Screening #0000081477

Individual ID 00081364
Template DNA
Technique SEQ;arraySNP;PCR
Tissue -
Remarks -
Variants found? 140
Owner name Chris Kay


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
HTT huntingtin 4 p16.3 1 6512 208 2019-07-05 HD



Variants found

140 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

Chr     

Allele     

Effect     

AscendingDNA 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     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
1 Unknown ?/. g.11850927C>T g.11790870C>T - - MTHFR_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma MTHFR - - - - - - NM_005957.4:c.1781G>A - - r.(?) p.(Arg594Gln) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.2481490G= - - - chr4_000417 - Kay, submitted EJHG - rs11248108 Germline - - - 0 - Chris Kay - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.2481490G>A g.2479763G>A - - RNF4_000001 - Kay, submitted EJHG - rs11248108 Germline - - - 0 - Chris Kay RNF4 - - - - - 1i NM_002938.4:c.-158+10505G>A - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3028113A= - - - chr4_000418 - Kay, submitted EJHG - rs2857845 Germline - - - 0 - Chris Kay - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3028113A= - - - chr4_000418 - Kay, submitted EJHG - rs2857845 Germline - - - 0 - Chris Kay - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3044435G= - - - chr4_000420 - Kay, submitted EJHG - rs2471347 Germline - - - 0 - Chris Kay - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3044435G>A - - - chr4_000421 - Kay, submitted EJHG - rs2471347 Germline - - - 0 - Chris Kay - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3061282C= - - - chr4_000424 - Kay, submitted EJHG - rs13141939 Germline - - - 0 - Chris Kay - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3061282C= - - - chr4_000424 - Kay, submitted EJHG - rs13141939 Germline - - - 0 - Chris Kay - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3062165A= - - - chr4_000426 - Kay, submitted EJHG - rs2798296 Germline - - - 0 - Chris Kay - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3062165A>G - - - chr4_000427 - Kay, submitted EJHG - rs2798296 Germline - - - 0 - Chris Kay - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3062310T= - - - chr4_000429 - Kay, submitted EJHG - rs2857936 Germline - - - 0 - Chris Kay - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3062310T>C - - - chr4_000428 - Kay, submitted EJHG - rs2857936 Germline - - - 0 - Chris Kay - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3063817C= - - - chr4_000430 - Kay, submitted EJHG - rs7694687 Germline - - - 0 - Chris Kay - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3063817C= - - - chr4_000430 - Kay, submitted EJHG - rs7694687 Germline - - - 0 - Chris Kay - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3074795A= - - - HTT_000082 - Kay, submitted EJHG - rs762855 Germline - - - 0 - Chris Kay HTT - - - - - _1 NM_002111.6:c.-1758A= A1b EUR - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3074795A>G g.3073068A>G - - HTT_000129 - Kay, submitted EJHG - rs762855 Germline - - - 0 - Chris Kay HTT - - - - - _1 NM_002111.6:c.-1758A>G C1 - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3076606_3076662GCA[26] - PCR CAG26 - HTT_000032 - Kay, submitted EJHG - - Germline - - - 0 - Chris Kay HTT - - - - - 1 NM_002111.6:c.54_110GCA[26] A1b EUR - r.(?) p.(Gln18[28]) - - Q[28]P[11] - - - - - - - - - - - - - - - -
