Unique variants in the HTT gene

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

195 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     

DNA/Legacy     

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     

Owner     
./. 1 - c.-3005001_*133851del - r.0? p.0? - - pathogenic g.71552_3375637del - - - IDUA_000000 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
-/- 85 _1 c.-1758A= A1a AMR, A1ax AMR, A1axA5a AMR-X, A1axC1 AMR, A1axC1 AMR-X, A1b EUR, A1_ EUR, A2a, A2b, A2bx, A2bxC1X, 4 more items r.(?) p.(=) - - benign g.3074795= g.3073068= - - HTT_000082 - Kay, submitted EJHG - rs762855 Germline - - - - - Chris Kay
-/- 39 _1 c.-1758A>G B1a, B2a, B2b, C1, C1d, C1g, C5a, C7a, C7b r.(?) p.(=) - - benign g.3074795A>G g.3073068A>G - - HTT_000129 - Kay, submitted EJHG - rs762855 Germline - - - - - Chris Kay
-/- 84 1 c.-148G= A1a AMR, A1axA5a AMR-X, A1_ EUR, A2a, A2b, A2bxC1X, A3<xC, A5a, A5b, A6x, C1, C1d, C1g, C5a r.(?) p.(=) - - benign g.3076405= g.3074678= - - HTT_000057 - Kay, submitted EJHG - rs13102260 Germline - - - - - Chris Kay
-/- 6 1 c.-148G>A B1a, B2a, C7a, C7b r.(?) p.(=) - - benign g.3076405G>A g.3074678G>A - - HTT_000056 - Kay, submitted EJHG - rs13102260 Germline - - - - - Chris Kay
-/. 1 1 c.54_110GCA[13] - r.(?) p.(Gln18[15]) Q15P11 - benign g.3076606_3076662GCA[13] - PCR CAG13 - HTT_000002 specific PCR CAG (Gln) and CCG (Pro) repeat PubMed: de Rooij 1993 - - Germline - - - - - Johan den Dunnen
-/- 9 1 c.54_110GCA[15] A5b, C7a, C7b r.(?) p.(Gln18[17]) Q[17]P[11], Q[17]P[14] - benign g.3076606_3076662GCA[15] - PCR CAG15 - HTT_000031 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
-/- 1 1 c.54_110GCA[16] A5a r.(?) p.(Gln18[18]) Q[18]P[11] - benign g.3076606_3076662GCA[16] - PCR CAG16 - HTT_000033 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
-/- 23 1 c.54_110GCA[17] A5a, C1, C1g, C5a r.(?) p.(Gln18[19]) Q[19]P[11], Q[19]P[14] - benign g.3076606_3076662GCA[17] - PCR CAG17 - HTT_000030 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
-/- 8 1 c.54_110GCA[18] B1a, B2a, C1 r.(?) p.(Gln18[20]) Q[20]P[11], Q[20]P[14] - benign g.3076606_3076662GCA[18] - PCR CAG18 - HTT_000029 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
-/-, -/. 6 1 c.54_110GCA[19] A2b, B1a, C1 r.(?), r.= p.(Gln18[21]) Q21P11, Q[21]P[11], Q[21]P[14] - benign g.3076606_3076662GCA[19] - PCR CAG19 - HTT_000000 reference allele Kay, submitted EJHG - - Germline - - - - - Johan den Dunnen, Chris Kay
-/- 3 1 c.54_110GCA[20] A2bxC1X, A3<xC, A6x r.(?) p.(Gln18[22]) Q[22]P[11] - benign g.3076606_3076662GCA[20] - PCR CAG20 - HTT_000034 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
-/- 3 1 c.54_110GCA[21] A1a AMR, A1axC1 AMR r.(?) p.(Gln18[23]) Q[23]P[11] - benign g.3076606_3076662GCA[21] - PCR CAG21 - HTT_000036 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
-/- 2 1 c.54_110GCA[22] A1a AMR, A1axC1 AMR-X r.(?) p.(Gln18[24]) Q[24]P[11] - benign g.3076606_3076662GCA[22] - PCR CAG22 - HTT_000037 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
