Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154370827C>A | CA2695083543 | FLNA | c.373+46G>T (n.373+46G>T) c.292+46G>T (n.292+46G>T) c.331+46G>T (n.331+46G>T) | gnomAD v4 |
X | g.154370827C= | CA2466660324 | FLNA | c.373+46G= (n.373+46G=) c.292+46G= (n.292+46G=) c.331+46G= (n.331+46G=) | |
X | g.154370827C>G | CA873347600 | FLNA | c.373+46G>C (n.373+46G>C) c.292+46G>C (n.292+46G>C) c.331+46G>C (n.331+46G>C) | dbSNP gnomAD v4 |
X | g.154370827C>T | CA2695083546 | FLNA | c.373+46G>A (n.373+46G>A) c.292+46G>A (n.292+46G>A) c.331+46G>A (n.331+46G>A) | dbSNP gnomAD v4 |
X | g.154370828G>A | CA2466660326 | FLNA | c.373+45C>T (n.373+45C>T) c.292+45C>T (n.292+45C>T) c.331+45C>T (n.331+45C>T) | dbSNP gnomAD v4 |
X | g.154370828G= | CA2466660325 | FLNA | c.373+45C= (n.373+45C=) c.292+45C= (n.292+45C=) c.331+45C= (n.331+45C=) | |
X | g.154370828G>T | CA2579738398 | FLNA | c.373+45C>A (n.373+45C>A) c.292+45C>A (n.292+45C>A) c.331+45C>A (n.331+45C>A) | gnomAD v4 |
X | g.154370829G>T | CA2695083550 | FLNA | c.373+44C>A (n.373+44C>A) c.292+44C>A (n.292+44C>A) c.331+44C>A (n.331+44C>A) | gnomAD v4 |
X | g.154370830A>G | CA2842613783 | FLNA | c.373+43T>C (n.373+43T>C) c.292+43T>C (n.292+43T>C) c.331+43T>C (n.331+43T>C) | |
X | g.154370831G>A | CA645171460 | FLNA | c.373+42C>T (n.373+42C>T) c.292+42C>T (n.292+42C>T) c.331+42C>T (n.331+42C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154370831G= | CA2466660327 | FLNA | c.373+42C= (n.373+42C=) c.292+42C= (n.292+42C=) c.331+42C= (n.331+42C=) | |
X | g.154370831G>T | CA2695083553 | FLNA | c.373+42C>A (n.373+42C>A) c.292+42C>A (n.292+42C>A) c.331+42C>A (n.331+42C>A) | gnomAD v4 |
X | g.154370832_154370837dup | CA2695083551 | FLNA | c.373+37_373+42dup (n.373+37_373+42dup) c.292+37_292+42dup (n.292+37_292+42dup) c.331+37_331+42dup (n.331+37_331+42dup) | gnomAD v4 |
X | g.154370832T>A | CA10561435 | FLNA | c.373+41A>T (n.373+41A>T) c.292+41A>T (n.292+41A>T) c.331+41A>T (n.331+41A>T) | dbSNP ExAC gnomAD v2 |
X | g.154370832T= | CA2466660328 | FLNA | c.373+41A= (n.373+41A=) c.292+41A= (n.292+41A=) c.331+41A= (n.331+41A=) | |
X | g.154370833C>A | CA2695083554 | FLNA | c.373+40G>T (n.373+40G>T) c.292+40G>T (n.292+40G>T) c.331+40G>T (n.331+40G>T) | gnomAD v4 |
X | g.154370833C= | CA2466660329 | FLNA | c.373+40G= (n.373+40G=) c.292+40G= (n.292+40G=) c.331+40G= (n.331+40G=) | |
X | g.154370833C>T | CA10561436 | FLNA | c.373+40G>A (n.373+40G>A) c.292+40G>A (n.292+40G>A) c.331+40G>A (n.331+40G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154370836del | CA2695083556 | FLNA | c.373+40del (n.373+40del) c.292+40del (n.292+40del) c.331+40del (n.331+40del) | gnomAD v4 |
X | g.154370833_154370843delinsCCCCGCCCCCG | CA2466660330 | FLNA | c.373+30_373+40delinsCGGGGGCGGGG (n.373+30_373+40delinsCGGGGGCGGGG) c.292+30_292+40delinsCGGGGGCGGGG (n.292+30_292+40delinsCGGGGGCGGGG) c.331+30_331+40delinsCGGGGGCGGGG (n.331+30_331+40delinsCGGGGGCGGGG) | |
X | g.154370841_154370846dup | CA645171461 | FLNA | c.373+35_373+40dup (n.373+35_373+40dup) c.292+35_292+40dup (n.292+35_292+40dup) c.331+35_331+40dup (n.331+35_331+40dup) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154370841_154370846del | CA2579738399 | FLNA | c.373+35_373+40del (n.373+35_373+40del) c.292+35_292+40del (n.292+35_292+40del) c.331+35_331+40del (n.331+35_331+40del) | gnomAD v4 |
X | g.154370834C>A | CA2842613784 | FLNA | c.373+39G>T (n.373+39G>T) c.292+39G>T (n.292+39G>T) c.331+39G>T (n.331+39G>T) | |
X | g.154370834C= | CA2466660331 | FLNA | c.373+39G= (n.373+39G=) c.292+39G= (n.292+39G=) c.331+39G= (n.331+39G=) | |
