All transcript variants in gene FH

This database is one of the TCA cycle gene variant databases
Information The variants shown are described using the NM_000143.3 transcript reference sequence.

395 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     

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     

Owner     
+?/+? 1 c.(?_-63)_(132+1_133-1)del r.spl? p.? - - - likely pathogenic g.(241680617_241682890)_(241683085_?)del - deletion exon 1 - FH_000110 - PubMed: Ahvenainen - - Germline - - - 0 - Jean-Pierre Bayley
+?/+? 1 c.(?_-63)_(132+1_133-1)del r.spl? p.? - - - likely pathogenic g.(241680617_241682890)_(241683085_?)del - Deletion of Exon 1 - FH_000111 - PubMed: Ahvenainen - - Germline - - - 0 - Jean-Pierre Bayley
+?/+ 1_10 c.(?_-63)_(*271_?)del r.? p.? 0 - - likely pathogenic g.(?_241660857)_(241683085_?)del - Whole-gene deletion - FH_000001 not found in 300 chrom PubMed: Tomlinson - - Germline - - - 0 - Jean-Pierre Bayley
+?/+ 1_10 c.(?_-63)_(*271_?)del r.? p.? 0.01 - - likely pathogenic g.(?_241660857)_(241683085_?)del - Whole-gene deletion - FH_000001 not found in 300 chrom PubMed: Tomlinson - - Germline - - - 0 - Jean-Pierre Bayley
+?/+ 1_10 c.(?_-63)_(*271_?)del r.? p.? 0 - - likely pathogenic g.(?_241660857)_(241683085_?)del - Whole-gene deletion - FH_000001 - PubMed: Alam - - Germline - - - 0 - Jean-Pierre Bayley
+?/+ 1_10 c.(?_-63)_(*271_?)del r.? p.? 0 - - likely pathogenic g.(?_241660857)_(241683085_?)del - Whole-gene deletion - FH_000001 - PubMed: Alam - - Germline - - - 0 - Jean-Pierre Bayley
+?/+ 1_10 c.(?_-63)_(*271_?)del r.? p.? 0 - - likely pathogenic g.(?_241660857)_(241683085_?)del - c.1-? c.*100del - FH_000001 whole-gene deletion PubMed: Smit - - Germline - - - 0 - Jean-Pierre Bayley
?/? 1_10 c.(?_-63)_(*271_?)del r.? p.? 0.01 - - VUS g.(?_241660857)_(241683085_?)del - Whole-gene deletion - FH_000001 - PubMed: Gardie - - Germline - - - 0 - Jean-Pierre Bayley
?/- 1 c.-11C>T r.(=) p.(=) 0 - - VUS g.241683033G>A g.241519733G>A C>T -11 of ATG - FH_000002 - PubMed: Lehtonen - - Germline - - - 0 - Jean-Pierre Bayley
?/? 1 c.-11C>T r.(=) p.(=) 0.01 - - VUS g.241683033G>A g.241519733G>A p.? - FH_000002 FH enzymatic activity : normal - - - Unknown - - - 0 - Audrey Remenieras
-?/. - c.-11C>T r.(?) p.(=) - - - likely benign g.241683033G>A g.241519733G>A FH(NM_000143.3):c.-11C>T - FH_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.-11C>T r.(?) p.(=) - - - likely benign g.241683033G>A g.241519733G>A FH(NM_000143.3):c.-11C>T - FH_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/? - c.? r.? p.? - - - VUS g.? - P131R/exon 2 splice variant - FH_000012 - PubMed: Pollard - - Germline - - - 0 - Jean-Pierre Bayley
