| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.58109624_58109627dup | CA2666263469 | FLNB | n.2391_2394dup c.2248_2251dup (p.Gly751AlafsTer12) c.*780_*783dup (n.*780_*783dup) c.1741_1744dup (p.Gly582AlafsTer12) n.2393_2396dup | gnomAD v4 |
| 3 | g.58109627G>A | CA353343390 | FLNB | n.2394G>A c.2251G>A (p.Gly751Ser) c.*783G>A (n.*783G>A) c.1744G>A (p.Gly582Ser) n.2396G>A | dbSNP gnomAD v4 |
| 3 | g.58109627G>C | CA253858 | FLNB | n.2394G>C c.2251G>C (p.Gly751Arg) c.*783G>C (n.*783G>C) c.1744G>C (p.Gly582Arg) n.2396G>C | ClinVar dbSNP |
| 3 | g.58109627G= | CA1367500642 | FLNB | n.2394G= c.2251G= (p.Gly751=) c.*783G= (n.*783G=) c.1744G= (p.Gly582=) n.2396G= | |
| 3 | g.58109627G>T | CA353343394 | FLNB | n.2394G>T c.2251G>T (p.Gly751Cys) c.*783G>T (n.*783G>T) c.1744G>T (p.Gly582Cys) n.2396G>T | |
| 3 | g.58109628G>A | CA353343397 | FLNB | n.2395G>A c.2252G>A (p.Gly751Asp) c.*784G>A (n.*784G>A) c.1745G>A (p.Gly582Asp) n.2397G>A | |
| 3 | g.58109628G>C | CA353343399 | FLNB | n.2395G>C c.2252G>C (p.Gly751Ala) c.*784G>C (n.*784G>C) c.1745G>C (p.Gly582Ala) n.2397G>C | |
| 3 | g.58109628G>T | CA353343402 | FLNB | n.2395G>T c.2252G>T (p.Gly751Val) c.*784G>T (n.*784G>T) c.1745G>T (p.Gly582Val) n.2397G>T | |
| 3 | g.58109629T>A | CA434033679 | FLNB | n.2396T>A c.2253T>A (p.Gly751=) c.*785T>A (n.*785T>A) c.1746T>A (p.Gly582=) n.2398T>A | |
| 3 | g.58109629T>C | CA434033677 | FLNB | n.2396T>C c.2253T>C (p.Gly751=) c.*785T>C (n.*785T>C) c.1746T>C (p.Gly582=) n.2398T>C | |
| 3 | g.58109629T>G | CA434033675 | FLNB | n.2396T>G c.2253T>G (p.Gly751=) c.*785T>G (n.*785T>G) c.1746T>G (p.Gly582=) n.2398T>G | |
| 3 | g.58109630G>A | CA353343409 | FLNB | n.2397G>A c.2254G>A (p.Val752Met) c.*786G>A (n.*786G>A) c.1747G>A (p.Val583Met) n.2399G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.58109630G>C | CA353343407 | FLNB | n.2397G>C c.2254G>C (p.Val752Leu) c.*786G>C (n.*786G>C) c.1747G>C (p.Val583Leu) n.2399G>C | |
| 3 | g.58109630G= | CA1367500643 | FLNB | n.2397G= c.2254G= (p.Val752=) c.*786G= (n.*786G=) c.1747G= (p.Val583=) n.2399G= | |
| 3 | g.58109630G>T | CA353343405 | FLNB | n.2397G>T c.2254G>T (p.Val752Leu) c.*786G>T (n.*786G>T) c.1747G>T (p.Val583Leu) n.2399G>T | |
| 3 | g.58109631T>A | CA353343413 | FLNB | n.2398T>A c.2255T>A (p.Val752Glu) c.*787T>A (n.*787T>A) c.1748T>A (p.Val583Glu) n.2400T>A | |
