| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154371001T>A | CA256055 | FLNA | c.245A>T (p.Glu82Val) c.164A>T (p.Glu55Val) c.203A>T (p.Glu68Val) | ClinVar dbSNP |
| X | g.154371001T>C | CA415254800 | FLNA | c.245A>G (p.Glu82Gly) c.164A>G (p.Glu55Gly) c.203A>G (p.Glu68Gly) | COSMIC COSMIC |
| X | g.154371001T>G | CA415254802 | FLNA | c.245A>C (p.Glu82Ala) c.164A>C (p.Glu55Ala) c.203A>C (p.Glu68Ala) | |
| X | g.154371001T= | CA2466660373 | FLNA | c.245A= (p.Glu82=) c.164A= (p.Glu55=) c.203A= (p.Glu68=) | |
| X | g.154371002C>A | CA415254805 | FLNA | c.244G>T (p.Glu82Ter) c.163G>T (p.Glu55Ter) c.202G>T (p.Glu68Ter) | |
| X | g.154371002C>G | CA415254806 | FLNA | c.244G>C (p.Glu82Gln) c.163G>C (p.Glu55Gln) c.202G>C (p.Glu68Gln) | |
| X | g.154371002C>T | CA415254808 | FLNA | c.244G>A (p.Glu82Lys) c.163G>A (p.Glu55Lys) c.202G>A (p.Glu68Lys) | |
| X | g.154371003C>A | CA415254811 | FLNA | c.243G>T (p.Leu81Phe) c.162G>T (p.Leu54Phe) c.201G>T (p.Leu67Phe) | |
| X | g.154371003C>G | CA415254813 | FLNA | c.243G>C (p.Leu81Phe) c.162G>C (p.Leu54Phe) c.201G>C (p.Leu67Phe) | |
| X | g.154371003C>T | CA519277393 | FLNA | c.243G>A (p.Leu81=) c.162G>A (p.Leu54=) c.201G>A (p.Leu67=) | |
| X | g.154371004A>C | CA415254820 | FLNA | c.242T>G (p.Leu81Trp) c.161T>G (p.Leu54Trp) c.200T>G (p.Leu67Trp) | |
| X | g.154371004A>G | CA415254819 | FLNA | c.242T>C (p.Leu81Ser) c.161T>C (p.Leu54Ser) c.200T>C (p.Leu67Ser) | |
| X | g.154371004A>T | CA415254816 | FLNA | c.242T>A (p.Leu81Ter) c.161T>A (p.Leu54Ter) c.200T>A (p.Leu67Ter) | |
| X | g.154371005A>C | CA415254825 | FLNA | c.241T>G (p.Leu81Val) c.160T>G (p.Leu54Val) c.199T>G (p.Leu67Val) | |
| X | g.154371005A>G | CA519277396 | FLNA | c.241T>C (p.Leu81=) c.160T>C (p.Leu54=) c.199T>C (p.Leu67=) | ClinVar dbSNP gnomAD v4 |
| X | g.154371005A>T | CA415254824 | FLNA | c.241T>A (p.Leu81Met) c.160T>A (p.Leu54Met) c.199T>A (p.Leu67Met) | |
| X | g.154371006C>A | CA519277397 | FLNA | c.240G>T (p.Leu80=) c.159G>T (p.Leu53=) c.198G>T (p.Leu66=) | |
| X | g.154371006C= | CA2466660374 | FLNA | c.240G= (p.Leu80=) c.159G= (p.Leu53=) c.198G= (p.Leu66=) | |
| X | g.154371006C>G | CA337285479 | FLNA | c.240G>C (p.Leu80=) c.159G>C (p.Leu53=) c.198G>C (p.Leu66=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154371006C>T | CA519277398 | FLNA | c.240G>A (p.Leu80=) c.159G>A (p.Leu53=) c.198G>A (p.Leu66=) | |
| X | g.154371007A>C | CA415254831 | FLNA | c.239T>G (p.Leu80Arg) c.158T>G (p.Leu53Arg) c.197T>G (p.Leu66Arg) | |
| X | g.154371007A>G | CA415254833 | FLNA | c.239T>C (p.Leu80Pro) c.158T>C (p.Leu53Pro) c.197T>C (p.Leu66Pro) | |
| X | g.154371007A>T | CA415254835 | FLNA | c.239T>A (p.Leu80Gln) c.158T>A (p.Leu53Gln) c.197T>A (p.Leu66Gln) | |
| X | g.154371008G>A | CA519277400 | FLNA | c.238C>T (p.Leu80=) c.157C>T (p.Leu53=) c.196C>T (p.Leu66=) | gnomAD v4 |
| X | g.154371008G>C | CA415254838 | FLNA | c.238C>G (p.Leu80Val) c.157C>G (p.Leu53Val) c.196C>G (p.Leu66Val) | ClinVar dbSNP |