-?/. - c.7C>G r.(?) p.(Arg3Gly) - - - likely benign g.241683016G>C g.241519716G>C FH(NM_000143.3):c.7C>G (p.(Arg3Gly), p.R3G) - FH_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.7C>G r.(?) p.(Arg3Gly) - - - VUS g.241683016G>C g.241519716G>C FH(NM_000143.3):c.7C>G (p.(Arg3Gly), p.R3G) - FH_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.7C>G r.(?) p.(Arg3Gly) - - - VUS g.241683016G>C g.241519716G>C FH(NM_000143.3):c.7C>G (p.(Arg3Gly), p.R3G) - FH_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.7C>G r.(?) p.(Arg3Gly) - - - VUS g.241683016G>C g.241519716G>C FH(NM_000143.3):c.7C>G (p.(Arg3Gly), p.R3G) - FH_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.33G>C r.(?) p.(Ser11=) - - - likely benign g.241682990C>G g.241519690C>G - - FH_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.53C>T r.(?) p.(Pro18Leu) - - - benign g.241682970G>A g.241519670G>A FH(NM_000143.3):c.53C>T (p.P18L) - FH_000236 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/-? 1 c.105G>A r.(=) p.(=) - - - VUS g.241682918C>T g.241519618C>T c.-25G>A - FH_000133 FH enzymatic activity normal - - - Unknown - - - 0 - Audrey Remenieras
?/. - c.132G>A r.(?) p.(Met44Ile) - - - VUS g.241682891C>T g.241519591C>T - - FH_000241 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs863223982 Germline - 1/2791 individuals - 0 - Mohammed Faruq
-?/. - c.132+16C>A r.(=) p.(=) - - - likely benign g.241682875G>T g.241519575G>T FH(NM_000143.3):c.132+16C>A - FH_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.132+20C>T r.(=) p.(=) - - - likely benign g.241682871G>A g.241519571G>A FH(NM_000143.3):c.132+20C>T - FH_000235 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/-? 1i c.132+71C>A r.(=) p.(=) - - - benign g.241682820G>T g.241519520G>T p.? - FH_000141 FH enzymatic activity normal - - - Unknown - - - 0 - Audrey Remenieras
-/-? 1i c.132+71C>A r.(=) p.(=) - - - benign g.241682820G>T g.241519520G>T p.? - FH_000141 FH enzymatic activity: normal - - - Unknown - - - 0 - Audrey Remenieras
+?/+ 2 c.139C>A r.(?) p.(Gln47Lys) - - - likely pathogenic g.241680610G>T g.241517310G>T Gln4X, Q4X - FH_000003 not found in 300 chrom PubMed: Tomlinson, PubMed: Chuang - - Germline - - - 0 - Jean-Pierre Bayley
+?/+ 2 c.139C>A r.(?) p.(Gln47Lys) - - - likely pathogenic g.241680610G>T g.241517310G>T Gln4X, Q4X - FH_000004 not found in 300 chrom PubMed: Tomlinson, PubMed: Chuang - - Germline - - - 0 - Jean-Pierre Bayley
+/. - c.139C>T r.(?) p.(Gln47*) - - - pathogenic g.241680610G>A g.241517310G>A - - FH_000161 - - - - Germline - - - 0 - Andreas Laner
?/+? 2 c.152G>A r.(?) p.(Arg51Gln) - - - VUS g.241680597C>T g.241517297C>T Arg8Glu - FH_000005 - PubMed: Kiuru - - Somatic - - - 0 - Jean-Pierre Bayley
?/. 2 c.157G>A r.(?) p.(Glu53Lys) damaging - - VUS g.241680592C>T g.241517292C>T - - FH_000176 - PubMed: Clark - - Unknown - - - 0 - Jean-Pierre Bayley
+?/+ 2 c.157G>T r.(?) p.(Glu53*) - - - likely pathogenic g.241680592C>A g.241517292C>A - - FH_000115 - PubMed: Smit - - Germline - - - 0 - Jean-Pierre Bayley
+/. - c.157G>T r.(?) p.(Glu53Ter) - - - pathogenic g.241680592C>A g.241517292C>A FH(NM_000143.3):c.157G>T (p.E53*) - FH_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. - c.157G>T r.(?) p.(Glu53Ter) - - - pathogenic g.241680592C>A g.241517292C>A FH(NM_000143.3):c.157G>T (p.E53*) - FH_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/+ 2 c.178del r.(?) p.(Leu60*) - - - likely pathogenic g.241680571del g.241517271del 1-bp del. in codon 17 - FH_000006 UK, not found in 300 chrom PubMed: Tomlinson, PubMed: Alam - - Germline - - - 0 - Jean-Pierre Bayley
