SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
ALLELE REGISTRY - SERVICE INTERRUPTION2024-08-10T11:00:00-0500 — 2024-08-10T15:00:00-0500
The ClinGen Allele Registry will have an off-hours outage to perform maintenance tasks.
The outage will not take the entire interruption period.
The ClinGen Allele Registry will have an off-hours outage to perform maintenance tasks.
The outage will not take the entire interruption period.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.128357274A>C | CA360767229 | FBN2 | c.2674+2T>G (n.2674+2T>G) c.2575+2T>G (n.2575+2T>G) c.2671+2T>G (n.2671+2T>G) c.2521+2T>G (n.2521+2T>G) | |
| 5 | g.128357274A>G | CA360767230 | FBN2 | c.2674+2T>C (n.2674+2T>C) c.2575+2T>C (n.2575+2T>C) c.2671+2T>C (n.2671+2T>C) c.2521+2T>C (n.2521+2T>C) | |
| 5 | g.128357274A>T | CA360767232 | FBN2 | c.2674+2T>A (n.2674+2T>A) c.2575+2T>A (n.2575+2T>A) c.2671+2T>A (n.2671+2T>A) c.2521+2T>A (n.2521+2T>A) | |
| 5 | g.128357275C>A | CA360767233 | FBN2 | c.2674+1G>T (n.2674+1G>T) c.2575+1G>T (n.2575+1G>T) c.2671+1G>T (n.2671+1G>T) c.2521+1G>T (n.2521+1G>T) | |
| 5 | g.128357275C>G | CA360767235 | FBN2 | c.2674+1G>C (n.2674+1G>C) c.2575+1G>C (n.2575+1G>C) c.2671+1G>C (n.2671+1G>C) c.2521+1G>C (n.2521+1G>C) | |
| 5 | g.128357275C>T | CA360767236 | FBN2 | c.2674+1G>A (n.2674+1G>A) c.2575+1G>A (n.2575+1G>A) c.2671+1G>A (n.2671+1G>A) c.2521+1G>A (n.2521+1G>A) | |
| 5 | g.128357276C>A | CA360767238 | FBN2 | c.2674G>T (p.Asp892Tyr) c.2575G>T (p.Asp859Tyr) c.2671G>T (p.Asp891Tyr) c.2521G>T (p.Asp841Tyr) | |
| 5 | g.128357276C>G | CA360767240 | FBN2 | c.2674G>C (p.Asp892His) c.2575G>C (p.Asp859His) c.2671G>C (p.Asp891His) c.2521G>C (p.Asp841His) | |
| 5 | g.128357276C>T | CA360767242 | FBN2 | c.2674G>A (p.Asp892Asn) c.2575G>A (p.Asp859Asn) c.2671G>A (p.Asp891Asn) c.2521G>A (p.Asp841Asn) | |
| 5 | g.128357277A>C | CA360767245 | FBN2 | c.2673T>G (p.Ile891Met) c.2574T>G (p.Ile858Met) c.2670T>G (p.Ile890Met) c.2520T>G (p.Ile840Met) | |
| 5 | g.128357277A>G | CA446312298 | FBN2 | c.2673T>C (p.Ile891=) c.2574T>C (p.Ile858=) c.2670T>C (p.Ile890=) c.2520T>C (p.Ile840=) | |
| 5 | g.128357277A>T | CA446312299 | FBN2 | c.2673T>A (p.Ile891=) c.2574T>A (p.Ile858=) c.2670T>A (p.Ile890=) c.2520T>A (p.Ile840=) | |
| 5 | g.128357278A>C | CA360767246 | FBN2 | c.2672T>G (p.Ile891Ser) c.2573T>G (p.Ile858Ser) c.2669T>G (p.Ile890Ser) c.2519T>G (p.Ile840Ser) | |
| 5 | g.128357278A>G | CA360767248 | FBN2 | c.2672T>C (p.Ile891Thr) c.2573T>C (p.Ile858Thr) c.2669T>C (p.Ile890Thr) c.2519T>C (p.Ile840Thr) | |
| 5 | g.128357278A>T | CA360767250 | FBN2 | c.2672T>A (p.Ile891Asn) c.2573T>A (p.Ile858Asn) c.2669T>A (p.Ile890Asn) c.2519T>A (p.Ile840Asn) | |
| 5 | g.128357279T>A | CA360767252 | FBN2 | c.2671A>T (p.Ile891Phe) c.2572A>T (p.Ile858Phe) c.2668A>T (p.Ile890Phe) c.2518A>T (p.Ile840Phe) | |
| 5 | g.128357279T>C | CA360767255 | FBN2 | c.2671A>G (p.Ile891Val) c.2572A>G (p.Ile858Val) c.2668A>G (p.Ile890Val) c.2518A>G (p.Ile840Val) | dbSNP gnomAD v4 COSMIC COSMIC |
| 5 | g.128357279T>G | CA360767254 | FBN2 | c.2671A>C (p.Ile891Leu) c.2572A>C (p.Ile858Leu) c.2668A>C (p.Ile890Leu) c.2518A>C (p.Ile840Leu) | |
| 5 | g.128357279T= | CA1581282249 | FBN2 | c.2671A= (p.Ile891=) c.2572A= (p.Ile858=) c.2668A= (p.Ile890=) c.2518A= (p.Ile840=) | |
| 5 | g.128357280A= | CA1581282250 | FBN2 | c.2670T= (p.Cys890=) c.2571T= (p.Cys857=) c.2667T= (p.Cys889=) c.2517T= (p.Cys839=) | |
| 5 | g.128357280A>C | CA360767256 | FBN2 | c.2670T>G (p.Cys890Trp) c.2571T>G (p.Cys857Trp) c.2667T>G (p.Cys889Trp) c.2517T>G (p.Cys839Trp) | |
| 5 | g.128357280A>G | CA446312300 | FBN2 | c.2670T>C (p.Cys890=) c.2571T>C (p.Cys857=) c.2667T>C (p.Cys889=) c.2517T>C (p.Cys839=) | ClinVar dbSNP gnomAD v2 |
| 5 | g.128357280A>T | CA360767257 | FBN2 | c.2670T>A (p.Cys890Ter) c.2571T>A (p.Cys857Ter) c.2667T>A (p.Cys889Ter) c.2517T>A (p.Cys839Ter) | |
| 5 | g.128357281C>A | CA360767259 | FBN2 | c.2669G>T (p.Cys890Phe) c.2570G>T (p.Cys857Phe) c.2666G>T (p.Cys889Phe) c.2516G>T (p.Cys839Phe) | gnomAD v4 |
| 5 | g.128357281C>G | CA360767264 | FBN2 | c.2669G>C (p.Cys890Ser) c.2570G>C (p.Cys857Ser) c.2666G>C (p.Cys889Ser) c.2516G>C (p.Cys839Ser) | |
| 5 | g.128357281C>T | CA360767266 | FBN2 | c.2669G>A (p.Cys890Tyr) c.2570G>A (p.Cys857Tyr) c.2666G>A (p.Cys889Tyr) c.2516G>A (p.Cys839Tyr) | gnomAD v4 |
| 5 | g.128357282A= | CA1581282251 | FBN2 | c.2668T= (p.Cys890=) c.2569T= (p.Cys857=) c.2665T= (p.Cys889=) c.2515T= (p.Cys839=) | |
| 5 | g.128357282A>C | CA360767268 | FBN2 | c.2668T>G (p.Cys890Gly) c.2569T>G (p.Cys857Gly) c.2665T>G (p.Cys889Gly) c.2515T>G (p.Cys839Gly) | |
| 5 | g.128357282A>G | CA360767270 | FBN2 | c.2668T>C (p.Cys890Arg) c.2569T>C (p.Cys857Arg) c.2665T>C (p.Cys889Arg) c.2515T>C (p.Cys839Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128357282A>T | CA360767272 | FBN2 | c.2668T>A (p.Cys890Ser) c.2569T>A (p.Cys857Ser) c.2665T>A (p.Cys889Ser) c.2515T>A (p.Cys839Ser) | |
