Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154371136_154371138del | CA916082509 | FLNA | c.111_113del (p.Glu37del) c.30_32del (p.Glu10del) c.69_71del (p.Glu23del) | ClinVar dbSNP |
X | g.154371137C>A | CA415255538 | FLNA | c.109G>T (p.Glu37Ter) c.28G>T (p.Glu10Ter) c.67G>T (p.Glu23Ter) | gnomAD v4 |
X | g.154371137C>G | CA415255540 | FLNA | c.109G>C (p.Glu37Gln) c.28G>C (p.Glu10Gln) c.67G>C (p.Glu23Gln) | |
X | g.154371137C>T | CA415255542 | FLNA | c.109G>A (p.Glu37Lys) c.28G>A (p.Glu10Lys) c.67G>A (p.Glu23Lys) | |
X | g.154371138C>A | CA519277578 | FLNA | c.108G>T (p.Ala36=) c.27G>T (p.Ala9=) c.66G>T (p.Ala22=) | |
X | g.154371138C= | CA2466660409 | FLNA | c.108G= (p.Ala36=) c.27G= (p.Ala9=) c.66G= (p.Ala22=) | |
X | g.154371138C>G | CA519277577 | FLNA | c.108G>C (p.Ala36=) c.27G>C (p.Ala9=) c.66G>C (p.Ala22=) | gnomAD v4 |
X | g.154371138C>T | CA10561461 | FLNA | c.108G>A (p.Ala36=) c.27G>A (p.Ala9=) c.66G>A (p.Ala22=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154371139G>A | CA415255547 | FLNA | c.107C>T (p.Ala36Val) c.26C>T (p.Ala9Val) c.65C>T (p.Ala22Val) | gnomAD v4 |
X | g.154371139G>C | CA415255548 | FLNA | c.107C>G (p.Ala36Gly) c.26C>G (p.Ala9Gly) c.65C>G (p.Ala22Gly) | |
X | g.154371139G>T | CA415255550 | FLNA | c.107C>A (p.Ala36Glu) c.26C>A (p.Ala9Glu) c.65C>A (p.Ala22Glu) | |
X | g.154371140C>A | CA415255553 | FLNA | c.106G>T (p.Ala36Ser) c.25G>T (p.Ala9Ser) c.64G>T (p.Ala22Ser) | gnomAD v4 |
X | g.154371140C>G | CA415255556 | FLNA | c.106G>C (p.Ala36Pro) c.25G>C (p.Ala9Pro) c.64G>C (p.Ala22Pro) | |
X | g.154371140C>T | CA415255554 | FLNA | c.106G>A (p.Ala36Thr) c.25G>A (p.Ala9Thr) c.64G>A (p.Ala22Thr) | |
X | g.154371141C>A | CA519277579 | FLNA | c.105G>T (p.Leu35=) c.24G>T (p.Leu8=) c.63G>T (p.Leu21=) | |
X | g.154371141C>G | CA519277580 | FLNA | c.105G>C (p.Leu35=) c.24G>C (p.Leu8=) c.63G>C (p.Leu21=) | |
X | g.154371141C>T | CA519277581 | FLNA | c.105G>A (p.Leu35=) c.24G>A (p.Leu8=) c.63G>A (p.Leu21=) | |
X | g.154371142A>C | CA415255559 | FLNA | c.104T>G (p.Leu35Arg) c.23T>G (p.Leu8Arg) c.62T>G (p.Leu21Arg) | |
X | g.154371142A>G | CA415255563 | FLNA | c.104T>C (p.Leu35Pro) c.23T>C (p.Leu8Pro) c.62T>C (p.Leu21Pro) | |
X | g.154371142A>T | CA415255561 | FLNA | c.104T>A (p.Leu35Gln) c.23T>A (p.Leu8Gln) c.62T>A (p.Leu21Gln) | |
X | g.154371143G>A | CA519277582 | FLNA | c.103C>T (p.Leu35=) c.22C>T (p.Leu8=) c.61C>T (p.Leu21=) | |
X | g.154371143G>C | CA415255564 | FLNA | c.103C>G (p.Leu35Val) c.22C>G (p.Leu8Val) c.61C>G (p.Leu21Val) | |
X | g.154371143G>T | CA415255565 | FLNA | c.103C>A (p.Leu35Met) c.22C>A (p.Leu8Met) c.61C>A (p.Leu21Met) | |
X | g.154371144G>A | CA519277583 | FLNA | c.102C>T (p.Asp34=) c.21C>T (p.Asp7=) c.60C>T (p.Asp20=) | ClinVar dbSNP gnomAD v4 |
X | g.154371144G>C | CA415255568 | FLNA | c.102C>G (p.Asp34Glu) c.21C>G (p.Asp7Glu) c.60C>G (p.Asp20Glu) | |
X | g.154371144G>T | CA415255570 | FLNA | c.102C>A (p.Asp34Glu) c.21C>A (p.Asp7Glu) c.60C>A (p.Asp20Glu) | |
X | g.154371145T>A | CA415255573 | FLNA | c.101A>T (p.Asp34Val) c.20A>T (p.Asp7Val) c.59A>T (p.Asp20Val) | |
X | g.154371145T>C | CA415255575 | FLNA | c.101A>G (p.Asp34Gly) c.20A>G (p.Asp7Gly) c.59A>G (p.Asp20Gly) | |
X | g.154371145T>G | CA415255576 | FLNA | c.101A>C (p.Asp34Ala) c.20A>C (p.Asp7Ala) c.59A>C (p.Asp20Ala) | |
X | g.154371146C>A | CA415255579 | FLNA | c.100G>T (p.Asp34Tyr) c.19G>T (p.Asp7Tyr) c.58G>T (p.Asp20Tyr) | |
X | g.154371146C>G | CA415255580 | FLNA | c.100G>C (p.Asp34His) c.19G>C (p.Asp7His) c.58G>C (p.Asp20His) | |
X | g.154371146C>T | CA415255581 | FLNA | c.100G>A (p.Asp34Asn) c.19G>A (p.Asp7Asn) c.58G>A (p.Asp20Asn) | |
X | g.154371147C>A | CA415255584 | FLNA | c.99G>T (p.Lys33Asn) c.18G>T (p.Lys6Asn) c.57G>T (p.Lys19Asn) | |
X | g.154371147C= | CA2466660410 | FLNA | c.99G= (p.Lys33=) c.18G= (p.Lys6=) c.57G= (p.Lys19=) | |
X | g.154371147C>G | CA415255585 | FLNA | c.99G>C (p.Lys33Asn) c.18G>C (p.Lys6Asn) c.57G>C (p.Lys19Asn) | |
X | g.154371147C>T | CA519277584 | FLNA | c.99G>A (p.Lys33=) c.18G>A (p.Lys6=) c.57G>A (p.Lys19=) | dbSNP gnomAD v4 |
X | g.154371148T>A | CA415255588 | FLNA | c.98A>T (p.Lys33Met) c.17A>T (p.Lys6Met) c.56A>T (p.Lys19Met) | |
X | g.154371148T>C | CA415255592 | FLNA | c.98A>G (p.Lys33Arg) c.17A>G (p.Lys6Arg) c.56A>G (p.Lys19Arg) | |
X | g.154371148T>G | CA415255590 | FLNA | c.98A>C (p.Lys33Thr) c.17A>C (p.Lys6Thr) c.56A>C (p.Lys19Thr) | |
X | g.154371149T>A | CA415255594 | FLNA | c.97A>T (p.Lys33Ter) c.16A>T (p.Lys6Ter) c.55A>T (p.Lys19Ter) | |
X | g.154371149T>C | CA415255595 | FLNA | c.97A>G (p.Lys33Glu) c.16A>G (p.Lys6Glu) c.55A>G (p.Lys19Glu) | |
X | g.154371149T>G | CA415255596 | FLNA | c.97A>C (p.Lys33Gln) c.16A>C (p.Lys6Gln) c.55A>C (p.Lys19Gln) | |
X | g.154371150C>A | CA415255599 | FLNA | c.96G>T (p.Glu32Asp) c.15G>T (p.Glu5Asp) c.54G>T (p.Glu18Asp) | |
X | g.154371150C= | CA2466660411 | FLNA | c.96G= (p.Glu32=) c.15G= (p.Glu5=) c.54G= (p.Glu18=) | |
X | g.154371150C>G | CA415255601 | FLNA | c.96G>C (p.Glu32Asp) c.15G>C (p.Glu5Asp) c.54G>C (p.Glu18Asp) | |
X | g.154371150C>T | CA519277585 | FLNA | c.96G>A (p.Glu32=) c.15G>A (p.Glu5=) c.54G>A (p.Glu18=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154371151T>A | CA415255604 | FLNA | c.95A>T (p.Glu32Val) c.14A>T (p.Glu5Val) c.53A>T (p.Glu18Val) | |