+?/+ 2_3 c.195_268del r.(?) p.(Lys66Profs*4) - - - likely pathogenic g.241677015_241680556del g.241513715_241517256del 66del74bases - FH_000007 - PubMed: Coughlin - - De novo - - - 0 - Jean-Pierre Bayley
?/. 2 c.206G>T r.(?) p.(Gly69Val) - - - VUS g.241680543C>A g.241517243C>A G69V - FH_000175 - PubMed: Laufer - - Unknown - - - 0 - Jean-Pierre Bayley
-?/. - c.217G>A r.(?) p.(Val73Met) - - - likely benign g.241680532C>T g.241517232C>T - - FH_000234 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 2 c.221del r.(?) p.(Arg74Asnfs*4) - - - pathogenic g.241680528del g.241517228del p.Arg31fs - FH_000146 - - - - Unknown - - - 0 - Audrey Remenieras
+?/+ 2 c.233del r.(?) p.(Asn78Thrfs*7) 0.01 - - likely pathogenic g.241680517del g.241517217del 233delA/N78fsX85 - FH_000008 - PubMed: Badeloe - - Germline - - - 0 - Jean-Pierre Bayley
+?/+ 2 c.239dup r.(?) p.(Ile81Aspfs*14) - - - likely pathogenic g.241680511dup g.241517211dup 111insA/K37 Frameshift - FH_000009 - PubMed: Wei - - Germline - - - 0 - Jean-Pierre Bayley
+/+ 2 c.256_257del r.(?) p.(Glu86Thrfs*8) - - - pathogenic g.241680493_241680494del g.241517193_241517194del p.Glu43fs - FH_000147 FH enzymatic activity 43% - - - Unknown - - - 0 - Audrey Remenieras
?/. - c.260G>A r.(?) p.(Arg87His) - - - VUS g.241680489C>T g.241517189C>T FH(NM_000143.3):c.260G>A (p.R87H) - FH_000233 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.263T>A r.(?) p.(Met88Lys) - - - VUS g.241680486A>T g.241517186A>T - - FH_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/+ 2i c.267+1G>C r.spl? p.(=) - - - VUS g.241680481C>G g.241517181C>G (IVS2) 138+1G>C - FH_000010 - PubMed: Wei - - Germline - - - 0 - Jean-Pierre Bayley
+/+ 2i c.267+1_267+10del r.spl? p.(=) - - - pathogenic g.241680474_241680483del g.241517174_241517183del p.? - FH_000137 FH enzymatic activity 51% - - - Unknown - - - 0 - Audrey Remenieras
-/- 2i c.267+223A>T r.(=) p.(=) - - - benign g.241680259T>A g.241516959T>A IVS2 222A/T - FH_000011 - PubMed: Ylisaukko-oja - - Germline - - - 0 - Jean-Pierre Bayley
?/-? 2i c.268-87A>C r.(=) p.(=) - - - VUS g.241677100T>G g.241513800T>G p.? - FH_000144 - - - - Unknown - - - 0 - Audrey Remenieras
-/. - c.268-22A>T r.(=) p.(=) - - - benign g.241677035T>A g.241513735T>A - - FH_000160 in combination with p.Arg233His (path. Mut.) - - rs2275162 Germline - - - 0 - Andreas Laner
-/. - c.268-22A>T r.(=) p.(=) - - - benign g.241677035T>A g.241513735T>A FH(NM_000143.3):c.268-22A>T - FH_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.268-22A>T r.(=) p.(=) - - - benign g.241677035T>A g.241513735T>A FH(NM_000143.3):c.268-22A>T - FH_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.268-22A>T r.(=) p.(=) - - - benign g.241677035T>A g.241513735T>A FH(NM_000143.3):c.268-22A>T - FH_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/+ 2i c.268-2A>G r.spl? p.(=) - - - VUS g.241677015T>C g.241513715T>C (IVS2) A>G -2 IVS1 - FH_000013 - PubMed: Alam - - Germline - - - 0 - Jean-Pierre Bayley
