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.48483833_48483840del | CA2580089557 | FBN1 | c.3823_3830del (p.Met1275LeufsTer6) n.2497_2504del c.637-9183_637-9176del (n.637-9183_637-9176del) | ClinVar |
| 15 | g.48483831C>A | CA392323599 | FBN1 | c.3825G>T (p.Met1275Ile) n.2499G>T c.637-9181G>T (n.637-9181G>T) | |
| 15 | g.48483831C>G | CA392323601 | FBN1 | c.3825G>C (p.Met1275Ile) n.2499G>C c.637-9181G>C (n.637-9181G>C) | |
| 15 | g.48483831C>T | CA392323604 | FBN1 | c.3825G>A (p.Met1275Ile) n.2499G>A c.637-9181G>A (n.637-9181G>A) | |
| 15 | g.48483832A>C | CA392323606 | FBN1 | c.3824T>G (p.Met1275Arg) n.2498T>G c.637-9182T>G (n.637-9182T>G) | |
| 15 | g.48483832A>G | CA392323608 | FBN1 | c.3824T>C (p.Met1275Thr) n.2498T>C c.637-9182T>C (n.637-9182T>C) | |
| 15 | g.48483832A>T | CA392323616 | FBN1 | c.3824T>A (p.Met1275Lys) n.2498T>A c.637-9182T>A (n.637-9182T>A) | |
| 15 | g.48483833T>A | CA392323618 | FBN1 | c.3823A>T (p.Met1275Leu) n.2497A>T c.637-9183A>T (n.637-9183A>T) | |
| 15 | g.48483833T>C | CA392323622 | FBN1 | c.3823A>G (p.Met1275Val) n.2497A>G c.637-9183A>G (n.637-9183A>G) | ClinVar dbSNP |
| 15 | g.48483833T>G | CA051554 | FBN1 | c.3823A>C (p.Met1275Leu) n.2497A>C c.637-9183A>C (n.637-9183A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48483833T= | CA2175509397 | FBN1 | c.3823A= (p.Met1275=) n.2497A= c.637-9183A= (n.637-9183A=) | |
| 15 | g.48483834G>A | CA490016943 | FBN1 | c.3822C>T (p.Asp1274=) n.2496C>T c.637-9184C>T (n.637-9184C>T) | |
| 15 | g.48483834G>C | CA392323624 | FBN1 | c.3822C>G (p.Asp1274Glu) n.2496C>G c.637-9184C>G (n.637-9184C>G) | |
| 15 | g.48483834G>T | CA392323625 | FBN1 | c.3822C>A (p.Asp1274Glu) n.2496C>A c.637-9184C>A (n.637-9184C>A) | gnomAD v4 |
| 15 | g.48483835del | CA2580089559 | FBN1 | c.3821del (p.Asp1274AlafsTer2) n.2495del c.637-9185del (n.637-9185del) | ClinVar |
| 15 | g.48483835T>A | CA392323628 | FBN1 | c.3821A>T (p.Asp1274Val) n.2495A>T c.637-9185A>T (n.637-9185A>T) | |
| 15 | g.48483835T>C | CA392323630 | FBN1 | c.3821A>G (p.Asp1274Gly) n.2495A>G c.637-9185A>G (n.637-9185A>G) | gnomAD v4 |
| 15 | g.48483835T>G | CA392323631 | FBN1 | c.3821A>C (p.Asp1274Ala) n.2495A>C c.637-9185A>C (n.637-9185A>C) | |
| 15 | g.48483836C>A | CA392323632 | FBN1 | c.3820G>T (p.Asp1274Tyr) n.2494G>T c.637-9186G>T (n.637-9186G>T) | |
| 15 | g.48483836C>G | CA392323633 | FBN1 | c.3820G>C (p.Asp1274His) n.2494G>C c.637-9186G>C (n.637-9186G>C) | |
| 15 | g.48483836C>T | CA392323635 | FBN1 | c.3820G>A (p.Asp1274Asn) n.2494G>A c.637-9186G>A (n.637-9186G>A) | |
| 15 | g.48483837T>A | CA392323637 | FBN1 | c.3819A>T (p.Glu1273Asp) n.2493A>T c.637-9187A>T (n.637-9187A>T) | |
| 15 | g.48483837T>C | CA490016953 | FBN1 | c.3819A>G (p.Glu1273=) n.2493A>G c.637-9187A>G (n.637-9187A>G) | |
| 15 | g.48483837T>G | CA392323639 | FBN1 | c.3819A>C (p.Glu1273Asp) n.2493A>C c.637-9187A>C (n.637-9187A>C) | |
| 15 | g.48483838T>A | CA392323644 | FBN1 | c.3818A>T (p.Glu1273Val) n.2492A>T c.637-9188A>T (n.637-9188A>T) | |
| 15 | g.48483838T>C | CA392323641 | FBN1 | c.3818A>G (p.Glu1273Gly) n.2492A>G c.637-9188A>G (n.637-9188A>G) | |
| 15 | g.48483838T>G | CA392323642 | FBN1 | c.3818A>C (p.Glu1273Ala) n.2492A>C c.637-9188A>C (n.637-9188A>C) | |
| 15 | g.48483839C>A | CA392323647 | FBN1 | c.3817G>T (p.Glu1273Ter) n.2491G>T c.637-9189G>T (n.637-9189G>T) | |
| 15 | g.48483839C>G | CA392323658 | FBN1 | c.3817G>C (p.Glu1273Gln) n.2491G>C c.637-9189G>C (n.637-9189G>C) | |
| 15 | g.48483839C>T | CA392323655 | FBN1 | c.3817G>A (p.Glu1273Lys) n.2491G>A c.637-9189G>A (n.637-9189G>A) | |
| 15 | g.48483840del | CA2573150789 | FBN1 | c.3816del (p.Glu1273LysfsTer3) n.2490del c.637-9190del (n.637-9190del) | ClinVar dbSNP |
| 15 | g.48483840A>C | CA490016960 | FBN1 | c.3816T>G (p.Ser1272=) n.2490T>G c.637-9190T>G (n.637-9190T>G) | |
| 15 | g.48483840A>G | CA490016961 | FBN1 | c.3816T>C (p.Ser1272=) n.2490T>C c.637-9190T>C (n.637-9190T>C) | |
| 15 | g.48483840A>T | CA490016962 | FBN1 | c.3816T>A (p.Ser1272=) n.2490T>A c.637-9190T>A (n.637-9190T>A) | |
| 15 | g.48483840_48483841delinsAG | CA2175509406 | FBN1 | c.3815_3816delinsCT (p.Ser1272=) n.2489_2490delinsCT c.637-9191_637-9190delinsCT (n.637-9191_637-9190delinsCT) | |
| 15 | g.48483841del | CA658798366 | FBN1 | c.3815del (p.Ser1272LeufsTer4) n.2489del c.637-9191del (n.637-9191del) | ClinVar dbSNP |
| 15 | g.48483841G>A | CA392323661 | FBN1 | c.3815C>T (p.Ser1272Phe) n.2489C>T c.637-9191C>T (n.637-9191C>T) | |
| 15 | g.48483841G>C | CA392323663 | FBN1 | c.3815C>G (p.Ser1272Cys) n.2489C>G c.637-9191C>G (n.637-9191C>G) | |
| 15 | g.48483841G= | CA2175509415 | FBN1 | c.3815C= (p.Ser1272=) n.2489C= c.637-9191C= (n.637-9191C=) | |
| 15 | g.48483841G>T | CA392323665 | FBN1 | c.3815C>A (p.Ser1272Tyr) n.2489C>A c.637-9191C>A (n.637-9191C>A) | ClinVar dbSNP |
| 15 | g.48483842A>C | CA392323668 | FBN1 | c.3814T>G (p.Ser1272Ala) n.2488T>G c.637-9192T>G (n.637-9192T>G) | |
| 15 | g.48483842A>G | CA392323671 | FBN1 | c.3814T>C (p.Ser1272Pro) n.2488T>C c.637-9192T>C (n.637-9192T>C) | |
| 15 | g.48483842A>T | CA392323673 | FBN1 | c.3814T>A (p.Ser1272Thr) n.2488T>A c.637-9192T>A (n.637-9192T>A) | |
| 15 | g.48483843T>A | CA490016970 | FBN1 | c.3813A>T (p.Ala1271=) n.2487A>T c.637-9193A>T (n.637-9193A>T) | gnomAD v4 |
| 15 | g.48483843T>C | CA490016973 | FBN1 | c.3813A>G (p.Ala1271=) n.2487A>G c.637-9193A>G (n.637-9193A>G) | |
| 15 | g.48483843T>G | CA490016975 | FBN1 | c.3813A>C (p.Ala1271=) n.2487A>C c.637-9193A>C (n.637-9193A>C) | |
