| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.128357325A= | CA1581282272 | FBN2 | c.2625T= (p.Cys875=) c.2526T= (p.Cys842=) c.2622T= (p.Cys874=) c.2472T= (p.Cys824=) | |
| 5 | g.128357325A>C | CA360767383 | FBN2 | c.2625T>G (p.Cys875Trp) c.2526T>G (p.Cys842Trp) c.2622T>G (p.Cys874Trp) c.2472T>G (p.Cys824Trp) | |
| 5 | g.128357325A>G | CA324088 | FBN2 | c.2625T>C (p.Cys875=) c.2526T>C (p.Cys842=) c.2622T>C (p.Cys874=) c.2472T>C (p.Cys824=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128357325A>T | CA360767382 | FBN2 | c.2625T>A (p.Cys875Ter) c.2526T>A (p.Cys842Ter) c.2622T>A (p.Cys874Ter) c.2472T>A (p.Cys824Ter) | |
| 5 | g.128357326C>A | CA360767384 | FBN2 | c.2624G>T (p.Cys875Phe) c.2525G>T (p.Cys842Phe) c.2621G>T (p.Cys874Phe) c.2471G>T (p.Cys824Phe) | |
| 5 | g.128357326C>G | CA360767385 | FBN2 | c.2624G>C (p.Cys875Ser) c.2525G>C (p.Cys842Ser) c.2621G>C (p.Cys874Ser) c.2471G>C (p.Cys824Ser) | |
| 5 | g.128357326C>T | CA360767386 | FBN2 | c.2624G>A (p.Cys875Tyr) c.2525G>A (p.Cys842Tyr) c.2621G>A (p.Cys874Tyr) c.2471G>A (p.Cys824Tyr) | |
| 5 | g.128357327A>C | CA360767387 | FBN2 | c.2623T>G (p.Cys875Gly) c.2524T>G (p.Cys842Gly) c.2620T>G (p.Cys874Gly) c.2470T>G (p.Cys824Gly) | |
| 5 | g.128357327A>G | CA360767388 | FBN2 | c.2623T>C (p.Cys875Arg) c.2524T>C (p.Cys842Arg) c.2620T>C (p.Cys874Arg) c.2470T>C (p.Cys824Arg) | |
| 5 | g.128357327A>T | CA360767389 | FBN2 | c.2623T>A (p.Cys875Ser) c.2524T>A (p.Cys842Ser) c.2620T>A (p.Cys874Ser) c.2470T>A (p.Cys824Ser) | |
| 5 | g.128357328A>C | CA360767390 | FBN2 | c.2622T>G (p.Asn874Lys) c.2523T>G (p.Asn841Lys) c.2619T>G (p.Asn873Lys) c.2469T>G (p.Asn823Lys) | |
| 5 | g.128357328A>G | CA446312326 | FBN2 | c.2622T>C (p.Asn874=) c.2523T>C (p.Asn841=) c.2619T>C (p.Asn873=) c.2469T>C (p.Asn823=) | |
| 5 | g.128357328A>T | CA360767391 | FBN2 | c.2622T>A (p.Asn874Lys) c.2523T>A (p.Asn841Lys) c.2619T>A (p.Asn873Lys) c.2469T>A (p.Asn823Lys) | gnomAD v4 |
| 5 | g.128357329T>A | CA360767392 | FBN2 | c.2621A>T (p.Asn874Ile) c.2522A>T (p.Asn841Ile) c.2618A>T (p.Asn873Ile) c.2468A>T (p.Asn823Ile) | |
| 5 | g.128357329T>C | CA360767393 | FBN2 | c.2621A>G (p.Asn874Ser) c.2522A>G (p.Asn841Ser) c.2618A>G (p.Asn873Ser) c.2468A>G (p.Asn823Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128357329T>G | CA360767394 | FBN2 | c.2621A>C (p.Asn874Thr) c.2522A>C (p.Asn841Thr) c.2618A>C (p.Asn873Thr) c.2468A>C (p.Asn823Thr) | gnomAD v4 |