X | g.154371151T>C | CA415255605 | FLNA | c.95A>G (p.Glu32Gly) c.14A>G (p.Glu5Gly) c.53A>G (p.Glu18Gly) | ClinVar dbSNP |
X | g.154371151T>G | CA415255607 | FLNA | c.95A>C (p.Glu32Ala) c.14A>C (p.Glu5Ala) c.53A>C (p.Glu18Ala) | |
X | g.154371151T= | CA2466660412 | FLNA | c.95A= (p.Glu32=) c.14A= (p.Glu5=) c.53A= (p.Glu18=) | |
X | g.154371152C>A | CA415255614 | FLNA | c.94G>T (p.Glu32Ter) c.13G>T (p.Glu5Ter) c.52G>T (p.Glu18Ter) | |
X | g.154371152C= | CA2466660413 | FLNA | c.94G= (p.Glu32=) c.13G= (p.Glu5=) c.52G= (p.Glu18=) | |
X | g.154371152C>G | CA415255612 | FLNA | c.94G>C (p.Glu32Gln) c.13G>C (p.Glu5Gln) c.52G>C (p.Glu18Gln) | |
X | g.154371152C>T | CA415255610 | FLNA | c.94G>A (p.Glu32Lys) c.13G>A (p.Glu5Lys) c.52G>A (p.Glu18Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.154371153G>A | CA519277588 | FLNA | c.93C>T (p.Thr31=) c.12C>T (p.Thr4=) c.51C>T (p.Thr17=) | ClinVar dbSNP gnomAD v4 |
X | g.154371153G>C | CA519277587 | FLNA | c.93C>G (p.Thr31=) c.12C>G (p.Thr4=) c.51C>G (p.Thr17=) | |
X | g.154371153G= | CA2466660414 | FLNA | c.93C= (p.Thr31=) c.12C= (p.Thr4=) c.51C= (p.Thr17=) | |
X | g.154371153G>T | CA519277586 | FLNA | c.93C>A (p.Thr31=) c.12C>A (p.Thr4=) c.51C>A (p.Thr17=) | gnomAD v4 |
X | g.154371154G>A | CA415255616 | FLNA | c.92C>T (p.Thr31Ile) c.11C>T (p.Thr4Ile) c.50C>T (p.Thr17Ile) | |
X | g.154371154G>C | CA415255618 | FLNA | c.92C>G (p.Thr31Ser) c.11C>G (p.Thr4Ser) c.50C>G (p.Thr17Ser) | |
X | g.154371154G>T | CA415255620 | FLNA | c.92C>A (p.Thr31Asn) c.11C>A (p.Thr4Asn) c.50C>A (p.Thr17Asn) | |
X | g.154371155T>A | CA415255622 | FLNA | c.91A>T (p.Thr31Ser) c.10A>T (p.Thr4Ser) c.49A>T (p.Thr17Ser) | |
X | g.154371155T>C | CA415255623 | FLNA | c.91A>G (p.Thr31Ala) c.10A>G (p.Thr4Ala) c.49A>G (p.Thr17Ala) | |
X | g.154371155T>G | CA415255624 | FLNA | c.91A>C (p.Thr31Pro) c.10A>C (p.Thr4Pro) c.49A>C (p.Thr17Pro) | |
X | g.154371156G>A | CA10561462 | FLNA | c.90C>T (p.Ala30=) c.9C>T (p.Ala3=) c.48C>T (p.Ala16=) | ClinVar dbSNP ExAC gnomAD v4 |
X | g.154371156G>C | CA519277589 | FLNA | c.90C>G (p.Ala30=) c.9C>G (p.Ala3=) c.48C>G (p.Ala16=) | |
X | g.154371156G= | CA2466660415 | FLNA | c.90C= (p.Ala30=) c.9C= (p.Ala3=) c.48C= (p.Ala16=) | |
X | g.154371156G>T | CA519277590 | FLNA | c.90C>A (p.Ala30=) c.9C>A (p.Ala3=) c.48C>A (p.Ala16=) | gnomAD v4 |
X | g.154371157G>A | CA415255625 | FLNA | c.89C>T (p.Ala30Val) c.8C>T (p.Ala3Val) c.47C>T (p.Ala16Val) | gnomAD v4 |
X | g.154371157G>C | CA415255626 | FLNA | c.89C>G (p.Ala30Gly) c.8C>G (p.Ala3Gly) c.47C>G (p.Ala16Gly) | |
X | g.154371157G>T | CA415255627 | FLNA | c.89C>A (p.Ala30Asp) c.8C>A (p.Ala3Asp) c.47C>A (p.Ala16Asp) | gnomAD v4 |
X | g.154371158C>A | CA415255630 | FLNA | c.88G>T (p.Ala30Ser) c.7G>T (p.Ala3Ser) c.46G>T (p.Ala16Ser) | |
X | g.154371158C>G | CA415255629 | FLNA | c.88G>C (p.Ala30Pro) c.7G>C (p.Ala3Pro) c.46G>C (p.Ala16Pro) | |
X | g.154371158C>T | CA415255628 | FLNA | c.88G>A (p.Ala30Thr) c.7G>A (p.Ala3Thr) c.46G>A (p.Ala16Thr) | gnomAD v4 |
X | g.154371159del | CA2695236986 | FLNA | c.88del (p.Ala30ProfsTer28) c.7del (p.Ala3ProfsTer28) c.46del (p.Ala16ProfsTer28) | |
X | g.154371158_154371165del | CA1138573147 | FLNA | c.81_88del (p.Glu27AspfsTer?) c.-1_7del c.39_46del (p.Glu13AspfsTer?) | gnomAD v3 gnomAD v4 |
X | g.154371159C>A | CA519277591 | FLNA | c.87G>T (p.Pro29=) c.6G>T (p.Pro2=) c.45G>T (p.Pro15=) | |
X | g.154371159C= | CA2466660416 | FLNA | c.87G= (p.Pro29=) c.6G= (p.Pro2=) c.45G= (p.Pro15=) | |
X | g.154371159C>G | CA519277592 | FLNA | c.87G>C (p.Pro29=) c.6G>C (p.Pro2=) c.45G>C (p.Pro15=) | gnomAD v4 |
X | g.154371159C>T | CA519277593 | FLNA | c.87G>A (p.Pro29=) c.6G>A (p.Pro2=) c.45G>A (p.Pro15=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154371160G>A | CA415255631 | FLNA | c.86C>T (p.Pro29Leu) c.5C>T (p.Pro2Leu) c.44C>T (p.Pro15Leu) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154371160G>C | CA415255632 | FLNA | c.86C>G (p.Pro29Arg) c.5C>G (p.Pro2Arg) c.44C>G (p.Pro15Arg) | |
X | g.154371160G>T | CA415255633 | FLNA | c.86C>A (p.Pro29Gln) c.5C>A (p.Pro2Gln) c.44C>A (p.Pro15Gln) | gnomAD v4 |
X | g.154371161G>A | CA415255634 | FLNA | c.85C>T (p.Pro29Ser) c.4C>T (p.Pro2Ser) c.43C>T (p.Pro15Ser) | gnomAD v4 |
X | g.154371161G>C | CA415255635 | FLNA | c.85C>G (p.Pro29Ala) c.4C>G (p.Pro2Ala) c.43C>G (p.Pro15Ala) | |
X | g.154371161G>T | CA415255637 | FLNA | c.85C>A (p.Pro29Thr) c.4C>A (p.Pro2Thr) c.43C>A (p.Pro15Thr) | |
X | g.154371162C>A | CA415255638 | FLNA | c.84G>T (p.Met28Ile) c.3G>T (p.Met1Ile) c.42G>T (p.Met14Ile) | gnomAD v4 |
X | g.154371162C= | CA2466660417 | FLNA | c.84G= (p.Met28=) c.3G= (p.Met1=) c.42G= (p.Met14=) | |
X | g.154371162C>G | CA415255639 | FLNA | c.84G>C (p.Met28Ile) c.3G>C (p.Met1Ile) c.42G>C (p.Met14Ile) | ClinVar dbSNP |
X | g.154371162C>T | CA415255640 | FLNA | c.84G>A (p.Met28Ile) c.3G>A (p.Met1Ile) c.42G>A (p.Met14Ile) | COSMIC COSMIC |
X | g.154371163A>C | CA415255641 | FLNA | c.83T>G (p.Met28Arg) c.2T>G (p.Met1Arg) c.41T>G (p.Met14Arg) | |
