Full data view for gene SFTPC

Information The variants shown are described using the NM_003018.3 transcript reference sequence.

64 entries on 1 page. Showing entries 1 - 64.
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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.? r.(?) p.? Parent #1 - pathogenic g.? - 140delA - SFTPC_000000 variant not in 100 control chromosomes PubMed: Nogee 2002 - - Germline - 1/34 cases - 0 - DNA SEQ - - ? 11893657-cases PubMed: Nogee 2002 infants with chronic lung diseases of unknown etiology - - United States - - 0 - - 1 Johan den Dunnen
?/. - c.-7652C>G r.(?) p.(=) Unknown - VUS g.22011690C>G g.22154177C>G LGI3(NM_139278.2):c.387G>C (p.(Lys129Asn)) - LGI3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-6391C>G r.(?) p.(=) Unknown - VUS g.22012951C>G g.22155438C>G LGI3(NM_139278.2):c.232G>C (p.(Glu78Gln)) - LGI3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-5442G>C r.(?) p.(=) Unknown - VUS g.22013900G>C g.22156387G>C LGI3(NM_139278.3):c.156C>G (p.C52W) - LGI3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.88C>T r.(?) p.(Pro30Leu) Parent #1 - pathogenic g.22020132C>T g.22162619C>T - - SFTPC_000010 variant not in 100 control chromosomes PubMed: Nogee 2002 - - Germline - 1/34 cases - 0 - DNA SEQ - - ? 11893657-cases PubMed: Nogee 2002 infants with chronic lung diseases of unknown etiology - - United States - - 0 - - 1 Johan den Dunnen
?/? 2 c.178A>G r.(?) p.(Met60Val) Maternal (confirmed) - VUS g.22020222A>G g.22162709A>G - - SFTPC_000027 - - - - Germline - - - 0 - DNA SEQ - - IPF FamFPF257-proband - - M - Netherlands - >46y 0 - - 1 Joanne van der Vis
?/? 2 c.180G>A r.(?) p.(Met60Ile) Unknown - VUS g.22020224G>A g.22162711G>A - - SFTPC_000028 - PubMed: Juge 2017 - - Germline - - - 0 - DNA SEQ-NG-I - - IPF - PubMed: Juge 2017 - F - France - >40y 0 - - 1 Joanne van der Vis
+/. 2 c.196G>A r.(?) p.(Glu66Lys) Paternal (confirmed) - pathogenic g.22020240G>A g.22162727G>A - - SFTPC_000002 - PubMed: Peca 2015, Journal: Peca 2015 - rs121917836 Unknown - - - 0 - DNA SEQ - - SMDP-2 - PubMed: Peca 2015, Journal: Peca 2015 Pat1, asymptomatic heterozygous carrier parent F - Italy white - 0 - - 1 Donatella Peca
+?/+? 3 c.211A>G r.(?) p.(Met71Val) Maternal (inferred) - likely pathogenic g.22020602A>G g.22163089A>G - - SFTPC_000029 - PubMed: van Moorsel 2010 - - Germline - - - 0 - DNA SEQ - - IPF FamFPF7-proband PubMed: van Moorsel 2010 - M - Netherlands - >44y 0 - - 1 Joanne van der Vis
+/. 3 c.218T>C r.(?) p.(Ile73Thr) Paternal (confirmed) - pathogenic g.22020609T>C g.22163096T>C - - SFTPC_000001 - PubMed: Peca 2015, Journal: Peca 2015 - rs121917834 Unknown - - - 0 - DNA SEQ - - SMDP-2 - PubMed: Peca 2015, Journal: Peca 2015 Pat2, asymptomatic heterozygous carrier parent M - Italy - - 0 - - 1 Donatella Peca