| 5 | g.128357283G>A | CA446312301 | FBN2 | c.2667C>T (p.Ile889=) c.2568C>T (p.Ile856=) c.2664C>T (p.Ile888=) c.2514C>T (p.Ile838=) | |
| 5 | g.128357283G>C | CA360767274 | FBN2 | c.2667C>G (p.Ile889Met) c.2568C>G (p.Ile856Met) c.2664C>G (p.Ile888Met) c.2514C>G (p.Ile838Met) | |
| 5 | g.128357283G>T | CA446312302 | FBN2 | c.2667C>A (p.Ile889=) c.2568C>A (p.Ile856=) c.2664C>A (p.Ile888=) c.2514C>A (p.Ile838=) | |
| 5 | g.128357284A>C | CA360767277 | FBN2 | c.2666T>G (p.Ile889Ser) c.2567T>G (p.Ile856Ser) c.2663T>G (p.Ile888Ser) c.2513T>G (p.Ile838Ser) | |
| 5 | g.128357284A>G | CA360767278 | FBN2 | c.2666T>C (p.Ile889Thr) c.2567T>C (p.Ile856Thr) c.2663T>C (p.Ile888Thr) c.2513T>C (p.Ile838Thr) | |
| 5 | g.128357284A>T | CA360767280 | FBN2 | c.2666T>A (p.Ile889Asn) c.2567T>A (p.Ile856Asn) c.2663T>A (p.Ile888Asn) c.2513T>A (p.Ile838Asn) | |
| 5 | g.128357285T>A | CA360767285 | FBN2 | c.2665A>T (p.Ile889Phe) c.2566A>T (p.Ile856Phe) c.2662A>T (p.Ile888Phe) c.2512A>T (p.Ile838Phe) | gnomAD v4 |
| 5 | g.128357285T>C | CA360767282 | FBN2 | c.2665A>G (p.Ile889Val) c.2566A>G (p.Ile856Val) c.2662A>G (p.Ile888Val) c.2512A>G (p.Ile838Val) | gnomAD v4 |
| 5 | g.128357285T>G | CA360767283 | FBN2 | c.2665A>C (p.Ile889Leu) c.2566A>C (p.Ile856Leu) c.2662A>C (p.Ile888Leu) c.2512A>C (p.Ile838Leu) | |
| 5 | g.128357286C>A | CA360767286 | FBN2 | c.2664G>T (p.Leu888Phe) c.2565G>T (p.Leu855Phe) c.2661G>T (p.Leu887Phe) c.2511G>T (p.Leu837Phe) | |
| 5 | g.128357286C>G | CA360767288 | FBN2 | c.2664G>C (p.Leu888Phe) c.2565G>C (p.Leu855Phe) c.2661G>C (p.Leu887Phe) c.2511G>C (p.Leu837Phe) | |
| 5 | g.128357286C>T | CA446312303 | FBN2 | c.2664G>A (p.Leu888=) c.2565G>A (p.Leu855=) c.2661G>A (p.Leu887=) c.2511G>A (p.Leu837=) | gnomAD v4 |
| 5 | g.128357287A>C | CA360767290 | FBN2 | c.2663T>G (p.Leu888Trp) c.2564T>G (p.Leu855Trp) c.2660T>G (p.Leu887Trp) c.2510T>G (p.Leu837Trp) | |
| 5 | g.128357287A>G | CA360767292 | FBN2 | c.2663T>C (p.Leu888Ser) c.2564T>C (p.Leu855Ser) c.2660T>C (p.Leu887Ser) c.2510T>C (p.Leu837Ser) | |
| 5 | g.128357287A>T | CA360767293 | FBN2 | c.2663T>A (p.Leu888Ter) c.2564T>A (p.Leu855Ter) c.2660T>A (p.Leu887Ter) c.2510T>A (p.Leu837Ter) | |
| 5 | g.128357288A= | CA1581282252 | FBN2 | c.2662T= (p.Leu888=) c.2563T= (p.Leu855=) c.2659T= (p.Leu887=) c.2509T= (p.Leu837=) | |
| 5 | g.128357288A>C | CA360767294 | FBN2 | c.2662T>G (p.Leu888Val) c.2563T>G (p.Leu855Val) c.2659T>G (p.Leu887Val) c.2509T>G (p.Leu837Val) | |
| 5 | g.128357288A>G | CA446312304 | FBN2 | c.2662T>C (p.Leu888=) c.2563T>C (p.Leu855=) c.2659T>C (p.Leu887=) c.2509T>C (p.Leu837=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128357288A>T | CA360767295 | FBN2 | c.2662T>A (p.Leu888Met) c.2563T>A (p.Leu855Met) c.2659T>A (p.Leu887Met) c.2509T>A (p.Leu837Met) | |
| 5 | g.128357289T>A | CA446312306 | FBN2 | c.2661A>T (p.Gly887=) c.2562A>T (p.Gly854=) c.2658A>T (p.Gly886=) c.2508A>T (p.Gly836=) | |
| 5 | g.128357289T>C | CA3395485 | FBN2 | c.2661A>G (p.Gly887=) c.2562A>G (p.Gly854=) c.2658A>G (p.Gly886=) c.2508A>G (p.Gly836=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128357289T>G | CA446312305 | FBN2 | c.2661A>C (p.Gly887=) c.2562A>C (p.Gly854=) c.2658A>C (p.Gly886=) c.2508A>C (p.Gly836=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128357289T= | CA1581282253 | FBN2 | c.2661A= (p.Gly887=) c.2562A= (p.Gly854=) c.2658A= (p.Gly886=) c.2508A= (p.Gly836=) | |
| 5 | g.128357290C>A | CA360767296 | FBN2 | c.2660G>T (p.Gly887Val) c.2561G>T (p.Gly854Val) c.2657G>T (p.Gly886Val) c.2507G>T (p.Gly836Val) | |
| 5 | g.128357290C= | CA1581282254 | FBN2 | c.2660G= (p.Gly887=) c.2561G= (p.Gly854=) c.2657G= (p.Gly886=) c.2507G= (p.Gly836=) | |
| 5 | g.128357290C>G | CA3395486 | FBN2 | c.2660G>C (p.Gly887Ala) c.2561G>C (p.Gly854Ala) c.2657G>C (p.Gly886Ala) c.2507G>C (p.Gly836Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128357290C>T | CA360767297 | FBN2 | c.2660G>A (p.Gly887Glu) c.2561G>A (p.Gly854Glu) c.2657G>A (p.Gly886Glu) c.2507G>A (p.Gly836Glu) | |
| 5 | g.128357291C>A | CA360767299 | FBN2 | c.2659G>T (p.Gly887Ter) c.2560G>T (p.Gly854Ter) c.2656G>T (p.Gly886Ter) c.2506G>T (p.Gly836Ter) | |
| 5 | g.128357291C= | CA1581282255 | FBN2 | c.2659G= (p.Gly887=) c.2560G= (p.Gly854=) c.2656G= (p.Gly886=) c.2506G= (p.Gly836=) | |
| 5 | g.128357291C>G | CA360767300 | FBN2 | c.2659G>C (p.Gly887Arg) c.2560G>C (p.Gly854Arg) c.2656G>C (p.Gly886Arg) c.2506G>C (p.Gly836Arg) | |
| 5 | g.128357291C>T | CA360767298 | FBN2 | c.2659G>A (p.Gly887Arg) c.2560G>A (p.Gly854Arg) c.2656G>A (p.Gly886Arg) c.2506G>A (p.Gly836Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128357292T>A | CA446312309 | FBN2 | c.2658A>T (p.Thr886=) c.2559A>T (p.Thr853=) c.2655A>T (p.Thr885=) c.2505A>T (p.Thr835=) | |
