1 |
CYP11B1 |
CYP11B1, CYP11B1/CYP11B2 ANTI-LEPORE-LIKE CHIMERA |
VAR |
Pathogenic
|
1172 |
|
GRCh37: GRCh38: |
2 |
LOC106799833, CYP11B1 |
NM_000497.4(CYP11B1):c.956C>T (p.Thr319Met) |
SNV |
Pathogenic
|
1178 |
rs104894068 |
GRCh37: 8:143957293-143957293 GRCh38: 8:142875877-142875877 |
3 |
LOC106799833, CYP11B1 |
NM_000497.4(CYP11B1):c.799G>A (p.Gly267Ser) |
SNV |
Pathogenic
|
1685685 |
|
GRCh37: 8:143958098-143958098 GRCh38: 8:142876682-142876682 |
4 |
LOC106799833, CYP11B1 |
NM_000497.4(CYP11B1):c.1066C>T (p.Gln356Ter) |
SNV |
Pathogenic
|
56830 |
rs146124466 |
GRCh37: 8:143957183-143957183 GRCh38: 8:142875767-142875767 |
5 |
LOC106799833, CYP11B1 |
NM_000497.4(CYP11B1):c.890C>T (p.Ala297Val) |
SNV |
Likely Pathogenic
|
1179123 |
|
GRCh37: 8:143957721-143957721 GRCh38: 8:142876305-142876305 |
6 |
LOC106799833, CYP11B1 |
NM_000497.4(CYP11B1):c.1151G>A (p.Arg384Gln) |
SNV |
Likely Pathogenic
|
552238 |
rs764598023 |
GRCh37: 8:143956699-143956699 GRCh38: 8:142875283-142875283 |
7 |
LOC106799833, CYP11B1 |
NM_000497.4(CYP11B1):c.1343G>A (p.Arg448His) |
SNV |
Likely Pathogenic
|
1171 |
rs28934586 |
GRCh37: 8:143956428-143956428 GRCh38: 8:142875012-142875012 |
8 |
LOC106799833, CYP11B1 |
NM_000497.4(CYP11B1):c.1205T>C (p.Leu402Ser) |
SNV |
Uncertain Significance
|
362148 |
rs886062738 |
GRCh37: 8:143956566-143956566 GRCh38: 8:142875150-142875150 |
9 |
CYP11B1 |
NM_000497.4(CYP11B1):c.*670A>C |
SNV |
Uncertain Significance
|
362131 |
rs879537131 |
GRCh37: 8:143955119-143955119 GRCh38: 8:142873703-142873703 |
10 |
LOC106799833, CYP11B1 |
NM_000497.4(CYP11B1):c.912C>G (p.Ile304Met) |
SNV |
Uncertain Significance
|
912228 |
rs751843934 |
GRCh37: 8:143957699-143957699 GRCh38: 8:142876283-142876283 |
11 |
LOC106799833, CYP11B1 |
NM_000497.4(CYP11B1):c.541C>T (p.Arg181Trp) |
SNV |
Uncertain Significance
|
912289 |
rs373856010 |
GRCh37: 8:143958493-143958493 GRCh38: 8:142877077-142877077 |
12 |
LOC106799833, CYP11B1 |
NM_000497.4(CYP11B1):c.413G>A (p.Arg138His) |
SNV |
Uncertain Significance
|
35989 |
rs193922540 |
GRCh37: 8:143958621-143958621 GRCh38: 8:142877205-142877205 |
13 |
LOC106799833, CYP11B1 |
NM_000497.4(CYP11B1):c.1399-14G>A |
SNV |
Uncertain Significance
|
931327 |
rs5295 |
GRCh37: 8:143955916-143955916 GRCh38: 8:142874500-142874500 |
14 |
LOC106799833, CYP11B1 |
NM_000497.4(CYP11B1):c.766C>T (p.His256Tyr) |
SNV |
Uncertain Significance
|
932068 |
rs1816963218 |
GRCh37: 8:143958131-143958131 GRCh38: 8:142876715-142876715 |
15 |
LOC106799834, CYP11B2 |
NM_000498.3(CYP11B2):c.*504C>T |
SNV |
Uncertain Significance
|
362185 |
rs201487778 |
GRCh37: 8:143992892-143992892 GRCh38: 8:142911476-142911476 |
16 |
LOC106799833, CYP11B1 |
NM_000497.4(CYP11B1):c.748C>T (p.Pro250Ser) |
SNV |
Uncertain Significance
|
362161 |
rs753471858 |
GRCh37: 8:143958149-143958149 GRCh38: 8:142876733-142876733 |
17 |
CYP11B1 |
NM_000497.4(CYP11B1):c.*737C>T |
SNV |
Uncertain Significance
|
362128 |
rs748684062 |
