All transcript variants in gene PMM2

Information The variants shown are described using the NM_000303.2 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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.1A>G r.(?) p.M1V - pathogenic g.8891740A>G g.8797883A>G - - PMM2_000029 - - - - Unknown - - BmgBI+;FatI- 0 - Gert Matthijs
+/+ 1 c.24del r.(?) p.(Cys9Alafs*27) - pathogenic g.8891763del g.8797906del - - PMM2_000008 - - - - Unknown - - Cac8I+ 0 - Gert Matthijs
+/+ 1 c.24del r.(?) p.(Cys9Alafs*27) - pathogenic g.8891763del g.8797906del - - PMM2_000008 - - - - Unknown - - Cac8I+ 0 - Gert Matthijs
+/+ 1 c.26G>A r.(?) p.(Cys9Tyr) - pathogenic g.8891765G>A g.8797908G>A - - PMM2_000022 - - - - Unknown - - - 0 - Gert Matthijs
+/+ 1 c.44G>A r.(?) p.(Gly15Glu) - pathogenic g.8891783G>A g.8797926G>A - - PMM2_000017 - - - - Unknown - - BsaI+;BccI- 0 - Gert Matthijs
+/+ 1 c.44G>A r.(?) p.(Gly15Glu) - pathogenic g.8891783G>A g.8797926G>A - - PMM2_000017 - - - - Unknown - - BsaI+;BccI- 0 - Gert Matthijs
+/+ 1 c.53C>G r.(?) p.(Thr18Ser) - pathogenic g.8891792C>G g.8797935C>G - - PMM2_000038 - - - - Unknown - - DdeI+;HphI- 0 - Gert Matthijs
+/. - c.61C>G r.(?) p.(Arg21Gly) - pathogenic g.8891800C>G g.8797943C>G PMM2(NM_000303.2):c.61C>G (p.R21G) - PMM2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.61C>G r.(?) p.(Arg21Gly) - pathogenic g.8891800C>G g.8797943C>G PMM2(NM_000303.2):c.61C>G (p.R21G) - PMM2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 c.64C>T r.(?) p.(Gln22*) - pathogenic g.8891803C>T g.8797946C>T - - PMM2_000030 - - - - Unknown - - - 0 - Gert Matthijs
?/. - c.67-6A>G r.(=) p.(=) - VUS g.8895650A>G g.8801793A>G - - PMM2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.90C>G r.(?) p.(Asp30Glu) - likely benign g.8895679C>G g.8801822C>G PMM2(NM_000303.2):c.90C>G (p.D30E) - PMM2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.95T>G r.(?) p.(Leu32Arg) - - g.8895684T>G g.8801827T>G - - PMM2_000095 2 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs398123312 Germline - 2/2793 individuals - 0 - Mohammed Faruq
+/+ 2 c.95_96delinsGC r.(?) p.(Leu32Arg) - pathogenic g.8895684_8895685delinsGC g.8801827_8801828delinsGC - - PMM2_000020 - - - - Unknown - - AciI+ 0 - Gert Matthijs
+/+ 2 c.95_96delinsGC r.(?) p.(Leu32Arg) - pathogenic g.8895684_8895685delinsGC g.8801827_8801828delinsGC - - PMM2_000020 - - - - Unknown - - AciI+ 0 - Gert Matthijs
+/+ 2 c.95_96delinsGC r.(?) p.(Leu32Arg) - pathogenic g.8895684_8895685delinsGC g.8801827_8801828delinsGC - - PMM2_000020 - - - - Unknown - - MmeI+ 0 - Gert Matthijs
+/+ 2 c.95_96delinsGC r.(?) p.(Leu32Arg) - pathogenic g.8895684_8895685delinsGC g.8801827_8801828delinsGC - - PMM2_000020 - - - - Unknown - - MmeI+ 0 - Gert Matthijs
+/+ 2 c.95_96delinsGC r.(?) p.(Leu32Arg) - pathogenic g.8895684_8895685delinsGC g.8801827_8801828delinsGC - - PMM2_000020 - - - - Unknown - - AciI+ 0 - Gert Matthijs
