Full data view for gene HTT

Information The variants shown are described using the NM_002111.6 transcript reference sequence.

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

Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

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     
-/- 7 c.885C= B2a r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1a AMR r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= C1d r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1a AMR r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= C1 r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= C1 r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= C1 r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1a AMR r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= C7b r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1a AMR r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1a AMR r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A5b r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= C1 r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1b EUR r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1a AMR r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= B1a r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A2a r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= C1 r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= C1 r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1a AMR r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1a AMR r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A5a r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1a AMR r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A5a r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A2bxC1X r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1a AMR r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1a AMR r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1a AMR r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A2b r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= C1 r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= C1 r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= C1 r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1a AMR r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A5a r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A2a r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= C1 r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= C1 r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A5b r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1a AMR r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A5b r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1a AMR r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A5a r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A2a r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= C1 r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1a AMR r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1_ EUR r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= C1 r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1a AMR r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1a AMR r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1a AMR r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= B1a r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1a AMR r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= B1a r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1a AMR r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1a AMR r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A5b r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= C5a r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1a AMR r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1a AMR r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1a AMR r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A6x r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1axA5a AMR-X r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A2a r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A3<xC r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1a AMR r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A5b r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= C1 r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1a AMR r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= C1 r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= C1g r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= C1 r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1a AMR r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= C1 r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1a AMR r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1a AMR r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A5a r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1a AMR r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1a AMR r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1a AMR r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1a AMR r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= C1 r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1_ EUR r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= C7a r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1a AMR r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1a AMR r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1a AMR r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= C1 r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1a AMR r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1a AMR r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1a AMR r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= C1 r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1a AMR r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= C1 r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1a AMR r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= C1 r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1a AMR r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= C1 r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A1a AMR r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A2a r.(?) p.(Leu295=) Parent #1 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 7 c.885C= A5b r.(?) p.(Leu295=) Parent #2 - benign g.3117168C= - - - HTT_000046 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Kay, submitted EJHG - rs1936032 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
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.