Unique variants in gene HTT

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

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

Reported     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

DNA/Legacy     

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? - 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, A1axA5a AMR-X, A2a, A1_ EUR, A5b, A5a, A2bxC1X, A2b, A6x, A3<xC, A1ax AMR, A1axC1 AMR, 3 more items - r.(?) p.(=) - g.3074795A= - - - HTT_000082 - Kay, submitted EJHG - rs762855 Germline - - - - - Chris Kay
-/- 39 _1 c.-1758A>G C7b, C7a, B2a, B1a, C5a, C1d, C1, C1g, B2b - r.(?) p.(=) - g.3074795A>G g.3073068A>G - - HTT_000129 - Kay, submitted EJHG - rs762855 Germline - - - - - Chris Kay
-/- 84 1 c.-148G= A1a AMR, A1axA5a AMR-X, A2a, A1_ EUR, A5b, A5a, A2bxC1X, A2b, A6x, A3<xC, C5a, C1d, C1, C1g - r.(?) p.(=) - g.3076405G= - - - HTT_000057 - Kay, submitted EJHG - rs13102260 Germline - - - - - Chris Kay
-/- 6 1 c.-148G>A B2a, B1a, C7b, C7a - r.(?) p.(=) - g.3076405G>A g.3074678G>A - - HTT_000056 - Kay, submitted EJHG - rs13102260 Germline - - - - - Chris Kay
-/. 1 1 c.53_55[13] - - r.(?) p.(Gln18[15]) Q15P11 g.3076605_3076607[13] - PCR CAG13 - HTT_000002 specific PCR CAG (Gln) and CCG (Pro) repeat PubMed: de Rooij 1993 - - Germline - - - - - Johan den Dunnen
-/- 9 1 c.53_55[15] C7b, A5b, C7a - r.(?) p.(Gln18[17]) Q[17]P[14], Q[17]P[11] g.3076605_3076607[15] - PCR CAG15 - HTT_000031 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
-/- 1 1 c.53_55[16] A5a - r.(?) p.(Gln18[18]) Q[18]P[11] g.3076605_3076607[16] - PCR CAG16 - HTT_000033 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
-/- 23 1 c.53_55[17] C1, A5a, C5a, C1g - r.(?) p.(Gln18[19]) Q[19]P[14], Q[19]P[11] g.3076605_3076607[17] - PCR CAG17 - HTT_000030 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
-/- 8 1 c.53_55[18] B2a, B1a, C1 - r.(?) p.(Gln18[20]) Q[20]P[11], Q[20]P[14] g.3076605_3076607[18] - PCR CAG18 - HTT_000029 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
-/., -/- 6 1 c.53_55[19] A2b, B1a, C1 - r.=, r.(?) p.(Gln18[21]) Q21P11, Q[21]P[11], Q[21]P[14] g.3076605_3076607[19] - PCR CAG19 - HTT_000000 reference allele Kay, submitted EJHG - - Germline - - - - - Johan den Dunnen, Chris Kay
-/- 3 1 c.53_55[20] A2bxC1X, A6x, A3<xC - r.(?) p.(Gln18[22]) Q[22]P[11] g.3076605_3076607[20] - PCR CAG20 - HTT_000034 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
-/- 3 1 c.53_55[21] A1a AMR, A1axC1 AMR - r.(?) p.(Gln18[23]) Q[23]P[11] g.3076605_3076607[21] - PCR CAG21 - HTT_000036 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
-/- 2 1 c.53_55[22] A1a AMR, A1axC1 AMR-X - r.(?) p.(Gln18[24]) Q[24]P[11] g.3076605_3076607[22] - PCR CAG22 - HTT_000037 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
-/- 3 1 c.53_55[23] A1a AMR - r.(?) p.(Gln18[25]) Q[25]P[11] g.3076605_3076607[23] - PCR CAG23 - HTT_000035 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
