Full data view for gene TPO

Information The variants shown are described using the NM_000547.5 transcript reference sequence.

137 entries on 2 pages. Showing entries 1 - 100.
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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.12C>G r.(?) p.(Leu4=) Unknown - benign g.1418192C>G g.1414420C>G TPO(NM_000547.5):c.12C>G (p.L4=), TPO(NM_000547.6):c.12C>G (p.L4=) - TPO_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.12C>G r.(?) p.(Leu4=) Unknown - benign g.1418192C>G g.1414420C>G TPO(NM_000547.5):c.12C>G (p.L4=), TPO(NM_000547.6):c.12C>G (p.L4=) - TPO_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.12C>G r.(?) p.(Leu4=) Unknown - benign g.1418192C>G g.1414420C>G TPO(NM_000547.5):c.12C>G (p.L4=), TPO(NM_000547.6):c.12C>G (p.L4=) - TPO_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.30G>A r.(?) p.(Thr10=) Unknown - benign g.1418210G>A g.1414438G>A TPO(NM_000547.5):c.30G>A (p.T10=), TPO(NM_000547.6):c.30G>A (p.T10=) - TPO_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.30G>A r.(?) p.(Thr10=) Unknown - benign g.1418210G>A g.1414438G>A TPO(NM_000547.5):c.30G>A (p.T10=), TPO(NM_000547.6):c.30G>A (p.T10=) - TPO_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.38T>C r.(?) p.(Met13Thr) Unknown - VUS g.1418218T>C g.1414446T>C TPO(NM_000547.6):c.38T>C (p.M13T) - TPO_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.94+20C>T r.(=) p.(=) Unknown - benign g.1418294C>T - TPO(NM_001206744.2):c.94+20C>T - TPO_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.95-30G>A r.(=) p.(=) Unknown - benign g.1426787G>A g.1423015G>A TPO(NM_000547.5):c.95-30G>A - TPO_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.95-21G>C r.(=) p.(=) Unknown - benign g.1426796G>C g.1423024G>C TPO(NM_000547.5):c.95-21G>C - TPO_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.180-6C>A r.(=) p.(=) Unknown - benign g.1437204C>A g.1433432C>A TPO(NM_000547.6):c.180-6C>A - TPO_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.208C>G r.(?) p.(Pro70Ala) Unknown - VUS g.1437238C>G g.1433466C>G TPO(NM_000547.5):c.208C>G (p.P70A) - TPO_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.230C>T r.(?) p.(Ser77Phe) Both (homozygous) - VUS g.1437260C>T g.1433488C>T - - TPO_000071 - PubMed: Taylor 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat38 PubMed: Taylor 2014 - M yes Turkey - - - - - 1 Johan den Dunnen
?/. - c.253G>A r.(?) p.(Gly85Arg) Unknown - VUS g.1437283G>A - TPO(NM_001206744.1):c.253G>A (p.(Gly85Arg)) - TPO_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.265C>T r.(?) p.(Arg89*) Unknown - pathogenic g.1437295C>T - TPO(NM_000547.6):c.265C>T (p.R89*) - TPO_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.347C>T r.(?) p.(Thr116Met) Unknown - VUS g.1437377C>T - TPO(NM_001206744.2):c.347C>T (p.T116M) - TPO_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.404C>A r.(?) p.(Pro135His) Unknown - benign g.1440078C>A g.1436306C>A TPO(NM_000547.5):c.404C>A (p.P135H) - TPO_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.409A>C r.(?) p.(Met137Leu) Unknown - VUS g.1440083A>C - TPO(NM_001206744.2):c.409A>C (p.M137L) - TPO_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.414G>C r.(?) p.(Leu138=) Unknown - benign g.1440088G>C - TPO(NM_001206744.2):c.414G>C (p.L138=) - TPO_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.426C>T r.(?) p.(Cys142=) Unknown - benign g.1440100C>T - TPO(NM_001206744.2):c.426C>T (p.C142=) - TPO_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.478A>G r.(?) p.(Asn160Asp) Unknown - VUS g.1440152A>G - TPO(NM_001206744.2):c.478A>G (p.N160D) - TPO_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.482+2409_482+2412del r.