Full data view for gene COCH

Information The variants shown are described using the NM_004086.2 transcript reference sequence.

84 entries on 1 page. Showing entries 1 - 84.
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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     

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Population     

Age at death     

VIP     

Data_av     

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Panel size     

Owner     
?/. - c.7G>C r.(?) p.(Ala3Pro) Unknown - VUS g.31344151G>C g.30874945G>C - - COCH_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.113G>A r.(?) p.(Gly38Asp) Parent #1 - pathogenic (dominant) g.31346808G>A g.30877602G>A G113A - COCH_000028 - PubMed: Choi 2013 - - Germline yes - - - - DNA ? - - HL SH20-47 PubMed: Choi 2013 family, 5 affected - - Korea - - - - - 5 Global Variome, with Curator vacancy
-?/. - c.126G>C r.(?) p.(Arg42Ser) Unknown - likely benign g.31346821G>C g.30877615G>C - - COCH_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.141T>C r.(?) p.(Asp47=) Unknown - likely benign g.31346836T>C g.30877630T>C COCH(NM_001347720.1):c.336T>C (p.D112=) - COCH_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 4 c.141T>C r.(=) p.(=) Parent #1 - likely benign g.31346836T>C g.30877630T>C - - COCH_000024 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.151C>T r.(?) p.(Pro51Ser) Unknown - pathogenic g.31346846C>T g.30877640C>T COCH(NM_001135058.1):c.151C>T (p.P51S), COCH(NM_001135058.2):c.151C>T (p.P51S) - COCH_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.151C>T r.(?) p.(Pro51Ser) Unknown - pathogenic g.31346846C>T g.30877640C>T COCH(NM_001135058.1):c.151C>T (p.P51S), COCH(NM_001135058.2):c.151C>T (p.P51S) - COCH_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.151C>T r.(?) p.(Pro51Ser) Unknown - pathogenic g.31346846C>T g.30877640C>T COCH(NM_001135058.1):c.151C>T (p.P51S), COCH(NM_001135058.2):c.151C>T (p.P51S) - COCH_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.151C>T r.(?) p.(Pro51Ser) Parent #1 - pathogenic g.31346846C>T g.30877640C>T - - COCH_000004 - MORL Deafness Variation Database, PubMed: Bischoff 2005, PubMed: Robertson 2006, PubMed: Fransen 2001, PubMed: Shearer 1993, PubMed: Duzkale 2013, PubMed: Fransen 1999, PubMed: de Kok 1999, PubMed: Hildebrand 2009 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Bischoff 2005, PubMed: Robertson 2006, PubMed: Fransen 2001, PubMed: Shearer 1993, PubMed: Duzkale 2013, PubMed: Fransen 1999, PubMed: de Kok 1999, PubMed: Hildebrand 2009 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.151C>T r.(?) p.(Pro51Ser) Parent #1 - pathogenic g.31346846C>T g.30877640C>T - - COCH_000004 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs28938175 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.163C>G r.(?) p.(Pro55Ala) Unknown - VUS g.31346858C>G - COCH(NM_001347720.1):c.358C>G (p.P120A) - COCH_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.197T>G r.(?) p.(Val66Gly) Parent #1 - pathogenic g.31346892T>G g.30877686T>G - - COCH_000029 - MORL Deafness Variation Database, PubMed: Manolis 1996, PubMed: Robertson 1998, PubMed: Shearer 1993 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Manolis 1996, PubMed: Robertson 1998, PubMed: Shearer 1993 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.202G>C r.(?) p.(Ala68Pro) Unknown - likely pathogenic g.31346897G>C g.30877691G>C - - COCH_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.226G>A r.(?) p.(Ala76Thr) Unknown - VUS g.31346921G>A - - - COCH_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 4i c.239+7C>G r.(=) p.(=) Parent #1 - likely benign g.31346941C>G g.30877735C>G - - COCH_000030 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.257C>T r.(?) p.