4 Parent #1 +/+ g.3076606_3076662GCA[55] - PCR CAG55 - HTT_000016 - Kay, submitted EJHG - - Germline - - - 0 - Chris Kay HTT - - - - - 1 NM_002111.6:c.54_110GCA[55] C1 - r.(?) p.(Gln18[57]) - - Q[57]P[14] - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3076675_3076695GCC[10] - PCR CCG10 - HTT_000008 - Kay, submitted EJHG - - Germline - - - 0 - Chris Kay HTT - - - - - 1 NM_002111.6:c.123_143GCC[10] C1 - r.(?) p.(Pro39[14]) - - Q[57]P[14] - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3076675_3076695GCC[7] - PCR CCG7 - HTT_000006 - Kay, submitted EJHG - - Germline - - - 0 - Chris Kay HTT - - - - - 1 NM_002111.6:c.123_143GCC[7] A1b EUR - r.(?) p.(Pro39[11]) - - Q[28]P[11] - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3080238T= - - - HTT_000135 - Kay, submitted EJHG - rs12508079 Germline - - - 0 - Chris Kay HTT - - - - - 1i NM_002111.6:c.263+3423T= C1 - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3080238T= - - - HTT_000135 - Kay, submitted EJHG - rs12508079 Germline - - - 0 - Chris Kay HTT - - - - - 1i NM_002111.6:c.263+3423T= A1b EUR - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3089259A= - - - HTT_000102 - Kay, submitted EJHG - rs2285086 Germline - - - 0 - Chris Kay HTT - - - - - 2i NM_002111.6:c.347+510A= A1b EUR - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3089259A>G g.3087532A>G - - HTT_000138 - Kay, submitted EJHG - rs2285086 Germline - - - 0 - Chris Kay HTT - - - - - 2i NM_002111.6:c.347+510A>G C1 - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3104390C= - - - HTT_000103 - Kay, submitted EJHG - rs16843804 Germline - - - 0 - Chris Kay HTT - - - - - 3i NM_002111.6:c.469-1161= A1b EUR - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3104390C>T g.3102663C>T - - HTT_000137 - Kay, submitted EJHG - rs16843804 Germline - - - 0 - Chris Kay HTT - - - - - 3i NM_002111.6:c.469-1161C>T C1 - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3104568A= - - - HTT_000108 - Kay, submitted EJHG - rs2024115 Germline - - - 0 - Chris Kay HTT - - - - - 3i NM_002111.6:c.469-983A= A1b EUR - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3104568A>G g.3102841A>G - - HTT_000144 - Kay, submitted EJHG - rs2024115 Germline - - - 0 - Chris Kay HTT - - - - - 3i NM_002111.6:c.469-983A>G C1 - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3107334C= - - - HTT_000064 - Kay, submitted EJHG - rs3733217 Germline - - - 0 - Chris Kay HTT - - - - - 5i NM_002111.6:c.608+171C= A1b EUR - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3107334C= - - - HTT_000064 - Kay, submitted EJHG - rs3733217 Germline - - - 0 - Chris Kay HTT - - - - - 5i NM_002111.6:c.608+171C= C1 - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3111410G= - - - HTT_000076 - Kay, submitted EJHG - rs7691627 Germline - - - 0 - Chris Kay HTT - - - - - 6i NM_002111.6:c.747+2260G= A1b EUR - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3111410G>A g.3109683G>A - - HTT_000063 - Kay, submitted EJHG - rs7691627 Germline - - - 0 - Chris Kay HTT - - - - - 6i NM_002111.6:c.747+2260G>A C1 - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3114832G= - - - HTT_000059 - Kay, submitted EJHG - rs2798235 Germline - - - 0 - Chris Kay HTT - - - - - 6i NM_002111.6:c.748-2199G= C1 - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3114832G= - - - HTT_000059 - Kay, submitted EJHG - rs2798235 Germline - - - 0 - Chris Kay HTT - - - - - 6i NM_002111.6:c.748-2199G= A1b EUR - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3117168C= - - - HTT_000046 - Kay, submitted EJHG - rs1936032 Germline - - - 0 - Chris Kay HTT - - - - - 7 NM_002111.6:c.885C= C1 - r.(?) p.(Leu295=) - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3117168C= - - - HTT_000046 - Kay, submitted EJHG - rs1936032 Germline - - - 0 - Chris Kay HTT - - - - - 7 NM_002111.6:c.885C= A1b EUR - r.(?) p.(Leu295=) - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3122507T= - - - HTT_000106 - Kay, submitted EJHG - rs4690072 Germline - - - 0 - Chris Kay HTT - - - - - 8i NM_002111.6:c.1069-448T= A1b EUR - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3122507T>G g.3120780T>G - - HTT_000085 - Kay, submitted EJHG - rs4690072 Germline - - - 0 - Chris Kay HTT - - - - - 8i NM_002111.6:c.1069-448T>G C1 - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3126813T= - - - HTT_000079 - Kay, submitted EJHG - rs6446723 Germline - - - 0 - Chris Kay HTT - - - - - 10i NM_002111.6:c.1322-463T= A1b EUR - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3126813T>C