Full data view for gene WAS

Information The variants shown are described using the NM_000377.2 transcript reference sequence.

82 entries on 1 page. Showing entries 1 - 82.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.5G>C r.(?) p.(Ser2Thr) Unknown - likely benign g.48542247G>C g.48683858G>C WAS(NM_000377.2):c.5G>C (p.S2T) - WAS_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7G>A r.(?) p.(Gly3Arg) Unknown - VUS g.48542249G>A - - - WAS_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.38G>A r.(?) p.(Arg13Gln) Unknown - VUS g.48542280G>A - WAS(NM_000377.3):c.38G>A (p.(Arg13Gln)) - WAS_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.71C>A r.(?) p.(Ser24Tyr) Unknown - likely pathogenic g.48542313C>A - - - WAS_000056 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.90C>T r.(?) p.(His30=) Unknown - likely benign g.48542332C>T g.48683943C>T WAS(NM_000377.2):c.90C>T (p.H30=) - WAS_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.100C>T r.(?) p.(Arg34Ter) Unknown - pathogenic g.48542342C>T g.48683953C>T WAS(NM_000377.2):c.100C>T (p.R34*) - WAS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.104T>A r.(?) p.(Leu35His) Unknown - pathogenic g.48542346T>A g.48683957T>A WAS(NM_000377.2):c.104T>A (p.L35H) - WAS_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.135G>T r.(?) p.(=) Unknown - likely benign g.48542674G>T - WAS(NM_000377.3):c.135G>T (p.T45=) - WAS_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.142A>G r.(?) p.(Thr48Ala) Unknown - pathogenic g.48542681A>G g.48684292A>G - - WAS_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.150T>A r.(?) p.(Val50=) Unknown - likely benign g.48542689T>A g.48684300T>A WAS(NM_000377.2):c.150T>A (p.V50=) - WAS_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.197A>G r.(?) p.(Lys66Arg) Unknown - VUS g.48542736A>G g.48684347A>G WAS(NM_000377.3):c.197A>G (p.K66R) - WAS_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.208G>A r.(?) p.(Gly70Arg) Unknown ACMG likely pathogenic g.48542747G>A g.48684358G>A - - WAS_000068 - PubMed: Stray-Pedersen 2017 - - Germline - - - - - DNA SEQ-NG - - IMD Pat35,1 PubMed: Stray-Pedersen 2017 - M - Ecuador - - - - - 1 Johan den Dunnen
-?/. - c.216G>A r.(?) p.(Val72=) Unknown - likely benign g.48542755G>A - WAS(NM_000377.2):c.216G>A (p.V72=) - WAS_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.223G>A r.(?) p.(Val75Met) Unknown - pathogenic g.48542762G>A g.48684373G>A - - WAS_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.248_250del r.(?) p.(Tyr83del) Unknown ACMG likely pathogenic g.48542787_48542789del g.48684398_48684400del - - WAS_000074 - - - - Germline ? - - - - DNA SEQ-NG-I peripheral blood WES WAS - - - M - - (not applicable) white - - - - 1 Marketa Wayhelova
?/. - c.257G>A r.(?) p.(Arg86His) Unknown - VUS g.48542796G>A g.48684407G>A WAS(NM_000377.2):c.257G>A (p.R86H) - WAS_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.264C>T r.(?) p.(Tyr88=) Unknown - likely benign g.48542803C>T g.48684414C>T WAS(NM_000377.2):c.264C>T (p.Y88=) - WAS_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.264C>T r.(?) p.(Tyr88=) Unknown - likely benign g.48542803C>T g.48684414C>T WAS(NM_000377.2):c.264C>T (p.Y88=) - WAS_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.266G>A r.(?) p.(Gly89Asp) Unknown - VUS g.48542805G>A - WAS(NM_000377.3):c.266G>A (p.G89D) - WAS_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.273+10_273+11dup r.(=) p.(=) Unknown - likely benign g.48542822_48542823dup g.48684433_48684434dup WAS(NM_000377.2):c.273+10_273+11dupCC, WAS(NM_000377.2):c.273+10_273+11dupCC (p.?), WAS(NM_000377.2):c.273+9_273+10dupCC - WAS_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.273+10_273+11dup r.(=) p.