(Ser86Leu) Unknown - likely benign g.31348034C>T g.30878828C>T - - COCH_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.259G>T r.(?) p.(Gly87Trp) Unknown - pathogenic g.31348036G>T g.30878830G>T COCH(NM_001135058.1):c.259G>T (p.G87W) - COCH_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.259G>T r.(?) p.(Gly87Trp) Unknown - likely pathogenic g.31348036G>T g.30878830G>T COCH(NM_001135058.1):c.259G>T (p.G87W) - COCH_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.259G>T r.(?) p.(Gly87Trp) Parent #1 - pathogenic g.31348036G>T g.30878830G>T - - COCH_000005 - MORL Deafness Variation Database, PubMed: Collin 2006 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Collin 2006 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 5 c.260G>T r.(?) p.(Gly87Val) Parent #1 - pathogenic g.31348037G>T g.30878831G>T - - COCH_000031 - MORL Deafness Variation Database, PubMed: Yang 2013 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Yang 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.263G>A r.(?) p.(Gly88Glu) Unknown - pathogenic g.31348040G>A g.30878834G>A - - COCH_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.263G>A r.(?) p.(Gly88Glu) Parent #1 - pathogenic g.31348040G>A g.30878834G>A - - COCH_000014 - MORL Deafness Variation Database, PubMed: Shearer 1993, PubMed: Robertson 1998, PubMed: Tsukada 2015 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Shearer 1993, PubMed: Robertson 1998, PubMed: Tsukada 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/? 5 c.263G>T r.(?) p.(Gly88Val) Parent #1 - VUS g.31348040G>T g.30878834G>T - - COCH_000032 - MORL Deafness Variation Database, PubMed: Robertson 1998, PubMed: Duzkale 2013, PubMed: Yao 2010 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Robertson 1998, PubMed: Duzkale 2013, PubMed: Yao 2010 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.266C>A r.(?) p.(Pro89His) Unknown - likely benign g.31348043C>A g.30878837C>A - - COCH_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.266C>A r.(?) p.(Pro89His) Parent #1 - pathogenic g.31348043C>A g.30878837C>A - - COCH_000015 - MORL Deafness Variation Database, PubMed: Dodson 2012 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Dodson 2012 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.288T>C r.(?) p.(Pro96=) Unknown - likely benign g.31348065T>C g.30878859T>C COCH(NM_001347720.1):c.483T>C (p.P161=) - COCH_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.292C>T r.292c>u|<0.1 p.(Arg98*) Both (homozygous) - pathogenic (recessive) g.31348069C>T g.30878863C>T - - COCH_000062 - PubMed: Janssens de Varebeke 2021 - - Germline yes - - - - DNA SEQ, SEQ-NG - 98-gene panel HL FamAI PubMed: Janssens de Varebeke 2021 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M - Belgium Morocco - - - - 2 Johan den Dunnen
+/+ 5 c.311_313del r.(?) p.(Val104del) Parent #1 - pathogenic g.31348088_31348090del g.30878882_30878884del - - COCH_000033 - MORL Deafness Variation Database, PubMed: Nagy 2004 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Nagy 2004 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 5 c.326T>A r.(?) p.(Ile109Asn) Parent #1 - pathogenic g.31348103T>A g.30878897T>A - - COCH_000034 - MORL Deafness Variation Database, PubMed: Shearer 1993, PubMed: Grabski 2003, PubMed: Kamarinos 2001 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Shearer 1993, PubMed: Grabski 2003, PubMed: Kamarinos 2001 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.326T>C r.(?) p.(Ile109Thr) Unknown - likely pathogenic g.31348103T>C g.30878897T>C - - COCH_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.326T>C r.(?) p.(Ile109Thr) Parent #1 - pathogenic g.31348103T>C g.30878897T>C - - COCH_000026 - MORL Deafness Variation Database, PubMed: Pauw 2007 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Pauw 2007 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 5 c.326T>C r.(?) p.(Ile109Thr) Unknown - pathogenic g.31348103T>C - c.326T>C - COCH_000026 - - - rs1219089 Germline - - - - - DNA SEQ, SEQ-NG peripheral blood - retinal disease XIV PubMed: Lerat-2019 - F - France French - - - - 1 LOVD
