1 |
SLC16A1 |
NM_003051.3(SLC16A1):c.-202G>A |
SNV |
Pathogenic |
8916 |
rs387906403 |
1:113498814-113498814 |
1:112956192-112956192 |
2 |
SLC16A1 |
NM_003051.3(SLC16A1):c.-391_-390insACGCCGGTCACGTGGCGGGGTGGGG |
insertion |
Pathogenic |
8917 |
rs606231172 |
1:113499002-113499003 |
1:112956380-112956381 |
3 |
SLC16A1 |
NM_003051.3(SLC16A1):c.982C>T (p.Arg328Ter) |
SNV |
Pathogenic |
160370 |
rs606231310 |
1:113460046-113460046 |
1:112917424-112917424 |
4 |
SLC16A1 |
NM_003051.4(SLC16A1):c.328C>T (p.Gln110Ter) |
SNV |
Likely pathogenic |
827804 |
|
1:113464645-113464645 |
1:112922023-112922023 |
5 |
SLC16A1 |
NM_003051.3(SLC16A1):c.441C>T (p.Asn147=) |
SNV |
Conflicting interpretations of pathogenicity |
258903 |
rs150246870 |
1:113460587-113460587 |
1:112917965-112917965 |
6 |
SLC16A1 |
NM_003051.3(SLC16A1):c.1430T>C (p.Val477Ala) |
SNV |
Uncertain significance |
291852 |
rs886045067 |
1:113456586-113456586 |
1:112913964-112913964 |
7 |
SLC16A1 |
NM_003051.3(SLC16A1):c.1345G>A (p.Ala449Thr) |
SNV |
Uncertain significance |
291853 |
rs756006376 |
1:113456671-113456671 |
1:112914049-112914049 |
8 |
SLC16A1 |
NM_003051.3(SLC16A1):c.983G>T (p.Arg328Leu) |
SNV |
Uncertain significance |
291860 |
rs774823539 |
1:113460045-113460045 |
1:112917423-112917423 |
9 |
SLC16A1 |
NM_003051.3(SLC16A1):c.527G>A (p.Gly176Glu) |
SNV |
Uncertain significance |
291865 |
rs766830652 |
1:113460501-113460501 |
1:112917879-112917879 |
10 |
SLC16A1 |
NM_003051.3(SLC16A1):c.72T>A (p.Ile24=) |
SNV |
Uncertain significance |
291889 |
rs760137043 |
1:113471859-113471859 |
1:112929237-112929237 |
11 |
SLC16A1 |
NM_003051.3(SLC16A1):c.-87C>T |
SNV |
Uncertain significance |
291911 |
rs886045087 |
1:113498699-113498699 |
1:112956077-112956077 |
12 |
SLC16A1 |
NM_003051.3(SLC16A1):c.-360G>A |
SNV |
Uncertain significance |
291925 |
rs758825428 |
1:113498972-113498972 |
1:112956350-112956350 |
13 |
SLC16A1 |
NM_003051.3(SLC16A1):c.-201T>A |
SNV |
Uncertain significance |
436732 |
rs753315328 |
1:113498813-113498813 |
1:112956191-112956191 |
14 |
SLC16A1 |
NM_003051.3(SLC16A1):c.*815G>A |
SNV |
Uncertain significance |
291842 |
rs556305447 |
1:113455698-113455698 |
1:112913076-112913076 |
15 |
SLC16A1 |
NM_003051.3(SLC16A1):c.*739T>G |
SNV |
Uncertain significance |
291843 |
rs570060559 |
1:113455774-113455774 |
1:112913152-112913152 |
16 |
SLC16A1 |
NM_003051.3(SLC16A1):c.*603T>C |
SNV |
Uncertain significance |
291845 |
rs527658261 |
1:113455910-113455910 |
1:112913288-112913288 |
17 |
SLC16A1 |
NM_003051.4(SLC16A1):c.*1654A>G |
SNV |
Uncertain significance |
875888 |
|
1:113454859-113454859 |
1:112912237-112912237 |
18 |
SLC16A1 |
NM_003051.4(SLC16A1):c.*1134G>A |
SNV |
Uncertain significance |
876883 |
|
1:113455379-113455379 |
1:112912757-112912757 |
19 |
SLC16A1 |
NM_003051.4(SLC16A1):c.*1071T>C |
SNV |
Uncertain significance |
876884 |
|
1:113455442-113455442 |
1:112912820-112912820 |
20 |
SLC16A1 |
NM_003051.4(SLC16A1):c.*1044T>G |
SNV |
Uncertain significance |
876885 |
|
1:113455469-113455469 |
1:112912847-112912847 |
21 |
SLC16A1 |
NM_003051.4(SLC16A1):c.*946G>A |
SNV |
Uncertain significance |
874081 |
|
1:113455567-113455567 |
1:112912945-112912945 |
22 |
SLC16A1 |
NM_003051.4(SLC16A1):c.*739T>C |
SNV |
Uncertain significance |
874082 |
|
1:113455774-113455774 |
1:112913152-112913152 |
23 |
SLC16A1 |
NM_003051.4(SLC16A1):c.*657C>A |
SNV |
Uncertain significance |
874083 |
|
1:113455856-113455856 |
1:112913234-112913234 |
24 |
SLC16A1 |
NM_003051.4(SLC16A1):c.*361G>T |
SNV |
Uncertain significance |
875013 |
|
1:113456152-113456152 |
1:112913530-112913530 |
25 |
SLC16A1 |
NM_003051.4(SLC16A1):c.*137A>T |
SNV |
Uncertain significance |
875015 |
|
1:113456376-113456376 |
1:112913754-112913754 |
