All transcript variants in gene SDHC

This database is one of the TCA cycle gene variant databases
Information The variants shown are described using the NM_003001.3 transcript reference sequence.

116 entries on 2 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     
+/. - c.-4559G>A pathogenic r.(?) p.(=) - - g.161279637G>A - MPZ(NM_000530.6):c.59C>T (p.S20F) - MPZ_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.-4524G>A benign r.(?) p.(=) - - g.161279672G>A - MPZ(NM_000530.6):c.24C>T (p.=) - MPZ_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.-4485_-4480dup likely benign r.(?) p.(=) - - g.161279711_161279716dup - MPZ(NM_000530.6):c.-5_-4insTGCCCC - MPZ_000213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 c.-118_-117del - r.(=) p.(=) - - g.161284078_161284079delAG g.161314288_161314289del c.[-118_-117delAG];[=] - SDHC_000062 VUS PubMed: Rattenberry - - Unknown - - - 0 - Jean-Pierre Bayley
-/. - c.-38G>A benign r.(?) p.(=) - - g.161284158G>A - SDHC(NM_003001.3):c.-38G>A (p.=) - MPZ_000214 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/+ _1 c.(?_-30)_(20+1_21-1)del - r.spl? p.? - - g.(?_161284166)_(161284216_161293403)del - exon 1 deletion - SDHC_000043 - PubMed: Burnichon - - Germline - - - 0 - Jean-Pierre Bayley
?/- 1 c.-12C>T - r.(=) p.(=) - - g.161284184C>T g.161314394C>T Promoter SNP - SDHC_000005 Reported as Promoter Polymorphism PubMed: Bauters - - Germline - - - 0 - Jean-Pierre Bayley
?/+ 1 c.1A>G - r.? p.? - - g.161284196A>G g.161314406A>G 1A/G M1V/loss of start codon - SDHC_000006 - PubMed: Schiavi - - Germline - - - 0 - Jean-Pierre Bayley
?/+ 1 c.1A>G - r.? p.? - - g.161284196A>G g.161314406A>G p.Met1? - SDHC_000006 - PubMed: Burnichon - - Germline - - - 0 - Jean-Pierre Bayley
+/+ 1 c.2T>A - r.? p.? - - g.161284197T>A g.161314407T>A - - SDHC_000022 - PubMed: Neumann - - Germline - - - 0 - Jean-Pierre Bayley
+/? 1 c.2T>A - r.? p.? - - g.161284197T>A g.161314407T>A - - SDHC_000022 - - - - Unknown - - - 0 - Rita Domingues
?/+ 1 c.3G>A - r.? p.? - - g.161284198G>A g.161314408G>A G-->A Start codon ATG - SDHC_000001 - PubMed: Niemann, PubMed: Neumann, PubMed: Malinoc - - Germline - - - 0 - Jean-Pierre Bayley
?/. 1 c.6del - r.(?) p.(Ala3Argfs*4) - - g.161284201delT g.161314411del - - SDHC_000063 - PubMed: Miettinen - - Unknown - - - 0 - Jean-Pierre Bayley
+?/+? - c.6del - r.(?) p.(Ala3Argfs*4) - - g.161284201del g.161314411del - - SDHC_000063 SDHB IHC Neg, SDHA IHC Pos. Carney triad with ganglioneuroma PubMed: Boikos - - Unknown ? - - 0 - Jean-Pierre Bayley
?/. 1 c.8C>T VUS r.(?) p.(Ala3Val) 0.03 missense g.161284203C>T g.161314413C>T - - SDHC_000064 - PubMed: Lefebvre - - Unknown - - - 0 - Jean-Pierre Bayley
?/. 1i_3i c(.20+1_21-1)_(179+1_180-1)del - r.(?) p.(Arg7_Tyr59del) - - g.(161284216_161293403)_(161298288_161310383)del - c.20-? 180-?del - SDHC_000065 Deletion of chromosome 3 & 4 PubMed: Else - - Unknown - - - 0 - Jean-Pierre Bayley
