 | c.3602G>A (p.Cys1201Tyr) n.2276G>A c.637-10834G>A (n.637-10834G>A) | ClinVar dbSNP |
| 15 | g.48485485A>C | CA392324699 | FBN1 | c.3601T>G (p.Cys1201Gly) n.2275T>G c.637-10835T>G (n.637-10835T>G) | |
| 15 | g.48485485A>G | CA392324703 | FBN1 | c.3601T>C (p.Cys1201Arg) n.2275T>C c.637-10835T>C (n.637-10835T>C) | |
| 15 | g.48485485A>T | CA392324701 | FBN1 | c.3601T>A (p.Cys1201Ser) n.2275T>A c.637-10835T>A (n.637-10835T>A) | |
| 15 | g.48485486T>A | CA392324704 | FBN1 | c.3600A>T (p.Glu1200Asp) n.2274A>T c.637-10836A>T (n.637-10836A>T) | |
| 15 | g.48485486T>C | CA490017696 | FBN1 | c.3600A>G (p.Glu1200=) n.2274A>G c.637-10836A>G (n.637-10836A>G) | ClinVar gnomAD v4 |
| 15 | g.48485486T>G | CA392324706 | FBN1 | c.3600A>C (p.Glu1200Asp) n.2274A>C c.637-10836A>C (n.637-10836A>C) | |
| 15 | g.48485487T>A | CA392324709 | FBN1 | c.3599A>T (p.Glu1200Val) n.2273A>T c.637-10837A>T (n.637-10837A>T) | ClinVar dbSNP |
| 15 | g.48485487T>C | CA392324710 | FBN1 | c.3599A>G (p.Glu1200Gly) n.2273A>G c.637-10837A>G (n.637-10837A>G) | |
| 15 | g.48485487T>G | CA392324712 | FBN1 | c.3599A>C (p.Glu1200Ala) n.2273A>C c.637-10837A>C (n.637-10837A>C) | |
| 15 | g.48485487T= | CA2175512047 | FBN1 | c.3599A= (p.Glu1200=) n.2273A= c.637-10837A= (n.637-10837A=) | |
| 15 | g.48485488C>A | CA392324715 | FBN1 | c.3598G>T (p.Glu1200Ter) n.2272G>T c.637-10838G>T (n.637-10838G>T) | |
| 15 | g.48485488C>G | CA392324716 | FBN1 | c.3598G>C (p.Glu1200Gln) n.2272G>C c.637-10838G>C (n.637-10838G>C) | |
| 15 | g.48485488C>T | CA392324717 | FBN1 | c.3598G>A (p.Glu1200Lys) n.2272G>A c.637-10838G>A (n.637-10838G>A) | ClinVar |
| 15 | g.48485489A>C | CA392324718 | FBN1 | c.3597T>G (p.Asp1199Glu) n.2271T>G c.637-10839T>G (n.637-10839T>G) | |
| 15 | g.48485489A>G | CA490017698 | FBN1 | c.3597T>C (p.Asp1199=) n.2271T>C c.637-10839T>C (n.637-10839T>C) | |
| 15 | g.48485489A>T | CA392324720 | FBN1 | c.3597T>A (p.Asp1199Glu) n.2271T>A c.637-10839T>A (n.637-10839T>A) | |
| 15 | g.48485490T>A | CA392324722 | FBN1 | c.3596A>T (p.Asp1199Val) n.2270A>T c.637-10840A>T (n.637-10840A>T) | |
| 15 | g.48485490T>C | CA014349 | FBN1 | c.3596A>G (p.Asp1199Gly) n.2270A>G c.637-10840A>G (n.637-10840A>G) | ClinVar dbSNP |
| 15 | g.48485490T>G | CA392324724 | FBN1 | c.3596A>C (p.Asp1199Ala) n.2270A>C c.637-10840A>C (n.637-10840A>C) | |
| 15 | g.48485490T= | CA2175512053 | FBN1 | c.3596A= (p.Asp1199=) n.2270A= c.637-10840A= (n.637-10840A=) | |
| 15 | g.48485490_48485491delinsTC | CA2175512056 | FBN1 | c.3595_3596delinsGA (p.Asp1199=) n.2269_2270delinsGA c.637-10841_637-10840delinsGA (n.637-10841_637-10840delinsGA) | |
| 15 | g.48485491del | CA617835716 | FBN1 | c.3595del (p.Asp1199MetfsTer5) n.2269del c.637-10841del (n.637-10841del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48485491C>A | CA392324727 | FBN1 | c.3595G>T (p.Asp1199Tyr) n.2269G>T c.637-10841G>T (n.637-10841G>T) | |
| 15 | g.48485491C>G | CA392324731 | FBN1 | c.3595G>C (p.Asp1199His) n.2269G>C c.637-10841G>C (n.637-10841G>C) | |
| 15 | g.48485491C>T | CA392324729 | FBN1 | c.3595G>A (p.Asp1199Asn) n.2269G>A c.637-10841G>A (n.637-10841G>A) | |
| 15 | g.48485492A= | CA2175512066 | FBN1 | c.3594T= (p.Ile1198=) n.2268T= c.637-10842T= (n.637-10842T=) | |
| 15 | g.48485492A>C | CA392324733 | FBN1 | c.3594T>G (p.Ile1198Met) n.2268T>G c.637-10842T>G (n.637-10842T>G) | |