+/. 5 c.341T>C r.(?) p.(Leu114Pro) Parent #1 - pathogenic (dominant) g.31348118T>C g.30878912T>C T341C - COCH_000035 - PubMed: Choi 2013 - - Germline yes - - - - DNA ? - - HL SB50-94 PubMed: Choi 2013 family, 3 affected - - Korea - - - - - 3 Global Variome, with Curator vacancy
+/+ 5 c.349T>C r.(?) p.(Trp117Arg) Parent #1 - pathogenic g.31348126T>C g.30878920T>C - - COCH_000036 - MORL Deafness Variation Database, PubMed: Shearer 1993, PubMed: Robertson 1998 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Shearer 1993, PubMed: Robertson 1998 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 5 c.355G>A r.(?) p.(Ala119Thr) Parent #1 - pathogenic g.31348132G>A g.30878926G>A - - COCH_000037 - MORL Deafness Variation Database, PubMed: Shearer 1993, PubMed: Usami 2003 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Shearer 1993, PubMed: Usami 2003 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.361T>C r.(?) p.(Phe121Leu) Unknown - likely pathogenic g.31348138T>C g.30878932T>C - - COCH_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.362T>C r.(?) p.(Phe121Ser) Parent #1 - pathogenic g.31348139T>C g.30878933T>C - - COCH_000038 - MORL Deafness Variation Database, PubMed: Hildebrand 2010 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Hildebrand 2010 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.368T>A r.(?) p.(Val123Glu) Unknown - pathogenic g.31348145T>A g.30878939T>A - - COCH_000001 - - - - Germline yes - - - - DNA SEQ-NG-I Blood - DFNA1 - - DFNA9 M - Korea, South (Republic) Asian - - 52 - 1 Han Sang Kim
+/. 5 c.368T>A r.(?) p.(Val123Glu) Unknown - pathogenic g.31348145T>A g.30878939T>A - - COCH_000001 - - - - Germline yes - - - - DNA SEQ-NG-I Blood - DFNA1 - - DFNA9 M - Korea, South (Republic) Asian - - 48 - 1 Han Sang Kim
+/+ 8 c.485G>A r.(?) p.(Cys162Tyr) Parent #1 - pathogenic g.31349796G>A g.30880590G>A - - COCH_000039 - MORL Deafness Variation Database, PubMed: Gao 2013 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Gao 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.519C>T r.(?) p.(Ser173=) Unknown - likely benign g.31349830C>T - COCH(NM_001347720.1):c.714C>T (p.S238=) - COCH_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.535C>T r.(?) p.(Arg179Cys) Unknown - likely pathogenic (dominant) g.31349846C>T g.30880640C>T NM_001347720:c.730C>T - COCH_000064 - PubMed: Boucher 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - HL B00APG2 PubMed: Boucher 2020 - - - France - - - - - 1 Johan den Dunnen
-?/. - c.539G>A r.(?) p.(Arg180Gln) Unknown - likely benign g.31349850G>A - - - COCH_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.555G>A r.(?) p.(Lys185=) Unknown - likely benign g.31349866G>A - - - COCH_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.615C>T r.(?) p.(Gly205=) Unknown - likely benign g.31349926C>T g.30880720C>T COCH(NM_001347720.1):c.810C>T (p.G270=) - COCH_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.629+5C>T r.spl? p.? Unknown - likely benign g.31349945C>T g.30880739C>T COCH(NM_001135058.1):c.629+5C>T - COCH_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.665_666del r.(?) p.(Phe222TyrfsTer19) Unknown - likely benign g.31353794_31353795del g.30884588_30884589del - - COCH_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.734-17T>C r.(=) p.(=) Unknown - likely benign g.31354583T>C g.30885377T>C - - COCH_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.740C>G r.(?) p.