?/+? 1i c.20+2T>G - r.spl? p.? - - g.161284217T>G g.161314427T>G IVS1+2A>C - SDHC_000016 - PubMed: Fakhry - - Germline - - - 0 - Jean-Pierre Bayley
?/- 1i c.20+11_20+12dup - r.(=) p.(=) - - g.161284226_161284227dup g.161314436_161314437dup - - SDHC_000032 Allelic freq controls 11/200; patients 63/420 PubMed: Burnichon - - Germline - - - 0 - Jean-Pierre Bayley
-/. - c.20+11_20+12dup benign r.(=) p.(=) - - g.161284226_161284227dup - SDHC(NM_003001.3):c.20+13delGinsTGG - SDHC_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.20+11_20+12dup benign r.(=) p.(=) - - g.161284226_161284227dup - SDHC:NM_003001.3:c.20+11_20+12dup (=) - SDHC_000032 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/- 1i c.20+13_20+14insTG - r.(=) p.(=) - - g.161284228_161284229insTG g.161314438_161314439insTG IVS1+13insTG - SDHC_000010 - Garcia-Rostan - - Germline - 12/192 (6.3%) - 0 - Jean-Pierre Bayley
?/-? 1i c.20+82T>C - r.(=) p.(=) - - g.161284297T>C g.161314507T>C - - SDHC_000033 Allelic freq: controls 10/156; patients 9/420 PubMed: Burnichon - rs11265589 Germline - - - 0 - Jean-Pierre Bayley
-/. - c.20+82T>C benign r.(=) p.(=) - - g.161284297T>C - sdhc(NM_003001.3):c.20+82T>C (p.?) - SDHC_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/-? 1i c.21-96C>T - r.(=) p.(=) - - g.161293308C>T g.161323518C>T - - SDHC_000036 Allelic freq: controls 17/200; patients 68/428 PubMed: Burnichon - rs4255403 Germline - - - 0 - Jean-Pierre Bayley
?/+? 1i c.21-2A>C - r.spl? p.(=) - - g.161293402A>C g.161323612A>C Splicesite - SDHC_000035 - PubMed: Burnichon - - Germline - - - 0 - Jean-Pierre Bayley
+/+ 2 c.23dup - r.(?) p.(His8Glnfs*12) - - g.161293406dup g.161323616dup - - SDHC_000023 - PubMed: Neumann - - Germline - - - 0 - Jean-Pierre Bayley
?/. - c.31C>T VUS r.(?) p.(Arg11Cys) - - g.161293414C>T - SDHC(NM_003001.3):c.31C>T (p.R11C) - SDHC_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/+ 2 c.39C>A - r.(?) p.(Cys13*) - - g.161293422C>A g.161323632C>A 39 C/A, C13X - SDHC_000007 - PubMed: Schiavi, PubMed: Neumann - - Germline - - - 0 - Jean-Pierre Bayley
+?/+ 2 c.43C>T - r.(?) p.(Arg15*) - - g.161293426C>T g.161323636C>T - - SDHC_000013 - PubMed: Pasini, PubMed: Neumann, PubMed: Vandy - - Germline - - - 0 - Jean-Pierre Bayley
?/+ 2 c.43C>T - r.(?) p.(Arg15*) - - g.161293426C>T g.161323636C>T p.Arg15X - SDHC_000013 - PubMed: Burnichon - - Germline - - - 0 - Jean-Pierre Bayley
?/. 2 c.49del - r.(?) p.(His17Thrfs*30) - - g.161293432delC g.161323642del - - SDHC_000066 - PubMed: Buffet - - Unknown - - - 0 - Jean-Pierre Bayley
?/. 2 c.68del - r.(?) p.(Cys23Leufs*24) - - g.161293451delG g.161323661del - - SDHC_000067 - PubMed: Buffet - - Unknown - - - 0 - Jean-Pierre Bayley