| 15 | g.48483844G>A | CA392323680 | FBN1 | c.3812C>T (p.Ala1271Val) n.2486C>T c.637-9194C>T (n.637-9194C>T) | |
| 15 | g.48483844G>C | CA392323678 | FBN1 | c.3812C>G (p.Ala1271Gly) n.2486C>G c.637-9194C>G (n.637-9194C>G) | |
| 15 | g.48483844G>T | CA392323676 | FBN1 | c.3812C>A (p.Ala1271Glu) n.2486C>A c.637-9194C>A (n.637-9194C>A) | |
| 15 | g.48483845C>A | CA392323683 | FBN1 | c.3811G>T (p.Ala1271Ser) n.2485G>T c.637-9195G>T (n.637-9195G>T) | gnomAD v4 |
| 15 | g.48483845C= | CA2175509421 | FBN1 | c.3811G= (p.Ala1271=) n.2485G= c.637-9195G= (n.637-9195G=) | |
| 15 | g.48483845C>G | CA392323685 | FBN1 | c.3811G>C (p.Ala1271Pro) n.2485G>C c.637-9195G>C (n.637-9195G>C) | |
| 15 | g.48483845C>T | CA269525999 | FBN1 | c.3811G>A (p.Ala1271Thr) n.2485G>A c.637-9195G>A (n.637-9195G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48483846C>A | CA392323690 | FBN1 | c.3810G>T (p.Met1270Ile) n.2484G>T c.637-9196G>T (n.637-9196G>T) | |
| 15 | g.48483846C>G | CA392323692 | FBN1 | c.3810G>C (p.Met1270Ile) n.2484G>C c.637-9196G>C (n.637-9196G>C) | |
| 15 | g.48483846C>T | CA392323694 | FBN1 | c.3810G>A (p.Met1270Ile) n.2484G>A c.637-9196G>A (n.637-9196G>A) | |
| 15 | g.48483847A>C | CA392323698 | FBN1 | c.3809T>G (p.Met1270Arg) n.2483T>G c.637-9197T>G (n.637-9197T>G) | |
| 15 | g.48483847A>G | CA392323702 | FBN1 | c.3809T>C (p.Met1270Thr) n.2483T>C c.637-9197T>C (n.637-9197T>C) | |
| 15 | g.48483847A>T | CA392323700 | FBN1 | c.3809T>A (p.Met1270Lys) n.2483T>A c.637-9197T>A (n.637-9197T>A) | |
| 15 | g.48483848T>A | CA392323705 | FBN1 | c.3808A>T (p.Met1270Leu) n.2482A>T c.637-9198A>T (n.637-9198A>T) | ClinVar gnomAD v4 |
| 15 | g.48483848T>C | CA392323707 | FBN1 | c.3808A>G (p.Met1270Val) n.2482A>G c.637-9198A>G (n.637-9198A>G) | |
| 15 | g.48483848T>G | CA392323709 | FBN1 | c.3808A>C (p.Met1270Leu) n.2482A>C c.637-9198A>C (n.637-9198A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48483848T= | CA2175509424 | FBN1 | c.3808A= (p.Met1270=) n.2482A= c.637-9198A= (n.637-9198A=) | |
| 15 | g.48483849G>A | CA490016993 | FBN1 | c.3807C>T (p.Phe1269=) n.2481C>T c.637-9199C>T (n.637-9199C>T) | |
| 15 | g.48483849G>C | CA392323713 | FBN1 | c.3807C>G (p.Phe1269Leu) n.2481C>G c.637-9199C>G (n.637-9199C>G) | |
| 15 | g.48483849G>T | CA392323714 | FBN1 | c.3807C>A (p.Phe1269Leu) n.2481C>A c.637-9199C>A (n.637-9199C>A) | gnomAD v4 |
| 15 | g.48483850A>C | CA392323717 | FBN1 | c.3806T>G (p.Phe1269Cys) n.2480T>G c.637-9200T>G (n.637-9200T>G) | |
| 15 | g.48483850A>G | CA392323719 | FBN1 | c.3806T>C (p.Phe1269Ser) n.2480T>C c.637-9200T>C (n.637-9200T>C) | ClinVar gnomAD v4 |
| 15 | g.48483850A>T | CA392323721 | FBN1 | c.3806T>A (p.Phe1269Tyr) n.2480T>A c.637-9200T>A (n.637-9200T>A) | |
| 15 | g.48483851A>C | CA392323725 | FBN1 | c.3805T>G (p.Phe1269Val) n.2479T>G c.637-9201T>G (n.637-9201T>G) | |
| 15 | g.48483851A>G | CA392323727 | FBN1 | c.3805T>C (p.Phe1269Leu) n.2479T>C c.637-9201T>C (n.637-9201T>C) | |
| 15 | g.48483851A>T | CA392323729 | FBN1 | c.3805T>A (p.Phe1269Ile) n.2479T>A c.637-9201T>A (n.637-9201T>A) | |
| 15 | g.48483852del | CA2573054038 | FBN1 | c.3804del (p.Phe1269SerfsTer7) n.2478del c.637-9202del (n.637-9202del) | ClinVar dbSNP |
| 15 | g.48483852T>A | CA490017004 | FBN1 | c.3804A>T (p.Gly1268=) n.2478A>T c.637-9202A>T (n.637-9202A>T) | |
| 15 | g.48483852T>C | CA490017003 | FBN1 | c.3804A>G (p.Gly1268=) n.2478A>G c.637-9202A>G (n.637-9202A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48483852T>G | CA490017002 | FBN1 | c.3804A>C (p.Gly1268=) n.2478A>C c.637-9202A>C (n.637-9202A>C) | |
| 15 | g.48483852T= | CA2175509426 | FBN1 | c.3804A= (p.Gly1268=) n.2478A= c.637-9202A= (n.637-9202A=) | |
| 15 | g.48483853C>A | CA392323731 | FBN1 | c.3803G>T (p.Gly1268Val) n.2477G>T c.637-9203G>T (n.637-9203G>T) | |
| 15 | g.48483853C>G | CA392323736 | FBN1 | c.3803G>C (p.Gly1268Ala) n.2477G>C c.637-9203G>C (n.637-9203G>C) | |
| 15 | g.48483853C>T | CA392323734 | FBN1 | c.3803G>A (p.Gly1268Glu) n.2477G>A c.637-9203G>A (n.637-9203G>A) | |
| 15 | g.48483854C>A | CA392323738 | FBN1 | c.3802G>T (p.Gly1268Ter) n.2476G>T c.637-9204G>T (n.637-9204G>T) | |
| 15 | g.48483854C>G | CA392323740 | FBN1 | c.3802G>C (p.Gly1268Arg) n.2476G>C c.637-9204G>C (n.637-9204G>C) | |
| 15 | g.48483854C>T | CA392323742 | FBN1 | c.3802G>A (p.Gly1268Arg) n.2476G>A c.637-9204G>A (n.637-9204G>A) | COSMIC |
| 15 | g.48483855A= | CA2175509429 | FBN1 | c.3801T= (p.Asp1267=) n.2475T= c.637-9205T= (n.637-9205T=) | |
| 15 | g.48483855A>C | CA392323745 | FBN1 | c.3801T>G (p.Asp1267Glu) n.2475T>G c.637-9205T>G (n.637-9205T>G) | |
| 15 | g.48483855A>G | CA051550 | FBN1 | c.3801T>C (p.Asp1267=) n.2475T>C c.637-9205T>C (n.637-9205T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48483855A>T | CA392323749 | FBN1 | c.3801T>A (p.Asp1267Glu) n.2475T>A c.637-9205T>A (n.637-9205T>A) | |
| 15 | g.48483856T>A | CA392323752 | FBN1 | c.3800A>T (p.Asp1267Val) n.2474A>T c.637-9206A>T (n.637-9206A>T) | |
| 15 | g.48483856T>C | CA392323755 | FBN1 | c.3800A>G (p.Asp1267Gly) n.2474A>G c.637-9206A>G (n.637-9206A>G) | ClinVar |
| 15 | g.48483856T>G | CA392323757 | FBN1 | c.3800A>C (p.Asp1267Ala) n.2474A>C c.637-9206A>C (n.637-9206A>C) | |
| 15 | g.48483856_48483863delinsTCATAACA | CA2175509433 | FBN1 | c.3793_3800delinsTGTTATGA (p.Cys1265=) n.2467_2474delinsTGTTATGA c.637-9213_637-9206delinsTGTTATGA (n.637-9213_637-9206delinsTGTTATGA) | |
| 15 | g.48483857C>A | CA392323760 | FBN1 | c.3799G>T (p.Asp1267Tyr) n.2473G>T c.637-9207G>T (n.637-9207G>T) | |