+/+ 2 c.124G>A r.(?) p.(Gly42Arg) - pathogenic g.8895713G>A g.8801856G>A - - PMM2_000021 - - - - Unknown - - - 0 - Gert Matthijs
+/+ 2 c.124G>A r.(?) p.(Gly42Arg) - pathogenic g.8895713G>A g.8801856G>A - - PMM2_000021 - - - - Unknown - - - 0 - Gert Matthijs
?/. - c.124G>A r.(?) p.(Gly42Arg) - VUS g.8895713G>A g.8801856G>A - - PMM2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.128T>C r.(?) p.(Val43Ala) - VUS g.8895717T>C g.8801860T>C PMM2(NM_000303.2):c.128T>C (p.V43A) - PMM2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.160dup r.(?) p.(Glu54GlyfsTer6) - pathogenic g.8895749dup g.8801892dup PMM2(NM_000303.2):c.160dupG (p.E54Gfs*6) - PMM2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 2 c.178G>T r.(?) p.(Val60Leu) - pathogenic g.8895767G>T g.8801910G>T - - PMM2_000041 - - - - Unknown - - - 0 - Gert Matthijs
-/. - c.179-15dup r.(=) p.(=) - benign g.8898609dup g.8804752dup PMM2(NM_000303.2):c.179-15dupT - PMM2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.191A>C r.(?) p.(Tyr64Ser) - pathogenic g.8898636A>C g.8804779A>C PMM2(NM_000303.2):c.191A>C (p.Y64S) - PMM2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.193G>T r.(?) p.(Asp65Tyr) - pathogenic g.8898638G>T g.8804781G>T PMM2(NM_000303.2):c.193G>T (p.D65Y) - PMM2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/+ 3 c.193G>T r.(?) p.(Asp65Tyr) - pathogenic g.8898638G>T g.8804781G>T - - PMM2_000019 - - - - Unknown - - - 0 - Gert Matthijs
+/+ 3 c.193G>T r.(?) p.(Asp65Tyr) - pathogenic g.8898638G>T g.8804781G>T - - PMM2_000019 - - - - Unknown - - - 0 - Gert Matthijs
+/+ 3 c.205C>T r.(?) p.(Pro69Ser) - pathogenic g.8898650C>T g.8804793C>T - - PMM2_000026 - - - - Unknown - - Hpy188I+;BslI- 0 - Gert Matthijs
+/+ 3 c.205C>T r.(?) p.(Pro69Ser) - pathogenic g.8898650C>T g.8804793C>T - - PMM2_000026 - - - - Unknown - - Hpy188I+;BslI- 0 - Gert Matthijs
+/+ 3 c.205C>T r.(?) p.(Pro69Ser) - pathogenic g.8898650C>T g.8804793C>T - - PMM2_000026 - - - - Unknown - - Hpy188I+;BslI- 0 - Gert Matthijs
+/. - c.205C>T r.(?) p.(Pro69Ser) - pathogenic g.8898650C>T g.8804793C>T - - PMM2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.248G>A r.(?) p.(Cys83Tyr) - VUS g.8898693G>A g.8804836G>A PMM2(NM_000303.2):c.248G>A (p.C83Y) - PMM2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 3i c.255+2T>C r.(=) p.(=) - pathogenic g.8898702T>C g.8804845T>C IVS3+2T>C - PMM2_000043 - - - - Unknown - - BfuAI+ 0 - Gert Matthijs
+/. - c.255+2T>C r.spl? p.? - pathogenic g.8898702T>C g.8804845T>C - - PMM2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 4 c.278A>C r.(?) p.(Glu93Ala) - pathogenic g.8900195A>C g.8806338A>C - - PMM2_000003 - - - - Unknown - - AciI+;MnlI- 0 - Gert Matthijs
+/+ 4 c.310C>G r.(?) p.(Leu104Val) - pathogenic g.8900227C>G g.8806370C>G - - PMM2_000034 - - - - Unknown - - - 0 - Gert Matthijs
+/+ 4 c.323C>T r.(?) p.(Ala108Val) - pathogenic g.8900240C>T g.8806383C>T - - PMM2_000033 - - - - Unknown - - - 0 - Gert Matthijs