| 3 | g.58109631T>C | CA75434967 | FLNB | n.2398T>C c.2255T>C (p.Val752Ala) c.*787T>C (n.*787T>C) c.1748T>C (p.Val583Ala) n.2400T>C | dbSNP |
| 3 | g.58109631T>G | CA353343416 | FLNB | n.2398T>G c.2255T>G (p.Val752Gly) c.*787T>G (n.*787T>G) c.1748T>G (p.Val583Gly) n.2400T>G | |
| 3 | g.58109631T= | CA1367500644 | FLNB | n.2398T= c.2255T= (p.Val752=) c.*787T= (n.*787T=) c.1748T= (p.Val583=) n.2400T= | |
| 3 | g.58109632G>A | CA434033694 | FLNB | n.2399G>A c.2256G>A (p.Val752=) c.*788G>A (n.*788G>A) c.1749G>A (p.Val583=) n.2401G>A | |
| 3 | g.58109632G>C | CA434033692 | FLNB | n.2399G>C c.2256G>C (p.Val752=) c.*788G>C (n.*788G>C) c.1749G>C (p.Val583=) n.2401G>C | |
| 3 | g.58109632G>T | CA434033690 | FLNB | n.2399G>T c.2256G>T (p.Val752=) c.*788G>T (n.*788G>T) c.1749G>T (p.Val583=) n.2401G>T | |
| 3 | g.58109633G>A | CA353343418 | FLNB | n.2400G>A c.2257G>A (p.Glu753Lys) c.*789G>A (n.*789G>A) c.1750G>A (p.Glu584Lys) n.2402G>A | |
| 3 | g.58109633G>C | CA353343420 | FLNB | n.2400G>C c.2257G>C (p.Glu753Gln) c.*789G>C (n.*789G>C) c.1750G>C (p.Glu584Gln) n.2402G>C | |
| 3 | g.58109633G>T | CA353343422 | FLNB | n.2400G>T c.2257G>T (p.Glu753Ter) c.*789G>T (n.*789G>T) c.1750G>T (p.Glu584Ter) n.2402G>T | |
| 3 | g.58109634A= | CA1367500645 | FLNB | n.2401A= c.2258A= (p.Glu753=) c.*790A= (n.*790A=) c.1751A= (p.Glu584=) n.2403A= | |
| 3 | g.58109634A>C | CA353343425 | FLNB | n.2401A>C c.2258A>C (p.Glu753Ala) c.*790A>C (n.*790A>C) c.1751A>C (p.Glu584Ala) n.2403A>C | |
| 3 | g.58109634A>G | CA353343427 | FLNB | n.2401A>G c.2258A>G (p.Glu753Gly) c.*790A>G (n.*790A>G) c.1751A>G (p.Glu584Gly) n.2403A>G | dbSNP gnomAD v4 |
| 3 | g.58109634A>T | CA353343430 | FLNB | n.2401A>T c.2258A>T (p.Glu753Val) c.*790A>T (n.*790A>T) c.1751A>T (p.Glu584Val) n.2403A>T | |
| 3 | g.58109635G>A | CA434033707 | FLNB | n.2402G>A c.2259G>A (p.Glu753=) c.*791G>A (n.*791G>A) c.1752G>A (p.Glu584=) n.2404G>A | |
| 3 | g.58109635G>C | CA353343433 | FLNB | n.2402G>C c.2259G>C (p.Glu753Asp) c.*791G>C (n.*791G>C) c.1752G>C (p.Glu584Asp) n.2404G>C | |
| 3 | g.58109635G>T | CA353343435 | FLNB | n.2402G>T c.2259G>T (p.Glu753Asp) c.*791G>T (n.*791G>T) c.1752G>T (p.Glu584Asp) n.2404G>T | |
| 3 | g.58109636A= | CA1367500646 | FLNB | n.2403A= c.2260A= (p.Arg754=) c.*792A= (n.*792A=) c.1753A= (p.Arg585=) n.2405A= | |
