Full data view for gene C5

Information The variants shown are described using the NM_001735.2 transcript reference sequence.

88 entries on 1 page. Showing entries 1 - 88.
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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.-24522C>T r.(?) p.(=) Unknown - likely benign g.123837046G>A - C5(NM_001317163.2):c.69C>T (p.F23=) - C5_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-24508G>A r.(?) p.(=) Unknown - VUS g.123837032C>T - C5(NM_001317163.1):c.83G>A (p.R28K) - C5_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-24498C>T r.(?) p.(=) Unknown - likely benign g.123837022G>A g.121074744G>A C5(NM_001317163.1):c.83+10C>T - C5_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.95G>A r.(?) p.(Arg32His) Unknown - VUS g.123808632C>T - - - C5_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.192T>C r.(?) p.(Phe64=) Unknown - likely benign g.123808535A>G g.121046257A>G C5(NM_001317163.1):c.210T>C (p.F70=) - C5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.259-3C>A r.spl? p.? Unknown - likely benign g.123805447G>T - C5(NM_001735.3):c.259-3C>A - C5_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.267A>C r.(?) p.(=) Unknown - VUS g.123805436T>G - - - C5_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.352C>T r.(?) p.(Pro118Ser) Unknown - VUS g.123805351G>A g.121043073G>A C5(NM_001317163.1):c.370C>T (p.P124S) - C5_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.433G>A r.(?) p.(Val145Ile) Unknown - likely benign g.123800218C>T - - - C5_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.460C>T r.(?) p.(Pro154Ser) Unknown - likely benign g.123800191G>A g.121037913G>A C5(NM_001317163.1):c.478C>T (p.P160S) - C5_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.471A>T r.(?) p.(Arg157Ser) Unknown - VUS g.123800180T>A - C5(NM_001735.3):c.471A>T (p.(Arg157Ser)) - C5_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.471A>T r.(?) p.(Arg157Ser) Unknown - VUS g.123800180T>A - C5(NM_001735.3):c.471A>T (p.(Arg157Ser)) - C5_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.551C>A r.(?) p.(Ser184Tyr) Unknown - VUS g.123797114G>T g.121034836G>T C5(NM_001317163.1):c.569C>A (p.S190Y) - C5_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.691A>G r.(?) p.(Ile231Val) Unknown - likely benign g.123792742T>C g.121030464T>C C5(NM_001317163.1):c.709A>G (p.I237V) - C5_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.758+20dup r.(=) p.(=) Unknown - likely benign g.123792661dup - C5(NM_001735.2):c.758+20dupT - C5_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.877A>G r.(?) p.(Ile293Val) Unknown - VUS g.123787855T>C g.121025577T>C C5(NM_001317163.1):c.895A>G (p.I299V) - C5_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.989T>C r.(?) p.(Ile330Thr) Unknown - likely benign g.123787743A>G g.121025465A>G C5(NM_001317163.1):c.1007T>C (p.I336T), C5(NM_001735.2):c.989T>C (p.I330T) - C5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.989T>C r.(?) p.(Ile330Thr) Unknown - likely benign g.123787743A>G - C5(NM_001317163.1):c.1007T>C (p.I336T), C5(NM_001735.2):c.989T>C (p.I330T) - C5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.989T>C r.(?) p.(Ile330Thr) Unknown - likely benign g.123787743A>G - C5(NM_001317163.1):c.1007T>C (p.I336T), C5(NM_001735.2):c.989T>C (p.I330T) - C5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1000+27_1000+34dup r.(=) p.(=) Unknown - benign g.123787720_123787727dup g.121025442_121025449dup C5(NM_001735.3):c.1000+21_1000+28dupGTGTGTGT - C5_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1060C>A r.(?) p.(Leu354Met) Unknown - likely benign g.123785738G>T - C5(NM_001317163.1):c.1078C>A (p.L360M) - C5_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1060C>A r.(?) p.