| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154370901G>A | CA519277307 | FLNA | c.345C>T (p.Asp115=) c.264C>T (p.Asp88=) c.303C>T (p.Asp101=) | ClinVar dbSNP gnomAD v4 |
| X | g.154370901G>C | CA415254257 | FLNA | c.345C>G (p.Asp115Glu) c.264C>G (p.Asp88Glu) c.303C>G (p.Asp101Glu) | |
| X | g.154370901G= | CA2466660354 | FLNA | c.345C= (p.Asp115=) c.264C= (p.Asp88=) c.303C= (p.Asp101=) | |
| X | g.154370901G>T | CA415254259 | FLNA | c.345C>A (p.Asp115Glu) c.264C>A (p.Asp88Glu) c.303C>A (p.Asp101Glu) | |
| X | g.154370902T>A | CA415254261 | FLNA | c.344A>T (p.Asp115Val) c.263A>T (p.Asp88Val) c.302A>T (p.Asp101Val) | |
| X | g.154370902T>C | CA415254263 | FLNA | c.344A>G (p.Asp115Gly) c.263A>G (p.Asp88Gly) c.302A>G (p.Asp101Gly) | |
| X | g.154370902T>G | CA415254265 | FLNA | c.344A>C (p.Asp115Ala) c.263A>C (p.Asp88Ala) c.302A>C (p.Asp101Ala) | |
| X | g.154370903C>A | CA415254267 | FLNA | c.343G>T (p.Asp115Tyr) c.262G>T (p.Asp88Tyr) c.301G>T (p.Asp101Tyr) | |
| X | g.154370903C>G | CA415254272 | FLNA | c.343G>C (p.Asp115His) c.262G>C (p.Asp88His) c.301G>C (p.Asp101His) | |
| X | g.154370903C>T | CA415254269 | FLNA | c.343G>A (p.Asp115Asn) c.262G>A (p.Asp88Asn) c.301G>A (p.Asp101Asn) | |
| X | g.154370904del | CA2579738407 | FLNA | c.343del (p.Asp115ThrfsTer20) c.262del (p.Asp88ThrfsTer20) c.301del (p.Asp101ThrfsTer20) | |
| X | g.154370904C>A | CA519277308 | FLNA | c.342G>T (p.Leu114=) c.261G>T (p.Leu87=) c.300G>T (p.Leu100=) | |
| X | g.154370904C>G | CA519277310 | FLNA | c.342G>C (p.Leu114=) c.261G>C (p.Leu87=) c.300G>C (p.Leu100=) | |
| X | g.154370904C>T | CA519277309 | FLNA | c.342G>A (p.Leu114=) c.261G>A (p.Leu87=) c.300G>A (p.Leu100=) | |
| X | g.154370905A>C | CA415254274 | FLNA | c.341T>G (p.Leu114Arg) c.260T>G (p.Leu87Arg) c.299T>G (p.Leu100Arg) | |
| X | g.154370905A>G | CA415254276 | FLNA | c.341T>C (p.Leu114Pro) c.260T>C (p.Leu87Pro) c.299T>C (p.Leu100Pro) | |
| X | g.154370905A>T | CA415254278 | FLNA | c.341T>A (p.Leu114Gln) c.260T>A (p.Leu87Gln) c.299T>A (p.Leu100Gln) | |
| X | g.154370906G>A | CA519277311 | FLNA | c.340C>T (p.Leu114=) c.259C>T (p.Leu87=) c.298C>T (p.Leu100=) | gnomAD v4 |
| X | g.154370906G>C | CA415254281 | FLNA | c.340C>G (p.Leu114Val) c.259C>G (p.Leu87Val) c.298C>G (p.Leu100Val) | |
| X | g.154370906G>T | CA415254283 | FLNA | c.340C>A (p.Leu114Met) c.259C>A (p.Leu87Met) c.298C>A (p.Leu100Met) | |
| X | g.154370907G>A | CA519277312 | FLNA | c.339C>T (p.Phe113=) c.258C>T (p.Phe86=) c.297C>T (p.Phe99=) | ClinVar |
| X | g.154370907G>C | CA415254286 | FLNA | c.339C>G (p.Phe113Leu) c.258C>G (p.Phe86Leu) c.297C>G (p.Phe99Leu) | |
| X | g.154370907G>T | CA415254287 | FLNA | c.339C>A (p.Phe113Leu) c.258C>A (p.Phe86Leu) c.297C>A (p.Phe99Leu) | |
| X | g.154370908A= | CA2466660355 | FLNA | c.338T= (p.Phe113=) c.257T= (p.Phe86=) c.296T= (p.Phe99=) | |
| X | g.154370908A>C | CA415254288 | FLNA | c.338T>G (p.Phe113Cys) c.257T>G (p.Phe86Cys) c.296T>G (p.Phe99Cys) | |