X | g.154370834C>T | CA10561437 | FLNA | c.373+39G>A (n.373+39G>A) c.292+39G>A (n.292+39G>A) c.331+39G>A (n.331+39G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154370841_154370850del | CA1138573092 | FLNA | c.373+30_373+39del (n.373+30_373+39del) c.292+30_292+39del (n.292+30_292+39del) c.331+30_331+39del (n.331+30_331+39del) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154370835C>A | CA2695083562 | FLNA | c.373+38G>T (n.373+38G>T) c.292+38G>T (n.292+38G>T) c.331+38G>T (n.331+38G>T) | gnomAD v4 |
X | g.154370835C>T | CA2842613785 | FLNA | c.373+38G>A (n.373+38G>A) c.292+38G>A (n.292+38G>A) c.331+38G>A (n.331+38G>A) | |
X | g.154370836C>A | CA1138573096 | FLNA | c.373+37G>T (n.373+37G>T) c.292+37G>T (n.292+37G>T) c.331+37G>T (n.331+37G>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154370836C= | CA2466660332 | FLNA | c.373+37G= (n.373+37G=) c.292+37G= (n.292+37G=) c.331+37G= (n.331+37G=) | |
X | g.154370836C>T | CA2695083563 | FLNA | c.373+37G>A (n.373+37G>A) c.292+37G>A (n.292+37G>A) c.331+37G>A (n.331+37G>A) | gnomAD v4 |
X | g.154370837G>A | CA10561438 | FLNA | c.373+36C>T (n.373+36C>T) c.292+36C>T (n.292+36C>T) c.331+36C>T (n.331+36C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154370837G>C | CA2579738400 | FLNA | c.373+36C>G (n.373+36C>G) c.292+36C>G (n.292+36C>G) c.331+36C>G (n.331+36C>G) | gnomAD v4 |
X | g.154370837G= | CA2466660333 | FLNA | c.373+36C= (n.373+36C=) c.292+36C= (n.292+36C=) c.331+36C= (n.331+36C=) | |
X | g.154370837G>T | CA2579738401 | FLNA | c.373+36C>A (n.373+36C>A) c.292+36C>A (n.292+36C>A) c.331+36C>A (n.331+36C>A) | gnomAD v4 |
X | g.154370837_154370839delinsGCC | CA2466660334 | FLNA | c.373+34_373+36delinsGGC (n.373+34_373+36delinsGGC) c.292+34_292+36delinsGGC (n.292+34_292+36delinsGGC) c.331+34_331+36delinsGGC (n.331+34_331+36delinsGGC) | |
X | g.154370838C>A | CA658607337 | FLNA | c.373+35G>T (n.373+35G>T) c.292+35G>T (n.292+35G>T) c.331+35G>T (n.331+35G>T) | COSMIC COSMIC |
X | g.154370842dup | CA2832581764 | FLNA | c.373+35dup (n.373+35dup) c.292+35dup (n.292+35dup) c.331+35dup (n.331+35dup) | |
X | g.154370842del | CA2842613786 | FLNA | c.373+35del (n.373+35del) c.292+35del (n.292+35del) c.331+35del (n.331+35del) | |
X | g.154370841_154370842del | CA2466660335 | FLNA | c.373+34_373+35del (n.373+34_373+35del) c.292+34_292+35del (n.292+34_292+35del) c.331+34_331+35del (n.331+34_331+35del) | dbSNP gnomAD v4 |
X | g.154370840C>A | CA2695083565 | FLNA | c.373+33G>T (n.373+33G>T) c.292+33G>T (n.292+33G>T) c.331+33G>T (n.331+33G>T) | gnomAD v4 |
X | g.154370840C>T | CA2502351845 | FLNA | c.373+33G>A (n.373+33G>A) c.292+33G>A (n.292+33G>A) c.331+33G>A (n.331+33G>A) | gnomAD v4 |
X | g.154370848_154370851del | CA2695083564 | FLNA | c.373+30_373+33del (n.373+30_373+33del) c.292+30_292+33del (n.292+30_292+33del) c.331+30_331+33del (n.331+30_331+33del) | gnomAD v4 |
X | g.154370841C>A | CA2824295701 | FLNA | c.373+32G>T (n.373+32G>T) c.292+32G>T (n.292+32G>T) c.331+32G>T (n.331+32G>T) | |
X | g.154370842C>A | CA2842613787 | FLNA | c.373+31G>T (n.373+31G>T) c.292+31G>T (n.292+31G>T) c.331+31G>T (n.331+31G>T) | |
X | g.154370842C= | CA2466660336 | FLNA | c.373+31G= (n.373+31G=) c.292+31G= (n.292+31G=) c.331+31G= (n.331+31G=) | |
X | g.154370842C>T | CA1138573098 | FLNA | c.373+31G>A (n.373+31G>A) c.292+31G>A (n.292+31G>A) c.331+31G>A (n.331+31G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154370843G>C | CA2695083566 | FLNA | c.373+30C>G (n.373+30C>G) c.292+30C>G (n.292+30C>G) c.331+30C>G (n.331+30C>G) | gnomAD v4 |
X | g.154370843G>T | CA2579738402 | FLNA | c.373+30C>A (n.373+30C>A) c.292+30C>A (n.292+30C>A) c.331+30C>A (n.331+30C>A) | gnomAD v4 |
