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.48448851C>A | CA392342148 | FBN1 | c.5588G>T (p.Gly1863Val) n.4262G>T c.587G>T (p.Gly196Val) c.*1351G>T (n.*1351G>T) c.895G>T | |
| 15 | g.48448851C= | CA2175498458 | FBN1 | c.5588G= (p.Gly1863=) n.4262G= c.587G= (p.Gly196=) c.*1351G= (n.*1351G=) c.895G= | |
| 15 | g.48448851C>G | CA392342152 | FBN1 | c.5588G>C (p.Gly1863Ala) n.4262G>C c.587G>C (p.Gly196Ala) c.*1351G>C (n.*1351G>C) c.895G>C | |
| 15 | g.48448851C>T | CA015911 | FBN1 | c.5588G>A (p.Gly1863Glu) n.4262G>A c.587G>A (p.Gly196Glu) c.*1351G>A (n.*1351G>A) c.895G>A | ClinVar dbSNP |
| 15 | g.48448852C>A | CA392342176 | FBN1 | c.5587G>T (p.Gly1863Trp) n.4261G>T c.586G>T (p.Gly196Trp) c.*1350G>T (n.*1350G>T) c.894G>T | |
| 15 | g.48448852C= | CA2175498467 | FBN1 | c.5587G= (p.Gly1863=) n.4261G= c.586G= (p.Gly196=) c.*1350G= (n.*1350G=) c.894G= | |
| 15 | g.48448852C>G | CA392342165 | FBN1 | c.5587G>C (p.Gly1863Arg) n.4261G>C c.586G>C (p.Gly196Arg) c.*1350G>C (n.*1350G>C) c.894G>C | |
| 15 | g.48448852C>T | CA392342167 | FBN1 | c.5587G>A (p.Gly1863Arg) n.4261G>A c.586G>A (p.Gly196Arg) c.*1350G>A (n.*1350G>A) c.894G>A | ClinVar dbSNP |
| 15 | g.48448853A>C | CA392342180 | FBN1 | c.5586T>G (p.His1862Gln) n.4260T>G c.585T>G (p.His195Gln) c.*1349T>G (n.*1349T>G) c.893T>G | |
| 15 | g.48448853A>G | CA490023287 | FBN1 | c.5586T>C (p.His1862=) n.4260T>C c.585T>C (p.His195=) c.*1349T>C (n.*1349T>C) c.893T>C | ClinVar |
| 15 | g.48448853A>T | CA392342182 | FBN1 | c.5586T>A (p.His1862Gln) n.4260T>A c.585T>A (p.His195Gln) c.*1349T>A (n.*1349T>A) c.893T>A | |
| 15 | g.48448854T>A | CA392342186 | FBN1 | c.5585A>T (p.His1862Leu) n.4259A>T c.584A>T (p.His195Leu) c.*1348A>T (n.*1348A>T) c.892A>T | |
| 15 | g.48448854T>C | CA269535035 | FBN1 | c.5585A>G (p.His1862Arg) n.4259A>G c.584A>G (p.His195Arg) c.*1348A>G (n.*1348A>G) c.892A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48448854T>G | CA392342192 | FBN1 | c.5585A>C (p.His1862Pro) n.4259A>C c.584A>C (p.His195Pro) c.*1348A>C (n.*1348A>C) c.892A>C | |
| 15 | g.48448854T= | CA2175498473 | FBN1 | c.5585A= (p.His1862=) n.4259A= c.584A= (p.His195=) c.*1348A= (n.*1348A=) c.892A= | |
| 15 | g.48448855G>A | CA392342203 | FBN1 | c.5584C>T (p.His1862Tyr) n.4258C>T c.583C>T (p.His195Tyr) c.*1347C>T (n.*1347C>T) c.891C>T | gnomAD v4 |
| 15 | g.48448855G>C | CA392342199 | FBN1 | c.5584C>G (p.His1862Asp) n.4258C>G c.583C>G (p.His195Asp) c.*1347C>G (n.*1347C>G) c.891C>G | |
| 15 | g.48448855G>T | CA392342202 | FBN1 | c.5584C>A (p.His1862Asn) n.4258C>A c.583C>A (p.His195Asn) c.*1347C>A (n.*1347C>A) c.891C>A | gnomAD v4 |
| 15 | g.48448856A>C | CA392342211 | FBN1 | c.5583T>G (p.Ser1861Arg) n.4257T>G c.582T>G (p.Ser194Arg) c.*1346T>G (n.*1346T>G) c.890T>G | |
| 15 | g.48448856A>G | CA490023298 | FBN1 | c.5583T>C (p.Ser1861=) n.4257T>C c.582T>C (p.Ser194=) c.*1346T>C (n.*1346T>C) c.890T>C | |
| 15 | g.48448856A>T | CA392342215 | FBN1 | c.5583T>A (p.Ser1861Arg) n.4257T>A c.582T>A (p.Ser194Arg) c.*1346T>A (n.*1346T>A) c.890T>A | gnomAD v4 |
| 15 | g.48448857C>A | CA392342219 | FBN1 | c.5582G>T (p.Ser1861Ile) n.4256G>T c.581G>T (p.Ser194Ile) c.*1345G>T (n.*1345G>T) c.889G>T | |
| 15 | g.48448857C= | CA2175498483 | FBN1 | c.5582G= (p.Ser1861=) n.4256G= c.581G= (p.Ser194=) c.*1345G= (n.*1345G=) c.889G= | |
| 15 | g.48448857C>G | CA392342224 | FBN1 | c.5582G>C (p.Ser1861Thr) n.4256G>C c.581G>C (p.Ser194Thr) c.*1345G>C (n.*1345G>C) c.889G>C | |
| 15 | g.48448857C>T | CA055263 | FBN1 | c.5582G>A (p.Ser1861Asn) n.4256G>A c.581G>A (p.Ser194Asn) c.*1345G>A (n.*1345G>A) c.889G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48448857dup | CA2695220286 | FBN1 | c.5582dup (p.Ser1861ArgfsTer7) n.4256dup c.581dup (p.Ser194ArgfsTer7) c.*1345dup (n.*1345dup) c.889dup | |
| 15 | g.48448858T>A | CA392342232 | FBN1 | c.5581A>T (p.Ser1861Cys) n.4255A>T c.580A>T (p.Ser194Cys) c.*1344A>T (n.*1344A>T) c.888A>T | |
| 15 | g.48448858T>C | CA392342239 | FBN1 | c.5581A>G (p.Ser1861Gly) n.4255A>G c.580A>G (p.Ser194Gly) c.*1344A>G (n.*1344A>G) c.888A>G | gnomAD v4 |
| 15 | g.48448858T>G | CA392342244 | FBN1 | c.5581A>C (p.Ser1861Arg) n.4255A>C c.580A>C (p.Ser194Arg) c.*1344A>C (n.*1344A>C) c.888A>C | ClinVar dbSNP |
| 15 | g.48448858dup | CA2695220288 | FBN1 | c.5581dup (p.Ser1861LysfsTer7) n.4255dup c.580dup (p.Ser194LysfsTer7) c.*1344dup (n.*1344dup) c.888dup | |
| 15 | g.48448859G>A | CA490023309 | FBN1 | c.5580C>T (p.Cys1860=) n.4254C>T c.579C>T (p.Cys193=) c.*1343C>T (n.*1343C>T) c.887C>T | |
| 15 | g.48448859G>C | CA392342246 | FBN1 | c.5580C>G (p.Cys1860Trp) n.4254C>G c.579C>G (p.Cys193Trp) c.*1343C>G (n.*1343C>G) c.887C>G | |
| 15 | g.48448859G>T | CA392342250 | FBN1 | c.5580C>A (p.Cys1860Ter) n.4254C>A c.579C>A (p.Cys193Ter) c.*1343C>A (n.*1343C>A) c.887C>A | |
| 15 | g.48448860C>A | CA392342267 | FBN1 | c.5579G>T (p.Cys1860Phe) n.4253G>T c.578G>T (p.Cys193Phe) c.*1342G>T (n.*1342G>T) c.886G>T | gnomAD v4 |
| 15 | g.48448860C= | CA2175498492 | FBN1 | c.5579G= (p.Cys1860=) n.4253G= c.578G= (p.Cys193=) c.*1342G= (n.*1342G=) c.886G= | |
| 15 | g.48448860C>G | CA392342271 | FBN1 | c.5579G>C (p.Cys1860Ser) n.4253G>C c.578G>C (p.Cys193Ser) c.*1342G>C (n.*1342G>C) c.886G>C | |
| 15 | g.48448860C>T | CA392342277 | FBN1 | c.5579G>A (p.Cys1860Tyr) n.4253G>A c.578G>A (p.Cys193Tyr) c.*1342G>A (n.*1342G>A) c.886G>A | ClinVar dbSNP |
| 15 | g.48448861A>C | CA392342281 | FBN1 | c.5578T>G (p.Cys1860Gly) n.4252T>G c.577T>G (p.Cys193Gly) c.*1341T>G (n.*1341T>G) c.885T>G | |
| 15 | g.48448861A>G | CA392342288 | FBN1 | c.5578T>C (p.Cys1860Arg) n.4252T>C c.577T>C (p.Cys193Arg) c.*1341T>C (n.*1341T>C) c.885T>C | ClinVar |
