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.

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

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Predict/SIFT     

Predicted     

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.? - - 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.? - - 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 - 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 - 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 - 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 - 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 - 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 - g.(?_241660857)_(241683085_?)del - Whole-gene deletion - FH_000001 - PubMed: Gardie - - Germline - - - 0 - Jean-Pierre Bayley
?/- 1 c.-11C>T - r.(=) p.(=) 0 - 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 - g.241683033G>A g.241519733G>A p.? - FH_000002 FH enzymatic activity : normal - - - Unknown - - - 0 - Audrey Remenieras
-?/. - c.-11C>T likely benign r.(?) p.(=) - - g.241683033G>A - FH(NM_000143.3):c.-11C>T (p.?) - FH_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.-11C>T likely benign r.(?) p.(=) - - g.241683033G>A - FH(NM_000143.3):c.-11C>T (p.?) - FH_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/? - c.? - r.? p.? - - g.? - P131R/exon 2 splice variant - FH_000012 - PubMed: Pollard - - Germline - - - 0 - Jean-Pierre Bayley
-?/. - c.7C>G likely benign r.(?) p.(Arg3Gly) - - g.241683016G>C - FH(NM_000143.3):c.7C>G (p.R3G) - FH_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.7C>G VUS r.(?) p.(Arg3Gly) - - g.241683016G>C - FH(NM_000143.3):c.7C>G (p.R3G) - FH_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.7C>G VUS r.(?) p.(Arg3Gly) - - g.241683016G>C - FH(NM_000143.3):c.7C>G (p.R3G) - FH_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.7C>G VUS r.(?) p.(Arg3Gly) - - g.241683016G>C - FH(NM_000143.3):c.7C>G (p.R3G) - FH_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.33G>C likely benign r.(?) p.(=) - - g.241682990C>G - FH(NM_000143.3(FH)):c.33G>C (p.=) - FH_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.53C>T benign r.(?) p.(Pro18Leu) - - g.241682970G>A - FH(NM_000143.3):c.53C>T (p.P18L) - FH_000236 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/-? 1 c.105G>A - r.(=) p.(=) - - g.241682918C>T g.241519618C>T c.-25G>A - FH_000133 FH enzymatic activity normal - - - Unknown - - - 0 - Audrey Remenieras
-?/. - c.132+16C>A likely benign r.(=) p.(=) - - g.241682875G>T - FH(NM_000143.3):c.132+16C>A - FH_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.132+20C>T likely benign r.(=) p.(=) - - g.241682871G>A - FH(NM_000143.3):c.132+20C>T - FH_000235 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/-? 1i c.132+71C>A - r.(=) p.(=) - - g.241682820G>T g.241519520G>T p.? - FH_000141 FH enzymatic activity normal - - - Unknown - - - 0 - Audrey Remenieras
-/-? 1i c.132+71C>A - r.(=) p.(=) - - g.241682820G>T g.241519520G>T p.? - FH_000141 FH enzymatic activity: normal - - - Unknown - - - 0 - Audrey Remenieras
+?/+ 2 c.139C>A - r.(?) p.(Gln47Lys) - - 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) - - 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*) - - g.241680610G>A g.241517310G>A - - FH_000161 - - - - Germline - - - 0 - Andreas Laner
?/+? 2 c.152G>A - r.(?) p.(Arg51Gln) - - g.241680597C>T g.241517297C>T Arg8Glu - FH_000005 - PubMed: Kiuru - - Somatic - - - 0 - Jean-Pierre Bayley
?/. 2 c.157G>A - r.(?) p.(Glu53Lys) damaging - g.241680592C>T g.241517292C>T - - FH_000176 - PubMed: Clark - - Unknown - - - 0 - Jean-Pierre Bayley
+?/+ 2 c.157G>T - r.(?) p.(Glu53*) - - g.241680592C>A g.241517292C>A - - FH_000115 - PubMed: Smit - - Germline - - - 0 - Jean-Pierre Bayley