?/. 2i c.77+2dup - r.spl? p.(=) - - g.161293462dup g.161323672dup c.[77+2dupT];[=] - SDHC_000049 abnormal mRNA exon 2 skipping, UK, Pathogenic PubMed: Buffet - - Unknown - - - 0 - Jean-Pierre Bayley
-?/. - c.77+3A>G likely benign r.spl? p.? - - g.161293463A>G - SDHC(NM_003001.3):c.77+3A>G - SDHC_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/-? 2i c.77+36T>A - r.(=) p.(=) - - g.161293496T>A g.161323706T>A IVS2 - SDHC_000012 No predicted splice site change, not in dbSNP - - - Unknown - - - 0 - Janneke Weiss
-?/. - c.78-19C>T likely benign r.(=) p.(=) - - g.161298167C>T - SDHC(NM_003001.3):c.78-19C>T - SDHC_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/+ 2i c.78-2A>G - r.spl? p.(=) - - g.161298184A>G g.161328394A>G - - SDHC_000017 Proven exon 3 skipping, adrenal pheo & EA-PGL PubMed: Peczkowska, PubMed: Neumann - - Germline - - - 0 - Jean-Pierre Bayley
?/. 2i_3i c.(77+1_78-1)_(179+1_180-1)del - r.(?) p.(Ala27_Ser60del) - - g.(161293461_161298185)_(161298288_161310383)del - - - SDHC_000068 Deletion of exon 3 PubMed: Buffet - - Unknown - - - 0 - Jean-Pierre Bayley
?/+ 1i_2i c.(220+1_221-1)_(77+1_78-1)del - r.? p.? - - g.(161284216_161293403)_(161293461_161298185)del - exon 2 deletion - SDHC_000034 LOH at SDHC locus; SDHB protein expression=0 PubMed: Burnichon - - Germline - - - 0 - Jean-Pierre Bayley
-?/. - c.120G>A likely benign r.(?) p.(=) - - g.161298228G>A - SDHC(NM_003001.3):c.120G>A (p.=) - SDHC_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/+ 3 c.126G>A - r.(?) p.(Trp42*) - - g.161298234G>A g.161328444G>A - - SDHC_000011 - PubMed: Mannelli - - Germline - - - 0 - Jean-Pierre Bayley
+/? 3 c.128A>G - r.(?) p.(Asn43Ser) - - g.161298236A>G g.161328446A>G - - SDHC_000045 - - - - Unknown - - - 0 - Yang Zha
+/? 3 c.148C>T likely pathogenic r.(?) p.(Arg50Cys) 0.00 - g.161298256C>T g.161328466C>T - - SDHC_000024 - PubMed: Neumann - - Germline - - - 0 - Jean-Pierre Bayley
?/. 3 c.148C>T - r.(?) p.(Arg50Cys) - - g.161298256C>T g.161328466C>T c.[148C>T];[=] - SDHC_000024 VUS PubMed: Rattenberry - - Unknown - - - 0 - Jean-Pierre Bayley
?/. 3 c.154_155del - r.(?) p.(Leu52Valfs*45) - - g.161298262_161298263delCT g.161328472_161328473del - - SDHC_000050 - PubMed: Fruhmann - - Unknown - - - 0 - Jean-Pierre Bayley
?/? 3 c.166A>T - r.(?) p.(Ile56Phe) - - g.161298274A>T g.161328484A>T - - SDHC_000025 - PubMed: Neumann - - Germline - - - 0 - Jean-Pierre Bayley
+/? 3 c.173T>C - r.(?) p.(Ile58Thr) - - g.161298281T>C g.161328491T>C - - SDHC_000026 - PubMed: Neumann - - Germline - - - 0 - Jean-Pierre Bayley
+?/. - c.179G>T likely pathogenic r.(?) p.(Ser60Ile) - - g.161298287G>T - SDHC(NM_003001.3):c.179G>T (p.Ser60Ile) - SDHC_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/+ 3i_6 c.(179+1_180-1)_(*2318_?)del - r.spl? p.? - - g.(161298288_161310383)_(161334541)del - Deletion Exon 4-6 - SDHC_000030 - PubMed: Neumann - - Germline - - - 0 - Jean-Pierre Bayley