(=) Unknown - likely benign g.48542822_48542823dup - WAS(NM_000377.2):c.273+10_273+11dupCC, WAS(NM_000377.2):c.273+10_273+11dupCC (p.?), WAS(NM_000377.2):c.273+9_273+10dupCC - WAS_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.273+10_273+11dup r.(=) p.(=) Unknown - likely benign g.48542822_48542823dup - WAS(NM_000377.2):c.273+10_273+11dupCC, WAS(NM_000377.2):c.273+10_273+11dupCC (p.?), WAS(NM_000377.2):c.273+9_273+10dupCC - WAS_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.273+11dup r.(=) p.(=) Unknown - likely benign g.48542823dup g.48684434dup WAS(NM_000377.2):c.273+11dup (p.(=)), WAS(NM_000377.2):c.273+11dupC - WAS_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.273+11dup r.(=) p.(=) Unknown - benign g.48542823dup - WAS(NM_000377.2):c.273+11dup (p.(=)), WAS(NM_000377.2):c.273+11dupC - WAS_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.273+12A>C r.(=) p.(=) Unknown - VUS g.48542824A>C g.48684435A>C WAS(NM_000377.2):c.273+12A>C - WAS_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.391G>A r.(?) p.(Glu131Lys) Unknown - likely benign g.48544153G>A g.48685764G>A WAS(NM_000377.2):c.391G>A (p.E131K), WAS(NM_000377.3):c.391G>A (p.E131K) - WAS_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.391G>A r.(?) p.(Glu131Lys) Unknown - VUS g.48544153G>A g.48685764G>A WAS(NM_000377.2):c.391G>A (p.E131K), WAS(NM_000377.3):c.391G>A (p.E131K) - WAS_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.391G>A r.(?) p.(Glu131Lys) Unknown - likely benign g.48544153G>A - WAS(NM_000377.2):c.391G>A (p.E131K), WAS(NM_000377.3):c.391G>A (p.E131K) - WAS_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.396C>T r.(?) p.(Asp132=) Unknown - likely benign g.48544158C>T g.48685769C>T WAS(NM_000377.2):c.396C>T (p.D132=) - WAS_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.397G>A r.(?) p.(Glu133Lys) Unknown - pathogenic g.48544159G>A - - - WAS_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.413G>A r.(?) p.(Arg138Gln) Unknown - likely benign g.48544175G>A g.48685786G>A WAS(NM_000377.2):c.413G>A (p.R138Q), WAS(NM_000377.3):c.413G>A (p.R138Q) - WAS_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.413G>A r.(?) p.(Arg138Gln) Unknown - likely benign g.48544175G>A - WAS(NM_000377.2):c.413G>A (p.R138Q), WAS(NM_000377.3):c.413G>A (p.R138Q) - WAS_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.420C>T r.(?) p.(Leu140=) Unknown - likely benign g.48544182C>T g.48685793C>T WAS(NM_000377.2):c.420C>T (p.L140=) - WAS_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.520C>T r.(?) p.(Leu174Phe) Unknown - likely benign g.48544484C>T - WAS(NM_000377.2):c.520C>T (p.L174F) - WAS_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.538C>A r.(?) p.(His180Asn) Unknown - VUS g.48544502C>A g.48686113C>A WAS(NM_000377.2):c.538C>A (p.H180N, p.(His180Asn)) - WAS_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.538C>A r.(?) p.(His180Asn) Unknown - likely benign g.48544502C>A g.48686113C>A WAS(NM_000377.2):c.538C>A (p.H180N, p.(His180Asn)) - WAS_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.538C>A r.(?) p.(His180Asn) Unknown - likely benign g.48544502C>A - WAS(NM_000377.2):c.538C>A (p.H180N, p.(His180Asn)) - WAS_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.548G>A r.(?) p.(Gly183Glu) Unknown - VUS g.48544512G>A g.48686123G>A WAS(NM_000377.2):c.548G>A (p.G183E) - WAS_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.559+3G>A r.spl? p.? Unknown - likely benign g.48544526G>A - WAS(NM_000377.2):c.559+3G>A (p.?) - WAS_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.559+5G>A r.spl? p.? Unknown - VUS g.48544528G>A g.48686139G>A WAS(NM_000377.2):c.559+5G>A - WAS_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.559+127A>G r.(=) p.