Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) |