| X | g.154370908A>G | CA415254289 | FLNA | c.338T>C (p.Phe113Ser) c.257T>C (p.Phe86Ser) c.296T>C (p.Phe99Ser) | ClinVar dbSNP |
| X | g.154370908A>T | CA415254291 | FLNA | c.338T>A (p.Phe113Tyr) c.257T>A (p.Phe86Tyr) c.296T>A (p.Phe99Tyr) | |
| X | g.154370909A>C | CA415254294 | FLNA | c.337T>G (p.Phe113Val) c.256T>G (p.Phe86Val) c.295T>G (p.Phe99Val) | |
| X | g.154370909A>G | CA415254298 | FLNA | c.337T>C (p.Phe113Leu) c.256T>C (p.Phe86Leu) c.295T>C (p.Phe99Leu) | |
| X | g.154370909A>T | CA415254296 | FLNA | c.337T>A (p.Phe113Ile) c.256T>A (p.Phe86Ile) c.295T>A (p.Phe99Ile) | |
| X | g.154370910C>A | CA415254300 | FLNA | c.336G>T (p.Glu112Asp) c.255G>T (p.Glu85Asp) c.294G>T (p.Glu98Asp) | |
| X | g.154370910C>G | CA415254302 | FLNA | c.336G>C (p.Glu112Asp) c.255G>C (p.Glu85Asp) c.294G>C (p.Glu98Asp) | |
| X | g.154370910C>T | CA519277313 | FLNA | c.336G>A (p.Glu112=) c.255G>A (p.Glu85=) c.294G>A (p.Glu98=) | |
| X | g.154370911T>A | CA415254304 | FLNA | c.335A>T (p.Glu112Val) c.254A>T (p.Glu85Val) c.293A>T (p.Glu98Val) | |
| X | g.154370911T>C | CA415254306 | FLNA | c.335A>G (p.Glu112Gly) c.254A>G (p.Glu85Gly) c.293A>G (p.Glu98Gly) | |
| X | g.154370911T>G | CA415254307 | FLNA | c.335A>C (p.Glu112Ala) c.254A>C (p.Glu85Ala) c.293A>C (p.Glu98Ala) | |
| X | g.154370912C>A | CA415254309 | FLNA | c.334G>T (p.Glu112Ter) c.253G>T (p.Glu85Ter) c.292G>T (p.Glu98Ter) | |
| X | g.154370912C>G | CA415254310 | FLNA | c.334G>C (p.Glu112Gln) c.253G>C (p.Glu85Gln) c.292G>C (p.Glu98Gln) | |
| X | g.154370912C>T | CA415254312 | FLNA | c.334G>A (p.Glu112Lys) c.253G>A (p.Glu85Lys) c.292G>A (p.Glu98Lys) | |
| X | g.154370912_154370913insCGACACGTTCTCC | CA2499226488 | FLNA | c.334_335insGAGAACGTGTCGG (p.Glu112GlyfsTer?) c.253_254insGAGAACGTGTCGG (p.Glu85GlyfsTer?) c.292_293insGAGAACGTGTCGG (p.Glu98GlyfsTer?) | ClinVar dbSNP |
| X | g.154370913G>A | CA10561448 | FLNA | c.333C>T (p.Leu111=) c.252C>T (p.Leu84=) c.291C>T (p.Leu97=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154370913G>C | CA519277314 | FLNA | c.333C>G (p.Leu111=) c.252C>G (p.Leu84=) c.291C>G (p.Leu97=) | |
| X | g.154370913G= | CA2466660356 | FLNA | c.333C= (p.Leu111=) c.252C= (p.Leu84=) c.291C= (p.Leu97=) | |
| X | g.154370913G>T | CA519277315 | FLNA | c.333C>A (p.Leu111=) c.252C>A (p.Leu84=) c.291C>A (p.Leu97=) | |
| X | g.154370914A>C | CA415254317 | FLNA | c.332T>G (p.Leu111Arg) c.251T>G (p.Leu84Arg) c.290T>G (p.Leu97Arg) | |
| X | g.154370914A>G | CA415254318 | FLNA | c.332T>C (p.Leu111Pro) c.251T>C (p.Leu84Pro) c.290T>C (p.Leu97Pro) | |
| X | g.154370914A>T | CA415254320 | FLNA | c.332T>A (p.Leu111His) c.251T>A (p.Leu84His) c.290T>A (p.Leu97His) | |
| X | g.154370915G>A | CA415254323 | FLNA | c.331C>T (p.Leu111Phe) c.250C>T (p.Leu84Phe) c.289C>T (p.Leu97Phe) | |
| X | g.154370915G>C | CA415254325 | FLNA | c.331C>G (p.Leu111Val) c.250C>G (p.Leu84Val) c.289C>G (p.Leu97Val) | ClinVar |
| X | g.154370915G>T | CA415254324 | FLNA | c.331C>A (p.Leu111Ile) c.250C>A (p.Leu84Ile) c.289C>A (p.Leu97Ile) |