(Leu354Met) Unknown - VUS g.123785738G>T - C5(NM_001317163.1):c.1078C>A (p.L360M) - C5_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1147G>T r.(?) p.(Val383Leu) Unknown - VUS g.123783942C>A - C5(NM_001317163.1):c.1165G>T (p.V389L) - C5_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1155A>G r.(?) p.(Gly385=) Unknown - benign g.123783934T>C g.121021656T>C - - C5_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1286C>T r.(?) p.(Thr429Met) Unknown - VUS g.123783803G>A - C5(NM_001735.3):c.1286C>T (p.T429M) - C5_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1418A>G r.(?) p.(His473Arg) Unknown - VUS g.123782342T>C - C5(NM_001317163.1):c.1436A>G (p.H479R) - C5_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1424C>T r.(?) p.(Ala475Val) Unknown - likely benign g.123782336G>A - C5(NM_001317163.1):c.1442C>T (p.A481V) - C5_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1461C>T r.(?) p.(Thr487=) Unknown - benign g.123782299G>A - - - C5_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1632C>T r.(?) p.(Tyr544=) Unknown - benign g.123780005G>A g.121017727G>A C5(NM_001735.3):c.1632C>T (p.Y544=) - C5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1632C>T r.(?) p.(Tyr544=) Unknown - benign g.123780005G>A g.121017727G>A C5(NM_001735.3):c.1632C>T (p.Y544=) - C5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1636G>T r.(?) p.(Val546Phe) Unknown - VUS g.123780001C>A - C5(NM_001317163.2):c.1654G>T (p.V552F) - C5_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1901G>T r.(?) p.(Cys634Phe) Unknown - VUS g.123778627C>A g.121016349C>A - - C5_000031 - PubMed: Kiselev 2019 - rs752464969 Germline - - - - - DNA SEQ, SEQ-NG - - MD Pat PubMed: Kiselev 2019 - F - Sweden - - - - - 1 Johan den Dunnen
-?/. - c.1929C>G r.(?) p.(=) Unknown - likely benign g.123778599G>C - C5(NM_001735.2):c.1929C>G (p.A643=) - C5_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1989A>G r.(?) p.(Gln663=) Unknown - likely benign g.123778539T>C g.121016261T>C C5(NM_001735.2):c.1989A>G (p.Q663=) - C5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2059+3A>G r.spl? p.? Unknown - VUS g.123777474T>C - - - C5_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2059+16T>A r.(=) p.(=) Unknown - likely benign g.123777461A>T - C5(NM_001735.2):c.2059+16T>A - C5_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2163G>A r.(?) p.(=) Unknown - likely benign g.123776245C>T - C5(NM_001735.2):c.2163G>A (p.G721=) - C5_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2163G>A r.(?) p.(=) Unknown - likely benign g.123776245C>T - C5(NM_001735.2):c.2163G>A (p.G721=) - C5_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2177A>G r.(?) p.(Lys726Arg) Unknown - likely benign g.123776231T>C g.121013953T>C C5(NM_001317163.1):c.2195A>G (p.K732R) - C5_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2257+19A>C r.(=) p.(=) Unknown - likely benign g.123776132T>G g.121013854T>G C5(NM_001735.2):c.2257+19A>C - C5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2362T>G r.(?) p.(Phe788Val) Unknown - likely benign g.123769242A>C g.121006964A>C C5(NM_001317163.1):c.2380T>G (p.F794V), C5(NM_001735.2):c.2362T>G (p.F788V) - C5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2362T>G r.(?) p.(Phe788Val) Unknown - likely benign g.123769242A>C - C5(NM_001317163.1):c.2380T>G (p.F794V), C5(NM_001735.2):c.2362T>G (p.F788V) - C5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2404G>A r.(?) p.(Val802Ile) Unknown - benign g.123769200C>T g.121006922C>T C5(NM_001735.3):c.2404G>A (p.V802I) - C5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2404G>A r.(?) p.(Val802Ile) Unknown - benign g.123769200C>T g.121006922C>T C5(NM_001735.3):c.2404G>A (p.V802I) - C5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2420C>T r.(?) p.