1 |
SLC37A4 |
NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter) |
SNV |
Pathogenic
|
6934 |
rs121908979 |
GRCh37: 11:118895667-118895667 GRCh38: 11:119024957-119024957 |
2 |
SLC37A4 |
NM_001164277.2(SLC37A4):c.148+1G>A |
SNV |
Pathogenic
|
6932 |
|
GRCh37: 11:118899931-118899931 GRCh38: 11:119029221-119029221 |
3 |
SLC37A4 |
NM_001164277.2(SLC37A4):c.287G>A (p.Trp96Ter) |
SNV |
Pathogenic
|
6928 |
rs121908976 |
GRCh37: 11:118898998-118898998 GRCh38: 11:119028288-119028288 |
4 |
SLC37A4 |
NM_001164277.2(SLC37A4):c.1124+3_1124+6del |
DEL |
Pathogenic
|
1301338 |
|
GRCh37: 11:118895895-118895898 GRCh38: 11:119025185-119025188 |
5 |
SLC37A4 |
NM_001164277.2(SLC37A4):c.923_934dup (p.Met308_Met311dup) |
DUP |
Pathogenic
|
188799 |
rs786204477 |
GRCh37: 11:118896726-118896727 GRCh38: 11:119026016-119026017 |
6 |
SLC37A4 |
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs) |
DEL |
Pathogenic
Pathogenic
|
6926 |
rs80356491 |
GRCh37: 11:118895981-118895982 GRCh38: 11:119025271-119025272 |
7 |
SLC37A4 |
NM_001164277.2(SLC37A4):c.963_964del (p.Val322fs) |
DEL |
Likely Pathogenic
|
800776 |
rs1592109970 |
GRCh37: 11:118896697-118896698 GRCh38: 11:119025987-119025988 |
8 |
SLC37A4 |
NM_001164277.2(SLC37A4):c.496C>T (p.Arg166Cys) |
SNV |
Uncertain Significance
|
827988 |
rs11552539 |
GRCh37: 11:118898468-118898468 GRCh38: 11:119027758-119027758 |
9 |
SLC37A4 |
NM_001164277.2(SLC37A4):c.711T>G (p.Phe237Leu) |
SNV |
Uncertain Significance
|
1209841 |
|
GRCh37: 11:118897720-118897720 GRCh38: 11:119027010-119027010 |
10 |
SLC37A4 |
NM_001164277.2(SLC37A4):c.1004G>A (p.Gly335Glu) |
SNV |
Uncertain Significance
|
663384 |
rs1326123837 |
GRCh37: 11:118896020-118896020 GRCh38: 11:119025310-119025310 |
11 |
SLC37A4 |
NM_001164277.2(SLC37A4):c.467C>T (p.Ala156Val) |
SNV |
Uncertain Significance
|
215177 |
rs201036248 |
GRCh37: 11:118898497-118898497 GRCh38: 11:119027787-119027787 |
12 |
SLC37A4 |
NM_001164277.2(SLC37A4):c.497G>A (p.Arg166His) |
SNV |
Uncertain Significance
|
215178 |
rs186476316 |
GRCh37: 11:118898467-118898467 GRCh38: 11:119027757-119027757 |
13 |
SLC37A4 |
NM_001164277.2(SLC37A4):c.556C>T (p.Leu186Phe) |
SNV |
Uncertain Significance
|
595016 |
rs538938823 |
GRCh37: 11:118898407-118898407 GRCh38: 11:119027697-119027697 |
14 |
SLC37A4 |
NM_001164277.2(SLC37A4):c.943A>G (p.Met315Val) |
SNV |
Uncertain Significance
|
1038940 |
rs782475284 |
GRCh37: 11:118896718-118896718 GRCh38: 11:119026008-119026008 |
15 |
SLC37A4 |
NM_001164277.2(SLC37A4):c.1275C>T (p.Ser425=) |
SNV |
Benign
|
139193 |
rs35010541 |
GRCh37: 11:118895635-118895635 GRCh38: 11:119024925-119024925 |
16 |
SLC37A4 |
NM_001164277.2(SLC37A4):c.1224G>A (p.Thr408=) |
SNV |
Benign
|
139192 |
rs8192696 |
GRCh37: 11:118895686-118895686 GRCh38: 11:119024976-119024976 |
17 |
SLC37A4 |
NM_001164277.2(SLC37A4):c.1062C>T (p.Asn354=) |
SNV |
Benign
|
139191 |
rs61730035 |
GRCh37: 11:118895962-118895962 GRCh38: 11:119025252-119025252 |
18 |
SLC37A4 |
NM_001164277.2(SLC37A4):c.626+19C>T |
SNV |
Benign
|
139190 |
rs741811 |
GRCh37: 11:118898319-118898319 GRCh38: 11:119027609-119027609 |
19 |
SLC37A4 |
NM_001164277.2(SLC37A4):c.626+14C>T |
SNV |
Benign
|
139189 |
rs56394886 |
GRCh37: 11:118898324-118898324 GRCh38: 11:119027614-119027614 |
20 |
SLC37A4 |
NM_001164277.2(SLC37A4):c.149-14A>G |
SNV |
Benign
|
139186 |
rs79849261 |
GRCh37: 11:118899150-118899150 GRCh38: 11:119028440-119028440 |