+?/+ 4 c.183G>A - r.(?) p.(Trp61*) - - g.161310387G>A g.161340597G>A - - SDHC_000019 - PubMed: Garrel - - Germline - - - 0 - Jean-Pierre Bayley
?/-? 4 c.197C>T - r.(?) p.(Ala66Val) - - g.161310401C>T g.161340611C>T - - SDHC_000047 - PubMed: Ni - - Germline - - - 0 - Jean-Pierre Bayley
?/. - c.202T>C VUS r.(?) p.(Ser68Pro) - - g.161310406T>C - SDHC(NM_003001.3):c.202T>C (p.S68P) - SDHC_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.202T>C VUS r.(?) p.(Ser68Pro) - - g.161310406T>C - SDHC(NM_003001.3):c.202T>C (p.S68P) - SDHC_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/? 4 c.210C>G - r.(?) p.(Cys70Trp) - - g.161310414C>G g.161340624C>G - - SDHC_000027 - PubMed: Neumann - - Germline - - - 0 - Jean-Pierre Bayley
?/. 4 c.214C>G - r.(?) p.(Arg72Gly) - - g.161310418C>G g.161340628C>G - - SDHC_000051 - PubMed: Else - - Unknown - - - 0 - Jean-Pierre Bayley
?/+? 4 c.214C>T likely pathogenic r.(?) p.(Arg72Cys) 0.00 - g.161310418C>T g.161340628C>T 214 C/T, R72C - SDHC_000008 functional domain, conserved residue, 0/164 controls PubMed: Bayley, PubMed: Schiavi - - Germline - - - 0 - Jean-Pierre Bayley
?/+? 4 c.214C>T - r.(?) p.(Arg72Cys) - - g.161310418C>T g.161340628C>T p.Arg72Cys - SDHC_000008 - PubMed: Burnichon - - Germline - - - 0 - Jean-Pierre Bayley
?/+? 4 c.215G>A - r.(?) p.(Arg72His) - - g.161310419G>A g.161340629G>A p.Arg72His - SDHC_000037 - PubMed: Burnichon - - Germline - - - 0 - Jean-Pierre Bayley
+/+ 4 c.218_219insA - r.(?) p.(Thr74Hisfs*24) - - g.161310422_161310423insA g.161340632_161340633insA p.Thr74HisfsX24 - SDHC_000028 - PubMed: Neumann - - Germline - - - 0 - Jean-Pierre Bayley
+/+? 4 c.224G>A - r.(?) p.(Gly75Asp) - - g.161310428G>A g.161340638G>A - - SDHC_000029 - PubMed: Neumann - - Germline - - - 0 - Jean-Pierre Bayley
+?/+? 4 c.224G>A - r.(?) p.(Gly75Asp) - - g.161310428G>A g.161340638G>A - - SDHC_000029 SDHB IHC Neg PubMed: Boikos - - Unknown ? - - 0 - Jean-Pierre Bayley
?/-? 4 c.241G>C - r.(?) p.(Gly81Arg) - - g.161310445G>C g.161340655G>C p.Gly81Arg - SDHC_000039 - PubMed: Burnichon - - Germline - - - 0 - Jean-Pierre Bayley
?/-? 4i c.241+74C>T - r.(=) p.(=) - - g.161310519C>T g.161340729C>T c.242+74C>T - SDHC_000038 Allelic freq: controls 16/200; patients 62/428 PubMed: Burnichon - rs9970904 Germline - - - 0 - Jean-Pierre Bayley
+/+ 4i_6 c.242-241_*1978del - r.? p.? - - g.161326226_161334201del g.161356436_161364411del Deletion Exon 5 & 6 - SDHC_000044 - PubMed: Bayley - - Germline - - - 0 - Jean-Pierre Bayley
?/. 4i c.242-22A>G - r.(=) p.(=) - - g.161326445A>G g.161356655A>G - - SDHC_000052 Normal cDNA sequences PubMed: Lefebvre - - Unknown - - - 0 - Jean-Pierre Bayley
?/+ 4i_5i c.(241+1_242-1)_(405+1_406-1)del - r.spl? p.? - - g.(161310446_161326466)_(161326631_161332118)del - Deletion Exon 5 - SDHC_000031 - PubMed: Neumann - - Germline - - - 0 - Jean-Pierre Bayley