+/. 3 c.218T>C r.(?) p.(Ile73Thr) Paternal (confirmed) - pathogenic g.22020609T>C g.22163096T>C - - SFTPC_000001 - PubMed: Peca 2015, Journal: Peca 2015 - rs121917834 Germline - - - 0 - DNA SEQ - - SMDP-2 - PubMed: Peca 2015, Journal: Peca 2015 Pat3 M - Romania white - 0 - - 1 Johan den Dunnen
+/. 3 c.218T>C r.(?) p.(Ile73Thr) Unknown - pathogenic g.22020609T>C g.22163096T>C - - SFTPC_000001 - PubMed: Peca 2015, Journal: Peca 2015 - rs121917834 Germline - - - 0 - DNA SEQ - - SMDP-2 - PubMed: Peca 2015, Journal: Peca 2015 Pat4, asymptomatic heterozygous carrier parent F - Italy white - 0 - - 1 Johan den Dunnen
+/. 3 c.218T>C r.(?) p.(Ile73Thr) Maternal (confirmed) - pathogenic g.22020609T>C g.22163096T>C - - SFTPC_000001 - PubMed: Peca 2015, Journal: Peca 2015 - rs121917834 Germline - - - 0 - DNA SEQ - - SMDP-2 - PubMed: Peca 2015, Journal: Peca 2015 Pat5, asymptomatic heterozygous carrier parent M - Italy white - 0 - - 1 Johan den Dunnen
+/. 3 c.218T>C r.(?) p.(Ile73Thr) Unknown - pathogenic g.22020609T>C g.22163096T>C - - SFTPC_000001 - PubMed: Juge 2017 - rs121917834 Germline/De novo (untested) ? - - 0 - DNA SEQ-NG - - IPF - PubMed: Juge 2017 - M ? France - >48y 0 - - 1 Joanne van der Vis
+/+ 3 c.218T>C r.(?) p.(Ile73Thr) Maternal (inferred) - pathogenic g.22020609T>C g.22163096T>C - - SFTPC_000001 - PubMed: van Moorsel 2010 - rs121917834 Germline - - - 0 - DNA SEQ - - IPF FamFPF9-proband PubMed: van Moorsel 2010 - F - Netherlands - >32y 0 - - 3 Joanne van der Vis
+/+ 3 c.218T>C r.(?) p.(Ile73Thr) Unknown - pathogenic g.22020609T>C g.22163096T>C - - SFTPC_000001 - PubMed: van Moorsel 2010 - rs121917834 Germline - - - 0 - DNA SEQ - - IPF FamFPF18-proband PubMed: van Moorsel 2010 - M - Netherlands - 62y 0 - - 1 Joanne van der Vis
+/+ 3 c.218T>C r.(?) p.(Ile73Thr) Maternal (inferred) - pathogenic g.22020609T>C g.22163096T>C - - SFTPC_000001 - PubMed: van Moorsel 2010 - rs121917834 Germline - - - 0 - DNA SEQ - - IPF FamFPF20-proband PubMed: van Moorsel 2010 - M - Netherlands - 76y 0 - - 2 Joanne van der Vis
+/+ 3 c.218T>C r.(?) p.(Ile73Thr) Maternal (inferred) - pathogenic g.22020609T>C g.22163096T>C - - SFTPC_000001 - PubMed: van Moorsel 2010 - rs121917834 Germline - - - 0 - DNA SEQ - - IPF FamFPF9-sister PubMed: van Moorsel 2010 - F - Netherlands - >34y 0 - - 3 Joanne van der Vis
+/+ 3 c.218T>C r.(?) p.(Ile73Thr) Maternal (inferred) - pathogenic g.22020609T>C g.22163096T>C - - SFTPC_000001 - PubMed: van Moorsel 2010 - rs121917834 Germline - - - 0 - DNA SEQ - - IPF FamFPF9-maternal aunt - - F - Netherlands - 76y 0 - - 3 Joanne van der Vis
+/+ 3 c.218T>C r.(?) p.(Ile73Thr) Maternal (inferred) - pathogenic g.22020609T>C g.22163096T>C - - SFTPC_000001 - PubMed: van Moorsel 2010 - rs121917834 Germline - - - 0 - DNA SEQ - - IPF FamFPF20-nephew - - M - Netherlands - >50y 0 - - 2 Joanne van der Vis