X | g.154371163A>G | CA415255642 | FLNA | c.83T>C (p.Met28Thr) c.2T>C (p.Met1Thr) c.41T>C (p.Met14Thr) | gnomAD v4 |
X | g.154371163A>T | CA415255643 | FLNA | c.83T>A (p.Met28Lys) c.2T>A (p.Met1Lys) c.41T>A (p.Met14Lys) | |
X | g.154371164T>A | CA415255647 | FLNA | c.82A>T (p.Met28Leu) c.1A>T (p.Met1Leu) c.40A>T (p.Met14Leu) | |
X | g.154371164T>C | CA415255649 | FLNA | c.82A>G (p.Met28Val) c.1A>G (p.Met1Val) c.40A>G (p.Met14Val) | ClinVar dbSNP |
X | g.154371164T>G | CA415255646 | FLNA | c.82A>C (p.Met28Leu) c.1A>C (p.Met1Leu) c.40A>C (p.Met14Leu) | |
X | g.154371164T= | CA2466660418 | FLNA | c.82A= (p.Met28=) c.1A= (p.Met1=) c.40A= (p.Met14=) | |
X | g.154371165del | CA2695236987 | FLNA | c.81del (p.Met28CysfsTer?) c.-1del (n.-1del) c.39del (p.Met14CysfsTer?) | |
X | g.154371165C>A | CA415255653 | FLNA | c.81G>T (p.Glu27Asp) c.-1G>T (n.-1G>T) c.39G>T (p.Glu13Asp) | |
X | g.154371165C>G | CA415255652 | FLNA | c.81G>C (p.Glu27Asp) c.-1G>C (n.-1G>C) c.39G>C (p.Glu13Asp) | ClinVar |
X | g.154371165C>T | CA519277594 | FLNA | c.81G>A (p.Glu27=) c.-1G>A (n.-1G>A) c.39G>A (p.Glu13=) | |
X | g.154371166T>A | CA415255656 | FLNA | c.80A>T (p.Glu27Val) c.-2A>T (n.-2A>T) c.38A>T (p.Glu13Val) | |
X | g.154371166T>C | CA415255658 | FLNA | c.80A>G (p.Glu27Gly) c.-2A>G (n.-2A>G) c.38A>G (p.Glu13Gly) | gnomAD v4 |
X | g.154371166T>G | CA415255660 | FLNA | c.80A>C (p.Glu27Ala) c.-2A>C (n.-2A>C) c.38A>C (p.Glu13Ala) | |
X | g.154371167C>A | CA415255663 | FLNA | c.79G>T (p.Glu27Ter) c.-3G>T (n.-3G>T) c.37G>T (p.Glu13Ter) | ClinVar |
X | g.154371167C>G | CA415255665 | FLNA | c.79G>C (p.Glu27Gln) c.-3G>C (n.-3G>C) c.37G>C (p.Glu13Gln) | |
X | g.154371167C>T | CA415255666 | FLNA | c.79G>A (p.Glu27Lys) c.-3G>A (n.-3G>A) c.37G>A (p.Glu13Lys) | ClinVar gnomAD v4 |
X | g.154371168G>A | CA10561463 | FLNA | c.78C>T (p.Ala26=) c.-4C>T (n.-4C>T) c.36C>T (p.Ala12=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154371168G>C | CA519277595 | FLNA | c.78C>G (p.Ala26=) c.-4C>G (n.-4C>G) c.36C>G (p.Ala12=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154371168G= | CA2466660419 | FLNA | c.78C= (p.Ala26=) c.-4C= (n.-4C=) c.36C= (p.Ala12=) | |
X | g.154371168G>T | CA519277596 | FLNA | c.78C>A (p.Ala26=) c.-4C>A (n.-4C>A) c.36C>A (p.Ala12=) | gnomAD v4 |
X | g.154371169G>A | CA10561464 | FLNA | c.77C>T (p.Ala26Val) c.-5C>T (n.-5C>T) c.35C>T (p.Ala12Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154371169G>C | CA415255670 | FLNA | c.77C>G (p.Ala26Gly) c.-5C>G (n.-5C>G) c.35C>G (p.Ala12Gly) | |
X | g.154371169G= | CA2466660420 | FLNA | c.77C= (p.Ala26=) c.-5C= (n.-5C=) c.35C= (p.Ala12=) | |
X | g.154371169G>T | CA415255671 | FLNA | c.77C>A (p.Ala26Asp) c.-5C>A (n.-5C>A) c.35C>A (p.Ala12Asp) | |
X | g.154371170C>A | CA415255674 | FLNA | c.76G>T (p.Ala26Ser) c.-6G>T (n.-6G>T) c.34G>T (p.Ala12Ser) | gnomAD v4 |
X | g.154371170C= | CA2466660421 | FLNA | c.76G= (p.Ala26=) c.-6G= (n.-6G=) c.34G= (p.Ala12=) | |
X | g.154371170C>G | CA10587975 | FLNA | c.76G>C (p.Ala26Pro) c.-6G>C (n.-6G>C) c.34G>C (p.Ala12Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154371170C>T | CA415255676 | FLNA | c.76G>A (p.Ala26Thr) c.-6G>A (n.-6G>A) c.34G>A (p.Ala12Thr) | ClinVar dbSNP |
X | g.154371171G>A | CA519277597 | FLNA | c.75C>T (p.Asp25=) c.-7C>T (n.-7C>T) c.33C>T (p.Asp11=) | ClinVar gnomAD v3 gnomAD v4 |
X | g.154371171G>C | CA415255679 | FLNA | c.75C>G (p.Asp25Glu) c.-7C>G (n.-7C>G) c.33C>G (p.Asp11Glu) | |
X | g.154371171G>T | CA415255680 | FLNA | c.75C>A (p.Asp25Glu) c.-7C>A (n.-7C>A) c.33C>A (p.Asp11Glu) | ClinVar gnomAD v4 |
X | g.154371172T>A | CA415255682 | FLNA | c.74A>T (p.Asp25Val) c.-8A>T (n.-8A>T) c.32A>T (p.Asp11Val) | |
X | g.154371172T>C | CA415255684 | FLNA | c.74A>G (p.Asp25Gly) c.-8A>G (n.-8A>G) c.32A>G (p.Asp11Gly) | |
X | g.154371172T>G | CA415255686 | FLNA | c.74A>C (p.Asp25Ala) c.-8A>C (n.-8A>C) c.32A>C (p.Asp11Ala) | |
X | g.154371173C>A | CA415255689 | FLNA | c.73G>T (p.Asp25Tyr) c.-9G>T (n.-9G>T) c.31G>T (p.Asp11Tyr) | gnomAD v4 |
X | g.154371173C>G | CA415255690 | FLNA | c.73G>C (p.Asp25His) c.-9G>C (n.-9G>C) c.31G>C (p.Asp11His) | |
X | g.154371173C>T | CA415255692 | FLNA | c.73G>A (p.Asp25Asn) c.-9G>A (n.-9G>A) c.31G>A (p.Asp11Asn) | |
X | g.154371174C>A | CA519277600 | FLNA | c.72G>T (p.Arg24=) c.-10G>T (n.-10G>T) c.30G>T (p.Arg10=) | |
X | g.154371174C= | CA2466660422 | FLNA | c.72G= (p.Arg24=) c.-10G= (n.-10G=) c.30G= (p.Arg10=) | |
X | g.154371174C>G | CA519277599 | FLNA | c.72G>C (p.Arg24=) c.-10G>C (n.-10G>C) c.30G>C (p.Arg10=) | |
X | g.154371174C>T | CA519277598 | FLNA | c.72G>A (p.Arg24=) c.-10G>A (n.-10G>A) c.30G>A (p.Arg10=) | ClinVar dbSNP gnomAD v4 |
X | g.154371175C>A | CA415255698 | FLNA | c.71G>T (p.Arg24Leu) c.-11G>T (n.-11G>T) c.29G>T (p.Arg10Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.154371175C= | CA2466660423 | FLNA | c.71G= (p.Arg24=) c.-11G= (n.-11G=) c.29G= (p.Arg10=) | |
X | g.154371175C>G | CA415255699 | FLNA | c.71G>C (p.Arg24Pro) c.-11G>C (n.-11G>C) c.29G>C (p.Arg10Pro) | gnomAD v4 |
X | g.154371175C>T | CA415255701 | FLNA | c.71G>A (p.Arg24Gln) c.-11G>A (n.-11G>A) c.29G>A (p.Arg10Gln) | gnomAD v4 |
X | g.154371176G>A | CA415255704 | FLNA | c.70C>T (p.Arg24Trp) c.-12C>T (n.-12C>T) c.28C>T (p.Arg10Trp) | ClinVar dbSNP gnomAD v4 |
