1 |
CHST6
|
NM_021615.4(CHST6): c.521A> G (p.Lys174Arg)
|
single nucleotide variant |
Likely pathogenic |
rs28937877
|
GRCh37 |
Chromosome 16, 75513206: 75513206 |
2 |
CHST6
|
NM_021615.4(CHST6): c.521A> G (p.Lys174Arg)
|
single nucleotide variant |
Likely pathogenic |
rs28937877
|
GRCh38 |
Chromosome 16, 75479308: 75479308 |
3 |
CHST6
|
NM_021615.4(CHST6): c.609C> A (p.Asp203Glu)
|
single nucleotide variant |
Pathogenic |
rs28937878
|
GRCh37 |
Chromosome 16, 75513118: 75513118 |
4 |
CHST6
|
NM_021615.4(CHST6): c.609C> A (p.Asp203Glu)
|
single nucleotide variant |
Pathogenic |
rs28937878
|
GRCh38 |
Chromosome 16, 75479220: 75479220 |
5 |
CHST6
|
CHST6, REPLACEMENT OF 5-PRIME REGION
|
undetermined variant |
Pathogenic |
|
|
|
6 |
CHST6
|
CHST6, DELETION OF 5-PRIME REGION
|
deletion |
Pathogenic |
|
|
|
7 |
CHST6
|
NM_021615.4(CHST6): c.599T> G (p.Leu200Arg)
|
single nucleotide variant |
Pathogenic |
rs28937879
|
GRCh37 |
Chromosome 16, 75513128: 75513128 |
8 |
CHST6
|
NM_021615.4(CHST6): c.599T> G (p.Leu200Arg)
|
single nucleotide variant |
Pathogenic |
rs28937879
|
GRCh38 |
Chromosome 16, 75479230: 75479230 |
9 |
CHST6
|
NM_021615.4(CHST6): c.304T> G (p.Cys102Gly)
|
single nucleotide variant |
Pathogenic |
rs121917822
|
GRCh37 |
Chromosome 16, 75513423: 75513423 |
10 |
CHST6
|
NM_021615.4(CHST6): c.304T> G (p.Cys102Gly)
|
single nucleotide variant |
Pathogenic |
rs121917822
|
GRCh38 |
Chromosome 16, 75479525: 75479525 |
11 |
CHST6
|
NM_021615.4(CHST6): c.329A> G (p.Tyr110Cys)
|
single nucleotide variant |
Pathogenic |
rs72547544
|
GRCh37 |
Chromosome 16, 75513398: 75513398 |
12 |
CHST6
|
NM_021615.4(CHST6): c.329A> G (p.Tyr110Cys)
|
single nucleotide variant |
Pathogenic |
rs72547544
|
GRCh38 |
Chromosome 16, 75479500: 75479500 |
13 |
CHST6
|
NM_021615.4(CHST6): c.827T> C (p.Leu276Pro)
|
single nucleotide variant |
Pathogenic |
rs121917824
|
GRCh37 |
Chromosome 16, 75512900: 75512900 |
14 |
CHST6
|
NM_021615.4(CHST6): c.827T> C (p.Leu276Pro)
|
single nucleotide variant |
Pathogenic |
rs121917824
|
GRCh38 |
Chromosome 16, 75479002: 75479002 |
15 |
CHST6
|
NM_021615.4(CHST6): c.277C> A (p.Arg93Ser)
|
single nucleotide variant |
Pathogenic |
rs121917826
|
GRCh37 |
Chromosome 16, 75513450: 75513450 |
16 |
CHST6
|
NM_021615.4(CHST6): c.277C> A (p.Arg93Ser)
|
single nucleotide variant |
Pathogenic |
rs121917826
|
GRCh38 |
Chromosome 16, 75479552: 75479552 |
17 |
CHST6
|
NM_021615.4(CHST6): c.*5465C> T
|
single nucleotide variant |
Uncertain significance |
rs541989548
|
GRCh38 |
Chromosome 16, 75473176: 75473176 |
18 |
CHST6
|
NM_021615.4(CHST6): c.*5465C> T
|
single nucleotide variant |
Uncertain significance |
rs541989548
|
GRCh37 |
Chromosome 16, 75507074: 75507074 |
19 |
CHST6
|
NM_021615.4(CHST6): c.*4970T> C
|
single nucleotide variant |
Uncertain significance |
rs886052295
|
GRCh38 |
Chromosome 16, 75473671: 75473671 |
20 |
CHST6
|
NM_021615.4(CHST6): c.*4970T> C
|
single nucleotide variant |
Uncertain significance |
rs886052295
|
GRCh37 |
Chromosome 16, 75507569: 75507569 |
21 |
CHST6
|
NM_021615.4(CHST6): c.*4586T> C
|
single nucleotide variant |
Uncertain significance |
rs535487354
|
GRCh38 |
Chromosome 16, 75474055: 75474055 |
22 |
CHST6
|
NM_021615.4(CHST6): c.*4586T> C
|
single nucleotide variant |
Uncertain significance |
rs535487354
|
GRCh37 |
Chromosome 16, 75507953: 75507953 |
23 |
CHST6
|
NM_021615.4(CHST6): c.*4290A> C
|
single nucleotide variant |
Uncertain significance |
rs886052298
|
GRCh38 |
Chromosome 16, 75474351: 75474351 |
24 |
CHST6
|
NM_021615.4(CHST6): c.*4290A> C
|
single nucleotide variant |
Uncertain significance |
rs886052298
|
GRCh37 |
Chromosome 16, 75508249: 75508249 |
25 |
CHST6
|
NM_021615.4(CHST6): c.*3819G> C
|
single nucleotide variant |
Benign |
rs8063068
|
GRCh38 |
Chromosome 16, 75474822: 75474822 |
26 |
CHST6