| X | g.154371008G>T | CA415254840 | FLNA | c.238C>A (p.Leu80Met) c.157C>A (p.Leu53Met) c.196C>A (p.Leu66Met) | |
| X | g.154371009C>A | CA519277401 | FLNA | c.237G>T (p.Ala79=) c.156G>T (p.Ala52=) c.195G>T (p.Ala65=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.154371009C= | CA2466660375 | FLNA | c.237G= (p.Ala79=) c.156G= (p.Ala52=) c.195G= (p.Ala65=) | |
| X | g.154371009C>G | CA221699 | FLNA | c.237G>C (p.Ala79=) c.156G>C (p.Ala52=) c.195G>C (p.Ala65=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154371009C>T | CA519277402 | FLNA | c.237G>A (p.Ala79=) c.156G>A (p.Ala52=) c.195G>A (p.Ala65=) | gnomAD v4 |
| X | g.154371010G>A | CA415254842 | FLNA | c.236C>T (p.Ala79Val) c.155C>T (p.Ala52Val) c.194C>T (p.Ala65Val) | |
| X | g.154371010G>C | CA415254843 | FLNA | c.236C>G (p.Ala79Gly) c.155C>G (p.Ala52Gly) c.194C>G (p.Ala65Gly) | |
| X | g.154371010G>T | CA415254845 | FLNA | c.236C>A (p.Ala79Glu) c.155C>A (p.Ala52Glu) c.194C>A (p.Ala65Glu) | |
| X | g.154371011C>A | CA415254852 | FLNA | c.235G>T (p.Ala79Ser) c.154G>T (p.Ala52Ser) c.193G>T (p.Ala65Ser) | gnomAD v4 |
| X | g.154371011C>G | CA415254850 | FLNA | c.235G>C (p.Ala79Pro) c.154G>C (p.Ala52Pro) c.193G>C (p.Ala65Pro) | |
| X | g.154371011C>T | CA415254848 | FLNA | c.235G>A (p.Ala79Thr) c.154G>A (p.Ala52Thr) c.193G>A (p.Ala65Thr) | |
| X | g.154371012G>A | CA10561456 | FLNA | c.234C>T (p.Ile78=) c.153C>T (p.Ile51=) c.192C>T (p.Ile64=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154371012G>C | CA415254857 | FLNA | c.234C>G (p.Ile78Met) c.153C>G (p.Ile51Met) c.192C>G (p.Ile64Met) | |
| X | g.154371012G= | CA2466660376 | FLNA | c.234C= (p.Ile78=) c.153C= (p.Ile51=) c.192C= (p.Ile64=) | |
| X | g.154371012G>T | CA10561455 | FLNA | c.234C>A (p.Ile78=) c.153C>A (p.Ile51=) c.192C>A (p.Ile64=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154371013A>C | CA415254861 | FLNA | c.233T>G (p.Ile78Ser) c.152T>G (p.Ile51Ser) c.191T>G (p.Ile64Ser) | |
| X | g.154371013A>G | CA415254863 | FLNA | c.233T>C (p.Ile78Thr) c.152T>C (p.Ile51Thr) c.191T>C (p.Ile64Thr) | |
| X | g.154371013A>T | CA415254866 | FLNA | c.233T>A (p.Ile78Asn) c.152T>A (p.Ile51Asn) c.191T>A (p.Ile64Asn) | |
| X | g.154371014T>A | CA415254869 | FLNA | c.232A>T (p.Ile78Phe) c.151A>T (p.Ile51Phe) c.190A>T (p.Ile64Phe) | |
| X | g.154371014T>C | CA415254871 | FLNA | c.232A>G (p.Ile78Val) c.151A>G (p.Ile51Val) c.190A>G (p.Ile64Val) | |
| X | g.154371014T>G | CA415254873 | FLNA | c.232A>C (p.Ile78Leu) c.151A>C (p.Ile51Leu) c.190A>C (p.Ile64Leu) | |
| X | g.154371015A>C | CA519277408 | FLNA | c.231T>G (p.Leu77=) c.150T>G (p.Leu50=) c.189T>G (p.Leu63=) | |
| X | g.154371015A>G | CA519277409 | FLNA | c.231T>C (p.Leu77=) c.150T>C (p.Leu50=) c.189T>C (p.Leu63=) | ClinVar dbSNP |
| X | g.154371015A>T | CA519277410 | FLNA | c.231T>A (p.Leu77=) c.150T>A (p.Leu50=) c.189T>A (p.Leu63=) | |
| X | g.154371016A>C | CA415254876 | FLNA | c.230T>G (p.Leu77Arg) c.149T>G (p.Leu50Arg) c.188T>G (p.Leu63Arg) |