(=) p.(=) Unknown - benign g.1442565_1442568del g.1438793_1438796del TPO(NM_000547.6):c.482+2409_482+2412delTTTT - TPO_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.483-3C>G r.spl? p.? Unknown - likely pathogenic g.1457463C>G g.1453691C>G TPO(NM_000547.6):c.483-3C>G - TPO_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.566G>A r.(?) p.(Arg189Gln) Unknown - VUS g.1457549G>A - TPO(NM_000547.5):c.566G>A (p.R189Q) - TPO_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.612+15C>A r.(=) p.(=) Unknown - benign g.1457610C>A g.1453838C>A TPO(NM_000547.6):c.612+15C>A - TPO_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.612+15C>T r.(=) p.(=) Unknown - benign g.1457610C>T g.1453838C>T TPO(NM_000547.6):c.612+15C>T - TPO_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.660C>T r.(?) p.(Val220=) Unknown - benign g.1459895C>T g.1456123C>T TPO(NM_000547.6):c.660C>T (p.V220=) - TPO_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.717C>T r.(?) p.(His239=) Unknown - benign g.1459952C>T - TPO(NM_001206744.2):c.717C>T (p.H239=) - TPO_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.723C>T r.(?) p.(Ile241=) Unknown - benign g.1459958C>T g.1456186C>T TPO(NM_000547.6):c.723C>T (p.I241=) - TPO_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.725C>T r.(?) p.(Ala242Val) Unknown - VUS g.1459960C>T - TPO(NM_001206744.2):c.725C>T (p.A242V) - TPO_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.769G>T r.(?) p.(Ala257Ser) Unknown - benign g.1460004G>T g.1456232G>T TPO(NM_000547.5):c.769G>T (p.A257S), TPO(NM_000547.6):c.769G>T (p.A257S) - TPO_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.769G>T r.(?) p.(Ala257Ser) Unknown - benign g.1460004G>T g.1456232G>T TPO(NM_000547.5):c.769G>T (p.A257S), TPO(NM_000547.6):c.769G>T (p.A257S) - TPO_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.769G>T r.(?) p.(Ala257Ser) Unknown - benign g.1460004G>T g.1456232G>T TPO(NM_000547.5):c.769G>T (p.A257S), TPO(NM_000547.6):c.769G>T (p.A257S) - TPO_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.819+16C>T r.(=) p.(=) Unknown - benign g.1460070C>T - TPO(NM_001206744.2):c.819+16C>T - TPO_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.835C>T r.(?) p.(Arg279Trp) Unknown - likely benign g.1480873C>T g.1477101C>T TPO(NM_001206744.2):c.835C>T (p.R279W) - TPO_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.840G>A r.(?) p.(Pro280=) Unknown - benign g.1480878G>A g.1477106G>A TPO(NM_000547.6):c.840G>A (p.P280=) - TPO_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1032C>G r.(?) p.(Thr344=) Unknown - benign g.1481070C>G g.1477298C>G TPO(NM_000547.6):c.1032C>G (p.T344=) - TPO_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1070G>A r.(?) p.(Arg357Gln) Unknown - VUS g.1481108G>A - TPO(NM_000547.6):c.1070G>A (p.R357Q) - TPO_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1117G>T r.(?) p.(Ala373Ser) Unknown - benign g.1481155G>T g.1477383G>T TPO(NM_000547.5):c.1117G>T (p.A373S), TPO(NM_000547.6):c.1117G>T (p.A373S) - TPO_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1117G>T r.(?) p.(Ala373Ser) Unknown - benign g.1481155G>T g.1477383G>T TPO(NM_000547.5):c.1117G>T (p.A373S), TPO(NM_000547.6):c.1117G>T (p.A373S) - TPO_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1117G>T r.(?) p.(Ala373Ser) Unknown - benign g.1481155G>T g.1477383G>T TPO(NM_000547.5):c.1117G>T (p.A373S), TPO(NM_000547.6):c.1117G>T (p.A373S) - TPO_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1184_1187dup r.(?) p.(Ala397ProfsTer76) Unknown - pathogenic g.1481222_1481225dup g.1477450_1477453dup TPO(NM_000547.5):c.1184_1187dupGCCG (p.A397Pfs*76), TPO(NM_000547.6):c.1184_1187dupGCCG (p.A397Pfs*76), TPO(NM_001206744.1):c.1184_1187dupGCCG (p....) - TPO_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1184_1187dup r.