All transcript variants in gene COX14

Information The variants shown are described using the NM_032901.3 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.-7673G>A likely benign r.(?) p.(=) g.50498420G>A - GPD1(NM_005276.3):c.105G>A (p.R35=) - COX14_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-7644T>C likely benign r.(?) p.(=) g.50498449T>C - GPD1(NM_005276.3):c.134T>C (p.I45T) - COX14_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-7619C>A likely benign r.(?) p.(=) g.50498474C>A - GPD1(NM_005276.3):c.159C>A (p.I53=) - COX14_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-7618A>G likely benign r.(?) p.(=) g.50498475A>G - GPD1(NM_005276.3):c.160A>G (p.I54V) - COX14_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-7539G>A likely benign r.(?) p.(=) g.50498554G>A - GPD1(NM_005276.3):c.219+20G>A - COX14_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-6746T>G VUS r.(?) p.(=) g.50499347T>G - GPD1(NM_005276.3):c.236T>G (p.V79G) - COX14_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-6646C>T likely benign r.(?) p.(=) g.50499447C>T - GPD1(NM_005276.3):c.336C>T (p.N112=) - COX14_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.-6136G>A benign r.(?) p.(=) g.50499957G>A - GPD1(NM_005276.3):c.361-114G>A - COX14_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-6078G>A likely benign r.(?) p.(=) g.50500015G>A - GPD1(NM_005276.3):c.361-56G>A - COX14_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-6022G>A likely benign r.(?) p.(=) g.50500071G>A - GPD1(NM_005276.3):c.361G>A (p.G121R) - COX14_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-6013G>A likely benign r.(?) p.(=) g.50500080G>A - GPD1(NM_005276.3):c.370G>A (p.E124K) - COX14_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-6003A>G likely benign r.(?) p.(=) g.50500090A>G - GPD1(NM_005276.3):c.380A>G (p.N127S) - COX14_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-5952T>C VUS r.(?) p.(=) g.50500141T>C - GPD1(NM_005276.3):c.431T>C (p.M144T) - COX14_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-5921C>T likely benign r.(?) p.(=) g.50500172C>T - GPD1(NM_005276.3):c.462C>T (p.S154=) - COX14_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-5712A>T likely benign r.(?) p.(=) g.50500381A>T - GPD1(NM_005276.3):c.499+172A>T - COX14_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-5505G>A VUS r.(?) p.(=) g.50500588G>A - - - COX14_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-5415T>C VUS r.(?) p.(=) g.50500678T>C - GPD1(NM_005276.3):c.590T>C (p.V197A) - COX14_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-5393G>A VUS r.(?) p.(=) g.50500700G>A - GPD1(NM_005276.3):c.612G>A (p.K204=) - COX14_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-4662C>T VUS r.(?) p.(=) g.50501431C>T - GPD1(NM_005276.3):c.694C>T (p.L232F) - COX14_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-4641G>A VUS r.(?) p.(=) g.50501452G>A - GPD1(NM_005276.3):c.715G>A (p.A239T) - COX14_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-4588T>G VUS r.(?) p.(=) g.50501505T>G - GPD1(NM_001257199.1):c.699T>G (p.(Cys233Trp)), GPD1(NM_005276.3):c.768T>G (p.C256W) - COX14_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.-4588T>G likely benign r.(?) p.(=) g.50501505T>G - GPD1(NM_001257199.1):c.699T>G (p.(Cys233Trp)), GPD1(NM_005276.3):c.768T>G (p.C256W) - COX14_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-4580C>G VUS r.(?) p.(=) g.50501513C>G - GPD1(NM_005276.3):c.776C>G (p.A259G) - COX14_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-4500G>A likely benign r.(?) p.(=) g.50501593G>A - GPD1(NM_005276.3):c.846+10G>A - COX14_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-4274C>G VUS r.(?) p.(=) g.50501819C>G - GPD1(NM_005276.3):c.859C>G (p.L287V) - COX14_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-4233C>T likely benign r.(?) p.(=) g.50501860C>T - GPD1(NM_005276.3):c.900C>T (p.P300=) - COX14_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-4228C>T VUS r.(?) p.(=) g.50501865C>T - GPD1(NM_005276.3):c.905C>T (p.T302I) - COX14_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-4191C>A likely benign r.(?) p.(=) g.50501902C>A - GPD1(NM_005276.3):c.942C>A (p.G314=) - COX14_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-4166del likely benign r.(?) p.(=) g.50501927del - GPD1(NM_005276.3):c.953+14delA - COX14_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-4161C>G likely benign r.(?) p.(=) g.50501932C>G - GPD1(NM_005276.3):c.953+19C>G - COX14_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-3152del likely benign r.(?) p.(=) g.50502941del - GPD1(NM_005276.3):c.954-265delA - COX14_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.-3011A>G benign r.(?) p.(=) g.50503082A>G - GPD1(NM_005276.3):c.954-124A>G - COX14_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-2874A>G VUS r.(?) p.(=) g.50503219A>G - GPD1(NM_005276.3):c.967A>G (p.M323V) - COX14_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.-2824C>T benign r.(?) p.(=) g.50503269C>T - GPD1(NM_005276.3):c.1017C>T (p.I339=) - COX14_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.-2815G>A benign r.(?) p.(=) g.50503278G>A - GPD1(NM_005276.3):c.1026G>A (p.L342=) - COX14_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-2774G>A likely benign r.(?) p.(=) g.50503319G>A - GPD1(NM_005276.3):c.*17G>A - COX14_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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