| 5 | g.128357292T>C | CA446312308 | FBN2 | c.2658A>G (p.Thr886=) c.2559A>G (p.Thr853=) c.2655A>G (p.Thr885=) c.2505A>G (p.Thr835=) | dbSNP |
| 5 | g.128357292T>G | CA446312307 | FBN2 | c.2658A>C (p.Thr886=) c.2559A>C (p.Thr853=) c.2655A>C (p.Thr885=) c.2505A>C (p.Thr835=) | |
| 5 | g.128357292T= | CA1581282256 | FBN2 | c.2658A= (p.Thr886=) c.2559A= (p.Thr853=) c.2655A= (p.Thr885=) c.2505A= (p.Thr835=) | |
| 5 | g.128357293G>A | CA360767305 | FBN2 | c.2657C>T (p.Thr886Ile) c.2558C>T (p.Thr853Ile) c.2654C>T (p.Thr885Ile) c.2504C>T (p.Thr835Ile) | |
| 5 | g.128357293G>C | CA360767302 | FBN2 | c.2657C>G (p.Thr886Arg) c.2558C>G (p.Thr853Arg) c.2654C>G (p.Thr885Arg) c.2504C>G (p.Thr835Arg) | |
| 5 | g.128357293G>T | CA360767303 | FBN2 | c.2657C>A (p.Thr886Lys) c.2558C>A (p.Thr853Lys) c.2654C>A (p.Thr885Lys) c.2504C>A (p.Thr835Lys) | |
| 5 | g.128357294T>A | CA360767307 | FBN2 | c.2656A>T (p.Thr886Ser) c.2557A>T (p.Thr853Ser) c.2653A>T (p.Thr885Ser) c.2503A>T (p.Thr835Ser) | |
| 5 | g.128357294T>C | CA360767308 | FBN2 | c.2656A>G (p.Thr886Ala) c.2557A>G (p.Thr853Ala) c.2653A>G (p.Thr885Ala) c.2503A>G (p.Thr835Ala) | |
| 5 | g.128357294T>G | CA360767309 | FBN2 | c.2656A>C (p.Thr886Pro) c.2557A>C (p.Thr853Pro) c.2653A>C (p.Thr885Pro) c.2503A>C (p.Thr835Pro) | |
| 5 | g.128357295G>A | CA446312310 | FBN2 | c.2655C>T (p.Ser885=) c.2556C>T (p.Ser852=) c.2652C>T (p.Ser884=) c.2502C>T (p.Ser834=) | gnomAD v4 |
| 5 | g.128357295G>C | CA446312312 | FBN2 | c.2655C>G (p.Ser885=) c.2556C>G (p.Ser852=) c.2652C>G (p.Ser884=) c.2502C>G (p.Ser834=) | |
| 5 | g.128357295G>T | CA446312311 | FBN2 | c.2655C>A (p.Ser885=) c.2556C>A (p.Ser852=) c.2652C>A (p.Ser884=) c.2502C>A (p.Ser834=) | |
| 5 | g.128357296G>A | CA360767310 | FBN2 | c.2654C>T (p.Ser885Phe) c.2555C>T (p.Ser852Phe) c.2651C>T (p.Ser884Phe) c.2501C>T (p.Ser834Phe) | |
| 5 | g.128357296G>C | CA360767311 | FBN2 | c.2654C>G (p.Ser885Cys) c.2555C>G (p.Ser852Cys) c.2651C>G (p.Ser884Cys) c.2501C>G (p.Ser834Cys) | gnomAD v4 |
| 5 | g.128357296G= | CA1581282257 | FBN2 | c.2654C= (p.Ser885=) c.2555C= (p.Ser852=) c.2651C= (p.Ser884=) c.2501C= (p.Ser834=) | |
| 5 | g.128357296G>T | CA127026841 | FBN2 | c.2654C>A (p.Ser885Tyr) c.2555C>A (p.Ser852Tyr) c.2651C>A (p.Ser884Tyr) c.2501C>A (p.Ser834Tyr) | dbSNP |
| 5 | g.128357297A>C | CA360767314 | FBN2 | c.2653T>G (p.Ser885Ala) c.2554T>G (p.Ser852Ala) c.2650T>G (p.Ser884Ala) c.2500T>G (p.Ser834Ala) | |
| 5 | g.128357297A>G | CA360767316 | FBN2 | c.2653T>C (p.Ser885Pro) c.2554T>C (p.Ser852Pro) c.2650T>C (p.Ser884Pro) c.2500T>C (p.Ser834Pro) | |
| 5 | g.128357297A>T | CA360767317 | FBN2 | c.2653T>A (p.Ser885Thr) c.2554T>A (p.Ser852Thr) c.2650T>A (p.Ser884Thr) c.2500T>A (p.Ser834Thr) | |
| 5 | g.128357298G>A | CA446312313 | FBN2 | c.2652C>T (p.Ser884=) c.2553C>T (p.Ser851=) c.2649C>T (p.Ser883=) c.2499C>T (p.Ser833=) | gnomAD v4 |
| 5 | g.128357298G>C | CA360767319 | FBN2 | c.2652C>G (p.Ser884Arg) c.2553C>G (p.Ser851Arg) c.2649C>G (p.Ser883Arg) c.2499C>G (p.Ser833Arg) | |
| 5 | g.128357298G>T | CA360767321 | FBN2 | c.2652C>A (p.Ser884Arg) c.2553C>A (p.Ser851Arg) c.2649C>A (p.Ser883Arg) c.2499C>A (p.Ser833Arg) | |
| 5 | g.128357299C>A | CA360767322 | FBN2 | c.2651G>T (p.Ser884Ile) c.2552G>T (p.Ser851Ile) c.2648G>T (p.Ser883Ile) c.2498G>T (p.Ser833Ile) | |
| 5 | g.128357299C= | CA1581282258 | FBN2 | c.2651G= (p.Ser884=) c.2552G= (p.Ser851=) c.2648G= (p.Ser883=) c.2498G= (p.Ser833=) | |
| 5 | g.128357299C>G | CA322791 | FBN2 | c.2651G>C (p.Ser884Thr) c.2552G>C (p.Ser851Thr) c.2648G>C (p.Ser883Thr) c.2498G>C (p.Ser833Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128357299C>T | CA360767326 | FBN2 | c.2651G>A (p.Ser884Asn) c.2552G>A (p.Ser851Asn) c.2648G>A (p.Ser883Asn) c.2498G>A (p.Ser833Asn) | dbSNP |
| 5 | g.128357300T>A | CA360767329 | FBN2 | c.2650A>T (p.Ser884Cys) c.2551A>T (p.Ser851Cys) c.2647A>T (p.Ser883Cys) c.2497A>T (p.Ser833Cys) | |
| 5 | g.128357300T>C | CA360767330 | FBN2 | c.2650A>G (p.Ser884Gly) c.2551A>G (p.Ser851Gly) c.2647A>G (p.Ser883Gly) c.2497A>G (p.Ser833Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128357300T>G | CA360767331 | FBN2 | c.2650A>C (p.Ser884Arg) c.2551A>C (p.Ser851Arg) c.2647A>C (p.Ser883Arg) c.2497A>C (p.Ser833Arg) | gnomAD v4 |
| 5 | g.128357300T= | CA1581282259 | FBN2 | c.2650A= (p.Ser884=) c.2551A= (p.Ser851=) c.2647A= (p.Ser883=) c.2497A= (p.Ser833=) | |
| 5 | g.128357301G>A | CA446312314 | FBN2 | c.2649C>T (p.Leu883=) c.2550C>T (p.Leu850=) c.2646C>T (p.Leu882=) c.2496C>T (p.Leu832=) | |
| 5 | g.128357301G>C | CA446312315 | FBN2 | c.2649C>G (p.Leu883=) c.2550C>G (p.Leu850=) c.2646C>G (p.Leu882=) c.2496C>G (p.Leu832=) | gnomAD v4 |
| 5 | g.128357301G>T | CA446312316 | FBN2 | c.2649C>A (p.Leu883=) c.2550C>A (p.Leu850=) c.2646C>A (p.Leu882=) c.2496C>A (p.Leu832=) | |