26 |
SLC16A1 |
NM_003051.4(SLC16A1):c.1367A>T (p.Glu456Val) |
SNV |
Uncertain significance |
875941 |
|
1:113456649-113456649 |
1:112914027-112914027 |
27 |
SLC16A1 |
NM_003051.4(SLC16A1):c.1281C>T (p.Gly427=) |
SNV |
Uncertain significance |
876928 |
|
1:113456735-113456735 |
1:112914113-112914113 |
28 |
SLC16A1 |
NM_003051.4(SLC16A1):c.680A>G (p.His227Arg) |
SNV |
Uncertain significance |
874138 |
|
1:113460348-113460348 |
1:112917726-112917726 |
29 |
SLC16A1 |
NM_003051.4(SLC16A1):c.540T>C (p.Ile180=) |
SNV |
Uncertain significance |
874139 |
|
1:113460488-113460488 |
1:112917866-112917866 |
30 |
SLC16A1 |
NM_003051.4(SLC16A1):c.295G>A (p.Gly99Ser) |
SNV |
Uncertain significance |
875999 |
|
1:113464678-113464678 |
1:112922056-112922056 |
31 |
SLC16A1 |
NC_000001.11:g.112956204G>C |
SNV |
Uncertain significance |
874247 |
|
1:113498826-113498826 |
1:112956204-112956204 |
32 |
SLC16A1 |
NC_000001.11:g.112956208C>T |
SNV |
Uncertain significance |
874248 |
|
1:113498830-113498830 |
1:112956208-112956208 |
33 |
SLC16A1 |
NC_000001.11:g.112956306C>T |
SNV |
Uncertain significance |
875169 |
|
1:113498928-113498928 |
1:112956306-112956306 |
34 |
SLC16A1 |
NC_000001.11:g.112956314A>C |
SNV |
Uncertain significance |
875170 |
|
1:113498936-113498936 |
1:112956314-112956314 |
35 |
SLC16A1 |
NM_003051.3(SLC16A1):c.*1801A>G |
SNV |
Uncertain significance |
291829 |
rs750135904 |
1:113454712-113454712 |
1:112912090-112912090 |
36 |
SLC16A1 |
NM_003051.3(SLC16A1):c.*104C>T |
SNV |
Uncertain significance |
291849 |
rs182505461 |
1:113456409-113456409 |
1:112913787-112913787 |
37 |
SLC16A1 |
NM_003051.3(SLC16A1):c.1117G>A (p.Val373Ile) |
SNV |
Uncertain significance |
291859 |
rs200802632 |
1:113459911-113459911 |
1:112917289-112917289 |
38 |
SLC16A1 |
NM_003051.3(SLC16A1):c.-92G>T |
SNV |
Uncertain significance |
291912 |
rs144301005 |
1:113498704-113498704 |
1:112956082-112956082 |
39 |
SLC16A1 |
NM_003051.3(SLC16A1):c.-313T>C |
SNV |
Uncertain significance |
291921 |
rs886045090 |
1:113498925-113498925 |
1:112956303-112956303 |
40 |
SLC16A1 |
NM_003051.3(SLC16A1):c.*1064G>T |
SNV |
Uncertain significance |
291837 |
rs886045063 |
1:113455449-113455449 |
1:112912827-112912827 |
41 |
SLC16A1 |
NM_003051.3(SLC16A1):c.*1051G>A |
SNV |
Uncertain significance |
291838 |
rs886045064 |
1:113455462-113455462 |
1:112912840-112912840 |
42 |
SLC16A1 |
NM_003051.3(SLC16A1):c.*948G>A |
SNV |
Uncertain significance |
291841 |
rs543171131 |
1:113455565-113455565 |
1:112912943-112912943 |
43 |
SLC16A1 |
NM_003051.3(SLC16A1):c.1342T>C (p.Leu448=) |
SNV |
Uncertain significance |
291854 |
rs773196238 |
1:113456674-113456674 |
1:112914052-112914052 |
44 |
SLC16A1 |
NM_003051.3(SLC16A1):c.-163T>C |
SNV |
Uncertain significance |
291913 |
rs886045088 |
1:113498775-113498775 |
1:112956153-112956153 |
45 |
SLC16A1 |
NM_003051.3(SLC16A1):c.-248G>T |
SNV |
Uncertain significance |
291917 |
rs762453730 |
1:113498860-113498860 |
1:112956238-112956238 |
46 |
SLC16A1 |
NM_003051.3(SLC16A1):c.-249C>T |
SNV |
Uncertain significance |
291918 |
rs60953496 |
1:113498861-113498861 |
1:112956239-112956239 |
47 |
SLC16A1 |
NM_003051.3(SLC16A1):c.*1312G>C |
SNV |
Uncertain significance |
291832 |
rs886045059 |
1:113455201-113455201 |
1:112912579-112912579 |
48 |
SLC16A1 |
NM_003051.3(SLC16A1):c.*1072G>T |
SNV |
Uncertain significance |
291836 |
rs886045062 |
1:113455441-113455441 |
1:112912819-112912819 |
49 |
SLC16A1 |
NM_003051.3(SLC16A1):c.*1018T>G |
SNV |
Uncertain significance |
291839 |
rs774371594 |
1:113455495-113455495 |
1:112912873-112912873 |
50 |
SLC16A1 |
NM_003051.3(SLC16A1):c.*629C>T |
SNV |
Uncertain significance |
291844 |
rs540946001 |
1:113455884-113455884 |
1:112913262-112913262 |