(Thr807Ile) Unknown - likely benign g.123769184G>A g.121006906G>A C5(NM_001317163.1):c.2438C>T (p.T813I), C5(NM_001735.2):c.2420C>T (p.T807I) - C5_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2420C>T r.(?) p.(Thr807Ile) Unknown - likely benign g.123769184G>A g.121006906G>A C5(NM_001317163.1):c.2438C>T (p.T813I), C5(NM_001735.2):c.2420C>T (p.T807I) - C5_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2598del r.(?) p.(Cys866*) Unknown - VUS g.123760017del - C5(NM_001317163.1):c.2616delC (p.C872*) - C5_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2654G>A r.(?) p.(Arg885His) Parent #1 - pathogenic g.123759961C>T g.120997683C>T - - C5_000036 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs56040400 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.2941+10C>G r.(=) p.(=) Unknown - likely benign g.123753459G>C - C5(NM_001735.2):c.2941+10C>G - C5_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3029C>T r.(?) p.(Ala1010Val) Unknown - likely benign g.123751971G>A g.120989693G>A C5(NM_001317163.1):c.3047C>T (p.A1016V), C5(NM_001735.2):c.3029C>T (p.A1010V), C5(NM_001735.3):c.3029C>T (p.A1010V) - C5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3029C>T r.(?) p.(Ala1010Val) Unknown - likely benign g.123751971G>A g.120989693G>A C5(NM_001317163.1):c.3047C>T (p.A1016V), C5(NM_001735.2):c.3029C>T (p.A1010V), C5(NM_001735.3):c.3029C>T (p.A1010V) - C5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3029C>T r.(?) p.(Ala1010Val) Unknown - likely benign g.123751971G>A - C5(NM_001317163.1):c.3047C>T (p.A1016V), C5(NM_001735.2):c.3029C>T (p.A1010V), C5(NM_001735.3):c.3029C>T (p.A1010V) - C5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3029C>T r.(?) p.(Ala1010Val) Unknown - likely benign g.123751971G>A - C5(NM_001317163.1):c.3047C>T (p.A1016V), C5(NM_001735.2):c.3029C>T (p.A1010V), C5(NM_001735.3):c.3029C>T (p.A1010V) - C5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3068A>G r.(?) p.(His1023Arg) Unknown - likely benign g.123751932T>C - C5(NM_001317163.1):c.3086A>G (p.H1029R) - C5_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3118A>G r.(?) p.(Ile1040Val) Unknown - VUS g.123751882T>C - C5(NM_001317163.1):c.3136A>G (p.I1046V) - C5_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3154+13del r.(=) p.(=) Unknown - likely benign g.123751843del g.120989565del C5(NM_001735.2):c.3154+13delA - C5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3199A>C r.(?) p.(Ser1067Arg) Unknown - likely benign g.123751355T>G - C5(NM_001735.3):c.3199A>C (p.S1067R) - C5_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3199A>C r.(?) p.(Ser1067Arg) Unknown - VUS g.123751355T>G - C5(NM_001735.3):c.3199A>C (p.S1067R) - C5_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3391-10T>C r.(=) p.(=) Unknown - likely benign g.123744227A>G g.120981949A>G C5(NM_001317163.1):c.3409-10T>C - C5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3463G>A r.(?) p.(Ala1155Thr) Unknown - likely benign g.123744145C>T g.120981867C>T C5(NM_001317163.1):c.3481G>A (p.A1161T) - C5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3659-6G>A r.(=) p.(=) Unknown - likely benign g.123739189C>T g.120976911C>T C5(NM_001317163.1):c.3677-6G>A - C5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3732G>A r.(?) p.(Thr1244=) Unknown - likely benign g.123739110C>T g.120976832C>T C5(NM_001317163.1):c.3750G>A (p.T1250=) - C5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3871A>G r.(?) p.(Ile1291Val) Unknown - likely benign g.123737203T>C g.120974925T>C C5(NM_001317163.1):c.3889A>G (p.I1297V), C5(NM_001735.3):c.3871A>G (p.I1291V) - C5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3871A>G r.(?) p.(Ile1291Val) Unknown - likely benign g.123737203T>C - C5(NM_001317163.1):c.3889A>G (p.I1297V), C5(NM_001735.3):c.3871A>G (p.I1291V) - C5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3926T>C r.(?) p.(Leu1309Ser) Unknown - VUS g.123737148A>G - C5(NM_001735.2):c.3926T>C (p.L1309S) - C5_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.4017+17C>G r.(=) p.(=) Unknown - VUS g.123737040G>C g.120974762G>C - - C5_000011 for details see the Uveogene database PubMed: Yang 2015 - rs2269067 Germline - 343/1960 cases - - - DNA arraySNP Blood - Behcet - PubMed: Yang 2015 Chinese cohort F;M - China Chinese - - for details see the Uveogene database - 343 Peizeng Yang