| 15 | g.48448861A>T | CA392342284 | FBN1 | c.5578T>A (p.Cys1860Ser) n.4252T>A c.577T>A (p.Cys193Ser) c.*1341T>A (n.*1341T>A) c.885T>A | |
| 15 | g.48448862T>A | CA490023316 | FBN1 | c.5577A>T (p.Ile1859=) n.4251A>T c.576A>T (p.Ile192=) c.*1340A>T (n.*1340A>T) c.884A>T | |
| 15 | g.48448862T>C | CA392342294 | FBN1 | c.5577A>G (p.Ile1859Met) n.4251A>G c.576A>G (p.Ile192Met) c.*1340A>G (n.*1340A>G) c.884A>G | |
| 15 | g.48448862T>G | CA490023321 | FBN1 | c.5577A>C (p.Ile1859=) n.4251A>C c.576A>C (p.Ile192=) c.*1340A>C (n.*1340A>C) c.884A>C | |
| 15 | g.48448862dup | CA2580089560 | FBN1 | c.5577dup (p.Cys1860MetfsTer8) n.4251dup c.576dup (p.Cys193MetfsTer8) c.*1340dup (n.*1340dup) c.884dup | ClinVar |
| 15 | g.48448863A>C | CA392342298 | FBN1 | c.5576T>G (p.Ile1859Arg) n.4250T>G c.575T>G (p.Ile192Arg) c.*1339T>G (n.*1339T>G) c.883T>G | |
| 15 | g.48448863A>G | CA392342302 | FBN1 | c.5576T>C (p.Ile1859Thr) n.4250T>C c.575T>C (p.Ile192Thr) c.*1339T>C (n.*1339T>C) c.883T>C | ClinVar |
| 15 | g.48448863A>T | CA392342321 | FBN1 | c.5576T>A (p.Ile1859Lys) n.4250T>A c.575T>A (p.Ile192Lys) c.*1339T>A (n.*1339T>A) c.883T>A | |
| 15 | g.48448864T>A | CA392342324 | FBN1 | c.5575A>T (p.Ile1859Leu) n.4249A>T c.574A>T (p.Ile192Leu) c.*1338A>T (n.*1338A>T) c.882A>T | COSMIC |
| 15 | g.48448864T>C | CA392342331 | FBN1 | c.5575A>G (p.Ile1859Val) n.4249A>G c.574A>G (p.Ile192Val) c.*1338A>G (n.*1338A>G) c.882A>G | ClinVar gnomAD v4 |
| 15 | g.48448864T>G | CA392342335 | FBN1 | c.5575A>C (p.Ile1859Leu) n.4249A>C c.574A>C (p.Ile192Leu) c.*1338A>C (n.*1338A>C) c.882A>C | |
| 15 | g.48448865A>C | CA392342342 | FBN1 | c.5574T>G (p.Asn1858Lys) n.4248T>G c.573T>G (p.Asn191Lys) c.*1337T>G (n.*1337T>G) c.881T>G | |
| 15 | g.48448865A>G | CA490023327 | FBN1 | c.5574T>C (p.Asn1858=) n.4248T>C c.573T>C (p.Asn191=) c.*1337T>C (n.*1337T>C) c.881T>C | |
| 15 | g.48448865A>T | CA392342344 | FBN1 | c.5574T>A (p.Asn1858Lys) n.4248T>A c.573T>A (p.Asn191Lys) c.*1337T>A (n.*1337T>A) c.881T>A | gnomAD v4 |
| 15 | g.48448866T>A | CA392342349 | FBN1 | c.5573A>T (p.Asn1858Ile) n.4247A>T c.572A>T (p.Asn191Ile) c.*1336A>T (n.*1336A>T) c.880A>T | |
| 15 | g.48448866T>C | CA055254 | FBN1 | c.5573A>G (p.Asn1858Ser) n.4247A>G c.572A>G (p.Asn191Ser) c.*1336A>G (n.*1336A>G) c.880A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48448866T>G | CA392342356 | FBN1 | c.5573A>C (p.Asn1858Thr) n.4247A>C c.572A>C (p.Asn191Thr) c.*1336A>C (n.*1336A>C) c.880A>C | ClinVar dbSNP |
| 15 | g.48448866T= | CA2175498503 | FBN1 | c.5573A= (p.Asn1858=) n.4247A= c.572A= (p.Asn191=) c.*1336A= (n.*1336A=) c.880A= | |
| 15 | g.48448867T>A | CA392342366 | FBN1 | c.5572A>T (p.Asn1858Tyr) n.4246A>T c.571A>T (p.Asn191Tyr) c.*1335A>T (n.*1335A>T) c.879A>T | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48448867T>C | CA392342361 | FBN1 | c.5572A>G (p.Asn1858Asp) n.4246A>G c.571A>G (p.Asn191Asp) c.*1335A>G (n.*1335A>G) c.879A>G | |
| 15 | g.48448867T>G | CA392342363 | FBN1 | c.5572A>C (p.Asn1858His) n.4246A>C c.571A>C (p.Asn191His) c.*1335A>C (n.*1335A>C) c.879A>C | |
| 15 | g.48448867T= | CA2175498514 | FBN1 | c.5572A= (p.Asn1858=) n.4246A= c.571A= (p.Asn191=) c.*1335A= (n.*1335A=) c.879A= | |
| 15 | g.48448867_48448868delinsTG | CA2175498511 | FBN1 | c.5571_5572delinsCA (p.Pro1857=) n.4245_4246delinsCA c.570_571delinsCA (p.Pro190=) c.*1334_*1335delinsCA (n.*1334_*1335delinsCA) c.878_879delinsCA | |
| 15 | g.48448868G>A | CA490023333 | FBN1 | c.5571C>T (p.Pro1857=) n.4245C>T c.570C>T (p.Pro190=) c.*1334C>T (n.*1334C>T) c.878C>T | |
| 15 | g.48448868G>C | CA490023335 | FBN1 | c.5571C>G (p.Pro1857=) n.4245C>G c.570C>G (p.Pro190=) c.*1334C>G (n.*1334C>G) c.878C>G | gnomAD v4 |
| 15 | g.48448868G= | CA2175498524 | FBN1 | c.5571C= (p.Pro1857=) n.4245C= c.570C= (p.Pro190=) c.*1334C= (n.*1334C=) c.878C= | |
| 15 | g.48448868G>T | CA055252 | FBN1 | c.5571C>A (p.Pro1857=) n.4245C>A c.570C>A (p.Pro190=) c.*1334C>A (n.*1334C>A) c.878C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48448871del | CA915945987 | FBN1 | c.5571del (p.Asn1858IlefsTer?) n.4245del c.570del (p.Asn191IlefsTer?) c.*1334del (n.*1334del) c.878del | ClinVar dbSNP |
| 15 | g.48448869G>A | CA392342376 | FBN1 | c.5570C>T (p.Pro1857Leu) n.4244C>T c.569C>T (p.Pro190Leu) c.*1333C>T (n.*1333C>T) c.877C>T | |
| 15 | g.48448869G>C | CA392342377 | FBN1 | c.5570C>G (p.Pro1857Arg) n.4244C>G c.569C>G (p.Pro190Arg) c.*1333C>G (n.*1333C>G) c.877C>G | |
| 15 | g.48448869G>T | CA392342378 | FBN1 | c.5570C>A (p.Pro1857His) n.4244C>A c.569C>A (p.Pro190His) c.*1333C>A (n.*1333C>A) c.877C>A | |
| 15 | g.48448870G>A | CA392342381 | FBN1 | c.5569C>T (p.Pro1857Ser) n.4243C>T c.568C>T (p.Pro190Ser) c.*1332C>T (n.*1332C>T) c.876C>T | ClinVar dbSNP gnomAD v4 |
| 15 | g.48448870G>C | CA392342383 | FBN1 | c.5569C>G (p.Pro1857Ala) n.4243C>G c.568C>G (p.Pro190Ala) c.*1332C>G (n.*1332C>G) c.876C>G | COSMIC |
| 15 | g.48448870G= | CA2175498534 | FBN1 | c.5569C= (p.Pro1857=) n.4243C= c.568C= (p.Pro190=) c.*1332C= (n.*1332C=) c.876C= | |
| 15 | g.48448870G>T | CA392342386 | FBN1 | c.5569C>A (p.Pro1857Thr) n.4243C>A c.568C>A (p.Pro190Thr) c.*1332C>A (n.*1332C>A) c.876C>A | |
| 15 | g.48448871G>A | CA490023350 | FBN1 | c.5568C>T (p.Ile1856=) n.4242C>T c.567C>T (p.Ile189=) c.*1331C>T (n.*1331C>T) c.875C>T | dbSNP |
| 15 | g.48448871G>C | CA392342389 | FBN1 | c.5568C>G (p.Ile1856Met) n.4242C>G c.567C>G (p.Ile189Met) c.*1331C>G (n.*1331C>G) c.875C>G | |
| 15 | g.48448871G>T | CA490023352 | FBN1 | c.5568C>A (p.Ile1856=) n.4242C>A c.567C>A (p.Ile189=) c.*1331C>A (n.*1331C>A) c.875C>A | |
| 15 | g.48448872A= | CA2175498537 | FBN1 | c.5567T= (p.Ile1856=) n.4241T= c.566T= (p.Ile189=) c.*1330T= (n.*1330T=) c.874T= | |