g.3125086T>C - - HTT_000077 - Kay, submitted EJHG - rs6446723 Germline - - - 0 - Chris Kay HTT - - - - - 10i NM_002111.6:c.1322-463T>C C1 - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3133911C= - - - HTT_000042 - Kay, submitted EJHG - rs363080 Germline - - - 0 - Chris Kay HTT - - - - - 16i NM_002111.6:c.2237-378C= C1 - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3133911C= - - - HTT_000042 - Kay, submitted EJHG - rs363080 Germline - - - 0 - Chris Kay HTT - - - - - 16i NM_002111.6:c.2237-378C= A1b EUR - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3137674G= - - - HTT_000071 - Kay, submitted EJHG - rs363075 Germline - - - 0 - Chris Kay HTT - - - - - 20 NM_002111.6:c.2677G= C1 - r.(?) p.(Gly893=) - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3137674G= - - - HTT_000071 - Kay, submitted EJHG - rs363075 Germline - - - 0 - Chris Kay HTT - - - - - 20 NM_002111.6:c.2677G= A1b EUR - r.(?) p.(Gly893=) - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3141410C= - - - HTT_000113 - Kay, submitted EJHG - rs363064 Germline - - - 0 - Chris Kay HTT - - - - - 21i NM_002111.6:c.2799-827C= A1b EUR - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3141410C>T g.3139683C>T - - HTT_000142 - Kay, submitted EJHG - rs363064 Germline - - - 0 - Chris Kay HTT - - - - - 21i NM_002111.6:c.2799-827C>T C1 - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3142528A= - - - HTT_000040 - Kay, submitted EJHG - rs363072 Germline - - - 0 - Chris Kay HTT - - - - - 22i NM_002111.6:c.2945+145A= A1b EUR - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3142528A= - - - HTT_000040 - Kay, submitted EJHG - rs363072 Germline - - - 0 - Chris Kay HTT - - - - - 22i NM_002111.6:c.2945+145A= C1 - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3142663= - - - HTT_000115 - Kay, submitted EJHG - rs72239206 Germline - - - 0 - Chris Kay HTT - - - - - 22i NM_002111.6:c.2946+280= C1 - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3142663_3142666del - delACTT - HTT_000116 - Kay, submitted EJHG - rs72239206 Germline - - - 0 - Chris Kay HTT - - - - - 22i NM_002111.6:c.2946+280_2946+283del A1b EUR - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3144441A= - - - HTT_000073 - Kay, submitted EJHG - rs363107 Germline - - - 0 - Chris Kay HTT - - - - - 22i NM_002111.6:c.2946-52A= A1b EUR - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3144441A= - - - HTT_000073 - Kay, submitted EJHG - rs363107 Germline - - - 0 - Chris Kay HTT - - - - - 22i NM_002111.6:c.2946-52A= C1 - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3147268C= - - - HTT_000084 - Kay, submitted EJHG - rs12502045 Germline - - - 0 - Chris Kay HTT - - - - - 24i NM_002111.6:c.3143+313C= A1b EUR - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3147268C= - - - HTT_000084 - Kay, submitted EJHG - rs12502045 Germline - - - 0 - Chris Kay HTT - - - - - 24i NM_002111.6:c.3143+313C= C1 - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3148570G= - - - HTT_000081 - Kay, submitted EJHG - rs35892913 Germline - - - 0 - Chris Kay HTT - - - - - 25 NM_002111.6:c.3190G= A1b EUR - r.(?) p.(Val1064=) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3148570G= - - - HTT_000081 - Kay, submitted EJHG - rs35892913 Germline - - - 0 - Chris Kay HTT - - - - - 25 NM_002111.6:c.3190G= C1 - r.(?) p.(Val1064=) - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3149016A= - - - HTT_000078 - Kay, submitted EJHG - rs363102 Germline - - - 0 - Chris Kay HTT - - - - - 25i NM_002111.6:c.3295+341A= A1b EUR - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3149016A= - - - HTT_000078 - Kay, submitted EJHG - rs363102 Germline - - - 0 - Chris Kay HTT - - - - - 25i NM_002111.6:c.3295+341A= C1 - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - Chris Kay HTT - - - - - 26i NM_002111.6:c.3498+1879C= C1 - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3151813C>T g.3150086C>T - - HTT_000127 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - Chris