-/. - c.4017+17C>G r.(=) p.(=) Unknown - benign g.123737040G>C g.120974762G>C - - C5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4018-21_4018-18del r.(=) p.(=) Unknown - benign g.123734292_123734295del g.120972014_120972017del - - C5_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4030G>A r.(?) p.(Asp1344Asn) Unknown - VUS g.123734258C>T g.120971980C>T C5(NM_001317163.1):c.4048G>A (p.D1350N) - C5_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4081-6A>G r.(=) p.(=) Unknown - VUS g.123732535T>C - C5(NM_001317163.2):c.4099-6A>G - C5_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4162+10G>A r.(=) p.(=) Unknown - likely benign g.123732438C>T - C5(NM_001735.2):c.4162+10G>A - C5_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4163-12C>T r.(=) p.(=) Unknown - benign g.123731408G>A - - - C5_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4166C>T r.(?) p.(Ser1389Phe) Unknown - likely benign g.123731393G>A - C5(NM_001735.2):c.4166C>T (p.S1389F) - C5_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4204A>G r.(?) p.(Ile1402Val) Unknown - VUS g.123731355T>C - C5(NM_001317163.1):c.4222A>G (p.I1408V) - C5_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4221-13T>C r.(=) p.(=) Unknown - benign g.123726029A>G - - - C5_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4266G>A r.(?) p.(=) Unknown - benign g.123725971C>T - - - C5_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4311A>C r.(?) p.(Glu1437Asp) Unknown - benign g.123725926T>G - - - C5_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4321G>T r.(?) p.(Ala1441Ser) Unknown - likely benign g.123725916C>A - C5(NM_001735.2):c.4321G>T (p.A1441S) - C5_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4323+9T>A r.(=) p.(=) Unknown - likely benign g.123725905A>T - C5(NM_001735.3):c.4323+9T>A - C5_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4488C>T r.(?) p.(Tyr1496=) Unknown - likely benign g.123724965G>A - C5(NM_001317163.1):c.4506C>T (p.Y1502=) - C5_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4572G>A r.(?) p.(=) Unknown - VUS g.123723776C>T - - - C5_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4588+6C>T r.(=) p.(=) Unknown - likely benign g.123723754G>A - C5(NM_001735.2):c.4588+6C>T - C5_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4785C>T r.(?) p.(Asp1595=) Unknown - likely benign g.123716124G>A g.120953846G>A C5(NM_001735.2):c.4785C>T (p.D1595=) - C5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4806A>G r.(?) p.(Lys1602=) Unknown - benign g.123716103T>C - - - C5_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4968G>C r.(?) p.(Ser1656=) Unknown - likely benign g.123715080C>G g.120952802C>G C5(NM_001317163.1):c.4986G>C (p.S1662=) - C5_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4972C>T r.(?) p.(Gln1658*) Unknown - pathogenic g.123715076G>A - - - C5_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4994A>G r.(?) p.(Asp1665Gly) Unknown - VUS g.123715054T>C g.120952776T>C C5(NM_001317163.1):c.5012A>G (p.D1671G) - C5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5011A>G r.(?) p.(Ile1671Val) Unknown - likely benign g.123715037T>C - C5(NM_001317163.1):c.5029A>G (p.I1677V) - C5_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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