1 |
SCN4B |
NM_174934.4(SCN4B):c.535C>T (p.Leu179Phe) |
SNV |
Pathogenic
|
2459 |
rs121434386 |
GRCh37: 11:118011980-118011980 GRCh38: 11:118141265-118141265 |
2 |
SCN4B |
NM_174934.4(SCN4B):c.485T>G (p.Val162Gly) |
SNV |
Pathogenic
|
140600 |
rs587777559 |
GRCh37: 11:118012030-118012030 GRCh38: 11:118141315-118141315 |
3 |
SCN4B |
NM_174934.4(SCN4B):c.496A>C (p.Ile166Leu) |
SNV |
Pathogenic
|
140601 |
rs587777560 |
GRCh37: 11:118012019-118012019 GRCh38: 11:118141304-118141304 |
4 |
SCN4B |
NM_174934.4(SCN4B):c.353T>C (p.Leu118Pro) |
SNV |
Uncertain Significance
|
841169 |
rs755758222 |
GRCh37: 11:118014658-118014658 GRCh38: 11:118143943-118143943 |
5 |
SCN4B |
NM_174934.4(SCN4B):c.112G>A (p.Ala38Thr) |
SNV |
Uncertain Significance
|
855114 |
rs777894412 |
GRCh37: 11:118015894-118015894 GRCh38: 11:118145179-118145179 |
6 |
SCN4B |
NM_174934.4(SCN4B):c.520A>G (p.Ile174Val) |
SNV |
Uncertain Significance
|
574219 |
rs377730779 |
GRCh37: 11:118011995-118011995 GRCh38: 11:118141280-118141280 |
7 |
SCN4B |
NM_174934.4(SCN4B):c.115A>G (p.Thr39Ala) |
SNV |
Uncertain Significance
|
519285 |
rs756210130 |
GRCh37: 11:118015891-118015891 GRCh38: 11:118145176-118145176 |
8 |
SCN4B |
NM_174934.4(SCN4B):c.40T>G (p.Trp14Gly) |
SNV |
Uncertain Significance
|
663765 |
rs946169910 |
GRCh37: 11:118023349-118023349 GRCh38: 11:118152634-118152634 |
9 |
SCN4B |
NM_174934.4(SCN4B):c.18C>A (p.Asp6Glu) |
SNV |
Uncertain Significance
|
190889 |
rs149979176 |
GRCh37: 11:118023371-118023371 GRCh38: 11:118152656-118152656 |
10 |
SCN4B |
NM_174934.4(SCN4B):c.632C>G (p.Thr211Arg) |
SNV |
Uncertain Significance
|
190895 |
rs201454653 |
GRCh37: 11:118007797-118007797 GRCh38: 11:118137082-118137082 |
11 |
SCN4B |
NM_174934.4(SCN4B):c.235-18A>G |
SNV |
Uncertain Significance
|
190893 |
rs758764353 |
GRCh37: 11:118014794-118014794 GRCh38: 11:118144079-118144079 |
12 |
SCN4B |
NM_174934.4(SCN4B):c.272C>A (p.Pro91His) |
SNV |
Uncertain Significance
|
1403433 |
|
GRCh37: 11:118014739-118014739 GRCh38: 11:118144024-118144024 |
13 |
SCN4B |
NM_174934.4(SCN4B):c.233T>G (p.Ile78Ser) |
SNV |
Uncertain Significance
|
1462958 |
|
GRCh37: 11:118015773-118015773 GRCh38: 11:118145058-118145058 |
14 |
SCN4B |
NM_174934.4(SCN4B):c.103G>A (p.Val35Met) |
SNV |
Uncertain Significance
|
1465710 |
|
GRCh37: 11:118015903-118015903 GRCh38: 11:118145188-118145188 |
15 |
SCN4B |
NM_174934.4(SCN4B):c.171C>A (p.Ser57Arg) |
SNV |
Uncertain Significance
|
1504160 |
|
GRCh37: 11:118015835-118015835 GRCh38: 11:118145120-118145120 |
16 |
SCN4B |
NM_174934.4(SCN4B):c.658G>A (p.Ala220Thr) |
SNV |
Uncertain Significance
|
1524046 |
|
GRCh37: 11:118007771-118007771 GRCh38: 11:118137056-118137056 |
17 |
SCN4B |
NM_174934.4(SCN4B):c.298C>T (p.Arg100Cys) |
SNV |
Uncertain Significance
|
637988 |
rs149497652 |