-/- 3 1 c.54_110GCA[23] A1a AMR r.(?) p.(Gln18[25]) Q[25]P[11] - benign g.3076606_3076662GCA[23] - PCR CAG23 - HTT_000035 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
-/- 1 1 c.54_110GCA[24] A1a AMR r.(?) p.(Gln18[26]) Q[26]P[11] - benign g.3076606_3076662GCA[24] - PCR CAG24 - HTT_000038 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
-/- 2 1 c.54_110GCA[26] A1b EUR, B2b r.(?) p.(Gln18[28]) Q[28]P[11] - benign g.3076606_3076662GCA[26] - PCR CAG26 - HTT_000032 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
-/. 1 1 c.54_110GCA[32] - r.(?) p.(Gln18[34]) Q34P14 - benign g.3076606_3076662GCA[32] - PCR CAG32 - HTT_000001 specific PCR CAG (Gln) and CCG (Pro) repeat PubMed: de Rooij 1993 - - Germline - - - - - Johan den Dunnen
+?/., +?/?, ?/. 4 1 c.54_110GCA[35] A1a AMR r.(?) p.(Gln18[37]) Q37P11, Q[37]P[11] - likely pathogenic, VUS g.3076606_3076662GCA[35] - PCR CAG35 - HTT_000003 contracted allele -2, specific PCR CAG (Gln) and CCG (Pro) repeat Kay, submitted EJHG, PubMed: de Rooij 1993 - - Germline - - - - - Johan den Dunnen, Chris Kay
+/+ 3 1 c.54_110GCA[37] A1a AMR r.(?) p.(Gln18[39]) Q39P11, Q[39]P[11] - pathogenic g.3076606_3076662GCA[37] - PCR CAG37 - HTT_000005 specific PCR CAG (Gln) and CCG (Pro) repeat Kay, submitted EJHG, PubMed: de Rooij 1993 - - Germline - - - - - Johan den Dunnen, Chris Kay
+/+ 1 1 c.54_110GCA[38] C1d r.(?) p.(Gln18[40]) Q[40]P[14] - pathogenic g.3076606_3076662GCA[38] - PCR CAG38 - HTT_000012 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
+/+ 1 1 c.54_110GCA[40] C1 r.(?) p.(Gln18[42]) Q[42]P[14] - pathogenic g.3076606_3076662GCA[40] - PCR CAG40 - HTT_000028 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
+/+ 5 1 c.54_110GCA[41] A1a AMR, A2a, A2bx, C1 r.(?) p.(Gln18[43]) Q[43]P[11], Q[43]P[14] - pathogenic g.3076606_3076662GCA[41] - PCR CAG41 - HTT_000021 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
+/+ 3 1 c.54_110GCA[42] A1a AMR r.(?) p.(Gln18[44]) Q[44]P[11] - pathogenic g.3076606_3076662GCA[42] - PCR CAG42 - HTT_000023 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
+/+ 10 1 c.54_110GCA[43] A1a AMR, A2a, C1 r.(?) p.(Gln18[45]) Q[45]P[11], Q[45]P[14] - pathogenic g.3076606_3076662GCA[43] - PCR CAG43 - HTT_000014 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
+/+ 5 1 c.54_110GCA[44] A1a AMR, A1ax AMR, A1axA5a AMR-X, A2a, C1 r.(?) p.(Gln18[46]) Q[46]P[11], Q[46]P[14] - pathogenic g.3076606_3076662GCA[44] - PCR CAG44 - HTT_000013 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
+/+ 5 1 c.54_110GCA[45] A1a AMR, A1_ EUR r.(?) p.(Gln18[47]) Q[47]P[11] - pathogenic g.3076606_3076662GCA[45] - PCR CAG45 - HTT_000022 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
+/+ 11 1 c.54_110GCA[46] A1a AMR, A2a, C1 r.(?) p.(Gln18[48]) Q[48]P[11], Q[48]P[14], Q[48]P[8] - pathogenic g.3076606_3076662GCA[46] - PCR CAG46 - HTT_000015 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
+/+ 3 1 c.54_110GCA[47] A1a AMR r.(?) p.(Gln18[49]) Q[49]P[11] - pathogenic g.3076606_3076662GCA[47] - PCR CAG47 - HTT_000011 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
+/+ 4 1 c.54_110GCA[48] A1a AMR r.(?) p.(Gln18[50]) Q[50]P[11] - pathogenic g.3076606_3076662GCA[48] - PCR CAG48 - HTT_000019 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
