All variants in the TNFRSF1A gene

Information The variants shown are described using the NM_001065.3 transcript reference sequence.

182 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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     
-/. - c.15C>T r.(?) p.(Thr5=) - benign g.6450966G>A g.6341800G>A TNFRSF1A(NM_001065.3):c.15C>T (p.T5=) - TNFRSF1A_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.36A>G r.(?) p.(Pro12=) - benign g.6450945T>C g.6341779T>C TNFRSF1A(NM_001065.3):c.36A>G (p.P12=), TNFRSF1A(NM_001065.4):c.36A>G (p.P12=) - TNFRSF1A_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.36A>G r.(?) p.(Pro12=) - benign g.6450945T>C g.6341779T>C TNFRSF1A(NM_001065.3):c.36A>G (p.P12=), TNFRSF1A(NM_001065.4):c.36A>G (p.P12=) - TNFRSF1A_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.39+97G>A r.(=) p.(=) - likely benign g.6450845C>T g.6341679C>T TNFRSF1A(NM_001065.3):c.39+97G>A - TNFRSF1A_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.40-3367C>T r.(=) p.(=) - benign g.6446777G>A g.6337611G>A TNFRSF1A(NM_001065.3):c.40-3367C>T - TNFRSF1A_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.40-981C>T r.(=) p.(=) - likely benign g.6444391G>A g.6335225G>A TNFRSF1A(NM_001065.3):c.40-981C>T - TNFRSF1A_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.59T>C r.(?) p.(Val20Ala) - VUS g.6443391A>G g.6334225A>G TNFRSF1A(NM_001065.3):c.59T>C (p.V20A) - TNFRSF1A_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.123T>G r.(?) p.(Asp41Glu) - VUS g.6443327A>C g.6334161A>C TNFRSF1A(NM_001065.3):c.123T>G (p.D41E), TNFRSF1A(NM_001065.4):c.123T>G (p.(Asp41Glu), p.D41E) - TNFRSF1A_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.123T>G r.(?) p.(Asp41Glu) - VUS g.6443327A>C g.6334161A>C TNFRSF1A(NM_001065.3):c.123T>G (p.D41E), TNFRSF1A(NM_001065.4):c.123T>G (p.(Asp41Glu), p.D41E) - TNFRSF1A_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.123T>G r.(?) p.(Asp41Glu) - VUS g.6443327A>C - TNFRSF1A(NM_001065.3):c.123T>G (p.D41E), TNFRSF1A(NM_001065.4):c.123T>G (p.(Asp41Glu), p.D41E) - TNFRSF1A_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.123T>G r.(?) p.(Asp41Glu) - likely pathogenic g.6443327A>C - TNFRSF1A(NM_001065.3):c.123T>G (p.D41E), TNFRSF1A(NM_001065.4):c.123T>G (p.(Asp41Glu), p.D41E) - TNFRSF1A_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.131G>A r.(?) p.(Cys44Tyr) - pathogenic g.6443319C>T g.6334153C>T TNFRSF1A(NM_001065.3):c.131G>A (p.C44Y) - TNFRSF1A_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.145T>C r.(?) p.(Tyr49His) - pathogenic g.6443305A>G g.6334139A>G TNFRSF1A(NM_001065.3):c.145T>C (p.Y49H) - TNFRSF1A_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.145T>G r.(?) p.(Tyr49Asp) - pathogenic g.6443305A>C g.6334139A>C TNFRSF1A(NM_001065.3):c.145T>G (p.Y49D) - TNFRSF1A_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.146A>G r.(?) p.(Tyr49Cys) - likely pathogenic g.6443304T>C g.6334138T>C TNFRSF1A(NM_001065.3):c.146A>G (p.Y49C) - TNFRSF1A_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.151C>T r.(?) p.(His51Tyr) - pathogenic g.6443299G>A g.6334133G>A TNFRSF1A(NM_001065.3):c.151C>T (p.H51Y) - TNFRSF1A_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.151C>T r.(?) p.(His51Tyr) - pathogenic g.6443299G>A - TNFRSF1A(NM_001065.3):c.151C>T (p.H51Y) - TNFRSF1A_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.152A>G r.(?) p.(His51Arg) - likely pathogenic g.6443298T>C g.6334132T>C TNFRSF1A(NM_001065.3):c.152A>G (p.H51R) - TNFRSF1A_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.153C>G r.