Kay HTT - - - - - 26i NM_002111.6:c.3498+1879C>T A1b EUR - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3160150G= - - - HTT_000114 - Kay, submitted EJHG - rs4690073 Germline - - - 0 - Chris Kay HTT - - - - - 28i NM_002111.6:c.3753+1224G= A1b EUR - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3160150G>A g.3158423G>A - - HTT_000072 - Kay, submitted EJHG - rs4690073 Germline - - - 0 - Chris Kay HTT - - - - - 28i NM_002111.6:c.3753+1224G>A C1 - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3161446C= - - - HTT_000053 - Kay, submitted EJHG - rs3025838 Germline - - - 0 - Chris Kay HTT - - - - - 28i NM_002111.6:c.3754-563C= C1 - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3161446C= - - - HTT_000053 - Kay, submitted EJHG - rs3025838 Germline - - - 0 - Chris Kay HTT - - - - - 28i NM_002111.6:c.3754-563C= A1b EUR - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3162056C= - - - HTT_000097 - Kay, submitted EJHG - rs363099 Germline - - - 0 - Chris Kay HTT - - - - - 29 NM_002111.6:c.3801C= A1b EUR - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3162056C>T g.3160329C>T - - HTT_000096 - Kay, submitted EJHG - rs363099 Germline - - - 0 - Chris Kay HTT - - - - - 29 NM_002111.6:c.3801C>T C1 - r.(?) p.(Leu1267=) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3174845A= - - - HTT_000109 - Kay, submitted EJHG - rs3025837 Germline - - - 0 - Chris Kay HTT - - - - - 31 NM_002111.6:c.4153A= C1 - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3174845A= - - - HTT_000109 - Kay, submitted EJHG - rs3025837 Germline - - - 0 - Chris Kay HTT - - - - - 31 NM_002111.6:c.4153A= A1b EUR - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3180021= - - - HTT_000154 - Kay, submitted EJHG - rs363096 Germline - - - 0 - Chris Kay HTT - - - - - 34i NM_002111.6:c.4464-4T= A1b EUR - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3180021T>C g.3178294T>C - - HTT_000133 - Kay, submitted EJHG - rs363096 Germline - - - 0 - Chris Kay HTT - - - - - 34i NM_002111.6:c.4464-4T>C C1 - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3185747T= - - - HTT_000117 - Kay, submitted EJHG - rs2298967 Germline - - - 0 - Chris Kay HTT - - - - - 37i NM_002111.6:c.4866+1550T= A1b EUR - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3185747T>C g.3184020T>C - - HTT_000107 - Kay, submitted EJHG - rs2298967 Germline - - - 0 - Chris Kay HTT - - - - - 37i NM_002111.6:c.4866+1550T>C C1 - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3186993G= - - - HTT_000065 - Kay, submitted EJHG - rs10488840 Germline - - - 0 - Chris Kay HTT - - - - - 37i NM_002111.6:c.4867-1331G= C1 - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3186993G= - - - HTT_000065 - Kay, submitted EJHG - rs10488840 Germline - - - 0 - Chris Kay HTT - - - - - 37i NM_002111.6:c.4867-1331G= A1b EUR - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3188616C= - - - HTT_000083 - Kay, submitted EJHG - rs188072823 Germline - - - 0 - Chris Kay HTT - - - - - 38i NM_002111.6:c.4989+170C= C1 - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3188616C= - - - HTT_000083 - Kay, submitted EJHG - rs188072823 Germline - - - 0 - Chris Kay HTT - - - - - 38i NM_002111.6:c.4989+170C= A1b EUR - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3190486T= - - - HTT_000110 - Kay, submitted EJHG - rs6844859 Germline - - - 0 - Chris Kay HTT - - - - - 39i NM_002111.6:c.5226-192T= A1a AMR - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3190486T>C g.3188759T>C - - HTT_000052 - Kay, submitted EJHG - rs6844859 Germline - - - 0 - Chris Kay HTT - - - - - 39i NM_002111.6:c.5226-192T>C C1 - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3196029A= - - - HTT_000069 - Kay, submitted EJHG - rs363092 Germline - - - 0 - Chris Kay HTT - - - - - 40i NM_002111.6:c.5368+5209A= C1 - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3196029A>C g.3194302A>C - - HTT_000075 - Kay, submitted EJHG - rs363092 Germline - - - 0 - Chris Kay HTT - - - - - 40i