GRCh37: 8:143955052-143955052 GRCh38: 8:142873636-142873636 |
18 |
LOC106799833, CYP11B1 |
NM_000497.4(CYP11B1):c.632T>C (p.Leu211Pro) |
SNV |
Uncertain Significance
|
910172 |
rs368125568 |
GRCh37: 8:143958265-143958265 GRCh38: 8:142876849-142876849 |
19 |
CYP11B1 |
NM_000497.4(CYP11B1):c.334A>C (p.Ser112Arg) |
SNV |
Uncertain Significance
|
910243 |
rs770400476 |
GRCh37: 8:143960509-143960509 GRCh38: 8:142879093-142879093 |
20 |
CYP11B1 |
NM_000497.4(CYP11B1):c.263T>C (p.Met88Thr) |
SNV |
Uncertain Significance
|
910244 |
rs1817062027 |
GRCh37: 8:143960580-143960580 GRCh38: 8:142879164-142879164 |
21 |
LOC106799834, CYP11B2 |
NM_000498.3(CYP11B2):c.*298C>A |
SNV |
Uncertain Significance
|
909344 |
rs1380755213 |
GRCh37: 8:143993098-143993098 GRCh38: 8:142911682-142911682 |
22 |
LOC106799834, CYP11B2 |
NM_000498.3(CYP11B2):c.*205G>A |
SNV |
Uncertain Significance
|
910310 |
rs1296538192 |
GRCh37: 8:143993191-143993191 GRCh38: 8:142911775-142911775 |
23 |
LOC106799834, CYP11B2 |
NM_000498.3(CYP11B2):c.1216T>G (p.Phe406Val) |
SNV |
Uncertain Significance
|
910372 |
rs1817560561 |
GRCh37: 8:143994128-143994128 GRCh38: 8:142912712-142912712 |
24 |
LOC106799834, CYP11B2 |
NM_000498.3(CYP11B2):c.1201-9C>G |
SNV |
Uncertain Significance
|
910373 |
rs750931398 |
GRCh37: 8:143994152-143994152 GRCh38: 8:142912736-142912736 |
25 |
LOC106799834, CYP11B2 |
NM_000498.3(CYP11B2):c.449C>T (p.Ser150Leu) |
SNV |
Uncertain Significance
|
910598 |
rs768685630 |
GRCh37: 8:143996608-143996608 GRCh38: 8:142915192-142915192 |
26 |
CYP11B1 |
NM_000497.4(CYP11B1):c.*1623G>C |
SNV |
Uncertain Significance
|
910703 |
rs997960869 |
GRCh37: 8:143954166-143954166 GRCh38: 8:142872750-142872750 |
27 |
CYP11B1 |
NM_000497.4(CYP11B1):c.*1313C>T |
SNV |
Uncertain Significance
|
910763 |
rs973876982 |
GRCh37: 8:143954476-143954476 GRCh38: 8:142873060-142873060 |
28 |
CYP11B1 |
NM_000497.4(CYP11B1):c.*1296A>G |
SNV |
Uncertain Significance
|
910764 |
rs1816841780 |
GRCh37: 8:143954493-143954493 GRCh38: 8:142873077-142873077 |
29 |
CYP11B1 |
NM_000497.4(CYP11B1):c.*1264A>C |
SNV |
Uncertain Significance
|
910765 |
rs547356106 |
GRCh37: 8:143954525-143954525 GRCh38: 8:142873109-142873109 |
30 |
LOC106799833, CYP11B1 |
NM_000497.4(CYP11B1):c.957G>A (p.Thr319=) |
SNV |
Uncertain Significance
|
910996 |
rs762599130 |
GRCh37: 8:143957292-143957292 GRCh38: 8:142875876-142875876 |
31 |
LOC106799833, CYP11B1 |
NM_000497.4(CYP11B1):c.595+14G>A |
SNV |
Uncertain Significance
|
911052 |
rs1208266252 |
GRCh37: 8:143958425-143958425 GRCh38: 8:142877009-142877009 |
32 |
LOC106799834, CYP11B2 |
NM_000498.3(CYP11B2):c.*993A>G |
SNV |
Uncertain Significance
|
911201 |
rs61763989 |
GRCh37: 8:143992403-143992403 GRCh38: 8:142910987-142910987 |
33 |
LOC106799834, CYP11B2 |
NM_000498.3(CYP11B2):c.*613C>T |
SNV |
Uncertain Significance
|
911265 |
rs61757284 |
GRCh37: 8:143992783-143992783 GRCh38: 8:142911367-142911367 |
34 |
LOC106799834, CYP11B2 |