+/+ 4 c.323C>T r.(?) p.(Ala108Val) - pathogenic g.8900240C>T g.8806383C>T - - PMM2_000033 - - - - Unknown - - - 0 - Gert Matthijs
-/. - c.324G>A r.(?) p.(Ala108=) - benign g.8900241G>A g.8806384G>A PMM2(NM_000303.2):c.324G>A (p.A108=) - PMM2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.324G>A r.(?) p.(Ala108=) - benign g.8900241G>A g.8806384G>A PMM2(NM_000303.2):c.324G>A (p.A108=) - PMM2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.324G>A r.(=) p.(=) - - g.8900241G>A g.8806384G>A - - PMM2_000056 conflicting interpretations of pathogenicity; 168 heterozygous; Clinindb (India) Faruq 2020, submtted - rs62031146 Germline - 168/2795 individuals - 0 - Mohammed Faruq
?/. - c.324G>A r.(=) p.(=) - VUS g.8900241G>A g.8806384G>A - - PMM2_000056 conflicting interpretations of pathogenicity; 8 homozygous; Clinindb (India) Faruq 2020, submtted - rs62031146 Germline - 8/2795 individuals - 0 - Mohammed Faruq
+/. - c.338C>T r.(?) p.(Pro113Leu) - pathogenic g.8900255C>T g.8806398C>T PMM2(NM_000303.2):c.338C>T (p.P113L) - PMM2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/+ 4 c.338C>T r.(?) p.(Pro113Leu) - pathogenic g.8900255C>T g.8806398C>T - - PMM2_000013 - - - - Unknown - - AcuI+ 0 - Gert Matthijs
+/+ 4 c.338C>T r.(?) p.(Pro113Leu) - pathogenic g.8900255C>T g.8806398C>T - - PMM2_000013 - - - - Unknown - - AcuI+ 0 - Gert Matthijs
+/+ 4 c.338C>T r.(?) p.(Pro113Leu) - pathogenic g.8900255C>T g.8806398C>T - - PMM2_000013 - - - - Unknown - - AcuI+ 0 - Gert Matthijs
+/+ 4 c.338C>T r.(?) p.(Pro113Leu) - pathogenic g.8900255C>T g.8806398C>T - - PMM2_000013 - - - - Unknown - - AcuI+ 0 - Gert Matthijs
+/+ 4 c.338C>T r.(?) p.(Pro113Leu) - pathogenic g.8900255C>T g.8806398C>T - - PMM2_000013 - - - - Unknown - - AcuI+ 0 - Gert Matthijs
+/+ 4 c.338C>T r.(?) p.(Pro113Leu) - pathogenic g.8900255C>T g.8806398C>T - - PMM2_000013 - - - - Unknown - - AcuI+ 0 - Gert Matthijs
+/+ 4 c.338C>T r.(?) p.(Pro113Leu) - pathogenic g.8900255C>T g.8806398C>T - - PMM2_000013 - - - - Unknown - - AcuI+ 0 - Gert Matthijs
+/+ 4 c.338C>T r.(?) p.(Pro113Leu) - pathogenic g.8900255C>T g.8806398C>T - - PMM2_000013 - - - - Unknown - - AcuI+ 0 - Gert Matthijs
+/+ 4 c.338C>T r.(?) p.(Pro113Leu) - pathogenic g.8900255C>T g.8806398C>T - - PMM2_000013 - - - - Unknown - - AcuI+ 0 - Gert Matthijs
+/. - c.338C>T r.(?) p.(Pro113Leu) - pathogenic g.8900255C>T g.8806398C>T PMM2(NM_000303.2):c.338C>T (p.P113L) - PMM2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/+ 5 c.357C>A r.(?) p.(Phe119Leu) - - g.8904945C>A g.8811088C>A - - PMM2_000007 - - - - Unknown ? - - 0 - Anke Rietveld
?/+ 5 c.357C>A r.(?) p.(Phe119Leu) - - g.8904945C>A g.8811088C>A - - PMM2_000007 - - - - Unknown ? - - 0 - Anke Rietveld
+/. - c.357C>A r.(?) p.(Phe119Leu) - pathogenic g.8904945C>A g.8811088C>A PMM2(NM_000303.2):c.357C>A (p.F119L) - PMM2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. - c.357C>A r.(?) p.(Phe119Leu) - pathogenic g.8904945C>A g.8811088C>A PMM2(NM_000303.2):c.357C>A (p.F119L) - PMM2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
