Full data view for gene LTBP4

Information The variants shown are described using the NM_003573.2 transcript reference sequence.

61 entries on 1 page. Showing entries 1 - 61.
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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.340+1345C>T r.(=) p.(=) Parent #1 - likely benign g.41107428C>T g.40601522C>T - - LTBP4_000051 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs185400394 Germline - 3/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 3 Mohammed Faruq
-/. - c.469G>A r.(?) p.(Val157Ile) Unknown - benign g.41111069G>A g.40605163G>A LTBP4(NM_001042544.1):c.580G>A (p.V194I), LTBP4(NM_003573.2):c.469G>A (p.V157I) - LTBP4_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.469G>A r.(?) p.(Val157Ile) Unknown - benign g.41111069G>A g.40605163G>A LTBP4(NM_001042544.1):c.580G>A (p.V194I), LTBP4(NM_003573.2):c.469G>A (p.V157I) - LTBP4_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.582G>C r.(?) p.(Ser194=) Unknown - likely benign g.41111360G>C g.40605454G>C LTBP4(NM_001042544.1):c.693G>C (p.S231=) - LTBP4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.780+2T>G r.spl p.? Both (homozygous) - pathogenic g.41111560T>G g.40605654T>G - - LTBP4_000006 not found in 100 controls PubMed: Callewaert 2013, Journal: Callewaert 2013 - - Germline - - - 0 - DNA SEQ - - ARCL-1C - PubMed: Callewaert 2013, Journal: Callewaert 2013 - M yes Spain caucasian - 0 - - 1 Bert Callewaert
-?/. - c.981C>T r.(?) p.(Gly327=) Unknown - likely benign g.41112332C>T g.40606426C>T LTBP4(NM_001042544.1):c.1092C>T (p.G364=) - LTBP4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1263del r.(?) p.(Cys422Alafs*352) Both (homozygous) - pathogenic g.41114142del g.40608236del - - LTBP4_000007 not found in 100 controls PubMed: Callewaert 2013, Journal: Callewaert 2013 - - Germline - - - 0 - DNA SEQ - - ARCL-1C - PubMed: Callewaert 2013, Journal: Callewaert 2013 - F yes (Afghanistan) middle-east - 0 - - 1 Bert Callewaert
?/. - c.1276C>G r.(?) p.(Pro426Ala) Unknown - VUS g.41114155C>G g.40608249C>G LTBP4(NM_001042544.1):c.1387C>G (p.P463A) - LTBP4_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1307G>A r.(?) p.(Arg436His) Unknown - likely benign g.41114186G>A g.40608280G>A LTBP4(NM_001042544.1):c.1418G>A (p.(Arg473His)) - LTBP4_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1328G>A r.(?) p.(Gly443Asp) Unknown - benign g.41114207G>A g.40608301G>A LTBP4(NM_001042544.1):c.1439G>A (p.G480D) - LTBP4_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1342C>T r.(?) p.(Arg448*) Parent #1 - pathogenic g.41114221C>T g.40608315C>T - - LTBP4_000001 not found in 100 controls PubMed: Callewaert 2013, Journal: Callewaert 2013 - - Germline - - - 0 - DNA SEQ - - ARCL-1C - PubMed: Callewaert 2013, Journal: Callewaert 2013 - F no United States caucasian - 0 - - 1 Bert Callewaert
-/. - c.1390T>A r.(?) p.(Ser464Thr) Unknown - benign g.41114269T>A g.40608363T>A LTBP4(NM_003573.2):c.1390T>A (p.S464T) - LTBP4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1414C>T r.(?) p.(Arg472Cys) Unknown - VUS g.41114407C>T - LTBP4(NM_001042544.1):c.1525C>T (p.R509C) - LTBP4_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 12 c.1415G>A r.(1415g>a) P.(Arg472His) Unknown - VUS g.41114408G>A g.40608502G>A 1418G>A (R473H) - LTBP4_000013 - - - - De novo - - - 0 - DNA SEQ-NG blood - OPLL - - - - - China Han - 0 - - 1 Xiaochen Qu