+/. - c.157G>T pathogenic r.(?) p.(Glu53*) - - g.241680592C>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 pathogenic r.(?) p.(Glu53*) - - g.241680592C>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*) - - 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) - - g.241677013_241680554del g.241513713_241517254del 66del74bases - FH_000007 - PubMed: Coughlin - - De novo - - - 0 - Jean-Pierre Bayley
?/. 2 c.206G>T - r.(?) p.(Gly69Val) - - g.241680543C>A g.241517243C>A G69V - FH_000175 - PubMed: Laufer - - Unknown - - - 0 - Jean-Pierre Bayley
-?/. - c.217G>A likely benign r.(?) p.(Val73Met) - - g.241680532C>T - FH(NM_000143.3):c.217G>A (p.Val73Met) - FH_000234 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+ 2 c.221del - r.(?) p.(Arg74Asnfs*4) - - g.241680528del g.241517228del p.Arg31fs - FH_000146 - - - - Unknown - - - 0 - Audrey Remenieras
+?/+ 2 c.233del - r.(?) p.(Asn78Thrfs*7) 0.01 - g.241680516del g.241517216del 233delA/N78fsX85 - FH_000008 - PubMed: Badeloe - - Germline - - - 0 - Jean-Pierre Bayley
+?/+ 2 c.239dup - r.(?) p.(Ile81Aspfs*14) - - g.241680510dup g.241517210dup 111insA/K37 Frameshift - FH_000009 - PubMed: Wei - - Germline - - - 0 - Jean-Pierre Bayley
+/+ 2 c.256_257del - r.(?) p.(Glu86Thrfs*8) - - g.241680492_241680493del g.241517192_241517193del p.Glu43fs - FH_000147 FH enzymatic activity 43% - - - Unknown - - - 0 - Audrey Remenieras
?/. - c.260G>A VUS r.(?) p.(Arg87His) - - g.241680489C>T - FH(NM_000143.3):c.260G>A (p.R87H) - FH_000233 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/+ 2i c.267+1G>C - r.spl? p.(=) - - 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.(=) - - g.241680472_241680481del g.241517172_241517181del p.? - FH_000137 FH enzymatic activity 51% - - - Unknown - - - 0 - Audrey Remenieras
-/- 2i c.267+223A>T - r.(=) p.(=) - - 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.(=) - - g.241677100T>G g.241513800T>G p.? - FH_000144 - - - - Unknown - - - 0 - Audrey Remenieras
-/. - c.268-22A>T - r.(=) p.(=) - - g.241677035T>A g.241513735T>A - - FH_000160 in combination with p.Arg233His (path. Mut.) - - rs2275162 Germline - - - 0 - Andreas Laner
-/. - c.268-22A>T benign r.(=) p.(=) - - g.241677035T>A - FH(NM_000143.3):c.268-22A>T (p.?) - FH_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.268-22A>T benign r.(=) p.(=) - - g.241677035T>A - FH(NM_000143.3):c.268-22A>T (p.?) - FH_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.268-22A>T benign r.(=) p.(=) - - g.241677035T>A - FH(NM_000143.3):c.268-22A>T (p.?) - FH_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/+ 2i c.268-2A>G - r.spl? p.(=) - - g.241677015T>C g.241513715T>C (IVS2) A>G -2 IVS1 - FH_000013 - PubMed: Alam - - Germline - - - 0 - Jean-Pierre Bayley
+/. - c.268-1G>C pathogenic r.spl? p.? - - g.241677014C>G - FH(NM_000143.3):c.268-1G>C (p.?) - FH_000214 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/+ 3 c.276del - r.(?) p.(Ile93Leufs*7) - - g.241677005del g.241513705del p.Ile50fs - FH_000134 FH enzymatic activity 41% - - - Unknown - - - 0 - Audrey Remenieras
?/. - c.290G>A VUS r.(?) p.(Gly97Asp) - - g.241676991C>T - FH(NM_000143.3):c.290G>A (p.Gly97Asp) - FH_000213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/+ 3 c.301C>T - r.(?) p.(Arg101*) - - 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*) - - 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*) - - 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*) - - 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*) - - 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*) - - 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*) - - 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*) - - 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*) - - g.241676980G>A g.241513680G>A p.Arg58X - FH_000014 FH enzymatic activity reduced PubMed: Pithukpakorn 2006 - - Unknown - - - 0 - Audrey Remenieras
+/. - c.301C>T pathogenic r.(?) p.(Arg101*) - - g.241676980G>A - FH(NM_000143.3):c.301C>T (p.Arg101*) - FH_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/+? 3 c.302G>C - r.(?) p.(Arg101Pro) - - g.241676979C>G g.241513679C>G 173 CGA>CCA R58P - FH_000015 - PubMed: Chan, PubMed: Heinritz - - Germline - - - 0 - Jean-Pierre Bayley