X | g.154370844C= | CA2466660337 | FLNA | c.373+29G= (n.373+29G=) c.292+29G= (n.292+29G=) c.331+29G= (n.331+29G=) | |
X | g.154370844C>G | CA10561439 | FLNA | c.373+29G>C (n.373+29G>C) c.292+29G>C (n.292+29G>C) c.331+29G>C (n.331+29G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154370844C>T | CA2695083567 | FLNA | c.373+29G>A (n.373+29G>A) c.292+29G>A (n.292+29G>A) c.331+29G>A (n.331+29G>A) | gnomAD v4 |
X | g.154370845C>A | CA2842613788 | FLNA | c.373+28G>T (n.373+28G>T) c.292+28G>T (n.292+28G>T) c.331+28G>T (n.331+28G>T) | |
X | g.154370846C= | CA2466660338 | FLNA | c.373+27G= (n.373+27G=) c.292+27G= (n.292+27G=) c.331+27G= (n.331+27G=) | |
X | g.154370846C>T | CA10561440 | FLNA | c.373+27G>A (n.373+27G>A) c.292+27G>A (n.292+27G>A) c.331+27G>A (n.331+27G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154370847G>A | CA2695083568 | FLNA | c.373+26C>T (n.373+26C>T) c.292+26C>T (n.292+26C>T) c.331+26C>T (n.331+26C>T) | gnomAD v4 |
X | g.154370847G>C | CA2695083569 | FLNA | c.373+26C>G (n.373+26C>G) c.292+26C>G (n.292+26C>G) c.331+26C>G (n.331+26C>G) | gnomAD v4 |
X | g.154370847G>T | CA2842613789 | FLNA | c.373+26C>A (n.373+26C>A) c.292+26C>A (n.292+26C>A) c.331+26C>A (n.331+26C>A) | |
X | g.154370848C= | CA2466660339 | FLNA | c.373+25G= (n.373+25G=) c.292+25G= (n.292+25G=) c.331+25G= (n.331+25G=) | |
X | g.154370848C>T | CA10561441 | FLNA | c.373+25G>A (n.373+25G>A) c.292+25G>A (n.292+25G>A) c.331+25G>A (n.331+25G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154370850C>A | CA2695083570 | FLNA | c.373+23G>T (n.373+23G>T) c.292+23G>T (n.292+23G>T) c.331+23G>T (n.331+23G>T) | gnomAD v4 |
X | g.154370850C= | CA2466660340 | FLNA | c.373+23G= (n.373+23G=) c.292+23G= (n.292+23G=) c.331+23G= (n.331+23G=) | |
X | g.154370850C>T | CA10561442 | FLNA | c.373+23G>A (n.373+23G>A) c.292+23G>A (n.292+23G>A) c.331+23G>A (n.331+23G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154370851G>C | CA2695083571 | FLNA | c.373+22C>G (n.373+22C>G) c.292+22C>G (n.292+22C>G) c.331+22C>G (n.331+22C>G) | gnomAD v4 |
X | g.154370851G>T | CA2695083572 | FLNA | c.373+22C>A (n.373+22C>A) c.292+22C>A (n.292+22C>A) c.331+22C>A (n.331+22C>A) | gnomAD v4 |
X | g.154370852G>A | CA645171462 | FLNA | c.373+21C>T (n.373+21C>T) c.292+21C>T (n.292+21C>T) c.331+21C>T (n.331+21C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154370852G= | CA2466660341 | FLNA | c.373+21C= (n.373+21C=) c.292+21C= (n.292+21C=) c.331+21C= (n.331+21C=) | |
X | g.154370854G>A | CA2579738403 | FLNA | c.373+19C>T (n.373+19C>T) c.292+19C>T (n.292+19C>T) c.331+19C>T (n.331+19C>T) | ClinVar gnomAD v4 |
X | g.154370854G>T | CA2695083573 | FLNA | c.373+19C>A (n.373+19C>A) c.292+19C>A (n.292+19C>A) c.331+19C>A (n.331+19C>A) | gnomAD v4 |
X | g.154370856T>C | CA2466660343 | FLNA | c.373+17A>G (n.373+17A>G) c.292+17A>G (n.292+17A>G) c.331+17A>G (n.331+17A>G) | dbSNP |
X | g.154370856T>G | CA2695083574 | FLNA | c.373+17A>C (n.373+17A>C) c.292+17A>C (n.292+17A>C) c.331+17A>C (n.331+17A>C) | gnomAD v4 |
X | g.154370856T= | CA2466660342 | FLNA | c.373+17A= (n.373+17A=) c.292+17A= (n.292+17A=) c.331+17A= (n.331+17A=) | |
X | g.154370857T>G | CA2695083575 | FLNA | c.373+16A>C (n.373+16A>C) c.292+16A>C (n.292+16A>C) c.331+16A>C (n.331+16A>C) | gnomAD v4 |
X | g.154370858C>T | CA2695083576 | FLNA | c.373+15G>A (n.373+15G>A) c.292+15G>A (n.292+15G>A) c.331+15G>A (n.331+15G>A) | gnomAD v4 |
X | g.154370859G>C | CA2579738404 | FLNA | c.373+14C>G (n.373+14C>G) c.292+14C>G (n.292+14C>G) c.331+14C>G (n.331+14C>G) | |
X | g.154370859G>T | CA2695083577 | FLNA | c.373+14C>A (n.373+14C>A) c.292+14C>A (n.292+14C>A) c.331+14C>A (n.331+14C>A) | gnomAD v4 |