+/. - c.1450del r.(?) p.(Arg484Glyfs*290) Both (homozygous) - pathogenic (recessive) g.41114443del g.40608537del - - LTBP4_000036 - - - - Germline - - - 0 - DNA SEQ - - ARCL-1C - - - F yes Venezuela - 01y06m 0 - - 1 Marco Ritelli
-?/. - c.1517-8C>A r.(=) p.(=) Unknown - likely benign g.41115428C>A g.40609522C>A LTBP4(NM_001042544.1):c.1628-8C>A (p.(=)) - LTBP4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1792C>G r.(?) p.(Arg598Gly) Unknown - benign g.41116455C>G g.40610549C>G LTBP4(NM_001042544.1):c.1903C>G (p.R635G) - LTBP4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1838G>A r.(?) p.(Gly613Asp) Unknown - VUS g.41116501G>A - LTBP4(NM_001042544.1):c.1949G>A (p.G650D) - LTBP4_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1851C>A r.(?) p.(Cys617*) Both (homozygous) - pathogenic g.41116514C>A g.40610608C>A - - LTBP4_000008 not found in 100 controls PubMed: Callewaert 2013, Journal: Callewaert 2013 - - Germline - - - 0 - DNA SEQ - - ARCL-1C - PubMed: Callewaert 2013, Journal: Callewaert 2013 - M yes Turkey - - 0 - - 1 Bert Callewaert
-/. - c.2058C>T r.(?) p.(Pro686=) Unknown - benign g.41117215C>T g.40611309C>T LTBP4(NM_001042544.1):c.2169C>T (p.P723=) - LTBP4_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2143G>A r.(?) p.(Asp715Asn) Parent #1 - likely benign g.41117300G>A g.40611394G>A - - LTBP4_000042 11 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34093919 Germline - 11/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 11 Mohammed Faruq
-/. - c.2144-11C>A r.(=) p.(=) Unknown - benign g.41117754C>A g.40611848C>A LTBP4(NM_001042544.1):c.2255-11C>A - LTBP4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2248A>G r.(?) p.(Thr750Ala) Unknown - benign g.41117869A>G g.40611963A>G LTBP4(NM_001042544.1):c.2359A>G (p.T787A), LTBP4(NM_003573.2):c.2248A>G (p.T750A) - LTBP4_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2248A>G r.(?) p.(Thr750Ala) Unknown - benign g.41117869A>G g.40611963A>G LTBP4(NM_001042544.1):c.2359A>G (p.T787A), LTBP4(NM_003573.2):c.2248A>G (p.T750A) - LTBP4_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2329G>A r.(?) p.(Gly777Ser) Unknown - likely benign g.41118038G>A g.40612132G>A LTBP4(NM_001042544.1):c.2440G>A (p.(Gly814Ser)) - LTBP4_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2347A>G r.(?) p.(Thr783Ala) Unknown - benign g.41118056A>G g.40612150A>G LTBP4(NM_001042544.1):c.2458A>G (p.T820A), LTBP4(NM_003573.2):c.2347A>G (p.T783A) - LTBP4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2347A>G r.(?) p.(Thr783Ala) Unknown - benign g.41118056A>G g.40612150A>G LTBP4(NM_001042544.1):c.2458A>G (p.T820A), LTBP4(NM_003573.2):c.2347A>G (p.T783A) - LTBP4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2408C>A r.(?) p.(Ser803*) Both (homozygous) - pathogenic g.41118989C>A g.40613083C>A - - LTBP4_000003 not found in 100 controls PubMed: Callewaert 2013, Journal: Callewaert 2013 - - Germline - - - 0 - DNA SEQ - - ARCL-1C - PubMed: Callewaert 2013, Journal: Callewaert 2013 - M yes Pakistan - - 0 - - 1 Bert Callewaert
-/. - c.2655C>T r.(?) p.(Asp885=) Unknown - benign g.41119829C>T g.40613923C>T LTBP4(NM_003573.2):c.2655C>T (p.D885=) - LTBP4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2837G>A r.(?) p.(Gly946Asp) Unknown - VUS g.41120287G>A g.40614381G>A LTBP4(NM_001042544.1):c.2948G>A (p.(Gly983Asp)) - LTBP4_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2902+6C>T r.(=) p.(=) Unknown - benign g.41120358C>T g.40614452C>T LTBP4(NM_001042544.1):c.3013+6C>T (, p.(=)) - LTBP4_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2902+6C>T r.