Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154367740_154367842del | CA519709779 | FLNA | c.622+2_623del c.541+2_542del c.580+2_581del | |
X | g.154367779C>A | CA645290450 | FLNA | c.623-41G>T (n.623-41G>T) c.542-41G>T (n.542-41G>T) c.581-41G>T (n.581-41G>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154367779C= | CA2466659013 | FLNA | c.623-41G= (n.623-41G=) c.542-41G= (n.542-41G=) c.581-41G= (n.581-41G=) | |
X | g.154367779C>G | CA645290451 | FLNA | c.623-41G>C (n.623-41G>C) c.542-41G>C (n.542-41G>C) c.581-41G>C (n.581-41G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154367779C>T | CA10561387 | FLNA | c.623-41G>A (n.623-41G>A) c.542-41G>A (n.542-41G>A) c.581-41G>A (n.581-41G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154367780C>T | CA2695082987 | FLNA | c.623-42G>A (n.623-42G>A) c.542-42G>A (n.542-42G>A) c.581-42G>A (n.581-42G>A) | gnomAD v4 |
X | g.154367781C>T | CA2558130291 | FLNA | c.623-43G>A (n.623-43G>A) c.542-43G>A (n.542-43G>A) c.581-43G>A (n.581-43G>A) | gnomAD v4 |
X | g.154367783C>G | CA2503638722 | FLNA | c.623-45G>C (n.623-45G>C) c.542-45G>C (n.542-45G>C) c.581-45G>C (n.581-45G>C) | gnomAD v4 |
X | g.154367784T>G | CA2579738364 | FLNA | c.623-46A>C (n.623-46A>C) c.542-46A>C (n.542-46A>C) c.581-46A>C (n.581-46A>C) | |
X | g.154367787A= | CA2466659014 | FLNA | c.623-49T= (n.623-49T=) c.542-49T= (n.542-49T=) c.581-49T= (n.581-49T=) | |
X | g.154367787A>G | CA10561388 | FLNA | c.623-49T>C (n.623-49T>C) c.542-49T>C (n.542-49T>C) c.581-49T>C (n.581-49T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154367788G>A | CA873345212 | FLNA | c.623-50C>T (n.623-50C>T) c.542-50C>T (n.542-50C>T) c.581-50C>T (n.581-50C>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154367788G= | CA2466659015 | FLNA | c.623-50C= (n.623-50C=) c.542-50C= (n.542-50C=) c.581-50C= (n.581-50C=) | |
X | g.154367789G>A | CA2579738365 | FLNA | c.623-51C>T (n.623-51C>T) c.542-51C>T (n.542-51C>T) c.581-51C>T (n.581-51C>T) | gnomAD v4 |
X | g.154367789G>T | CA2503392806 | FLNA | c.623-51C>A (n.623-51C>A) c.542-51C>A (n.542-51C>A) c.581-51C>A (n.581-51C>A) | |
X | g.154367790G>A | CA2824282208 | FLNA | c.623-52C>T (n.623-52C>T) c.542-52C>T (n.542-52C>T) c.581-52C>T (n.581-52C>T) | |
X | g.154367791C>T | CA2579738366 | FLNA | c.622+51G>A (n.622+51G>A) c.541+51G>A (n.541+51G>A) c.580+51G>A (n.580+51G>A) | |
X | g.154367792C>A | CA2695082988 | FLNA | c.622+50G>T (n.622+50G>T) c.541+50G>T (n.541+50G>T) c.580+50G>T (n.580+50G>T) | gnomAD v4 |
X | g.154367795C= | CA2466659016 | FLNA | c.622+47G= (n.622+47G=) c.541+47G= (n.541+47G=) c.580+47G= (n.580+47G=) | |
X | g.154367796C>T | CA2529390332 | FLNA | c.622+46G>A (n.622+46G>A) c.541+46G>A (n.541+46G>A) c.580+46G>A (n.580+46G>A) | |
X | g.154367796_154367797insTC | CA10561389 | FLNA | c.622+46_622+47insAG (n.622+46_622+47insAG) c.541+46_541+47insAG (n.541+46_541+47insAG) c.580+46_580+47insAG (n.580+46_580+47insAG) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154367797A= | CA2466659017 | FLNA | c.622+45T= (n.622+45T=) c.541+45T= (n.541+45T=) c.580+45T= (n.580+45T=) | |
X | g.154367797A>G | CA915938875 | FLNA | c.622+45T>C (n.622+45T>C) c.541+45T>C (n.541+45T>C) c.580+45T>C (n.580+45T>C) | dbSNP gnomAD v2 |
