1 |
PRPH2 |
NM_000322.5(PRPH2):c.828+3A>T |
SNV |
Pathogenic
|
98713 |
rs281865373 |
GRCh37: 6:42672100-42672100 GRCh38: 6:42704362-42704362 |
2 |
EFEMP1 |
NM_001039348.3(EFEMP1):c.1033C>T (p.Arg345Trp) |
SNV |
Likely Pathogenic
|
8072 |
rs121434491 |
GRCh37: 2:56098226-56098226 GRCh38: 2:55871091-55871091 |
3 |
EFEMP1 |
NM_001039348.2(EFEMP1):c.-494C>G |
SNV |
Uncertain Significance
|
336648 |
rs886056194 |
GRCh37: 2:56151291-56151291 GRCh38: 2:55924156-55924156 |
4 |
EFEMP1 |
NM_001039348.3(EFEMP1):c.*349A>T |
SNV |
Uncertain Significance
|
898223 |
rs1294065580 |
GRCh37: 2:56093859-56093859 GRCh38: 2:55866724-55866724 |
5 |
EFEMP1 |
NM_001039348.3(EFEMP1):c.1353C>T (p.Leu451=) |
SNV |
Uncertain Significance
|
899334 |
rs1399879099 |
GRCh37: 2:56094337-56094337 GRCh38: 2:55867202-55867202 |
6 |
EFEMP1 |
NM_001039348.3(EFEMP1):c.761-28TA[9] |
MICROSAT |
Uncertain Significance
|
336625 |
rs3838530 |
GRCh37: 2:56103891-56103892 GRCh38: 2:55876756-55876757 |
7 |
EFEMP1 |
NM_001039348.3(EFEMP1):c.1118C>T (p.Pro373Leu) |
SNV |
Uncertain Significance
|
849590 |
rs762143333 |
GRCh37: 2:56098141-56098141 GRCh38: 2:55871006-55871006 |
8 |
EFEMP1 |
NM_001039348.3(EFEMP1):c.1062T>C (p.His354=) |
SNV |
Uncertain Significance
|
895242 |
rs1208704909 |
GRCh37: 2:56098197-56098197 GRCh38: 2:55871062-55871062 |
9 |
EFEMP1 |
NM_001039348.2(EFEMP1):c.-269G>A |
SNV |
Uncertain Significance
|
336644 |
rs886056193 |
GRCh37: 2:56151066-56151066 GRCh38: 2:55923931-55923931 |
10 |
EFEMP1 |
NM_001039348.2(EFEMP1):c.-251G>C |
SNV |
Uncertain Significance
|
336642 |
rs886056192 |
GRCh37: 2:56151048-56151048 GRCh38: 2:55923913-55923913 |
11 |
EFEMP1 |
NM_001039348.3(EFEMP1):c.*146T>A |
SNV |
Uncertain Significance
|
336620 |
rs540522685 |
GRCh37: 2:56094062-56094062 GRCh38: 2:55866927-55866927 |
12 |
EFEMP1 |
NM_001039348.3(EFEMP1):c.*182G>C |
SNV |
Uncertain Significance
|
336617 |
rs755194729 |
GRCh37: 2:56094026-56094026 GRCh38: 2:55866891-55866891 |
13 |
EFEMP1 |
NM_001039348.3(EFEMP1):c.963C>T (p.Pro321=) |
SNV |
Uncertain Significance
|
336623 |
rs769842736 |
GRCh37: 2:56102118-56102118 GRCh38: 2:55874983-55874983 |
14 |
EFEMP1 |
NM_001039348.3(EFEMP1):c.*946T>C |
SNV |
Uncertain Significance
|
336610 |
rs886056189 |
GRCh37: 2:56093262-56093262 GRCh38: 2:55866127-55866127 |
15 |
EFEMP1 |
NM_001039348.3(EFEMP1):c.*152G>A |
SNV |
Uncertain Significance
|
336619 |
rs886056190 |
GRCh37: 2:56094056-56094056 GRCh38: 2:55866921-55866921 |
16 |
EFEMP1 |
NM_001039348.3(EFEMP1):c.1000+9del |
DEL |
Uncertain Significance
|
336622 |
rs886056191 |