+/+ 4 1 c.54_110GCA[49] A1a AMR, C1 r.(?) p.(Gln18[51]) Q[51]P[11], Q[51]P[14] - pathogenic g.3076606_3076662GCA[49] - PCR CAG49 - HTT_000018 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
+/+ 4 1 c.54_110GCA[50] A1a AMR, A1_ EUR, A2a r.(?) p.(Gln18[52]) Q[52]P[11] - pathogenic g.3076606_3076662GCA[50] - PCR CAG50 - HTT_000020 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
+/+ 1 1 c.54_110GCA[52] A1a AMR r.(?) p.(Gln18[54]) Q[54]P[11] - pathogenic g.3076606_3076662GCA[52] - PCR CAG52 - HTT_000027 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
+/+ 1 1 c.54_110GCA[55] C1 r.(?) p.(Gln18[57]) Q[57]P[14] - pathogenic g.3076606_3076662GCA[55] - PCR CAG55 - HTT_000016 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
+/+ 1 1 c.54_110GCA[61] A1a AMR r.(?) p.(Gln18[63]) Q[63]P[11] - pathogenic g.3076606_3076662GCA[61] - PCR CAG61 - HTT_000026 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
+/+ 1 1 c.54_110GCA[63] A1a AMR r.(?) p.(Gln18[65]) Q[65]P[11] - pathogenic g.3076606_3076662GCA[63] - PCR CAG63 - HTT_000024 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
+/+ 1 1 c.54_110GCA[64] A1a AMR r.(?) p.(Gln18[66]) Q[66]P[11] - pathogenic g.3076606_3076662GCA[64] - PCR CAG64 - HTT_000025 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
+/+ 1 1 c.54_110GCA[68] A1a AMR r.(?) p.(Gln18[70]) Q[70]P[11] - pathogenic g.3076606_3076662GCA[68] - PCR CAG68 - HTT_000017 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
-/. 1 - c.95_96del - r.(?) p.(Gln32ProfsTer52) - - benign g.3076641_3076642del g.3074914_3074915del HTT(NM_002111.8):c.95_96delAG (p.Q32Pfs*52) - HTT_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.99_116del - r.(?) p.(Gln35_Gln40del) - - benign g.3076651_3076662del - HTT(NM_002111.8):c.105_116delGCAGCAGCAGCA (p.Q37_Q40del) - HTT_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.102_111del - r.(?) p.(Gln34HisfsTer66) - - benign g.3076648_3076657del g.3074921_3074930del HTT(NM_002111.8):c.102_111delGCAGCAGCAG (p.Q34Hfs*66) - HTT_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.105_106del - r.(?) p.(Gln36AlafsTer48) - - benign g.3076651_3076652del - HTT(NM_002111.8):c.105_106delGC (p.Q36Afs*48) - HTT_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.105_116del - r.(?) p.(Gln37_Gln40del) - - benign g.3076657_3076662del - HTT(NM_002111.8):c.111_116delGCAGCA (p.Q39_Q40del) - HTT_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.108_111del - r.(?) p.(Gln36HisfsTer66) - - benign g.3076654_3076657del - HTT(NM_002111.8):c.108_111delGCAG (p.Q36Hfs*66) - HTT_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.108_116del - r.(?) p.(Gln38_Gln40del) - - likely benign g.3076660_3076662del - HTT(NM_002111.8):c.114_116delGCA (p.Q40del) - HTT_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/., -?/. 2 - c.108_116dup - r.(?) p.(Gln38_Gln40dup) - - benign, likely benign g.3076648_3076662dup - HTT(NM_002111.8):c.102_116dupGCAGCAGCAGCAGCA (p.Q36_Q40dup) - HTT_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 1 - c.114_116del - r.