|
NM_021615.4(CHST6): c.*3819G> C
|
single nucleotide variant |
Benign |
rs8063068
|
GRCh37 |
Chromosome 16, 75508720: 75508720 |
27 |
CHST6
|
NM_021615.4(CHST6): c.*3750C> A
|
single nucleotide variant |
Uncertain significance |
rs142693604
|
GRCh38 |
Chromosome 16, 75474891: 75474891 |
28 |
CHST6
|
NM_021615.4(CHST6): c.*3750C> A
|
single nucleotide variant |
Uncertain significance |
rs142693604
|
GRCh37 |
Chromosome 16, 75508789: 75508789 |
29 |
CHST6
|
NM_021615.4(CHST6): c.*3621A> G
|
single nucleotide variant |
Uncertain significance |
rs139900788
|
GRCh37 |
Chromosome 16, 75508918: 75508918 |
30 |
CHST6
|
NM_021615.4(CHST6): c.*3621A> G
|
single nucleotide variant |
Uncertain significance |
rs139900788
|
GRCh38 |
Chromosome 16, 75475020: 75475020 |
31 |
CHST6
|
NM_021615.4(CHST6): c.*3441A> T
|
single nucleotide variant |
Uncertain significance |
rs529530566
|
GRCh37 |
Chromosome 16, 75509098: 75509098 |
32 |
CHST6
|
NM_021615.4(CHST6): c.*3441A> T
|
single nucleotide variant |
Uncertain significance |
rs529530566
|
GRCh38 |
Chromosome 16, 75475200: 75475200 |
33 |
CHST6
|
NM_021615.4(CHST6): c.*3078G> A
|
single nucleotide variant |
Uncertain significance |
rs375112875
|
GRCh38 |
Chromosome 16, 75475563: 75475563 |
34 |
CHST6
|
NM_021615.4(CHST6): c.*3078G> A
|
single nucleotide variant |
Uncertain significance |
rs375112875
|
GRCh37 |
Chromosome 16, 75509461: 75509461 |
35 |
CHST6
|
NM_021615.4(CHST6): c.*2956G> A
|
single nucleotide variant |
Likely benign |
rs11860278
|
GRCh38 |
Chromosome 16, 75475685: 75475685 |
36 |
CHST6
|
NM_021615.4(CHST6): c.*2956G> A
|
single nucleotide variant |
Likely benign |
rs11860278
|
GRCh37 |
Chromosome 16, 75509583: 75509583 |
37 |
CHST6
|
NM_021615.4(CHST6): c.*2836T> C
|
single nucleotide variant |
Uncertain significance |
rs886052303
|
GRCh38 |
Chromosome 16, 75475805: 75475805 |
38 |
CHST6
|
NM_021615.4(CHST6): c.*2836T> C
|
single nucleotide variant |
Uncertain significance |
rs886052303
|
GRCh37 |
Chromosome 16, 75509703: 75509703 |
39 |
CHST6
|
NM_021615.4(CHST6): c.*2503G> A
|
single nucleotide variant |
Uncertain significance |
rs534652248
|
GRCh38 |
Chromosome 16, 75476138: 75476138 |
40 |
CHST6
|
NM_021615.4(CHST6): c.*2503G> A
|
single nucleotide variant |
Uncertain significance |
rs534652248
|
GRCh37 |
Chromosome 16, 75510036: 75510036 |
41 |
CHST6
|
NM_021615.4(CHST6): c.*2433A> C
|
single nucleotide variant |
Uncertain significance |
rs886052305
|
GRCh38 |
Chromosome 16, 75476208: 75476208 |
42 |
CHST6
|
NM_021615.4(CHST6): c.*2433A> C
|
single nucleotide variant |
Uncertain significance |
rs886052305
|
GRCh37 |
Chromosome 16, 75510106: 75510106 |
43 |
CHST6
|
NM_021615.4(CHST6): c.*2417C> T
|
single nucleotide variant |
Uncertain significance |
rs188632926
|
GRCh38 |
Chromosome 16, 75476224: 75476224 |
44 |
CHST6
|
NM_021615.4(CHST6): c.*2417C> T
|
single nucleotide variant |
Uncertain significance |
rs188632926
|
GRCh37 |
Chromosome 16, 75510122: 75510122 |
45 |
CHST6
|
NM_021615.4(CHST6): c.*1967C> T
|
single nucleotide variant |
Benign |
rs42967
|
GRCh38 |
Chromosome 16, 75476674: 75476674 |
46 |
CHST6
|
NM_021615.4(CHST6): c.*1967C> T
|
single nucleotide variant |
Benign |
rs42967
|
GRCh37 |
Chromosome 16, 75510572: 75510572 |
47 |
CHST6
|
NM_021615.4(CHST6): c.*1914A> G
|
single nucleotide variant |
Uncertain significance |
rs143764747
|
GRCh38 |
Chromosome 16, 75476727: 75476727 |
48 |
CHST6
|
NM_021615.4(CHST6): c.*1914A> G
|
single nucleotide variant |
Uncertain significance |
rs143764747
|
GRCh37 |
Chromosome 16, 75510625: 75510625 |
49 |
CHST6
|
NM_021615.4(CHST6): c.*1892delA
|
deletion |
Benign |
rs35225560
|
GRCh38 |
Chromosome 16, 75476749: 75476749 |
50 |
CHST6
|
NM_021615.4(CHST6): c.*1892delA
|
deletion |
Benign |
rs35225560
|
GRCh37 |
Chromosome 16, 75510647: 75510647 |