| 15 | g.48448872A>C | CA392342392 | FBN1 | c.5567T>G (p.Ile1856Ser) n.4241T>G c.566T>G (p.Ile189Ser) c.*1330T>G (n.*1330T>G) c.874T>G | |
| 15 | g.48448872A>G | CA392342395 | FBN1 | c.5567T>C (p.Ile1856Thr) n.4241T>C c.566T>C (p.Ile189Thr) c.*1330T>C (n.*1330T>C) c.874T>C | |
| 15 | g.48448872A>T | CA055247 | FBN1 | c.5567T>A (p.Ile1856Asn) n.4241T>A c.566T>A (p.Ile189Asn) c.*1330T>A (n.*1330T>A) c.874T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48448873T>A | CA392342411 | FBN1 | c.5566A>T (p.Ile1856Phe) n.4240A>T c.565A>T (p.Ile189Phe) c.*1329A>T (n.*1329A>T) c.873A>T | |
| 15 | g.48448873T>C | CA392342417 | FBN1 | c.5566A>G (p.Ile1856Val) n.4240A>G c.565A>G (p.Ile189Val) c.*1329A>G (n.*1329A>G) c.873A>G | ClinVar dbSNP |
| 15 | g.48448873T>G | CA392342414 | FBN1 | c.5566A>C (p.Ile1856Leu) n.4240A>C c.565A>C (p.Ile189Leu) c.*1329A>C (n.*1329A>C) c.873A>C | |
| 15 | g.48448874T>A | CA392342423 | FBN1 | c.5565A>T (p.Glu1855Asp) n.4239A>T c.564A>T (p.Glu188Asp) c.*1328A>T (n.*1328A>T) c.872A>T | |
| 15 | g.48448874T>C | CA490023358 | FBN1 | c.5565A>G (p.Glu1855=) n.4239A>G c.564A>G (p.Glu188=) c.*1328A>G (n.*1328A>G) c.872A>G | |
| 15 | g.48448874T>G | CA392342450 | FBN1 | c.5565A>C (p.Glu1855Asp) n.4239A>C c.564A>C (p.Glu188Asp) c.*1328A>C (n.*1328A>C) c.872A>C | |
| 15 | g.48448875T>A | CA392342456 | FBN1 | c.5564A>T (p.Glu1855Val) n.4238A>T c.563A>T (p.Glu188Val) c.*1327A>T (n.*1327A>T) c.871A>T | |
| 15 | g.48448875T>C | CA392342461 | FBN1 | c.5564A>G (p.Glu1855Gly) n.4238A>G c.563A>G (p.Glu188Gly) c.*1327A>G (n.*1327A>G) c.871A>G | |
| 15 | g.48448875T>G | CA392342459 | FBN1 | c.5564A>C (p.Glu1855Ala) n.4238A>C c.563A>C (p.Glu188Ala) c.*1327A>C (n.*1327A>C) c.871A>C | |
| 15 | g.48448876C>A | CA392342467 | FBN1 | c.5563G>T (p.Glu1855Ter) n.4237G>T c.562G>T (p.Glu188Ter) c.*1326G>T (n.*1326G>T) c.870G>T | ClinVar COSMIC |
| 15 | g.48448876C>G | CA392342471 | FBN1 | c.5563G>C (p.Glu1855Gln) n.4237G>C c.562G>C (p.Glu188Gln) c.*1326G>C (n.*1326G>C) c.870G>C | |
| 15 | g.48448876C>T | CA392342476 | FBN1 | c.5563G>A (p.Glu1855Lys) n.4237G>A c.562G>A (p.Glu188Lys) c.*1326G>A (n.*1326G>A) c.870G>A | |
| 15 | g.48448877T>A | CA392342484 | FBN1 | c.5562A>T (p.Gln1854His) n.4236A>T c.561A>T (p.Gln187His) c.*1325A>T (n.*1325A>T) c.869A>T | |
| 15 | g.48448877T>C | CA055240 | FBN1 | c.5562A>G (p.Gln1854=) n.4236A>G c.561A>G (p.Gln187=) c.*1325A>G (n.*1325A>G) c.869A>G | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.48448877T>G | CA392342490 | FBN1 | c.5562A>C (p.Gln1854His) n.4236A>C c.561A>C (p.Gln187His) c.*1325A>C (n.*1325A>C) c.869A>C | COSMIC |
| 15 | g.48448877T= | CA2175498539 | FBN1 | c.5562A= (p.Gln1854=) n.4236A= c.561A= (p.Gln187=) c.*1325A= (n.*1325A=) c.869A= | |
| 15 | g.48448878T>A | CA392342495 | FBN1 | c.5561A>T (p.Gln1854Leu) n.4235A>T c.560A>T (p.Gln187Leu) c.*1324A>T (n.*1324A>T) c.868A>T | |
| 15 | g.48448878T>C | CA392342498 | FBN1 | c.5561A>G (p.Gln1854Arg) n.4235A>G c.560A>G (p.Gln187Arg) c.*1324A>G (n.*1324A>G) c.868A>G | |
| 15 | g.48448878T>G | CA392342500 | FBN1 | c.5561A>C (p.Gln1854Pro) n.4235A>C c.560A>C (p.Gln187Pro) c.*1324A>C (n.*1324A>C) c.868A>C | |
| 15 | g.48448879G>A | CA392342502 | FBN1 | c.5560C>T (p.Gln1854Ter) n.4234C>T c.559C>T (p.Gln187Ter) c.*1323C>T (n.*1323C>T) c.867C>T | ClinVar dbSNP |
| 15 | g.48448879G>C | CA392342504 | FBN1 | c.5560C>G (p.Gln1854Glu) n.4234C>G c.559C>G (p.Gln187Glu) c.*1323C>G (n.*1323C>G) c.867C>G | |
| 15 | g.48448879G>T | CA392342515 | FBN1 | c.5560C>A (p.Gln1854Lys) n.4234C>A c.559C>A (p.Gln187Lys) c.*1323C>A (n.*1323C>A) c.867C>A | gnomAD v4 |
| 15 | g.48448880del | CA2695220289 | FBN1 | c.5559del (p.Gln1854LysfsTer?) n.4233del c.558del (p.Gln187LysfsTer?) c.*1322del (n.*1322del) c.866del | |
| 15 | g.48448880A>C | CA392342519 | FBN1 | c.5559T>G (p.Cys1853Trp) n.4233T>G c.558T>G (p.Cys186Trp) c.*1322T>G (n.*1322T>G) c.866T>G | ClinVar |
| 15 | g.48448880A>G | CA490023382 | FBN1 | c.5559T>C (p.Cys1853=) n.4233T>C c.558T>C (p.Cys186=) c.*1322T>C (n.*1322T>C) c.866T>C | |
| 15 | g.48448880A>T | CA392342522 | FBN1 | c.5559T>A (p.Cys1853Ter) n.4233T>A c.558T>A (p.Cys186Ter) c.*1322T>A (n.*1322T>A) c.866T>A | |
| 15 | g.48448881C>A | CA392342526 | FBN1 | c.5558G>T (p.Cys1853Phe) n.4232G>T c.557G>T (p.Cys186Phe) c.*1321G>T (n.*1321G>T) c.865G>T | |
| 15 | g.48448881C= | CA2175498547 | FBN1 | c.5558G= (p.Cys1853=) n.4232G= c.557G= (p.Cys186=) c.*1321G= (n.*1321G=) c.865G= | |
| 15 | g.48448881C>G | CA392342527 | FBN1 | c.5558G>C (p.Cys1853Ser) n.4232G>C c.557G>C (p.Cys186Ser) c.*1321G>C (n.*1321G>C) c.865G>C | ClinVar dbSNP |
| 15 | g.48448881C>T | CA392342530 | FBN1 | c.5558G>A (p.Cys1853Tyr) n.4232G>A c.557G>A (p.Cys186Tyr) c.*1321G>A (n.*1321G>A) c.865G>A | ClinVar dbSNP |
| 15 | g.48448882A= | CA2175498557 | FBN1 | c.5557T= (p.Cys1853=) n.4231T= c.556T= (p.Cys186=) c.*1320T= (n.*1320T=) c.864T= | |
| 15 | g.48448882A>C | CA392342534 | FBN1 | c.5557T>G (p.Cys1853Gly) n.4231T>G c.556T>G (p.Cys186Gly) c.*1320T>G (n.*1320T>G) c.864T>G | |
| 15 | g.48448882A>G | CA392342536 | FBN1 | c.5557T>C (p.Cys1853Arg) n.4231T>C c.556T>C (p.Cys186Arg) c.*1320T>C (n.*1320T>C) c.864T>C | ClinVar dbSNP |
| 15 | g.48448882A>T | CA392342539 | FBN1 | c.5557T>A (p.Cys1853Ser) n.4231T>A c.556T>A (p.Cys186Ser) c.*1320T>A (n.*1320T>A) c.864T>A | ClinVar dbSNP |
| 15 | g.48448883T>A | CA392342542 | FBN1 | c.5556A>T (p.Glu1852Asp) n.4230A>T c.555A>T (p.Glu185Asp) c.*1319A>T (n.*1319A>T) c.863A>T | |