-/- 1 1 c.53_55[24] A1a AMR - r.(?) p.(Gln18[26]) Q[26]P[11] g.3076605_3076607[24] - PCR CAG24 - HTT_000038 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
-/- 2 1 c.53_55[26] A1b EUR, B2b - r.(?) p.(Gln18[28]) Q[28]P[11] g.3076605_3076607[26] - PCR CAG26 - HTT_000032 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
-/. 1 1 c.53_55[32] - - r.(?) p.(Gln18[34]) Q34P14 g.3076605_3076607[32] - PCR CAG32 - HTT_000001 specific PCR CAG (Gln) and CCG (Pro) repeat PubMed: de Rooij 1993 - - Germline - - - - - Johan den Dunnen
?/., +?/., +?/? 4 1 c.53_55[35] A1a AMR - r.(?) p.(Gln18[37]) Q37P11, Q[37]P[11] g.3076605_3076607[35] - PCR CAG35 - HTT_000003 specific PCR CAG (Gln) and CCG (Pro) repeat, contracted allele -2 PubMed: de Rooij 1993, Kay, submitted EJHG - - Germline - - - - - Johan den Dunnen, Chris Kay
+/+ 3 1 c.53_55[37] A1a AMR - r.(?) p.(Gln18[39]) Q39P11, Q[39]P[11] g.3076605_3076607[37] - PCR CAG37 - HTT_000005 specific PCR CAG (Gln) and CCG (Pro) repeat PubMed: de Rooij 1993, Kay, submitted EJHG - - Germline - - - - - Johan den Dunnen, Chris Kay
+/+ 1 1 c.53_55[38] C1d - r.(?) p.(Gln18[40]) Q[40]P[14] g.3076605_3076607[38] - PCR CAG38 - HTT_000012 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
+/+ 1 1 c.53_55[40] C1 - r.(?) p.(Gln18[42]) Q[42]P[14] g.3076605_3076607[40] - PCR CAG40 - HTT_000028 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
+/+ 5 1 c.53_55[41] A1a AMR, C1, A2a, A2bx - r.(?) p.(Gln18[43]) Q[43]P[11], Q[43]P[14] g.3076605_3076607[41] - PCR CAG41 - HTT_000021 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
+/+ 3 1 c.53_55[42] A1a AMR - r.(?) p.(Gln18[44]) Q[44]P[11] g.3076605_3076607[42] - PCR CAG42 - HTT_000023 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
+/+ 10 1 c.53_55[43] A1a AMR, A2a, C1 - r.(?) p.(Gln18[45]) Q[45]P[11], Q[45]P[14] g.3076605_3076607[43] - PCR CAG43 - HTT_000014 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
+/+ 5 1 c.53_55[44] C1, A1a AMR, A1axA5a AMR-X, A1ax AMR, A2a - r.(?) p.(Gln18[46]) Q[46]P[14], Q[46]P[11] g.3076605_3076607[44] - PCR CAG44 - HTT_000013 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
+/+ 5 1 c.53_55[45] A1a AMR, A1_ EUR - r.(?) p.(Gln18[47]) Q[47]P[11] g.3076605_3076607[45] - PCR CAG45 - HTT_000022 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
+/+ 11 1 c.53_55[46] A1a AMR, C1, A2a - r.(?) p.(Gln18[48]) Q[48]P[11], Q[48]P[14], Q[48]P[8] g.3076605_3076607[46] - PCR CAG46 - HTT_000015 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
+/+ 3 1 c.53_55[47] A1a AMR - r.(?) p.(Gln18[49]) Q[49]P[11] g.3076605_3076607[47] - PCR CAG47 - HTT_000011 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
+/+ 4 1 c.53_55[48] A1a AMR - r.(?) p.(Gln18[50]) Q[50]P[11] g.3076605_3076607[48] - PCR CAG48 - HTT_000019 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
