1 |
CRYAB |
NM_001289808.2(CRYAB):c.450del (p.Lys150fs) |
DEL |
Pathogenic
|
16954 |
rs1566402656 |
GRCh37: 11:111779566-111779566 GRCh38: 11:111908842-111908842 |
2 |
CRYAB |
NM_001289808.2(CRYAB):c.418G>A (p.Asp140Asn) |
SNV |
Pathogenic
|
41927 |
rs387907336 |
GRCh37: 11:111779598-111779598 GRCh38: 11:111908874-111908874 |
3 |
CRYAB |
NM_001289808.2(CRYAB):c.58C>T (p.Pro20Ser) |
SNV |
Pathogenic
|
41928 |
rs387907337 |
GRCh37: 11:111782391-111782391 GRCh38: 11:111911667-111911667 |
4 |
CRYAB |
NM_001289808.2(CRYAB):c.166C>T (p.Arg56Trp) |
SNV |
Pathogenic
|
41929 |
rs387907338 |
GRCh37: 11:111782283-111782283 GRCh38: 11:111911559-111911559 |
5 |
CRYAB |
NM_001289808.2(CRYAB):c.525del (p.Lys175fs) |
DEL |
Likely Pathogenic
|
1184448 |
|
GRCh37: 11:111779491-111779491 GRCh38: 11:111908767-111908767 |
6 |
COL12A1 |
NM_004370.6(COL12A1):c.5467G>A (p.Val1823Ile) |
SNV |
Likely Pathogenic
|
475877 |
rs201408175 |
GRCh37: 6:75844499-75844499 GRCh38: 6:75134783-75134783 |
7 |
CRYAB |
NM_001289808.2(CRYAB):c.148C>T (p.Arg50Trp) |
SNV |
Uncertain Significance
|
1486651 |
|
GRCh37: 11:111782301-111782301 GRCh38: 11:111911577-111911577 |
8 |
CRYAB |
NM_001289808.2(CRYAB):c.*60G>A |
SNV |
Uncertain Significance
|
877466 |
rs540926728 |
GRCh37: 11:111779428-111779428 GRCh38: 11:111908704-111908704 |
9 |
CRYAB |
NM_001289808.2(CRYAB):c.482T>C (p.Ile161Thr) |
SNV |
Uncertain Significance
|
810752 |
rs1592506005 |
GRCh37: 11:111779534-111779534 GRCh38: 11:111908810-111908810 |
10 |
CRYAB |
NM_001289808.2(CRYAB):c.176G>A (p.Ser59Asn) |
SNV |
Uncertain Significance
|
879070 |
rs1555165546 |
GRCh37: 11:111782273-111782273 GRCh38: 11:111911549-111911549 |
11 |
CRYAB |
NM_001289808.2(CRYAB):c.375A>C (p.Pro125=) |
SNV |
Uncertain Significance
|
302431 |
rs886047687 |
GRCh37: 11:111779641-111779641 GRCh38: 11:111908917-111908917 |
12 |
CRYAB |
NM_001289808.2(CRYAB):c.102G>T (p.Glu34Asp) |
SNV |
Uncertain Significance
|
302432 |
rs886047688 |
GRCh37: 11:111782347-111782347 GRCh38: 11:111911623-111911623 |
13 |
CRYAB |
NM_001289808.2(CRYAB):c.*107A>G |
SNV |
Uncertain Significance
|
302428 |
rs886047686 |
GRCh37: 11:111779381-111779381 GRCh38: 11:111908657-111908657 |
14 |
CRYAB |
NM_001289808.2(CRYAB):c.115C>G (p.Pro39Ala) |
SNV |
Uncertain Significance
|
571646 |
rs145768025 |
GRCh37: 11:111782334-111782334 GRCh38: 11:111911610-111911610 |
15 |
CRYAB |
NM_001289808.2(CRYAB):c.10G>A (p.Ala4Thr) |
SNV |
Uncertain Significance
|
931448 |
rs1264081192 |
GRCh37: 11:111782439-111782439 GRCh38: 11:111911715-111911715 |
16 |
CRYAB |
NM_001289808.2(CRYAB):c.-21C>T |
SNV |
Likely Benign
|
302433 |
rs376222434 |
GRCh37: 11:111782469-111782469 GRCh38: 11:111911745-111911745 |
17 |
CRYAB |
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) |
SNV |
Likely Benign
|
41926 |
rs150516929 |
GRCh37: 11:111779556-111779556 GRCh38: 11:111908832-111908832 |
18 |
CRYAB |
NM_001289808.2(CRYAB):c.60C>T (p.Pro20=) |
SNV |
Benign
|
44239 |
rs4252582 |
GRCh37: 11:111782389-111782389 GRCh38: 11:111911665-111911665 |
19 |
CRYAB |
NM_001289808.2(CRYAB):c.165G>A (p.Leu55=) |
SNV |
Benign
|
44233 |
rs2228387 |
GRCh37: 11:111782284-111782284 GRCh38: 11:111911560-111911560 |
20 |
CRYAB |
NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu) |
SNV |
Benign
|
44232 |
rs2234704 |
GRCh37: 11:111782297-111782297 GRCh38: 11:111911573-111911573 |
21 |
CRYAB |
NM_001289808.2(CRYAB):c.324+4T>G |
SNV |
Benign
|
44234 |
rs11603779 |
GRCh37: 11:111781047-111781047 GRCh38: 11:111910323-111910323 |
22 |
CRYAB |
NM_001289808.2(CRYAB):c.116C>T (p.Pro39Leu) |
SNV |
Benign
|
178013 |
rs149787233 |
GRCh37: 11:111782333-111782333 GRCh38: 11:111911609-111911609 |
23 |
CRYAB |
NM_001289808.2(CRYAB):c.*38G>C |
SNV |
Benign
|
302430 |
rs781853968 |
GRCh37: 11:111779450-111779450 GRCh38: 11:111908726-111908726 |