GRCh37: 11:118014713-118014713 GRCh38: 11:118143998-118143998 |
18 |
SCN4B |
NM_174934.4(SCN4B):c.89_94delinsAGCGACACCCTGT (p.Ser30_Glu32delinsTer) |
INDEL |
Uncertain Significance
|
856814 |
rs1948156091 |
GRCh37: 11:118015912-118015917 GRCh38: 11:118145197-118145202 |
19 |
SCN4B |
NM_174934.4(SCN4B):c.61+1144T>A |
SNV |
Uncertain Significance
|
1341769 |
|
GRCh37: 11:118022184-118022184 GRCh38: 11:118151469-118151469 |
20 |
SCN4B |
NM_174934.4(SCN4B):c.632C>T (p.Thr211Met) |
SNV |
Uncertain Significance
|
1214344 |
|
GRCh37: 11:118007797-118007797 GRCh38: 11:118137082-118137082 |
21 |
SCN4B |
NM_174934.4(SCN4B):c.464-11G>A |
SNV |
Uncertain Significance
|
1387437 |
|
GRCh37: 11:118012062-118012062 GRCh38: 11:118141347-118141347 |
22 |
SCN4B |
NM_174934.4(SCN4B):c.234+1G>A |
SNV |
Uncertain Significance
|
1414065 |
|
GRCh37: 11:118015771-118015771 GRCh38: 11:118145056-118145056 |
23 |
SCN4B |
NM_174934.4(SCN4B):c.346del (p.Ile116fs) |
DEL |
Uncertain Significance
|
1363895 |
|
GRCh37: 11:118014665-118014665 GRCh38: 11:118143950-118143950 |
24 |
overlap with 38 genes |
NC_000011.9:g.(?_118007722)_(119170511_?)del |
DEL |
Uncertain Significance
|
659604 |
|
GRCh37: 11:118007722-119170511 GRCh38: |
25 |
SCN4B |
NM_174934.4(SCN4B):c.62-1G>A |
SNV |
Uncertain Significance
|
1040559 |
rs950065814 |
GRCh37: 11:118015945-118015945 GRCh38: 11:118145230-118145230 |
26 |
SCN4B |
NM_174934.4(SCN4B):c.613T>C (p.Ser205Pro) |
SNV |
Uncertain Significance
|
560693 |
rs761183228 |
GRCh37: 11:118007816-118007816 GRCh38: 11:118137101-118137101 |
27 |
SCN4B |
NM_174934.4(SCN4B):c.299G>A (p.Arg100His) |
SNV |
Uncertain Significance
|
649165 |
rs779514077 |
GRCh37: 11:118014712-118014712 GRCh38: 11:118143997-118143997 |
28 |
SCN4B |
NM_174934.4(SCN4B):c.200G>T (p.Arg67Leu) |
SNV |
Uncertain Significance
|
1058880 |
|
GRCh37: 11:118015806-118015806 GRCh38: 11:118145091-118145091 |
29 |
SCN4B |
NM_174934.4(SCN4B):c.239T>C (p.Ile80Thr) |
SNV |
Uncertain Significance
|
242024 |
rs546190140 |
GRCh37: 11:118014772-118014772 GRCh38: 11:118144057-118144057 |
30 |
SCN4B |
NM_174934.4(SCN4B):c.596A>G (p.Lys199Arg) |
SNV |
Uncertain Significance
|
403961 |
rs758628437 |
GRCh37: 11:118007833-118007833 GRCh38: 11:118137118-118137118 |
31 |
SCN4B |
NM_174934.4(SCN4B):c.544C>G (p.Leu182Val) |
SNV |
Uncertain Significance
|
403962 |
rs771565684 |
GRCh37: 11:118011971-118011971 GRCh38: 11:118141256-118141256 |
32 |
SCN4B |
NM_174934.4(SCN4B):c.376A>G (p.Thr126Ala) |
SNV |
Uncertain Significance
|
537383 |
rs1555097541 |
GRCh37: 11:118014635-118014635 GRCh38: 11:118143920-118143920 |
33 |
SCN4B |
NM_174934.4(SCN4B):c.568A>C (p.Ile190Leu) |
SNV |
Uncertain Significance
|
537384 |
rs757147726 |
GRCh37: 11:118011947-118011947 GRCh38: 11:118141232-118141232 |
34 |
SCN4B |
NM_174934.4(SCN4B):c.61+1G>A |
SNV |
Uncertain Significance
|