X | g.154371176G>C | CA415255706 | FLNA | c.70C>G (p.Arg24Gly) c.-12C>G (n.-12C>G) c.28C>G (p.Arg10Gly) | ClinVar dbSNP |
X | g.154371176G= | CA2466660424 | FLNA | c.70C= (p.Arg24=) c.-12C= (n.-12C=) c.28C= (p.Arg10=) | |
X | g.154371176G>T | CA519277601 | FLNA | c.70C>A (p.Arg24=) c.-12C>A (n.-12C>A) c.28C>A (p.Arg10=) | dbSNP gnomAD v4 COSMIC COSMIC |
X | g.154371177C>A | CA519277602 | FLNA | c.69G>T (p.Thr23=) c.-13G>T (n.-13G>T) c.27G>T (p.Thr9=) | ClinVar dbSNP gnomAD v4 |
X | g.154371177C= | CA2466660426 | FLNA | c.69G= (p.Thr23=) c.-13G= (n.-13G=) c.27G= (p.Thr9=) | |
X | g.154371177C>G | CA519277603 | FLNA | c.69G>C (p.Thr23=) c.-13G>C (n.-13G>C) c.27G>C (p.Thr9=) | |
X | g.154371177C>T | CA519277604 | FLNA | c.69G>A (p.Thr23=) c.-13G>A (n.-13G>A) c.27G>A (p.Thr9=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154371177_154371179delinsCGT | CA2466660425 | FLNA | c.67_69delinsACG (p.Thr23=) c.-15_-13delinsACG (n.-15_-13delinsACG) c.25_27delinsACG (p.Thr9=) | |
X | g.154371178G>A | CA337285505 | FLNA | c.68C>T (p.Thr23Met) c.-14C>T (n.-14C>T) c.26C>T (p.Thr9Met) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154371178G>C | CA415255713 | FLNA | c.68C>G (p.Thr23Arg) c.-14C>G (n.-14C>G) c.26C>G (p.Thr9Arg) | |
X | g.154371178G= | CA2466660427 | FLNA | c.68C= (p.Thr23=) c.-14C= (n.-14C=) c.26C= (p.Thr9=) | |
X | g.154371178G>T | CA415255709 | FLNA | c.68C>A (p.Thr23Lys) c.-14C>A (n.-14C>A) c.26C>A (p.Thr9Lys) | ClinVar gnomAD v4 |
X | g.154371180_154371181del | CA341133 | FLNA | c.67_68del (p.Thr23AlafsTer?) c.-15_-14del (n.-15_-14del) c.25_26del (p.Thr9AlafsTer?) | ClinVar dbSNP |
X | g.154371179T>A | CA415255715 | FLNA | c.67A>T (p.Thr23Ser) c.-15A>T (n.-15A>T) c.25A>T (p.Thr9Ser) | |
X | g.154371179T>C | CA10561465 | FLNA | c.67A>G (p.Thr23Ala) c.-15A>G (n.-15A>G) c.25A>G (p.Thr9Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154371179T>G | CA415255718 | FLNA | c.67A>C (p.Thr23Pro) c.-15A>C (n.-15A>C) c.25A>C (p.Thr9Pro) | dbSNP |
X | g.154371179T= | CA2466660428 | FLNA | c.67A= (p.Thr23=) c.-15A= (n.-15A=) c.25A= (p.Thr9=) | |
X | g.154371180G>A | CA208737 | FLNA | c.66C>T (p.Asp22=) c.-16C>T (n.-16C>T) c.24C>T (p.Asp8=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154371180G>C | CA415255722 | FLNA | c.66C>G (p.Asp22Glu) c.-16C>G (n.-16C>G) c.24C>G (p.Asp8Glu) | gnomAD v4 |
X | g.154371180G= | CA2466660440 | FLNA | c.66C= (p.Asp22=) c.-16C= (n.-16C=) c.24C= (p.Asp8=) | |
X | g.154371180G>T | CA415255724 | FLNA | c.66C>A (p.Asp22Glu) c.-16C>A (n.-16C>A) c.24C>A (p.Asp8Glu) | |
X | g.154371181T>A | CA415255727 | FLNA | c.65A>T (p.Asp22Val) c.-17A>T (n.-17A>T) c.23A>T (p.Asp8Val) | dbSNP |
X | g.154371181T>C | CA10561466 | FLNA | c.65A>G (p.Asp22Gly) c.-17A>G (n.-17A>G) c.23A>G (p.Asp8Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.154371181T>G | CA415255730 | FLNA | c.65A>C (p.Asp22Ala) c.-17A>C (n.-17A>C) c.23A>C (p.Asp8Ala) | |
X | g.154371181T= | CA2466660441 | FLNA | c.65A= (p.Asp22=) c.-17A= (n.-17A=) c.23A= (p.Asp8=) | |
X | g.154371182C>A | CA415255734 | FLNA | c.64G>T (p.Asp22Tyr) c.-18G>T (n.-18G>T) c.22G>T (p.Asp8Tyr) | dbSNP gnomAD v2 |
X | g.154371182C= | CA2466660442 | FLNA | c.64G= (p.Asp22=) c.-18G= (n.-18G=) c.22G= (p.Asp8=) | |
X | g.154371182C>G | CA10561467 | FLNA | c.64G>C (p.Asp22His) c.-18G>C (n.-18G>C) c.22G>C (p.Asp8His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154371182C>T | CA415255738 | FLNA | c.64G>A (p.Asp22Asn) c.-18G>A (n.-18G>A) c.22G>A (p.Asp8Asn) | gnomAD v4 |
X | g.154371182_154371183del | CA2579738409 | FLNA | c.63_64del (p.Asp22HisfsTer?) c.-19_-18del (n.-19_-18del) c.21_22del (p.Asp8HisfsTer?) | |
X | g.154371184_154371186dup | CA321894 | FLNA | c.62_64dup (p.Val21_Asp22insVal) c.-20_-18dup (n.-20_-18dup) c.20_22dup (p.Val7_Asp8insVal) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.154371183G>A | CA10561468 | FLNA | c.63C>T (p.Val21=) c.-19C>T (n.-19C>T) c.21C>T (p.Val7=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154371183G>C | CA519277606 | FLNA | c.63C>G (p.Val21=) c.-19C>G (n.-19C>G) c.21C>G (p.Val7=) | COSMIC COSMIC |
X | g.154371183G= | CA2466660443 | FLNA | c.63C= (p.Val21=) c.-19C= (n.-19C=) c.21C= (p.Val7=) | |
X | g.154371183G>T | CA519277605 | FLNA | c.63C>A (p.Val21=) c.-19C>A (n.-19C>A) c.21C>A (p.Val7=) | |
X | g.154371184A= | CA2466660444 | FLNA | c.62T= (p.Val21=) c.-20T= (n.-20T=) c.20T= (p.Val7=) | |
X | g.154371184A>C | CA415255742 | FLNA | c.62T>G (p.Val21Gly) c.-20T>G (n.-20T>G) c.20T>G (p.Val7Gly) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154371184A>G | CA415255743 | FLNA | c.62T>C (p.Val21Ala) c.-20T>C (n.-20T>C) c.20T>C (p.Val7Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.154371184A>T | CA415255745 | FLNA | c.62T>A (p.Val21Asp) c.-20T>A (n.-20T>A) c.20T>A (p.Val7Asp) | |
X | g.154371185C>A | CA415255748 | FLNA | c.61G>T (p.Val21Phe) c.-21G>T (n.-21G>T) c.19G>T (p.Val7Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.154371185C= | CA2466660446 | FLNA | c.61G= (p.Val21=) c.-21G= (n.-21G=) c.19G= (p.Val7=) | |