(Ala247Gly) Unknown - VUS g.31354606C>G - - - COCH_000056 - - - rs749516210 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.909G>A r.(?) p.(Lys303=) Unknown - likely benign g.31354775G>A g.30885569G>A COCH(NM_001347720.1):c.1104G>A (p.K368=) - COCH_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.971G>A r.(?) p.(Arg324Gln) Unknown - VUS g.31355012G>A - COCH(NM_001347720.1):c.1166G>A (p.R389Q) - COCH_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.984_985dup r.984_985dup p.Phe329Serfs*16 Both (homozygous) - pathogenic (recessive) g.31355025_31355026dup g.30885819_30885820dup - - COCH_000061 - PubMed: Danial-Farran 2021 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES HL family PubMed: Danial-Farran 2021 3-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Israel Arab;Christian - - - - 3 Johan den Dunnen
?/. - c.1016C>T r.(?) p.(Thr339Ile) Unknown - VUS g.31355057C>T g.30885851C>T COCH(NM_001135058.1):c.1016C>T (p.T339I) - COCH_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1047G>A r.(?) p.(Lys349=) Unknown - likely benign g.31355088G>A - COCH(NM_001347720.1):c.1242G>A (p.K414=) - COCH_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1055C>G r.(?) p.(Thr352Ser) Unknown - benign g.31355096C>G g.30885890C>G COCH(NM_001135058.1):c.1055C>G (p.T352S), COCH(NM_001135058.2):c.1055C>G (p.T352S), LOC100506071(NR_038356.1):n.975G>C - COCH_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1055C>G r.(?) p.(Thr352Ser) Unknown - benign g.31355096C>G g.30885890C>G COCH(NM_001135058.1):c.1055C>G (p.T352S), COCH(NM_001135058.2):c.1055C>G (p.T352S), LOC100506071(NR_038356.1):n.975G>C - COCH_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1055C>G r.(?) p.(Thr352Ser) Unknown - benign g.31355096C>G g.30885890C>G COCH(NM_001135058.1):c.1055C>G (p.T352S), COCH(NM_001135058.2):c.1055C>G (p.T352S), LOC100506071(NR_038356.1):n.975G>C - COCH_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1115T>C r.(?) p.(Ile372Thr) Unknown - likely pathogenic g.31355156T>C g.30885950T>C - - COCH_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 11 c.1115T>C r.(?) p.(Ile372Thr) Parent #1 - pathogenic g.31355156T>C g.30885950T>C - - COCH_000019 - MORL Deafness Variation Database, PubMed: Tsukada 2015 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Tsukada 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1150C>T r.(?) p.(Arg384Cys) Unknown - VUS g.31355191C>T - - - COCH_000063 - - - rs756541797 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1159C>T r.(?) p.(Leu387Phe) Paternal (confirmed) - pathogenic g.31355200C>T g.30885994C>T - - COCH_000002 0/360 controls - - - Germline yes 1/202 patients - - - DNA SEQ-NG-I blood - DFNA9 - Karen Avraham laboratory, Tel Aviv university, Israel, unpublished - - no Israel Jewish-Ashkenazi - - - - 3 Zippi Brownstein
+/+ 11 c.1196_1213del r.(?) p.(Ile399_Ala404del) Parent #1 - pathogenic g.31355237_31355254del g.30886031_30886048del - - COCH_000040 - MORL Deafness Variation Database, PubMed: Gallant 2013 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Gallant 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1229A>G r.(?) p.(Gln410Arg) Unknown - VUS g.31355270A>G - - - COCH_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1270T>G r.(?) p.(Tyr424Asp) Unknown - VUS g.31355311T>G g.30886105T>G COCH(NM_001135058.1):c.1270T>G (p.Y424D) - COCH_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 11 c.1303A>G r.(?) p.(Arg435Gly) Parent #1 - likely pathogenic g.31355344A>G g.30886138A>G - - COCH_000041 - MORL Deafness Variation Database, PubMed: Ji 2014 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Ji 2014 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. 11 c.1312C>T r.(?) p.(Arg438Cys) Unknown - VUS g.31355353C>T g.30886147C>T - - COCH_000003 - - - - Germline yes - - - - DNA SEQ - - DFNA9 - - - - - Netherlands - - - - - 1 Margit Schraders