(?) p.(His51Gln) - VUS g.6443297G>C g.6334131G>C TNFRSF1A(NM_001065.3):c.153C>G (p.H51Q) - TNFRSF1A_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.160A>G r.(?) p.(Asn54Asp) - VUS g.6443290T>C g.6334124T>C TNFRSF1A(NM_001065.3):c.160A>G (p.N54D) - TNFRSF1A_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.168G>A r.(?) p.(Ser56=) - likely benign g.6443282C>T g.6334116C>T TNFRSF1A(NM_001065.3):c.168G>A (p.S56=) - TNFRSF1A_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.168G>A r.(?) p.(Ser56=) - likely benign g.6443282C>T - TNFRSF1A(NM_001065.3):c.168G>A (p.S56=) - TNFRSF1A_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.170T>G r.(?) p.(Ile57Ser) - VUS g.6443280A>C g.6334114A>C TNFRSF1A(NM_001065.3):c.170T>G (p.I57S) - TNFRSF1A_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.172T>C r.(?) p.(Cys58Arg) - pathogenic g.6443278A>G g.6334112A>G TNFRSF1A(NM_001065.3):c.172T>C (p.C58R) - TNFRSF1A_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.172T>G r.(?) p.(Cys58Gly) - pathogenic g.6443278A>C g.6334112A>C TNFRSF1A(NM_001065.3):c.172T>G (p.C58G) - TNFRSF1A_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.173G>A r.(?) p.(Cys58Tyr) - pathogenic g.6443277C>T g.6334111C>T TNFRSF1A(NM_001065.3):c.173G>A (p.C58Y) - TNFRSF1A_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.173G>C r.(?) p.(Cys58Ser) - pathogenic g.6443277C>G g.6334111C>G TNFRSF1A(NM_001065.3):c.173G>C (p.C58S) - TNFRSF1A_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.173G>T r.(?) p.(Cys58Phe) - pathogenic g.6443277C>A g.6334111C>A TNFRSF1A(NM_001065.3):c.173G>T (p.C58F) - TNFRSF1A_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.175T>C r.(?) p.(Cys59Arg) - pathogenic g.6443275A>G g.6334109A>G TNFRSF1A(NM_001065.3):c.175T>C (p.C59R) - TNFRSF1A_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.176G>A r.(?) p.(Cys59Tyr) - pathogenic g.6443274C>T g.6334108C>T TNFRSF1A(NM_001065.3):c.176G>A (p.C59Y) - TNFRSF1A_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.176G>C r.(?) p.(Cys59Ser) - pathogenic g.6443274C>G g.6334108C>G TNFRSF1A(NM_001065.3):c.176G>C (p.C59S) - TNFRSF1A_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.176G>T r.(?) p.(Cys59Phe) - pathogenic g.6443274C>A g.6334108C>A TNFRSF1A(NM_001065.3):c.176G>T (p.C59F) - TNFRSF1A_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.184T>G r.(?) p.(Cys62Gly) - pathogenic g.6443266A>C g.6334100A>C TNFRSF1A(NM_001065.3):c.184T>G (p.C62G) - TNFRSF1A_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.185G>A r.(?) p.(Cys62Tyr) - pathogenic g.6443265C>T g.6334099C>T TNFRSF1A(NM_001065.3):c.185G>A (p.C62Y) - TNFRSF1A_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.194-80C>T r.(=) p.(=) - likely benign g.6443111G>A g.6333945G>A TNFRSF1A(NM_001065.3):c.194-80C>T - TNFRSF1A_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.194-29G>A r.(=) p.(=) - likely benign g.6443060C>T g.6333894C>T TNFRSF1A(NM_001065.3):c.194-29G>A - TNFRSF1A_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.194-18_194-17del r.(=) p.(=) - likely benign g.6443050_6443051del g.6333884_6333885del TNFRSF1A(NM_001065.3):c.194-18_194-17delCT - TNFRSF1A_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.194-15C>T r.(=) p.(=) - likely benign g.6443046G>A g.6333880G>A TNFRSF1A(NM_001065.3):c.194-15C>T - TNFRSF1A_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.194-14G>A r.(=) p.(=) - pathogenic g.6443045C>T g.6333879C>T TNFRSF1A(NM_001065.3):c.194-14G>A - TNFRSF1A_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.194G>A r.