Full data view for gene HTT

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

98 entries on 1 page. Showing entries 1 - 98.
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Effect     

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AscendingDNA change (cDNA)     

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RNA change     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

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Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

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Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

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-/- 1 c.123_143GCC[7] P11 r.(?) p.(Pro39[11]) Unknown - benign g.3076675_3076695GCC[7] - PCR CCG[7] - HTT_000006 - PubMed: Squitier 1994 - - Germline - 115/191 chromosomes - - - DNA SEQ - - Healthy/Control - PubMed: Squitier 1994 controls F;M - - - - - - - 1 Johan den Dunnen
-/- 1 c.123_143GCC[7] Q[37]P[11], r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 specific PCR CAG (Gln) and CCn (Pro) repeat PubMed: de Rooij 1993 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control - PubMed: de Rooij 1993 - ? no Netherlands - - - - - 1 Johan den Dunnen
-/- 1 c.123_143GCC[7] Q[39]P[11], r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 specific PCR CAG (Gln) and CCn (Pro) repeat PubMed: de Rooij 1993 - - Germline - - - - - DNA PCR, SEQ - - HD - PubMed: de Rooij 1993 - ? no Netherlands - - - - - 1 Johan den Dunnen
-/- 1 c.123_143GCC[7] Q[37]P[11], r.(?) p.(Pro39[11]) Paternal (confirmed) - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - PubMed: de Rooij 1993 - - Germline - - - - - DNA PCR, SEQ - - HD - PubMed: de Rooij 1993 - ? no Netherlands - - - - - 1 Johan den Dunnen
-/- 1 c.123_143GCC[7] Q[39]P[11], r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 specific PCR CAG (Gln) and CCn (Pro) repeat PubMed: de Rooij 1993 - - Germline - - - - - DNA PCR, SEQ - - HD - PubMed: de Rooij 1993 - M no Netherlands - - - - - 1 Johan den Dunnen
-/- 1 c.123_143GCC[7] Q[37]P[11], r.(?) p.(Pro39[11]) Paternal (confirmed) - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - PubMed: de Rooij 1993 - - Germline - - - - - DNA PCR, SEQ - - ? - PubMed: de Rooij 1993 - ? no Netherlands - - - - - 1 Johan den Dunnen
-/- 1 c.123_143GCC[7] Q[21]P[11], r.= p.(Pro39[11]) Unknown - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 reference allele reference - - Germline - - - - - DNA PCR, SEQ - - HD - PubMed: de Rooij 1993 - M no Netherlands - - - - - 1 Johan den Dunnen
-/- 1 c.123_143GCC[7] - r.(?) p.(Pro39[11]) Parent #2 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 specific PCR CAG (Gln) and CCn (Pro) repeat PubMed: de Rooij 1993 - - Germline - - - - - DNA PCR, SEQ - - ? - PubMed: de Rooij 1993 - ? no Netherlands - - - - - 1 Johan den Dunnen
-/- 1 c.123_143GCC[7] Q[49]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[45]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[45]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[48]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[70]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[45]P[11], A2a r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[48]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[51]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[50]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[52]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[49]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[43]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[45]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[47]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[52]P[11], A2a r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[47]P[11], A1_ EUR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[50]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[46]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[47]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[50]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[44]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[65]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[45]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[46]P[11], A1axA5a AMR-X r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[43]P[11], A2a r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[48]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[66]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[47]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[45]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[51]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[52]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[44]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[52]P[11], A1_ EUR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[48]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[63]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[45]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[44]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[50]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[54]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[48]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[49]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[45]P[11], A2a r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[45]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[46]P[11], A1ax AMR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[46]P[11], A2a r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[47]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[48]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[48]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[48]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[43]P[11], A2bx r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[51]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[43]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #1 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[20]P[11], B2a r.(?) p.(Pro39[11]) Parent #2 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[37]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #2 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[17]P[11], A5b r.(?) p.(Pro39[11]) Parent #2 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[28]P[11], A1b EUR r.(?) p.(Pro39[11]) Parent #2 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[20]P[11], B1a r.(?) p.(Pro39[11]) Parent #2 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[19]P[11], A5a r.(?) p.(Pro39[11]) Parent #2 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[18]P[11], A5a r.(?) p.(Pro39[11]) Parent #2 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[22]P[11], A2bxC1X r.(?) p.(Pro39[11]) Parent #2 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[25]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #2 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[21]P[11], A2b r.(?) p.(Pro39[11]) Parent #2 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[19]P[11], A5a r.(?) p.(Pro39[11]) Parent #2 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[17]P[11], A5b r.(?) p.(Pro39[11]) Parent #2 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[17]P[11], A5b r.(?) p.(Pro39[11]) Parent #2 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[19]P[11], A5a r.(?) p.(Pro39[11]) Parent #2 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[25]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #2 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[39]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #2 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[21]P[11], B1a r.(?) p.(Pro39[11]) Parent #2 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[20]P[11], B1a r.(?) p.(Pro39[11]) Parent #2 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[17]P[11], A5b r.(?) p.(Pro39[11]) Parent #2 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[25]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #2 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[22]P[11], A6x r.(?) p.(Pro39[11]) Parent #2 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[22]P[11], A3<xC r.(?) p.(Pro39[11]) Parent #2 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[17]P[11], A5b r.(?) p.(Pro39[11]) Parent #2 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[19]P[11], A5a r.(?) p.(Pro39[11]) Parent #2 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[23]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #2 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[24]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #2 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[23]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #2 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[26]P[11], A1a AMR r.(?) p.(Pro39[11]) Parent #2 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[17]P[11], A5b r.(?) p.(Pro39[11]) Parent #2 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[23]P[11], A1axC1 AMR r.(?) p.(Pro39[11]) Parent #2 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[19]P[11], A5a r.(?) p.(Pro39[11]) Parent #2 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[19]P[11], A5a r.(?) p.(Pro39[11]) Parent #2 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[19]P[11], A5a r.(?) p.(Pro39[11]) Parent #2 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[20]P[11], B1a r.(?) p.(Pro39[11]) Parent #2 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[19]P[11], A5a r.(?) p.(Pro39[11]) Parent #2 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[28]P[11], B2b r.(?) p.(Pro39[11]) Parent #2 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[17]P[11], A5b r.(?) p.(Pro39[11]) Parent #2 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[7] Q[24]P[11], A1axC1 AMR-X r.(?) p.(Pro39[11]) Parent #2 - benign g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
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