+/+ 4 1 c.53_55[49] A1a AMR, C1 - r.(?) p.(Gln18[51]) Q[51]P[11], Q[51]P[14] g.3076605_3076607[49] - PCR CAG49 - HTT_000018 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
+/+ 4 1 c.53_55[50] A1a AMR, A2a, A1_ EUR - r.(?) p.(Gln18[52]) Q[52]P[11] g.3076605_3076607[50] - PCR CAG50 - HTT_000020 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
+/+ 1 1 c.53_55[52] A1a AMR - r.(?) p.(Gln18[54]) Q[54]P[11] g.3076605_3076607[52] - PCR CAG52 - HTT_000027 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
+/+ 1 1 c.53_55[55] C1 - r.(?) p.(Gln18[57]) Q[57]P[14] g.3076605_3076607[55] - PCR CAG55 - HTT_000016 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
+/+ 1 1 c.53_55[61] A1a AMR - r.(?) p.(Gln18[63]) Q[63]P[11] g.3076605_3076607[61] - PCR CAG61 - HTT_000026 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
+/+ 1 1 c.53_55[63] A1a AMR - r.(?) p.(Gln18[65]) Q[65]P[11] g.3076605_3076607[63] - PCR CAG63 - HTT_000024 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
+/+ 1 1 c.53_55[64] A1a AMR - r.(?) p.(Gln18[66]) Q[66]P[11] g.3076605_3076607[64] - PCR CAG64 - HTT_000025 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
+/+ 1 1 c.53_55[68] A1a AMR - r.(?) p.(Gln18[70]) Q[70]P[11] g.3076605_3076607[68] - PCR CAG68 - HTT_000017 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
-/. 1 - c.58_63del - benign r.(?) p.(Gln37_Gln38del) - g.3076610_3076615del - HTT:c.111_116delGCAGCA (Q39_Q40del) - HTT_000155 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.61_72del - benign r.(?) p.(Gln35_Gln38del) - g.3076613_3076624del - HTT:c.105_116delGCAGCAGCAGCA (Q37_Q40del) - HTT_000156 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.62_63insCAG - benign r.(?) p.(Gln21delinsHisArg) - g.3076614_3076615insCAG - HTT:c.114_116dupGCA (Q40dup) - HTT_000157 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.62_63insCAGCAGCAGCAGCAG - benign r.(?) p.(Gln21delinsHisSerSerSerSerArg) - g.3076614_3076615insCAGCAGCAGCAGCAG - HTT:c.102_116dupGCAGCAGCAGCAGCA (Q36_Q40dup) - HTT_000158 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.96_105del - benign r.(?) p.(Gln32Hisfs*66) - g.3076648_3076657del - HTT:c.102_111delGCAGCAGCAG (Q34Hfs*66) - HTT_000159 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.99_100del - benign r.(?) p.(Gln34Alafs*48) - g.3076651_3076652del - HTT:c.105_106delGC (Q36Afs*48) - HTT_000160 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.102_105del - benign r.(?) p.(Gln34Hisfs*66) - g.3076654_3076657del - HTT:c.108_111delGCAG (Q36Hfs*66) - HTT_000161 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.111_113dup - likely benign r.(?) p.(Gln38dup) - g.3076663_3076665dup - HTT:NM_002111.6:c.108_109insCAA - HTT_000162 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/-, -/. 35 1 c.123_125[10] C1, C7b, C5a, C1g, C7a, C1d - r.(?) p.(Pro39[14]) Q[19]P[14], Q[17]P[14], Q[20]P[14], Q[21]P[14], P14, Q34P14, Q[40]P[14], Q[46]P[14], Q[57]P[14], 5 more items g.3076675_3076677[10], g.3076675_3076677[11] - PCR CCG10, PCR CCG[10], PCR CCG11 - HTT_000008, HTT_000009 specific PCR CAG (Gln) and CCn (Pro) repeat Kay, submitted EJHG, PubMed: Squitier 1994, PubMed: de Rooij 1993 - - Germline - 64/191 chromosomes - - - Chris Kay, Johan den Dunnen