(=) Maternal (inferred) - VUS g.48544650A>G g.48686261A>G - - WAS_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.559+127A>G r.(=) p.(=) Maternal (inferred) - VUS g.48544650A>G g.48686261A>G - - WAS_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.575C>A r.(?) p.(Pro192Gln) Unknown - VUS g.48545185C>A - WAS(NM_000377.3):c.575C>A (p.(Pro192Gln)) - WAS_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.575C>T r.(?) p.(Pro192Leu) Unknown - VUS g.48545185C>T - - - WAS_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.623C>T r.(?) p.(Thr208Met) Unknown - VUS g.48545233C>T - WAS(NM_000377.3):c.623C>T (p.T208M) - WAS_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.706G>A r.(?) p.(Ala236Thr) Maternal (confirmed) - likely pathogenic (recessive) g.48545316G>A g.48686927G>A - - WAS_000054 - PubMed: Gernez 2019 - - Germline - - - - - DNA SEQ - - ? Pat4 PubMed: Gernez 2019 2-generation family, 1 affected, unaffected non-carrier parents M - United States Hispanic - - - - 1 Johan den Dunnen
?/. - c.712A>G r.(?) p.(Ile238Val) Unknown - VUS g.48545322A>G g.48686933A>G WAS(NM_000377.2):c.712A>G (p.I238V) - WAS_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.713T>C r.(?) p.(Ile238Thr) Unknown - pathogenic g.48545323T>C - WAS(NM_000377.3):c.713T>C (p.I238T) - WAS_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.778-2A>G r.spl? p.? Unknown - pathogenic g.48546687A>G g.48688298A>G WAS(NM_000377.2):c.778-2A>G - WAS_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.794C>G r.(?) p.(Pro265Arg) Unknown - VUS g.48546705C>G - WAS(NM_000377.3):c.794C>G (p.P265R) - WAS_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 9 c.820G>A r.(?) p.(Ala274Thr) Maternal (confirmed) - VUS g.48546731G>A g.48688342G>A g.9546G>A - WAS_000005 - - - - Somatic - - - - - DNA SEQ-NG Bone Marrow Sanger Sequencing in cDNA JMML;CMML - - - M - Ukraine - 02y - - hematopoietic stem cells transplantation 2 Silvia Bresolin
-?/. - c.850G>A r.(?) p.(Ala284Thr) Unknown - likely benign g.48546761G>A g.48688372G>A WAS(NM_000377.2):c.850G>A (p.A284T) - WAS_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.912G>A r.(?) p.(Arg304=) Unknown - likely benign g.48546823G>A - WAS(NM_000377.2):c.912G>A (p.R304=) - WAS_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.925C>T r.(?) p.(Arg309Cys) Unknown - benign g.48546836C>T g.48688447C>T WAS(NM_000377.2):c.925C>T (p.R309C) - WAS_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.995T>C r.(?) p.(Val332Ala) Unknown - VUS g.48547112T>C g.48688723T>C WAS(NM_000377.2):c.995T>C (p.(Val332Ala), p.V332A) - WAS_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.995T>C r.(?) p.(Val332Ala) Unknown - likely benign g.48547112T>C - WAS(NM_000377.2):c.995T>C (p.(Val332Ala), p.V332A) - WAS_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.995T>C r.(?) p.(Val332Ala) Unknown - likely benign g.48547112T>C - WAS(NM_000377.2):c.995T>C (p.(Val332Ala), p.V332A) - WAS_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1049C>T r.(?) p.(Ala350Val) Unknown - likely benign g.48547166C>T - WAS(NM_000377.2):c.1049C>T (p.A350V) - WAS_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1058del r.(?) p.(Pro353HisfsTer92) Unknown - pathogenic g.48547175del g.48688786del WAS(NM_000377.2):c.1058delC (p.P353Hfs*92) - WAS_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1181C>T r.(?) p.(Pro394Leu) Unknown - VUS g.48547298C>T - WAS(NM_000377.2):c.1181C>T (p.P394L) - WAS_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 10 c.1181C>T r.(?) p.(Pro394Leu) Maternal (confirmed) ACMG VUS g.48547298C>T g.48688909C>T - - WAS_000064 - PubMed: Stray-Pedersen 2017 - - Germline - - - - - DNA SEQ-NG - - IMD Pat74,1 PubMed: Stray-Pedersen 2017 - M - United States Europe - - - - 1 Johan den Dunnen
