Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.128357316C>A | CA16611689 | FBN2 | c.2634G>T (p.Ser878=) c.2535G>T (p.Ser845=) c.2631G>T (p.Ser877=) c.2481G>T (p.Ser827=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128357316C= | CA1581282267 | FBN2 | c.2634G= (p.Ser878=) c.2535G= (p.Ser845=) c.2631G= (p.Ser877=) c.2481G= (p.Ser827=) | |
5 | g.128357316C>G | CA446312324 | FBN2 | c.2634G>C (p.Ser878=) c.2535G>C (p.Ser845=) c.2631G>C (p.Ser877=) c.2481G>C (p.Ser827=) | |
5 | g.128357316C>T | CA3395489 | FBN2 | c.2634G>A (p.Ser878=) c.2535G>A (p.Ser845=) c.2631G>A (p.Ser877=) c.2481G>A (p.Ser827=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128357317G>A | CA3395490 | FBN2 | c.2633C>T (p.Ser878Leu) c.2534C>T (p.Ser845Leu) c.2630C>T (p.Ser877Leu) c.2480C>T (p.Ser827Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
5 | g.128357317G>C | CA360767362 | FBN2 | c.2633C>G (p.Ser878Trp) c.2534C>G (p.Ser845Trp) c.2630C>G (p.Ser877Trp) c.2480C>G (p.Ser827Trp) | |
5 | g.128357317G= | CA1581282268 | FBN2 | c.2633C= (p.Ser878=) c.2534C= (p.Ser845=) c.2630C= (p.Ser877=) c.2480C= (p.Ser827=) | |
5 | g.128357317G>T | CA360767363 | FBN2 | c.2633C>A (p.Ser878Ter) c.2534C>A (p.Ser845Ter) c.2630C>A (p.Ser877Ter) c.2480C>A (p.Ser827Ter) | |
5 | g.128357318A>C | CA360767364 | FBN2 | c.2632T>G (p.Ser878Ala) c.2533T>G (p.Ser845Ala) c.2629T>G (p.Ser877Ala) c.2479T>G (p.Ser827Ala) | |
5 | g.128357318A>G | CA360767365 | FBN2 | c.2632T>C (p.Ser878Pro) c.2533T>C (p.Ser845Pro) c.2629T>C (p.Ser877Pro) c.2479T>C (p.Ser827Pro) | |
5 | g.128357318A>T | CA360767366 | FBN2 | c.2632T>A (p.Ser878Thr) c.2533T>A (p.Ser845Thr) c.2629T>A (p.Ser877Thr) c.2479T>A (p.Ser827Thr) | |
5 | g.128357319A= | CA1581282269 | FBN2 | c.2631T= (p.Cys877=) c.2532T= (p.Cys844=) c.2628T= (p.Cys876=) c.2478T= (p.Cys826=) | |
5 | g.128357319A>C | CA360767368 | FBN2 | c.2631T>G (p.Cys877Trp) c.2532T>G (p.Cys844Trp) c.2628T>G (p.Cys876Trp) c.2478T>G (p.Cys826Trp) | |
5 | g.128357319A>G | CA446312325 | FBN2 | c.2631T>C (p.Cys877=) c.2532T>C (p.Cys844=) c.2628T>C (p.Cys876=) c.2478T>C (p.Cys826=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.128357319A>T | CA360767367 | FBN2 | c.2631T>A (p.Cys877Ter) c.2532T>A (p.Cys844Ter) c.2628T>A (p.Cys876Ter) c.2478T>A (p.Cys826Ter) | |
5 | g.128357320C>A | CA360767369 | FBN2 | c.2630G>T (p.Cys877Phe) c.2531G>T (p.Cys844Phe) c.2627G>T (p.Cys876Phe) c.2477G>T (p.Cys826Phe) | |
5 | g.128357320C= | CA1581282270 | FBN2 | c.2630G= (p.Cys877=) c.2531G= (p.Cys844=) c.2627G= (p.Cys876=) c.2477G= (p.Cys826=) | |
5 | g.128357320C>G | CA3395491 | FBN2 | c.2630G>C (p.Cys877Ser) c.2531G>C (p.Cys844Ser) c.2627G>C (p.Cys876Ser) c.2477G>C (p.Cys826Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128357320C>T | CA360767370 | FBN2 | c.2630G>A (p.Cys877Tyr) c.2531G>A (p.Cys844Tyr) c.2627G>A (p.Cys876Tyr) c.2477G>A (p.Cys826Tyr) | |
5 | g.128357321A>C | CA360767371 | FBN2 | c.2629T>G (p.Cys877Gly) c.2530T>G (p.Cys844Gly) c.2626T>G (p.Cys876Gly) c.2476T>G (p.Cys826Gly) | |
5 | g.128357321A>G | CA360767372 | FBN2 | c.2629T>C (p.Cys877Arg) c.2530T>C (p.Cys844Arg) c.2626T>C (p.Cys876Arg) c.2476T>C (p.Cys826Arg) | |
5 | g.128357321A>T | CA360767373 | FBN2 | c.2629T>A (p.Cys877Ser) c.2530T>A (p.Cys844Ser) c.2626T>A (p.Cys876Ser) c.2476T>A (p.Cys826Ser) | |
5 | g.128357322T>A | CA360767374 | FBN2 | c.2628A>T (p.Glu876Asp) c.2529A>T (p.Glu843Asp) c.2625A>T (p.Glu875Asp) c.2475A>T (p.Glu825Asp) | |
5 | g.128357322T>C | CA3395492 | FBN2 | c.2628A>G (p.Glu876=) c.2529A>G (p.Glu843=) c.2625A>G (p.Glu875=) c.2475A>G (p.Glu825=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128357322T>G | CA360767375 | FBN2 | c.2628A>C (p.Glu876Asp) c.2529A>C (p.Glu843Asp) c.2625A>C (p.Glu875Asp) c.2475A>C (p.Glu825Asp) | |
5 | g.128357322T= | CA1581282271 | FBN2 | c.2628A= (p.Glu876=) c.2529A= (p.Glu843=) c.2625A= (p.Glu875=) c.2475A= (p.Glu825=) | |
5 | g.128357323T>A | CA360767376 | FBN2 | c.2627A>T (p.Glu876Val) c.2528A>T (p.Glu843Val) c.2624A>T (p.Glu875Val) c.2474A>T (p.Glu825Val) | |
5 | g.128357323T>C | CA360767377 | FBN2 | c.2627A>G (p.Glu876Gly) c.2528A>G (p.Glu843Gly) c.2624A>G (p.Glu875Gly) c.2474A>G (p.Glu825Gly) | |
5 | g.128357323T>G | CA360767378 | FBN2 | c.2627A>C (p.Glu876Ala) c.2528A>C (p.Glu843Ala) c.2624A>C (p.Glu875Ala) c.2474A>C (p.Glu825Ala) | |
5 | g.128357324C>A | CA360767379 | FBN2 | c.2626G>T (p.Glu876Ter) c.2527G>T (p.Glu843Ter) c.2623G>T (p.Glu875Ter) c.2473G>T (p.Glu825Ter) | |
5 | g.128357324C>G | CA360767380 | FBN2 | c.2626G>C (p.Glu876Gln) c.2527G>C (p.Glu843Gln) c.2623G>C (p.Glu875Gln) c.2473G>C (p.Glu825Gln) | |
5 | g.128357324C>T | CA360767381 | FBN2 | c.2626G>A (p.Glu876Lys) c.2527G>A (p.Glu843Lys) c.2623G>A (p.Glu875Lys) c.2473G>A (p.Glu825Lys) | |
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 |