| 15 | g.48448883T>C | CA055235 | FBN1 | c.5556A>G (p.Glu1852=) n.4230A>G c.555A>G (p.Glu185=) c.*1319A>G (n.*1319A>G) c.863A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48448883T>G | CA392342547 | FBN1 | c.5556A>C (p.Glu1852Asp) n.4230A>C c.555A>C (p.Glu185Asp) c.*1319A>C (n.*1319A>C) c.863A>C | |
| 15 | g.48448883T= | CA2175498567 | FBN1 | c.5556A= (p.Glu1852=) n.4230A= c.555A= (p.Glu185=) c.*1319A= (n.*1319A=) c.863A= | |
| 15 | g.48448884T>A | CA392342551 | FBN1 | c.5555A>T (p.Glu1852Val) n.4229A>T c.554A>T (p.Glu185Val) c.*1318A>T (n.*1318A>T) c.862A>T | |
| 15 | g.48448884T>C | CA347974 | FBN1 | c.5555A>G (p.Glu1852Gly) n.4229A>G c.554A>G (p.Glu185Gly) c.*1318A>G (n.*1318A>G) c.862A>G | ClinVar dbSNP |
| 15 | g.48448884T>G | CA392342557 | FBN1 | c.5555A>C (p.Glu1852Ala) n.4229A>C c.554A>C (p.Glu185Ala) c.*1318A>C (n.*1318A>C) c.862A>C | ClinVar |
| 15 | g.48448884T= | CA2175498574 | FBN1 | c.5555A= (p.Glu1852=) n.4229A= c.554A= (p.Glu185=) c.*1318A= (n.*1318A=) c.862A= | |
| 15 | g.48448885C>A | CA392342561 | FBN1 | c.5554G>T (p.Glu1852Ter) n.4228G>T c.553G>T (p.Glu185Ter) c.*1317G>T (n.*1317G>T) c.861G>T | |
| 15 | g.48448885C>G | CA392342567 | FBN1 | c.5554G>C (p.Glu1852Gln) n.4228G>C c.553G>C (p.Glu185Gln) c.*1317G>C (n.*1317G>C) c.861G>C | |
| 15 | g.48448885C>T | CA392342563 | FBN1 | c.5554G>A (p.Glu1852Lys) n.4228G>A c.553G>A (p.Glu185Lys) c.*1317G>A (n.*1317G>A) c.861G>A | |
| 15 | g.48448886A>C | CA392342570 | FBN1 | c.5553T>G (p.Asn1851Lys) n.4227T>G c.552T>G (p.Asn184Lys) c.*1316T>G (n.*1316T>G) c.860T>G | |
| 15 | g.48448886A>G | CA490023393 | FBN1 | c.5553T>C (p.Asn1851=) n.4227T>C c.552T>C (p.Asn184=) c.*1316T>C (n.*1316T>C) c.860T>C | gnomAD v4 |
| 15 | g.48448886A>T | CA392342572 | FBN1 | c.5553T>A (p.Asn1851Lys) n.4227T>A c.552T>A (p.Asn184Lys) c.*1316T>A (n.*1316T>A) c.860T>A | |
| 15 | g.48448887T>A | CA392342576 | FBN1 | c.5552A>T (p.Asn1851Ile) n.4226A>T c.551A>T (p.Asn184Ile) c.*1315A>T (n.*1315A>T) c.859A>T | |
| 15 | g.48448887T>C | CA015886 | FBN1 | c.5552A>G (p.Asn1851Ser) n.4226A>G c.551A>G (p.Asn184Ser) c.*1315A>G (n.*1315A>G) c.859A>G | ClinVar dbSNP |
| 15 | g.48448887T>G | CA392342581 | FBN1 | c.5552A>C (p.Asn1851Thr) n.4226A>C c.551A>C (p.Asn184Thr) c.*1315A>C (n.*1315A>C) c.859A>C | |
| 15 | g.48448887T= | CA2175498602 | FBN1 | c.5552A= (p.Asn1851=) n.4226A= c.551A= (p.Asn184=) c.*1315A= (n.*1315A=) c.859A= | |
| 15 | g.48448888T>A | CA392342585 | FBN1 | c.5551A>T (p.Asn1851Tyr) n.4225A>T c.550A>T (p.Asn184Tyr) c.*1314A>T (n.*1314A>T) c.858A>T | |
| 15 | g.48448888T>C | CA392342588 | FBN1 | c.5551A>G (p.Asn1851Asp) n.4225A>G c.550A>G (p.Asn184Asp) c.*1314A>G (n.*1314A>G) c.858A>G | |
| 15 | g.48448888T>G | CA392342591 | FBN1 | c.5551A>C (p.Asn1851His) n.4225A>C c.550A>C (p.Asn184His) c.*1314A>C (n.*1314A>C) c.858A>C | |
| 15 | g.48448889A>C | CA490023405 | FBN1 | c.5550T>G (p.Arg1850=) n.4224T>G c.549T>G (p.Arg183=) c.*1313T>G (n.*1313T>G) c.857T>G | |
| 15 | g.48448889A>G | CA490023407 | FBN1 | c.5550T>C (p.Arg1850=) n.4224T>C c.549T>C (p.Arg183=) c.*1313T>C (n.*1313T>C) c.857T>C | COSMIC |
| 15 | g.48448889A>T | CA490023409 | FBN1 | c.5550T>A (p.Arg1850=) n.4224T>A c.549T>A (p.Arg183=) c.*1313T>A (n.*1313T>A) c.857T>A | |
| 15 | g.48448890C>A | CA392342598 | FBN1 | c.5549G>T (p.Arg1850Leu) n.4223G>T c.548G>T (p.Arg183Leu) c.*1312G>T (n.*1312G>T) c.856G>T | |
| 15 | g.48448890C= | CA2175498616 | FBN1 | c.5549G= (p.Arg1850=) n.4223G= c.548G= (p.Arg183=) c.*1312G= (n.*1312G=) c.856G= | |
| 15 | g.48448890C>G | CA392342600 | FBN1 | c.5549G>C (p.Arg1850Pro) n.4223G>C c.548G>C (p.Arg183Pro) c.*1312G>C (n.*1312G>C) c.856G>C | COSMIC |
| 15 | g.48448890C>T | CA055230 | FBN1 | c.5549G>A (p.Arg1850His) n.4223G>A c.548G>A (p.Arg183His) c.*1312G>A (n.*1312G>A) c.856G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48448891G>A | CA055227 | FBN1 | c.5548C>T (p.Arg1850Cys) n.4222C>T c.547C>T (p.Arg183Cys) c.*1311C>T (n.*1311C>T) c.855C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.48448891G>C | CA392342607 | FBN1 | c.5548C>G (p.Arg1850Gly) n.4222C>G c.547C>G (p.Arg183Gly) c.*1311C>G (n.*1311C>G) c.855C>G | gnomAD v4 |
| 15 | g.48448891G= | CA2175498623 | FBN1 | c.5548C= (p.Arg1850=) n.4222C= c.547C= (p.Arg183=) c.*1311C= (n.*1311C=) c.855C= | |
| 15 | g.48448891G>T | CA392342604 | FBN1 | c.5548C>A (p.Arg1850Ser) n.4222C>A c.547C>A (p.Arg183Ser) c.*1311C>A (n.*1311C>A) c.855C>A | |
| 15 | g.48448892A>C | CA392342613 | FBN1 | c.5547T>G (p.Asp1849Glu) n.4221T>G c.546T>G (p.Asp182Glu) c.*1310T>G (n.*1310T>G) c.854T>G | |
| 15 | g.48448892A>G | CA490023417 | FBN1 | c.5547T>C (p.Asp1849=) n.4221T>C c.546T>C (p.Asp182=) c.*1310T>C (n.*1310T>C) c.854T>C | |
| 15 | g.48448892A>T | CA392342615 | FBN1 | c.5547T>A (p.Asp1849Glu) n.4221T>A c.546T>A (p.Asp182Glu) c.*1310T>A (n.*1310T>A) c.854T>A | |
| 15 | g.48448893T>A | CA392342620 | FBN1 | c.5546A>T (p.Asp1849Val) n.4220A>T c.545A>T (p.Asp182Val) c.*1309A>T (n.*1309A>T) c.853A>T | dbSNP |
| 15 | g.48448893T>C | CA392342622 | FBN1 | c.5546A>G (p.Asp1849Gly) n.4220A>G c.545A>G (p.Asp182Gly) c.*1309A>G (n.*1309A>G) c.853A>G | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48448893T>G | CA392342625 | FBN1 | c.5546A>C (p.Asp1849Ala) n.4220A>C c.545A>C (p.Asp182Ala) c.*1309A>C (n.*1309A>C) c.853A>C | |
| 15 | g.48448893T= | CA2175498628 | FBN1 | c.5546A= (p.Asp1849=) n.4220A= c.545A= (p.Asp182=) c.*1309A= (n.*1309A=) c.853A= | |
| 15 | g.48448894C>A | CA392342630 | FBN1 | c.5546-1G>T (n.5546-1G>T) n.4220-1G>T c.545-1G>T (n.545-1G>T) c.*1309-1G>T (n.*1309-1G>T) c.853-1G>T | |
| 15 | g.48448894C= | CA2175498633 | FBN1 | c.5546-1G= (n.5546-1G=) n.4220-1G= c.545-1G= (n.545-1G=) c.*1309-1G= (n.*1309-1G=) c.853-1G= | |