X | g.154371185C>G | CA415255750 | FLNA | c.61G>C (p.Val21Leu) c.-21G>C (n.-21G>C) c.19G>C (p.Val7Leu) | |
X | g.154371185C>T | CA415255752 | FLNA | c.61G>A (p.Val21Ile) c.-21G>A (n.-21G>A) c.19G>A (p.Val7Ile) | gnomAD v4 |
X | g.154371192_154371194dup | CA2466660445 | FLNA | c.59_61dup (p.Gly20_Val21insGly) c.-23_-21dup (n.-23_-21dup) c.17_19dup (p.Gly6_Val7insGly) | ClinVar dbSNP |
X | g.154371192_154371194del | CA2695083638 | FLNA | c.59_61del (p.Gly20del) c.-23_-21del (n.-23_-21del) c.17_19del (p.Gly6del) | gnomAD v4 |
X | g.154371186G>A | CA519277607 | FLNA | c.60C>T (p.Gly20=) c.-22C>T (n.-22C>T) c.18C>T (p.Gly6=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154371186G>C | CA519277608 | FLNA | c.60C>G (p.Gly20=) c.-22C>G (n.-22C>G) c.18C>G (p.Gly6=) | gnomAD v4 |
X | g.154371186G= | CA2466660447 | FLNA | c.60C= (p.Gly20=) c.-22C= (n.-22C=) c.18C= (p.Gly6=) | |
X | g.154371186G>T | CA519277609 | FLNA | c.60C>A (p.Gly20=) c.-22C>A (n.-22C>A) c.18C>A (p.Gly6=) | |
X | g.154371187C>A | CA415255755 | FLNA | c.59G>T (p.Gly20Val) c.-23G>T (n.-23G>T) c.17G>T (p.Gly6Val) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154371187C= | CA2466660448 | FLNA | c.59G= (p.Gly20=) c.-23G= (n.-23G=) c.17G= (p.Gly6=) | |
X | g.154371187C>G | CA415255756 | FLNA | c.59G>C (p.Gly20Ala) c.-23G>C (n.-23G>C) c.17G>C (p.Gly6Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154371187C>T | CA415255758 | FLNA | c.59G>A (p.Gly20Asp) c.-23G>A (n.-23G>A) c.17G>A (p.Gly6Asp) | |
X | g.154371188C>A | CA415255761 | FLNA | c.58G>T (p.Gly20Cys) c.-24G>T (n.-24G>T) c.16G>T (p.Gly6Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.154371188C= | CA2466660449 | FLNA | c.58G= (p.Gly20=) c.-24G= (n.-24G=) c.16G= (p.Gly6=) | |
X | g.154371188C>G | CA415255763 | FLNA | c.58G>C (p.Gly20Arg) c.-24G>C (n.-24G>C) c.16G>C (p.Gly6Arg) | gnomAD v4 |
X | g.154371188C>T | CA415255764 | FLNA | c.58G>A (p.Gly20Ser) c.-24G>A (n.-24G>A) c.16G>A (p.Gly6Ser) | ClinVar dbSNP gnomAD v4 |
X | g.154371189G>A | CA519277610 | FLNA | c.57C>T (p.Gly19=) c.-25C>T (n.-25C>T) c.15C>T (p.Gly5=) | gnomAD v4 |
X | g.154371189G>C | CA519277611 | FLNA | c.57C>G (p.Gly19=) c.-25C>G (n.-25C>G) c.15C>G (p.Gly5=) | |
X | g.154371189G= | CA2466660450 | FLNA | c.57C= (p.Gly19=) c.-25C= (n.-25C=) c.15C= (p.Gly5=) | |
X | g.154371189G>T | CA519277612 | FLNA | c.57C>A (p.Gly19=) c.-25C>A (n.-25C>A) c.15C>A (p.Gly5=) | dbSNP gnomAD v4 |
X | g.154371190C>A | CA415255767 | FLNA | c.56G>T (p.Gly19Val) c.-26G>T (n.-26G>T) c.14G>T (p.Gly5Val) | |
X | g.154371190C>G | CA415255771 | FLNA | c.56G>C (p.Gly19Ala) c.-26G>C (n.-26G>C) c.14G>C (p.Gly5Ala) | |
X | g.154371190C>T | CA415255769 | FLNA | c.56G>A (p.Gly19Asp) c.-26G>A (n.-26G>A) c.14G>A (p.Gly5Asp) | gnomAD v4 COSMIC COSMIC |
X | g.154371191C>A | CA415255772 | FLNA | c.55G>T (p.Gly19Cys) c.-27G>T (n.-27G>T) c.13G>T (p.Gly5Cys) | |
X | g.154371191C= | CA2466660451 | FLNA | c.55G= (p.Gly19=) c.-27G= (n.-27G=) c.13G= (p.Gly5=) | |
X | g.154371191C>G | CA415255776 | FLNA | c.55G>C (p.Gly19Arg) c.-27G>C (n.-27G>C) c.13G>C (p.Gly5Arg) | |
X | g.154371191C>T | CA415255774 | FLNA | c.55G>A (p.Gly19Ser) c.-27G>A (n.-27G>A) c.13G>A (p.Gly5Ser) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154371192G>A | CA519277613 | FLNA | c.54C>T (p.Gly18=) c.-28C>T (n.-28C>T) c.12C>T (p.Gly4=) | gnomAD v4 |
X | g.154371192G>C | CA519277614 | FLNA | c.54C>G (p.Gly18=) c.-28C>G (n.-28C>G) c.12C>G (p.Gly4=) | |
X | g.154371192G>T | CA519277615 | FLNA | c.54C>A (p.Gly18=) c.-28C>A (n.-28C>A) c.12C>A (p.Gly4=) | gnomAD v4 |
X | g.154371193C>A | CA415255779 | FLNA | c.53G>T (p.Gly18Val) c.-29G>T (n.-29G>T) c.11G>T (p.Gly4Val) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154371193C= | CA2466660452 | FLNA | c.53G= (p.Gly18=) c.-29G= (n.-29G=) c.11G= (p.Gly4=) | |
X | g.154371193C>G | CA415255780 | FLNA | c.53G>C (p.Gly18Ala) c.-29G>C (n.-29G>C) c.11G>C (p.Gly4Ala) | gnomAD v4 |
X | g.154371193C>T | CA415255782 | FLNA | c.53G>A (p.Gly18Asp) c.-29G>A (n.-29G>A) c.11G>A (p.Gly4Asp) | ClinVar |
X | g.154371194C>A | CA415255785 | FLNA | c.52G>T (p.Gly18Cys) c.-30G>T (n.-30G>T) c.10G>T (p.Gly4Cys) | |
X | g.154371194C= | CA2466660453 | FLNA | c.52G= (p.Gly18=) c.-30G= (n.-30G=) c.10G= (p.Gly4=) | |
X | g.154371194C>G | CA415255786 | FLNA | c.52G>C (p.Gly18Arg) c.-30G>C (n.-30G>C) c.10G>C (p.Gly4Arg) | |
X | g.154371194C>T | CA415255788 | FLNA | c.52G>A (p.Gly18Ser) c.-30G>A (n.-30G>A) c.10G>A (p.Gly4Ser) | dbSNP gnomAD v4 |
X | g.154371195C>A | CA519277616 | FLNA | c.51G>T (p.Pro17=) c.-31G>T (n.-31G>T) c.9G>T (p.Pro3=) | gnomAD v4 |
X | g.154371195C= | CA2466660454 | FLNA | c.51G= (p.Pro17=) c.-31G= (n.-31G=) c.9G= (p.Pro3=) | |
X | g.154371195C>G | CA519277617 | FLNA | c.51G>C (p.Pro17=) c.-31G>C (n.-31G>C) c.9G>C (p.Pro3=) | dbSNP |
X | g.154371195C>T | CA519277618 | FLNA | c.51G>A (p.Pro17=) c.-31G>A (n.-31G>A) c.9G>A (p.Pro3=) | dbSNP gnomAD v4 |
X | g.154371196G>A | CA16608787 | FLNA | c.50C>T (p.Pro17Leu) c.-32C>T (n.-32C>T) c.8C>T (p.Pro3Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.154371196G>C | CA415255791 | FLNA | c.50C>G (p.Pro17Arg) c.-32C>G (n.-32C>G) c.8C>G (p.Pro3Arg) | |