X | g.154367798T>A | CA10561390 | FLNA | c.622+44A>T (n.622+44A>T) c.541+44A>T (n.541+44A>T) c.580+44A>T (n.580+44A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154367798T>G | CA2824282211 | FLNA | c.622+44A>C (n.622+44A>C) c.541+44A>C (n.541+44A>C) c.580+44A>C (n.580+44A>C) | |
X | g.154367798T= | CA2466659018 | FLNA | c.622+44A= (n.622+44A=) c.541+44A= (n.541+44A=) c.580+44A= (n.580+44A=) | |
X | g.154367799G= | CA2466659019 | FLNA | c.622+43C= (n.622+43C=) c.541+43C= (n.541+43C=) c.580+43C= (n.580+43C=) | |
X | g.154367799G>T | CA10561391 | FLNA | c.622+43C>A (n.622+43C>A) c.541+43C>A (n.541+43C>A) c.580+43C>A (n.580+43C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154367800G>A | CA10561392 | FLNA | c.622+42C>T (n.622+42C>T) c.541+42C>T (n.541+42C>T) c.580+42C>T (n.580+42C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154367800G= | CA2466659020 | FLNA | c.622+42C= (n.622+42C=) c.541+42C= (n.541+42C=) c.580+42C= (n.580+42C=) | |
X | g.154367801G>A | CA2695082989 | FLNA | c.622+41C>T (n.622+41C>T) c.541+41C>T (n.541+41C>T) c.580+41C>T (n.580+41C>T) | dbSNP gnomAD v4 |
X | g.154367802T>A | CA645290452 | FLNA | c.622+40A>T (n.622+40A>T) c.541+40A>T (n.541+40A>T) c.580+40A>T (n.580+40A>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154367802T= | CA2466659021 | FLNA | c.622+40A= (n.622+40A=) c.541+40A= (n.541+40A=) c.580+40A= (n.580+40A=) | |
X | g.154367803G>T | CA2695082990 | FLNA | c.622+39C>A (n.622+39C>A) c.541+39C>A (n.541+39C>A) c.580+39C>A (n.580+39C>A) | gnomAD v4 |
X | g.154367804A>G | CA2533405665 | FLNA | c.622+38T>C (n.622+38T>C) c.541+38T>C (n.541+38T>C) c.580+38T>C (n.580+38T>C) | |
X | g.154367805C>A | CA2695082992 | FLNA | c.622+37G>T (n.622+37G>T) c.541+37G>T (n.541+37G>T) c.580+37G>T (n.580+37G>T) | gnomAD v4 |
X | g.154367805C>T | CA2695082991 | FLNA | c.622+37G>A (n.622+37G>A) c.541+37G>A (n.541+37G>A) c.580+37G>A (n.580+37G>A) | gnomAD v4 |
X | g.154367808dup | CA2579738367 | FLNA | c.622+37dup (n.622+37dup) c.541+37dup (n.541+37dup) c.580+37dup (n.580+37dup) | |
X | g.154367808del | CA2579738368 | FLNA | c.622+37del (n.622+37del) c.541+37del (n.541+37del) c.580+37del (n.580+37del) | |
X | g.154367806C>A | CA10561393 | FLNA | c.622+36G>T (n.622+36G>T) c.541+36G>T (n.541+36G>T) c.580+36G>T (n.580+36G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154367806C= | CA2466659022 | FLNA | c.622+36G= (n.622+36G=) c.541+36G= (n.541+36G=) c.580+36G= (n.580+36G=) | |
X | g.154367807C= | CA2466659023 | FLNA | c.622+35G= (n.622+35G=) c.541+35G= (n.541+35G=) c.580+35G= (n.580+35G=) | |
X | g.154367807C>G | CA2466659024 | FLNA | c.622+35G>C (n.622+35G>C) c.541+35G>C (n.541+35G>C) c.580+35G>C (n.580+35G>C) | dbSNP gnomAD v4 |
X | g.154367808C>T | CA2695082993 | FLNA | c.622+34G>A (n.622+34G>A) c.541+34G>A (n.541+34G>A) c.580+34G>A (n.580+34G>A) | gnomAD v4 |
X | g.154367809A>C | CA2695082994 | FLNA | c.622+33T>G (n.622+33T>G) c.541+33T>G (n.541+33T>G) c.580+33T>G (n.580+33T>G) | gnomAD v4 |
X | g.154367810G>A | CA2695082995 | FLNA | c.622+32C>T (n.622+32C>T) c.541+32C>T (n.541+32C>T) c.580+32C>T (n.580+32C>T) | gnomAD v4 |
X | g.154367811C>A | CA10561394 | FLNA | c.622+31G>T (n.622+31G>T) c.541+31G>T (n.541+31G>T) c.580+31G>T (n.580+31G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154367811C= | CA2466659025 | FLNA | c.622+31G= (n.622+31G=) c.541+31G= (n.541+31G=) c.580+31G= (n.580+31G=) | |