| 15 | g.48448894C>G | CA392342632 | FBN1 | c.5546-1G>C (n.5546-1G>C) n.4220-1G>C c.545-1G>C (n.545-1G>C) c.*1309-1G>C (n.*1309-1G>C) c.853-1G>C | |
| 15 | g.48448894C>T | CA392342636 | FBN1 | c.5546-1G>A (n.5546-1G>A) n.4220-1G>A c.545-1G>A (n.545-1G>A) c.*1309-1G>A (n.*1309-1G>A) c.853-1G>A | ClinVar dbSNP |
| 15 | g.48448894_48448895insATTGCAC | CA2628347967 | FBN1 | c.5546-1_5546insTGCAATG (n.5546-1_5546insTGCAATG) n.4220-1_4220insTGCAATG c.545-1_545insTGCAATG (n.545-1_545insTGCAATG) c.*1309-1_*1309insTGCAATG (n.*1309-1_*1309insTGCAATG) c.853-1_853insTGCAATG | gnomAD v4 |
| 15 | g.48448894_48448895insA | CA2628347968 | FBN1 | c.5546-2_5546-1insT (n.5546-2_5546-1insT) n.4220-2_4220-1insT c.545-2_545-1insT (n.545-2_545-1insT) c.*1309-2_*1309-1insT (n.*1309-2_*1309-1insT) c.853-2_853-1insT | gnomAD v4 |
| 15 | g.48448894_48448895insATTGCACTGTCCTGTGGAGGTGAAGCGGTAGCCGGGCT | CA2628347969 | FBN1 | c.5546-2_5546-1insAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT (n.5546-2_5546-1insAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT) n.4220-2_4220-1insAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT c.545-2_545-1insAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT (n.545-2_545-1insAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT) c.*1309-2_*1309-1insAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT (n.*1309-2_*1309-1insAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT) c.853-2_853-1insAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT | gnomAD v4 |
| 15 | g.48448894_48448895insATTGCACTGTCCTGTGGAGGTGAAGCGGTAGCCGGGCTTACAG | CA2628347970 | FBN1 | c.5546-2_5546-1insCTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT (n.5546-2_5546-1insCTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT) n.4220-2_4220-1insCTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT c.545-2_545-1insCTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT (n.545-2_545-1insCTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT) c.*1309-2_*1309-1insCTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT (n.*1309-2_*1309-1insCTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT) c.853-2_853-1insCTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT | gnomAD v4 |
| 15 | g.48448894_48448895insATTGCACTGTCCTGTGGAGGTGAAGCGGTAGCCGGGCTTACAGTCACAGCGG | CA2628347971 | FBN1 | c.5546-2_5546-1insCCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT (n.5546-2_5546-1insCCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT) n.4220-2_4220-1insCCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT c.545-2_545-1insCCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT (n.545-2_545-1insCCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT) c.*1309-2_*1309-1insCCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT (n.*1309-2_*1309-1insCCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT) c.853-2_853-1insCCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT | gnomAD v4 |
| 15 | g.48448894_48448895insATTGCACTGTCCTGTGGAGGTGAAGCGGTAGCCGGGCTTACAGTCACAGCGGTAGCTGCCTGCAG | CA2628347972 | FBN1 | c.5546-2_5546-1insCTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT (n.5546-2_5546-1insCTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT) n.4220-2_4220-1insCTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT c.545-2_545-1insCTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT (n.545-2_545-1insCTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT) c.*1309-2_*1309-1insCTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT (n.*1309-2_*1309-1insCTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT) c.853-2_853-1insCTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT | gnomAD v4 |
| 15 | g.48448894_48448895insATTGCACTGTCCTGTGGAGGTGAAGCGGTAGCCGGGCTTACAGTCACAGCGGTAGCTGCCTGCAGTGTTGATGCAT | CA2628347973 | FBN1 | c.5546-2_5546-1insATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT (n.5546-2_5546-1insATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT) n.4220-2_4220-1insATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT c.545-2_545-1insATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT (n.545-2_545-1insATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT) c.*1309-2_*1309-1insATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT (n.*1309-2_*1309-1insATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT) c.853-2_853-1insATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT | gnomAD v4 |
| 15 | g.48448894_48448895insATTGCACTGTCCTGTGGAGGTGAAGCGGTAGCCGGGCTTACAGTCACAGCGGTAGCTGCCTGCAGTGTTGATGCATTCGGCG | CA2628347974 | FBN1 | c.5546-2_5546-1insCGCCGAATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT (n.5546-2_5546-1insCGCCGAATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT) n.4220-2_4220-1insCGCCGAATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT c.545-2_545-1insCGCCGAATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT (n.545-2_545-1insCGCCGAATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT) c.*1309-2_*1309-1insCGCCGAATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT (n.*1309-2_*1309-1insCGCCGAATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT) c.853-2_853-1insCGCCGAATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT | gnomAD v4 |
| 15 | g.48448894_48448895insATTGCACTGTCCTGTGGAGGTGAAGCGGTAGCCGGGCTTACAGTCACAGCGGTAGCTGCCTGCAGTGTTGATGCATTCGGCGT | CA2628347975 | FBN1 | c.5546-2_5546-1insACGCCGAATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT (n.5546-2_5546-1insACGCCGAATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT) n.4220-2_4220-1insACGCCGAATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT c.545-2_545-1insACGCCGAATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT (n.545-2_545-1insACGCCGAATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT) c.*1309-2_*1309-1insACGCCGAATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT (n.*1309-2_*1309-1insACGCCGAATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT) c.853-2_853-1insACGCCGAATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT | gnomAD v4 |