| 15 | g.48483857C>G | CA392323761 | FBN1 | c.3799G>C (p.Asp1267His) n.2473G>C c.637-9207G>C (n.637-9207G>C) | |
| 15 | g.48483857C>T | CA392323763 | FBN1 | c.3799G>A (p.Asp1267Asn) n.2473G>A c.637-9207G>A (n.637-9207G>A) | |
| 15 | g.48483859_48483865del | CA658798367 | FBN1 | c.3793_3799del (p.Cys1265MetfsTer9) n.2467_2473del c.637-9213_637-9207del (n.637-9213_637-9207del) | ClinVar dbSNP |
| 15 | g.48483858A= | CA2175509445 | FBN1 | c.3798T= (p.Tyr1266=) n.2472T= c.637-9208T= (n.637-9208T=) | |
| 15 | g.48483858A>C | CA392323767 | FBN1 | c.3798T>G (p.Tyr1266Ter) n.2472T>G c.637-9208T>G (n.637-9208T>G) | |
| 15 | g.48483858A>G | CA051539 | FBN1 | c.3798T>C (p.Tyr1266=) n.2472T>C c.637-9208T>C (n.637-9208T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48483858A>T | CA269526018 | FBN1 | c.3798T>A (p.Tyr1266Ter) n.2472T>A c.637-9208T>A (n.637-9208T>A) | dbSNP |
| 15 | g.48483859T>A | CA014562 | FBN1 | c.3797A>T (p.Tyr1266Phe) n.2471A>T c.637-9209A>T (n.637-9209A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48483859T>C | CA392323772 | FBN1 | c.3797A>G (p.Tyr1266Cys) n.2471A>G c.637-9209A>G (n.637-9209A>G) | gnomAD v4 |
| 15 | g.48483859T>G | CA392323774 | FBN1 | c.3797A>C (p.Tyr1266Ser) n.2471A>C c.637-9209A>C (n.637-9209A>C) | |
| 15 | g.48483859T= | CA2175509452 | FBN1 | c.3797A= (p.Tyr1266=) n.2471A= c.637-9209A= (n.637-9209A=) | |
| 15 | g.48483859dup | CA2695220661 | FBN1 | c.3797dup (p.Tyr1266Ter) n.2471dup c.637-9209dup (n.637-9209dup) | |
| 15 | g.48483860A>C | CA392323776 | FBN1 | c.3796T>G (p.Tyr1266Asp) n.2470T>G c.637-9210T>G (n.637-9210T>G) | |
| 15 | g.48483860A>G | CA392323778 | FBN1 | c.3796T>C (p.Tyr1266His) n.2470T>C c.637-9210T>C (n.637-9210T>C) | |
| 15 | g.48483860A>T | CA392323780 | FBN1 | c.3796T>A (p.Tyr1266Asn) n.2470T>A c.637-9210T>A (n.637-9210T>A) | |
| 15 | g.48483862_48483866del | CA2695220662 | FBN1 | c.3792_3796del (p.Cys1265Ter) n.2466_2470del c.637-9214_637-9210del (n.637-9214_637-9210del) | |
| 15 | g.48483861A= | CA2175509463 | FBN1 | c.3795T= (p.Cys1265=) n.2469T= c.637-9211T= (n.637-9211T=) | |
| 15 | g.48483861A>C | CA392323782 | FBN1 | c.3795T>G (p.Cys1265Trp) n.2469T>G c.637-9211T>G (n.637-9211T>G) | |
| 15 | g.48483861A>G | CA490017019 | FBN1 | c.3795T>C (p.Cys1265=) n.2469T>C c.637-9211T>C (n.637-9211T>C) | |
| 15 | g.48483861A>T | CA392323784 | FBN1 | c.3795T>A (p.Cys1265Ter) n.2469T>A c.637-9211T>A (n.637-9211T>A) | ClinVar dbSNP |
| 15 | g.48483862C>A | CA392323787 | FBN1 | c.3794G>T (p.Cys1265Phe) n.2468G>T c.637-9212G>T (n.637-9212G>T) | ClinVar dbSNP |
| 15 | g.48483862C= | CA2175509470 | FBN1 | c.3794G= (p.Cys1265=) n.2468G= c.637-9212G= (n.637-9212G=) | |
| 15 | g.48483862C>G | CA392323789 | FBN1 | c.3794G>C (p.Cys1265Ser) n.2468G>C c.637-9212G>C (n.637-9212G>C) | ClinVar dbSNP |
| 15 | g.48483862C>T | CA392323791 | FBN1 | c.3794G>A (p.Cys1265Tyr) n.2468G>A c.637-9212G>A (n.637-9212G>A) | ClinVar |
| 15 | g.48483863del | CA2695220663 | FBN1 | c.3793del (p.Cys1265ValfsTer11) n.2467del c.637-9213del (n.637-9213del) | |
| 15 | g.48483863A= | CA2175509481 | FBN1 | c.3793T= (p.Cys1265=) n.2467T= c.637-9213T= (n.637-9213T=) | |
| 15 | g.48483863A>C | CA392323798 | FBN1 | c.3793T>G (p.Cys1265Gly) n.2467T>G c.637-9213T>G (n.637-9213T>G) | |
| 15 | g.48483863A>G | CA014552 | FBN1 | c.3793T>C (p.Cys1265Arg) n.2467T>C c.637-9213T>C (n.637-9213T>C) | ClinVar dbSNP |
| 15 | g.48483863A>T | CA392323794 | FBN1 | c.3793T>A (p.Cys1265Ser) n.2467T>A c.637-9213T>A (n.637-9213T>A) | |
| 15 | g.48483864C>A | CA392323803 | FBN1 | c.3792G>T (p.Leu1264Phe) n.2466G>T c.637-9214G>T (n.637-9214G>T) | |
| 15 | g.48483864C= | CA2175509488 | FBN1 | c.3792G= (p.Leu1264=) n.2466G= c.637-9214G= (n.637-9214G=) | |
| 15 | g.48483864C>G | CA392323801 | FBN1 | c.3792G>C (p.Leu1264Phe) n.2466G>C c.637-9214G>C (n.637-9214G>C) | |
| 15 | g.48483864C>T | CA490017033 | FBN1 | c.3792G>A (p.Leu1264=) n.2466G>A c.637-9214G>A (n.637-9214G>A) | dbSNP gnomAD v4 |
| 15 | g.48483865A>C | CA392323811 | FBN1 | c.3791T>G (p.Leu1264Trp) n.2465T>G c.637-9215T>G (n.637-9215T>G) | |
| 15 | g.48483865A>G | CA392323806 | FBN1 | c.3791T>C (p.Leu1264Ser) n.2465T>C c.637-9215T>C (n.637-9215T>C) | |
| 15 | g.48483865A>T | CA392323808 | FBN1 | c.3791T>A (p.Leu1264Ter) n.2465T>A c.637-9215T>A (n.637-9215T>A) | |
| 15 | g.48483866A>C | CA392323814 | FBN1 | c.3790T>G (p.Leu1264Val) n.2464T>G c.637-9216T>G (n.637-9216T>G) | |
| 15 | g.48483866A>G | CA490017037 | FBN1 | c.3790T>C (p.Leu1264=) n.2464T>C c.637-9216T>C (n.637-9216T>C) | |
| 15 | g.48483866A>T | CA392323816 | FBN1 | c.3790T>A (p.Leu1264Met) n.2464T>A c.637-9216T>A (n.637-9216T>A) | |
| 15 | g.48483867G>A | CA490017038 | FBN1 | c.3789C>T (p.Cys1263=) n.2463C>T c.637-9217C>T (n.637-9217C>T) | |
| 15 | g.48483867G>C | CA16042964 | FBN1 | c.3789C>G (p.Cys1263Trp) n.2463C>G c.637-9217C>G (n.637-9217C>G) | ClinVar dbSNP |
| 15 | g.48483867G= | CA2175509494 | FBN1 | c.3789C= (p.Cys1263=) n.2463C= c.637-9217C= (n.637-9217C=) | |
| 15 | g.48483867G>T | CA392323823 | FBN1 | c.3789C>A (p.Cys1263Ter) n.2463C>A c.637-9217C>A (n.637-9217C>A) | |
| 15 | g.48483868C>A | CA392323827 | FBN1 | c.3788G>T (p.Cys1263Phe) n.2462G>T c.637-9218G>T (n.637-9218G>T) | ClinVar gnomAD v4 |
| 15 | g.48483868C>G | CA392323829 | FBN1 | c.3788G>C (p.Cys1263Ser) n.2462G>C c.637-9218G>C (n.637-9218G>C) | |
| 15 | g.48483868C>T | CA392323831 | FBN1 | c.3788G>A (p.Cys1263Tyr) n.2462G>A c.637-9218G>A (n.637-9218G>A) | |
| 15 | g.48483869_48483870dup | CA2695220664 | FBN1 | c.3787_3788dup (p.Leu1264AlafsTer13) n.2461_2462dup c.637-9219_637-9218dup (n.637-9219_637-9218dup) | |