X | g.154367813C>T | CA2579738369 | FLNA | c.622+29G>A (n.622+29G>A) c.541+29G>A (n.541+29G>A) c.580+29G>A (n.580+29G>A) | dbSNP gnomAD v4 |
X | g.154367818T>C | CA2695082996 | FLNA | c.622+24A>G (n.622+24A>G) c.541+24A>G (n.541+24A>G) c.580+24A>G (n.580+24A>G) | gnomAD v4 |
X | g.154367819C= | CA2466659026 | FLNA | c.622+23G= (n.622+23G=) c.541+23G= (n.541+23G=) c.580+23G= (n.580+23G=) | |
X | g.154367819C>G | CA2695082998 | FLNA | c.622+23G>C (n.622+23G>C) c.541+23G>C (n.541+23G>C) c.580+23G>C (n.580+23G>C) | gnomAD v4 |
X | g.154367819C>T | CA10561395 | FLNA | c.622+23G>A (n.622+23G>A) c.541+23G>A (n.541+23G>A) c.580+23G>A (n.580+23G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154367821C= | CA2466659027 | FLNA | c.622+21G= (n.622+21G=) c.541+21G= (n.541+21G=) c.580+21G= (n.580+21G=) | |
X | g.154367821C>T | CA873345221 | FLNA | c.622+21G>A (n.622+21G>A) c.541+21G>A (n.541+21G>A) c.580+21G>A (n.580+21G>A) | dbSNP |
X | g.154367824G= | CA2466659028 | FLNA | c.622+18C= (n.622+18C=) c.541+18C= (n.541+18C=) c.580+18C= (n.580+18C=) | |
X | g.154367824G>T | CA10561396 | FLNA | c.622+18C>A (n.622+18C>A) c.541+18C>A (n.541+18C>A) c.580+18C>A (n.580+18C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154367825C>A | CA2466659030 | FLNA | c.622+17G>T (n.622+17G>T) c.541+17G>T (n.541+17G>T) c.580+17G>T (n.580+17G>T) | dbSNP |
X | g.154367825C= | CA2466659029 | FLNA | c.622+17G= (n.622+17G=) c.541+17G= (n.541+17G=) c.580+17G= (n.580+17G=) | |
X | g.154367826C= | CA2466659031 | FLNA | c.622+16G= (n.622+16G=) c.541+16G= (n.541+16G=) c.580+16G= (n.580+16G=) | |
X | g.154367826C>T | CA10561397 | FLNA | c.622+16G>A (n.622+16G>A) c.541+16G>A (n.541+16G>A) c.580+16G>A (n.580+16G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154367827T>C | CA2695083001 | FLNA | c.622+15A>G (n.622+15A>G) c.541+15A>G (n.541+15A>G) c.580+15A>G (n.580+15A>G) | gnomAD v4 |
X | g.154367829T>C | CA10561398 | FLNA | c.622+13A>G (n.622+13A>G) c.541+13A>G (n.541+13A>G) c.580+13A>G (n.580+13A>G) | dbSNP ExAC gnomAD v2 |
X | g.154367829T= | CA2466659032 | FLNA | c.622+13A= (n.622+13A=) c.541+13A= (n.541+13A=) c.580+13A= (n.580+13A=) | |
X | g.154367830G>A | CA873345228 | FLNA | c.622+12C>T (n.622+12C>T) c.541+12C>T (n.541+12C>T) c.580+12C>T (n.580+12C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.154367830G= | CA2466659033 | FLNA | c.622+12C= (n.622+12C=) c.541+12C= (n.541+12C=) c.580+12C= (n.580+12C=) | |
X | g.154367831C= | CA2466659034 | FLNA | c.622+11G= (n.622+11G=) c.541+11G= (n.541+11G=) c.580+11G= (n.580+11G=) | |
X | g.154367831C>T | CA645290453 | FLNA | c.622+11G>A (n.622+11G>A) c.541+11G>A (n.541+11G>A) c.580+11G>A (n.580+11G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154367832G>A | CA10561399 | FLNA | c.622+10C>T (n.622+10C>T) c.541+10C>T (n.541+10C>T) c.580+10C>T (n.580+10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154367832G= | CA2466659035 | FLNA | c.622+10C= (n.622+10C=) c.541+10C= (n.541+10C=) c.580+10C= (n.580+10C=) | |
X | g.154367833C= | CA2466659036 | FLNA | c.622+9G= (n.622+9G=) c.541+9G= (n.541+9G=) c.580+9G= (n.580+9G=) | |