X | g.154371196G= | CA2466660455 | FLNA | c.50C= (p.Pro17=) c.-32C= (n.-32C=) c.8C= (p.Pro3=) | |
X | g.154371196G>T | CA415255793 | FLNA | c.50C>A (p.Pro17Gln) c.-32C>A (n.-32C>A) c.8C>A (p.Pro3Gln) | |
X | g.154371197G>A | CA415255796 | FLNA | c.49C>T (p.Pro17Ser) c.-33C>T (n.-33C>T) c.7C>T (p.Pro3Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.154371197G>C | CA415255798 | FLNA | c.49C>G (p.Pro17Ala) c.-33C>G (n.-33C>G) c.7C>G (p.Pro3Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.154371197G= | CA2466660456 | FLNA | c.49C= (p.Pro17=) c.-33C= (n.-33C=) c.7C= (p.Pro3=) | |
X | g.154371197G>T | CA415255799 | FLNA | c.49C>A (p.Pro17Thr) c.-33C>A (n.-33C>A) c.7C>A (p.Pro3Thr) | |
X | g.154371198A>C | CA519277620 | FLNA | c.48T>G (p.Ala16=) c.-34T>G (n.-34T>G) c.6T>G (p.Ala2=) | |
X | g.154371198A>G | CA519277621 | FLNA | c.48T>C (p.Ala16=) c.-34T>C (n.-34T>C) c.6T>C (p.Ala2=) | dbSNP gnomAD v4 |
X | g.154371198A>T | CA519277619 | FLNA | c.48T>A (p.Ala16=) c.-34T>A (n.-34T>A) c.6T>A (p.Ala2=) | |
X | g.154371199G>A | CA415255802 | FLNA | c.47C>T (p.Ala16Val) c.-35C>T (n.-35C>T) c.5C>T (p.Ala2Val) | ClinVar gnomAD v4 |
X | g.154371199G>C | CA415255806 | FLNA | c.47C>G (p.Ala16Gly) c.-35C>G (n.-35C>G) c.5C>G (p.Ala2Gly) | |
X | g.154371199G>T | CA415255804 | FLNA | c.47C>A (p.Ala16Asp) c.-35C>A (n.-35C>A) c.5C>A (p.Ala2Asp) | |
X | g.154371200C>A | CA415255808 | FLNA | c.46G>T (p.Ala16Ser) c.-36G>T (n.-36G>T) c.4G>T (p.Ala2Ser) | |
X | g.154371200C= | CA2466660457 | FLNA | c.46G= (p.Ala16=) c.-36G= (n.-36G=) c.4G= (p.Ala2=) | |
X | g.154371200C>G | CA415255810 | FLNA | c.46G>C (p.Ala16Pro) c.-36G>C (n.-36G>C) c.4G>C (p.Ala2Pro) | gnomAD v4 |
X | g.154371200C>T | CA415255812 | FLNA | c.46G>A (p.Ala16Thr) c.-36G>A (n.-36G>A) c.4G>A (p.Ala2Thr) | dbSNP |
X | g.154371201C>A | CA519277624 | FLNA | c.45G>T (p.Ala15=) c.-37G>T (n.-37G>T) c.3G>T (p.Ala1=) | ClinVar gnomAD v4 |
X | g.154371201C>G | CA519277622 | FLNA | c.45G>C (p.Ala15=) c.-37G>C (n.-37G>C) c.3G>C (p.Ala1=) | |
X | g.154371201C>T | CA519277623 | FLNA | c.45G>A (p.Ala15=) c.-37G>A (n.-37G>A) c.3G>A (p.Ala1=) | |
X | g.154371202G>A | CA415255815 | FLNA | c.44C>T (p.Ala15Val) c.-38C>T (n.-38C>T) c.2C>T (p.Ala1Val) | gnomAD v4 |
X | g.154371202G>C | CA415255817 | FLNA | c.44C>G (p.Ala15Gly) c.-38C>G (n.-38C>G) c.2C>G (p.Ala1Gly) | |
X | g.154371202G>T | CA415255819 | FLNA | c.44C>A (p.Ala15Glu) c.-38C>A (n.-38C>A) c.2C>A (p.Ala1Glu) | ClinVar gnomAD v4 |
X | g.154371203C>A | CA415255822 | FLNA | c.43G>T (p.Ala15Ser) c.-39G>T (n.-39G>T) c.1G>T (p.Ala1Ser) | ClinVar gnomAD v4 |
X | g.154371203C= | CA2466660459 | FLNA | c.43G= (p.Ala15=) c.-39G= (n.-39G=) c.1G= (p.Ala1=) | |
X | g.154371203C>G | CA415255823 | FLNA | c.43G>C (p.Ala15Pro) c.-39G>C (n.-39G>C) c.1G>C (p.Ala1Pro) | |
X | g.154371203C>T | CA10561469 | FLNA | c.43G>A (p.Ala15Thr) c.-39G>A (n.-39G>A) c.1G>A (p.Ala1Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
X | g.154371203_154371204delinsCG | CA2466660458 | FLNA | c.42_43delinsCG (p.Gly14=) c.-40_-39delinsCG (n.-40_-39delinsCG) | |
X | g.154371204del | CA221718 | FLNA | c.42del (p.Ala15ArgfsTer?) c.-40del (n.-40del) | ClinVar dbSNP |
X | g.154371204G>A | CA519277625 | FLNA | c.42C>T (p.Gly14=) c.-40C>T (n.-40C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.154371204G>C | CA519277626 | FLNA | c.42C>G (p.Gly14=) c.-40C>G (n.-40C>G) | |
X | g.154371204G= | CA2466660460 | FLNA | c.42C= (p.Gly14=) c.-40C= (n.-40C=) | |
X | g.154371204G>T | CA519277627 | FLNA | c.42C>A (p.Gly14=) c.-40C>A (n.-40C>A) | gnomAD v4 |
X | g.154371205C>A | CA415255833 | FLNA | c.41G>T (p.Gly14Val) c.-41G>T (n.-41G>T) | |
X | g.154371205C= | CA2466660461 | FLNA | c.41G= (p.Gly14=) c.-41G= (n.-41G=) | |
X | g.154371205C>G | CA415255829 | FLNA | c.41G>C (p.Gly14Ala) c.-41G>C (n.-41G>C) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154371205C>T | CA415255831 | FLNA | c.41G>A (p.Gly14Asp) c.-41G>A (n.-41G>A) | |
X | g.154371206C>A | CA415255835 | FLNA | c.40G>T (p.Gly14Cys) c.-42G>T (n.-42G>T) | |
X | g.154371206C>G | CA415255837 | FLNA | c.40G>C (p.Gly14Arg) c.-42G>C (n.-42G>C) | |
X | g.154371206C>T | CA415255838 | FLNA | c.40G>A (p.Gly14Ser) c.-42G>A (n.-42G>A) | |
X | g.154371207T>A | CA519277629 | FLNA | c.39A>T (p.Ala13=) c.-43A>T (n.-43A>T) | |
X | g.154371207T>C | CA10561470 | FLNA | c.39A>G (p.Ala13=) c.-43A>G (n.-43A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154371207T>G | CA519277628 | FLNA | c.39A>C (p.Ala13=) c.-43A>C (n.-43A>C) | |
X | g.154371207T= | CA2466660462 | FLNA | c.39A= (p.Ala13=) c.-43A= (n.-43A=) | |
X | g.154371208G>A | CA415255843 | FLNA | c.38C>T (p.Ala13Val) c.-44C>T (n.-44C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154371208G>C | CA415255845 | FLNA | c.38C>G (p.Ala13Gly) c.-44C>G (n.-44C>G) | |
X | g.154371208G= | CA2466660463 | FLNA | c.38C= (p.Ala13=) c.-44C= (n.-44C=) | |
X | g.154371208G>T | CA415255846 | FLNA | c.38C>A (p.Ala13Glu) c.-44C>A (n.-44C>A) | dbSNP gnomAD v4 |
X | g.154371209C>A | CA415255849 | FLNA | c.37G>T (p.Ala13Ser) c.-45G>T (n.-45G>T) | gnomAD v4 |
X | g.154371209C>G | CA415255850 | FLNA | c.37G>C (p.Ala13Pro) c.-45G>C (n.-45G>C) | |
