1 |
SCNN1G |
NM_001039.4(SCNN1G):c.1718G>A (p.Trp573Ter) |
SNV |
Pathogenic
|
8824 |
rs137853342 |
GRCh37: 16:23226558-23226558 GRCh38: 16:23215237-23215237 |
2 |
SCNN1G |
NM_001039.4(SCNN1G):c.1699C>T (p.Gln567*) |
SNV |
Pathogenic
|
561163 |
|
GRCh37: 16:23226539-23226539 GRCh38: 16:23215218-23215218 |
3 |
SCNN1G |
NM_001039.4(SCNN1G):c.1749_1753del (p.Glu583fs) |
DEL |
Pathogenic
|
565277 |
rs1567270184 |
GRCh37: 16:23226589-23226593 GRCh38: 16:23215268-23215272 |
4 |
SCNN1G |
NM_001039.4(SCNN1G):c.142dup (p.Arg48fs) |
DUP |
Likely Pathogenic
|
804476 |
rs1596760831 |
GRCh37: 16:23197731-23197732 GRCh38: 16:23186410-23186411 |
5 |
SCNN1G |
NM_001039.4(SCNN1G):c.*1287C>T |
SNV |
Uncertain Significance
|
884266 |
rs927733196 |
GRCh37: 16:23228077-23228077 GRCh38: 16:23216756-23216756 |
6 |
SCNN1G |
NM_001039.4(SCNN1G):c.589G>C (p.Glu197Gln) |
SNV |
Uncertain Significance
|
885190 |
rs5738 |
GRCh37: 16:23200963-23200963 GRCh38: 16:23189642-23189642 |
7 |
SCNN1G |
NM_001039.4(SCNN1G):c.1724G>C (p.Trp575Ser) |
SNV |
Uncertain Significance
|
885259 |
rs1960141342 |
GRCh37: 16:23226564-23226564 GRCh38: 16:23215243-23215243 |
8 |
SCNN1G |
NM_001039.4(SCNN1G):c.1841C>T (p.Ala614Val) |
SNV |
Uncertain Significance
|
885260 |
rs1474666302 |
GRCh37: 16:23226681-23226681 GRCh38: 16:23215360-23215360 |
9 |
SCNN1G |
NM_001039.4(SCNN1G):c.*591G>T |
SNV |
Uncertain Significance
|
885326 |
rs538477185 |
GRCh37: 16:23227381-23227381 GRCh38: 16:23216060-23216060 |
10 |
SCNN1G |
NM_001039.4(SCNN1G):c.48C>T (p.Pro16=) |
SNV |
Uncertain Significance
|
885119 |
rs1203780950 |
GRCh37: 16:23197640-23197640 GRCh38: 16:23186319-23186319 |
11 |
SCNN1G |
NM_001039.4(SCNN1G):c.940G>A (p.Glu314Lys) |
SNV |
Uncertain Significance
|
886092 |
rs147199706 |
GRCh37: 16:23208611-23208611 GRCh38: 16:23197290-23197290 |
12 |
SCNN1G |
NM_001039.4(SCNN1G):c.*99C>T |
SNV |
Uncertain Significance
|
886157 |
rs1418745552 |
GRCh37: 16:23226889-23226889 GRCh38: 16:23215568-23215568 |
13 |
SCNN1G |
NM_001039.4(SCNN1G):c.*789T>G |
SNV |
Uncertain Significance
|
886233 |
rs9923016 |
GRCh37: 16:23227579-23227579 GRCh38: 16:23216258-23216258 |
14 |
SCNN1G |
NM_001039.4(SCNN1G):c.*909C>T |
SNV |
Uncertain Significance
|
887236 |
rs1003477910 |
GRCh37: 16:23227699-23227699 GRCh38: 16:23216378-23216378 |
15 |
SCNN1G |
NM_001039.4(SCNN1G):c.1563C>T (p.Ala521=) |
SNV |
Uncertain Significance
|
888366 |
rs767735046 |
GRCh37: 16:23226102-23226102 GRCh38: 16:23214781-23214781 |
16 |
SCNN1G |
NM_001039.4(SCNN1G):c.*393T>C |
SNV |
Uncertain Significance
|
888427 |
rs943847843 |
GRCh37: 16:23227183-23227183 GRCh38: 16:23215862-23215862 |
17 |
SCNN1G |