X | g.154367833C>G | CA2573159438 | FLNA | c.622+9G>C (n.622+9G>C) c.541+9G>C (n.541+9G>C) c.580+9G>C (n.580+9G>C) | ClinVar dbSNP |
X | g.154367833C>T | CA10561400 | FLNA | c.622+9G>A (n.622+9G>A) c.541+9G>A (n.541+9G>A) c.580+9G>A (n.580+9G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154367836C>A | CA2824282225 | FLNA | c.622+6G>T (n.622+6G>T) c.541+6G>T (n.541+6G>T) c.580+6G>T (n.580+6G>T) | |
X | g.154367836C= | CA2466659037 | FLNA | c.622+6G= (n.622+6G=) c.541+6G= (n.541+6G=) c.580+6G= (n.580+6G=) | |
X | g.154367836C>G | CA2740090210 | FLNA | c.622+6G>C (n.622+6G>C) c.541+6G>C (n.541+6G>C) c.580+6G>C (n.580+6G>C) | ClinVar |
X | g.154367836C>T | CA2466659038 | FLNA | c.622+6G>A (n.622+6G>A) c.541+6G>A (n.541+6G>A) c.580+6G>A (n.580+6G>A) | ClinVar dbSNP |
X | g.154367837C= | CA2466659039 | FLNA | c.622+5G= (n.622+5G=) c.541+5G= (n.541+5G=) c.580+5G= (n.580+5G=) | |
X | g.154367837C>G | CA1139667850 | FLNA | c.622+5G>C (n.622+5G>C) c.541+5G>C (n.541+5G>C) c.580+5G>C (n.580+5G>C) | ClinVar dbSNP |
X | g.154367838T>A | CA2579738370 | FLNA | c.622+4A>T (n.622+4A>T) c.541+4A>T (n.541+4A>T) c.580+4A>T (n.580+4A>T) | |
X | g.154367838T>G | CA2824282230 | FLNA | c.622+4A>C (n.622+4A>C) c.541+4A>C (n.541+4A>C) c.580+4A>C (n.580+4A>C) | |
X | g.154367839C>A | CA2824282231 | FLNA | c.622+3G>T (n.622+3G>T) c.541+3G>T (n.541+3G>T) c.580+3G>T (n.580+3G>T) | |
X | g.154367839C>T | CA2573159439 | FLNA | c.622+3G>A (n.622+3G>A) c.541+3G>A (n.541+3G>A) c.580+3G>A (n.580+3G>A) | ClinVar dbSNP |
X | g.154367840A>C | CA415248959 | FLNA | c.622+2T>G (n.622+2T>G) c.541+2T>G (n.541+2T>G) c.580+2T>G (n.580+2T>G) | |
X | g.154367840A>G | CA415248958 | FLNA | c.622+2T>C (n.622+2T>C) c.541+2T>C (n.541+2T>C) c.580+2T>C (n.580+2T>C) | |
X | g.154367840A>T | CA415248960 | FLNA | c.622+2T>A (n.622+2T>A) c.541+2T>A (n.541+2T>A) c.580+2T>A (n.580+2T>A) | |
X | g.154367841C>A | CA415248961 | FLNA | c.622+1G>T (n.622+1G>T) c.541+1G>T (n.541+1G>T) c.580+1G>T (n.580+1G>T) | |
X | g.154367841C>G | CA415248962 | FLNA | c.622+1G>C (n.622+1G>C) c.541+1G>C (n.541+1G>C) c.580+1G>C (n.580+1G>C) | |
X | g.154367841C>T | CA415248963 | FLNA | c.622+1G>A (n.622+1G>A) c.541+1G>A (n.541+1G>A) c.580+1G>A (n.580+1G>A) | ClinVar dbSNP |
X | g.154367842C>A | CA415248964 | FLNA | c.622G>T (p.Gly208Cys) c.541G>T (p.Gly181Cys) c.580G>T (p.Gly194Cys) | |
X | g.154367842C= | CA2466659040 | FLNA | c.622G= (p.Gly208=) c.541G= (p.Gly181=) c.580G= (p.Gly194=) | |
X | g.154367842C>G | CA204972 | FLNA | c.622G>C (p.Gly208Arg) c.541G>C (p.Gly181Arg) c.580G>C (p.Gly194Arg) | ClinVar dbSNP |
X | g.154367842C>T | CA415248965 | FLNA | c.622G>A (p.Gly208Ser) c.541G>A (p.Gly181Ser) c.580G>A (p.Gly194Ser) | |
X | g.154367843C>A | CA519709832 | FLNA | c.621G>T (p.Pro207=) c.540G>T (p.Pro180=) c.579G>T (p.Pro193=) | gnomAD v4 |
X | g.154367843C= | CA2466659041 | FLNA | c.621G= (p.Pro207=) c.540G= (p.Pro180=) c.579G= (p.Pro193=) | |
X | g.154367843C>G | CA519709833 | FLNA | c.621G>C (p.Pro207=) c.540G>C (p.Pro180=) c.579G>C (p.Pro193=) | ClinVar |
X | g.154367843C>T | CA10561401 | FLNA | c.621G>A (p.Pro207=) c.540G>A (p.Pro180=) c.579G>A (p.Pro193=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.154367844G>A | CA256056 | FLNA | c.620C>T (p.Pro207Leu) c.539C>T (p.Pro180Leu) c.578C>T (p.Pro193Leu) | ClinVar dbSNP COSMIC COSMIC |