(?) p.(Ala397ProfsTer76) Unknown - pathogenic g.1481222_1481225dup g.1477450_1477453dup TPO(NM_000547.5):c.1184_1187dupGCCG (p.A397Pfs*76), TPO(NM_000547.6):c.1184_1187dupGCCG (p.A397Pfs*76), TPO(NM_001206744.1):c.1184_1187dupGCCG (p....) - TPO_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1184_1187dup r.(?) p.(Ala397ProfsTer76) Unknown - pathogenic g.1481222_1481225dup g.1477450_1477453dup TPO(NM_000547.5):c.1184_1187dupGCCG (p.A397Pfs*76), TPO(NM_000547.6):c.1184_1187dupGCCG (p.A397Pfs*76), TPO(NM_001206744.1):c.1184_1187dupGCCG (p....) - TPO_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1184_1187dup r.(?) p.(Ala397Profs*76) Paternal (confirmed) - pathogenic (recessive) g.1481222_1481225dup - 1184_1187dupGCCG - TPO_000046 - PubMed: Fliedner 2020, Journal: Fliedner 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat3 Fliedner ESHG2020 C02.1, PubMed: Fliedner 2020, Journal: Fliedner 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.1184_1187dup r.(?) p.(Ala397ProfsTer76) Unknown - pathogenic g.1481222_1481225dup - TPO(NM_000547.5):c.1184_1187dupGCCG (p.A397Pfs*76), TPO(NM_000547.6):c.1184_1187dupGCCG (p.A397Pfs*76), TPO(NM_001206744.1):c.1184_1187dupGCCG (p....) - TPO_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1193G>C r.(?) p.(Ser398Thr) Unknown - benign g.1481231G>C g.1477459G>C TPO(NM_000547.5):c.1193G>C (p.S398T), TPO(NM_000547.6):c.1193G>C (p.S398T) - TPO_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1193G>C r.(?) p.(Ser398Thr) Unknown - benign g.1481231G>C g.1477459G>C TPO(NM_000547.5):c.1193G>C (p.S398T), TPO(NM_000547.6):c.1193G>C (p.S398T) - TPO_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1193G>C r.(?) p.(Ser398Thr) Unknown - benign g.1481231G>C g.1477459G>C TPO(NM_000547.5):c.1193G>C (p.S398T), TPO(NM_000547.6):c.1193G>C (p.S398T) - TPO_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1233G>A r.(?) p.(Leu411=) Unknown - benign g.1481271G>A - TPO(NM_000547.6):c.1233G>A (p.L411=) - TPO_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1247G>T r.(?) p.(Arg416Leu) Unknown - VUS g.1481285G>T - TPO(NM_001206744.2):c.1247G>T (p.R416L) - TPO_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1277C>A r.(?) p.(Ala426Glu) Unknown - likely benign g.1481315C>A g.1477543C>A TPO(NM_000547.5):c.1277C>A (p.A426E) - TPO_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1277C>T r.(?) p.(Ala426Val) Unknown - VUS g.1481315C>T - TPO(NM_000547.6):c.1277C>T (p.A426V) - TPO_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1306G>C r.(?) p.(Glu436Gln) Unknown - VUS g.1481344G>C g.1477572G>C TPO(NM_000547.5):c.1306G>C (p.E436Q) - TPO_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1317G>A r.(?) p.(Lys439=) Unknown - likely benign g.1481355G>A - TPO(NM_000547.5):c.1317G>A (p.K439=) - TPO_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1336del r.(?) p.(Gln446Argfs*5) Unknown - pathogenic g.1481374del - TPO(NM_001206744.2):c.1336delC (p.Q446Rfs*5) - TPO_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1357T>G r.(?) p.(Tyr453Asp) Unknown - pathogenic g.1488386T>G g.1484614T>G TPO(NM_000547.5):c.1357T>G (p.Y453D), TPO(NM_001206744.2):c.1357T>G (p.Y453D) - TPO_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1357T>G r.(?) p.(Tyr453Asp) Unknown - likely pathogenic g.1488386T>G g.1484614T>G TPO(NM_000547.5):c.1357T>G (p.Y453D), TPO(NM_001206744.2):c.1357T>G (p.Y453D) - TPO_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1429G>A r.(?) p.(Ala477Thr) Unknown - VUS g.1488458G>A g.1484686G>A TPO(NM_000547.6):c.1429G>A (p.A477T) - TPO_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1450G>A r.