| 5 | g.128357329T= | CA1581282273 | FBN2 | c.2621A= (p.Asn874=) c.2522A= (p.Asn841=) c.2618A= (p.Asn873=) c.2468A= (p.Asn823=) | |
| 5 | g.128357330T>A | CA360767395 | FBN2 | c.2620A>T (p.Asn874Tyr) c.2521A>T (p.Asn841Tyr) c.2617A>T (p.Asn873Tyr) c.2467A>T (p.Asn823Tyr) | dbSNP |
| 5 | g.128357330T>C | CA360767396 | FBN2 | c.2620A>G (p.Asn874Asp) c.2521A>G (p.Asn841Asp) c.2617A>G (p.Asn873Asp) c.2467A>G (p.Asn823Asp) | dbSNP |
| 5 | g.128357330T>G | CA360767397 | FBN2 | c.2620A>C (p.Asn874His) c.2521A>C (p.Asn841His) c.2617A>C (p.Asn873His) c.2467A>C (p.Asn823His) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.128357330T= | CA1581282274 | FBN2 | c.2620A= (p.Asn874=) c.2521A= (p.Asn841=) c.2617A= (p.Asn873=) c.2467A= (p.Asn823=) | |
| 5 | g.128357331G>A | CA446312327 | FBN2 | c.2619C>T (p.Phe873=) c.2520C>T (p.Phe840=) c.2616C>T (p.Phe872=) c.2466C>T (p.Phe822=) | |
| 5 | g.128357331G>C | CA360767398 | FBN2 | c.2619C>G (p.Phe873Leu) c.2520C>G (p.Phe840Leu) c.2616C>G (p.Phe872Leu) c.2466C>G (p.Phe822Leu) | |
| 5 | g.128357331G= | CA1581282275 | FBN2 | c.2619C= (p.Phe873=) c.2520C= (p.Phe840=) c.2616C= (p.Phe872=) c.2466C= (p.Phe822=) | |
| 5 | g.128357331G>T | CA360767399 | FBN2 | c.2619C>A (p.Phe873Leu) c.2520C>A (p.Phe840Leu) c.2616C>A (p.Phe872Leu) c.2466C>A (p.Phe822Leu) | dbSNP |
| 5 | g.128357332A>C | CA360767400 | FBN2 | c.2618T>G (p.Phe873Cys) c.2519T>G (p.Phe840Cys) c.2615T>G (p.Phe872Cys) c.2465T>G (p.Phe822Cys) | |
| 5 | g.128357332A>G | CA360767401 | FBN2 | c.2618T>C (p.Phe873Ser) c.2519T>C (p.Phe840Ser) c.2615T>C (p.Phe872Ser) c.2465T>C (p.Phe822Ser) | |
| 5 | g.128357332A>T | CA360767402 | FBN2 | c.2618T>A (p.Phe873Tyr) c.2519T>A (p.Phe840Tyr) c.2615T>A (p.Phe872Tyr) c.2465T>A (p.Phe822Tyr) | |
| 5 | g.128357333A= | CA1581282276 | FBN2 | c.2617T= (p.Phe873=) c.2518T= (p.Phe840=) c.2614T= (p.Phe872=) c.2464T= (p.Phe822=) | |
| 5 | g.128357333A>C | CA360767403 | FBN2 | c.2617T>G (p.Phe873Val) c.2518T>G (p.Phe840Val) c.2614T>G (p.Phe872Val) c.2464T>G (p.Phe822Val) | |
| 5 | g.128357333A>G | CA360767404 | FBN2 | c.2617T>C (p.Phe873Leu) c.2518T>C (p.Phe840Leu) c.2614T>C (p.Phe872Leu) c.2464T>C (p.Phe822Leu) | |
| 5 | g.128357333A>T | CA360767405 | FBN2 | c.2617T>A (p.Phe873Ile) c.2518T>A (p.Phe840Ile) c.2614T>A (p.Phe872Ile) c.2464T>A (p.Phe822Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.128357334A>C | CA446312328 | FBN2 | c.2616T>G (p.Ser872=) c.2517T>G (p.Ser839=) c.2613T>G (p.Ser871=) c.2463T>G (p.Ser821=) | |