-?/-? 5 c.244G>T - r.(?) p.(Val82Phe) - - g.161326469G>T g.161356679G>T - - SDHC_000021 SNP in healthy controls PubMed: López-Jiménez - - Germline - 3/1020 - 0 - Jean-Pierre Bayley
+?/? 5 c.253_255dup - r.(?) p.(Phe85dup) - - g.161326478_161326480dup g.161356688_161356690dup - - SDHC_000020 Predicted splicing defect (in-silico) PubMed: López-Jiménez - - Germline - - - 0 - Jean-Pierre Bayley
?/? 5 c.253_255dup - r.(?) p.(Phe85dup) - - g.161326478_161326480dup g.161356688_161356690dup p.Phe85dup - SDHC_000020 - PubMed: Burnichon - - Germline - - - 0 - Jean-Pierre Bayley
-/. - c.273A>G benign r.(?) p.(=) - - g.161326498A>G - SDHC(NM_003001.3):c.273A>G (p.L91=) - SDHC_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.295T>A likely benign r.(?) p.(Tyr99Asn) - - g.161326520T>A - SDHC(NM_003001.3):c.295T>A (p.Y99N) - SDHC_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.306T>C likely benign r.(?) p.(=) - - g.161326531T>C - SDHC(NM_003001.3):c.306T>C (p.L102=) - SDHC_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.307G>C likely benign r.(?) p.(Val103Leu) - - g.161326532G>C - SDHC(NM_003001.3):c.307G>C (p.V103L) - SDHC_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. 5 c.328C>T Likely benign r.(?) p.(Pro110Ser) 0.53 - g.161326553C>T g.161356763C>T - - SDHC_000053 VUS PubMed: Crona - - Unknown - - - 0 - Jean-Pierre Bayley
-/. - c.354T>C benign r.(?) p.(=) - - g.161326579T>C - SDHC(NM_003001.3):c.354T>C (p.=) - SDHC_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.360T>C likely benign r.(?) p.(=) - - g.161326585T>C - SDHC(NM_003001.3):c.360T>C (p.L120=) - SDHC_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. 5 c.379C>T - r.(?) p.(His127Tyr) Deleterious - g.161326604C>T g.161356814C>T - - SDHC_000054 Align GVGD: Class C65 PubMed: Buffet - - Unknown - - - 0 - Jean-Pierre Bayley
?/. 5 c.379C>T - r.(?) p.(His127Tyr) - - g.161326604C>T g.161356814C>T c.379C>T,p.His127Tyr - SDHC_000054 - PubMed: Else - - Unknown - - - 0 - Jean-Pierre Bayley
?/. 5 c.380A>G likely pathogenic r.(?) p.(His127Arg) 0.00 - g.161326605A>G g.161356815A>G c.[380A>G];[=] - SDHC_000055 VUS PubMed: Miettinen, PubMed: Rattenberry, PubMed: Dénes, PubMed: Gill - - Unknown - - - 0 - Jean-Pierre Bayley
+/. 5 c.397C>T pathogenic r.(?) p.(Arg133*) - - g.161326622C>T g.161356832C>T - - SDHC_000015 - PubMed: Zbuk 2007 - - Germline - - - 0 - James Whitworth
?/+ 5 c.397C>T - r.(?) p.(Arg133*) - - g.161326622C>T g.161356832C>T - - SDHC_000015 - PubMed: Zbuk - - Germline - - - 0 - Jean-Pierre Bayley
?/+ 5 c.397C>T - r.(?) p.(Arg133*) - - g.161326622C>T g.161356832C>T p.Arg133X - SDHC_000015 - PubMed: Burnichon - - Germline - - - 0 - Jean-Pierre Bayley
+/. - c.397C>T pathogenic r.(?) p.(Arg133*) - - g.161326622C>T g.161356832C>T - - SDHC_000015 - Fostira 2019, submitted - - Germline - - - 0 - Florentia Fostira