?/. - c.1324G>C r.(?) p.(Gly442Arg) Unknown - VUS g.31355365G>C - - - COCH_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1348A>G r.(?) p.(Ile450Val) Unknown - likely benign g.31355389A>G g.30886183A>G COCH(NM_001135058.1):c.1348A>G (p.I450V) - COCH_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1348A>G r.(?) p.(Ile450Val) Unknown - likely benign g.31355389A>G g.30886183A>G COCH(NM_001135058.1):c.1348A>G (p.I450V) - COCH_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1436A>G r.(?) p.(Tyr479Cys) Unknown - VUS g.31355477A>G - - - COCH_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 11 c.1459G>C r.(?) p.(Ala487Pro) Parent #1 - pathogenic g.31355500G>C g.30886294G>C - - COCH_000042 - MORL Deafness Variation Database - - SUMMARY record - - - - - DNA ? - - deafness - - - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.1477+9C>A r.(=) p.(=) Unknown - benign g.31355527C>A g.30886321C>A COCH(NM_001135058.1):c.1477+9C>A - COCH_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1477+9C>A r.(=) p.(=) Unknown - benign g.31355527C>A g.30886321C>A COCH(NM_001135058.1):c.1477+9C>A - COCH_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1478-15A>G r.(=) p.(=) Unknown - VUS g.31358807A>G g.30889601A>G - - AP4S1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1487T>A r.(?) p.(Ile496Asn) Unknown - VUS g.31358831T>A - - - COCH_000050 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 12 c.1529A>G r.(?) p.(Lys510Arg) Parent #1 - likely pathogenic g.31358873A>G g.30889667A>G - - COCH_000043 - MORL Deafness Variation Database, PubMed: Ji 2014 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Ji 2014 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 12 c.1535T>C r.(?) p.(Met512Thr) Parent #1 - pathogenic g.31358879T>C g.30889673T>C - - COCH_000044 - MORL Deafness Variation Database, PubMed: Shearer 1993, PubMed: Yuan 2008 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Shearer 1993, PubMed: Yuan 2008 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 12 c.1580T>G r.(?) p.(Phe527Cys) Parent #1 - pathogenic g.31358924T>G g.30889718T>G - - COCH_000045 - MORL Deafness Variation Database, PubMed: Cho 2012 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Cho 2012 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1591G>C r.(?) p.(Glu531Gln) Unknown - VUS g.31358935G>C g.30889729G>C COCH(NM_001135058.1):c.1591G>C (p.E531Q) - COCH_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1591G>C r.(?) p.(Glu531Gln) Unknown - likely benign g.31358935G>C g.30889729G>C COCH(NM_001135058.1):c.1591G>C (p.E531Q) - COCH_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 12 c.1624T>C r.(?) p.(Cys542Arg) Parent #1 - pathogenic g.31358968T>C g.30889762T>C - - COCH_000046 - MORL Deafness Variation Database, PubMed: Tsukada 2015 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Tsukada 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 12 c.1625G>A r.(?) p.(Cys542Tyr) Parent #1 - pathogenic g.31358969G>A g.30889763G>A - - COCH_000048 - MORL Deafness Variation Database, PubMed: Shearer 1993, PubMed: Yuan 2008 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Shearer 1993, PubMed: Yuan 2008 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 12 c.1625G>T r.(?) p.(Cys542Phe) Parent #1 - pathogenic g.31358969G>T g.30889763G>T - - COCH_000047 - MORL Deafness Variation Database, PubMed: Street 2005, PubMed: Shearer 1993 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Street 2005, PubMed: Shearer 1993 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.*27A>T r.(=) p.(=) Unknown - benign g.31359024A>T g.30889818A>T COCH(NM_001135058.1):c.*27A>T - COCH_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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