| 5 | g.128357302A>C | CA360767332 | FBN2 | c.2648T>G (p.Leu883Arg) c.2549T>G (p.Leu850Arg) c.2645T>G (p.Leu882Arg) c.2495T>G (p.Leu832Arg) | |
| 5 | g.128357302A>G | CA360767333 | FBN2 | c.2648T>C (p.Leu883Pro) c.2549T>C (p.Leu850Pro) c.2645T>C (p.Leu882Pro) c.2495T>C (p.Leu832Pro) | |
| 5 | g.128357302A>T | CA360767334 | FBN2 | c.2648T>A (p.Leu883His) c.2549T>A (p.Leu850His) c.2645T>A (p.Leu882His) c.2495T>A (p.Leu832His) | ClinVar |
| 5 | g.128357303G>A | CA360767335 | FBN2 | c.2647C>T (p.Leu883Phe) c.2548C>T (p.Leu850Phe) c.2644C>T (p.Leu882Phe) c.2494C>T (p.Leu832Phe) | |
| 5 | g.128357303G>C | CA360767336 | FBN2 | c.2647C>G (p.Leu883Val) c.2548C>G (p.Leu850Val) c.2644C>G (p.Leu882Val) c.2494C>G (p.Leu832Val) | |
| 5 | g.128357303G>T | CA360767337 | FBN2 | c.2647C>A (p.Leu883Ile) c.2548C>A (p.Leu850Ile) c.2644C>A (p.Leu882Ile) c.2494C>A (p.Leu832Ile) | |
| 5 | g.128357304T>A | CA360767338 | FBN2 | c.2646A>T (p.Lys882Asn) c.2547A>T (p.Lys849Asn) c.2643A>T (p.Lys881Asn) c.2493A>T (p.Lys831Asn) | |
| 5 | g.128357304T>C | CA127026858 | FBN2 | c.2646A>G (p.Lys882=) c.2547A>G (p.Lys849=) c.2643A>G (p.Lys881=) c.2493A>G (p.Lys831=) | ClinVar dbSNP |
| 5 | g.128357304T>G | CA360767339 | FBN2 | c.2646A>C (p.Lys882Asn) c.2547A>C (p.Lys849Asn) c.2643A>C (p.Lys881Asn) c.2493A>C (p.Lys831Asn) | COSMIC COSMIC |
| 5 | g.128357304T= | CA1581282260 | FBN2 | c.2646A= (p.Lys882=) c.2547A= (p.Lys849=) c.2643A= (p.Lys881=) c.2493A= (p.Lys831=) | |
| 5 | g.128357305T>A | CA360767341 | FBN2 | c.2645A>T (p.Lys882Ile) c.2546A>T (p.Lys849Ile) c.2642A>T (p.Lys881Ile) c.2492A>T (p.Lys831Ile) | |
| 5 | g.128357305T>C | CA360767342 | FBN2 | c.2645A>G (p.Lys882Arg) c.2546A>G (p.Lys849Arg) c.2642A>G (p.Lys881Arg) c.2492A>G (p.Lys831Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128357305T>G | CA360767340 | FBN2 | c.2645A>C (p.Lys882Thr) c.2546A>C (p.Lys849Thr) c.2642A>C (p.Lys881Thr) c.2492A>C (p.Lys831Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.128357305T= | CA1581282261 | FBN2 | c.2645A= (p.Lys882=) c.2546A= (p.Lys849=) c.2642A= (p.Lys881=) c.2492A= (p.Lys831=) | |
| 5 | g.128357306T>A | CA360767343 | FBN2 | c.2644A>T (p.Lys882Ter) c.2545A>T (p.Lys849Ter) c.2641A>T (p.Lys881Ter) c.2491A>T (p.Lys831Ter) | |
| 5 | g.128357306T>C | CA360767344 | FBN2 | c.2644A>G (p.Lys882Glu) c.2545A>G (p.Lys849Glu) c.2641A>G (p.Lys881Glu) c.2491A>G (p.Lys831Glu) | |
| 5 | g.128357306T>G | CA360767345 | FBN2 | c.2644A>C (p.Lys882Gln) c.2545A>C (p.Lys849Gln) c.2641A>C (p.Lys881Gln) c.2491A>C (p.Lys831Gln) | gnomAD v4 |
| 5 | g.128357307G>A | CA446312317 | FBN2 | c.2643C>T (p.Ser881=) c.2544C>T (p.Ser848=) c.2640C>T (p.Ser880=) c.2490C>T (p.Ser830=) | |
| 5 | g.128357307G>C | CA360767346 | FBN2 | c.2643C>G (p.Ser881Arg) c.2544C>G (p.Ser848Arg) c.2640C>G (p.Ser880Arg) c.2490C>G (p.Ser830Arg) | |
| 5 | g.128357307G>T | CA360767347 | FBN2 | c.2643C>A (p.Ser881Arg) c.2544C>A (p.Ser848Arg) c.2640C>A (p.Ser880Arg) c.2490C>A (p.Ser830Arg) | |
| 5 | g.128357308C>A | CA360767350 | FBN2 | c.2642G>T (p.Ser881Ile) c.2543G>T (p.Ser848Ile) c.2639G>T (p.Ser880Ile) c.2489G>T (p.Ser830Ile) | |
| 5 | g.128357308C>G | CA360767349 | FBN2 | c.2642G>C (p.Ser881Thr) c.2543G>C (p.Ser848Thr) c.2639G>C (p.Ser880Thr) c.2489G>C (p.Ser830Thr) | |
| 5 | g.128357308C>T | CA360767348 | FBN2 | c.2642G>A (p.Ser881Asn) c.2543G>A (p.Ser848Asn) c.2639G>A (p.Ser880Asn) c.2489G>A (p.Ser830Asn) | |
| 5 | g.128357309T>A | CA360767351 | FBN2 | c.2641A>T (p.Ser881Cys) c.2542A>T (p.Ser848Cys) c.2638A>T (p.Ser880Cys) c.2488A>T (p.Ser830Cys) | |
| 5 | g.128357309T>C | CA127026863 | FBN2 | c.2641A>G (p.Ser881Gly) c.2542A>G (p.Ser848Gly) c.2638A>G (p.Ser880Gly) c.2488A>G (p.Ser830Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.128357309T>G | CA360767352 | FBN2 | c.2641A>C (p.Ser881Arg) c.2542A>C (p.Ser848Arg) c.2638A>C (p.Ser880Arg) c.2488A>C (p.Ser830Arg) | |
| 5 | g.128357309T= | CA1581282262 | FBN2 | c.2641A= (p.Ser881=) c.2542A= (p.Ser848=) c.2638A= (p.Ser880=) c.2488A= (p.Ser830=) | |
| 5 | g.128357310G>A | CA446312318 | FBN2 | c.2640C>T (p.Gly880=) c.2541C>T (p.Gly847=) c.2637C>T (p.Gly879=) c.2487C>T (p.Gly829=) | gnomAD v4 COSMIC COSMIC |
| 5 | g.128357310G>C | CA446312319 | FBN2 | c.2640C>G (p.Gly880=) c.2541C>G (p.Gly847=) c.2637C>G (p.Gly879=) c.2487C>G (p.Gly829=) | |
| 5 | g.128357310G>T | CA446312320 | FBN2 | c.2640C>A (p.Gly880=) c.2541C>A (p.Gly847=) c.2637C>A (p.Gly879=) c.2487C>A (p.Gly829=) | |
| 5 | g.128357311C>A | CA360767353 | FBN2 | c.2639G>T (p.Gly880Val) c.2540G>T (p.Gly847Val) c.2636G>T (p.Gly879Val) c.2486G>T (p.Gly829Val) | |
| 5 | g.128357311C= | CA1581282263 | FBN2 | c.2639G= (p.Gly880=) c.2540G= (p.Gly847=) c.2636G= (p.Gly879=) c.2486G= (p.Gly829=) | |