(?) p.(Val484Met) Unknown - VUS g.1488479G>A - TPO(NM_000547.6):c.1450G>A (p.V484M) - TPO_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1472G>A r.(?) p.(Arg491His) Paternal (confirmed) - pathogenic (recessive) g.1488501G>A - - - TPO_000072 - PubMed: Fliedner 2020, Journal: Fliedner 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat3 Fliedner ESHG2020 C02.1, PubMed: Fliedner 2020, Journal: Fliedner 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.1477G>A r.(?) p.(Gly493Ser) Unknown - pathogenic g.1488506G>A g.1484734G>A TPO(NM_000547.6):c.1477G>A (p.G493S) - TPO_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1539C>T r.(?) p.(Asp513=) Unknown - benign g.1488568C>T - TPO(NM_001206744.2):c.1539C>T (p.D513=) - TPO_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1566T>C r.(?) p.(Ala522=) Unknown - benign g.1488595T>C g.1484823T>C TPO(NM_000547.6):c.1566T>C (p.A522=) - TPO_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1585T>C r.(?) p.(Leu529=) Unknown - benign g.1488614T>C g.1484842T>C TPO(NM_000547.6):c.1585T>C (p.L529=) - TPO_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1587A>C r.(?) p.(Leu529Phe) Unknown - likely benign g.1488616A>C g.1484844A>C TPO(NM_000547.6):c.1587A>C (p.L529F) - TPO_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1598-18G>A r.(=) p.(=) Unknown - benign g.1491575G>A - TPO(NM_001206744.2):c.1598-18G>A - TPO_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1700T>A r.(?) p.(Leu567Gln) Unknown - VUS g.1491695T>A - TPO(NM_001206744.2):c.1700T>A (p.L567Q) - TPO_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1728G>A r.(?) p.(Ala576=) Unknown - benign g.1491723G>A g.1487951G>A TPO(NM_000547.6):c.1728G>A (p.A576=) - TPO_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1736A>C r.(?) p.(Asn579Thr) Unknown - VUS g.1491731A>C - TPO(NM_001206744.2):c.1736A>C (p.N579T) - TPO_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1750C>T r.(?) p.(Arg584Trp) Unknown - pathogenic g.1491745C>T g.1487973C>T TPO(NM_001206744.2):c.1750C>T (p.R584W) - TPO_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1751G>A r.(?) p.(Arg584Gln) Unknown - VUS g.1491746G>A g.1487974G>A TPO(NM_000547.6):c.1751G>A (p.R584Q) - TPO_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1798C>G r.(?) p.(Leu600Val) Unknown - VUS g.1497603C>G - TPO(NM_001206744.1):c.1798C>G (p.(Leu600Val)) - TPO_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1805G>A r.(?) p.(Arg602His) Unknown - benign g.1497610G>A g.1493838G>A TPO(NM_000547.5):c.1805G>A (p.R602H) - TPO_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1852G>A r.(?) p.(Val618Met) Unknown - benign g.1497657G>A g.1493885G>A TPO(NM_000547.6):c.1852G>A (p.V618M) - TPO_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1857C>G r.(?) p.(Ala619=) Unknown - likely benign g.1497662C>G g.1493890C>G TPO(NM_000547.5):c.1857C>G (p.A619=) - TPO_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1858G>A r.(?) p.(Asp620Asn) Unknown - likely benign g.1497663G>A - TPO(NM_000547.5):c.1858G>A (p.D620N) - TPO_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1942C>T r.(?) p.(Arg648Trp) Unknown - VUS g.1497747C>T - TPO(NM_000547.6):c.1942C>T (p.R648W) - TPO_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1943G>A r.(?) p.(Arg648Gln) Unknown - likely pathogenic g.1497748G>A - TPO(NM_000547.6):c.1943G>A (p.R648Q) - TPO_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1958T>C r.(?) p.(Phe653Ser) Unknown - likely pathogenic g.1497763T>C g.1493991T>C TPO(NM_000547.6):c.1958T>C (p.F653S) - TPO_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1998C>T r.(?) p.