X | g.154367844G>C | CA415248966 | FLNA | c.620C>G (p.Pro207Arg) c.539C>G (p.Pro180Arg) c.578C>G (p.Pro193Arg) | |
X | g.154367844G= | CA2466659042 | FLNA | c.620C= (p.Pro207=) c.539C= (p.Pro180=) c.578C= (p.Pro193=) | |
X | g.154367844G>T | CA415248967 | FLNA | c.620C>A (p.Pro207Gln) c.539C>A (p.Pro180Gln) c.578C>A (p.Pro193Gln) | ClinVar dbSNP |
X | g.154367845G>A | CA415248968 | FLNA | c.619C>T (p.Pro207Ser) c.538C>T (p.Pro180Ser) c.577C>T (p.Pro193Ser) | ClinVar dbSNP |
X | g.154367845G>C | CA415248969 | FLNA | c.619C>G (p.Pro207Ala) c.538C>G (p.Pro180Ala) c.577C>G (p.Pro193Ala) | |
X | g.154367845G= | CA2466659043 | FLNA | c.619C= (p.Pro207=) c.538C= (p.Pro180=) c.577C= (p.Pro193=) | |
X | g.154367845G>T | CA415248970 | FLNA | c.619C>A (p.Pro207Thr) c.538C>A (p.Pro180Thr) c.577C>A (p.Pro193Thr) | |
X | g.154367846G>A | CA519709848 | FLNA | c.618C>T (p.Ala206=) c.537C>T (p.Ala179=) c.576C>T (p.Ala192=) | |
X | g.154367846G>C | CA519709849 | FLNA | c.618C>G (p.Ala206=) c.537C>G (p.Ala179=) c.576C>G (p.Ala192=) | |
X | g.154367846G>T | CA519709850 | FLNA | c.618C>A (p.Ala206=) c.537C>A (p.Ala179=) c.576C>A (p.Ala192=) | |
X | g.154367847G>A | CA16621258 | FLNA | c.617C>T (p.Ala206Val) c.536C>T (p.Ala179Val) c.575C>T (p.Ala192Val) | ClinVar dbSNP gnomAD v4 |
X | g.154367847G>C | CA415248972 | FLNA | c.617C>G (p.Ala206Gly) c.536C>G (p.Ala179Gly) c.575C>G (p.Ala192Gly) | gnomAD v4 |
X | g.154367847G= | CA2466659044 | FLNA | c.617C= (p.Ala206=) c.536C= (p.Ala179=) c.575C= (p.Ala192=) | |
X | g.154367847G>T | CA415248971 | FLNA | c.617C>A (p.Ala206Asp) c.536C>A (p.Ala179Asp) c.575C>A (p.Ala192Asp) | |
X | g.154367848C>A | CA415248973 | FLNA | c.616G>T (p.Ala206Ser) c.535G>T (p.Ala179Ser) c.574G>T (p.Ala192Ser) | |
X | g.154367848C>G | CA415248974 | FLNA | c.616G>C (p.Ala206Pro) c.535G>C (p.Ala179Pro) c.574G>C (p.Ala192Pro) | |
X | g.154367848C>T | CA415248975 | FLNA | c.616G>A (p.Ala206Thr) c.535G>A (p.Ala179Thr) c.574G>A (p.Ala192Thr) | |
X | g.154367849A= | CA2466659045 | FLNA | c.615T= (p.Cys205=) c.534T= (p.Cys178=) c.573T= (p.Cys191=) | |
X | g.154367849A>C | CA415248976 | FLNA | c.615T>G (p.Cys205Trp) c.534T>G (p.Cys178Trp) c.573T>G (p.Cys191Trp) | |
X | g.154367849A>G | CA519709859 | FLNA | c.615T>C (p.Cys205=) c.534T>C (p.Cys178=) c.573T>C (p.Cys191=) | dbSNP |
X | g.154367849A>T | CA415248977 | FLNA | c.615T>A (p.Cys205Ter) c.534T>A (p.Cys178Ter) c.573T>A (p.Cys191Ter) | |
X | g.154367850C>A | CA415248978 | FLNA | c.614G>T (p.Cys205Phe) c.533G>T (p.Cys178Phe) c.572G>T (p.Cys191Phe) | |
X | g.154367850C>G | CA415248979 | FLNA | c.614G>C (p.Cys205Ser) c.533G>C (p.Cys178Ser) c.572G>C (p.Cys191Ser) | |
X | g.154367850C>T | CA415248980 | FLNA | c.614G>A (p.Cys205Tyr) c.533G>A (p.Cys178Tyr) c.572G>A (p.Cys191Tyr) | |
X | g.154367851A>C | CA415248981 | FLNA | c.613T>G (p.Cys205Gly) c.532T>G (p.Cys178Gly) c.571T>G (p.Cys191Gly) | |
X | g.154367851A>G | CA415248982 | FLNA | c.613T>C (p.Cys205Arg) c.532T>C (p.Cys178Arg) c.571T>C (p.Cys191Arg) | |
X | g.154367851A>T | CA415248983 | FLNA | c.613T>A (p.Cys205Ser) c.532T>A (p.Cys178Ser) c.571T>A (p.Cys191Ser) | |