| 5 | g.128357311C>G | CA360767354 | FBN2 | c.2639G>C (p.Gly880Ala) c.2540G>C (p.Gly847Ala) c.2636G>C (p.Gly879Ala) c.2486G>C (p.Gly829Ala) | |
| 5 | g.128357311C>T | CA3395487 | FBN2 | c.2639G>A (p.Gly880Asp) c.2540G>A (p.Gly847Asp) c.2636G>A (p.Gly879Asp) c.2486G>A (p.Gly829Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.128357312C>A | CA360767355 | FBN2 | c.2638G>T (p.Gly880Cys) c.2539G>T (p.Gly847Cys) c.2635G>T (p.Gly879Cys) c.2485G>T (p.Gly829Cys) | |
| 5 | g.128357312C= | CA1581282264 | FBN2 | c.2638G= (p.Gly880=) c.2539G= (p.Gly847=) c.2635G= (p.Gly879=) c.2485G= (p.Gly829=) | |
| 5 | g.128357312C>G | CA360767356 | FBN2 | c.2638G>C (p.Gly880Arg) c.2539G>C (p.Gly847Arg) c.2635G>C (p.Gly879Arg) c.2485G>C (p.Gly829Arg) | |
| 5 | g.128357312C>T | CA3395488 | FBN2 | c.2638G>A (p.Gly880Ser) c.2539G>A (p.Gly847Ser) c.2635G>A (p.Gly879Ser) c.2485G>A (p.Gly829Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128357313G>A | CA446312321 | FBN2 | c.2637C>T (p.Pro879=) c.2538C>T (p.Pro846=) c.2634C>T (p.Pro878=) c.2484C>T (p.Pro828=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.128357313G>C | CA446312322 | FBN2 | c.2637C>G (p.Pro879=) c.2538C>G (p.Pro846=) c.2634C>G (p.Pro878=) c.2484C>G (p.Pro828=) | |
| 5 | g.128357313G= | CA1581282265 | FBN2 | c.2637C= (p.Pro879=) c.2538C= (p.Pro846=) c.2634C= (p.Pro878=) c.2484C= (p.Pro828=) | |
| 5 | g.128357313G>T | CA446312323 | FBN2 | c.2637C>A (p.Pro879=) c.2538C>A (p.Pro846=) c.2634C>A (p.Pro878=) c.2484C>A (p.Pro828=) | COSMIC COSMIC |
| 5 | g.128357314G>A | CA360767357 | FBN2 | c.2636C>T (p.Pro879Leu) c.2537C>T (p.Pro846Leu) c.2633C>T (p.Pro878Leu) c.2483C>T (p.Pro828Leu) | |
| 5 | g.128357314G>C | CA360767358 | FBN2 | c.2636C>G (p.Pro879Arg) c.2537C>G (p.Pro846Arg) c.2633C>G (p.Pro878Arg) c.2483C>G (p.Pro828Arg) | |
| 5 | g.128357314G>T | CA360767359 | FBN2 | c.2636C>A (p.Pro879His) c.2537C>A (p.Pro846His) c.2633C>A (p.Pro878His) c.2483C>A (p.Pro828His) | |
| 5 | g.128357315G>A | CA127026875 | FBN2 | c.2635C>T (p.Pro879Ser) c.2536C>T (p.Pro846Ser) c.2632C>T (p.Pro878Ser) c.2482C>T (p.Pro828Ser) | dbSNP |
| 5 | g.128357315G>C | CA360767360 | FBN2 | c.2635C>G (p.Pro879Ala) c.2536C>G (p.Pro846Ala) c.2632C>G (p.Pro878Ala) c.2482C>G (p.Pro828Ala) | |
| 5 | g.128357315G= | CA1581282266 | FBN2 | c.2635C= (p.Pro879=) c.2536C= (p.Pro846=) c.2632C= (p.Pro878=) c.2482C= (p.Pro828=) | |
| 5 | g.128357315G>T | CA360767361 | FBN2 | c.2635C>A (p.Pro879Thr) c.2536C>A (p.Pro846Thr) c.2632C>A (p.Pro878Thr) c.2482C>A (p.Pro828Thr) | |
| 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 |
| 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 |
| 5 | g.128357339C>T | CA360767416 | FBN2 | c.2611G>A (p.Gly871Arg) c.2512G>A (p.Gly838Arg) c.2608G>A (p.Gly870Arg) c.2458G>A (p.Gly820Arg) | |
| 5 | g.128357340A>C | CA446312335 | FBN2 | c.2610T>G (p.Leu870=) c.2511T>G (p.Leu837=) c.2607T>G (p.Leu869=) c.2457T>G (p.Leu819=) | |
| 5 | g.128357340A>G | CA446312336 | FBN2 | c.2610T>C (p.Leu870=) c.2511T>C (p.Leu837=) c.2607T>C (p.Leu869=) c.2457T>C (p.Leu819=) | |
| 5 | g.128357340A>T | CA446312337 | FBN2 | c.2610T>A (p.Leu870=) c.2511T>A (p.Leu837=) c.2607T>A (p.Leu869=) c.2457T>A (p.Leu819=) | |
| 5 | g.128357341A>C | CA360767418 | FBN2 | c.2609T>G (p.Leu870Arg) c.2510T>G (p.Leu837Arg) c.2606T>G (p.Leu869Arg) c.2456T>G (p.Leu819Arg) | |
| 5 | g.128357341A>G | CA360767419 | FBN2 | c.2609T>C (p.Leu870Pro) c.2510T>C (p.Leu837Pro) c.2606T>C (p.Leu869Pro) c.2456T>C (p.Leu819Pro) | |
| 5 | g.128357341A>T | CA360767420 | FBN2 | c.2609T>A (p.Leu870His) c.2510T>A (p.Leu837His) c.2606T>A (p.Leu869His) c.2456T>A (p.Leu819His) | |
| 5 | g.128357342G>A | CA360767421 | FBN2 | c.2608C>T (p.Leu870Phe) c.2509C>T (p.Leu837Phe) c.2605C>T (p.Leu869Phe) c.2455C>T (p.Leu819Phe) | |
| 5 | g.128357342G>C | CA360767422 | FBN2 | c.2608C>G (p.Leu870Val) c.2509C>G (p.Leu837Val) c.2605C>G (p.Leu869Val) c.2455C>G (p.Leu819Val) | |
| 5 | g.128357342G>T | CA360767423 | FBN2 | c.2608C>A (p.Leu870Ile) c.2509C>A (p.Leu837Ile) c.2605C>A (p.Leu869Ile) c.2455C>A (p.Leu819Ile) | |
| 5 | g.128357343G>A | CA446312339 | FBN2 | c.2607C>T (p.Asn869=) c.2508C>T (p.Asn836=) c.2604C>T (p.Asn868=) c.2454C>T (p.Asn818=) | ClinVar dbSNP |
| 5 | g.128357343G>C | CA360767424 | FBN2 | c.2607C>G (p.Asn869Lys) c.2508C>G (p.Asn836Lys) c.2604C>G (p.Asn868Lys) c.2454C>G (p.Asn818Lys) | |
| 5 | g.128357343G= | CA1581282278 | FBN2 | c.2607C= (p.Asn869=) c.2508C= (p.Asn836=) c.2604C= (p.Asn868=) c.2454C= (p.Asn818=) | |
| 5 | g.128357343G>T | CA360767425 | FBN2 | c.2607C>A (p.Asn869Lys) c.2508C>A (p.Asn836Lys) c.2604C>A (p.Asn868Lys) c.2454C>A (p.Asn818Lys) | |
| 5 | g.128357344T>A | CA360767426 | FBN2 | c.2606A>T (p.Asn869Ile) c.2507A>T (p.Asn836Ile) c.2603A>T (p.Asn868Ile) c.2453A>T (p.Asn818Ile) | |