(=) p.(=) Unknown - likely benign g.41120358C>T g.40614452C>T LTBP4(NM_001042544.1):c.3013+6C>T (, p.(=)) - LTBP4_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2989G>C r.(?) p.(Ala997Pro) Unknown - VUS g.41122881G>C - LTBP4(NM_001042544.1):c.3100G>C (p.A1034P) - LTBP4_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3122_3124= r.(=) p.(Gln1041=) Unknown - benign g.41123095dup g.40617190dup LTBP4(NM_001042544.1):c.3236dupG (p.Y1080Lfs*17), LTBP4(NM_003573.2):c.3125dupG - LTBP4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3122_3124= r.(=) p.(Gln1041=) Unknown - benign g.41123095dup g.40617190dup LTBP4(NM_001042544.1):c.3236dupG (p.Y1080Lfs*17), LTBP4(NM_003573.2):c.3125dupG - LTBP4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3218C>T - - Parent #1 - likely benign g.41125310C>T g.40619405C>T - - LTBP4_000052 1 heterozygous, no homozygous; Clinindb (India) Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: Narang 2020, Journal: Narang 2020 - rs78745792 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
-/. - c.3311C>T r.(?) p.(Thr1104Met) Unknown - benign g.41128309C>T g.40622404C>T LTBP4(NM_001042544.1):c.3422C>T (p.T1141M) - LTBP4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3311C>T r.(?) p.(Thr1104Met) Unknown - benign g.41128309C>T g.40622404C>T LTBP4(NM_001042544.1):c.3422C>T (p.T1141M) - LTBP4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3416G>A - p.? Parent #1 - benign g.41128415G>A g.40622510G>A - - LTBP4_000026 233 heterozygous; Clinindb (India) Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: Narang 2020, Journal: Narang 2020 - rs35079932 Germline - 233/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 233 Mohammed Faruq
-/. - c.3416G>A - p.? Both (homozygous) - benign g.41128415G>A g.40622510G>A - - LTBP4_000026 2 homozygous; Clinindb (India) Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: Narang 2020, Journal: Narang 2020 - rs35079932 Germline - 2/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
-/. - c.3417G>A r.(?) p.(Val1139=) Unknown - benign g.41128415G>A g.40622510G>A LTBP4(NM_003573.2):c.3417G>A (p.V1139=) - LTBP4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.3556T>C r.(?) p.(Cys1186Arg) Both (homozygous) - pathogenic g.41128554T>C g.40622649T>C - - LTBP4_000011 not found in 100 controls PubMed: Callewaert 2013, Journal: Callewaert 2013 - - Germline - - - 0 - DNA SEQ - - ARCL-1C - PubMed: Callewaert 2013, Journal: Callewaert 2013 - M yes - middle-east - 0 - - 1 Bert Callewaert
+/. - c.3661C>T r.(?) p(.Gln1221*) Parent #1 - pathogenic g.41129523C>T g.40623618C>T - - LTBP4_000004 not found in 100 controls PubMed: Callewaert 2013, Journal: Callewaert 2013 - - Germline - - - 0 - DNA SEQ - - ARCL-1C - PubMed: Callewaert 2013, Journal: Callewaert 2013 - F no France - - 0 - - 1 Bert Callewaert
-?/. - c.3663G>A r.(?) p.(Gln1221=) Unknown - likely benign g.41129525G>A g.40623620G>A LTBP4(NM_001042544.1):c.3774G>A (p.Q1258=) - LTBP4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3777C>T r.(?) p.(Asp1259=) Unknown - benign g.41129842C>T g.40623937C>T LTBP4(NM_001042544.1):c.3888C>T (p.D1296=) - LTBP4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3777C>T r.(?) p.(Asp1259=) Unknown - benign g.41129842C>T g.40623937C>T LTBP4(NM_001042544.1):c.3888C>T (p.D1296=) - LTBP4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.3886C>T r.(?) p.(Gln1296*) Parent #2 - pathogenic g.41129951C>T g.40624046C>T - - LTBP4_000005 not found in 100 controls PubMed: Callewaert 2013, Journal: Callewaert 2013 - - Germline - - - 0 - DNA SEQ - - ARCL-1C - PubMed: Callewaert 2013, Journal: Callewaert 2013 - F no France - - 0 - - 1 Bert Callewaert