+/+ 3 c.218T>C r.(?) p.(Ile73Thr) Unknown - pathogenic g.22020609T>C g.22163096T>C - - SFTPC_000001 - PubMed: Coghlan 2014 - rs121917834 Germline - - - 0 - ? ? - - IPF - PubMed: Coghlan 2014 - - - - - - 0 - - 1 Joanne van der Vis
+/+ 3 c.218T>C r.(?) p.(Ile73Thr) Unknown - pathogenic g.22020609T>C g.22163096T>C - - SFTPC_000001 - PubMed: Coghlan 2014 - rs121917834 Germline - - - 0 - ? ? - - IPF - PubMed: Coghlan 2014 - - - - - - 0 - - 1 Joanne van der Vis
+/+ 3 c.218T>C r.(?) p.(Ile73Thr) Unknown - pathogenic g.22020609T>C g.22163096T>C - - SFTPC_000001 - PubMed: Coghlan 2014 - rs121917834 Germline - - - 0 - ? ? - - IPF - PubMed: Coghlan 2014 - - - - - - 0 - - 1 Joanne van der Vis
+/+ 3 c.218T>C r.(?) p.(Ile73Thr) Unknown - pathogenic g.22020609T>C g.22163096T>C - - SFTPC_000001 - PubMed: Cottin 2011 - rs121917834 Germline - - - 0 - DNA SEQ - - IPF proband PubMed: Cottin 2011 - F - - - >34y 0 - - 2 Joanne van der Vis
+/+ 3 c.218T>C r.(?) p.(Ile73Thr) Maternal (confirmed) - pathogenic g.22020609T>C g.22163096T>C - - SFTPC_000001 - PubMed: Cottin 2011 - rs121917834 Germline - - - 0 - DNA SEQ - - SMDP-2 daughter proband PubMed: Cottin 2011 - F - - - - 0 - - 2 Joanne van der Vis
+/. 4 c.228T>C r.(?) p.(Ile73Thr) Parent #1 - pathogenic g.22020619T>C g.22163106T>C - - SFTPC_000011 variant not in 100 control chromosomes Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Nogee 2002 - - Germline - 1/34 cases - 0 - DNA SEQ - - ? 11893657-cases PubMed: Nogee 2002 infants with chronic lung diseases of unknown etiology - - United States - - 0 - - 1 Johan den Dunnen
-?/. - c.288C>T r.(?) p.(Ile96=) Unknown - likely benign g.22020679C>T g.22163166C>T SFTPC(NM_003018.3):c.288C>T (p.I96=) - SFTPC_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 3 c.298G>A r.(?) p.(Gly100Ser) Unknown - VUS g.22020689G>A g.22163176G>A - - SFTPC_000030 - PubMed: Ono 2011 - - Germline - - - 0 - DNA SEQ - - IPF grandmother proband PubMed: Ono 2011 - F - Japan - >63y 0 - - 3 Joanne van der Vis
?/? 3 c.298G>A r.(?) p.(Gly100Ser) Maternal (confirmed) - VUS g.22020689G>A g.22163176G>A - - SFTPC_000030 - PubMed: Ono 2011 - - Germline - - - 0 - DNA SEQ - - IPF mother proband PubMed: Ono 2011 - F - Japan - 41y 0 - - 3 Joanne van der Vis
?/? 3 c.298G>A r.(?) p.(Gly100Ser) Maternal (confirmed) - VUS g.22020689G>A g.22163176G>A - - SFTPC_000030 - PubMed: Ono 2011 - - Germline - - - 0 - DNA SEQ - - IPF proband PubMed: Ono 2011 - F - Japan - >18y 0 - - 3 Joanne van der Vis
+/. 4 c.299G>T r.(?) p.(Gly100Val) Parent #1 - pathogenic g.22020690G>T g.22163177G>T - - SFTPC_000012 variant not in 100 control chromosomes PubMed: Nogee 2002 - - Germline - 1/34 cases - 0 - DNA SEQ - - ? 11893657-cases PubMed: Nogee 2002 infants with chronic lung diseases of unknown etiology - - United States - - 0 - - 1 Johan den Dunnen