| 5 | g.128357344T>C | CA3395493 | FBN2 | c.2606A>G (p.Asn869Ser) c.2507A>G (p.Asn836Ser) c.2603A>G (p.Asn868Ser) c.2453A>G (p.Asn818Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128357344T>G | CA360767427 | FBN2 | c.2606A>C (p.Asn869Thr) c.2507A>C (p.Asn836Thr) c.2603A>C (p.Asn868Thr) c.2453A>C (p.Asn818Thr) | ClinVar gnomAD v4 |
| 5 | g.128357344T= | CA1581282279 | FBN2 | c.2606A= (p.Asn869=) c.2507A= (p.Asn836=) c.2603A= (p.Asn868=) c.2453A= (p.Asn818=) | |
| 5 | g.128357345T>A | CA360767428 | FBN2 | c.2605A>T (p.Asn869Tyr) c.2506A>T (p.Asn836Tyr) c.2602A>T (p.Asn868Tyr) c.2452A>T (p.Asn818Tyr) | |
| 5 | g.128357345T>C | CA360767430 | FBN2 | c.2605A>G (p.Asn869Asp) c.2506A>G (p.Asn836Asp) c.2602A>G (p.Asn868Asp) c.2452A>G (p.Asn818Asp) | |
| 5 | g.128357345T>G | CA360767429 | FBN2 | c.2605A>C (p.Asn869His) c.2506A>C (p.Asn836His) c.2602A>C (p.Asn868His) c.2452A>C (p.Asn818His) | |
| 5 | g.128357346G>A | CA446312340 | FBN2 | c.2604C>T (p.Asn868=) c.2505C>T (p.Asn835=) c.2601C>T (p.Asn867=) c.2451C>T (p.Asn817=) | |
| 5 | g.128357346G>C | CA360767431 | FBN2 | c.2604C>G (p.Asn868Lys) c.2505C>G (p.Asn835Lys) c.2601C>G (p.Asn867Lys) c.2451C>G (p.Asn817Lys) | |
| 5 | g.128357346G>T | CA360767432 | FBN2 | c.2604C>A (p.Asn868Lys) c.2505C>A (p.Asn835Lys) c.2601C>A (p.Asn867Lys) c.2451C>A (p.Asn817Lys) | |
| 5 | g.128357347T>A | CA360767433 | FBN2 | c.2603A>T (p.Asn868Ile) c.2504A>T (p.Asn835Ile) c.2600A>T (p.Asn867Ile) c.2450A>T (p.Asn817Ile) | |
| 5 | g.128357347T>C | CA360767434 | FBN2 | c.2603A>G (p.Asn868Ser) c.2504A>G (p.Asn835Ser) c.2600A>G (p.Asn867Ser) c.2450A>G (p.Asn817Ser) | |
| 5 | g.128357347T>G | CA360767435 | FBN2 | c.2603A>C (p.Asn868Thr) c.2504A>C (p.Asn835Thr) c.2600A>C (p.Asn867Thr) c.2450A>C (p.Asn817Thr) | |
| 5 | g.128357348T>A | CA360767436 | FBN2 | c.2602A>T (p.Asn868Tyr) c.2503A>T (p.Asn835Tyr) c.2599A>T (p.Asn867Tyr) c.2449A>T (p.Asn817Tyr) | |
| 5 | g.128357348T>C | CA360767437 | FBN2 | c.2602A>G (p.Asn868Asp) c.2503A>G (p.Asn835Asp) c.2599A>G (p.Asn867Asp) c.2449A>G (p.Asn817Asp) | ClinVar |
| 5 | g.128357348T>G | CA360767438 | FBN2 | c.2602A>C (p.Asn868His) c.2503A>C (p.Asn835His) c.2599A>C (p.Asn867His) c.2449A>C (p.Asn817His) | |
| 5 | g.128357349T>A | CA360767439 | FBN2 | c.2601A>T (p.Arg867Ser) c.2502A>T (p.Arg834Ser) c.2598A>T (p.Arg866Ser) c.2448A>T (p.Arg816Ser) | |
| 5 | g.128357349T>C | CA446312341 | FBN2 | c.2601A>G (p.Arg867=) c.2502A>G (p.Arg834=) c.2598A>G (p.Arg866=) c.2448A>G (p.Arg816=) | |
| 5 | g.128357349T>G | CA360767440 | FBN2 | c.2601A>C (p.Arg867Ser) c.2502A>C (p.Arg834Ser) c.2598A>C (p.Arg866Ser) c.2448A>C (p.Arg816Ser) | |
| 5 | g.128357350C>A | CA360767441 | FBN2 | c.2600G>T (p.Arg867Ile) c.2501G>T (p.Arg834Ile) c.2597G>T (p.Arg866Ile) c.2447G>T (p.Arg816Ile) | |
| 5 | g.128357350C>G | CA360767442 | FBN2 | c.2600G>C (p.Arg867Thr) c.2501G>C (p.Arg834Thr) c.2597G>C (p.Arg866Thr) c.2447G>C (p.Arg816Thr) | |
| 5 | g.128357350C>T | CA360767443 | FBN2 | c.2600G>A (p.Arg867Lys) c.2501G>A (p.Arg834Lys) c.2597G>A (p.Arg866Lys) c.2447G>A (p.Arg816Lys) | |
| 5 | g.128357351T>A | CA360767444 | FBN2 | c.2599A>T (p.Arg867Ter) c.2500A>T (p.Arg834Ter) c.2596A>T (p.Arg866Ter) c.2446A>T (p.Arg816Ter) | |
| 5 | g.128357351T>C | CA360767445 | FBN2 | c.2599A>G (p.Arg867Gly) c.2500A>G (p.Arg834Gly) c.2596A>G (p.Arg866Gly) c.2446A>G (p.Arg816Gly) | |
| 5 | g.128357351T>G | CA446312342 | FBN2 | c.2599A>C (p.Arg867=) c.2500A>C (p.Arg834=) c.2596A>C (p.Arg866=) c.2446A>C (p.Arg816=) | |
| 5 | g.128357352G>A | CA446312343 | FBN2 | c.2598C>T (p.Cys866=) c.2499C>T (p.Cys833=) c.2595C>T (p.Cys865=) c.2445C>T (p.Cys815=) | |
| 5 | g.128357352G>C | CA360767447 | FBN2 | c.2598C>G (p.Cys866Trp) c.2499C>G (p.Cys833Trp) c.2595C>G (p.Cys865Trp) c.2445C>G (p.Cys815Trp) | |
| 5 | g.128357352G>T | CA360767446 | FBN2 | c.2598C>A (p.Cys866Ter) c.2499C>A (p.Cys833Ter) c.2595C>A (p.Cys865Ter) c.2445C>A (p.Cys815Ter) | |
| 5 | g.128357353C>A | CA360767448 | FBN2 | c.2597G>T (p.Cys866Phe) c.2498G>T (p.Cys833Phe) c.2594G>T (p.Cys865Phe) c.2444G>T (p.Cys815Phe) | |
| 5 | g.128357353C>G | CA360767449 | FBN2 | c.2597G>C (p.Cys866Ser) c.2498G>C (p.Cys833Ser) c.2594G>C (p.Cys865Ser) c.2444G>C (p.Cys815Ser) | |
| 5 | g.128357353C>T | CA360767450 | FBN2 | c.2597G>A (p.Cys866Tyr) c.2498G>A (p.Cys833Tyr) c.2594G>A (p.Cys865Tyr) c.2444G>A (p.Cys815Tyr) | |
| 5 | g.128357354A>C | CA360767451 | FBN2 | c.2596T>G (p.Cys866Gly) c.2497T>G (p.Cys833Gly) c.2593T>G (p.Cys865Gly) c.2443T>G (p.Cys815Gly) | |
| 5 | g.128357354A>G | CA360767452 | FBN2 | c.2596T>C (p.Cys866Arg) c.2497T>C (p.Cys833Arg) c.2593T>C (p.Cys865Arg) c.2443T>C (p.Cys815Arg) | |
| 5 | g.128357354A>T | CA360767453 | FBN2 | c.2596T>A (p.Cys866Ser) c.2497T>A (p.Cys833Ser) c.2593T>A (p.Cys865Ser) c.2443T>A (p.Cys815Ser) | |
| 5 | g.128357355G>A | CA446312344 | FBN2 | c.2595C>T (p.Ala865=) c.2496C>T (p.Ala832=) c.2592C>T (p.Ala864=) c.2442C>T (p.Ala814=) | |