+/. - c.268-1G>C r.spl? p.? - - - pathogenic g.241677014C>G g.241513714C>G - - FH_000214 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/+ 3 c.276del r.(?) p.(Ile93Leufs*7) - - - pathogenic g.241677006del g.241513706del p.Ile50fs - FH_000134 FH enzymatic activity 41% - - - Unknown - - - 0 - Audrey Remenieras
?/. - c.290G>A r.(?) p.(Gly97Asp) - - - VUS g.241676991C>T g.241513691C>T - - FH_000213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/+ 3 c.301C>T r.(?) p.(Arg101*) - - - likely pathogenic g.241676980G>A g.241513680G>A Arg58X, R58X, AAAins435 - FH_000014 UK, USA, not found in 620 chrom PubMed: Tomlinson, PubMed: Wei - - Germline - - - 0 - Jean-Pierre Bayley
+?/+ 3 c.301C>T r.(?) p.(Arg101*) - - - likely pathogenic g.241676980G>A g.241513680G>A Arg58X, R58X, AAAins435 - FH_000014 UK, USA, not found in 620 chrom PubMed: Tomlinson, PubMed: Wei - - Germline - - - 0 - Jean-Pierre Bayley
+?/+ 3 c.301C>T r.(?) p.(Arg101*) - - - likely pathogenic g.241676980G>A g.241513680G>A Arg58X, R58X, AAAins435 - FH_000014 UK, USA, not found in 620 chrom PubMed: Tomlinson, PubMed: Wei - - Germline - - - 0 - Jean-Pierre Bayley
+?/+ 3 c.301C>T r.(?) p.(Arg101*) - - - likely pathogenic g.241676980G>A g.241513680G>A Arg58X, R58X, AAAins435 - FH_000014 UK, USA, not found in 620 chrom PubMed: Tomlinson, PubMed: Wei - - Germline - - - 0 - Jean-Pierre Bayley
+?/+ 3 c.301C>T r.(?) p.(Arg101*) - - - likely pathogenic g.241676980G>A g.241513680G>A Arg58X, R58X, AAAins435 - FH_000014 UK, USA, not found in 620 chrom PubMed: Tomlinson, PubMed: Wei - - Germline - - - 0 - Jean-Pierre Bayley
+?/+ 3 c.301C>T r.(?) p.(Arg101*) - - - likely pathogenic g.241676980G>A g.241513680G>A Arg58X, R58X, AAAins435 - FH_000014 UK, USA, not found in 620 chrom PubMed: Tomlinson, PubMed: Wei - - Germline - - - 0 - Jean-Pierre Bayley
+?/+ 3 c.301C>T r.(?) p.(Arg101*) - - - likely pathogenic g.241676980G>A g.241513680G>A Arg58X, R58X, AAAins435 - FH_000014 UK, USA, not found in 620 chrom PubMed: Tomlinson, PubMed: Wei - - Germline - - - 0 - Jean-Pierre Bayley
+?/+ 3 c.301C>T r.(?) p.(Arg101*) - - - likely pathogenic g.241676980G>A g.241513680G>A Arg58X, R58X, AAAins435 - FH_000014 UK, USA, not found in 620 chrom PubMed: Pollard - - Germline - - - 0 - Jean-Pierre Bayley
+/+ 3 c.301C>T r.(?) p.(Arg101*) - - - pathogenic g.241676980G>A g.241513680G>A p.Arg58X - FH_000014 FH enzymatic activity reduced PubMed: Pithukpakorn 2006 - - Unknown - - - 0 - Audrey Remenieras
+/. - c.301C>T r.(?) p.(Arg101Ter) - - - pathogenic g.241676980G>A g.241513680G>A - - FH_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/+? 3 c.302G>C r.(?) p.(Arg101Pro) - - - VUS g.241676979C>G g.241513679C>G 173 CGA>CCA R58P - FH_000015 - PubMed: Chan, PubMed: Heinritz - - Germline - - - 0 - Jean-Pierre Bayley
?/. - c.308C>T r.(?) p.(Ala103Val) - - - VUS g.241676973G>A g.241513673G>A FH(NM_000143.3):c.308C>T (p.A103V) - FH_000232 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/? 3 c.309C>T r.(=) p.(=) - - - VUS g.241676972G>A g.241513672G>A 309C>T (Ala103Ala) - FH_000016 - PubMed: Barker - rs10926501 Germline - - - 0 - Jean-Pierre Bayley