| 15 | g.48483869A>C | CA392323834 | FBN1 | c.3787T>G (p.Cys1263Gly) n.2461T>G c.637-9219T>G (n.637-9219T>G) | |
| 15 | g.48483869A>G | CA392323836 | FBN1 | c.3787T>C (p.Cys1263Arg) n.2461T>C c.637-9219T>C (n.637-9219T>C) | |
| 15 | g.48483869A>T | CA392323838 | FBN1 | c.3787T>A (p.Cys1263Ser) n.2461T>A c.637-9219T>A (n.637-9219T>A) | |
| 15 | g.48483870C>A | CA392323843 | FBN1 | c.3786G>T (p.Arg1262Ser) n.2460G>T c.637-9220G>T (n.637-9220G>T) | ClinVar dbSNP |
| 15 | g.48483870C= | CA2175509507 | FBN1 | c.3786G= (p.Arg1262=) n.2460G= c.637-9220G= (n.637-9220G=) | |
| 15 | g.48483870C>G | CA392323840 | FBN1 | c.3786G>C (p.Arg1262Ser) n.2460G>C c.637-9220G>C (n.637-9220G>C) | |
| 15 | g.48483870C>T | CA490017055 | FBN1 | c.3786G>A (p.Arg1262=) n.2460G>A c.637-9220G>A (n.637-9220G>A) | ClinVar dbSNP |
| 15 | g.48483871C>A | CA392323845 | FBN1 | c.3785G>T (p.Arg1262Met) n.2459G>T c.637-9221G>T (n.637-9221G>T) | |
| 15 | g.48483871C= | CA2175509516 | FBN1 | c.3785G= (p.Arg1262=) n.2459G= c.637-9221G= (n.637-9221G=) | |
| 15 | g.48483871C>G | CA392323848 | FBN1 | c.3785G>C (p.Arg1262Thr) n.2459G>C c.637-9221G>C (n.637-9221G>C) | |
| 15 | g.48483871C>T | CA051513 | FBN1 | c.3785G>A (p.Arg1262Lys) n.2459G>A c.637-9221G>A (n.637-9221G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48483872T>A | CA392323851 | FBN1 | c.3784A>T (p.Arg1262Trp) n.2458A>T c.637-9222A>T (n.637-9222A>T) | |
| 15 | g.48483872T>C | CA392323853 | FBN1 | c.3784A>G (p.Arg1262Gly) n.2458A>G c.637-9222A>G (n.637-9222A>G) | |
| 15 | g.48483872T>G | CA490017061 | FBN1 | c.3784A>C (p.Arg1262=) n.2458A>C c.637-9222A>C (n.637-9222A>C) | |
| 15 | g.48483872_48483873delinsTG | CA2175509523 | FBN1 | c.3783_3784delinsCA (p.Tyr1261=) n.2457_2458delinsCA c.637-9223_637-9222delinsCA (n.637-9223_637-9222delinsCA) | |
| 15 | g.48483873del | CA658824435 | FBN1 | c.3783del (p.Tyr1261Ter) n.2457del c.637-9223del (n.637-9223del) | ClinVar dbSNP |
| 15 | g.48483873G>A | CA490017063 | FBN1 | c.3783C>T (p.Tyr1261=) n.2457C>T c.637-9223C>T (n.637-9223C>T) | gnomAD v4 |
| 15 | g.48483873G>C | CA392323856 | FBN1 | c.3783C>G (p.Tyr1261Ter) n.2457C>G c.637-9223C>G (n.637-9223C>G) | |
| 15 | g.48483873G>T | CA392323858 | FBN1 | c.3783C>A (p.Tyr1261Ter) n.2457C>A c.637-9223C>A (n.637-9223C>A) | |
| 15 | g.48483874T>A | CA392323861 | FBN1 | c.3782A>T (p.Tyr1261Phe) n.2456A>T c.637-9224A>T (n.637-9224A>T) | |
| 15 | g.48483874T>C | CA392323863 | FBN1 | c.3782A>G (p.Tyr1261Cys) n.2456A>G c.637-9224A>G (n.637-9224A>G) | |
| 15 | g.48483874T>G | CA392323864 | FBN1 | c.3782A>C (p.Tyr1261Ser) n.2456A>C c.637-9224A>C (n.637-9224A>C) | |
| 15 | g.48483875A>C | CA392323867 | FBN1 | c.3781T>G (p.Tyr1261Asp) n.2455T>G c.637-9225T>G (n.637-9225T>G) | |
| 15 | g.48483875A>G | CA392323868 | FBN1 | c.3781T>C (p.Tyr1261His) n.2455T>C c.637-9225T>C (n.637-9225T>C) | |
| 15 | g.48483875A>T | CA392323872 | FBN1 | c.3781T>A (p.Tyr1261Asn) n.2455T>A c.637-9225T>A (n.637-9225T>A) | |
| 15 | g.48483876C>A | CA392323875 | FBN1 | c.3780G>T (p.Glu1260Asp) n.2454G>T c.637-9226G>T (n.637-9226G>T) | |
| 15 | g.48483876C= | CA2175509537 | FBN1 | c.3780G= (p.Glu1260=) n.2454G= c.637-9226G= (n.637-9226G=) | |
| 15 | g.48483876C>G | CA392323877 | FBN1 | c.3780G>C (p.Glu1260Asp) n.2454G>C c.637-9226G>C (n.637-9226G>C) | |
| 15 | g.48483876C>T | CA490017068 | FBN1 | c.3780G>A (p.Glu1260=) n.2454G>A c.637-9226G>A (n.637-9226G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48483877T>A | CA392323880 | FBN1 | c.3779A>T (p.Glu1260Val) n.2453A>T c.637-9227A>T (n.637-9227A>T) | |
| 15 | g.48483877T>C | CA392323882 | FBN1 | c.3779A>G (p.Glu1260Gly) n.2453A>G c.637-9227A>G (n.637-9227A>G) | dbSNP |
| 15 | g.48483877T>G | CA392323884 | FBN1 | c.3779A>C (p.Glu1260Ala) n.2453A>C c.637-9227A>C (n.637-9227A>C) | |
| 15 | g.48483877T= | CA2175509543 | FBN1 | c.3779A= (p.Glu1260=) n.2453A= c.637-9227A= (n.637-9227A=) | |
| 15 | g.48483878C>A | CA392323887 | FBN1 | c.3778G>T (p.Glu1260Ter) n.2452G>T c.637-9228G>T (n.637-9228G>T) | ClinVar dbSNP |
| 15 | g.48483878C= | CA2175509549 | FBN1 | c.3778G= (p.Glu1260=) n.2452G= c.637-9228G= (n.637-9228G=) | |
| 15 | g.48483878C>G | CA392323889 | FBN1 | c.3778G>C (p.Glu1260Gln) n.2452G>C c.637-9228G>C (n.637-9228G>C) | |
| 15 | g.48483878C>T | CA392323891 | FBN1 | c.3778G>A (p.Glu1260Lys) n.2452G>A c.637-9228G>A (n.637-9228G>A) | |
| 15 | g.48483879T>A | CA490017075 | FBN1 | c.3777A>T (p.Gly1259=) n.2451A>T c.637-9229A>T (n.637-9229A>T) | |
| 15 | g.48483879T>C | CA490017076 | FBN1 | c.3777A>G (p.Gly1259=) n.2451A>G c.637-9229A>G (n.637-9229A>G) | gnomAD v4 |
| 15 | g.48483879T>G | CA490017079 | FBN1 | c.3777A>C (p.Gly1259=) n.2451A>C c.637-9229A>C (n.637-9229A>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48483879T= | CA2175509553 | FBN1 | c.3777A= (p.Gly1259=) n.2451A= c.637-9229A= (n.637-9229A=) | |
| 15 | g.48483880C>A | CA392323893 | FBN1 | c.3776G>T (p.Gly1259Val) n.2450G>T c.637-9230G>T (n.637-9230G>T) | |
| 15 | g.48483880C>G | CA392323896 | FBN1 | c.3776G>C (p.Gly1259Ala) n.2450G>C c.637-9230G>C (n.637-9230G>C) | |
| 15 | g.48483880C>T | CA392323898 | FBN1 | c.3776G>A (p.Gly1259Glu) n.2450G>A c.637-9230G>A (n.637-9230G>A) | |
| 15 | g.48483881C>A | CA392323901 | FBN1 | c.3775G>T (p.Gly1259Ter) n.2449G>T c.637-9231G>T (n.637-9231G>T) | |
| 15 | g.48483881C>G | CA392323904 | FBN1 | c.3775G>C (p.Gly1259Arg) n.2449G>C c.637-9231G>C (n.637-9231G>C) | |