-/. 1 1 c.123_125[11] - - r.(?) p.(Pro39[15]) P15 g.3076675_3076677[11] - PCR CCG[11] - HTT_000009 - PubMed: Squitier 1994 - - Germline - 1/191 chromosomes - - - Johan den Dunnen
-/- 1 1 c.123_125[4] A2a - r.(?) p.(Pro39[8]) Q[48]P[8] g.3076675_3076677[4] - PCR CCG4 - HTT_000039 - Kay, submitted EJHG - - Germline - - - - - Chris Kay
-/- 98 1 c.123_125[7] A2bx, A1a AMR, B2a, A5b, A1b EUR, B1a, A5a, A2bxC1X, A2b, A6x, A3<xC, A1axC1 AMR, B2b, A1axC1 AMR-X, 4 more items - r.(?), r.= p.(Pro39[11]) Q[43]P[11], Q[51]P[11], Q[20]P[11], Q[37]P[11], Q[17]P[11], Q[28]P[11], Q[19]P[11], Q[18]P[11], P11, 24 more items g.3076675_3076677[7] - PCR CCG7, PCR CCG[7] - HTT_000006 specific PCR CAG (Gln) and CCn (Pro) repeat, reference allele Kay, submitted EJHG, PubMed: Squitier 1994, PubMed: de Rooij 1993, reference - - Germline - 115/191 chromosomes - - - Chris Kay, Johan den Dunnen
-/- 1 1 c.123_125[9] - - r.(?) p.(Pro39[13]) P13 g.3076675_3076677[9] - PCR CCG[9] - HTT_000007 - PubMed: Squitier 1994 - - Germline - 11/191 chromosomes - - - Johan den Dunnen
-?/. 1 - c.129G>A - likely benign r.(=) p.(=) - g.3076681G>A - HTT:c.135G>A (P45=) - HTT_000163 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.134C>A - benign r.(?) p.(Pro45Gln) - g.3076686C>A - HTT:c.140C>A (P47Q) - HTT_000164 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.137C>A - benign r.(?) p.(Pro46Gln) - g.3076689C>A - HTT:c.143C>A (P48Q) - HTT_000165 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/- 66 1i c.263+3423T= C1d, C1, A2a, A1_ EUR, A2bx, B2a, C7b, A5b, A1b EUR, B1a, A5a, A2bxC1X, A2b, C5a, A6x, A3<xC, C7a, 1 more item - r.(?) p.(=) - g.3080238T= - - - HTT_000135 - Kay, submitted EJHG - rs12508079 Germline - - - - - Chris Kay
-/- 56 1i c.263+3423T>C A1a AMR, A1axA5a AMR-X, A1ax AMR, A1axC1 AMR, A5a, A1axC1 AMR-X - r.(?) p.(=) - g.3080238T>C g.3078511T>C - - HTT_000043 - Kay, submitted EJHG - rs12508079 Germline - - - - - Chris Kay
-/- 91 2i c.347+510A= A1a AMR, A1axA5a AMR-X, A2a, A1_ EUR, A5b, A5a, A2bxC1X, A2b, A6x, A3<xC, A1ax AMR, A1axC1 AMR, B2a, 5 more items - r.(?) p.(=) - g.3089259A= - - - HTT_000102 - Kay, submitted EJHG - rs2285086 Germline - - - - - Chris Kay
-/- 33 2i c.347+510A>G C7b, C7a, C5a, C1d, C1, C1g - r.(?) p.(=) - g.3089259A>G g.3087532A>G - - HTT_000138 - Kay, submitted EJHG - rs2285086 Germline - - - - - Chris Kay
-/- 67 2i c.348-2680C= A1a AMR, C1, C7b, A5b, A2a, A5a, B1a, A2bxC1X, A2b, A1_ EUR, C1d, A6x, C7a, A1axA5a AMR-X, A3<xC, 1 more item - r.(?) p.(=) - g.3098321C=, g.5924535G>C, g.5940243G>A, g.18122506G>A, g.216465694G>C, g.73490271A>G, 6 more items g.18122275G>A, g.216292352G>C, g.71730514A>G, g.104038505C>T, g.66514624G>A, 1 more item chr10:g.50348475_50348476del - MTHFR_000001, NPHP4_000006, NPHP4_000002, NHLRC1_000001, USH2A_000182, CDH23_000091, COL17A1_000001, 5 more items - Kay, submitted EJHG, PubMed: Almomani 2011 dbSNP, PubMed: Almomani 2011 dbSNP, 1 more item - rs7659144 Germline - - - - - Chris Kay, Gerard C.P. Schaafsma