X | g.154367852G>A | CA519709867 | FLNA | c.612C>T (p.Ser204=) c.531C>T (p.Ser177=) c.570C>T (p.Ser190=) | |
X | g.154367852G>C | CA415248984 | FLNA | c.612C>G (p.Ser204Arg) c.531C>G (p.Ser177Arg) c.570C>G (p.Ser190Arg) | |
X | g.154367852G>T | CA415248985 | FLNA | c.612C>A (p.Ser204Arg) c.531C>A (p.Ser177Arg) c.570C>A (p.Ser190Arg) | |
X | g.154367853C>A | CA415248987 | FLNA | c.611G>T (p.Ser204Ile) c.530G>T (p.Ser177Ile) c.569G>T (p.Ser190Ile) | |
X | g.154367853C>G | CA415248989 | FLNA | c.611G>C (p.Ser204Thr) c.530G>C (p.Ser177Thr) c.569G>C (p.Ser190Thr) | |
X | g.154367853C>T | CA415248986 | FLNA | c.611G>A (p.Ser204Asn) c.530G>A (p.Ser177Asn) c.569G>A (p.Ser190Asn) | |
X | g.154367854T>A | CA415248991 | FLNA | c.610A>T (p.Ser204Cys) c.529A>T (p.Ser177Cys) c.568A>T (p.Ser190Cys) | |
X | g.154367854T>C | CA415248993 | FLNA | c.610A>G (p.Ser204Gly) c.529A>G (p.Ser177Gly) c.568A>G (p.Ser190Gly) | |
X | g.154367854T>G | CA415248995 | FLNA | c.610A>C (p.Ser204Arg) c.529A>C (p.Ser177Arg) c.568A>C (p.Ser190Arg) | |
X | g.154367855G>A | CA519709877 | FLNA | c.609C>T (p.Asp203=) c.528C>T (p.Asp176=) c.567C>T (p.Asp189=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154367855G>C | CA415248998 | FLNA | c.609C>G (p.Asp203Glu) c.528C>G (p.Asp176Glu) c.567C>G (p.Asp189Glu) | |
X | g.154367855G= | CA2466659046 | FLNA | c.609C= (p.Asp203=) c.528C= (p.Asp176=) c.567C= (p.Asp189=) | |
X | g.154367855G>T | CA415249001 | FLNA | c.609C>A (p.Asp203Glu) c.528C>A (p.Asp176Glu) c.567C>A (p.Asp189Glu) | |
X | g.154367856T>A | CA415249005 | FLNA | c.608A>T (p.Asp203Val) c.527A>T (p.Asp176Val) c.566A>T (p.Asp189Val) | |
X | g.154367856T>C | CA415249007 | FLNA | c.608A>G (p.Asp203Gly) c.527A>G (p.Asp176Gly) c.566A>G (p.Asp189Gly) | |
X | g.154367856T>G | CA415249008 | FLNA | c.608A>C (p.Asp203Ala) c.527A>C (p.Asp176Ala) c.566A>C (p.Asp189Ala) | |
X | g.154367857C>A | CA256060 | FLNA | c.607G>T (p.Asp203Tyr) c.526G>T (p.Asp176Tyr) c.565G>T (p.Asp189Tyr) | ClinVar dbSNP |
X | g.154367857C= | CA2466659047 | FLNA | c.607G= (p.Asp203=) c.526G= (p.Asp176=) c.565G= (p.Asp189=) | |
X | g.154367857C>G | CA415249013 | FLNA | c.607G>C (p.Asp203His) c.526G>C (p.Asp176His) c.565G>C (p.Asp189His) | |
X | g.154367857C>T | CA415249015 | FLNA | c.607G>A (p.Asp203Asn) c.526G>A (p.Asp176Asn) c.565G>A (p.Asp189Asn) | |
X | g.154367858C>A | CA519709886 | FLNA | c.606G>T (p.Val202=) c.525G>T (p.Val175=) c.564G>T (p.Val188=) | |
X | g.154367858C>G | CA519709889 | FLNA | c.606G>C (p.Val202=) c.525G>C (p.Val175=) c.564G>C (p.Val188=) | |
X | g.154367858C>T | CA519709885 | FLNA | c.606G>A (p.Val202=) c.525G>A (p.Val175=) c.564G>A (p.Val188=) | |
X | g.154367859A>C | CA415249023 | FLNA | c.605T>G (p.Val202Gly) c.524T>G (p.Val175Gly) c.563T>G (p.Val188Gly) | |
X | g.154367859A>G | CA415249021 | FLNA | c.605T>C (p.Val202Ala) c.524T>C (p.Val175Ala) c.563T>C (p.Val188Ala) | |
X | g.154367859A>T | CA415249018 | FLNA | c.605T>A (p.Val202Glu) c.524T>A (p.Val175Glu) c.563T>A (p.Val188Glu) | |
X | g.154367860C>A | CA415249026 | FLNA | c.604G>T (p.Val202Leu) c.523G>T (p.Val175Leu) c.562G>T (p.Val188Leu) | |
X | g.154367860C>G | CA415249028 | FLNA | c.604G>C (p.Val202Leu) c.523G>C (p.Val175Leu) c.562G>C (p.Val188Leu) | |