| 5 | g.128357355G>C | CA446312345 | FBN2 | c.2595C>G (p.Ala865=) c.2496C>G (p.Ala832=) c.2592C>G (p.Ala864=) c.2442C>G (p.Ala814=) | |
| 5 | g.128357355G>T | CA446312346 | FBN2 | c.2595C>A (p.Ala865=) c.2496C>A (p.Ala832=) c.2592C>A (p.Ala864=) c.2442C>A (p.Ala814=) | |
| 5 | g.128357356G>A | CA360767454 | FBN2 | c.2594C>T (p.Ala865Val) c.2495C>T (p.Ala832Val) c.2591C>T (p.Ala864Val) c.2441C>T (p.Ala814Val) | |
| 5 | g.128357356G>C | CA360767455 | FBN2 | c.2594C>G (p.Ala865Gly) c.2495C>G (p.Ala832Gly) c.2591C>G (p.Ala864Gly) c.2441C>G (p.Ala814Gly) | |
| 5 | g.128357356G>T | CA360767456 | FBN2 | c.2594C>A (p.Ala865Asp) c.2495C>A (p.Ala832Asp) c.2591C>A (p.Ala864Asp) c.2441C>A (p.Ala814Asp) | |
| 5 | g.128357357C>A | CA360767457 | FBN2 | c.2593G>T (p.Ala865Ser) c.2494G>T (p.Ala832Ser) c.2590G>T (p.Ala864Ser) c.2440G>T (p.Ala814Ser) | |
| 5 | g.128357357C>G | CA360767458 | FBN2 | c.2593G>C (p.Ala865Pro) c.2494G>C (p.Ala832Pro) c.2590G>C (p.Ala864Pro) c.2440G>C (p.Ala814Pro) | |
| 5 | g.128357357C>T | CA360767459 | FBN2 | c.2593G>A (p.Ala865Thr) c.2494G>A (p.Ala832Thr) c.2590G>A (p.Ala864Thr) c.2440G>A (p.Ala814Thr) | |
| 5 | g.128357358C>A | CA446312349 | FBN2 | c.2592G>T (p.Gly864=) c.2493G>T (p.Gly831=) c.2589G>T (p.Gly863=) c.2439G>T (p.Gly813=) | |
| 5 | g.128357358C>G | CA446312348 | FBN2 | c.2592G>C (p.Gly864=) c.2493G>C (p.Gly831=) c.2589G>C (p.Gly863=) c.2439G>C (p.Gly813=) | |
| 5 | g.128357358C>T | CA446312347 | FBN2 | c.2592G>A (p.Gly864=) c.2493G>A (p.Gly831=) c.2589G>A (p.Gly863=) c.2439G>A (p.Gly813=) | ClinVar gnomAD v4 |
| 5 | g.128357359C>A | CA360767462 | FBN2 | c.2591G>T (p.Gly864Val) c.2492G>T (p.Gly831Val) c.2588G>T (p.Gly863Val) c.2438G>T (p.Gly813Val) | |
| 5 | g.128357359C>G | CA360767461 | FBN2 | c.2591G>C (p.Gly864Ala) c.2492G>C (p.Gly831Ala) c.2588G>C (p.Gly863Ala) c.2438G>C (p.Gly813Ala) | |
| 5 | g.128357359C>T | CA360767460 | FBN2 | c.2591G>A (p.Gly864Glu) c.2492G>A (p.Gly831Glu) c.2588G>A (p.Gly863Glu) c.2438G>A (p.Gly813Glu) | |
| 5 | g.128357360C>A | CA360767463 | FBN2 | c.2590G>T (p.Gly864Trp) c.2491G>T (p.Gly831Trp) c.2587G>T (p.Gly863Trp) c.2437G>T (p.Gly813Trp) | |
| 5 | g.128357360C>G | CA360767464 | FBN2 | c.2590G>C (p.Gly864Arg) c.2491G>C (p.Gly831Arg) c.2587G>C (p.Gly863Arg) c.2437G>C (p.Gly813Arg) | |
| 5 | g.128357360C>T | CA360767465 | FBN2 | c.2590G>A (p.Gly864Arg) c.2491G>A (p.Gly831Arg) c.2587G>A (p.Gly863Arg) c.2437G>A (p.Gly813Arg) | |
| 5 | g.128357361A>C | CA360767466 | FBN2 | c.2589T>G (p.Asn863Lys) c.2490T>G (p.Asn830Lys) c.2586T>G (p.Asn862Lys) c.2436T>G (p.Asn812Lys) | |
| 5 | g.128357361A>G | CA446312350 | FBN2 | c.2589T>C (p.Asn863=) c.2490T>C (p.Asn830=) c.2586T>C (p.Asn862=) c.2436T>C (p.Asn812=) | |
| 5 | g.128357361A>T | CA360767467 | FBN2 | c.2589T>A (p.Asn863Lys) c.2490T>A (p.Asn830Lys) c.2586T>A (p.Asn862Lys) c.2436T>A (p.Asn812Lys) | |
| 5 | g.128357361dup | CA2675118759 | FBN2 | c.2589dup (p.Gly864TrpfsTer13) c.2490dup (p.Gly831TrpfsTer13) c.2586dup (p.Gly863TrpfsTer13) c.2436dup (p.Gly813TrpfsTer13) | gnomAD v4 |
| 5 | g.128357362T>A | CA360767469 | FBN2 | c.2588A>T (p.Asn863Ile) c.2489A>T (p.Asn830Ile) c.2585A>T (p.Asn862Ile) c.2435A>T (p.Asn812Ile) | |
| 5 | g.128357362T>C | CA3395494 | FBN2 | c.2588A>G (p.Asn863Ser) c.2489A>G (p.Asn830Ser) c.2585A>G (p.Asn862Ser) c.2435A>G (p.Asn812Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128357362T>G | CA360767468 | FBN2 | c.2588A>C (p.Asn863Thr) c.2489A>C (p.Asn830Thr) c.2585A>C (p.Asn862Thr) c.2435A>C (p.Asn812Thr) | |
| 5 | g.128357362T= | CA1581282280 | FBN2 | c.2588A= (p.Asn863=) c.2489A= (p.Asn830=) c.2585A= (p.Asn862=) c.2435A= (p.Asn812=) | |
| 5 | g.128357363T>A | CA360767470 | FBN2 | c.2587A>T (p.Asn863Tyr) c.2488A>T (p.Asn830Tyr) c.2584A>T (p.Asn862Tyr) c.2434A>T (p.Asn812Tyr) | |
| 5 | g.128357363T>C | CA360767471 | FBN2 | c.2587A>G (p.Asn863Asp) c.2488A>G (p.Asn830Asp) c.2584A>G (p.Asn862Asp) c.2434A>G (p.Asn812Asp) | |
| 5 | g.128357363T>G | CA360767472 | FBN2 | c.2587A>C (p.Asn863His) c.2488A>C (p.Asn830His) c.2584A>C (p.Asn862His) c.2434A>C (p.Asn812His) | |
| 5 | g.128357364G>A | CA446312351 | FBN2 | c.2586C>T (p.Val862=) c.2487C>T (p.Val829=) c.2583C>T (p.Val861=) c.2433C>T (p.Val811=) | |
| 5 | g.128357364G>C | CA446312353 | FBN2 | c.2586C>G (p.Val862=) c.2487C>G (p.Val829=) c.2583C>G (p.Val861=) c.2433C>G (p.Val811=) | |
| 5 | g.128357364G>T | CA446312352 | FBN2 | c.2586C>A (p.Val862=) c.2487C>A (p.Val829=) c.2583C>A (p.Val861=) c.2433C>A (p.Val811=) | |
| 5 | g.128357365A>C | CA360767473 | FBN2 | c.2585T>G (p.Val862Gly) c.2486T>G (p.Val829Gly) c.2582T>G (p.Val861Gly) c.2432T>G (p.Val811Gly) | |
| 5 | g.128357365A>G | CA360767474 | FBN2 | c.2585T>C (p.Val862Ala) c.2486T>C (p.Val829Ala) c.2582T>C (p.Val861Ala) c.2432T>C (p.Val811Ala) | |