-/-, ./. 28 2i c.348-2680C>G A1a AMR, C1, C1g, A2a, C5a - r.(?), r.(=) p.(=) - g.3098321C>G, g.32007849G>C, g.32006387A>T, g.50690735G>A, g.50690735G>T, 1 more item g.3096594C>G, g.32040072G>C, g.32038610A>T, g.108227849C>G - - ERCC6_000001, CYP21A2_000001, CYP21A2_000002, ERCC6_000004, ATM_000007 Not known correct genotype Kay, submitted EJHG - rs7659144 Germline - - - - - Chris Kay, Gerard C.P. Schaafsma
-/- 94 3i c.469-1161= A1a AMR, A2a, A1_ EUR, A5b, A5a, A2bxC1X, A2b, A6x, A3<xC, A1ax AMR, A1axC1 AMR, A1axC1 AMR-X, A2bx, 8 more items - r.(?) p.(=) - g.3104390C= - - - HTT_000103 - Kay, submitted EJHG - rs16843804 Germline - - - - - Chris Kay
-/- 30 3i c.469-1161C>T C1d, C1, C1g - r.(?) p.(=) - g.3104390C>T g.3102663C>T - - HTT_000137 - Kay, submitted EJHG - rs16843804 Germline - - - - - Chris Kay
-/- 91 3i c.469-983A= A1a AMR, A1axA5a AMR-X, A2a, A1_ EUR, A5b, A5a, A2bxC1X, A2b, A6x, A3<xC, A1ax AMR, A1axC1 AMR, B2a, 5 more items - r.(?) p.(=) - g.3104568A= - - - HTT_000108 - Kay, submitted EJHG - rs2024115 Germline - - - - - Chris Kay
-/- 33 3i c.469-983A>G C7b, C7a, C5a, C1d, C1, C1g - r.(?) p.(=) - g.3104568A>G g.3102841A>G - - HTT_000144 - Kay, submitted EJHG - rs2024115 Germline - - - - - Chris Kay
-/- 120 5i c.608+171C= A1a AMR, A2a, A1_ EUR, A5b, A5a, A2bxC1X, A2b, A6x, A3<xC, A1ax AMR, A1axC1 AMR, A1axC1 AMR-X, A2bx, 10 more items - r.(?) p.(=) - g.3107334C= - - - HTT_000064 - Kay, submitted EJHG - rs3733217 Germline - - - - - Chris Kay
-/- 4 5i c.608+171C>T B1a - r.(?) p.(=) - g.3107334C>T g.3105607C>T - - HTT_000147 - Kay, submitted EJHG - rs3733217 Germline - - - - - Chris Kay
-?/. 1 - c.692C>T - likely benign r.(?) p.(Ala231Val) - g.3109095C>T - HTT:c.698C>T (A233V) - HTT_000166 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/- 35 6i c.747+292A= B2a, C1d, C1, C7b, A2a, A2bxC1X, A2b, B1a, C5a, A6x, C7a - r.(?) p.(=) - g.3109442A= - - - HTT_000104 - Kay, submitted EJHG - rs10015979 Germline - - - - - Chris Kay
-/- 55 6i c.747+292A>G A1a AMR, A5b, A5a, A1_ EUR, A1axA5a AMR-X, A3<xC, C1g - r.(?) p.(=) - g.3109442A>G g.3107715A>G - - HTT_000122 - Kay, submitted EJHG - rs10015979 Germline - - - - - Chris Kay
-/- 91 6i c.747+2260G= A3<xC, A1a AMR, A5b, A5a, A1_ EUR, A2a, A1ax AMR, A1axC1 AMR, B1a, A2bx, B2b, A1axC1 AMR-X, B2a, 5 more items - r.(?) p.(=) - g.3111410G= - - - HTT_000076 - Kay, submitted EJHG - rs7691627 Germline - - - - - Chris Kay
-/- 33 6i c.747+2260G>A C1d, C1, C7b, C5a, C1g, C7a - r.(?) p.(=) - g.3111410G>A g.3109683G>A - - HTT_000063 - Kay, submitted EJHG - rs7691627 Germline - - - - - Chris Kay