(?) p.(Gln40del) - - likely benign g.3076660_3076662dup - HTT(NM_002111.8):c.114_116dupGCA (p.Q40dup) - HTT_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.114_116dup - r.(?) p.(Gln40dup) - - likely benign g.3076654_3076662dup - HTT(NM_002111.8):c.108_116dupGCAGCAGCA (p.Q38_Q40dup) - HTT_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.117_119dup - r.(?) p.(Gln40dup) - - VUS g.3076663_3076665dup - HTT(NM_002111.6):c.108_109insCAA (p.(Gln36dup)) - HTT_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/-, -/. 35 1 c.123_143GCC[10] C1, C1d, C1g, C5a, C7a, C7b r.(?) p.(Pro39[14]) P14, Q34P14, Q[17]P[14], Q[19]P[14], Q[20]P[14], Q[21]P[14], Q[40]P[14], Q[42]P[14], Q[43]P[14], 5 more items - benign g.3076675_3076695GCC[10], g.3076675_3076695GCC[11] - PCR CCG10, PCR CCG11, PCR CCG[10] - HTT_000008, HTT_000009 specific PCR CAG (Gln) and CCn (Pro) repeat Kay, submitted EJHG, PubMed: de Rooij 1993, PubMed: Squitier 1994 - - Germline - 64/191 chromosomes - - - Johan den Dunnen, Chris Kay
-/. 1 1 c.123_143GCC[11] - r.(?) p.(Pro39[15]) P15 - benign g.3076675_3076695GCC[11] - PCR CCG[11] - HTT_000009 - PubMed: Squitier 1994 - - Germline - 1/191 chromosomes - - - Johan den Dunnen
-/- 1 1 c.123_143GCC[4] A2a r.(?) p.(Pro39[8]) Q[48]P[8] - benign g.3076675_3076695GCC[4] - PCR CCG4 - HTT_000039 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
-/- 98 1 c.123_143GCC[7] A1a AMR, A1ax AMR, A1axA5a AMR-X, A1axC1 AMR, A1axC1 AMR-X, A1b EUR, A1_ EUR, A2a, A2b, A2bx, A2bxC1X, 7 more items r.(?), r.= p.(Pro39[11]) P11, Q15P11, Q21P11, Q37P11, Q39P11, Q[17]P[11], Q[18]P[11], Q[19]P[11], Q[20]P[11], Q[21]P[11], 23 more items - benign g.3076675_3076695GCC[7] - PCR CCG7, PCR CCG[7] - HTT_000006 reference allele, specific PCR CAG (Gln) and CCn (Pro) repeat Kay, submitted EJHG, reference, PubMed: de Rooij 1993, PubMed: Squitier 1994 - - Germline - 115/191 chromosomes - - - Johan den Dunnen, Chris Kay
-/- 1 1 c.123_143GCC[9] - r.(?) p.(Pro39[13]) P13 - benign g.3076675_3076695GCC[9] - PCR CCG[9] - HTT_000007 - PubMed: Squitier 1994 - - Germline - 11/191 chromosomes - - - Johan den Dunnen
-?/. 1 - c.135G>A - r.(?) p.(Pro45=) - - likely benign g.3076681G>A g.3074954G>A HTT(NM_002111.8):c.135G>A (p.P45=) - HTT_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.140C>A - r.(?) p.(Pro47Gln) - - benign g.3076686C>A g.3074959C>A HTT(NM_002111.8):c.140C>A (p.P47Q) - HTT_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.141_149dup - r.(?) p.(Pro49_Pro51dup) - - benign g.3076687_3076695dup - HTT(NM_002111.8):c.141_149dupGCCGCCGCC (p.P49_P51dup) - HTT_000200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.143C>A - r.(?) p.(Pro48Gln) - - benign g.3076689C>A g.3074962C>A HTT(NM_002111.8):c.143C>A (p.P48Q) - HTT_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.147G>T - r.(?) p.(Pro49=) - - likely benign g.3076693G>T g.3074966G>T HTT(NM_002111.8):c.147G>T (p.P49=) - HTT_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/- 66 1i c.263+3423T= A1b EUR, A1_ EUR, A2a, A2b, A2bx, A2bxC1X, A3<xC, A5a, A5b, A6x, B1a, B2a, B2b, C1, C1d, C5a, C7a, 1 more item r.(?) p.(=) - - benign g.3080238T= - - - HTT_000135 1 more item Kay, submitted EJHG - rs12508079 Germline - - - - - Chris Kay