| 15 | g.48483881C>T | CA392323906 | FBN1 | c.3775G>A (p.Gly1259Arg) n.2449G>A c.637-9231G>A (n.637-9231G>A) | |
| 15 | g.48483882A>C | CA490017087 | FBN1 | c.3774T>G (p.Pro1258=) n.2448T>G c.637-9232T>G (n.637-9232T>G) | |
| 15 | g.48483882A>G | CA490017095 | FBN1 | c.3774T>C (p.Pro1258=) n.2448T>C c.637-9232T>C (n.637-9232T>C) | |
| 15 | g.48483882A>T | CA490017099 | FBN1 | c.3774T>A (p.Pro1258=) n.2448T>A c.637-9232T>A (n.637-9232T>A) | |
| 15 | g.48483882_48483883delinsAG | CA2175509556 | FBN1 | c.3773_3774delinsCT (p.Pro1258=) n.2447_2448delinsCT c.637-9233_637-9232delinsCT (n.637-9233_637-9232delinsCT) | |
| 15 | g.48483883G>A | CA392323916 | FBN1 | c.3773C>T (p.Pro1258Leu) n.2447C>T c.637-9233C>T (n.637-9233C>T) | |
| 15 | g.48483883G>C | CA392323914 | FBN1 | c.3773C>G (p.Pro1258Arg) n.2447C>G c.637-9233C>G (n.637-9233C>G) | dbSNP gnomAD v4 |
| 15 | g.48483883G= | CA2175509566 | FBN1 | c.3773C= (p.Pro1258=) n.2447C= c.637-9233C= (n.637-9233C=) | |
| 15 | g.48483883G>T | CA392323910 | FBN1 | c.3773C>A (p.Pro1258His) n.2447C>A c.637-9233C>A (n.637-9233C>A) | gnomAD v4 COSMIC |
| 15 | g.48483885del | CA014534 | FBN1 | c.3773del (p.Pro1258LeufsTer18) n.2447del c.637-9233del (n.637-9233del) | ClinVar dbSNP |
| 15 | g.48483884G>A | CA014524 | FBN1 | c.3772C>T (p.Pro1258Ser) n.2446C>T c.637-9234C>T (n.637-9234C>T) | ClinVar dbSNP COSMIC |
| 15 | g.48483884G>C | CA392323920 | FBN1 | c.3772C>G (p.Pro1258Ala) n.2446C>G c.637-9234C>G (n.637-9234C>G) | |
| 15 | g.48483884G= | CA2175509581 | FBN1 | c.3772C= (p.Pro1258=) n.2446C= c.637-9234C= (n.637-9234C=) | |
| 15 | g.48483884G>T | CA392323922 | FBN1 | c.3772C>A (p.Pro1258Thr) n.2446C>A c.637-9234C>A (n.637-9234C>A) | |
| 15 | g.48483885G>A | CA490017105 | FBN1 | c.3771C>T (p.Ile1257=) n.2445C>T c.637-9235C>T (n.637-9235C>T) | ClinVar dbSNP |
| 15 | g.48483885G>C | CA392323925 | FBN1 | c.3771C>G (p.Ile1257Met) n.2445C>G c.637-9235C>G (n.637-9235C>G) | |
| 15 | g.48483885G= | CA2175509591 | FBN1 | c.3771C= (p.Ile1257=) n.2445C= c.637-9235C= (n.637-9235C=) | |
| 15 | g.48483885G>T | CA490017106 | FBN1 | c.3771C>A (p.Ile1257=) n.2445C>A c.637-9235C>A (n.637-9235C>A) | |
| 15 | g.48483886A= | CA2175509594 | FBN1 | c.3770T= (p.Ile1257=) n.2444T= c.637-9236T= (n.637-9236T=) | |
| 15 | g.48483886A>C | CA392323929 | FBN1 | c.3770T>G (p.Ile1257Ser) n.2444T>G c.637-9236T>G (n.637-9236T>G) | |
| 15 | g.48483886A>G | CA392323931 | FBN1 | c.3770T>C (p.Ile1257Thr) n.2444T>C c.637-9236T>C (n.637-9236T>C) | |
| 15 | g.48483886A>T | CA392323933 | FBN1 | c.3770T>A (p.Ile1257Asn) n.2444T>A c.637-9236T>A (n.637-9236T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48483887T>A | CA392323936 | FBN1 | c.3769A>T (p.Ile1257Phe) n.2443A>T c.637-9237A>T (n.637-9237A>T) | |
| 15 | g.48483887T>C | CA392323938 | FBN1 | c.3769A>G (p.Ile1257Val) n.2443A>G c.637-9237A>G (n.637-9237A>G) | gnomAD v4 |
| 15 | g.48483887T>G | CA392323940 | FBN1 | c.3769A>C (p.Ile1257Leu) n.2443A>C c.637-9237A>C (n.637-9237A>C) | |
| 15 | g.48483888A>C | CA392323943 | FBN1 | c.3768T>G (p.Asn1256Lys) n.2442T>G c.637-9238T>G (n.637-9238T>G) | |
| 15 | g.48483888A>G | CA490017119 | FBN1 | c.3768T>C (p.Asn1256=) n.2442T>C c.637-9238T>C (n.637-9238T>C) | |
| 15 | g.48483888A>T | CA392323945 | FBN1 | c.3768T>A (p.Asn1256Lys) n.2442T>A c.637-9238T>A (n.637-9238T>A) | COSMIC |
| 15 | g.48483888_48483891delinsATTT | CA2175509598 | FBN1 | c.3765_3768delinsAAAT (p.Thr1255=) n.2439_2442delinsAAAT c.637-9241_637-9238delinsAAAT (n.637-9241_637-9238delinsAAAT) | |
| 15 | g.48483889T>A | CA392323951 | FBN1 | c.3767A>T (p.Asn1256Ile) n.2441A>T c.637-9239A>T (n.637-9239A>T) | |
| 15 | g.48483889T>C | CA392323953 | FBN1 | c.3767A>G (p.Asn1256Ser) n.2441A>G c.637-9239A>G (n.637-9239A>G) | |
| 15 | g.48483889T>G | CA392323955 | FBN1 | c.3767A>C (p.Asn1256Thr) n.2441A>C c.637-9239A>C (n.637-9239A>C) | |
| 15 | g.48483889_48483891delinsGTACAG | CA10587831 | FBN1 | c.3765_3767delinsCTGTAC (p.Asn1256delinsCysThr) n.2439_2441delinsCTGTAC c.637-9241_637-9239delinsCTGTAC (n.637-9241_637-9239delinsCTGTAC) | ClinVar dbSNP |
| 15 | g.48483891del | CA269526025 | FBN1 | c.3767del (p.Asn1256IlefsTer20) n.2441del c.637-9239del (n.637-9239del) | dbSNP |
| 15 | g.48483890T>A | CA392323959 | FBN1 | c.3766A>T (p.Asn1256Tyr) n.2440A>T c.637-9240A>T (n.637-9240A>T) | |
| 15 | g.48483890T>C | CA051509 | FBN1 | c.3766A>G (p.Asn1256Asp) n.2440A>G c.637-9240A>G (n.637-9240A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48483890T>G | CA392323963 | FBN1 | c.3766A>C (p.Asn1256His) n.2440A>C c.637-9240A>C (n.637-9240A>C) | ClinVar dbSNP |
| 15 | g.48483890T= | CA2175509613 | FBN1 | c.3766A= (p.Asn1256=) n.2440A= c.637-9240A= (n.637-9240A=) | |
| 15 | g.48483891T>A | CA490017127 | FBN1 | c.3765A>T (p.Thr1255=) n.2439A>T c.637-9241A>T (n.637-9241A>T) | |
| 15 | g.48483891T>C | CA490017128 | FBN1 | c.3765A>G (p.Thr1255=) n.2439A>G c.637-9241A>G (n.637-9241A>G) | |
| 15 | g.48483891T>G | CA490017129 | FBN1 | c.3765A>C (p.Thr1255=) n.2439A>C c.637-9241A>C (n.637-9241A>C) | |
| 15 | g.48483892G>A | CA392323966 | FBN1 | c.3764C>T (p.Thr1255Ile) n.2438C>T c.637-9242C>T (n.637-9242C>T) | |
| 15 | g.48483892G>C | CA392323968 | FBN1 | c.3764C>G (p.Thr1255Arg) n.2438C>G c.637-9242C>G (n.637-9242C>G) | gnomAD v4 |
| 15 | g.48483892G>T | CA392323967 | FBN1 | c.3764C>A (p.Thr1255Lys) n.2438C>A c.637-9242C>A (n.637-9242C>A) | |
| 15 | g.48483892_48483896dup | CA2695220665 | FBN1 | c.3760_3764dup (p.Asn1256AlafsTer22) n.2434_2438dup c.637-9246_637-9242dup (n.637-9246_637-9242dup) | |