X | g.154367860C>T | CA415249030 | FLNA | c.604G>A (p.Val202Met) c.523G>A (p.Val175Met) c.562G>A (p.Val188Met) | |
X | g.154367861C>A | CA519709901 | FLNA | c.603G>T (p.Leu201=) c.522G>T (p.Leu174=) c.561G>T (p.Leu187=) | COSMIC COSMIC |
X | g.154367861C>G | CA519709897 | FLNA | c.603G>C (p.Leu201=) c.522G>C (p.Leu174=) c.561G>C (p.Leu187=) | |
X | g.154367861C>T | CA519709899 | FLNA | c.603G>A (p.Leu201=) c.522G>A (p.Leu174=) c.561G>A (p.Leu187=) | |
X | g.154367862A>C | CA415249033 | FLNA | c.602T>G (p.Leu201Arg) c.521T>G (p.Leu174Arg) c.560T>G (p.Leu187Arg) | |
X | g.154367862A>G | CA415249036 | FLNA | c.602T>C (p.Leu201Pro) c.521T>C (p.Leu174Pro) c.560T>C (p.Leu187Pro) | |
X | g.154367862A>T | CA415249041 | FLNA | c.602T>A (p.Leu201Gln) c.521T>A (p.Leu174Gln) c.560T>A (p.Leu187Gln) | |
X | g.154367863G>A | CA519709903 | FLNA | c.601C>T (p.Leu201=) c.520C>T (p.Leu174=) c.559C>T (p.Leu187=) | ClinVar dbSNP gnomAD v4 |
X | g.154367863G>C | CA415249046 | FLNA | c.601C>G (p.Leu201Val) c.520C>G (p.Leu174Val) c.559C>G (p.Leu187Val) | |
X | g.154367863G>T | CA415249049 | FLNA | c.601C>A (p.Leu201Met) c.520C>A (p.Leu174Met) c.559C>A (p.Leu187Met) | |
X | g.154367864G>A | CA519709905 | FLNA | c.600C>T (p.Ala200=) c.519C>T (p.Ala173=) c.558C>T (p.Ala186=) | ClinVar gnomAD v4 |
X | g.154367864G>C | CA519709909 | FLNA | c.600C>G (p.Ala200=) c.519C>G (p.Ala173=) c.558C>G (p.Ala186=) | |
X | g.154367864G>T | CA519709907 | FLNA | c.600C>A (p.Ala200=) c.519C>A (p.Ala173=) c.558C>A (p.Ala186=) | |
X | g.154367865G>A | CA415249052 | FLNA | c.599C>T (p.Ala200Val) c.518C>T (p.Ala173Val) c.557C>T (p.Ala186Val) | |
X | g.154367865G>C | CA415249054 | FLNA | c.599C>G (p.Ala200Gly) c.518C>G (p.Ala173Gly) c.557C>G (p.Ala186Gly) | |
X | g.154367865G>T | CA415249056 | FLNA | c.599C>A (p.Ala200Asp) c.518C>A (p.Ala173Asp) c.557C>A (p.Ala186Asp) | |
X | g.154367866C>A | CA415249059 | FLNA | c.598G>T (p.Ala200Ser) c.517G>T (p.Ala173Ser) c.556G>T (p.Ala186Ser) | |
X | g.154367866C= | CA2466659048 | FLNA | c.598G= (p.Ala200=) c.517G= (p.Ala173=) c.556G= (p.Ala186=) | |
X | g.154367866C>G | CA415249064 | FLNA | c.598G>C (p.Ala200Pro) c.517G>C (p.Ala173Pro) c.556G>C (p.Ala186Pro) | |
X | g.154367866C>T | CA415249061 | FLNA | c.598G>A (p.Ala200Thr) c.517G>A (p.Ala173Thr) c.556G>A (p.Ala186Thr) | dbSNP gnomAD v4 |
X | g.154367867G>A | CA337284381 | FLNA | c.597C>T (p.Gly199=) c.516C>T (p.Gly172=) c.555C>T (p.Gly185=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154367867G>C | CA519709915 | FLNA | c.597C>G (p.Gly199=) c.516C>G (p.Gly172=) c.555C>G (p.Gly185=) | |
X | g.154367867G= | CA2466659049 | FLNA | c.597C= (p.Gly199=) c.516C= (p.Gly172=) c.555C= (p.Gly185=) | |
X | g.154367867G>T | CA519709917 | FLNA | c.597C>A (p.Gly199=) c.516C>A (p.Gly172=) c.555C>A (p.Gly185=) | |
X | g.154367868C>A | CA415249069 | FLNA | c.596G>T (p.Gly199Val) c.515G>T (p.Gly172Val) c.554G>T (p.Gly185Val) | |
X | g.154367868C>G | CA415249072 | FLNA | c.596G>C (p.Gly199Ala) c.515G>C (p.Gly172Ala) c.554G>C (p.Gly185Ala) | |
X | g.154367868C>T | CA415249074 | FLNA | c.596G>A (p.Gly199Asp) c.515G>A (p.Gly172Asp) c.554G>A (p.Gly185Asp) | |
X | g.154367870del | CA2695236983 | FLNA | c.596del (p.Gly199AlafsTer?) c.515del (p.Gly172AlafsTer?) c.554del (p.Gly185AlafsTer?) | |