X | g.154371209C>T | CA415255852 | FLNA | c.37G>A (p.Ala13Thr) c.-45G>A (n.-45G>A) | |
X | g.154371210T>A | CA519277630 | FLNA | c.36A>T (p.Ala12=) c.-46A>T (n.-46A>T) | ClinVar dbSNP |
X | g.154371210T>C | CA519277632 | FLNA | c.36A>G (p.Ala12=) c.-46A>G (n.-46A>G) | gnomAD v4 |
X | g.154371210T>G | CA519277631 | FLNA | c.36A>C (p.Ala12=) c.-46A>C (n.-46A>C) | gnomAD v4 |
X | g.154371210T= | CA2466660464 | FLNA | c.36A= (p.Ala12=) c.-46A= (n.-46A=) | |
X | g.154371211G>A | CA415255859 | FLNA | c.35C>T (p.Ala12Val) c.-47C>T (n.-47C>T) | gnomAD v4 |
X | g.154371211G>C | CA415255855 | FLNA | c.35C>G (p.Ala12Gly) c.-47C>G (n.-47C>G) | gnomAD v4 |
X | g.154371211G>T | CA415255857 | FLNA | c.35C>A (p.Ala12Glu) c.-47C>A (n.-47C>A) | ClinVar gnomAD v4 |
X | g.154371212C>A | CA415255861 | FLNA | c.34G>T (p.Ala12Ser) c.-48G>T (n.-48G>T) | ClinVar dbSNP gnomAD v4 |
X | g.154371212C= | CA2466660465 | FLNA | c.34G= (p.Ala12=) c.-48G= (n.-48G=) | |
X | g.154371212C>G | CA415255863 | FLNA | c.34G>C (p.Ala12Pro) c.-48G>C (n.-48G>C) | |
X | g.154371212C>T | CA415255867 | FLNA | c.34G>A (p.Ala12Thr) c.-48G>A (n.-48G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.154371213G>A | CA519277633 | FLNA | c.33C>T (p.Ser11=) c.-49C>T (n.-49C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
X | g.154371213G>C | CA415255868 | FLNA | c.33C>G (p.Ser11Arg) c.-49C>G (n.-49C>G) | gnomAD v4 |
X | g.154371213G= | CA2466660466 | FLNA | c.33C= (p.Ser11=) c.-49C= (n.-49C=) | |
X | g.154371213G>T | CA415255869 | FLNA | c.33C>A (p.Ser11Arg) c.-49C>A (n.-49C>A) | |
X | g.154371214C>A | CA10561471 | FLNA | c.32G>T (p.Ser11Ile) c.-50G>T (n.-50G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154371214C= | CA2466660467 | FLNA | c.32G= (p.Ser11=) c.-50G= (n.-50G=) | |
X | g.154371214C>G | CA415255870 | FLNA | c.32G>C (p.Ser11Thr) c.-50G>C (n.-50G>C) | gnomAD v4 |
X | g.154371214C>T | CA415255871 | FLNA | c.32G>A (p.Ser11Asn) c.-50G>A (n.-50G>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154371215T>A | CA415255872 | FLNA | c.31A>T (p.Ser11Cys) c.-51A>T (n.-51A>T) | |
X | g.154371215T>C | CA415255873 | FLNA | c.31A>G (p.Ser11Gly) c.-51A>G (n.-51A>G) | gnomAD v4 |
X | g.154371215T>G | CA415255874 | FLNA | c.31A>C (p.Ser11Arg) c.-51A>C (n.-51A>C) | |
X | g.154371216C>A | CA415255876 | FLNA | c.30G>T (p.Gln10His) c.-52G>T (n.-52G>T) | |
X | g.154371216C>G | CA415255875 | FLNA | c.30G>C (p.Gln10His) c.-52G>C (n.-52G>C) | |
X | g.154371216C>T | CA519277634 | FLNA | c.30G>A (p.Gln10=) c.-52G>A (n.-52G>A) | |
X | g.154371217T>A | CA415255877 | FLNA | c.29A>T (p.Gln10Leu) c.-53A>T (n.-53A>T) | |
X | g.154371217T>C | CA10561472 | FLNA | c.29A>G (p.Gln10Arg) c.-53A>G (n.-53A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154371217T>G | CA415255878 | FLNA | c.29A>C (p.Gln10Pro) c.-53A>C (n.-53A>C) | ClinVar dbSNP gnomAD v4 |
X | g.154371217T= | CA2466660468 | FLNA | c.29A= (p.Gln10=) c.-53A= (n.-53A=) | |
X | g.154371218G>A | CA415255879 | FLNA | c.28C>T (p.Gln10Ter) c.-54C>T (n.-54C>T) | |
X | g.154371218G>C | CA415255881 | FLNA | c.28C>G (p.Gln10Glu) c.-54C>G (n.-54C>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154371218G= | CA2466660469 | FLNA | c.28C= (p.Gln10=) c.-54C= (n.-54C=) | |
X | g.154371218G>T | CA415255880 | FLNA | c.28C>A (p.Gln10Lys) c.-54C>A (n.-54C>A) | |
X | g.154371219G>A | CA519277635 | FLNA | c.27C>T (p.Gly9=) c.-55C>T (n.-55C>T) | dbSNP gnomAD v4 |
X | g.154371219G>C | CA519277636 | FLNA | c.27C>G (p.Gly9=) c.-55C>G (n.-55C>G) | |
X | g.154371219G= | CA2466660470 | FLNA | c.27C= (p.Gly9=) c.-55C= (n.-55C=) | |
X | g.154371219G>T | CA519277637 | FLNA | c.27C>A (p.Gly9=) c.-55C>A (n.-55C>A) | gnomAD v4 |
X | g.154371220C>A | CA415255882 | FLNA | c.26G>T (p.Gly9Val) c.-56G>T (n.-56G>T) | gnomAD v4 |
X | g.154371220C= | CA2466660471 | FLNA | c.26G= (p.Gly9=) c.-56G= (n.-56G=) | |
X | g.154371220C>G | CA415255883 | FLNA | c.26G>C (p.Gly9Ala) c.-56G>C (n.-56G>C) | gnomAD v4 |
X | g.154371220C>T | CA415255884 | FLNA | c.26G>A (p.Gly9Asp) c.-56G>A (n.-56G>A) | dbSNP gnomAD v4 |
X | g.154371221C>A | CA10561473 | FLNA | c.25G>T (p.Gly9Cys) c.-57G>T (n.-57G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154371221C= | CA2466660472 | FLNA | c.25G= (p.Gly9=) c.-57G= (n.-57G=) | |
X | g.154371221C>G | CA10561474 | FLNA | c.25G>C (p.Gly9Arg) c.-57G>C (n.-57G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154371221C>T | CA415255885 | FLNA | c.25G>A (p.Gly9Ser) c.-57G>A (n.-57G>A) | |
X | g.154371222C>A | CA16609154 | FLNA | c.24G>T (p.Ala8=) c.-58G>T (n.-58G>T) | ClinVar dbSNP gnomAD v2 |
X | g.154371222C= | CA2466660473 | FLNA | c.24G= (p.Ala8=) c.-58G= (n.-58G=) | |
X | g.154371222C>G | CA519277638 | FLNA | c.24G>C (p.Ala8=) c.-58G>C (n.-58G>C) | |
X | g.154371222C>T | CA519277639 | FLNA | c.24G>A (p.Ala8=) c.-58G>A (n.-58G>A) | ClinVar dbSNP gnomAD v4 |
X | g.154371223G>A | CA415255886 | FLNA | c.23C>T (p.Ala8Val) c.-59C>T (n.-59C>T) | ClinVar dbSNP gnomAD v2 |
X | g.154371223G>C | CA415255887 | FLNA | c.23C>G (p.Ala8Gly) c.-59C>G (n.-59C>G) | |
X | g.154371223G= | CA2466660474 | FLNA | c.23C= (p.Ala8=) c.-59C= (n.-59C=) | |
X | g.154371223G>T | CA415255888 | FLNA | c.23C>A (p.Ala8Glu) c.-59C>A (n.-59C>A) | |