| 5 | g.128357365A>T | CA360767475 | FBN2 | c.2585T>A (p.Val862Asp) c.2486T>A (p.Val829Asp) c.2582T>A (p.Val861Asp) c.2432T>A (p.Val811Asp) | |
| 5 | g.128357366C>A | CA360767476 | FBN2 | c.2584G>T (p.Val862Phe) c.2485G>T (p.Val829Phe) c.2581G>T (p.Val861Phe) c.2431G>T (p.Val811Phe) | COSMIC COSMIC |
| 5 | g.128357366C>G | CA360767478 | FBN2 | c.2584G>C (p.Val862Leu) c.2485G>C (p.Val829Leu) c.2581G>C (p.Val861Leu) c.2431G>C (p.Val811Leu) | |
| 5 | g.128357366C>T | CA360767477 | FBN2 | c.2584G>A (p.Val862Ile) c.2485G>A (p.Val829Ile) c.2581G>A (p.Val861Ile) c.2431G>A (p.Val811Ile) | gnomAD v4 |
| 5 | g.128357367A>C | CA360767479 | FBN2 | c.2583T>G (p.Cys861Trp) c.2484T>G (p.Cys828Trp) c.2580T>G (p.Cys860Trp) c.2430T>G (p.Cys810Trp) | |
| 5 | g.128357367A>G | CA446312355 | FBN2 | c.2583T>C (p.Cys861=) c.2484T>C (p.Cys828=) c.2580T>C (p.Cys860=) c.2430T>C (p.Cys810=) | |
| 5 | g.128357367A>T | CA360767480 | FBN2 | c.2583T>A (p.Cys861Ter) c.2484T>A (p.Cys828Ter) c.2580T>A (p.Cys860Ter) c.2430T>A (p.Cys810Ter) | |
| 5 | g.128357368C>A | CA360767481 | FBN2 | c.2582G>T (p.Cys861Phe) c.2483G>T (p.Cys828Phe) c.2579G>T (p.Cys860Phe) c.2429G>T (p.Cys810Phe) | |
| 5 | g.128357368C>G | CA360767482 | FBN2 | c.2582G>C (p.Cys861Ser) c.2483G>C (p.Cys828Ser) c.2579G>C (p.Cys860Ser) c.2429G>C (p.Cys810Ser) | |
| 5 | g.128357368C>T | CA360767483 | FBN2 | c.2582G>A (p.Cys861Tyr) c.2483G>A (p.Cys828Tyr) c.2579G>A (p.Cys860Tyr) c.2429G>A (p.Cys810Tyr) | |
| 5 | g.128357369A>C | CA360767484 | FBN2 | c.2581T>G (p.Cys861Gly) c.2482T>G (p.Cys828Gly) c.2578T>G (p.Cys860Gly) c.2428T>G (p.Cys810Gly) | |
| 5 | g.128357369A>G | CA360767485 | FBN2 | c.2581T>C (p.Cys861Arg) c.2482T>C (p.Cys828Arg) c.2578T>C (p.Cys860Arg) c.2428T>C (p.Cys810Arg) | |
| 5 | g.128357369A>T | CA360767486 | FBN2 | c.2581T>A (p.Cys861Ser) c.2482T>A (p.Cys828Ser) c.2578T>A (p.Cys860Ser) c.2428T>A (p.Cys810Ser) | |
| 5 | g.128357370T>A | CA446312356 | FBN2 | c.2580A>T (p.Pro860=) c.2481A>T (p.Pro827=) c.2577A>T (p.Pro859=) c.2427A>T (p.Pro809=) | |
| 5 | g.128357370T>C | CA446312357 | FBN2 | c.2580A>G (p.Pro860=) c.2481A>G (p.Pro827=) c.2577A>G (p.Pro859=) c.2427A>G (p.Pro809=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.128357370T>G | CA446312358 | FBN2 | c.2580A>C (p.Pro860=) c.2481A>C (p.Pro827=) c.2577A>C (p.Pro859=) c.2427A>C (p.Pro809=) | |
| 5 | g.128357370T= | CA1581282281 | FBN2 | c.2580A= (p.Pro860=) c.2481A= (p.Pro827=) c.2577A= (p.Pro859=) c.2427A= (p.Pro809=) | |
| 5 | g.128357371G>A | CA360767487 | FBN2 | c.2579C>T (p.Pro860Leu) c.2480C>T (p.Pro827Leu) c.2576C>T (p.Pro859Leu) c.2426C>T (p.Pro809Leu) | dbSNP gnomAD v4 |
| 5 | g.128357371G>C | CA360767488 | FBN2 | c.2579C>G (p.Pro860Arg) c.2480C>G (p.Pro827Arg) c.2576C>G (p.Pro859Arg) c.2426C>G (p.Pro809Arg) | |
| 5 | g.128357371G= | CA1581282282 | FBN2 | c.2579C= (p.Pro860=) c.2480C= (p.Pro827=) c.2576C= (p.Pro859=) c.2426C= (p.Pro809=) | |
| 5 | g.128357371G>T | CA360767489 | FBN2 | c.2579C>A (p.Pro860Gln) c.2480C>A (p.Pro827Gln) c.2576C>A (p.Pro859Gln) c.2426C>A (p.Pro809Gln) | |
| 5 | g.128357372G>A | CA360767490 | FBN2 | c.2578C>T (p.Pro860Ser) c.2479C>T (p.Pro827Ser) c.2575C>T (p.Pro859Ser) c.2425C>T (p.Pro809Ser) | |
| 5 | g.128357372G>C | CA360767492 | FBN2 | c.2578C>G (p.Pro860Ala) c.2479C>G (p.Pro827Ala) c.2575C>G (p.Pro859Ala) c.2425C>G (p.Pro809Ala) | |
| 5 | g.128357372G>T | CA360767491 | FBN2 | c.2578C>A (p.Pro860Thr) c.2479C>A (p.Pro827Thr) c.2575C>A (p.Pro859Thr) c.2425C>A (p.Pro809Thr) | |
| 5 | g.128357372_128357373insCAGTTCTAACAGAATCTTTTCCTTCTGGATTGTAGATATAAAT | CA2768336270 | FBN2 | c.2577_2578insATTTATATCTACAATCCAGAAGGAAAAGATTCTGTTAGAACTG (p.Pro860IlefsTer31) c.2478_2479insATTTATATCTACAATCCAGAAGGAAAAGATTCTGTTAGAACTG (p.Pro827IlefsTer31) c.2574_2575insATTTATATCTACAATCCAGAAGGAAAAGATTCTGTTAGAACTG (p.Pro859IlefsTer31) c.2424_2425insATTTATATCTACAATCCAGAAGGAAAAGATTCTGTTAGAACTG (p.Pro809IlefsTer31) | |
| 5 | g.128357373G>A | CA446312359 | FBN2 | c.2577C>T (p.Asn859=) c.2478C>T (p.Asn826=) c.2574C>T (p.Asn858=) c.2424C>T (p.Asn808=) | COSMIC COSMIC |
| 5 | g.128357373G>C | CA360767493 | FBN2 | c.2577C>G (p.Asn859Lys) c.2478C>G (p.Asn826Lys) c.2574C>G (p.Asn858Lys) c.2424C>G (p.Asn808Lys) | |
| 5 | g.128357373G>T | CA360767494 | FBN2 | c.2577C>A (p.Asn859Lys) c.2478C>A (p.Asn826Lys) c.2574C>A (p.Asn858Lys) c.2424C>A (p.Asn808Lys) | |
| 5 | g.128357374T>A | CA360767495 | FBN2 | c.2576A>T (p.Asn859Ile) c.2477A>T (p.Asn826Ile) c.2573A>T (p.Asn858Ile) c.2423A>T (p.Asn808Ile) | |
| 5 | g.128357374T>C | CA360767497 | FBN2 | c.2576A>G (p.Asn859Ser) c.2477A>G (p.Asn826Ser) c.2573A>G (p.Asn858Ser) c.2423A>G (p.Asn808Ser) | gnomAD v4 |
| 5 | g.128357374T>G | CA360767496 | FBN2 | c.2576A>C (p.Asn859Thr) c.2477A>C (p.Asn826Thr) c.2573A>C (p.Asn858Thr) c.2423A>C (p.Asn808Thr) |