NM_000498.3(CYP11B2):c.*591T>G |
SNV |
Uncertain Significance
|
911266 |
rs1817531890 |
GRCh37: 8:143992805-143992805 GRCh38: 8:142911389-142911389 |
35 |
CYP11B1 |
NM_000497.4(CYP11B1):c.218A>G (p.Gln73Arg) |
SNV |
Uncertain Significance
|
911339 |
rs371662064 |
GRCh37: 8:143961012-143961012 GRCh38: 8:142879596-142879596 |
36 |
CYP11B1 |
NM_000497.4(CYP11B1):c.206A>G (p.His69Arg) |
SNV |
Uncertain Significance
|
911340 |
rs747287245 |
GRCh37: 8:143961024-143961024 GRCh38: 8:142879608-142879608 |
37 |
LOC106799834, CYP11B2 |
NM_000498.3(CYP11B2):c.*879G>A |
SNV |
Uncertain Significance
|
911396 |
rs375657023 |
GRCh37: 8:143992517-143992517 GRCh38: 8:142911101-142911101 |
38 |
LOC106799834, CYP11B2 |
NM_000498.3(CYP11B2):c.*876C>A |
SNV |
Uncertain Significance
|
911397 |
rs1817525452 |
GRCh37: 8:143992520-143992520 GRCh38: 8:142911104-142911104 |
39 |
LOC106799834, CYP11B2 |
NM_000498.3(CYP11B2):c.*25A>C |
SNV |
Uncertain Significance
|
911520 |
rs1817542488 |
GRCh37: 8:143993371-143993371 GRCh38: 8:142911955-142911955 |
40 |
LOC106799834, CYP11B2 |
NM_000498.3(CYP11B2):c.845G>A (p.Arg282His) |
SNV |
Uncertain Significance
|
911712 |
rs769533897 |
GRCh37: 8:143995789-143995789 GRCh38: 8:142914373-142914373 |
41 |
LOC106799834, CYP11B2 |
NM_000498.3(CYP11B2):c.591A>G (p.Ile197Met) |
SNV |
Uncertain Significance
|
362218 |
rs886062744 |
GRCh37: 8:143996466-143996466 GRCh38: 8:142915050-142915050 |
42 |
LOC106799834, CYP11B2 |
NM_000498.3(CYP11B2):c.*746G>A |
SNV |
Uncertain Significance
|
362177 |
rs570202161 |
GRCh37: 8:143992650-143992650 GRCh38: 8:142911234-142911234 |
43 |
CYP11B1 |
NM_000497.4(CYP11B1):c.*1550C>T |
SNV |
Uncertain Significance
|
911927 |
rs1425377435 |
GRCh37: 8:143954239-143954239 GRCh38: 8:142872823-142872823 |
44 |
CYP11B1 |
NM_000497.4(CYP11B1):c.*1253G>T |
SNV |
Uncertain Significance
|
911986 |
rs1816842907 |
GRCh37: 8:143954536-143954536 GRCh38: 8:142873120-142873120 |
45 |
CYP11B1 |
NM_000497.4(CYP11B1):c.*390A>G |
SNV |
Uncertain Significance
|
912092 |
rs558749828 |
GRCh37: 8:143955399-143955399 GRCh38: 8:142873983-142873983 |
46 |
CYP11B1 |
NM_000497.4(CYP11B1):c.*901G>A |
SNV |
Uncertain Significance
|
362124 |
rs748103274 |
GRCh37: 8:143954888-143954888 GRCh38: 8:142873472-142873472 |
47 |
LOC106799834, CYP11B2 |
NM_000498.3(CYP11B2):c.*743C>T |
SNV |
Uncertain Significance
|
362179 |
rs886062741 |
GRCh37: 8:143992653-143992653 GRCh38: 8:142911237-142911237 |
48 |
CYP11B1 |
NM_000497.4(CYP11B1):c.*1590G>C |
SNV |
Uncertain Significance
|
362107 |
rs886062733 |
GRCh37: 8:143954199-143954199 GRCh38: 8:142872783-142872783 |
49 |
LOC106799834, CYP11B2 |
NM_000498.3(CYP11B2):c.*299G>A |
SNV |
Uncertain Significance
|
362187 |
rs528171695 |
GRCh37: 8:143993097-143993097 GRCh38: 8:142911681-142911681 |
50 |
CYP11B1 |
NM_000497.4(CYP11B1):c.*1622C>T |
SNV |
Uncertain Significance
|
362106 |
rs543935807 |
GRCh37: 8:143954167-143954167 GRCh38: 8:142872751-142872751 |