| 3 | g.58109636A>C | CA434033712 | FLNB | n.2403A>C c.2260A>C (p.Arg754=) c.*792A>C (n.*792A>C) c.1753A>C (p.Arg585=) n.2405A>C | |
| 3 | g.58109636A>G | CA2468063 | FLNB | n.2403A>G c.2260A>G (p.Arg754Gly) c.*792A>G (n.*792A>G) c.1753A>G (p.Arg585Gly) n.2405A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.58109636A>T | CA353343439 | FLNB | n.2403A>T c.2260A>T (p.Arg754Ter) c.*792A>T (n.*792A>T) c.1753A>T (p.Arg585Ter) n.2405A>T | |
| 3 | g.58109637G>A | CA353343442 | FLNB | n.2404G>A c.2261G>A (p.Arg754Lys) c.*793G>A (n.*793G>A) c.1754G>A (p.Arg585Lys) n.2406G>A | |
| 3 | g.58109637G>C | CA353343444 | FLNB | n.2404G>C c.2261G>C (p.Arg754Thr) c.*793G>C (n.*793G>C) c.1754G>C (p.Arg585Thr) n.2406G>C | |
| 3 | g.58109637G>T | CA353343446 | FLNB | n.2404G>T c.2261G>T (p.Arg754Ile) c.*793G>T (n.*793G>T) c.1754G>T (p.Arg585Ile) n.2406G>T | |
| 3 | g.58109638A>C | CA353343449 | FLNB | n.2405A>C c.2262A>C (p.Arg754Ser) c.*794A>C (n.*794A>C) c.1755A>C (p.Arg585Ser) n.2407A>C | |
| 3 | g.58109638A>G | CA434033726 | FLNB | n.2405A>G c.2262A>G (p.Arg754=) c.*794A>G (n.*794A>G) c.1755A>G (p.Arg585=) n.2407A>G | |
| 3 | g.58109638A>T | CA353343451 | FLNB | n.2405A>T c.2262A>T (p.Arg754Ser) c.*794A>T (n.*794A>T) c.1755A>T (p.Arg585Ser) n.2407A>T | |
| 3 | g.58109639A>C | CA353343458 | FLNB | n.2406A>C c.2263A>C (p.Ser755Arg) c.*795A>C (n.*795A>C) c.1756A>C (p.Ser586Arg) n.2408A>C | |
| 3 | g.58109639A>G | CA353343460 | FLNB | n.2406A>G c.2263A>G (p.Ser755Gly) c.*795A>G (n.*795A>G) c.1756A>G (p.Ser586Gly) n.2408A>G | |
| 3 | g.58109639A>T | CA353343462 | FLNB | n.2406A>T c.2263A>T (p.Ser755Cys) c.*795A>T (n.*795A>T) c.1756A>T (p.Ser586Cys) n.2408A>T | |
| 3 | g.58109640G>A | CA353343465 | FLNB | n.2407G>A c.2264G>A (p.Ser755Asn) c.*796G>A (n.*796G>A) c.1757G>A (p.Ser586Asn) n.2409G>A | |
| 3 | g.58109640G>C | CA353343467 | FLNB | n.2407G>C c.2264G>C (p.Ser755Thr) c.*796G>C (n.*796G>C) c.1757G>C (p.Ser586Thr) n.2409G>C | |
| 3 | g.58109640G>T | CA353343469 | FLNB | n.2407G>T c.2264G>T (p.Ser755Ile) c.*796G>T (n.*796G>T) c.1757G>T (p.Ser586Ile) n.2409G>T | |
| 3 | g.58109641T>A | CA353343472 | FLNB | n.2408T>A c.2265T>A (p.Ser755Arg) c.*797T>A (n.*797T>A) c.1758T>A (p.Ser586Arg) n.2410T>A | |
| 3 | g.58109641T>C | CA434033741 | FLNB | n.2408T>C c.2265T>C (p.Ser755=) c.*797T>C (n.*797T>C) c.1758T>C (p.Ser586=) n.2410T>C |