| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48468459_48468463delinsTCACA | CA2175518432 | FBN1 | c.4531_4535delinsTGTGA (p.Cys1511=) n.3205_3209delinsTGTGA c.*294_*298delinsTGTGA (n.*294_*298delinsTGTGA) | |
| 15 | g.48468460_48468463del | CA658656483 | FBN1 | c.4531_4534del (p.Cys1511ThrfsTer8) n.3205_3208del c.*294_*297del (n.*294_*297del) | ClinVar dbSNP |
| 15 | g.48468462del | CA2580089679 | FBN1 | c.4532del (p.Cys1511LeufsTer9) n.3206del c.*295del (n.*295del) | ClinVar |
| 15 | g.48468462C>A | CA392353513 | FBN1 | c.4532G>T (p.Cys1511Phe) n.3206G>T c.*295G>T (n.*295G>T) | |
| 15 | g.48468462C= | CA2175518433 | FBN1 | c.4532G= (p.Cys1511=) n.3206G= c.*295G= (n.*295G=) | |
| 15 | g.48468462C>G | CA392353514 | FBN1 | c.4532G>C (p.Cys1511Ser) n.3206G>C c.*295G>C (n.*295G>C) | |
| 15 | g.48468462C>T | CA16614510 | FBN1 | c.4532G>A (p.Cys1511Tyr) n.3206G>A c.*295G>A (n.*295G>A) | ClinVar dbSNP |
| 15 | g.48468463A= | CA2175518434 | FBN1 | c.4531T= (p.Cys1511=) n.3205T= c.*294T= (n.*294T=) | |
| 15 | g.48468463A>C | CA392353515 | FBN1 | c.4531T>G (p.Cys1511Gly) n.3205T>G c.*294T>G (n.*294T>G) | ClinVar dbSNP |
| 15 | g.48468463A>G | CA015175 | FBN1 | c.4531T>C (p.Cys1511Arg) n.3205T>C c.*294T>C (n.*294T>C) | ClinVar dbSNP |
| 15 | g.48468463A>T | CA392353517 | FBN1 | c.4531T>A (p.Cys1511Ser) n.3205T>A c.*294T>A (n.*294T>A) | |
| 15 | g.48468464G>A | CA053204 | FBN1 | c.4530C>T (p.Ile1510=) n.3204C>T c.*293C>T (n.*293C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48468464G>C | CA392353520 | FBN1 | c.4530C>G (p.Ile1510Met) n.3204C>G c.*293C>G (n.*293C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48468464G= | CA2175518435 | FBN1 | c.4530C= (p.Ile1510=) n.3204C= c.*293C= (n.*293C=) | |
| 15 | g.48468464G>T | CA490027462 | FBN1 | c.4530C>A (p.Ile1510=) n.3204C>A c.*293C>A (n.*293C>A) | |
| 15 | g.48468465A>C | CA392353526 | FBN1 | c.4529T>G (p.Ile1510Ser) n.3203T>G c.*292T>G (n.*292T>G) | |
| 15 | g.48468465A>G | CA392353524 | FBN1 | c.4529T>C (p.Ile1510Thr) n.3203T>C c.*292T>C (n.*292T>C) | dbSNP |
| 15 | g.48468465A>T | CA392353522 | FBN1 | c.4529T>A (p.Ile1510Asn) n.3203T>A c.*292T>A (n.*292T>A) | |
| 15 | g.48468466T>A | CA392353527 | FBN1 | c.4528A>T (p.Ile1510Phe) n.3202A>T c.*291A>T (n.*291A>T) | |
| 15 | g.48468466T>C | CA392353531 | FBN1 | c.4528A>G (p.Ile1510Val) n.3202A>G c.*291A>G (n.*291A>G) | gnomAD v4 |
| 15 | g.48468466T>G | CA392353533 | FBN1 | c.4528A>C (p.Ile1510Leu) n.3202A>C c.*291A>C (n.*291A>C) | |
| 15 | g.48468467A= | CA2175518436 | FBN1 | c.4527T= (p.Tyr1509=) n.3201T= c.*290T= (n.*290T=) | |
| 15 | g.48468467A>C | CA392353535 | FBN1 | c.4527T>G (p.Tyr1509Ter) n.3201T>G c.*290T>G (n.*290T>G) | |
| 15 | g.48468467A>G | CA053194 | FBN1 | c.4527T>C (p.Tyr1509=) n.3201T>C c.*290T>C (n.*290T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48468467A>T | CA392353536 | FBN1 | c.4527T>A (p.Tyr1509Ter) n.3201T>A c.*290T>A (n.*290T>A) | |