| 5 | g.128357334A>G | CA446312329 | FBN2 | c.2616T>C (p.Ser872=) c.2517T>C (p.Ser839=) c.2613T>C (p.Ser871=) c.2463T>C (p.Ser821=) | |
| 5 | g.128357334A>T | CA446312330 | FBN2 | c.2616T>A (p.Ser872=) c.2517T>A (p.Ser839=) c.2613T>A (p.Ser871=) c.2463T>A (p.Ser821=) | |
| 5 | g.128357335G>A | CA360767408 | FBN2 | c.2615C>T (p.Ser872Phe) c.2516C>T (p.Ser839Phe) c.2612C>T (p.Ser871Phe) c.2462C>T (p.Ser821Phe) | |
| 5 | g.128357335G>C | CA360767407 | FBN2 | c.2615C>G (p.Ser872Cys) c.2516C>G (p.Ser839Cys) c.2612C>G (p.Ser871Cys) c.2462C>G (p.Ser821Cys) | |
| 5 | g.128357335G>T | CA360767406 | FBN2 | c.2615C>A (p.Ser872Tyr) c.2516C>A (p.Ser839Tyr) c.2612C>A (p.Ser871Tyr) c.2462C>A (p.Ser821Tyr) | ClinVar |
| 5 | g.128357336A>C | CA360767409 | FBN2 | c.2614T>G (p.Ser872Ala) c.2515T>G (p.Ser839Ala) c.2611T>G (p.Ser871Ala) c.2461T>G (p.Ser821Ala) | |
| 5 | g.128357336A>G | CA360767410 | FBN2 | c.2614T>C (p.Ser872Pro) c.2515T>C (p.Ser839Pro) c.2611T>C (p.Ser871Pro) c.2461T>C (p.Ser821Pro) | |
| 5 | g.128357336A>T | CA360767411 | FBN2 | c.2614T>A (p.Ser872Thr) c.2515T>A (p.Ser839Thr) c.2611T>A (p.Ser871Thr) c.2461T>A (p.Ser821Thr) | gnomAD v4 |
| 5 | g.128357337T>A | CA446312334 | FBN2 | c.2613A>T (p.Gly871=) c.2514A>T (p.Gly838=) c.2610A>T (p.Gly870=) c.2460A>T (p.Gly820=) | |
| 5 | g.128357337T>C | CA446312332 | FBN2 | c.2613A>G (p.Gly871=) c.2514A>G (p.Gly838=) c.2610A>G (p.Gly870=) c.2460A>G (p.Gly820=) | |
| 5 | g.128357337T>G | CA446312333 | FBN2 | c.2613A>C (p.Gly871=) c.2514A>C (p.Gly838=) c.2610A>C (p.Gly870=) c.2460A>C (p.Gly820=) | |
| 5 | g.128357338C>A | CA360767412 | FBN2 | c.2612G>T (p.Gly871Val) c.2513G>T (p.Gly838Val) c.2609G>T (p.Gly870Val) c.2459G>T (p.Gly820Val) | |
| 5 | g.128357338C>G | CA360767413 | FBN2 | c.2612G>C (p.Gly871Ala) c.2513G>C (p.Gly838Ala) c.2609G>C (p.Gly870Ala) c.2459G>C (p.Gly820Ala) | |
| 5 | g.128357338C>T | CA360767414 | FBN2 | c.2612G>A (p.Gly871Glu) c.2513G>A (p.Gly838Glu) c.2609G>A (p.Gly870Glu) c.2459G>A (p.Gly820Glu) | |
| 5 | g.128357339C>A | CA360767415 | FBN2 | c.2611G>T (p.Gly871Ter) c.2512G>T (p.Gly838Ter) c.2608G>T (p.Gly870Ter) c.2458G>T (p.Gly820Ter) | |
| 5 | g.128357339C= | CA1581282277 | FBN2 | c.2611G= (p.Gly871=) c.2512G= (p.Gly838=) c.2608G= (p.Gly870=) c.2458G= (p.Gly820=) | |
| 5 | g.128357339C>G | CA360767417 | FBN2 | c.2611G>C (p.Gly871Arg) c.2512G>C (p.Gly838Arg) c.2608G>C (p.Gly870Arg) c.2458G>C (p.Gly820Arg) | ClinVar dbSNP |