-?/. - c.3922+8C>T r.(=) p.(=) Unknown - likely benign g.41129995C>T g.40624090C>T LTBP4(NM_001042544.1):c.4032+8C>T (p.(=)) - LTBP4_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4017C>T r.(?) p.(Cys1339=) Unknown - likely benign g.41131856C>T g.40625951C>T LTBP4(NM_001042544.1):c.4127C>T (p.(Ala1376Val)) - LTBP4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.4051_4052dup r.(?) p.(Leu1352ProfsTer41) Unknown - pathogenic g.41131890_41131891dup g.40625985_40625986dup - - LTBP4_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4115dup r.(?) p.(Tyr1373IlefsTer2) Parent #2 - pathogenic g.41132919dup g.40627014dup - - LTBP4_000002 not found in 100 controls PubMed: Callewaert 2013, Journal: Callewaert 2013 - - Germline - - - 0 - DNA SEQ - - ARCL-1C - PubMed: Callewaert 2013, Journal: Callewaert 2013 - F no United States caucasian - 0 - - 1 Bert Callewaert
+/. - c.4127dup r.(?) p.(Arg1377Alafs*27) Both (homozygous) - pathogenic g.41132931dup g.40627026dup - - LTBP4_000009 not found in 100 controls PubMed: Callewaert 2013, Journal: Callewaert 2013 - - Germline - - - 0 - DNA SEQ - - ARCL-1C - PubMed: Callewaert 2013, Journal: Callewaert 2013 - F yes Pakistan - - 0 - - 1 Bert Callewaert
+/. - c.4129C>T r.(?) p.(Arg1377*) Both (homozygous) - pathogenic g.41132933C>T g.40627028C>T - - LTBP4_000010 not found in 100 controls PubMed: Callewaert 2013, Journal: Callewaert 2013 - - Germline - - - 0 - DNA SEQ - - ARCL-1C - PubMed: Callewaert 2013, Journal: Callewaert 2013 - F yes Spain unknown - 0 - - 1 Bert Callewaert
?/. - c.4201G>A r.(?) p.(Gly1401Arg) Unknown - VUS g.41133005G>A g.40627100G>A LTBP4(NM_001042544.1):c.4311G>A (p.(Met1437Ile)) - LTBP4_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.4387A>T - p.? Parent #1 - likely benign g.41133192A>T g.40627287A>T - - LTBP4_000033 13 heterozygous, no homozygous; Clinindb (India) Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: Narang 2020, Journal: Narang 2020 - rs35809725 Germline - 13/2787 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 13 Mohammed Faruq
-/. - c.4388A>T r.(?) p.(Tyr1463Phe) Unknown - benign g.41133192A>T g.40627287A>T LTBP4(NM_001042544.1):c.4499A>T (p.Y1500F) - LTBP4_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.4456+8C>T r.(=) p.(=) Unknown - benign g.41133268C>T g.40627363C>T LTBP4(NM_003573.2):c.4456+8C>T - LTBP4_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4499C>T - p.? Parent #1 - benign g.41133653C>T g.40627748C>T - - LTBP4_000053 1 heterozygous, no homozygous; Clinindb (India) Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: Narang 2020, Journal: Narang 2020 - rs115718556 Germline - 1/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
-?/. - c.4606G>C r.(?) p.(Val1536Leu) Unknown - likely benign g.41133759G>C g.40627854G>C LTBP4(NM_001042544.1):c.4716G>C (p.(Val1573Leu)) - LTBP4_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4610-18G>C r.(=) p.(=) Unknown - benign g.41135283G>C g.40629378G>C LTBP4(NM_001042544.1):c.4721-18G>C - LTBP4_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.4747G>A r.(?) p.(Ala1583Thr) Unknown - likely benign g.41135438G>A - LTBP4(NM_001042544.1):c.4858G>A (p.A1620T) - LTBP4_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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