X | g.154370862del | CA2579738405 | FLNA | c.373+14del (n.373+14del) c.292+14del (n.292+14del) c.331+14del (n.331+14del) | |
X | g.154370861G>A | CA2839994965 | FLNA | c.373+12C>T (n.373+12C>T) c.292+12C>T (n.292+12C>T) c.331+12C>T (n.331+12C>T) | |
X | g.154370862G>A | CA337285441 | FLNA | c.373+11C>T (n.373+11C>T) c.292+11C>T (n.292+11C>T) c.331+11C>T (n.331+11C>T) | dbSNP |
X | g.154370862G= | CA2466660344 | FLNA | c.373+11C= (n.373+11C=) c.292+11C= (n.292+11C=) c.331+11C= (n.331+11C=) | |
X | g.154370862G>T | CA2579738406 | FLNA | c.373+11C>A (n.373+11C>A) c.292+11C>A (n.292+11C>A) c.331+11C>A (n.331+11C>A) | |
X | g.154370863C>A | CA10561443 | FLNA | c.373+10G>T (n.373+10G>T) c.292+10G>T (n.292+10G>T) c.331+10G>T (n.331+10G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154370863C= | CA2466660345 | FLNA | c.373+10G= (n.373+10G=) c.292+10G= (n.292+10G=) c.331+10G= (n.331+10G=) | |
X | g.154370863C>T | CA10561444 | FLNA | c.373+10G>A (n.373+10G>A) c.292+10G>A (n.292+10G>A) c.331+10G>A (n.331+10G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154370864G>T | CA2838571793 | FLNA | c.373+9C>A (n.373+9C>A) c.292+9C>A (n.292+9C>A) c.331+9C>A (n.331+9C>A) | |
X | g.154370865T= | CA2466660346 | FLNA | c.373+8A= (n.373+8A=) c.292+8A= (n.292+8A=) c.331+8A= (n.331+8A=) | |
X | g.154370866C>A | CA2842613791 | FLNA | c.373+7G>T (n.373+7G>T) c.292+7G>T (n.292+7G>T) c.331+7G>T (n.331+7G>T) | |
X | g.154370866C>T | CA2842613790 | FLNA | c.373+7G>A (n.373+7G>A) c.292+7G>A (n.292+7G>A) c.331+7G>A (n.331+7G>A) | |
X | g.154370868dup | CA873347618 | FLNA | c.373+7dup (n.373+7dup) c.292+7dup (n.292+7dup) c.331+7dup (n.331+7dup) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.154370867C>A | CA2695197148 | FLNA | c.373+6G>T (n.373+6G>T) c.292+6G>T (n.292+6G>T) c.331+6G>T (n.331+6G>T) | ClinVar |
X | g.154370868C>A | CA2824295702 | FLNA | c.373+5G>T (n.373+5G>T) c.292+5G>T (n.292+5G>T) c.331+5G>T (n.331+5G>T) | |
X | g.154370869T>A | CA2839429099 | FLNA | c.373+4A>T (n.373+4A>T) c.292+4A>T (n.292+4A>T) c.331+4A>T (n.331+4A>T) | |
X | g.154370870C>G | CA2695083579 | FLNA | c.373+3G>C (n.373+3G>C) c.292+3G>C (n.292+3G>C) c.331+3G>C (n.331+3G>C) | gnomAD v4 |
X | g.154370871A>C | CA415254075 | FLNA | c.373+2T>G (n.373+2T>G) c.292+2T>G (n.292+2T>G) c.331+2T>G (n.331+2T>G) | |
X | g.154370871A>G | CA415254074 | FLNA | c.373+2T>C (n.373+2T>C) c.292+2T>C (n.292+2T>C) c.331+2T>C (n.331+2T>C) | |
X | g.154370871A>T | CA415254076 | FLNA | c.373+2T>A (n.373+2T>A) c.292+2T>A (n.292+2T>A) c.331+2T>A (n.331+2T>A) | |
X | g.154370872C>A | CA415254081 | FLNA | c.373+1G>T (n.373+1G>T) c.292+1G>T (n.292+1G>T) c.331+1G>T (n.331+1G>T) | |
X | g.154370872C= | CA2466660347 | FLNA | c.373+1G= (n.373+1G=) c.292+1G= (n.292+1G=) c.331+1G= (n.331+1G=) | |
X | g.154370872C>G | CA415254082 | FLNA | c.373+1G>C (n.373+1G>C) c.292+1G>C (n.292+1G>C) c.331+1G>C (n.331+1G>C) | |
X | g.154370872C>T | CA278876 | FLNA | c.373+1G>A (n.373+1G>A) c.292+1G>A (n.292+1G>A) c.331+1G>A (n.331+1G>A) | ClinVar dbSNP |
X | g.154370873C>A | CA415254083 | FLNA | c.373G>T (p.Asp125Tyr) c.292G>T (p.Asp98Tyr) c.331G>T (p.Asp111Tyr) | |
X | g.154370873C>G | CA415254086 | FLNA | c.373G>C (p.Asp125His) c.292G>C (p.Asp98His) c.331G>C (p.Asp111His) | |
X | g.154370873C>T | CA415254085 | FLNA | c.373G>A (p.Asp125Asn) c.292G>A (p.Asp98Asn) c.331G>A (p.Asp111Asn) | ClinVar dbSNP |
X | g.154370874G>A | CA10561445 | FLNA | c.372C>T (p.Ile124=) c.291C>T (p.Ile97=) c.330C>T (p.Ile110=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154370874G>C | CA415254091 | FLNA | c.372C>G (p.Ile124Met) c.291C>G (p.Ile97Met) c.330C>G (p.Ile110Met) | |