| 15 | g.48468467dup | CA2695220602 | FBN1 | c.4527dup (p.Ile1510TyrfsTer3) n.3201dup c.*290dup (n.*290dup) | |
| 15 | g.48468467_48468470del | CA2695220601 | FBN1 | c.4524_4527del (p.Ser1508ArgfsTer11) n.3198_3201del c.*287_*290del (n.*287_*290del) | |
| 15 | g.48468468T>A | CA392353538 | FBN1 | c.4526A>T (p.Tyr1509Phe) n.3200A>T c.*289A>T (n.*289A>T) | |
| 15 | g.48468468T>C | CA015164 | FBN1 | c.4526A>G (p.Tyr1509Cys) n.3200A>G c.*289A>G (n.*289A>G) | ClinVar dbSNP COSMIC |
| 15 | g.48468468T>G | CA392353540 | FBN1 | c.4526A>C (p.Tyr1509Ser) n.3200A>C c.*289A>C (n.*289A>C) | |
| 15 | g.48468468T= | CA2175518437 | FBN1 | c.4526A= (p.Tyr1509=) n.3200A= c.*289A= (n.*289A=) | |
| 15 | g.48468469A>C | CA392353542 | FBN1 | c.4525T>G (p.Tyr1509Asp) n.3199T>G c.*288T>G (n.*288T>G) | ClinVar |
| 15 | g.48468469A>G | CA392353544 | FBN1 | c.4525T>C (p.Tyr1509His) n.3199T>C c.*288T>C (n.*288T>C) | gnomAD v4 |
| 15 | g.48468469A>T | CA392353546 | FBN1 | c.4525T>A (p.Tyr1509Asn) n.3199T>A c.*288T>A (n.*288T>A) | |
| 15 | g.48468470G>A | CA490027468 | FBN1 | c.4524C>T (p.Ser1508=) n.3198C>T c.*287C>T (n.*287C>T) | |
| 15 | g.48468470G>C | CA392353549 | FBN1 | c.4524C>G (p.Ser1508Arg) n.3198C>G c.*287C>G (n.*287C>G) | |
| 15 | g.48468470G>T | CA392353554 | FBN1 | c.4524C>A (p.Ser1508Arg) n.3198C>A c.*287C>A (n.*287C>A) | |
| 15 | g.48468471C>A | CA392353559 | FBN1 | c.4523G>T (p.Ser1508Ile) n.3197G>T c.*286G>T (n.*286G>T) | ClinVar dbSNP |
| 15 | g.48468471C= | CA2175518438 | FBN1 | c.4523G= (p.Ser1508=) n.3197G= c.*286G= (n.*286G=) | |
| 15 | g.48468471C>G | CA392353561 | FBN1 | c.4523G>C (p.Ser1508Thr) n.3197G>C c.*286G>C (n.*286G>C) | |
| 15 | g.48468471C>T | CA392353563 | FBN1 | c.4523G>A (p.Ser1508Asn) n.3197G>A c.*286G>A (n.*286G>A) | |
| 15 | g.48468472T>A | CA392353564 | FBN1 | c.4522A>T (p.Ser1508Cys) n.3196A>T c.*285A>T (n.*285A>T) | |
| 15 | g.48468472T>C | CA392353565 | FBN1 | c.4522A>G (p.Ser1508Gly) n.3196A>G c.*285A>G (n.*285A>G) | |
| 15 | g.48468472T>G | CA392353566 | FBN1 | c.4522A>C (p.Ser1508Arg) n.3196A>C c.*285A>C (n.*285A>C) | |
| 15 | g.48468473G>A | CA490027472 | FBN1 | c.4521C>T (p.Gly1507=) n.3195C>T c.*284C>T (n.*284C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48468473G>C | CA490027473 | FBN1 | c.4521C>G (p.Gly1507=) n.3195C>G c.*284C>G (n.*284C>G) | |
| 15 | g.48468473G= | CA2175518439 | FBN1 | c.4521C= (p.Gly1507=) n.3195C= c.*284C= (n.*284C=) | |
| 15 | g.48468473G>T | CA490027474 | FBN1 | c.4521C>A (p.Gly1507=) n.3195C>A c.*284C>A (n.*284C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48468474C>A | CA392353568 | FBN1 | c.4520G>T (p.Gly1507Val) n.3194G>T c.*283G>T (n.*283G>T) | ClinVar dbSNP |
| 15 | g.48468474C= | CA2175518440 | FBN1 | c.4520G= (p.Gly1507=) n.3194G= c.*283G= (n.*283G=) |