?/. - c.1200G>A r.(?) p.(Pro400=) Unknown - VUS g.48547317G>A g.48688928G>A WAS(NM_000377.2):c.1200G>A (p.P400=) - WAS_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1205C>T r.(?) p.(Pro402Leu) Unknown - VUS g.48547322C>T - WAS(NM_000377.2):c.1205C>T (p.P402L) - WAS_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1219G>A r.(?) p.(Gly407Arg) Unknown - likely benign g.48547336G>A g.48688947G>A WAS(NM_000377.2):c.1219G>A (p.G407R) - WAS_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1280C>T r.(?) p.(Pro427Leu) Unknown - likely benign g.48547397C>T g.48689008C>T WAS(NM_000377.2):c.1280C>T (p.P427L) - WAS_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1299G>A r.(?) p.(Ala433=) Unknown - benign g.48547416G>A g.48689027G>A WAS(NM_000377.2):c.1299G>A (p.A433=), WAS(NM_000377.3):c.1299G>A (p.(Ala433=)) - WAS_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1299G>A r.(?) p.(Ala433=) Unknown - likely benign g.48547416G>A - WAS(NM_000377.2):c.1299G>A (p.A433=), WAS(NM_000377.3):c.1299G>A (p.(Ala433=)) - WAS_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1299G>A r.(?) p.(Ala433=) Unknown - benign g.48547416G>A - WAS(NM_000377.2):c.1299G>A (p.A433=), WAS(NM_000377.3):c.1299G>A (p.(Ala433=)) - WAS_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1338+1G>A r.spl? p.? Unknown - VUS g.48547456G>A g.48689067G>A WAS(NM_000377.2):c.1338+1G>A - WAS_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 11 c.1377_1378dup r.(?) p.(Pro460Hisfs*12) Maternal (confirmed) ACMG likely pathogenic g.48547747_48547748dup g.48689358_48689359dup - - WAS_000065 - - - - Germline yes - - - - DNA SEQ-NG-I blood - WAS - - - M yes Turkey - 00y02m - - - 1 Aysel Tekmenuray-Unal
-/. - c.1378C>T r.(?) p.(Pro460Ser) Unknown - benign g.48547748C>T g.48689359C>T WAS(NM_000377.2):c.1378C>T (p.P460S, p.(Pro460Ser)) - WAS_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1378C>T r.(?) p.(Pro460Ser) Unknown - likely benign g.48547748C>T g.48689359C>T WAS(NM_000377.2):c.1378C>T (p.P460S, p.(Pro460Ser)) - WAS_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1378C>T r.(?) p.(Pro460Ser) Unknown - likely benign g.48547748C>T - WAS(NM_000377.2):c.1378C>T (p.P460S, p.(Pro460Ser)) - WAS_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1378C>T r.(?) p.(Pro460Ser) Unknown - likely benign g.48547748C>T - WAS(NM_000377.2):c.1378C>T (p.P460S, p.(Pro460Ser)) - WAS_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1453+268C>T r.(=) p.(=) Maternal (inferred) - VUS g.48548091C>T g.48689702= - - WAS_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1453+268C>T r.(=) p.(=) Maternal (inferred) - VUS g.48548091C>T g.48689702= - - WAS_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.1454-12C>A r.(=) p.(=) Unknown - likely benign g.48549486C>A - WAS(NM_000377.2):c.1454-12C>A - WAS_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1455C>T r.(?) p.(Asp485=) Unknown - likely benign g.48549499C>T g.48691108C>T WAS(NM_000377.2):c.1455C>T (p.D485=) - WAS_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1466A>G r.(?) p.(Asp489Gly) Unknown - VUS g.48549510A>G g.48691119A>G WAS(NM_000377.2):c.1466A>G (p.D489G, p.(Asp489Gly)) - WAS_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1466A>G r.(?) p.(Asp489Gly) Unknown - VUS g.48549510A>G g.48691119A>G WAS(NM_000377.2):c.1466A>G (p.D489G, p.(Asp489Gly)) - WAS_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1490A>G r.(?) p.(Asp497Gly) Unknown - VUS g.48549534A>G g.48691143A>G WAS(NM_000377.2):c.1490A>G (p.D497G) - WAS_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1508G>A r.(?) p.(Ter503=) Unknown - likely benign g.48549552G>A g.48691161G>A WAS(NM_000377.2):c.1508G>A (p.*503=) - WAS_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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