(?) p.(Gly65Glu) - likely pathogenic g.6443031C>T g.6333865C>T TNFRSF1A(NM_001065.3):c.194G>A (p.G65E) - TNFRSF1A_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.197C>T r.(?) p.(Thr66Ile) - VUS g.6443028G>A g.6333862G>A TNFRSF1A(NM_001065.3):c.197C>T (p.T66I) - TNFRSF1A_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.200A>C r.(?) p.(Tyr67Ser) - likely pathogenic g.6443025T>G g.6333859T>G TNFRSF1A(NM_001065.3):c.200A>C (p.Y67S) - TNFRSF1A_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.200A>G r.(?) p.(Tyr67Cys) - pathogenic g.6443025T>C g.6333859T>C TNFRSF1A(NM_001065.3):c.200A>G (p.Y67C) - TNFRSF1A_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.204G>C r.(?) p.(Leu68Phe) - likely pathogenic g.6443021C>G g.6333855C>G TNFRSF1A(NM_001065.3):c.204G>C (p.L68F) - TNFRSF1A_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.211_213del r.(?) p.(Asp71del) - pathogenic g.6443012_6443014del g.6333846_6333848del TNFRSF1A(NM_001065.3):c.211_213delGAC (p.D71del) - TNFRSF1A_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.213C>A r.(?) p.(Asp71Glu) - VUS g.6443012G>T g.6333846G>T TNFRSF1A(NM_001065.3):c.213C>A (p.D71E) - TNFRSF1A_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.214T>C r.(?) p.(Cys72Arg) - pathogenic g.6443011A>G g.6333845A>G TNFRSF1A(NM_001065.3):c.214T>C (p.C72R) - TNFRSF1A_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.215G>A r.(?) p.(Cys72Tyr) - pathogenic g.6443010C>T g.6333844C>T TNFRSF1A(NM_001065.3):c.215G>A (p.C72Y) - TNFRSF1A_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.215G>C r.(?) p.(Cys72Ser) - pathogenic g.6443010C>G g.6333844C>G TNFRSF1A(NM_001065.3):c.215G>C (p.C72S) - TNFRSF1A_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.215G>T r.(?) p.(Cys72Phe) - pathogenic g.6443010C>A g.6333844C>A TNFRSF1A(NM_001065.3):c.215G>T (p.C72F) - TNFRSF1A_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.224C>T r.(?) p.(Pro75Leu) - likely benign g.6443001G>A g.6333835G>A TNFRSF1A(NM_001065.3):c.224C>T (p.P75L) - TNFRSF1A_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.228G>A r.(?) p.(Gly76=) - likely benign g.6442997C>T g.6333831C>T TNFRSF1A(NM_001065.3):c.228G>A (p.G76=) - TNFRSF1A_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.236C>T r.(?) p.(Thr79Met) - pathogenic g.6442989G>A g.6333823G>A TNFRSF1A(NM_001065.3):c.236C>T (p.T79M) - TNFRSF1A_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.241T>C r.(?) p.(Cys81Arg) - pathogenic g.6442984A>G g.6333818A>G TNFRSF1A(NM_001065.3):c.241T>C (p.C81R) - TNFRSF1A_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.242G>A r.(?) p.(Cys81Tyr) - pathogenic g.6442983C>T g.6333817C>T TNFRSF1A(NM_001065.3):c.242G>A (p.C81Y) - TNFRSF1A_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.242G>C r.(?) p.(Cys81Ser) - pathogenic g.6442983C>G g.6333817C>G TNFRSF1A(NM_001065.3):c.242G>C (p.C81S) - TNFRSF1A_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.242G>T r.(?) p.(Cys81Phe) - pathogenic g.6442983C>A g.6333817C>A TNFRSF1A(NM_001065.3):c.242G>T (p.C81F) - TNFRSF1A_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.243C>G r.(?) p.(Cys81Trp) - pathogenic g.6442982G>C g.6333816G>C TNFRSF1A(NM_001065.3):c.243C>G (p.C81W) - TNFRSF1A_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.244A>G r.(?) p.(Arg82Gly) - VUS g.6442981T>C g.6333815T>C TNFRSF1A(NM_001065.3):c.244A>G (p.R82G) - TNFRSF1A_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.249G>A r.(?) p.