| 15 | g.48483893T>A | CA392323971 | FBN1 | c.3763A>T (p.Thr1255Ser) n.2437A>T c.637-9243A>T (n.637-9243A>T) | |
| 15 | g.48483893T>C | CA392323973 | FBN1 | c.3763A>G (p.Thr1255Ala) n.2437A>G c.637-9243A>G (n.637-9243A>G) | |
| 15 | g.48483893T>G | CA392323975 | FBN1 | c.3763A>C (p.Thr1255Pro) n.2437A>C c.637-9243A>C (n.637-9243A>C) | |
| 15 | g.48483894G>A | CA490017133 | FBN1 | c.3762C>T (p.Cys1254=) n.2436C>T c.637-9244C>T (n.637-9244C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48483894G>C | CA392323978 | FBN1 | c.3762C>G (p.Cys1254Trp) n.2436C>G c.637-9244C>G (n.637-9244C>G) | |
| 15 | g.48483894G= | CA2175509620 | FBN1 | c.3762C= (p.Cys1254=) n.2436C= c.637-9244C= (n.637-9244C=) | |
| 15 | g.48483894G>T | CA392323981 | FBN1 | c.3762C>A (p.Cys1254Ter) n.2436C>A c.637-9244C>A (n.637-9244C>A) | |
| 15 | g.48483895C>A | CA392323984 | FBN1 | c.3761G>T (p.Cys1254Phe) n.2435G>T c.637-9245G>T (n.637-9245G>T) | |
| 15 | g.48483895C= | CA2175509628 | FBN1 | c.3761G= (p.Cys1254=) n.2435G= c.637-9245G= (n.637-9245G=) | |
| 15 | g.48483895C>G | CA392323985 | FBN1 | c.3761G>C (p.Cys1254Ser) n.2435G>C c.637-9245G>C (n.637-9245G>C) | |
| 15 | g.48483895C>T | CA392323988 | FBN1 | c.3761G>A (p.Cys1254Tyr) n.2435G>A c.637-9245G>A (n.637-9245G>A) | ClinVar dbSNP |
| 15 | g.48483895_48483899delinsCACTG | CA2175509629 | FBN1 | c.3757_3761delinsCAGTG (p.Gln1253=) n.2431_2435delinsCAGTG c.637-9249_637-9245delinsCAGTG (n.637-9249_637-9245delinsCAGTG) | |
| 15 | g.48483896A>C | CA392323990 | FBN1 | c.3760T>G (p.Cys1254Gly) n.2434T>G c.637-9246T>G (n.637-9246T>G) | |
| 15 | g.48483896A>G | CA392323991 | FBN1 | c.3760T>C (p.Cys1254Arg) n.2434T>C c.637-9246T>C (n.637-9246T>C) | |
| 15 | g.48483896A>T | CA392323992 | FBN1 | c.3760T>A (p.Cys1254Ser) n.2434T>A c.637-9246T>A (n.637-9246T>A) | |
| 15 | g.48483896_48483897delinsAC | CA2175509636 | FBN1 | c.3759_3760delinsGT (p.Gln1253=) n.2433_2434delinsGT c.637-9247_637-9246delinsGT (n.637-9247_637-9246delinsGT) | |
| 15 | g.48483898_48483901del | CA1139663894 | FBN1 | c.3757_3760del (p.Gln1253AlafsTer22) n.2431_2434del c.637-9249_637-9246del (n.637-9249_637-9246del) | ClinVar dbSNP |
| 15 | g.48483897del | CA658824436 | FBN1 | c.3759del (p.Gln1253HisfsTer23) n.2433del c.637-9247del (n.637-9247del) | ClinVar dbSNP |
| 15 | g.48483897C>A | CA392323993 | FBN1 | c.3759G>T (p.Gln1253His) n.2433G>T c.637-9247G>T (n.637-9247G>T) | |
| 15 | g.48483897C>G | CA392323994 | FBN1 | c.3759G>C (p.Gln1253His) n.2433G>C c.637-9247G>C (n.637-9247G>C) | ClinVar dbSNP |
| 15 | g.48483897C>T | CA490017143 | FBN1 | c.3759G>A (p.Gln1253=) n.2433G>A c.637-9247G>A (n.637-9247G>A) | |
| 15 | g.48483898T>A | CA392323998 | FBN1 | c.3758A>T (p.Gln1253Leu) n.2432A>T c.637-9248A>T (n.637-9248A>T) | |
| 15 | g.48483898T>C | CA392324000 | FBN1 | c.3758A>G (p.Gln1253Arg) n.2432A>G c.637-9248A>G (n.637-9248A>G) | |
| 15 | g.48483898T>G | CA392323999 | FBN1 | c.3758A>C (p.Gln1253Pro) n.2432A>C c.637-9248A>C (n.637-9248A>C) | ClinVar |
| 15 | g.48483899G>A | CA392324001 | FBN1 | c.3757C>T (p.Gln1253Ter) n.2431C>T c.637-9249C>T (n.637-9249C>T) | ClinVar dbSNP |
| 15 | g.48483899G>C | CA392324002 | FBN1 | c.3757C>G (p.Gln1253Glu) n.2431C>G c.637-9249C>G (n.637-9249C>G) | |
| 15 | g.48483899G= | CA2175509654 | FBN1 | c.3757C= (p.Gln1253=) n.2431C= c.637-9249C= (n.637-9249C=) | |
| 15 | g.48483899G>T | CA392324003 | FBN1 | c.3757C>A (p.Gln1253Lys) n.2431C>A c.637-9249C>A (n.637-9249C>A) | |
| 15 | g.48483900A>C | CA490017151 | FBN1 | c.3756T>G (p.Gly1252=) n.2430T>G c.637-9250T>G (n.637-9250T>G) | gnomAD v4 |
| 15 | g.48483900A>G | CA490017152 | FBN1 | c.3756T>C (p.Gly1252=) n.2430T>C c.637-9250T>C (n.637-9250T>C) | gnomAD v4 |
| 15 | g.48483900A>T | CA490017153 | FBN1 | c.3756T>A (p.Gly1252=) n.2430T>A c.637-9250T>A (n.637-9250T>A) | |
| 15 | g.48483901C>A | CA392324007 | FBN1 | c.3755G>T (p.Gly1252Val) n.2429G>T c.637-9251G>T (n.637-9251G>T) | |
| 15 | g.48483901C>G | CA392324009 | FBN1 | c.3755G>C (p.Gly1252Ala) n.2429G>C c.637-9251G>C (n.637-9251G>C) | |
| 15 | g.48483901C>T | CA392324011 | FBN1 | c.3755G>A (p.Gly1252Asp) n.2429G>A c.637-9251G>A (n.637-9251G>A) | |
| 15 | g.48483902C>A | CA392324014 | FBN1 | c.3754G>T (p.Gly1252Cys) n.2428G>T c.637-9252G>T (n.637-9252G>T) | |
| 15 | g.48483902C>G | CA392324016 | FBN1 | c.3754G>C (p.Gly1252Arg) n.2428G>C c.637-9252G>C (n.637-9252G>C) | |
| 15 | g.48483902C>T | CA392324018 | FBN1 | c.3754G>A (p.Gly1252Ser) n.2428G>A c.637-9252G>A (n.637-9252G>A) | |
| 15 | g.48483903A>C | CA490017161 | FBN1 | c.3753T>G (p.Gly1251=) n.2427T>G c.637-9253T>G (n.637-9253T>G) | |
| 15 | g.48483903A>G | CA490017162 | FBN1 | c.3753T>C (p.Gly1251=) n.2427T>C c.637-9253T>C (n.637-9253T>C) | |
| 15 | g.48483903A>T | CA490017163 | FBN1 | c.3753T>A (p.Gly1251=) n.2427T>A c.637-9253T>A (n.637-9253T>A) | |
| 15 | g.48483904C>A | CA392324022 | FBN1 | c.3752G>T (p.Gly1251Val) n.2426G>T c.637-9254G>T (n.637-9254G>T) | gnomAD v4 |
| 15 | g.48483904C>G | CA392324021 | FBN1 | c.3752G>C (p.Gly1251Ala) n.2426G>C c.637-9254G>C (n.637-9254G>C) | |
| 15 | g.48483904C>T | CA392324020 | FBN1 | c.3752G>A (p.Gly1251Asp) n.2426G>A c.637-9254G>A (n.637-9254G>A) | |
| 15 | g.48483905C>A | CA392324024 | FBN1 | c.3751G>T (p.Gly1251Cys) n.2425G>T c.637-9255G>T (n.637-9255G>T) | ClinVar |
| 15 | g.48483905C>G | CA392324026 | FBN1 | c.3751G>C (p.Gly1251Arg) n.2425G>C c.637-9255G>C (n.637-9255G>C) | |
| 15 | g.48483905C>T | CA392324028 | FBN1 | c.3751G>A (p.Gly1251Ser) n.2425G>A c.637-9255G>A (n.637-9255G>A) | |