+/. 3 c.304G>A r.(?) p.(Val102Met) Unknown - pathogenic g.22020695G>A g.22163182G>A - - SFTPC_000003 - PubMed: Peca 2015, Journal: Peca 2015 - - Unknown - - - 0 - DNA SEQ - - SMDP-2 - PubMed: Peca 2015, Journal: Peca 2015 - F - Italy - - 0 - - 1 Donatella Peca
?/? 3 c.304G>A r.(?) p.(Val102Met) Unknown - VUS g.22020695G>A g.22163182G>A - - SFTPC_000003 - PubMed: Fattori 2019 - rs772568845 Germline - - - 0 - DNA SEQ - - IPF - PubMed: Fattori 2019 - M - - - >40y 0 - - 1 Joanne van der Vis
+/. 4 c.310T>C r.(?) p.(Tyr104His) Parent #1 - pathogenic g.22020701T>C g.22163188T>C - - SFTPC_000013 variant not in 100 control chromosomes PubMed: Nogee 2002 - - Germline - 1/34 cases - 0 - DNA SEQ - - ? 11893657-cases PubMed: Nogee 2002 infants with chronic lung diseases of unknown etiology - - United States - - 0 - - 1 Johan den Dunnen
?/? 4 c.329T>G r.(?) p.(Leu110Arg) Unknown - VUS g.22020953T>G g.22163440T>G - - SFTPC_000031 - PubMed: Coghlan 2014 - rs1003901489 Germline - - - 0 - ? ? - - IPF - PubMed: Coghlan 2014 - - - - - - 0 - - 1 Joanne van der Vis
?/? 4 c.334G>A r.(?) p.(Ala112Thr) Unknown - VUS g.22020958G>A g.22163445G>A - - SFTPC_000032 - PubMed: Coghlan 2014 - - Germline - - - 0 - ? ? - - IPF - PubMed: Coghlan 2014 - - - - - - 0 - - 1 Joanne van der Vis
?/? 4 c.338A>G r.(?) p.(Tyr113Cys) Unknown - VUS g.22020962A>G g.22163449A>G - - SFTPC_000033 - - - - Germline - - - 0 - DNA SEQ - - IPF FamFPF76-proband - - F - Netherlands - >60y 0 - - 2 Joanne van der Vis
?/? 4 c.338A>G r.(?) p.(Tyr113Cys) Maternal (confirmed) - VUS g.22020962A>G g.22163449A>G - - SFTPC_000033 - - - - Germline - - - 0 - DNA SEQ - - IPF FamFPF76-daughter - - F - Netherlands - >32y 0 - - 2 Joanne van der Vis
+/. 4 c.344C>T r.(?) p.(Pro115Leu) Parent #1 - pathogenic g.22020968C>T g.22163455C>T - - SFTPC_000014 variant not in 100 control chromosomes PubMed: Nogee 2002 - - Germline - 1/34 cases - 0 - DNA SEQ - - ? 11893657-cases PubMed: Nogee 2002 infants with chronic lung diseases of unknown etiology - - United States - - 0 - - 1 Johan den Dunnen
+/. 5 c.377T>G r.(?) p.(Ile126Arg) Parent #1 - pathogenic g.22021001T>G g.22163488T>G - - SFTPC_000015 variant not in 100 control chromosomes PubMed: Nogee 2002 - - Germline - 1/34 cases - 0 - DNA SEQ - - ? 11893657-cases PubMed: Nogee 2002 infants with chronic lung diseases of unknown etiology - - United States - - 0 - - 1 Johan den Dunnen
+?/+? 4 c.397A>C r.(?) p.(Ser133Arg) Unknown - likely pathogenic g.22021021A>C g.22163508A>C - - SFTPC_000034 - PubMed: Kazzi 2018 - - De novo - - - 0 - DNA SEQ-NG-I - - IPF - PubMed: Kazzi 2018 - M - - - >27y 0 - - 1 Joanne van der Vis
?/? 4 c.410T>C r.(?) p.(Leu137Pro) Unknown - VUS g.22021034T>C g.22163521T>C - - SFTPC_000035 - - - - Germline - - - 0 - DNA SEQ - - IPF FamFPF87-proband - - F - Netherlands - >55y 0 - - 1 Joanne van der Vis