-/- 115 6i c.748-2199G= B2a, A1a AMR, C1d, C1, C7b, A5b, A1b EUR, B1a, A5a, A1_ EUR, C5a, A6x, A1axA5a AMR-X, A3<xC, C1g, 5 more items - r.(?) p.(=) - g.3114832G= - - - HTT_000059 - Kay, submitted EJHG - rs2798235 Germline - - - - - Chris Kay
-/- 9 6i c.748-2199G>A A2a, A2bxC1X, A2b, A2bx - r.(?) p.(=) - g.3114832G>A g.3113105G>A - - HTT_000058 - Kay, submitted EJHG - rs2798235 Germline - - - - - Chris Kay
-/- 124 7 c.885C= A1a AMR, C1, A2a, A5b, A1ax AMR, A1axC1 AMR, A5a, B1a, A2bx, B2b, A1axC1 AMR-X, B2a, C1d, C7b, A1b EUR, 9 more items - r.(?) p.(Leu295=) - g.3117168C= - - - HTT_000046 - Kay, submitted EJHG - rs1936032 Germline - - - - - Chris Kay
-?/. 1 - c.1014C>T - likely benign r.(=) p.(=) - g.3117936C>T - HTT:c.1020C>T (F340=) - HTT_000167 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/- 91 8i c.1069-448T= B2a, A1a AMR, A5b, A1b EUR, B1a, A2a, A5a, A2bxC1X, A2b, A1_ EUR, A6x, A1axA5a AMR-X, A3<xC, A2bx, 4 more items - r.(?) p.(=) - g.3122507T= - - - HTT_000106 - Kay, submitted EJHG - rs4690072 Germline - - - - - Chris Kay
-/- 33 8i c.1069-448T>G C1d, C1, C7b, C5a, C1g, C7a - r.(?) p.(=) - g.3122507T>G g.3120780T>G - - HTT_000085 - Kay, submitted EJHG - rs4690072 Germline - - - - - Chris Kay
-/- 91 10i c.1322-463T= A1a AMR, A2a, A5b, A1ax AMR, A1axC1 AMR, A5a, B1a, A2bx, B2b, A1axC1 AMR-X, B2a, A1b EUR, A2bxC1X, A2b, 4 more items - r.(?) p.(=) - g.3126813T= - - - HTT_000079 - Kay, submitted EJHG - rs6446723 Germline - - - - - Chris Kay
-/- 33 10i c.1322-463T>C C1d, C1, C7b, C5a, C1g, C7a - r.(?) p.(=) - g.3126813T>C g.3125086T>C - - HTT_000077 - Kay, submitted EJHG - rs6446723 Germline - - - - - Chris Kay
-/- 115 16i c.2237-378C= B2a, A1a AMR, C1d, C1, C7b, A5b, A1b EUR, B1a, A5a, A1_ EUR, C5a, A6x, A1axA5a AMR-X, A3<xC, C1g, 5 more items - r.(?) p.(=) - g.3133911C= - - - HTT_000042 - Kay, submitted EJHG - rs363080 Germline - - - - - Chris Kay
-/- 9 16i c.2237-378C>T A2a, A2bxC1X, A2b, A2bx - r.(?) p.(=) - g.3133911C>T g.3132184C>T - - HTT_000149 - Kay, submitted EJHG - rs363080 Germline - - - - - Chris Kay
-/- 118 20 c.2677G= A1axC1 AMR, A5a, A1a AMR, C1, B1a, B2b, A2bx, A5b, A1axC1 AMR-X, B2a, C1d, C7b, A1b EUR, A2bxC1X, A2b, 8 more items - r.(?) p.(Gly893=) - g.3137674G= - - - HTT_000071 - Kay, submitted EJHG - rs363075 Germline - - - - - Chris Kay
-?/-? 6 20 c.2677G>A A2a - r.(?) p.(Gly893Arg) - g.3137674G>A g.3135947G>A - - HTT_000070 - Kay, submitted EJHG - rs363075 Germline - - - - - Chris Kay
-/- 94 21i c.2799-827C= B2a, A1a AMR, C7b, A5b, A1b EUR, B1a, A2a, A5a, A2bxC1X, A2b, A1_ EUR, C5a, A6x, A1axA5a AMR-X, C7a, 6 more items - r.(?) p.(=) - g.3141410C= - - - HTT_000113 - Kay, submitted EJHG - rs363064 Germline - - - - - Chris Kay
-/- 30 21i c.2799-827C>T C1d, C1, C1g - r.(?) p.(=) - g.3141410C>T g.3139683C>T - - HTT_000142 - Kay, submitted EJHG - rs363064 Germline - - - - - Chris Kay