(Glu83=) - likely benign g.6442976C>T g.6333810C>T TNFRSF1A(NM_001065.3):c.249G>A (p.E83=) - TNFRSF1A_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.249G>A r.(?) p.(Glu83=) - VUS g.6442976C>T - TNFRSF1A(NM_001065.3):c.249G>A (p.E83=) - TNFRSF1A_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.250T>C r.(?) p.(Cys84Arg) - pathogenic g.6442975A>G g.6333809A>G TNFRSF1A(NM_001065.3):c.250T>C (p.C84R) - TNFRSF1A_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.251G>A r.(?) p.(Cys84Tyr) - pathogenic g.6442974C>T g.6333808C>T TNFRSF1A(NM_001065.3):c.251G>A (p.C84Y) - TNFRSF1A_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.251G>C r.(?) p.(Cys84Ser) - pathogenic g.6442974C>G g.6333808C>G TNFRSF1A(NM_001065.3):c.251G>C (p.C84S) - TNFRSF1A_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.255G>C r.(?) p.(Glu85Asp) - likely pathogenic g.6442970C>G g.6333804C>G TNFRSF1A(NM_001065.3):c.255G>C (p.E85D) - TNFRSF1A_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.255_278del r.(?) p.(Ser86_Glu93del) - pathogenic g.6442949_6442972del g.6333783_6333806del TNFRSF1A(NM_001065.3):c.255_278delGAGCGGCTCCTTCACCGCTTCAGA (p.S86_E93del) - TNFRSF1A_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.259G>A r.(?) p.(Gly87Ser) - VUS g.6442966C>T g.6333800C>T TNFRSF1A(NM_001065.3):c.259G>A (p.G87S) - TNFRSF1A_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.262T>C r.(?) p.(Ser88Pro) - pathogenic g.6442963A>G g.6333797A>G TNFRSF1A(NM_001065.3):c.262T>C (p.S88P) - TNFRSF1A_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.265T>C r.(?) p.(Phe89Leu) - pathogenic g.6442960A>G g.6333794A>G TNFRSF1A(NM_001065.3):c.265T>C (p.F89L) - TNFRSF1A_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.265T>G r.(?) p.(Phe89Val) - pathogenic g.6442960A>C g.6333794A>C TNFRSF1A(NM_001065.3):c.265T>G (p.F89V) - TNFRSF1A_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.266T>C r.(?) p.(Phe89Ser) - likely pathogenic g.6442959A>G g.6333793A>G TNFRSF1A(NM_001065.3):c.266T>C (p.F89S) - TNFRSF1A_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.267C>A r.(?) p.(Phe89Leu) - pathogenic g.6442958G>T g.6333792G>T TNFRSF1A(NM_001065.3):c.267C>A (p.F89L) - TNFRSF1A_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.269C>A r.(?) p.(Thr90Asn) - pathogenic g.6442956G>T g.6333790G>T TNFRSF1A(NM_001065.3):c.269C>A (p.T90N) - TNFRSF1A_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.281A>T r.(?) p.(Asn94Ile) - pathogenic g.6442944T>A g.6333778T>A TNFRSF1A(NM_001065.3):c.281A>T (p.N94I) - TNFRSF1A_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.282C>G r.(?) p.(Asn94Lys) - likely pathogenic g.6442943G>C g.6333777G>C TNFRSF1A(NM_001065.3):c.282C>G (p.N94K) - TNFRSF1A_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.283C>T r.(?) p.(His95Tyr) - likely pathogenic g.6442942G>A g.6333776G>A TNFRSF1A(NM_001065.3):c.283C>T (p.H95Y) - TNFRSF1A_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.284A>C r.(?) p.(His95Pro) - likely pathogenic g.6442941T>G g.6333775T>G TNFRSF1A(NM_001065.3):c.284A>C (p.H95P) - TNFRSF1A_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.284A>T r.(?) p.(His95Leu) - likely pathogenic g.6442941T>A g.6333775T>A TNFRSF1A(NM_001065.3):c.284A>T (p.H95L) - TNFRSF1A_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.287T>C r.(?) p.(Leu96Pro) - pathogenic g.6442938A>G g.6333772A>G TNFRSF1A(NM_001065.3):c.287T>C (p.L96P) - TNFRSF1A_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.293_295del r.(?) p.