-/- 56 1i c.263+3423T>C A1a AMR, A1ax AMR, A1axA5a AMR-X, A1axC1 AMR, A1axC1 AMR-X, A5a r.(?) p.(=) - - benign g.3080238T>C g.3078511T>C - - HTT_000043 1 more item Kay, submitted EJHG - rs12508079 Germline - - - - - Chris Kay
-/- 91 2i c.347+510A= A1a AMR, A1ax AMR, A1axA5a AMR-X, A1axC1 AMR, A1axC1 AMR-X, A1b EUR, A1_ EUR, A2a, A2b, A2bx, A2bxC1X, 7 more items r.(?) p.(=) - - benign g.3089259A= - - - HTT_000102 1 more item Kay, submitted EJHG - rs2285086 Germline - - - - - Chris Kay
-/- 33 2i c.347+510A>G C1, C1d, C1g, C5a, C7a, C7b r.(?) p.(=) - - benign g.3089259A>G g.3087532A>G - - HTT_000138 1 more item Kay, submitted EJHG - rs2285086 Germline - - - - - Chris Kay
-/- 67 2i c.348-2680C= A1a AMR, A1axA5a AMR-X, A1_ EUR, A2a, A2b, A2bxC1X, A3<xC, A5a, A5b, A6x, B1a, B2a, C1, C1d, C7a, 1 more item r.(?) p.(=) - - benign, VUS g.105798263C>T, g.111739379C>T, g.18122506G>A, g.216465694G>C, g.3098321C=, 7 more items g.104038505C>T, g.18122275G>A, g.216292352G>C, g.49470424_49470425del, g.49474034G>C, 5 more items chr10:g.50348475_50348476del - ALG9_000016, BBS1_000061, BBS1_000062, CDH23_000091, COL17A1_000001, ERCC6_000002, ERCC6_000003, 5 more items 2 more items Kay, submitted EJHG, PubMed: Almomani 2011 {dbSNP:10502151}, PubMed: Almomani 2011 {dbSNP:2298806}, 1 more item - rs7659144 Germline - - - - - Gerard C.P. Schaafsma, Chris Kay
-/-, ./. 28 2i c.348-2680C>G A1a AMR, A2a, C1, C1g, C5a r.(=), r.(?) p.(=) - - benign, VUS g.108098576C>G, g.3098321C>G, g.32006387A>T, g.32007849G>C, g.50690735G>A, 1 more item g.108227849C>G, g.3096594C>G, g.32038610A>T, g.32040072G>C, g.49482689G>A, 1 more item - - ATM_000007, CYP21A2_000001, CYP21A2_000002, ERCC6_000001, ERCC6_000004 Not known correct genotype, 1 more item Kay, submitted EJHG - rs7659144 Germline - - - - - Gerard C.P. Schaafsma, Chris Kay
-/- 94 3i c.469-1161= A1a AMR, A1ax AMR, A1axA5a AMR-X, A1axC1 AMR, A1axC1 AMR-X, A1b EUR, A1_ EUR, A2a, A2b, A2bx, A2bxC1X, 10 more items r.(?) p.(=) - - benign g.3104390C= - - - HTT_000103 1 more item Kay, submitted EJHG - rs16843804 Germline - - - - - Chris Kay
-/- 30 3i c.469-1161C>T C1, C1d, C1g r.(?) p.(=) - - benign g.3104390C>T g.3102663C>T - - HTT_000137 1 more item Kay, submitted EJHG - rs16843804 Germline - - - - - Chris Kay
-/- 91 3i c.469-983A= A1a AMR, A1ax AMR, A1axA5a AMR-X, A1axC1 AMR, A1axC1 AMR-X, A1b EUR, A1_ EUR, A2a, A2b, A2bx, A2bxC1X, 7 more items r.(?) p.(=) - - benign g.3104568A= - - - HTT_000108 1 more item Kay, submitted EJHG - rs2024115 Germline - - - - - Chris Kay
-/- 33 3i c.469-983A>G C1, C1d, C1g, C5a, C7a, C7b r.(?) p.(=) - - benign g.3104568A>G g.3102841A>G - - HTT_000144 1 more item Kay, submitted EJHG - rs2024115 Germline - - - - - Chris Kay
-/- 120 5i c.608+171C= A1a AMR, A1ax AMR, A1axA5a AMR-X, A1axC1 AMR, A1axC1 AMR-X, A1b EUR, A1_ EUR, A2a, A2b, A2bx, A2bxC1X, 12 more items r.(?) p.(=) - - benign g.3107334C= - - - HTT_000064 1 more item Kay, submitted EJHG - rs3733217 Germline - - - - - Chris Kay