| 15 | g.48448895T>A | CA392342639 | FBN1 | c.5546-2A>T (n.5546-2A>T) n.4220-2A>T c.545-2A>T (n.545-2A>T) c.*1309-2A>T (n.*1309-2A>T) c.853-2A>T | |
| 15 | g.48448895T>C | CA392342642 | FBN1 | c.5546-2A>G (n.5546-2A>G) n.4220-2A>G c.545-2A>G (n.545-2A>G) c.*1309-2A>G (n.*1309-2A>G) c.853-2A>G | |
| 15 | g.48448895T>G | CA392342645 | FBN1 | c.5546-2A>C (n.5546-2A>C) n.4220-2A>C c.545-2A>C (n.545-2A>C) c.*1309-2A>C (n.*1309-2A>C) c.853-2A>C | |
| 15 | g.48448895_48448896insTGCACTGTCCTGTGGAGGTGAAGCGGTAGCCGGGCTTACAGTCACAGCG | CA2628347976 | FBN1 | c.5546-3_5546-2insCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCA (n.5546-3_5546-2insCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCA) n.4220-3_4220-2insCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCA c.545-3_545-2insCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCA (n.545-3_545-2insCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCA) c.*1309-3_*1309-2insCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCA (n.*1309-3_*1309-2insCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCA) c.853-3_853-2insCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCA | gnomAD v4 |
| 15 | g.48448896G>C | CA2580089564 | FBN1 | c.5546-3C>G (n.5546-3C>G) n.4220-3C>G c.545-3C>G (n.545-3C>G) c.*1309-3C>G (n.*1309-3C>G) c.853-3C>G | ClinVar |
| 15 | g.48448897T>G | CA269535074 | FBN1 | c.5546-4A>C (n.5546-4A>C) n.4220-4A>C c.545-4A>C (n.545-4A>C) c.*1309-4A>C (n.*1309-4A>C) c.853-4A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48448897T= | CA2175498642 | FBN1 | c.5546-4A= (n.5546-4A=) n.4220-4A= c.545-4A= (n.545-4A=) c.*1309-4A= (n.*1309-4A=) c.853-4A= | |
| 15 | g.48448897_48448898insCCTGTGGAGGTG | CA2628347977 | FBN1 | c.5546-5_5546-4insCACCTCCACAGG (n.5546-5_5546-4insCACCTCCACAGG) n.4220-5_4220-4insCACCTCCACAGG c.545-5_545-4insCACCTCCACAGG (n.545-5_545-4insCACCTCCACAGG) c.*1309-5_*1309-4insCACCTCCACAGG (n.*1309-5_*1309-4insCACCTCCACAGG) c.853-5_853-4insCACCTCCACAGG | gnomAD v4 |
| 15 | g.48448897_48448898insCCTGTGGAGGTGAAGCGGTAGCCGGGCTTACAGTCACAGCGGTAGCTGCCTGC | CA2628347979 | FBN1 | c.5546-5_5546-4insGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGG (n.5546-5_5546-4insGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGG) n.4220-5_4220-4insGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGG c.545-5_545-4insGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGG (n.545-5_545-4insGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGG) c.*1309-5_*1309-4insGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGG (n.*1309-5_*1309-4insGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGG) c.853-5_853-4insGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGG | gnomAD v4 |
| 15 | g.48448897_48448898insCCTGTGGAGGTGAAGCGGTAGCCGGGCTTACAGTCACAGCGGTAGCTGCCTGCAGTGTTGATGC | CA2628347978 | FBN1 | c.5546-5_5546-4insGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGG (n.5546-5_5546-4insGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGG) n.4220-5_4220-4insGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGG c.545-5_545-4insGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGG (n.545-5_545-4insGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGG) c.*1309-5_*1309-4insGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGG (n.*1309-5_*1309-4insGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGG) c.853-5_853-4insGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGG | gnomAD v4 |
| 15 | g.48448899A= | CA2175498647 | FBN1 | c.5546-6T= (n.5546-6T=) n.4220-6T= c.545-6T= (n.545-6T=) c.*1309-6T= (n.*1309-6T=) c.853-6T= | |
| 15 | g.48448899A>G | CA2541075314 | FBN1 | c.5546-6T>C (n.5546-6T>C) n.4220-6T>C c.545-6T>C (n.545-6T>C) c.*1309-6T>C (n.*1309-6T>C) c.853-6T>C | |
| 15 | g.48448899A>T | CA2175498649 | FBN1 | c.5546-6T>A (n.5546-6T>A) n.4220-6T>A c.545-6T>A (n.545-6T>A) c.*1309-6T>A (n.*1309-6T>A) c.853-6T>A | dbSNP |
| 15 | g.48448899_48448900insGCGGTAGCCGGGCTTACAGTCACAGCGGTAGCTGCCTGCAGTGTTG | CA2628347980 | FBN1 | c.5546-7_5546-6insCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGC (n.5546-7_5546-6insCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGC) n.4220-7_4220-6insCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGC c.545-7_545-6insCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGC (n.545-7_545-6insCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGC) c.*1309-7_*1309-6insCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGC (n.*1309-7_*1309-6insCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGC) c.853-7_853-6insCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGC | gnomAD v4 |
| 15 | g.48448901T>A | CA2740096639 | FBN1 | c.5546-8A>T (n.5546-8A>T) n.4220-8A>T c.545-8A>T (n.545-8A>T) c.*1309-8A>T (n.*1309-8A>T) c.853-8A>T | ClinVar |
| 15 | g.48448904G>A | CA2531634522 | FBN1 | c.5546-11C>T (n.5546-11C>T) n.4220-11C>T c.545-11C>T (n.545-11C>T) c.*1309-11C>T (n.*1309-11C>T) c.853-11C>T | dbSNP |
| 15 | g.48448904G>C | CA2175498654 | FBN1 | c.5546-11C>G (n.5546-11C>G) n.4220-11C>G c.545-11C>G (n.545-11C>G) c.*1309-11C>G (n.*1309-11C>G) c.853-11C>G | ClinVar dbSNP |
| 15 | g.48448904G= | CA2175498652 | FBN1 | c.5546-11C= (n.5546-11C=) n.4220-11C= c.545-11C= (n.545-11C=) c.*1309-11C= (n.*1309-11C=) c.853-11C= | |