| 15 | g.48485492A>G | CA490017701 | FBN1 | c.3594T>C (p.Ile1198=) n.2268T>C c.637-10842T>C (n.637-10842T>C) | dbSNP gnomAD v4 |
| 15 | g.48485492A>T | CA490017702 | FBN1 | c.3594T>A (p.Ile1198=) n.2268T>A c.637-10842T>A (n.637-10842T>A) | |
| 15 | g.48485493A= | CA2175512074 | FBN1 | c.3593T= (p.Ile1198=) n.2267T= c.637-10843T= (n.637-10843T=) | |
| 15 | g.48485493A>C | CA392324736 | FBN1 | c.3593T>G (p.Ile1198Ser) n.2267T>G c.637-10843T>G (n.637-10843T>G) | |
| 15 | g.48485493A>G | CA051261 | FBN1 | c.3593T>C (p.Ile1198Thr) n.2267T>C c.637-10843T>C (n.637-10843T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48485493A>T | CA392324737 | FBN1 | c.3593T>A (p.Ile1198Asn) n.2267T>A c.637-10843T>A (n.637-10843T>A) | |
| 15 | g.48485494T>A | CA392324739 | FBN1 | c.3592A>T (p.Ile1198Phe) n.2266A>T c.637-10844A>T (n.637-10844A>T) | gnomAD v4 |
| 15 | g.48485494T>C | CA051256 | FBN1 | c.3592A>G (p.Ile1198Val) n.2266A>G c.637-10844A>G (n.637-10844A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48485494T>G | CA392324741 | FBN1 | c.3592A>C (p.Ile1198Leu) n.2266A>C c.637-10844A>C (n.637-10844A>C) | |
| 15 | g.48485494T= | CA2175512081 | FBN1 | c.3592A= (p.Ile1198=) n.2266A= c.637-10844A= (n.637-10844A=) | |
| 15 | g.48485495G>A | CA490017703 | FBN1 | c.3591C>T (p.Asp1197=) n.2265C>T c.637-10845C>T (n.637-10845C>T) | |
| 15 | g.48485495G>C | CA392324744 | FBN1 | c.3591C>G (p.Asp1197Glu) n.2265C>G c.637-10845C>G (n.637-10845C>G) | |
| 15 | g.48485495G>T | CA392324746 | FBN1 | c.3591C>A (p.Asp1197Glu) n.2265C>A c.637-10845C>A (n.637-10845C>A) | gnomAD v4 |
| 15 | g.48485496T>A | CA392324747 | FBN1 | c.3590A>T (p.Asp1197Val) n.2264A>T c.637-10846A>T (n.637-10846A>T) | ClinVar dbSNP |
| 15 | g.48485496T>C | CA269527257 | FBN1 | c.3590A>G (p.Asp1197Gly) n.2264A>G c.637-10846A>G (n.637-10846A>G) | ClinVar dbSNP COSMIC |
| 15 | g.48485496T>G | CA392324750 | FBN1 | c.3590A>C (p.Asp1197Ala) n.2264A>C c.637-10846A>C (n.637-10846A>C) | |
| 15 | g.48485496T= | CA2175512086 | FBN1 | c.3590A= (p.Asp1197=) n.2264A= c.637-10846A= (n.637-10846A=) | |
| 15 | g.48485497C>A | CA392324752 | FBN1 | c.3590-1G>T (n.3590-1G>T) n.2264-1G>T c.637-10847G>T (n.637-10847G>T) | |
| 15 | g.48485497C= | CA2175512092 | FBN1 | c.3590-1G= (n.3590-1G=) n.2264-1G= c.637-10847G= (n.637-10847G=) | |
| 15 | g.48485497C>G | CA392324753 | FBN1 | c.3590-1G>C (n.3590-1G>C) n.2264-1G>C c.637-10847G>C (n.637-10847G>C) | |
| 15 | g.48485497C>T | CA269527271 | FBN1 | c.3590-1G>A (n.3590-1G>A) n.2264-1G>A c.637-10847G>A (n.637-10847G>A) | dbSNP |
| 15 | g.48485498T>A | CA392324760 | FBN1 | c.3590-2A>T (n.3590-2A>T) n.2264-2A>T c.637-10848A>T (n.637-10848A>T) | |
| 15 | g.48485498T>C | CA392324758 | FBN1 | c.3590-2A>G (n.3590-2A>G) n.2264-2A>G c.637-10848A>G (n.637-10848A>G) | ClinVar dbSNP |
| 15 | g.48485498T>G | CA392324756 | FBN1 | c.3590-2A>C (n.3590-2A>C) n.2264-2A>C c.637-10848A>C (n.637-10848A>C) | |
| 15 | g.48485498T= | CA2175512095 | FBN1 | c.3590-2A= (n.3590-2A=) n.2264-2A= c.637-10848A= (n.637-10848A=) | |
| 15 | g.48485500A= | CA2175512100 | FBN1 | c.3590-4T= (n.3590-4T=) n.2264-4T= c.637-10850T= (n.637-10850T=) | |
| 15 | g.48485500A>C | CA617835720 | FBN1 | c.3590-4T>G (n.3590-4T>G) n.2264-4T>G c.637-10850T>G (n.637-10850T>G) | dbSNP gnomAD v2 gnomAD v4 |