?/. - c.308C>T VUS r.(?) p.(Ala103Val) - - g.241676973G>A - FH(NM_000143.3):c.308C>T (p.A103V) - FH_000232 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/? 3 c.309C>T - r.(=) p.(=) - - 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.(=) - - g.241676972G>A g.241513672G>A p.Ala60Ala - FH_000016 - - - rs10926501 Unknown - - - 0 - Audrey Remenieras
-/-? 3 c.309C>T - r.(=) p.(=) - - g.241676972G>A g.241513672G>A p.Ala60Ala - FH_000016 Fh activity : normal - - rs10926501 Unknown - - - 0 - Audrey Remenieras
-/. - c.309C>T benign r.(?) p.(=) - - g.241676972G>A - FH(NM_000143.3):c.309C>T (p.=) - FH_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.309C>T benign r.(?) p.(=) - - g.241676972G>A - FH(NM_000143.3):c.309C>T (p.=) - FH_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/+? 3 c.320A>C - r.(?) p.(Asn107Thr) - - 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) - - 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) - - 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) - - 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) - - 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) - - 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) - - 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) - - 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) - - 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) - - g.241676961T>A - - - FH_000217 - - - - Germline/De novo (untested) - - - 0 - Gemeinschaftspraxis für Humangenetik Dresden
+/+ 3 c.349G>C - r.(?) p.(Ala117Pro) - - 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) - - 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) - - 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 - 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 - 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 - 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 - 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 - 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.? - - g.241676902_241676905delinsT g.241513602_241513605delinsT p.Glu83fs - FH_000145 FH enzymatic activity 55%. Splicesite mutation. - - - Unknown - - - 0 - Audrey Remenieras
+/. - c.378G>C pathogenic r.(?) p.(Glu126Asp) - - g.241676903C>G - FH(NM_000143.3):c.378G>C (p.Glu126Asp) - FH_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/+? 3i c.378+1del - r.spl? p.(=) - - g.241676902del g.241513602del IVS3+1delG, Splice site - FH_000022 - PubMed: Badeloe - - Germline - - - 0 - Jean-Pierre Bayley
+/. - c.378+2T>C pathogenic r.spl? p.? - - g.241676901A>G - FH(NM_000143.2):c.378+2T>C (p.?) - FH_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.378+145G>A benign r.(=) p.(=) - - g.241676758C>T - FH(NM_000143.3):c.378+145G>A - FH_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.379-49G>A likely benign r.(=) p.(=) - - g.241675492C>T - FH(NM_000143.3):c.379-49G>A (p.?) - FH_000231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/- 3i c.379-22A>T - r.(=) p.(=) - - g.241675465T>A g.241512165T>A (IVS3) IVS3-22A>T - FH_000021 - PubMed: Barker - - Germline - - - 0 - Jean-Pierre Bayley
+/+? 3i c.379-2A>G - r.spl? p.(=) - - 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.(=) - - g.241675445T>C g.241512145T>C p.? - FH_000124 FH enzymatic activity 50% - - - Unknown - - - 0 - Audrey Remenieras
+/+? 3i c.379-2A>G - r.spl? p.(=) - - g.241675445T>C g.241512145T>C p.? - FH_000124 FH enzymatic activity 50% - - - Unknown - - - 0 - Audrey Remenieras
+/. - c.379-1G>A pathogenic r.spl? p.? - - g.241675444C>T - FH(NM_000143.3):c.379-1G>A (p.?) - FH_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/+? 4 c.395T>C - r.(?) p.(Leu132Ser) - - g.241675427A>G g.241512127A>G L89S - FH_000023 not in 320 chrom, reduced FH activity PubMed: Wei - - Germline - - - 0 - Jean-Pierre Bayley
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