-/- 4 5i c.608+171C>T B1a r.(?) p.(=) - - benign g.3107334C>T g.3105607C>T - - HTT_000147 1 more item Kay, submitted EJHG - rs3733217 Germline - - - - - Chris Kay
-?/. 1 - c.698C>T - r.(?) p.(Ala233Val) - - likely benign g.3109095C>T g.3107368C>T HTT(NM_002111.8):c.698C>T (p.A233V) - HTT_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/- 35 6i c.747+292A= A2a, A2b, A2bxC1X, A6x, B1a, B2a, C1, C1d, C5a, C7a, C7b r.(?) p.(=) - - benign g.3109442A= - - - HTT_000104 1 more item Kay, submitted EJHG - rs10015979 Germline - - - - - Chris Kay
-/- 55 6i c.747+292A>G A1a AMR, A1axA5a AMR-X, A1_ EUR, A3<xC, A5a, A5b, C1g r.(?) p.(=) - - benign g.3109442A>G g.3107715A>G - - HTT_000122 1 more item Kay, submitted EJHG - rs10015979 Germline - - - - - Chris Kay
-/- 91 6i c.747+2260G= A1a AMR, A1ax AMR, A1axA5a AMR-X, A1axC1 AMR, A1axC1 AMR-X, A1b EUR, A1_ EUR, A2a, A2b, A2bx, A2bxC1X, 7 more items r.(?) p.(=) - - benign g.3111410G= - - - HTT_000076 1 more item Kay, submitted EJHG - rs7691627 Germline - - - - - Chris Kay
-/- 33 6i c.747+2260G>A C1, C1d, C1g, C5a, C7a, C7b r.(?) p.(=) - - benign g.3111410G>A g.3109683G>A - - HTT_000063 1 more item Kay, submitted EJHG - rs7691627 Germline - - - - - Chris Kay
-/- 115 6i c.748-2199G= A1a AMR, A1ax AMR, A1axA5a AMR-X, A1axC1 AMR, A1axC1 AMR-X, A1b EUR, A1_ EUR, A3<xC, A5a, A5b, A6x, 9 more items r.(?) p.(=) - - benign g.3114832G= - - - HTT_000059 1 more item Kay, submitted EJHG - rs2798235 Germline - - - - - Chris Kay
-/- 9 6i c.748-2199G>A A2a, A2b, A2bx, A2bxC1X r.(?) p.(=) - - benign g.3114832G>A g.3113105G>A - - HTT_000058 1 more item Kay, submitted EJHG - rs2798235 Germline - - - - - Chris Kay
-/- 124 7 c.885C= A1a AMR, A1ax AMR, A1axA5a AMR-X, A1axC1 AMR, A1axC1 AMR-X, A1b EUR, A1_ EUR, A2a, A2b, A2bx, A2bxC1X, 13 more items r.(?) p.(Leu295=) - - benign g.3117168C= - - - HTT_000046 1 more item Kay, submitted EJHG - rs1936032 Germline - - - - - Chris Kay
-?/. 1 - c.1020C>T - r.(?) p.(Phe340=) - - likely benign g.3117936C>T g.3116209C>T HTT(NM_002111.8):c.1020C>T (p.F340=) - HTT_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/- 91 8i c.1069-448T= A1a AMR, A1ax AMR, A1axA5a AMR-X, A1axC1 AMR, A1axC1 AMR-X, A1b EUR, A1_ EUR, A2a, A2b, A2bx, A2bxC1X, 7 more items r.(?) p.(=) - - benign g.3122507T= - - - HTT_000106 1 more item Kay, submitted EJHG - rs4690072 Germline - - - - - Chris Kay
-/- 33 8i c.1069-448T>G C1, C1d, C1g, C5a, C7a, C7b r.(?) p.(=) - - benign g.3122507T>G g.3120780T>G - - HTT_000085 1 more item Kay, submitted EJHG - rs4690072 Germline - - - - - Chris Kay
?/. 1 - c.1109A>C - r.(?) p.(Gln370Pro) - - VUS g.3122989A>C - HTT(NM_002111.8):c.1109A>C (p.Q370P) - HTT_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/- 91 10i c.1322-463T= A1a AMR, A1ax AMR, A1axA5a AMR-X, A1axC1 AMR, A1axC1 AMR-X, A1b EUR, A1_ EUR, A2a, A2b, A2bx, A2bxC1X, 7 more items r.(?) p.(=) - - benign g.3126813T= - - - HTT_000079 1 more item Kay, submitted EJHG - rs6446723 Germline - - - - - Chris Kay
-/- 33 10i c.1322-463T>C C1, C1d, C1g, C5a, C7a, C7b r.(?) p.(=) - - benign g.3126813T>C g.3125086T>C - - HTT_000077 1 more item Kay, submitted EJHG - rs6446723 Germline - - - - - Chris Kay