NM_002111.6:c.5368+5209A>C A1a AMR - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3207142A= - - - HTT_000068 - Kay, submitted EJHG - rs7685686 Germline - - - 0 - Chris Kay HTT - - - - - 42i NM_002111.6:c.5719-1081A= A1a AMR - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3207142A>G g.3205415A>G - - HTT_000051 - Kay, submitted EJHG - rs7685686 Germline - - - 0 - Chris Kay HTT - - - - - 42i NM_002111.6:c.5719-1081A>G C1 - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3210330A= - - - HTT_000120 - Kay, submitted EJHG - rs363088 Germline - - - 0 - Chris Kay HTT - - - - - 45i NM_002111.6:c.6153-170A= A1a AMR - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3210330A>T g.3208603A>T - - HTT_000119 - Kay, submitted EJHG - rs363088 Germline - - - 0 - Chris Kay HTT - - - - - 45i NM_002111.6:c.6153-170A>T C1 - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3215835T= - - - HTT_000062 - Kay, submitted EJHG - rs362331 Germline - - - 0 - Chris Kay HTT - - - - - 50 NM_002111.6:c.6925T= A1a AMR - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3215835T>C g.3214108T>C - - HTT_000061 - Kay, submitted EJHG - rs362331 Germline - - - 0 - Chris Kay HTT - - - - - 50 NM_002111.6:c.6925T>C C1 - r.(?) p.(Tyr2309His) - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3216815C= - - - HTT_000048 - Kay, submitted EJHG - rs916171 Germline - - - 0 - Chris Kay HTT - - - - - 50i NM_002111.6:c.6953-22C= A1b EUR - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3216815C>G g.3215088C>G - - HTT_000047 - Kay, submitted EJHG - rs916171 Germline - - - 0 - Chris Kay HTT - - - - - 50i NM_002111.6:c.6953-22C>G C1 - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3221365A= - - - HTT_000095 - Kay, submitted EJHG - rs362322 Germline - - - 0 - Chris Kay HTT - - - - - 52i NM_002111.6:c.7243-544A= C1 - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3221365A= - - - HTT_000095 - Kay, submitted EJHG - rs362322 Germline - - - 0 - Chris Kay HTT - - - - - 52i NM_002111.6:c.7243-544A= A1b EUR - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3224602C= - - - HTT_000045 - Kay, submitted EJHG - rs362275 Germline - - - 0 - Chris Kay HTT - - - - - 54i NM_002111.6:c.7470+388C= A1b EUR - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3224602C>T g.3222875C>T - - HTT_000044 - Kay, submitted EJHG - rs362275 Germline - - - 0 - Chris Kay HTT - - - - - 54i NM_002111.6:c.7470+388C>T C1 - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3225389A= - - - HTT_000041 - Kay, submitted EJHG - rs82333 Germline - - - 0 - Chris Kay HTT - - - - - 55i NM_002111.6:c.7625+102A= A1b EUR - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3225389A>G g.3223662A>G - - HTT_000139 - Kay, submitted EJHG - rs82333 Germline - - - 0 - Chris Kay HTT - - - - - 55i NM_002111.6:c.7625+102A>G C1 - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3225478T= - - - HTT_000124 - Kay, submitted EJHG - rs110501 Germline - - - 0 - Chris Kay HTT - - - - - 55i NM_002111.6:c.7625+191T= A1b EUR - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3225478T>C g.3223751T>C - - HTT_000140 - Kay, submitted EJHG - rs110501 Germline - - - 0 - Chris Kay HTT - - - - - 55i NM_002111.6:c.7625+191T>C C1 - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3230421_3230423= - - - HTT_000094 - Kay, submitted EJHG - rs149109767 Germline - - - 0 - Chris Kay HTT - - - - - 58 NM_002111.6:c.7928_7930= C1 - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #2 -/- g.3230421_3230423del g.3228694_3228696del delGAG - HTT_000093 - Kay, submitted EJHG - rs149109767 Germline - - - 0 - Chris Kay HTT - - - - - 58 NM_002111.6:c.7928_7930del A1b EUR - r.(?) p.(Glu7923del) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/- g.3231661G= - - - HTT_000050 - Kay, submitted EJHG - rs2276881 Germline - - - 0 - Chris Kay HTT - - - - - 60 NM_002111.6:c.8157G= C1 - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
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