?/+? 5i c.405+1G>A - r.spl? p.(=) - - g.161326631G>A g.161356841G>A IVS5 - SDHC_000014 - PubMed: Pasini - - Germline - - - 0 - Jean-Pierre Bayley
+?/+? - c.405+1G>A - r.spl? p.? - - g.161326631G>A g.161356841G>A - - SDHC_000014 SDHB IHC Neg, SDHA IHC Pos PubMed: Boikos - - Unknown ? - - 0 - Jean-Pierre Bayley
?/. 5i c.405+1G>C - r.spl? p.(=) - - g.161326631G>C g.161356841G>C - - SDHC_000056 - PubMed: Else - - Unknown - - - 0 - Jean-Pierre Bayley
?/+? 5i c.405+1G>T - r.spl? p.(=) - - g.161326631G>T g.161356841G>T (IVS5), G->T+1 Intron 5, 405+1 G/T - SDHC_000002 aberrant splicing PubMed: Niemann, PubMed: Schiavi - - Germline - - - 0 - Jean-Pierre Bayley
+/. - c.405+1G>T pathogenic r.spl? p.? - - g.161326631G>T - SDHC(NM_003001.3):c.405+1G>T - SDHC_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.405+13G>A likely benign r.(=) p.(=) - - g.161326643G>A - SDHC(NM_003001.3):c.405+13G>A (p.?) - SDHC_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 5i c.405+23C>T - r.(=) p.(=) - - g.161326653C>T g.161356863C>T - - SDHC_000057 - PubMed: Iacobone - - Unknown - - - 0 - Jean-Pierre Bayley
?/? 5i c.405+25T>C - r.(=) p.(=) - - g.161326655T>C g.161356865T>C - - SDHC_000018 - - - - Unknown - - - 0 - Janneke Weiss
?/-? 5i c.405+84G>C - r.(=) p.(=) - - g.161326714G>C g.161356924G>C c.510+84G>C - SDHC_000041 Allelic freq: controls 0/200; patients 1/422 PubMed: Burnichon - - Germline - - - 0 - Jean-Pierre Bayley
?/+ 5i_6 c.406-550_*2318delins4? - r.(?) p.? - - g.161331569_161334541delins4? - 8372 base-pair deletion spanning exon 6 - SDHC_000003 - PubMed: Baysal - - Germline - - - 0 - Jean-Pierre Bayley
-/. - c.406-15_406-14del benign r.(=) p.(=) - - g.161332104_161332105del - SDHC(NM_003001.3):c.406-15_406-14delTT - SDHC_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.406-14del likely benign r.(=) p.(=) - - g.161332105del - SDHC(NM_001035511.1):c.242-14del (p.(=)) - SDHC_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.406-14_406-13del likely benign r.(=) p.(=) - - g.161332105_161332106del - SDHC(NM_003001.3):c.406-14_406-13delTG - SDHC_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.406-13G>T benign r.(=) p.(=) - - g.161332106G>T - SDHC(NM_003001.3):c.406-13G>T - SDHC_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.406-12C>T benign r.(=) p.(=) - - g.161332107C>T - SDHC(NM_003001.3):c.406-12C>T - SDHC_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.406-8G>T likely benign r.(=) p.(=) - - g.161332111G>T - SDHC(NM_003001.3):c.406-8G>T (p.(=)) - SDHC_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.406-8G>T likely benign r.(=) p.(=) - - g.161332111G>T - SDHC(NM_003001.3):c.406-8G>T (p.(=)) - SDHC_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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