-/-? 3 c.309C>T r.(=) p.(=) - - - benign g.241676972G>A g.241513672G>A p.Ala60Ala - FH_000016 - - - rs10926501 Unknown - - - 0 - Audrey Remenieras
-/-? 3 c.309C>T r.(=) p.(=) - - - benign g.241676972G>A g.241513672G>A p.Ala60Ala - FH_000016 Fh activity : normal - - rs10926501 Unknown - - - 0 - Audrey Remenieras
-/. - c.309C>T r.(?) p.(Ala103=) - - - benign g.241676972G>A g.241513672G>A FH(NM_000143.3):c.309C>T (p.A103=) - FH_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.309C>T r.(?) p.(Ala103=) - - - benign g.241676972G>A g.241513672G>A FH(NM_000143.3):c.309C>T (p.A103=) - FH_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/+? 3 c.320A>C r.(?) p.(Asn107Thr) - - - VUS g.241676961T>G g.241513661T>G Asn64Thr, N64T - FH_000017 UK, not found in 300 chrom PubMed: Tomlinson, PubMed: Alam, PubMed: Carvajal-Carmona - - Germline - - - 0 - Jean-Pierre Bayley
?/+? 3 c.320A>C r.(?) p.(Asn107Thr) - - - VUS g.241676961T>G g.241513661T>G Asn64Thr, N64T - FH_000017 UK, not found in 300 chrom PubMed: Tomlinson, PubMed: Alam, PubMed: Carvajal-Carmona - - Germline - - - 0 - Jean-Pierre Bayley
?/+? 3 c.320A>C r.(?) p.(Asn107Thr) - - - VUS g.241676961T>G g.241513661T>G Asn64Thr, N64T - FH_000017 UK, not found in 300 chrom PubMed: Tomlinson, PubMed: Alam, PubMed: Carvajal-Carmona - - Germline - - - 0 - Jean-Pierre Bayley
?/+? 3 c.320A>C r.(?) p.(Asn107Thr) - - - VUS g.241676961T>G g.241513661T>G Asn64Thr, N64T - FH_000017 UK, not found in 300 chrom PubMed: Tomlinson, PubMed: Alam, PubMed: Carvajal-Carmona - - Germline - - - 0 - Jean-Pierre Bayley
?/+? 3 c.320A>C r.(?) p.(Asn107Thr) - - - VUS g.241676961T>G g.241513661T>G Asn64Thr, N64T - FH_000017 UK, not found in 300 chrom PubMed: Tomlinson, PubMed: Alam, PubMed: Carvajal-Carmona - - Germline - - - 0 - Jean-Pierre Bayley
?/+? 3 c.320A>C r.(?) p.(Asn107Thr) - - - VUS g.241676961T>G g.241513661T>G Asn64Thr, N64T - FH_000017 UK, not found in 300 chrom PubMed: Tomlinson, PubMed: Alam, PubMed: Carvajal-Carmona - - Germline - - - 0 - Jean-Pierre Bayley
?/+? 3 c.320A>C r.(?) p.(Asn107Thr) - - - VUS g.241676961T>G g.241513661T>G Asn64Thr, N64T - FH_000017 UK, not found in 300 chrom PubMed: Tomlinson, PubMed: Alam, PubMed: Carvajal-Carmona - - Germline - - - 0 - Jean-Pierre Bayley
?/+? 3 c.320A>C r.(?) p.(Asn107Thr) - - - VUS g.241676961T>G g.241513661T>G Asn64Thr, N64T - FH_000017 UK, not found in 300 chrom PubMed: Tomlinson, PubMed: Alam, PubMed: Carvajal-Carmona - - Germline - - - 0 - Jean-Pierre Bayley
?/+? 3 c.320A>C r.(?) p.(Asn107Thr) - - - VUS g.241676961T>G g.241513661T>G Asn64Thr, N64T - FH_000017 UK, not found in 300 chrom PubMed: Tomlinson, PubMed: Alam, PubMed: Carvajal-Carmona - - Germline - - - 0 - Jean-Pierre Bayley
+?/. - c.320A>T r.(?) p.(Asn107Ile) - - - likely pathogenic g.241676961T>A g.241513661T>A - - FH_000217 - - - - Germline/De novo (untested) - - - 0 - Gemeinschaftspraxis für Humangenetik Dresden