| 15 | g.48448905A>G | CA2628347981 | FBN1 | c.5546-12T>C (n.5546-12T>C) n.4220-12T>C c.545-12T>C (n.545-12T>C) c.*1309-12T>C (n.*1309-12T>C) c.853-12T>C | gnomAD v4 |
| 15 | g.48448906A>G | CA2804070698 | FBN1 | c.5546-13T>C (n.5546-13T>C) n.4220-13T>C c.545-13T>C (n.545-13T>C) c.*1309-13T>C (n.*1309-13T>C) c.853-13T>C | |
| 15 | g.48448908C>T | CA2628347982 | FBN1 | c.5546-15G>A (n.5546-15G>A) n.4220-15G>A c.545-15G>A (n.545-15G>A) c.*1309-15G>A (n.*1309-15G>A) c.853-15G>A | ClinVar gnomAD v4 |
| 15 | g.48448910T>C | CA055197 | FBN1 | c.5546-17A>G (n.5546-17A>G) n.4220-17A>G c.545-17A>G (n.545-17A>G) c.*1309-17A>G (n.*1309-17A>G) c.853-17A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48448910T= | CA2175498657 | FBN1 | c.5546-17A= (n.5546-17A=) n.4220-17A= c.545-17A= (n.545-17A=) c.*1309-17A= (n.*1309-17A=) c.853-17A= | |
| 15 | g.48448911C>A | CA490023429 | FBN1 | c.5546-18G>T (n.5546-18G>T) n.4220-18G>T c.545-18G>T (n.545-18G>T) c.*1309-18G>T (n.*1309-18G>T) c.853-18G>T | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48448911C= | CA2175498659 | FBN1 | c.5546-18G= (n.5546-18G=) n.4220-18G= c.545-18G= (n.545-18G=) c.*1309-18G= (n.*1309-18G=) c.853-18G= | |
| 15 | g.48448911C>G | CA2542601684 | FBN1 | c.5546-18G>C (n.5546-18G>C) n.4220-18G>C c.545-18G>C (n.545-18G>C) c.*1309-18G>C (n.*1309-18G>C) c.853-18G>C | |
| 15 | g.48448911C>T | CA2175498663 | FBN1 | c.5546-18G>A (n.5546-18G>A) n.4220-18G>A c.545-18G>A (n.545-18G>A) c.*1309-18G>A (n.*1309-18G>A) c.853-18G>A | dbSNP |
| 15 | g.48448912_48448913del | CA2628347983 | FBN1 | c.5546-20_5546-19del (n.5546-20_5546-19del) n.4220-20_4220-19del c.545-20_545-19del (n.545-20_545-19del) c.*1309-20_*1309-19del (n.*1309-20_*1309-19del) c.853-20_853-19del | gnomAD v4 |
| 15 | g.48448913T>C | CA2628347984 | FBN1 | c.5546-20A>G (n.5546-20A>G) n.4220-20A>G c.545-20A>G (n.545-20A>G) c.*1309-20A>G (n.*1309-20A>G) c.853-20A>G | gnomAD v4 |
| 15 | g.48448914A>C | CA2628347985 | FBN1 | c.5546-21T>G (n.5546-21T>G) n.4220-21T>G c.545-21T>G (n.545-21T>G) c.*1309-21T>G (n.*1309-21T>G) c.853-21T>G | gnomAD v4 |
| 15 | g.48448916G>A | CA2530865211 | FBN1 | c.5546-23C>T (n.5546-23C>T) n.4220-23C>T c.545-23C>T (n.545-23C>T) c.*1309-23C>T (n.*1309-23C>T) c.853-23C>T | |
| 15 | g.48448916G>C | CA617837662 | FBN1 | c.5546-23C>G (n.5546-23C>G) n.4220-23C>G c.545-23C>G (n.545-23C>G) c.*1309-23C>G (n.*1309-23C>G) c.853-23C>G | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48448916G= | CA2175498665 | FBN1 | c.5546-23C= (n.5546-23C=) n.4220-23C= c.545-23C= (n.545-23C=) c.*1309-23C= (n.*1309-23C=) c.853-23C= | |
| 15 | g.48448917T>C | CA2628347986 | FBN1 | c.5546-24A>G (n.5546-24A>G) n.4220-24A>G c.545-24A>G (n.545-24A>G) c.*1309-24A>G (n.*1309-24A>G) c.853-24A>G | gnomAD v4 |
| 15 | g.48448918G>A | CA2628347987 | FBN1 | c.5546-25C>T (n.5546-25C>T) n.4220-25C>T c.545-25C>T (n.545-25C>T) c.*1309-25C>T (n.*1309-25C>T) c.853-25C>T | gnomAD v4 |
| 15 | g.48448918G>C | CA2804070699 | FBN1 | c.5546-25C>G (n.5546-25C>G) n.4220-25C>G c.545-25C>G (n.545-25C>G) c.*1309-25C>G (n.*1309-25C>G) c.853-25C>G | |
| 15 | g.48448918G>T | CA2628347988 | FBN1 | c.5546-25C>A (n.5546-25C>A) n.4220-25C>A c.545-25C>A (n.545-25C>A) c.*1309-25C>A (n.*1309-25C>A) c.853-25C>A | gnomAD v4 |
| 15 | g.48448919A>G | CA2533302986 | FBN1 | c.5546-26T>C (n.5546-26T>C) n.4220-26T>C c.545-26T>C (n.545-26T>C) c.*1309-26T>C (n.*1309-26T>C) c.853-26T>C | |
| 15 | g.48448920G>A | CA2514212786 | FBN1 | c.5546-27C>T (n.5546-27C>T) n.4220-27C>T c.545-27C>T (n.545-27C>T) c.*1309-27C>T (n.*1309-27C>T) c.853-27C>T | |
| 15 | g.48448920G= | CA2175498667 | FBN1 | c.5546-27C= (n.5546-27C=) n.4220-27C= c.545-27C= (n.545-27C=) c.*1309-27C= (n.*1309-27C=) c.853-27C= | |
| 15 | g.48448920G>T | CA055203 | FBN1 | c.5546-27C>A (n.5546-27C>A) n.4220-27C>A c.545-27C>A (n.545-27C>A) c.*1309-27C>A (n.*1309-27C>A) c.853-27C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48448923C= | CA2175498670 | FBN1 | c.5546-30G= (n.5546-30G=) n.4220-30G= c.545-30G= (n.545-30G=) c.*1309-30G= (n.*1309-30G=) c.853-30G= | |
| 15 | g.48448923C>T | CA713396797 | FBN1 | c.5546-30G>A (n.5546-30G>A) n.4220-30G>A c.545-30G>A (n.545-30G>A) c.*1309-30G>A (n.*1309-30G>A) c.853-30G>A | dbSNP gnomAD v4 |
| 15 | g.48448924T>A | CA2628347989 | FBN1 | c.5546-31A>T (n.5546-31A>T) n.4220-31A>T c.545-31A>T (n.545-31A>T) c.*1309-31A>T (n.*1309-31A>T) c.853-31A>T | gnomAD v4 |
| 15 | g.48448924T>G | CA2628347990 | FBN1 | c.5546-31A>C (n.5546-31A>C) n.4220-31A>C c.545-31A>C (n.545-31A>C) c.*1309-31A>C (n.*1309-31A>C) c.853-31A>C | gnomAD v4 |
| 15 | g.48448925del | CA2575716978 | FBN1 | c.5546-31del (n.5546-31del) n.4220-31del c.545-31del (n.545-31del) c.*1309-31del (n.*1309-31del) c.853-31del | |
| 15 | g.48448925T>C | CA2628347991 | FBN1 | c.5546-32A>G (n.5546-32A>G) n.4220-32A>G c.545-32A>G (n.545-32A>G) c.*1309-32A>G (n.*1309-32A>G) c.853-32A>G | gnomAD v4 |
| 15 | g.48448926A= | CA2175498673 | FBN1 | c.5546-33T= (n.5546-33T=) n.4220-33T= c.545-33T= (n.545-33T=) c.*1309-33T= (n.*1309-33T=) c.853-33T= | |
| 15 | g.48448926A>C | CA2175498675 | FBN1 | c.5546-33T>G (n.5546-33T>G) n.4220-33T>G c.545-33T>G (n.545-33T>G) c.*1309-33T>G (n.*1309-33T>G) c.853-33T>G | dbSNP |
| 15 | g.48448926A>G | CA055204 | FBN1 | c.5546-33T>C (n.5546-33T>C) n.4220-33T>C c.545-33T>C (n.545-33T>C) c.*1309-33T>C (n.*1309-33T>C) c.853-33T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48448927del | CA2575716982 | FBN1 | c.5546-34del (n.5546-34del) n.4220-34del c.545-34del (n.545-34del) c.*1309-34del (n.*1309-34del) c.853-34del | |