| 15 | g.48483906A>C | CA392324031 | FBN1 | c.3750T>G (p.Asp1250Glu) n.2424T>G c.637-9256T>G (n.637-9256T>G) | ClinVar |
| 15 | g.48483906A>G | CA490017168 | FBN1 | c.3750T>C (p.Asp1250=) n.2424T>C c.637-9256T>C (n.637-9256T>C) | |
| 15 | g.48483906A>T | CA392324032 | FBN1 | c.3750T>A (p.Asp1250Glu) n.2424T>A c.637-9256T>A (n.637-9256T>A) | |
| 15 | g.48483907T>A | CA392324033 | FBN1 | c.3749A>T (p.Asp1250Val) n.2423A>T c.637-9257A>T (n.637-9257A>T) | gnomAD v4 |
| 15 | g.48483907T>C | CA392324035 | FBN1 | c.3749A>G (p.Asp1250Gly) n.2423A>G c.637-9257A>G (n.637-9257A>G) | |
| 15 | g.48483907T>G | CA392324037 | FBN1 | c.3749A>C (p.Asp1250Ala) n.2423A>C c.637-9257A>C (n.637-9257A>C) | |
| 15 | g.48483908C>A | CA392324039 | FBN1 | c.3748G>T (p.Asp1250Tyr) n.2422G>T c.637-9258G>T (n.637-9258G>T) | ClinVar dbSNP |
| 15 | g.48483908C= | CA2175509662 | FBN1 | c.3748G= (p.Asp1250=) n.2422G= c.637-9258G= (n.637-9258G=) | |
| 15 | g.48483908C>G | CA392324041 | FBN1 | c.3748G>C (p.Asp1250His) n.2422G>C c.637-9258G>C (n.637-9258G>C) | gnomAD v4 |
| 15 | g.48483908C>T | CA392324045 | FBN1 | c.3748G>A (p.Asp1250Asn) n.2422G>A c.637-9258G>A (n.637-9258G>A) | |
| 15 | g.48483909A>C | CA392324048 | FBN1 | c.3747T>G (p.Cys1249Trp) n.2421T>G c.637-9259T>G (n.637-9259T>G) | |
| 15 | g.48483909A>G | CA490017173 | FBN1 | c.3747T>C (p.Cys1249=) n.2421T>C c.637-9259T>C (n.637-9259T>C) | |
| 15 | g.48483909A>T | CA392324049 | FBN1 | c.3747T>A (p.Cys1249Ter) n.2421T>A c.637-9259T>A (n.637-9259T>A) | |
| 15 | g.48483910C>A | CA392324051 | FBN1 | c.3746G>T (p.Cys1249Phe) n.2420G>T c.637-9260G>T (n.637-9260G>T) | |
| 15 | g.48483910C= | CA2175509667 | FBN1 | c.3746G= (p.Cys1249=) n.2420G= c.637-9260G= (n.637-9260G=) | |
| 15 | g.48483910C>G | CA014509 | FBN1 | c.3746G>C (p.Cys1249Ser) n.2420G>C c.637-9260G>C (n.637-9260G>C) | ClinVar dbSNP |
| 15 | g.48483910C>T | CA392324053 | FBN1 | c.3746G>A (p.Cys1249Tyr) n.2420G>A c.637-9260G>A (n.637-9260G>A) | ClinVar |
| 15 | g.48483911A>C | CA392324057 | FBN1 | c.3745T>G (p.Cys1249Gly) n.2419T>G c.637-9261T>G (n.637-9261T>G) | ClinVar |
| 15 | g.48483911A>G | CA392324059 | FBN1 | c.3745T>C (p.Cys1249Arg) n.2419T>C c.637-9261T>C (n.637-9261T>C) | |
| 15 | g.48483911A>T | CA392324062 | FBN1 | c.3745T>A (p.Cys1249Ser) n.2419T>A c.637-9261T>A (n.637-9261T>A) | |
| 15 | g.48483912G>A | CA269526062 | FBN1 | c.3744C>T (p.Ile1248=) n.2418C>T c.637-9262C>T (n.637-9262C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48483912G>C | CA392324066 | FBN1 | c.3744C>G (p.Ile1248Met) n.2418C>G c.637-9262C>G (n.637-9262C>G) | |
| 15 | g.48483912G= | CA2175509671 | FBN1 | c.3744C= (p.Ile1248=) n.2418C= c.637-9262C= (n.637-9262C=) | |
| 15 | g.48483912G>T | CA490017183 | FBN1 | c.3744C>A (p.Ile1248=) n.2418C>A c.637-9262C>A (n.637-9262C>A) | |
| 15 | g.48483913A>C | CA392324068 | FBN1 | c.3743T>G (p.Ile1248Ser) n.2417T>G c.637-9263T>G (n.637-9263T>G) | |
| 15 | g.48483913A>G | CA392324072 | FBN1 | c.3743T>C (p.Ile1248Thr) n.2417T>C c.637-9263T>C (n.637-9263T>C) | |
| 15 | g.48483913A>T | CA392324075 | FBN1 | c.3743T>A (p.Ile1248Asn) n.2417T>A c.637-9263T>A (n.637-9263T>A) | |
| 15 | g.48483914T>A | CA392324078 | FBN1 | c.3742A>T (p.Ile1248Phe) n.2416A>T c.637-9264A>T (n.637-9264A>T) | |
| 15 | g.48483914T>C | CA392324081 | FBN1 | c.3742A>G (p.Ile1248Val) n.2416A>G c.637-9264A>G (n.637-9264A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48483914T>G | CA392324083 | FBN1 | c.3742A>C (p.Ile1248Leu) n.2416A>C c.637-9264A>C (n.637-9264A>C) | |
| 15 | g.48483914T= | CA2175509674 | FBN1 | c.3742A= (p.Ile1248=) n.2416A= c.637-9264A= (n.637-9264A=) | |
| 15 | g.48483914_48483915insGTTGT | CA2804072412 | FBN1 | c.3742_3743insCAACA (p.Ile1248ThrfsTer30) n.2416_2417insCAACA c.637-9264_637-9263insCAACA (n.637-9264_637-9263insCAACA) | |
| 15 | g.48483915A>C | CA392324088 | FBN1 | c.3741T>G (p.Asn1247Lys) n.2415T>G c.637-9265T>G (n.637-9265T>G) | |
| 15 | g.48483915A>G | CA490017187 | FBN1 | c.3741T>C (p.Asn1247=) n.2415T>C c.637-9265T>C (n.637-9265T>C) | |
| 15 | g.48483915A>T | CA392324086 | FBN1 | c.3741T>A (p.Asn1247Lys) n.2415T>A c.637-9265T>A (n.637-9265T>A) | |
| 15 | g.48483916T>A | CA051501 | FBN1 | c.3740A>T (p.Asn1247Ile) n.2414A>T c.637-9266A>T (n.637-9266A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48483916T>C | CA392324092 | FBN1 | c.3740A>G (p.Asn1247Ser) n.2414A>G c.637-9266A>G (n.637-9266A>G) | dbSNP gnomAD v4 |
| 15 | g.48483916T>G | CA392324096 | FBN1 | c.3740A>C (p.Asn1247Thr) n.2414A>C c.637-9266A>C (n.637-9266A>C) | |
| 15 | g.48483916T= | CA2175509682 | FBN1 | c.3740A= (p.Asn1247=) n.2414A= c.637-9266A= (n.637-9266A=) | |
| 15 | g.48483917T>A | CA392324099 | FBN1 | c.3739A>T (p.Asn1247Tyr) n.2413A>T c.637-9267A>T (n.637-9267A>T) | |
| 15 | g.48483917T>C | CA392324101 | FBN1 | c.3739A>G (p.Asn1247Asp) n.2413A>G c.637-9267A>G (n.637-9267A>G) | |
| 15 | g.48483917T>G | CA392324102 | FBN1 | c.3739A>C (p.Asn1247His) n.2413A>C c.637-9267A>C (n.637-9267A>C) | |
| 15 | g.48483917_48483918delinsTG | CA2175509689 | FBN1 | c.3738_3739delinsCA (p.Pro1246=) n.2412_2413delinsCA c.637-9268_637-9267delinsCA (n.637-9268_637-9267delinsCA) | |
| 15 | g.48483918G>A | CA490017192 | FBN1 | c.3738C>T (p.Pro1246=) n.2412C>T c.637-9268C>T (n.637-9268C>T) | gnomAD v4 |
| 15 | g.48483918G>C | CA490017193 | FBN1 | c.3738C>G (p.Pro1246=) n.2412C>G c.637-9268C>G (n.637-9268C>G) | |
| 15 | g.48483918G>T | CA490017194 | FBN1 | c.3738C>A (p.Pro1246=) n.2412C>A c.637-9268C>A (n.637-9268C>A) | |