(His98_Cys99delinsArg) - pathogenic g.6442930_6442932del g.6333764_6333766del TNFRSF1A(NM_001065.3):c.293_295delACT (p.H98_C99delinsR) - TNFRSF1A_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.295T>A r.(?) p.(Cys99Ser) - pathogenic g.6442930A>T g.6333764A>T TNFRSF1A(NM_001065.3):c.295T>A (p.C99S) - TNFRSF1A_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.295T>C r.(?) p.(Cys99Arg) - pathogenic g.6442930A>G g.6333764A>G TNFRSF1A(NM_001065.3):c.295T>C (p.C99R) - TNFRSF1A_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.295T>G r.(?) p.(Cys99Gly) - pathogenic g.6442930A>C g.6333764A>C TNFRSF1A(NM_001065.3):c.295T>G (p.C99G) - TNFRSF1A_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.296G>A r.(?) p.(Cys99Tyr) - pathogenic g.6442929C>T g.6333763C>T TNFRSF1A(NM_001065.3):c.296G>A (p.C99Y) - TNFRSF1A_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.304T>C r.(?) p.(Cys102Arg) - pathogenic g.6442921A>G g.6333755A>G TNFRSF1A(NM_001065.3):c.304T>C (p.C102R) - TNFRSF1A_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.306C>G r.(?) p.(Cys102Trp) - pathogenic g.6442919G>C g.6333753G>C TNFRSF1A(NM_001065.3):c.306C>G (p.C102W) - TNFRSF1A_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.308C>G r.(?) p.(Ser103Cys) - likely pathogenic g.6442917G>C g.6333751G>C TNFRSF1A(NM_001065.3):c.308C>G (p.S103C) - TNFRSF1A_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.314G>A r.(?) p.(Cys105Tyr) - pathogenic g.6442911C>T g.6333745C>T TNFRSF1A(NM_001065.3):c.314G>A (p.C105Y) - TNFRSF1A_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.323-32A>G r.(=) p.(=) - likely benign g.6442714T>C g.6333548T>C TNFRSF1A(NM_001065.3):c.323-32A>G - TNFRSF1A_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.323-19C>T r.(=) p.(=) - likely benign g.6442701G>A g.6333535G>A TNFRSF1A(NM_001065.3):c.323-19C>T - TNFRSF1A_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.331C>A r.(?) p.(Gln111Lys) - VUS g.6442674G>T g.6333508G>T TNFRSF1A(NM_001065.3):c.331C>A (p.Q111K) - TNFRSF1A_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.332A>G r.(?) p.(Gln111Arg) - likely pathogenic g.6442673T>C - - - TNFRSF1A_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.334G>A r.(?) p.(Val112Met) - VUS g.6442671C>T g.6333505C>T TNFRSF1A(NM_001065.3):c.334G>A (p.V112M) - TNFRSF1A_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.334G>A r.(?) p.(Val112Met) - VUS g.6442671C>T - TNFRSF1A(NM_001065.3):c.334G>A (p.V112M) - TNFRSF1A_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.334G>T r.(?) p.(Val112Leu) - VUS g.6442671C>A g.6333505C>A TNFRSF1A(NM_001065.3):c.334G>T (p.V112L) - TNFRSF1A_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.343T>C r.(?) p.(Ser115Pro) - pathogenic g.6442662A>G g.6333496A>G TNFRSF1A(NM_001065.3):c.343T>C (p.S115P) - TNFRSF1A_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.349T>C r.(?) p.(Cys117Arg) - pathogenic g.6442656A>G g.6333490A>G TNFRSF1A(NM_001065.3):c.349T>C (p.C117R) - TNFRSF1A_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.350G>A r.(?) p.(Cys117Tyr) - pathogenic g.6442655C>T g.6333489C>T TNFRSF1A(NM_001065.3):c.350G>A (p.C117Y) - TNFRSF1A_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.350_351delinsCA r.(?) p.(Cys117Ser) - pathogenic g.6442654_6442655delinsTG g.6333488_6333489delinsTG TNFRSF1A(NM_001065.3):c.350_351delGCinsCA (p.C117S) - TNFRSF1A_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.352A>G r.(?) p.(Thr118Ala) - likely pathogenic g.6442653T>C g.6333487T>C TNFRSF1A(NM_001065.3):c.352A>G (p.T118A) - PLEKHG6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.