X | g.154367869C>A | CA415249079 | FLNA | c.595G>T (p.Gly199Cys) c.514G>T (p.Gly172Cys) c.553G>T (p.Gly185Cys) | |
X | g.154367869C>G | CA415249081 | FLNA | c.595G>C (p.Gly199Arg) c.514G>C (p.Gly172Arg) c.553G>C (p.Gly185Arg) | |
X | g.154367869C>T | CA415249083 | FLNA | c.595G>A (p.Gly199Ser) c.514G>A (p.Gly172Ser) c.553G>A (p.Gly185Ser) | |
X | g.154367870C>A | CA519709918 | FLNA | c.594G>T (p.Leu198=) c.513G>T (p.Leu171=) c.552G>T (p.Leu184=) | |
X | g.154367870C= | CA2466659050 | FLNA | c.594G= (p.Leu198=) c.513G= (p.Leu171=) c.552G= (p.Leu184=) | |
X | g.154367870C>G | CA519709919 | FLNA | c.594G>C (p.Leu198=) c.513G>C (p.Leu171=) c.552G>C (p.Leu184=) | |
X | g.154367870C>T | CA519709921 | FLNA | c.594G>A (p.Leu198=) c.513G>A (p.Leu171=) c.552G>A (p.Leu184=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154367871A>C | CA415249086 | FLNA | c.593T>G (p.Leu198Arg) c.512T>G (p.Leu171Arg) c.551T>G (p.Leu184Arg) | |
X | g.154367871A>G | CA415249087 | FLNA | c.593T>C (p.Leu198Pro) c.512T>C (p.Leu171Pro) c.551T>C (p.Leu184Pro) | |
X | g.154367871A>T | CA415249089 | FLNA | c.593T>A (p.Leu198Gln) c.512T>A (p.Leu171Gln) c.551T>A (p.Leu184Gln) | |
X | g.154367872G>A | CA10561402 | FLNA | c.592C>T (p.Leu198=) c.511C>T (p.Leu171=) c.550C>T (p.Leu184=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154367872G>C | CA415249095 | FLNA | c.592C>G (p.Leu198Val) c.511C>G (p.Leu171Val) c.550C>G (p.Leu184Val) | |
X | g.154367872G= | CA2466659051 | FLNA | c.592C= (p.Leu198=) c.511C= (p.Leu171=) c.550C= (p.Leu184=) | |
X | g.154367872G>T | CA415249097 | FLNA | c.592C>A (p.Leu198Met) c.511C>A (p.Leu171Met) c.550C>A (p.Leu184Met) | |
X | g.154367873G>A | CA519709925 | FLNA | c.591C>T (p.Ala197=) c.510C>T (p.Ala170=) c.549C>T (p.Ala183=) | |
X | g.154367873G>C | CA519709926 | FLNA | c.591C>G (p.Ala197=) c.510C>G (p.Ala170=) c.549C>G (p.Ala183=) | |
X | g.154367873G= | CA2466659052 | FLNA | c.591C= (p.Ala197=) c.510C= (p.Ala170=) c.549C= (p.Ala183=) | |
X | g.154367873G>T | CA337284386 | FLNA | c.591C>A (p.Ala197=) c.510C>A (p.Ala170=) c.549C>A (p.Ala183=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154367874G>A | CA415249105 | FLNA | c.590C>T (p.Ala197Val) c.509C>T (p.Ala170Val) c.548C>T (p.Ala183Val) | dbSNP |
X | g.154367874G>C | CA415249101 | FLNA | c.590C>G (p.Ala197Gly) c.509C>G (p.Ala170Gly) c.548C>G (p.Ala183Gly) | |
X | g.154367874G= | CA2466659053 | FLNA | c.590C= (p.Ala197=) c.509C= (p.Ala170=) c.548C= (p.Ala183=) | |
X | g.154367874G>T | CA415249103 | FLNA | c.590C>A (p.Ala197Asp) c.509C>A (p.Ala170Asp) c.548C>A (p.Ala183Asp) | |
X | g.154367875C>A | CA415249109 | FLNA | c.589G>T (p.Ala197Ser) c.508G>T (p.Ala170Ser) c.547G>T (p.Ala183Ser) | |
X | g.154367875C>G | CA415249111 | FLNA | c.589G>C (p.Ala197Pro) c.508G>C (p.Ala170Pro) c.547G>C (p.Ala183Pro) | |
X | g.154367875C>T | CA415249113 | FLNA | c.589G>A (p.Ala197Thr) c.508G>A (p.Ala170Thr) c.547G>A (p.Ala183Thr) | |
X | g.154367876C>A | CA519709931 | FLNA | c.588G>T (p.Arg196=) c.507G>T (p.Arg169=) c.546G>T (p.Arg182=) | |
X | g.154367876C>G | CA519709932 | FLNA | c.588G>C (p.Arg196=) c.507G>C (p.Arg169=) c.546G>C (p.Arg182=) | |
X | g.154367876C>T | CA519709933 | FLNA | c.588G>A (p.Arg196=) c.507G>A (p.Arg169=) c.546G>A (p.Arg182=) |