-/. - c.413C>A r.(?) p.(Thr138Asn) Unknown - benign g.22021037C>A g.22163524C>A SFTPC(NM_001172357.2):c.413C>A (p.T138N) - SFTPC_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.435G>A r.(325_435del) p.(Leu109_Gln145del) Unknown - pathogenic g.22021059G>A g.22163546G>A - - SFTPC_000008 - - - - Germline/De novo (untested) - - - 0 - RNA RT-PCR - - SMDP-2 - - - F ? - - - 0 - - 1 Pascale Fanen
+/. 4 c.435G>A r.325_435del p.Leu109_Gln145del Unknown - pathogenic g.22021059G>A g.22163546G>A - - SFTPC_000008 - PubMed: Litao 2017, Journal: Litao 2017 - - Germline/De novo (untested) - - - 0 - DNA, RNA RT-PCR, SEQ - - SMDP-2 - PubMed: Litao 2017, Journal: Litao 2017 2-generation family, 1 affected, healthy parents untested F yes United States Yemeni - 0 - - 1 Johan den Dunnen
+/. 4 c.435G>C r.325_435del p.Leu109_Gln145del Unknown - pathogenic g.22021059G>C g.22163546G>C - - SFTPC_000006 - - - - Unknown - - - 0 - DNA SEQ - - SMDP-2 - - - F no France - 00y03m 0 - - 1 Pascale Fanen
+/. 4i c.435+1G>A r.325_435del p.Leu109_Gln145del Unknown - NA g.22021060G>A g.22163547G>A - - SFTPC_000007 consequences on splicing determined using a mini-gene construct Fanen, submitted - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4i c.435+1G>A r.325_435del p.Leu109_Gln145del Maternal (confirmed) - pathogenic g.22021060G>A g.22163547G>A - - SFTPC_000007 not in 100 control chromosomes; small amount of surfactant protein C precursor protein in lung tissue with predominant band migrating at a lower molecular weight, mature surfactant protein C undetectable in lung tissue/bronchoalveolar-lavage fluid PubMed: Nogee 2001, Journal: Nogee 2001, OMIM:var0001 - - Germline yes - BstNI- 0 - DNA, RNA RT-PCR, SEQ - - SMDP-2 - PubMed: Nogee 2001, Journal: Nogee 2001 3-generation family, affected child, mother and maternal grandfather F no United States - - 0 - - 3 Johan den Dunnen
+/. 5i c.435+1G>T r.spl p.? Parent #1 - pathogenic g.22021060G>T g.22163547G>T 460+1G>T - SFTPC_000009 variant not in 100 control chromosomes PubMed: Nogee 2002 - - De novo - 1/34 cases - 0 - DNA SEQ - - ? 11893657-cases PubMed: Nogee 2002 infants with chronic lung diseases of unknown etiology - - United States - - 0 - - 1 Johan den Dunnen
+/+ - c.435+2T>C r.spl? p.? Paternal (inferred) - pathogenic g.22021061T>C g.22163548T>C - - SFTPC_000036 - PubMed: van Moorsel 2010 - - Germline - - - 0 - DNA SEQ - - IPF FamFPF10-proband PubMed: van Moorsel 2010 - M - Netherlands - 33y 0 - - 1 Joanne van der Vis
?/. 5 c.463G>C r.(?) p.(Ala155Pro) Unknown - VUS g.22021423G>C g.22163910G>C - - SFTPC_000005 - PubMed: Peca 2015, Journal: Peca 2015 - rs202145169 Unknown - - - 0 - RNA SEQ - - SMDP-2 - PubMed: Peca 2015, Journal: Peca 2015 Pat7 F - Italy - - 0 - - 1 Donatella Peca