| 15 | g.48483920del | CA617835389 | FBN1 | c.3738del (p.Asn1247IlefsTer29) n.2412del c.637-9268del (n.637-9268del) | dbSNP gnomAD v2 |
| 15 | g.48483919G>A | CA392324108 | FBN1 | c.3737C>T (p.Pro1246Leu) n.2411C>T c.637-9269C>T (n.637-9269C>T) | |
| 15 | g.48483919G>C | CA392324106 | FBN1 | c.3737C>G (p.Pro1246Arg) n.2411C>G c.637-9269C>G (n.637-9269C>G) | dbSNP gnomAD v2 |
| 15 | g.48483919G= | CA2175509692 | FBN1 | c.3737C= (p.Pro1246=) n.2411C= c.637-9269C= (n.637-9269C=) | |
| 15 | g.48483919G>T | CA392324107 | FBN1 | c.3737C>A (p.Pro1246His) n.2411C>A c.637-9269C>A (n.637-9269C>A) | COSMIC |
| 15 | g.48483920G>A | CA051494 | FBN1 | c.3736C>T (p.Pro1246Ser) n.2410C>T c.637-9270C>T (n.637-9270C>T) | dbSNP ExAC gnomAD v4 |
| 15 | g.48483920G>C | CA392324111 | FBN1 | c.3736C>G (p.Pro1246Ala) n.2410C>G c.637-9270C>G (n.637-9270C>G) | |
| 15 | g.48483920G= | CA2175509698 | FBN1 | c.3736C= (p.Pro1246=) n.2410C= c.637-9270C= (n.637-9270C=) | |
| 15 | g.48483920G>T | CA392324113 | FBN1 | c.3736C>A (p.Pro1246Thr) n.2410C>A c.637-9270C>A (n.637-9270C>A) | |
| 15 | g.48483921A>C | CA392324115 | FBN1 | c.3735T>G (p.Asn1245Lys) n.2409T>G c.637-9271T>G (n.637-9271T>G) | |
| 15 | g.48483921A>G | CA490017200 | FBN1 | c.3735T>C (p.Asn1245=) n.2409T>C c.637-9271T>C (n.637-9271T>C) | |
| 15 | g.48483921A>T | CA392324117 | FBN1 | c.3735T>A (p.Asn1245Lys) n.2409T>A c.637-9271T>A (n.637-9271T>A) | |
| 15 | g.48483922T>A | CA392324125 | FBN1 | c.3734A>T (p.Asn1245Ile) n.2408A>T c.637-9272A>T (n.637-9272A>T) | |
| 15 | g.48483922T>C | CA392324121 | FBN1 | c.3734A>G (p.Asn1245Ser) n.2408A>G c.637-9272A>G (n.637-9272A>G) | |
| 15 | g.48483922T>G | CA392324123 | FBN1 | c.3734A>C (p.Asn1245Thr) n.2408A>C c.637-9272A>C (n.637-9272A>C) | |
| 15 | g.48483923T>A | CA392324128 | FBN1 | c.3733A>T (p.Asn1245Tyr) n.2407A>T c.637-9273A>T (n.637-9273A>T) | |
| 15 | g.48483923T>C | CA392324130 | FBN1 | c.3733A>G (p.Asn1245Asp) n.2407A>G c.637-9273A>G (n.637-9273A>G) | |
| 15 | g.48483923T>G | CA392324133 | FBN1 | c.3733A>C (p.Asn1245His) n.2407A>C c.637-9273A>C (n.637-9273A>C) | |
| 15 | g.48483924A>C | CA392324136 | FBN1 | c.3732T>G (p.Asp1244Glu) n.2406T>G c.637-9274T>G (n.637-9274T>G) | |
| 15 | g.48483924A>G | CA490017206 | FBN1 | c.3732T>C (p.Asp1244=) n.2406T>C c.637-9274T>C (n.637-9274T>C) | |
| 15 | g.48483924A>T | CA392324138 | FBN1 | c.3732T>A (p.Asp1244Glu) n.2406T>A c.637-9274T>A (n.637-9274T>A) | |
| 15 | g.48483927_48483938del | CA2580089573 | FBN1 | c.3721_3732del (p.Glu1241_Asp1244del) n.2395_2406del c.637-9285_637-9274del (n.637-9285_637-9274del) | ClinVar |
| 15 | g.48483925T>A | CA392324142 | FBN1 | c.3731A>T (p.Asp1244Val) n.2405A>T c.637-9275A>T (n.637-9275A>T) | |
| 15 | g.48483925T>C | CA392324144 | FBN1 | c.3731A>G (p.Asp1244Gly) n.2405A>G c.637-9275A>G (n.637-9275A>G) | gnomAD v4 |
| 15 | g.48483925T>G | CA392324146 | FBN1 | c.3731A>C (p.Asp1244Ala) n.2405A>C c.637-9275A>C (n.637-9275A>C) | |
| 15 | g.48483926C>A | CA392324149 | FBN1 | c.3730G>T (p.Asp1244Tyr) n.2404G>T c.637-9276G>T (n.637-9276G>T) | |
| 15 | g.48483926C= | CA2175509705 | FBN1 | c.3730G= (p.Asp1244=) n.2404G= c.637-9276G= (n.637-9276G=) | |
| 15 | g.48483926C>G | CA392324151 | FBN1 | c.3730G>C (p.Asp1244His) n.2404G>C c.637-9276G>C (n.637-9276G>C) | |
| 15 | g.48483926C>T | CA392324153 | FBN1 | c.3730G>A (p.Asp1244Asn) n.2404G>A c.637-9276G>A (n.637-9276G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48483927T>A | CA392324156 | FBN1 | c.3729A>T (p.Glu1243Asp) n.2403A>T c.637-9277A>T (n.637-9277A>T) | |
| 15 | g.48483927T>C | CA490017208 | FBN1 | c.3729A>G (p.Glu1243=) n.2403A>G c.637-9277A>G (n.637-9277A>G) | |
| 15 | g.48483927T>G | CA392324158 | FBN1 | c.3729A>C (p.Glu1243Asp) n.2403A>C c.637-9277A>C (n.637-9277A>C) | |
| 15 | g.48483928T>A | CA392324160 | FBN1 | c.3728A>T (p.Glu1243Val) n.2402A>T c.637-9278A>T (n.637-9278A>T) | |
| 15 | g.48483928T>C | CA392324163 | FBN1 | c.3728A>G (p.Glu1243Gly) n.2402A>G c.637-9278A>G (n.637-9278A>G) | ClinVar dbSNP |
| 15 | g.48483928T>G | CA392324161 | FBN1 | c.3728A>C (p.Glu1243Ala) n.2402A>C c.637-9278A>C (n.637-9278A>C) | |
| 15 | g.48483928T= | CA2175509714 | FBN1 | c.3728A= (p.Glu1243=) n.2402A= c.637-9278A= (n.637-9278A=) | |
| 15 | g.48483928_48483944delinsG | CA2695197285 | FBN1 | c.3713-1_3728delinsC n.2387-1_2402delinsC c.637-9294_637-9278delinsC (n.637-9294_637-9278delinsC) | ClinVar |
| 15 | g.48483929C>A | CA392324165 | FBN1 | c.3727G>T (p.Glu1243Ter) n.2401G>T c.637-9279G>T (n.637-9279G>T) | |
| 15 | g.48483929C>G | CA392324167 | FBN1 | c.3727G>C (p.Glu1243Gln) n.2401G>C c.637-9279G>C (n.637-9279G>C) | |
| 15 | g.48483929C>T | CA392324169 | FBN1 | c.3727G>A (p.Glu1243Lys) n.2401G>A c.637-9279G>A (n.637-9279G>A) | |
| 15 | g.48483930A>C | CA392324173 | FBN1 | c.3726T>G (p.Cys1242Trp) n.2400T>G c.637-9280T>G (n.637-9280T>G) | ClinVar |
| 15 | g.48483930A>G | CA490017213 | FBN1 | c.3726T>C (p.Cys1242=) n.2400T>C c.637-9280T>C (n.637-9280T>C) | |
| 15 | g.48483930A>T | CA392324174 | FBN1 | c.3726T>A (p.Cys1242Ter) n.2400T>A c.637-9280T>A (n.637-9280T>A) | |
| 15 | g.48483931C>A | CA392324177 | FBN1 | c.3725G>T (p.Cys1242Phe) n.2399G>T c.637-9281G>T (n.637-9281G>T) | |
| 15 | g.48483931C= | CA2175509726 | FBN1 | c.3725G= (p.Cys1242=) n.2399G= c.637-9281G= (n.637-9281G=) | |
| 15 | g.48483931C>G | CA392324180 | FBN1 | c.3725G>C (p.Cys1242Ser) n.2399G>C c.637-9281G>C (n.637-9281G>C) | |
| 15 | g.48483931C>T | CA014498 | FBN1 | c.3725G>A (p.Cys1242Tyr) n.2399G>A c.637-9281G>A (n.637-9281G>A) | ClinVar dbSNP |