NM_001039.4(SCNN1G):c.*1243C>T |
SNV |
Uncertain Significance
|
888488 |
rs527408442 |
GRCh37: 16:23228033-23228033 GRCh38: 16:23216712-23216712 |
18 |
SCNN1G |
NM_001039.4(SCNN1G):c.*1273C>T |
SNV |
Uncertain Significance
|
884265 |
rs1960163702 |
GRCh37: 16:23228063-23228063 GRCh38: 16:23216742-23216742 |
19 |
SCNN1G |
NM_001039.4(SCNN1G):c.1550T>C (p.Met517Thr) |
SNV |
Uncertain Significance
|
451433 |
rs144653364 |
GRCh37: 16:23226089-23226089 GRCh38: 16:23214768-23214768 |
20 |
SCNN1G |
NM_001039.4(SCNN1G):c.446G>C (p.Gly149Ala) |
SNV |
Uncertain Significance
|
318348 |
rs754747376 |
GRCh37: 16:23200820-23200820 GRCh38: 16:23189499-23189499 |
21 |
SCNN1G |
NM_001039.4(SCNN1G):c.1083G>A (p.Glu361=) |
SNV |
Uncertain Significance
|
318354 |
rs752432261 |
GRCh37: 16:23221076-23221076 GRCh38: 16:23209755-23209755 |
22 |
SCNN1G |
NM_001039.4(SCNN1G):c.663G>T (p.Ser221=) |
SNV |
Uncertain Significance
|
318352 |
rs886051800 |
GRCh37: 16:23203717-23203717 GRCh38: 16:23192396-23192396 |
23 |
SCNN1G |
NM_001039.4(SCNN1G):c.539G>A (p.Arg180Gln) |
SNV |
Uncertain Significance
|
318351 |
rs546893551 |
GRCh37: 16:23200913-23200913 GRCh38: 16:23189592-23189592 |
24 |
SCNN1G |
NM_001039.4(SCNN1G):c.*979T>C |
SNV |
Uncertain Significance
|
318376 |
rs540231207 |
GRCh37: 16:23227769-23227769 GRCh38: 16:23216448-23216448 |
25 |
SCNN1G |
NM_001039.4(SCNN1G):c.1187A>G (p.His396Arg) |
SNV |
Uncertain Significance
|
318355 |
rs202142122 |
GRCh37: 16:23223365-23223365 GRCh38: 16:23212044-23212044 |
26 |
SCNN1G |
NM_001039.4(SCNN1G):c.1378A>G (p.Lys460Glu) |
SNV |
Uncertain Significance
|
318356 |
rs886051801 |
GRCh37: 16:23224162-23224162 GRCh38: 16:23212841-23212841 |
27 |
SCNN1G |
NM_001039.4(SCNN1G):c.*584G>A |
SNV |
Uncertain Significance
|
318368 |
rs886051802 |
GRCh37: 16:23227374-23227374 GRCh38: 16:23216053-23216053 |
28 |
SCNN1G |
NM_001039.4(SCNN1G):c.399G>A (p.Glu133=) |
SNV |
Likely Benign
|
318346 |
rs200985912 |
GRCh37: 16:23200773-23200773 GRCh38: 16:23189452-23189452 |
29 |
SCNN1G |
NM_001039.4(SCNN1G):c.538C>T (p.Arg180Trp) |
SNV |
Likely Benign
|
318350 |
rs763601481 |
GRCh37: 16:23200912-23200912 GRCh38: 16:23189591-23189591 |
30 |
SCNN1G |
NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys) |
SNV |
Likely Benign
|
8829 |
rs5738 |
GRCh37: 16:23200963-23200963 GRCh38: 16:23189642-23189642 |
31 |
SCNN1G |
NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser) |
SNV |
Likely Benign
|
8828 |
rs5736 |
GRCh37: 16:23200921-23200921 GRCh38: 16:23189600-23189600 |
32 |
SCNN1G |
NM_001039.4(SCNN1G):c.1589A>G (p.Asn530Ser) |
SNV |
Likely Benign
|
318359 |
rs148985177 |
GRCh37: 16:23226429-23226429 GRCh38: 16:23215108-23215108 |