X | g.154370874G= | CA2466660348 | FLNA | c.372C= (p.Ile124=) c.291C= (p.Ile97=) c.330C= (p.Ile110=) | |
X | g.154370874G>T | CA519277289 | FLNA | c.372C>A (p.Ile124=) c.291C>A (p.Ile97=) c.330C>A (p.Ile110=) | gnomAD v4 |
X | g.154370875A>C | CA415254095 | FLNA | c.371T>G (p.Ile124Ser) c.290T>G (p.Ile97Ser) c.329T>G (p.Ile110Ser) | |
X | g.154370875A>G | CA415254098 | FLNA | c.371T>C (p.Ile124Thr) c.290T>C (p.Ile97Thr) c.329T>C (p.Ile110Thr) | |
X | g.154370875A>T | CA415254102 | FLNA | c.371T>A (p.Ile124Asn) c.290T>A (p.Ile97Asn) c.329T>A (p.Ile110Asn) | |
X | g.154370876T>A | CA415254105 | FLNA | c.370A>T (p.Ile124Phe) c.289A>T (p.Ile97Phe) c.328A>T (p.Ile110Phe) | |
X | g.154370876T>C | CA415254109 | FLNA | c.370A>G (p.Ile124Val) c.289A>G (p.Ile97Val) c.328A>G (p.Ile110Val) | |
X | g.154370876T>G | CA415254110 | FLNA | c.370A>C (p.Ile124Leu) c.289A>C (p.Ile97Leu) c.328A>C (p.Ile110Leu) | |
X | g.154370877G>A | CA519277290 | FLNA | c.369C>T (p.Ser123=) c.288C>T (p.Ser96=) c.327C>T (p.Ser109=) | |
X | g.154370877G>C | CA519277291 | FLNA | c.369C>G (p.Ser123=) c.288C>G (p.Ser96=) c.327C>G (p.Ser109=) | |
X | g.154370877G>T | CA519277292 | FLNA | c.369C>A (p.Ser123=) c.288C>A (p.Ser96=) c.327C>A (p.Ser109=) | |
X | g.154370878G>A | CA415254111 | FLNA | c.368C>T (p.Ser123Phe) c.287C>T (p.Ser96Phe) c.326C>T (p.Ser109Phe) | |
X | g.154370878G>C | CA415254114 | FLNA | c.368C>G (p.Ser123Cys) c.287C>G (p.Ser96Cys) c.326C>G (p.Ser109Cys) | |
X | g.154370878G>T | CA415254117 | FLNA | c.368C>A (p.Ser123Tyr) c.287C>A (p.Ser96Tyr) c.326C>A (p.Ser109Tyr) | |
X | g.154370879A>C | CA415254120 | FLNA | c.367T>G (p.Ser123Ala) c.286T>G (p.Ser96Ala) c.325T>G (p.Ser109Ala) | |
X | g.154370879A>G | CA415254123 | FLNA | c.367T>C (p.Ser123Pro) c.286T>C (p.Ser96Pro) c.325T>C (p.Ser109Pro) | |
X | g.154370879A>T | CA415254126 | FLNA | c.367T>A (p.Ser123Thr) c.286T>A (p.Ser96Thr) c.325T>A (p.Ser109Thr) | gnomAD v4 |
X | g.154370880C>A | CA519277293 | FLNA | c.366G>T (p.Val122=) c.285G>T (p.Val95=) c.324G>T (p.Val108=) | |
X | g.154370880C>G | CA519277294 | FLNA | c.366G>C (p.Val122=) c.285G>C (p.Val95=) c.324G>C (p.Val108=) | |
X | g.154370880C>T | CA519277295 | FLNA | c.366G>A (p.Val122=) c.285G>A (p.Val95=) c.324G>A (p.Val108=) | |
X | g.154370881A>C | CA415254131 | FLNA | c.365T>G (p.Val122Gly) c.284T>G (p.Val95Gly) c.323T>G (p.Val108Gly) | |
X | g.154370881A>G | CA415254135 | FLNA | c.365T>C (p.Val122Ala) c.284T>C (p.Val95Ala) c.323T>C (p.Val108Ala) | |
X | g.154370881A>T | CA415254132 | FLNA | c.365T>A (p.Val122Glu) c.284T>A (p.Val95Glu) c.323T>A (p.Val108Glu) | |
X | g.154370882C>A | CA415254139 | FLNA | c.364G>T (p.Val122Leu) c.283G>T (p.Val95Leu) c.322G>T (p.Val108Leu) | |
X | g.154370882C>G | CA415254142 | FLNA | c.364G>C (p.Val122Leu) c.283G>C (p.Val95Leu) c.322G>C (p.Val108Leu) | |
X | g.154370882C>T | CA415254144 | FLNA | c.364G>A (p.Val122Met) c.283G>A (p.Val95Met) c.322G>A (p.Val108Met) | |
X | g.154370883C>A | CA519277297 | FLNA | c.363G>T (p.Leu121=) c.282G>T (p.Leu94=) c.321G>T (p.Leu107=) | |
X | g.154370883C= | CA2466660349 | FLNA | c.363G= (p.Leu121=) c.282G= (p.Leu94=) c.321G= (p.Leu107=) | |
X | g.154370883C>G | CA519277296 | FLNA | c.363G>C (p.Leu121=) c.282G>C (p.Leu94=) c.321G>C (p.Leu107=) | |
X | g.154370883C>T | CA10561446 | FLNA | c.363G>A (p.Leu121=) c.282G>A (p.Leu94=) c.321G>A (p.Leu107=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154370884A>C | CA415254148 | FLNA | c.362T>G (p.Leu121Arg) c.281T>G (p.Leu94Arg) c.320T>G (p.Leu107Arg) | |