692252 |
rs377558816 |
GRCh37: 11:118023327-118023327 GRCh38: 11:118152612-118152612 |
35 |
SCN4B |
NM_174934.4(SCN4B):c.100T>C (p.Ser34Pro) |
SNV |
Uncertain Significance
|
943405 |
rs1948155711 |
GRCh37: 11:118015906-118015906 GRCh38: 11:118145191-118145191 |
36 |
SCN4B |
NM_174934.4(SCN4B):c.359A>G (p.Asp120Gly) |
SNV |
Uncertain Significance
|
945872 |
rs1948133901 |
GRCh37: 11:118014652-118014652 GRCh38: 11:118143937-118143937 |
37 |
SCN4B |
NM_174934.4(SCN4B):c.531CATCCT[1] (p.178IL[1]) |
MICROSAT |
Uncertain Significance
|
948418 |
rs1447414158 |
GRCh37: 11:118011973-118011978 GRCh38: 11:118141258-118141263 |
38 |
SCN4B |
NM_174934.4(SCN4B):c.299G>C (p.Arg100Pro) |
SNV |
Uncertain Significance
|
960482 |
rs779514077 |
GRCh37: 11:118014712-118014712 GRCh38: 11:118143997-118143997 |
39 |
SCN4B |
NM_174934.4(SCN4B):c.373G>A (p.Asp125Asn) |
SNV |
Uncertain Significance
|
961525 |
rs1353607051 |
GRCh37: 11:118014638-118014638 GRCh38: 11:118143923-118143923 |
40 |
SCN4B |
NM_174934.4(SCN4B):c.286A>G (p.Lys96Glu) |
SNV |
Uncertain Significance
|
970001 |
rs1246344139 |
GRCh37: 11:118014725-118014725 GRCh38: 11:118144010-118144010 |
41 |
SCN4B |
NM_174934.4(SCN4B):c.475G>C (p.Asp159His) |
SNV |
Uncertain Significance
|
1037322 |
rs1565455142 |
GRCh37: 11:118012040-118012040 GRCh38: 11:118141325-118141325 |
42 |
SCN4B |
NM_174934.4(SCN4B):c.599A>G (p.Glu200Gly) |
SNV |
Uncertain Significance
|
1040302 |
rs750707860 |
GRCh37: 11:118007830-118007830 GRCh38: 11:118137115-118137115 |
43 |
SCN4B |
NM_174934.4(SCN4B):c.266C>G (p.Ser89Cys) |
SNV |
Uncertain Significance
|
1057377 |
|
GRCh37: 11:118014745-118014745 GRCh38: 11:118144030-118144030 |
44 |
SCN4B |
NM_174934.4(SCN4B):c.198C>G (p.Phe66Leu) |
SNV |
Uncertain Significance
|
1059291 |
|
GRCh37: 11:118015808-118015808 GRCh38: 11:118145093-118145093 |
45 |
SCN4B |
NM_174934.4(SCN4B):c.281C>T (p.Thr94Met) |
SNV |
Uncertain Significance
|
190894 |
rs768926261 |
GRCh37: 11:118014730-118014730 GRCh38: 11:118144015-118144015 |
46 |
SCN4B |
NM_174934.4(SCN4B):c.594-2A>G |
SNV |
Uncertain Significance
|
264183 |
rs375535030 |
GRCh37: 11:118007837-118007837 GRCh38: 11:118137122-118137122 |
47 |
SCN4B |
NM_174934.4(SCN4B):c.469G>C (p.Glu157Gln) |
SNV |
Uncertain Significance
|
1397893 |
|
GRCh37: 11:118012046-118012046 GRCh38: 11:118141331-118141331 |
48 |
SCN4B |
NM_174934.4(SCN4B):c.463C>T (p.Leu155=) |
SNV |
Uncertain Significance
|
1365345 |
|
GRCh37: 11:118014548-118014548 GRCh38: 11:118143833-118143833 |
49 |
SCN4B |
NM_174934.4(SCN4B):c.513C>T (p.Gly171=) |
SNV |
Uncertain Significance
|
1439146 |
|
GRCh37: 11:118012002-118012002 GRCh38: 11:118141287-118141287 |
50 |
SCN4B |
NM_174934.4(SCN4B):c.259G>A (p.Glu87Lys) |
SNV |
Uncertain Significance
|
1484623 |
|
GRCh37: 11:118014752-118014752 GRCh38: 11:118144037-118144037 |