?/. - c.487C>T r.(?) p.(Gln163Ter) Unknown - VUS g.22021447C>T g.22163934C>T SFTPC(NM_001172357.1):c.469C>T (p.(Gln157Ter)) - SFTPC_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 5 c.518C>A r.(?) p.(Pro173His) Unknown - VUS g.22021478C>A g.22163965C>A - - SFTPC_000004 - PubMed: Peca 2015, Journal: Peca 2015 - - Unknown - - - 0 - DNA SEQ - - SMDP-2 - PubMed: Peca 2015, Journal: Peca 2015 Pat8 M - Italy white - 0 - - 1 Donatella Peca
?/. - c.541C>G r.(?) p.(Leu181Val) Unknown - VUS g.22021501C>G g.22163988C>G SFTPC(NM_003018.3):c.541C>G (p.L181V) - SFTPC_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.557G>A r.(?) p.(Ser186Asn) Unknown - benign g.22021517G>A g.22164004G>A SFTPC(NM_001172357.2):c.539G>A (p.S180N) - SFTPC_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 6 c.560C>A r.(?) p.(Thr187Asn) Parent #1 - pathogenic g.22021520C>A g.22164007C>A - - SFTPC_000016 variant not in 100 control chromosomes PubMed: Nogee 2002 - - Germline - 1/34 cases - 0 - DNA SEQ - - ? 11893657-cases PubMed: Nogee 2002 infants with chronic lung diseases of unknown etiology - - United States - - 0 - - 1 Johan den Dunnen
+/+ 5 c.563T>A r.(?) p.(Leu188Gln) Maternal (inferred) - pathogenic g.22021523T>A g.22164010T>A 5+128T>A - SFTPC_000037 - PubMed: Thomas 2002, PubMed: Chibbar 2004 - rs121917835 Germline - - - 0 - DNA ? - - IPF - PubMed: Thomas 2002, PubMed: Chibbar 2004 - M - - - - 0 - - 1 Joanne van der Vis
+/. 6 c.563T>G r.(?) p.(Leu188Arg) Parent #1 - pathogenic g.22021523T>G g.22164010T>G - - SFTPC_000017 variant not in 100 control chromosomes PubMed: Nogee 2002 - - Germline - 1/34 cases - 0 - DNA SEQ - - ? 11893657-cases PubMed: Nogee 2002 infants with chronic lung diseases of unknown etiology - - United States - - 0 - - 1 Johan den Dunnen
?/? 5 c.566G>A r.(?) p.(Cys189Tyr) Unknown - VUS g.22021526G>A g.22164013G>A - - SFTPC_000038 - PubMed: Guillot 2009 - - Germline - - - 0 - DNA SEQ - - IPF - PubMed: Guillot 2009 - - - France - - 0 - - 1 Joanne van der Vis
+?/+? 5 c.581T>C r.(?) p.(Leu194Pro) Unknown - likely pathogenic g.22021541T>C g.22164028T>C - - SFTPC_000039 - PubMed: Guillot 2009 - rs121918560 Germline - - - 0 - DNA SEQ - - IPF - PubMed: Guillot 2009 - - - France - - 0 - - 1 Joanne van der Vis
-/. - c.*123G>A r.(=) p.(=) Unknown - benign g.22021883G>A g.22164370G>A SFTPC(NM_001172357.2):c.*329G>A - SFTPC_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*174G>A r.(=) p.(=) Unknown - benign g.22021934G>A g.22164421G>A SFTPC(NM_001172357.2):c.*380G>A - SFTPC_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1164C>A r.(=) p.(=) Unknown - likely benign g.22022924C>A - BMP1(NM_006129.4):c.6C>A (p.P2=) - SFTPC_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1276C>G r.(=) p.(=) Unknown - VUS g.22023036C>G g.22165523C>G BMP1(NM_001199.3):c.118C>G (p.(Pro40Ala)) - BMP1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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