X | g.154370884A>G | CA415254150 | FLNA | c.362T>C (p.Leu121Pro) c.281T>C (p.Leu94Pro) c.320T>C (p.Leu107Pro) | |
X | g.154370884A>T | CA415254153 | FLNA | c.362T>A (p.Leu121Gln) c.281T>A (p.Leu94Gln) c.320T>A (p.Leu107Gln) | |
X | g.154370885G>A | CA519277298 | FLNA | c.361C>T (p.Leu121=) c.280C>T (p.Leu94=) c.319C>T (p.Leu107=) | |
X | g.154370885G>C | CA415254156 | FLNA | c.361C>G (p.Leu121Val) c.280C>G (p.Leu94Val) c.319C>G (p.Leu107Val) | |
X | g.154370885G>T | CA415254168 | FLNA | c.361C>A (p.Leu121Met) c.280C>A (p.Leu94Met) c.319C>A (p.Leu107Met) | |
X | g.154370886T>A | CA415254172 | FLNA | c.360A>T (p.Lys120Asn) c.279A>T (p.Lys93Asn) c.318A>T (p.Lys106Asn) | |
X | g.154370886T>C | CA519277299 | FLNA | c.360A>G (p.Lys120=) c.279A>G (p.Lys93=) c.318A>G (p.Lys106=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154370886T>G | CA415254174 | FLNA | c.360A>C (p.Lys120Asn) c.279A>C (p.Lys93Asn) c.318A>C (p.Lys106Asn) | |
X | g.154370886T= | CA2466660350 | FLNA | c.360A= (p.Lys120=) c.279A= (p.Lys93=) c.318A= (p.Lys106=) | |
X | g.154370887T>A | CA415254176 | FLNA | c.359A>T (p.Lys120Ile) c.278A>T (p.Lys93Ile) c.317A>T (p.Lys106Ile) | |
X | g.154370887T>C | CA415254178 | FLNA | c.359A>G (p.Lys120Arg) c.278A>G (p.Lys93Arg) c.317A>G (p.Lys106Arg) | |
X | g.154370887T>G | CA415254180 | FLNA | c.359A>C (p.Lys120Thr) c.278A>C (p.Lys93Thr) c.317A>C (p.Lys106Thr) | |
X | g.154370888T>A | CA415254182 | FLNA | c.358A>T (p.Lys120Ter) c.277A>T (p.Lys93Ter) c.316A>T (p.Lys106Ter) | |
X | g.154370888T>C | CA415254184 | FLNA | c.358A>G (p.Lys120Glu) c.277A>G (p.Lys93Glu) c.316A>G (p.Lys106Glu) | ClinVar |
X | g.154370888T>G | CA415254186 | FLNA | c.358A>C (p.Lys120Gln) c.277A>C (p.Lys93Gln) c.316A>C (p.Lys106Gln) | |
X | g.154370889G>A | CA519277300 | FLNA | c.357C>T (p.Ile119=) c.276C>T (p.Ile92=) c.315C>T (p.Ile105=) | gnomAD v4 |
X | g.154370889G>C | CA415254188 | FLNA | c.357C>G (p.Ile119Met) c.276C>G (p.Ile92Met) c.315C>G (p.Ile105Met) | |
X | g.154370889G>T | CA519277301 | FLNA | c.357C>A (p.Ile119=) c.276C>A (p.Ile92=) c.315C>A (p.Ile105=) | |
X | g.154370890A>C | CA415254191 | FLNA | c.356T>G (p.Ile119Ser) c.275T>G (p.Ile92Ser) c.314T>G (p.Ile105Ser) | |
X | g.154370890A>G | CA415254193 | FLNA | c.356T>C (p.Ile119Thr) c.275T>C (p.Ile92Thr) c.314T>C (p.Ile105Thr) | |
X | g.154370890A>T | CA415254195 | FLNA | c.356T>A (p.Ile119Asn) c.275T>A (p.Ile92Asn) c.314T>A (p.Ile105Asn) | |
X | g.154370891T>A | CA415254202 | FLNA | c.355A>T (p.Ile119Phe) c.274A>T (p.Ile92Phe) c.313A>T (p.Ile105Phe) | |
X | g.154370891T>C | CA415254200 | FLNA | c.355A>G (p.Ile119Val) c.274A>G (p.Ile92Val) c.313A>G (p.Ile105Val) | |
X | g.154370891T>G | CA415254198 | FLNA | c.355A>C (p.Ile119Leu) c.274A>C (p.Ile92Leu) c.313A>C (p.Ile105Leu) | |
X | g.154370892G>A | CA519277302 | FLNA | c.354C>T (p.Ser118=) c.273C>T (p.Ser91=) c.312C>T (p.Ser104=) | dbSNP gnomAD v4 |
X | g.154370892G>C | CA415254205 | FLNA | c.354C>G (p.Ser118Arg) c.273C>G (p.Ser91Arg) c.312C>G (p.Ser104Arg) | |
X | g.154370892G= | CA2466660351 | FLNA | c.354C= (p.Ser118=) c.273C= (p.Ser91=) c.312C= (p.Ser104=) | |
X | g.154370892G>T | CA415254210 | FLNA | c.354C>A (p.Ser118Arg) c.273C>A (p.Ser91Arg) c.312C>A (p.Ser104Arg) | |
X | g.154370893C>A | CA415254211 | FLNA | c.353G>T (p.Ser118Ile) c.272G>T (p.Ser91Ile) c.311G>T (p.Ser104Ile) | |
X | g.154370893C= | CA2466660352 | FLNA | c.353G= (p.Ser118=) c.272G= (p.Ser91=) c.311G= (p.Ser104=) | |
X | g.154370893C>G | CA415254213 | FLNA | c.353G>C (p.Ser118Thr) c.272G>C (p.Ser91Thr) c.311G>C (p.Ser104Thr) | |