+/+ 3 c.349G>C r.(?) p.(Ala117Pro) - - - pathogenic g.241676932C>G g.241513632C>G Ala74Pro - FH_000018 UK, not found in 300 chrom PubMed: Tomlinson - - Germline - - - 0 - Jean-Pierre Bayley
+/+ 3 c.349G>C r.(?) p.(Ala117Pro) - - - pathogenic g.241676932C>G g.241513632C>G p.Ala74Pro - FH_000018 Fh enzymatic activity 41% - - - Unknown - - - 0 - Audrey Remenieras
+/+ 3 c.349G>C r.(?) p.(Ala117Pro) - - - pathogenic g.241676932C>G g.241513632C>G Ala74Pro - FH_000018 UK, not found in 300 chrom - - - Unknown - - - 0 - Audrey Remenieras
+/+ 3 c.349G>C r.(?) p.(Ala117Pro) 0.42 - - pathogenic g.241676932C>G g.241513632C>G Ala74Pro - FH_000018 UK, not found in 300 chrom - - - Unknown - - - 0 - Audrey Remenieras
+/+ 3 c.349G>C r.(?) p.(Ala117Pro) 0 - - pathogenic g.241676932C>G g.241513632C>G Ala74Pro - FH_000018 UK, not found in 300 chrom - - - Unknown - - - 0 - Audrey Remenieras
+/+ 3 c.349G>C r.(?) p.(Ala117Pro) 0 - - pathogenic g.241676932C>G g.241513632C>G Ala74Pro - FH_000018 UK, not found in 300 chrom - - - Unknown - - - 0 - Audrey Remenieras
+/+ 3 c.349G>C r.(?) p.(Ala117Pro) 0 - - pathogenic g.241676932C>G g.241513632C>G p.Ala74Pro - FH_000018 Fh enzymatic activity 41% - - - Unknown - - - 0 - Audrey Remenieras
+/+ 3 c.376_378+1delinsA r.spl? p.? 1 - - pathogenic g.241676902_241676905delinsT g.241513602_241513605delinsT p.Glu83fs - FH_000145 FH enzymatic activity 55%. Splicesite mutation. - - - Unknown - - - 0 - Audrey Remenieras
+/+ 3 c.376_378+1delinsA r.spl? p.? - - - pathogenic g.241676902_241676905delinsT g.241513602_241513605delinsT p.Glu83fs - FH_000145 FH enzymatic activity 55%. Splicesite mutation. - - - Unknown - - - 0 - Audrey Remenieras
+/. - c.378G>C r.(?) p.(Glu126Asp) - - - pathogenic g.241676903C>G g.241513603C>G - - FH_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/+? 3i c.378+1del r.spl? p.(=) - - - likely pathogenic g.241676903del g.241513603del IVS3+1delG, Splice site - FH_000022 - PubMed: Badeloe - - Germline - - - 0 - Jean-Pierre Bayley
+/. - c.378+2T>C r.spl? p.? - - - pathogenic g.241676901A>G g.241513601A>G - - FH_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.378+145G>A r.(=) p.(=) - - - benign g.241676758C>T g.241513458C>T FH(NM_000143.3):c.378+145G>A - FH_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.379-49G>A r.(=) p.(=) - - - likely benign g.241675492C>T g.241512192C>T - - FH_000231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/- 3i c.379-22A>T r.(=) p.(=) - - - VUS g.241675465T>A g.241512165T>A (IVS3) IVS3-22A>T - FH_000021 - PubMed: Barker - - Germline - - - 0 - Jean-Pierre Bayley
-?/. - c.379-15A>T r.(=) p.(=) - - - - g.241675458T>A - - - FH_000245 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+? 3i c.379-2A>G r.spl? p.(=) - - - pathogenic g.241675445T>C g.241512145T>C p.? - FH_000124 FH enzymatic activity 53% - - - Unknown - - - 0 - Audrey Remenieras
+/+? 3i c.379-2A>G r.spl? p.(=) - - - pathogenic g.241675445T>C g.241512145T>C p.? - FH_000124 FH enzymatic activity 50% - - - Unknown - - - 0 - Audrey Remenieras
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