-/- 117 22i c.2945+145A= A2bx, A1a AMR, A5b, A1axC1 AMR-X, C1d, C1, C7b, A1b EUR, A2a, A5a, A2bxC1X, A2b, A1_ EUR, A6x, C1g, 5 more items - r.(?) p.(=) - g.3142528A= - - - HTT_000040 - Kay, submitted EJHG - rs363072 Germline - - - - - Chris Kay
-/- 7 24i c.2945+145A>T B2a, B1a, C5a, B2b - r.(?) p.(=) - g.3142528A>T g.3140801A>T - - HTT_000143 - Kay, submitted EJHG - rs363072 Germline - - - - - Chris Kay
-/- 31 22i c.2946-52A= A1b EUR, C1, A1a AMR, B1a, A5b, A1ax AMR, A1axC1 AMR, A5a, B2b, A1axC1 AMR-X - r.(?) p.(=) - g.3144441A= - - - HTT_000073 - Kay, submitted EJHG - rs363107 Germline - - - - - Chris Kay
-/- 3 22i c.2946-52A>G A2a, A2bx - r.(?) p.(=) - g.3144441A>G g.3142714A>G - - HTT_000128 - Kay, submitted EJHG - rs363107 Germline - - - - - Chris Kay
-/- 18 22i c.2946+280= C1, B1a, A5b, A2a, A5a, A2bx, B2b - r.(?) p.(=) - g.3142663= - - - HTT_000115 - Kay, submitted EJHG - rs72239206 Germline - - - - - Chris Kay
-/- 16 22i c.2946+280_2946+283del A1b EUR, A1a AMR, A1ax AMR, A1axC1 AMR, A1axC1 AMR-X - r.(?) p.(=) - g.3142663_3142666del - delACTT - HTT_000116 - Kay, submitted EJHG - rs72239206 Germline - - - - - Chris Kay
-/- 115 24i c.3143+313C= A1a AMR, C1d, C1, C7b, A1b EUR, A2a, A5a, A2bxC1X, A2b, A5b, A1_ EUR, C5a, A6x, A1axA5a AMR-X, C7a, 5 more items - r.(?) p.(=) - g.3147268C= - - - HTT_000084 - Kay, submitted EJHG - rs12502045 Germline - - - - - Chris Kay
-/- 9 24i c.3143+313C>T B2a, A5b, B1a, C1g, B2b - r.(?) p.(=) - g.3147268C>T g.3145541C>T - - HTT_000010 - Kay, submitted EJHG - rs12502045 Germline - - - - - Chris Kay
-/- 118 25 c.3190G= C1, C1g, A1a AMR, A5a, A1_ EUR, C7a, A5b, A1axC1 AMR, A1ax AMR, B1a, A2bx, B2b, A1axC1 AMR-X, B2a, C1d, 8 more items - r.(?) p.(Val1064=) - g.3148570G= - - - HTT_000081 - Kay, submitted EJHG - rs35892913 Germline - - - - - Chris Kay
-/- 6 25 c.3190G>A A2a - r.(?) p.(Val1064Ile) - g.3148570G>A g.3146843G>A - - HTT_000080 - Kay, submitted EJHG - rs35892913 Germline - - - - - Chris Kay
?/. 1 - c.3244G>C - VUS r.(?) p.(Asp1082His) - g.3148624G>C - HTT:NM_002111.6:c.3244G>C - HTT_000168 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/- 113 25i c.3295+341A= A1a AMR, B2a, C1d, C1, A5b, A1b EUR, B1a, A5a, A1_ EUR, C5a, A6x, A1axA5a AMR-X, A3<xC, C1g, B2b, 3 more items - r.(?) p.(=) - g.3149016A= - - - HTT_000078 - Kay, submitted EJHG - rs363102 Germline - - - - - Chris Kay
-/- 11 25i c.3295+341A>G C7b, A2a, A2bxC1X, A2b, C7a, A2bx - r.(?) p.(=) - g.3149016A>G g.3147289A>G - - HTT_000152 - Kay, submitted EJHG - rs363102 Germline - - - - - Chris Kay
-/- 56 26i c.3498+1879C= B2a, C1d, C1, A5b, B1a, C5a, A6x, C1g, B2b, C7b, A2a, A2bxC1X, A2b, C7a, A2bx - r.(?) p.(=) - g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - - - Chris Kay
-/- 68 26i c.3498+1879C>T A1a AMR, A1b EUR, A5a, A1_ EUR, A1axA5a AMR-X, A3<xC, A1axC1 AMR, A1ax AMR, A1axC1 AMR-X - r.(?) p.(=) - g.3151813C>T g.3150086C>T - - HTT_000127 - Kay, submitted EJHG - rs11731237 Germline - - - - - Chris Kay
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