(Asp666=) Unknown - benign g.1497803C>T g.1494031C>T TPO(NM_000547.6):c.1998C>T (p.D666=) - TPO_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1998C>T r.(?) p.(Asp666=) Unknown - benign g.1497803C>T g.1494031C>T TPO(NM_000547.6):c.1998C>T (p.D666=) - TPO_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2006+20G>A r.(=) p.(=) Unknown - benign g.1497831G>A g.1494059G>A TPO(NM_000547.6):c.2006+20G>A - TPO_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2007-9_2007-7del r.(=) p.(=) Unknown - benign g.1499752_1499754del g.1495980_1495982del TPO(NM_000547.6):c.2007-9_2007-7delTCT - TPO_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2007-5T>C r.spl? p.? Unknown - likely benign g.1499756T>C - TPO(NM_001206744.2):c.2007-5T>C - TPO_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2077C>T r.(?) p.(Arg693Trp) Unknown - pathogenic g.1499831C>T g.1496059C>T TPO(NM_001206744.2):c.2077C>T (p.R693W) - TPO_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2116A>G r.(?) p.(Met706Val) Unknown - benign g.1499870A>G g.1496098A>G TPO(NM_000547.6):c.2116A>G (p.M706V) - TPO_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2134G>A r.(?) p.(Gly712Ser) Unknown - likely benign g.1499888G>A g.1496116G>A TPO(NM_000547.5):c.2134G>A (p.G712S) - TPO_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2145C>T r.(?) p.(Pro715=) Unknown - benign g.1499899C>T g.1496127C>T TPO(NM_000547.5):c.2145C>T (p.P715=), TPO(NM_000547.6):c.2145C>T (p.P715=) - TPO_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2145C>T r.(?) p.(Pro715=) Unknown - benign g.1499899C>T g.1496127C>T TPO(NM_000547.5):c.2145C>T (p.P715=), TPO(NM_000547.6):c.2145C>T (p.P715=) - TPO_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2145C>T r.(?) p.(Pro715=) Unknown - benign g.1499899C>T g.1496127C>T TPO(NM_000547.5):c.2145C>T (p.P715=), TPO(NM_000547.6):c.2145C>T (p.P715=) - TPO_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2173A>C r.(?) p.(Thr725Pro) Unknown - benign g.1499927A>C g.1496155A>C TPO(NM_000547.5):c.2173A>C (p.T725P), TPO(NM_000547.6):c.2173A>C (p.T725P) - TPO_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2173A>C r.(?) p.(Thr725Pro) Unknown - benign g.1499927A>C g.1496155A>C TPO(NM_000547.5):c.2173A>C (p.T725P), TPO(NM_000547.6):c.2173A>C (p.T725P) - TPO_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2173A>C r.(?) p.(Thr725Pro) Unknown - benign g.1499927A>C g.1496155A>C TPO(NM_000547.5):c.2173A>C (p.T725P), TPO(NM_000547.6):c.2173A>C (p.T725P) - TPO_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2212C>G r.(?) p.(Gln738Glu) Unknown - likely benign g.1499966C>G - TPO(NM_001206744.1):c.2212C>G (p.(Gln738Glu)) - TPO_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2215+5A>C r.spl? p.? Unknown - benign g.1499974A>C g.1496202A>C TPO(NM_000547.6):c.2215+5A>C - TPO_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2215+10G>A r.(=) p.(=) Unknown - benign g.1499979G>A - TPO(NM_001206744.2):c.2215+10G>A - TPO_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2215+16C>T r.(=) p.(=) Unknown - benign g.1499985C>T g.1496213C>T TPO(NM_000547.6):c.2215+16C>T - TPO_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2218_2220del r.(?) p.(Asp740del) Unknown - VUS g.1500369_1500371del g.1496597_1496599del TPO(NM_000547.5):c.2216-1_2217delGAC - TPO_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2242G>A r.(?) p.(Val748Met) Unknown - benign g.1500393G>A g.1496621G>A TPO(NM_000547.6):c.2242G>A (p.V748M) - TPO_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2268dup r.(?) p.(Glu757Ter) Unknown - pathogenic g.1500419dup g.1496647dup TPO(NM_000547.6):c.2268dupT (p.E757*) - TPO_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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