33 |
SCNN1G |
NM_001039.4(SCNN1G):c.132C>T (p.Ile44=) |
SNV |
Likely Benign
|
886034 |
rs774767092 |
GRCh37: 16:23197724-23197724 GRCh38: 16:23186403-23186403 |
34 |
SCNN1G |
NM_001039.4(SCNN1G):c.1827G>C (p.Leu609Phe) |
SNV |
Likely Benign
|
318360 |
rs745715995 |
GRCh37: 16:23226667-23226667 GRCh38: 16:23215346-23215346 |
35 |
SCNN1G |
NM_001039.4(SCNN1G):c.*659T>C |
SNV |
Benign
|
318371 |
rs9922851 |
GRCh37: 16:23227449-23227449 GRCh38: 16:23216128-23216128 |
36 |
SCNN1G |
NM_001039.4(SCNN1G):c.776C>A (p.Thr259Asn) |
SNV |
Benign
|
318353 |
rs72646501 |
GRCh37: 16:23203830-23203830 GRCh38: 16:23192509-23192509 |
37 |
SCNN1G |
NM_001039.4(SCNN1G):c.*1261G>A |
SNV |
Benign
|
318379 |
rs8043698 |
GRCh37: 16:23228051-23228051 GRCh38: 16:23216730-23216730 |
38 |
SCNN1G |
NM_001039.4(SCNN1G):c.*1370G>A |
SNV |
Benign
|
318381 |
rs72647550 |
GRCh37: 16:23228160-23228160 GRCh38: 16:23216839-23216839 |
39 |
SCNN1G |
NM_001039.4(SCNN1G):c.477G>A (p.Pro159=) |
SNV |
Benign
|
318349 |
rs145602271 |
GRCh37: 16:23200851-23200851 GRCh38: 16:23189530-23189530 |
40 |
SCNN1G |
NM_001039.4(SCNN1G):c.*491G>A |
SNV |
Benign
|
885325 |
rs146413363 |
GRCh37: 16:23227281-23227281 GRCh38: 16:23215960-23215960 |
41 |
SCNN1G |
NM_001039.4(SCNN1G):c.1861G>A (p.Gly621Ser) |
SNV |
Benign
|
886156 |
rs139012605 |
GRCh37: 16:23226701-23226701 GRCh38: 16:23215380-23215380 |
42 |
SCNN1G |
NM_001039.4(SCNN1G):c.1476A>G (p.Val492=) |
SNV |
Benign
|
808015 |
rs146420892 |
GRCh37: 16:23224467-23224467 GRCh38: 16:23213146-23213146 |
43 |
SCNN1G |
NM_001039.4(SCNN1G):c.*230C>T |
SNV |
Benign
|
887172 |
rs72647546 |
GRCh37: 16:23227020-23227020 GRCh38: 16:23215699-23215699 |
44 |
SCNN1G |
NM_001039.4(SCNN1G):c.*268G>A |
SNV |
Benign
|
318365 |
rs5727 |
GRCh37: 16:23227058-23227058 GRCh38: 16:23215737-23215737 |
45 |
SCNN1G |
NM_001039.4(SCNN1G):c.*790C>T |
SNV |
Benign
|
318375 |
rs9932505 |
GRCh37: 16:23227580-23227580 GRCh38: 16:23216259-23216259 |
46 |
SCNN1G |
NM_001039.4(SCNN1G):c.549C>T (p.Gly183=) |
SNV |
Benign
|
165174 |
rs5737 |
GRCh37: 16:23200923-23200923 GRCh38: 16:23189602-23189602 |
47 |
SCNN1G |
NM_001039.4(SCNN1G):c.1493+33T>G |
SNV |
Benign
|
1242641 |
|
GRCh37: 16:23224517-23224517 GRCh38: 16:23213196-23213196 |
48 |
SCNN1G |
NM_001039.4(SCNN1G):c.1373+29T>C |
SNV |
Benign
|
1245056 |
|
GRCh37: 16:23224106-23224106 GRCh38: 16:23212785-23212785 |
49 |
SCNN1G |
NM_001039.4(SCNN1G):c.1494-49A>G |
SNV |
Benign
|
1257202 |
|
GRCh37: 16:23225984-23225984 GRCh38: 16:23214663-23214663 |
50 |
SCNN1G |
NM_001039.4(SCNN1G):c.-23G>A |
SNV |
Benign
|
318345 |
rs762522517 |
GRCh37: 16:23197570-23197570 GRCh38: 16:23186249-23186249 |