+/. - c.357C>A r.(?) p.(Phe119Leu) - pathogenic g.8904945C>A g.8811088C>A PMM2(NM_000303.2):c.357C>A (p.F119L) - PMM2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) - pathogenic g.8904945C>A g.8811088C>A - - PMM2_000007 - - - - Unknown - - - 0 - Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) - pathogenic g.8904945C>A g.8811088C>A - - PMM2_000007 - - - - Unknown - - - 0 - Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) - pathogenic g.8904945C>A g.8811088C>A - - PMM2_000007 - - - - Unknown - - - 0 - Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) - pathogenic g.8904945C>A g.8811088C>A - - PMM2_000007 - - - - Unknown - - - 0 - Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) - pathogenic g.8904945C>A g.8811088C>A - - PMM2_000007 - - - - Unknown - - - 0 - Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) - pathogenic g.8904945C>A g.8811088C>A - - PMM2_000007 - - - - Unknown - - - 0 - Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) - pathogenic g.8904945C>A g.8811088C>A - - PMM2_000007 - - - - Unknown - - - 0 - Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) - pathogenic g.8904945C>A g.8811088C>A - - PMM2_000007 - - - - Unknown - - - 0 - Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) - pathogenic g.8904945C>A g.8811088C>A - - PMM2_000007 - - - - Unknown - - - 0 - Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) - pathogenic g.8904945C>A g.8811088C>A - - PMM2_000007 - - - - Unknown - - - 0 - Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) - pathogenic g.8904945C>A g.8811088C>A - - PMM2_000007 - - - - Unknown - - - 0 - Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) - pathogenic g.8904945C>A g.8811088C>A - - PMM2_000007 - - - - Unknown - - - 0 - Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) - pathogenic g.8904945C>A g.8811088C>A - - PMM2_000007 - - - - Unknown - - - 0 - Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) - pathogenic g.8904945C>A g.8811088C>A - - PMM2_000007 - - - - Unknown - - - 0 - Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) - pathogenic g.8904945C>A g.8811088C>A - - PMM2_000007 - - - - Unknown - - - 0 - Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) - pathogenic g.8904945C>A g.8811088C>A - - PMM2_000007 - - - - Unknown - - - 0 - Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) - pathogenic g.8904945C>A g.8811088C>A - - PMM2_000007 - - - - Unknown - - - 0 - Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) - pathogenic g.8904945C>A g.8811088C>A - - PMM2_000007 - - - - Unknown - - - 0 - Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) - pathogenic g.8904945C>A g.8811088C>A - - PMM2_000007 - - - - Unknown - - - 0 - Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) - pathogenic g.8904945C>A g.8811088C>A - - PMM2_000007 - - - - Unknown - - - 0 - Gert Matthijs