X | g.154371224C>A | CA415255889 | FLNA | c.22G>T (p.Ala8Ser) c.-60G>T (n.-60G>T) | |
X | g.154371224C>G | CA415255890 | FLNA | c.22G>C (p.Ala8Pro) c.-60G>C (n.-60G>C) | |
X | g.154371224C>T | CA415255891 | FLNA | c.22G>A (p.Ala8Thr) c.-60G>A (n.-60G>A) | |
X | g.154371225C>A | CA519277640 | FLNA | c.21G>T (p.Arg7=) c.-61G>T (n.-61G>T) | |
X | g.154371225C>G | CA519277642 | FLNA | c.21G>C (p.Arg7=) c.-61G>C (n.-61G>C) | gnomAD v4 |
X | g.154371225C>T | CA519277641 | FLNA | c.21G>A (p.Arg7=) c.-61G>A (n.-61G>A) | gnomAD v4 |
X | g.154371226C>A | CA415255892 | FLNA | c.20G>T (p.Arg7Leu) c.-62G>T (n.-62G>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154371226C= | CA2466660475 | FLNA | c.20G= (p.Arg7=) c.-62G= (n.-62G=) | |
X | g.154371226C>G | CA10561475 | FLNA | c.20G>C (p.Arg7Pro) c.-62G>C (n.-62G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154371226C>T | CA10561476 | FLNA | c.20G>A (p.Arg7Gln) c.-62G>A (n.-62G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154371226_154371228delinsCGA | CA2466660476 | FLNA | c.18_20delinsTCG (p.Ser6=) c.-64_-62delinsTCG (n.-64_-62delinsTCG) | |
X | g.154371227G>A | CA337285541 | FLNA | c.19C>T (p.Arg7Trp) c.-63C>T (n.-63C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154371227G>C | CA415255893 | FLNA | c.19C>G (p.Arg7Gly) c.-63C>G (n.-63C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154371227G= | CA2466660477 | FLNA | c.19C= (p.Arg7=) c.-63C= (n.-63C=) | |
X | g.154371227G>T | CA519277643 | FLNA | c.19C>A (p.Arg7=) c.-63C>A (n.-63C>A) | |
X | g.154371230_154371231del | CA143707 | FLNA | c.18_19del (p.Arg7GlyfsTer?) c.-64_-63del (n.-64_-63del) | ClinVar dbSNP |
X | g.154371228A= | CA2466660478 | FLNA | c.18T= (p.Ser6=) c.-64T= (n.-64T=) | |
X | g.154371228A>C | CA519277644 | FLNA | c.18T>G (p.Ser6=) c.-64T>G (n.-64T>G) | |
X | g.154371228A>G | CA519277645 | FLNA | c.18T>C (p.Ser6=) c.-64T>C (n.-64T>C) | ClinVar dbSNP |
X | g.154371228A>T | CA519277646 | FLNA | c.18T>A (p.Ser6=) c.-64T>A (n.-64T>A) | |
X | g.154371229G>A | CA10561477 | FLNA | c.17C>T (p.Ser6Phe) c.-65C>T (n.-65C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154371229G>C | CA415255894 | FLNA | c.17C>G (p.Ser6Cys) c.-65C>G (n.-65C>G) | |
X | g.154371229G= | CA2466660479 | FLNA | c.17C= (p.Ser6=) c.-65C= (n.-65C=) | |
X | g.154371229G>T | CA415255895 | FLNA | c.17C>A (p.Ser6Tyr) c.-65C>A (n.-65C>A) | gnomAD v4 |
X | g.154371230A= | CA2466660480 | FLNA | c.16T= (p.Ser6=) c.-66T= (n.-66T=) | |
X | g.154371230A>C | CA415255896 | FLNA | c.16T>G (p.Ser6Ala) c.-66T>G (n.-66T>G) | ClinVar |
X | g.154371230A>G | CA415255897 | FLNA | c.16T>C (p.Ser6Pro) c.-66T>C (n.-66T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.154371230A>T | CA415255898 | FLNA | c.16T>A (p.Ser6Thr) c.-66T>A (n.-66T>A) | |
X | g.154371231G>A | CA519277647 | FLNA | c.15C>T (p.His5=) c.-67C>T (n.-67C>T) | dbSNP gnomAD v4 |
X | g.154371231G>C | CA415255899 | FLNA | c.15C>G (p.His5Gln) c.-67C>G (n.-67C>G) | gnomAD v4 |
X | g.154371231G>T | CA415255900 | FLNA | c.15C>A (p.His5Gln) c.-67C>A (n.-67C>A) | |
X | g.154371232T>A | CA415255901 | FLNA | c.14A>T (p.His5Leu) c.-68A>T (n.-68A>T) | ClinVar |
X | g.154371232T>C | CA415255902 | FLNA | c.14A>G (p.His5Arg) c.-68A>G (n.-68A>G) | gnomAD v4 |
X | g.154371232T>G | CA415255903 | FLNA | c.14A>C (p.His5Pro) c.-68A>C (n.-68A>C) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154371232T= | CA2466660481 | FLNA | c.14A= (p.His5=) c.-68A= (n.-68A=) | |
X | g.154371233G>A | CA10561478 | FLNA | c.13C>T (p.His5Tyr) c.-69C>T (n.-69C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154371233G>C | CA415255904 | FLNA | c.13C>G (p.His5Asp) c.-69C>G (n.-69C>G) | |
X | g.154371233G= | CA2466660482 | FLNA | c.13C= (p.His5=) c.-69C= (n.-69C=) | |
X | g.154371233G>T | CA415255906 | FLNA | c.13C>A (p.His5Asn) c.-69C>A (n.-69C>A) | |
X | g.154371234G>A | CA519277648 | FLNA | c.12C>T (p.Ser4=) c.-70C>T (n.-70C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154371234G>C | CA519277649 | FLNA | c.12C>G (p.Ser4=) c.-70C>G (n.-70C>G) | |
X | g.154371234G= | CA2466660483 | FLNA | c.12C= (p.Ser4=) c.-70C= (n.-70C=) | |
X | g.154371234G>T | CA519277650 | FLNA | c.12C>A (p.Ser4=) c.-70C>A (n.-70C>A) | gnomAD v4 |
X | g.154371235G>A | CA415255908 | FLNA | c.11C>T (p.Ser4Phe) c.-71C>T (n.-71C>T) | |
X | g.154371235G>C | CA415255910 | FLNA | c.11C>G (p.Ser4Cys) c.-71C>G (n.-71C>G) | gnomAD v4 |
X | g.154371235G>T | CA415255912 | FLNA | c.11C>A (p.Ser4Tyr) c.-71C>A (n.-71C>A) | |
X | g.154371236A>C | CA415255914 | FLNA | c.10T>G (p.Ser4Ala) c.-72T>G (n.-72T>G) | |
X | g.154371236A>G | CA415255916 | FLNA | c.10T>C (p.Ser4Pro) c.-72T>C (n.-72T>C) | |
X | g.154371236A>T | CA415255918 | FLNA | c.10T>A (p.Ser4Thr) c.-72T>A (n.-72T>A) | |
X | g.154371237G>A | CA16608342 | FLNA | c.9C>T (p.Ser3=) c.-73C>T (n.-73C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.154371237G>C | CA415255922 | FLNA | c.9C>G (p.Ser3Arg) c.-73C>G (n.-73C>G) | |
X | g.154371237G= | CA2466660484 | FLNA | c.9C= (p.Ser3=) c.-73C= (n.-73C=) | |
X | g.154371237G>T | CA415255921 | FLNA | c.9C>A (p.Ser3Arg) c.-73C>A (n.-73C>A) | gnomAD v4 |