X | g.154370893C>T | CA415254216 | FLNA | c.353G>A (p.Ser118Asn) c.272G>A (p.Ser91Asn) c.311G>A (p.Ser104Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.154370894T>A | CA415254218 | FLNA | c.352A>T (p.Ser118Cys) c.271A>T (p.Ser91Cys) c.310A>T (p.Ser104Cys) | |
X | g.154370894T>C | CA415254221 | FLNA | c.352A>G (p.Ser118Gly) c.271A>G (p.Ser91Gly) c.310A>G (p.Ser104Gly) | |
X | g.154370894T>G | CA415254223 | FLNA | c.352A>C (p.Ser118Arg) c.271A>C (p.Ser91Arg) c.310A>C (p.Ser104Arg) | |
X | g.154370895C>A | CA415254226 | FLNA | c.351G>T (p.Glu117Asp) c.270G>T (p.Glu90Asp) c.309G>T (p.Glu103Asp) | |
X | g.154370895C>G | CA415254228 | FLNA | c.351G>C (p.Glu117Asp) c.270G>C (p.Glu90Asp) c.309G>C (p.Glu103Asp) | |
X | g.154370895C>T | CA519277303 | FLNA | c.351G>A (p.Glu117=) c.270G>A (p.Glu90=) c.309G>A (p.Glu103=) | |
X | g.154370896T>A | CA415254235 | FLNA | c.350A>T (p.Glu117Val) c.269A>T (p.Glu90Val) c.308A>T (p.Glu103Val) | |
X | g.154370896T>C | CA415254233 | FLNA | c.350A>G (p.Glu117Gly) c.269A>G (p.Glu90Gly) c.308A>G (p.Glu103Gly) | |
X | g.154370896T>G | CA415254231 | FLNA | c.350A>C (p.Glu117Ala) c.269A>C (p.Glu90Ala) c.308A>C (p.Glu103Ala) | |
X | g.154370897C>A | CA415254238 | FLNA | c.349G>T (p.Glu117Ter) c.268G>T (p.Glu90Ter) c.307G>T (p.Glu103Ter) | |
X | g.154370897C>G | CA415254240 | FLNA | c.349G>C (p.Glu117Gln) c.268G>C (p.Glu90Gln) c.307G>C (p.Glu103Gln) | |
X | g.154370897C>T | CA415254243 | FLNA | c.349G>A (p.Glu117Lys) c.268G>A (p.Glu90Lys) c.307G>A (p.Glu103Lys) | gnomAD v4 |
X | g.154370898G>A | CA519277304 | FLNA | c.348C>T (p.Arg116=) c.267C>T (p.Arg89=) c.306C>T (p.Arg102=) | |
X | g.154370898G>C | CA519277305 | FLNA | c.348C>G (p.Arg116=) c.267C>G (p.Arg89=) c.306C>G (p.Arg102=) | |
X | g.154370898G>T | CA519277306 | FLNA | c.348C>A (p.Arg116=) c.267C>A (p.Arg89=) c.306C>A (p.Arg102=) | |
X | g.154370899C>A | CA415254246 | FLNA | c.347G>T (p.Arg116Leu) c.266G>T (p.Arg89Leu) c.305G>T (p.Arg102Leu) | ClinVar gnomAD v4 |
X | g.154370899C>G | CA415254247 | FLNA | c.347G>C (p.Arg116Pro) c.266G>C (p.Arg89Pro) c.305G>C (p.Arg102Pro) | |
X | g.154370899C>T | CA415254250 | FLNA | c.347G>A (p.Arg116His) c.266G>A (p.Arg89His) c.305G>A (p.Arg102His) | |
X | g.154370900G>A | CA10561447 | FLNA | c.346C>T (p.Arg116Cys) c.265C>T (p.Arg89Cys) c.304C>T (p.Arg102Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154370900G>C | CA415254254 | FLNA | c.346C>G (p.Arg116Gly) c.265C>G (p.Arg89Gly) c.304C>G (p.Arg102Gly) | |
X | g.154370900G= | CA2466660353 | FLNA | c.346C= (p.Arg116=) c.265C= (p.Arg89=) c.304C= (p.Arg102=) | |
X | g.154370900G>T | CA415254256 | FLNA | c.346C>A (p.Arg116Ser) c.265C>A (p.Arg89Ser) c.304C>A (p.Arg102Ser) | |
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.154370907del | CA2843744809 | FLNA | c.340del (p.Leu114TrpfsTer21) c.259del (p.Leu87TrpfsTer21) c.298del (p.Leu100TrpfsTer21) | |
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) | |
X | g.154370916C>A | CA519277316 | FLNA | c.330G>T (p.Ala110=) c.249G>T (p.Ala83=) c.288G>T (p.Ala96=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154370916C= | CA2466660357 | FLNA | c.330G= (p.Ala110=) c.249G= (p.Ala83=) c.288G= (p.Ala96=) | |
X | g.154370916C>G | CA519277317 | FLNA | c.330G>C (p.Ala110=) c.249G>C (p.Ala83=) c.288G>C (p.Ala96=) | |
X | g.154370916C>T | CA519277318 | FLNA | c.330G>A (p.Ala110=) c.249G>A (p.Ala83=) c.288G>A (p.Ala96=) | |
X | g.154370917G>A | CA10561449 | FLNA | c.329C>T (p.Ala110Val) c.248C>T (p.Ala83Val) c.287C>T (p.Ala96Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154370917G>C | CA415254333 | FLNA | c.329C>G (p.Ala110Gly) c.248C>G (p.Ala83Gly) c.287C>G (p.Ala96Gly) | |
X | g.154370917G= | CA2466660358 | FLNA | c.329C= (p.Ala110=) c.248C= (p.Ala83=) c.287C= (p.Ala96=) | |