+/. - c.357C>A r.(?) p.(Phe119Leu) - pathogenic g.8904945C>A g.8811088C>A PMM2(NM_000303.2):c.357C>A (p.F119L) - PMM2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.357C>A r.(?) p.(Phe119Leu) - pathogenic g.8904945C>A g.8811088C>A PMM2(NM_000303.2):c.357C>A (p.F119L) - PMM2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.359T>C r.(?) p.(Ile120Thr) - likely pathogenic g.8904947T>C g.8811090T>C - - PMM2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 5 c.367C>T r.(?) p.(Arg123*) - pathogenic g.8904955C>T g.8811098C>T - - PMM2_000011 - - - - Unknown - - - 0 - Gert Matthijs
+/. - c.368G>A r.(?) p.(Arg123Gln) - pathogenic g.8904956G>A g.8811099G>A PMM2(NM_000303.2):c.368G>A (p.R123Q) - PMM2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. - c.368G>A r.(?) p.(Arg123Gln) - pathogenic g.8904956G>A g.8811099G>A PMM2(NM_000303.2):c.368G>A (p.R123Q) - PMM2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.368G>A r.(?) p.(Arg123Gln) - pathogenic g.8904956G>A g.8811099G>A PMM2(NM_000303.2):c.368G>A (p.R123Q) - PMM2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/+ 5 c.368G>A r.(?) p.(Arg123Gln) - pathogenic g.8904956G>A g.8811099G>A - - PMM2_000015 - - - - Unknown - - Hpy188I- 0 - Gert Matthijs
+/+ 5 c.368G>A r.(?) p.(Arg123Gln) - pathogenic g.8904956G>A g.8811099G>A - - PMM2_000015 - - - - Unknown - - Hpy188I- 0 - Gert Matthijs
+/+ 5 c.368G>A r.(?) p.(Arg123Gln) - pathogenic g.8904956G>A g.8811099G>A - - PMM2_000015 - - - - Unknown - - Hpy188I- 0 - Gert Matthijs
+/+ 5 c.368G>A r.(?) p.(Arg123Gln) - pathogenic g.8904956G>A g.8811099G>A - - PMM2_000015 - - - - Unknown - - Hpy188I- 0 - Gert Matthijs
+/+ 5 c.368G>A r.(?) p.(Arg123Gln) - pathogenic g.8904956G>A g.8811099G>A - - PMM2_000015 - - - - Unknown - - Hpy188I- 0 - Gert Matthijs
+/+ 5 c.368G>A r.(?) p.(Arg123Gln) - pathogenic g.8904956G>A g.8811099G>A - - PMM2_000015 - - - - Unknown - - Hpy188I- 0 - Gert Matthijs
+/+ 5 c.385G>A r.(?) p.(Val129Met) - pathogenic g.8904973G>A g.8811116G>A - - PMM2_000006 - - - - Unknown - - PciI+;HpyCH4IV- 0 - Gert Matthijs
+/+ 5 c.385G>A r.(?) p.(Val129Met) - pathogenic g.8904973G>A g.8811116G>A - - PMM2_000006 - - - - Unknown - - PciI+;HpyCH4IV- 0 - Gert Matthijs
+/+ 5 c.385G>A r.(?) p.(Val129Met) - pathogenic g.8904973G>A g.8811116G>A - - PMM2_000006 - - - - Unknown - - PciI+;HpyCH4IV- 0 - Gert Matthijs
+/+ 5 c.385G>A r.(?) p.(Val129Met) - pathogenic g.8904973G>A g.8811116G>A - - PMM2_000006 - - - - Unknown - - PciI+;HpyCH4IV- 0 - Gert Matthijs
+/+ 5 c.385G>A r.(?) p.(Val129Met) - pathogenic g.8904973G>A g.8811116G>A - - PMM2_000006 - - - - Unknown - - PciI+;HpyCH4IV- 0 - Gert Matthijs
+/+ 5 c.385G>A r.(?) p.(Val129Met) - pathogenic g.8904973G>A g.8811116G>A - - PMM2_000006 - - - - Unknown - - PciI+;HpyCH4IV- 0 - Gert Matthijs
+/+ 5 c.385G>A r.(?) p.(Val129Met) - pathogenic g.8904973G>A g.8811116G>A - - PMM2_000006 - - - - Unknown - - PciI+;HpyCH4IV- 0 - Gert Matthijs
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