?/. 1 - c.1802A>G - r.(?) p.(Gln601Arg) - - VUS g.3131703A>G - HTT(NM_002111.8):c.1802A>G (p.Q601R) - HTT_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2093G>A - r.(?) p.(Gly698Glu) - - VUS g.3133113G>A g.3131386G>A HTT(NM_002111.8):c.2093G>A (p.G698E) - HTT_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/- 115 16i c.2237-378C= A1a AMR, A1ax AMR, A1axA5a AMR-X, A1axC1 AMR, A1axC1 AMR-X, A1b EUR, A1_ EUR, A3<xC, A5a, A5b, A6x, 9 more items r.(?) p.(=) - - benign g.3133911C= - - - HTT_000042 1 more item Kay, submitted EJHG - rs363080 Germline - - - - - Chris Kay
-/- 9 16i c.2237-378C>T A2a, A2b, A2bx, A2bxC1X r.(?) p.(=) - - benign g.3133911C>T g.3132184C>T - - HTT_000149 1 more item Kay, submitted EJHG - rs363080 Germline - - - - - Chris Kay
-?/. 1 - c.2523C>T - r.(?) p.(Ser841=) - - likely benign g.3136151C>T g.3134424C>T HTT(NM_002111.8):c.2523C>T (p.S841=) - HTT_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/- 118 20 c.2677G= A1a AMR, A1ax AMR, A1axA5a AMR-X, A1axC1 AMR, A1axC1 AMR-X, A1b EUR, A1_ EUR, A2b, A2bx, A2bxC1X, A5a, 12 more items r.(?) p.(Gly893=) - - benign g.3137674G= - - - HTT_000071 1 more item Kay, submitted EJHG - rs363075 Germline - - - - - Chris Kay
-?/-? 6 20 c.2677G>A A2a r.(?) p.(Gly893Arg) - - benign g.3137674G>A g.3135947G>A - - HTT_000070 1 more item Kay, submitted EJHG - rs363075 Germline - - - - - Chris Kay
-/- 94 21i c.2799-827C= A1a AMR, A1ax AMR, A1axA5a AMR-X, A1axC1 AMR, A1axC1 AMR-X, A1b EUR, A1_ EUR, A2a, A2b, A2bx, A2bxC1X, 10 more items r.(?) p.(=) - - benign g.3141410C= - - - HTT_000113 1 more item Kay, submitted EJHG - rs363064 Germline - - - - - Chris Kay
-/- 30 21i c.2799-827C>T C1, C1d, C1g r.(?) p.(=) - - benign g.3141410C>T g.3139683C>T - - HTT_000142 1 more item Kay, submitted EJHG - rs363064 Germline - - - - - Chris Kay
-?/. 1 - c.2913G>A - r.(?) p.(Thr971=) - - likely benign g.3142345G>A g.3140618G>A HTT(NM_002111.8):c.2913G>A (p.T971=) - HTT_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/- 117 22i c.2945+145A= A1a AMR, A1ax AMR, A1axA5a AMR-X, A1axC1 AMR, A1axC1 AMR-X, A1b EUR, A1_ EUR, A2a, A2b, A2bx, A2bxC1X, 9 more items r.(?) p.(=) - - benign g.3142528A= - - - HTT_000040 1 more item Kay, submitted EJHG - rs363072 Germline - - - - - Chris Kay
-/- 7 24i c.2945+145A>T B1a, B2a, B2b, C5a r.(?) p.(=) - - benign g.3142528A>T g.3140801A>T - - HTT_000143 1 more item Kay, submitted EJHG - rs363072 Germline - - - - - Chris Kay
-/- 31 22i c.2946-52A= A1a AMR, A1ax AMR, A1axC1 AMR, A1axC1 AMR-X, A1b EUR, A5a, A5b, B1a, B2b, C1 r.(?) p.(=) - - benign g.3144441A= - - - HTT_000073 1 more item Kay, submitted EJHG - rs363107 Germline - - - - - Chris Kay
-/- 3 22i c.2946-52A>G A2a, A2bx r.(?) p.(=) - - benign g.3144441A>G g.3142714A>G - - HTT_000128 1 more item Kay, submitted EJHG - rs363107 Germline - - - - - Chris Kay
-/- 18 22i c.2946+280= A2a, A2bx, A5a, A5b, B1a, B2b, C1 r.(?) p.(=) - - benign g.3142663= - - - HTT_000115 1 more item Kay, submitted EJHG - rs72239206 Germline - - - - - Chris Kay
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