X | g.154370917G>T | CA415254336 | FLNA | c.329C>A (p.Ala110Glu) c.248C>A (p.Ala83Glu) c.287C>A (p.Ala96Glu) | |
X | g.154370918C>A | CA415254339 | FLNA | c.328G>T (p.Ala110Ser) c.247G>T (p.Ala83Ser) c.286G>T (p.Ala96Ser) | |
X | g.154370918C>G | CA415254341 | FLNA | c.328G>C (p.Ala110Pro) c.247G>C (p.Ala83Pro) c.286G>C (p.Ala96Pro) | |
X | g.154370918C>T | CA415254343 | FLNA | c.328G>A (p.Ala110Thr) c.247G>A (p.Ala83Thr) c.286G>A (p.Ala96Thr) | |
X | g.154370919C>A | CA519277319 | FLNA | c.327G>T (p.Val109=) c.246G>T (p.Val82=) c.285G>T (p.Val95=) | |
X | g.154370919C= | CA2466660359 | FLNA | c.327G= (p.Val109=) c.246G= (p.Val82=) c.285G= (p.Val95=) | |
X | g.154370919C>G | CA519277320 | FLNA | c.327G>C (p.Val109=) c.246G>C (p.Val82=) c.285G>C (p.Val95=) | |
X | g.154370919C>T | CA337285451 | FLNA | c.327G>A (p.Val109=) c.246G>A (p.Val82=) c.285G>A (p.Val95=) | dbSNP |
X | g.154370920A>C | CA415254345 | FLNA | c.326T>G (p.Val109Gly) c.245T>G (p.Val82Gly) c.284T>G (p.Val95Gly) | |
X | g.154370920A>G | CA415254347 | FLNA | c.326T>C (p.Val109Ala) c.245T>C (p.Val82Ala) c.284T>C (p.Val95Ala) | |
X | g.154370920A>T | CA415254349 | FLNA | c.326T>A (p.Val109Glu) c.245T>A (p.Val82Glu) c.284T>A (p.Val95Glu) | |
X | g.154370921C>A | CA415254354 | FLNA | c.325G>T (p.Val109Leu) c.244G>T (p.Val82Leu) c.283G>T (p.Val95Leu) | |
X | g.154370921C>G | CA415254356 | FLNA | c.325G>C (p.Val109Leu) c.244G>C (p.Val82Leu) c.283G>C (p.Val95Leu) | |
X | g.154370921C>T | CA415254352 | FLNA | c.325G>A (p.Val109Met) c.244G>A (p.Val82Met) c.283G>A (p.Val95Met) | |
X | g.154370922C>A | CA519277321 | FLNA | c.324G>T (p.Ser108=) c.243G>T (p.Ser81=) c.282G>T (p.Ser94=) | |
X | g.154370922C>G | CA519277322 | FLNA | c.324G>C (p.Ser108=) c.243G>C (p.Ser81=) c.282G>C (p.Ser94=) | |
X | g.154370922C>T | CA519277323 | FLNA | c.324G>A (p.Ser108=) c.243G>A (p.Ser81=) c.282G>A (p.Ser94=) | |
X | g.154370923G>A | CA415254362 | FLNA | c.323C>T (p.Ser108Leu) c.242C>T (p.Ser81Leu) c.281C>T (p.Ser94Leu) | ClinVar |
X | g.154370923G>C | CA415254359 | FLNA | c.323C>G (p.Ser108Trp) c.242C>G (p.Ser81Trp) c.281C>G (p.Ser94Trp) | |
X | g.154370923G>T | CA415254364 | FLNA | c.323C>A (p.Ser108Ter) c.242C>A (p.Ser81Ter) c.281C>A (p.Ser94Ter) | |
X | g.154370924A>C | CA415254367 | FLNA | c.322T>G (p.Ser108Ala) c.241T>G (p.Ser81Ala) c.280T>G (p.Ser94Ala) | |
X | g.154370924A>G | CA415254369 | FLNA | c.322T>C (p.Ser108Pro) c.241T>C (p.Ser81Pro) c.280T>C (p.Ser94Pro) | |
X | g.154370924A>T | CA415254371 | FLNA | c.322T>A (p.Ser108Thr) c.241T>A (p.Ser81Thr) c.280T>A (p.Ser94Thr) | |
X | g.154370925C>A | CA519277324 | FLNA | c.321G>T (p.Val107=) c.240G>T (p.Val80=) c.279G>T (p.Val93=) | |
X | g.154370925C>G | CA519277326 | FLNA | c.321G>C (p.Val107=) c.240G>C (p.Val80=) c.279G>C (p.Val93=) | |
X | g.154370925C>T | CA519277325 | FLNA | c.321G>A (p.Val107=) c.240G>A (p.Val80=) c.279G>A (p.Val93=) | ClinVar dbSNP |
X | g.154370926A>C | CA415254375 | FLNA | c.320T>G (p.Val107Gly) c.239T>G (p.Val80Gly) c.278T>G (p.Val93Gly) | |
X | g.154370926A>G | CA415254377 | FLNA | c.320T>C (p.Val107Ala) c.239T>C (p.Val80Ala) c.278T>C (p.Val93Ala) | |
X | g.154370926A>T | CA415254378 | FLNA | c.320T>A (p.Val107Glu) c.239T>A (p.Val80Glu) c.278T>A (p.Val93Glu) | |
X | g.154370927C>A | CA415254382 | FLNA | c.319G>T (p.Val107Leu) c.238G>T (p.Val80Leu) c.277G>T (p.Val93Leu) | |
X | g.154370927C>G | CA415254384 | FLNA | c.319G>C (p.Val107Leu) c.238G>C (p.Val80Leu) c.277G>C (p.Val93Leu) | |
X | g.154370927C>T | CA415254386 | FLNA | c.319G>A (p.Val107Met) c.238G>A (p.Val80Met) c.277G>A (p.Val93Met) | ClinVar dbSNP |