| 15 | g.48448927G>A | CA713396802 | FBN1 | c.5546-34C>T (n.5546-34C>T) n.4220-34C>T c.545-34C>T (n.545-34C>T) c.*1309-34C>T (n.*1309-34C>T) c.853-34C>T | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48448927G= | CA2175498685 | FBN1 | c.5546-34C= (n.5546-34C=) n.4220-34C= c.545-34C= (n.545-34C=) c.*1309-34C= (n.*1309-34C=) c.853-34C= | |
| 15 | g.48448928A>G | CA2628347992 | FBN1 | c.5546-35T>C (n.5546-35T>C) n.4220-35T>C c.545-35T>C (n.545-35T>C) c.*1309-35T>C (n.*1309-35T>C) c.853-35T>C | gnomAD v4 |
| 15 | g.48448930G>C | CA2628347993 | FBN1 | c.5546-37C>G (n.5546-37C>G) n.4220-37C>G c.545-37C>G (n.545-37C>G) c.*1309-37C>G (n.*1309-37C>G) c.853-37C>G | gnomAD v4 |
| 15 | g.48448930G>T | CA2628347994 | FBN1 | c.5546-37C>A (n.5546-37C>A) n.4220-37C>A c.545-37C>A (n.545-37C>A) c.*1309-37C>A (n.*1309-37C>A) c.853-37C>A | gnomAD v4 |
| 15 | g.48448932C>A | CA2628347995 | FBN1 | c.5546-39G>T (n.5546-39G>T) n.4220-39G>T c.545-39G>T (n.545-39G>T) c.*1309-39G>T (n.*1309-39G>T) c.853-39G>T | gnomAD v4 |
| 15 | g.48448937T>A | CA2548581605 | FBN1 | c.5546-44A>T (n.5546-44A>T) n.4220-44A>T c.545-44A>T (n.545-44A>T) c.*1309-44A>T (n.*1309-44A>T) c.853-44A>T | |
| 15 | g.48448937T>C | CA2529067788 | FBN1 | c.5546-44A>G (n.5546-44A>G) n.4220-44A>G c.545-44A>G (n.545-44A>G) c.*1309-44A>G (n.*1309-44A>G) c.853-44A>G | gnomAD v4 |
| 15 | g.48448938A= | CA2175498690 | FBN1 | c.5546-45T= (n.5546-45T=) n.4220-45T= c.545-45T= (n.545-45T=) c.*1309-45T= (n.*1309-45T=) c.853-45T= | |
| 15 | g.48448938A>C | CA2555398410 | FBN1 | c.5546-45T>G (n.5546-45T>G) n.4220-45T>G c.545-45T>G (n.545-45T>G) c.*1309-45T>G (n.*1309-45T>G) c.853-45T>G | |
| 15 | g.48448938A>G | CA055214 | FBN1 | c.5546-45T>C (n.5546-45T>C) n.4220-45T>C c.545-45T>C (n.545-45T>C) c.*1309-45T>C (n.*1309-45T>C) c.853-45T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48448939T>A | CA2545555702 | FBN1 | c.5546-46A>T (n.5546-46A>T) n.4220-46A>T c.545-46A>T (n.545-46A>T) c.*1309-46A>T (n.*1309-46A>T) c.853-46A>T | |
| 15 | g.48448939T>C | CA617837663 | FBN1 | c.5546-46A>G (n.5546-46A>G) n.4220-46A>G c.545-46A>G (n.545-46A>G) c.*1309-46A>G (n.*1309-46A>G) c.853-46A>G | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48448939T= | CA2175498692 | FBN1 | c.5546-46A= (n.5546-46A=) n.4220-46A= c.545-46A= (n.545-46A=) c.*1309-46A= (n.*1309-46A=) c.853-46A= | |
| 15 | g.48448940A>G | CA2628347997 | FBN1 | c.5546-47T>C (n.5546-47T>C) n.4220-47T>C c.545-47T>C (n.545-47T>C) c.*1309-47T>C (n.*1309-47T>C) c.853-47T>C | gnomAD v4 |
| 15 | g.48448941del | CA2628347996 | FBN1 | c.5546-47del (n.5546-47del) n.4220-47del c.545-47del (n.545-47del) c.*1309-47del (n.*1309-47del) c.853-47del | gnomAD v4 |
| 15 | g.48448941A= | CA2175498695 | FBN1 | c.5546-48T= (n.5546-48T=) n.4220-48T= c.545-48T= (n.545-48T=) c.*1309-48T= (n.*1309-48T=) c.853-48T= | |
| 15 | g.48448941A>G | CA055218 | FBN1 | c.5546-48T>C (n.5546-48T>C) n.4220-48T>C c.545-48T>C (n.545-48T>C) c.*1309-48T>C (n.*1309-48T>C) c.853-48T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48448942T>C | CA2541459368 | FBN1 | c.5546-49A>G (n.5546-49A>G) n.4220-49A>G c.545-49A>G (n.545-49A>G) c.*1309-49A>G (n.*1309-49A>G) c.853-49A>G | gnomAD v4 |
| 15 | g.48448943T>C | CA713396809 | FBN1 | c.5546-50A>G (n.5546-50A>G) n.4220-50A>G c.545-50A>G (n.545-50A>G) c.*1309-50A>G (n.*1309-50A>G) c.853-50A>G | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48448943T>G | CA055223 | FBN1 | c.5546-50A>C (n.5546-50A>C) n.4220-50A>C c.545-50A>C (n.545-50A>C) c.*1309-50A>C (n.*1309-50A>C) c.853-50A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48448943T= | CA2175498703 | FBN1 | c.5546-50A= (n.5546-50A=) n.4220-50A= c.545-50A= (n.545-50A=) c.*1309-50A= (n.*1309-50A=) c.853-50A= | |
| 15 | g.48448944G>T | CA2628347998 | FBN1 | c.5546-51C>A (n.5546-51C>A) n.4220-51C>A c.545-51C>A (n.545-51C>A) c.*1309-51C>A (n.*1309-51C>A) c.853-51C>A | gnomAD v4 |
| 15 | g.48448945A= | CA2175498714 | FBN1 | c.5546-52T= (n.5546-52T=) n.4220-52T= c.545-52T= (n.545-52T=) c.*1309-52T= (n.*1309-52T=) c.853-52T= | |
| 15 | g.48448945A>C | CA713396814 | FBN1 | c.5546-52T>G (n.5546-52T>G) n.4220-52T>G c.545-52T>G (n.545-52T>G) c.*1309-52T>G (n.*1309-52T>G) c.853-52T>G | dbSNP |
| 15 | g.48448945A>G | CA617837664 | FBN1 | c.5546-52T>C (n.5546-52T>C) n.4220-52T>C c.545-52T>C (n.545-52T>C) c.*1309-52T>C (n.*1309-52T>C) c.853-52T>C | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48448946A= | CA2175498716 | FBN1 | c.5546-53T= (n.5546-53T=) n.4220-53T= c.545-53T= (n.545-53T=) c.*1309-53T= (n.*1309-53T=) c.853-53T= | |
| 15 | g.48448946A>G | CA969551196 | FBN1 | c.5546-53T>C (n.5546-53T>C) n.4220-53T>C c.545-53T>C (n.545-53T>C) c.*1309-53T>C (n.*1309-53T>C) c.853-53T>C | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48448947T>C | CA2628347999 | FBN1 | c.5546-54A>G (n.5546-54A>G) n.4220-54A>G c.545-54A>G (n.545-54A>G) c.*1309-54A>G (n.*1309-54A>G) c.853-54A>G | gnomAD v4 |
| 15 | g.48448948_48448949del | CA2628348000 | FBN1 | c.5546-56_5546-55del (n.5546-56_5546-55del) n.4220-56_4220-55del c.545-56_545-55del (n.545-56_545-55del) c.*1309-56_*1309-55del (n.*1309-56_*1309-55del) c.853-56_853-55del | gnomAD v4 |
| 15 | g.48448950C= | CA2175498720 | FBN1 | c.5546-57G= (n.5546-57G=) n.4220-57G= c.545-57G= (n.545-57G=) c.*1309-57G= (n.*1309-57G=) c.853-57G= | |
| 15 | g.48448950C>T | CA269535097 | FBN1 | c.5546-57G>A (n.5546-57G>A) n.4220-57G>A c.545-57G>A (n.545-57G>A) c.*1309-57G>A (n.*1309-57G>A) c.853-57G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48448951T>A | CA2628348001 | FBN1 | c.5546-58A>T (n.5546-58A>T) n.4220-58A>T c.545-58A>T (n.545-58A>T) c.*1309-58A>T (n.*1309-58A>T) c.853-58A>T | gnomAD v4 |