GRCh37: 2:56102072-56102072 GRCh38: 2:55874937-55874937 |
17 |
EFEMP1 |
NM_001039348.3(EFEMP1):c.*1088A>C |
SNV |
Uncertain Significance
|
336605 |
rs886056188 |
GRCh37: 2:56093120-56093120 GRCh38: 2:55865985-55865985 |
18 |
EFEMP1 |
NM_001039348.3(EFEMP1):c.1120G>C (p.Glu374Gln) |
SNV |
Uncertain Significance
|
895241 |
rs774225644 |
GRCh37: 2:56098139-56098139 GRCh38: 2:55871004-55871004 |
19 |
EFEMP1 |
NM_001039348.3(EFEMP1):c.195T>C (p.Tyr65=) |
SNV |
Uncertain Significance
|
896672 |
rs142572513 |
GRCh37: 2:56145122-56145122 GRCh38: 2:55917987-55917987 |
20 |
EFEMP1 |
NM_001039348.3(EFEMP1):c.732A>G (p.Gln244=) |
SNV |
Likely Benign
|
336626 |
rs199622147 |
GRCh37: 2:56104909-56104909 GRCh38: 2:55877774-55877774 |
21 |
EFEMP1 |
NM_001039348.2(EFEMP1):c.-261C>A |
SNV |
Likely Benign
|
336643 |
rs561867060 |
GRCh37: 2:56151058-56151058 GRCh38: 2:55923923-55923923 |
22 |
EFEMP1 |
NM_001039348.2(EFEMP1):c.-136C>G |
SNV |
Likely Benign
|
336640 |
rs577899468 |
GRCh37: 2:56150933-56150933 GRCh38: 2:55923798-55923798 |
23 |
EFEMP1 |
NM_001039348.2(EFEMP1):c.-464C>T |
SNV |
Likely Benign
|
336647 |
rs72811724 |
GRCh37: 2:56151261-56151261 GRCh38: 2:55924126-55924126 |
24 |
EFEMP1 |
NM_001039348.3(EFEMP1):c.981G>A (p.Val327=) |
SNV |
Likely Benign
|
895243 |
rs770999988 |
GRCh37: 2:56102100-56102100 GRCh38: 2:55874965-55874965 |
25 |
EFEMP1 |
NM_001039348.3(EFEMP1):c.401G>A (p.Arg134Gln) |
SNV |
Likely Benign
|
896671 |
rs748310171 |
GRCh37: 2:56144916-56144916 GRCh38: 2:55917781-55917781 |
26 |
EFEMP1 |
NM_001039348.3(EFEMP1):c.1386C>T (p.Ile462=) |
SNV |
Likely Benign
|
899333 |
rs759287964 |
GRCh37: 2:56094304-56094304 GRCh38: 2:55867169-55867169 |
27 |
EFEMP1 |
NM_001039348.3(EFEMP1):c.134T>C (p.Ile45Thr) |
SNV |
Likely Benign
|
336632 |
rs746396165 |
GRCh37: 2:56145183-56145183 GRCh38: 2:55918048-55918048 |
28 |
EFEMP1 |
NM_001039348.3(EFEMP1):c.387A>G (p.Glu129=) |
SNV |
Benign
|
93482 |
rs14282 |
GRCh37: 2:56144930-56144930 GRCh38: 2:55917795-55917795 |
29 |
EFEMP1 |
NM_001039348.3(EFEMP1):c.518-11G>A |
SNV |
Benign
|
336628 |
rs73940333 |
GRCh37: 2:56108880-56108880 GRCh38: 2:55881745-55881745 |
30 |
EFEMP1 |
NM_001039348.3(EFEMP1):c.1160G>A (p.Arg387Gln) |
SNV |
Benign
|
336621 |
rs146446706 |
GRCh37: 2:56098015-56098015 GRCh38: 2:55870880-55870880 |
31 |
EFEMP1 |
NM_001039348.3(EFEMP1):c.146A>C (p.Asp49Ala) |
SNV |
Benign
|
283832 |
rs55849640 |
GRCh37: 2:56145171-56145171 GRCh38: 2:55918036-55918036 |
32 |
EFEMP1 |
NM_001039348.2(EFEMP1):c.-368G>C |
SNV |
Benign
|
336645 |
rs111619737 |
GRCh37: 2:56151165-56151165 GRCh38: 2:55924030-55924030 |
33 |
EFEMP1 |
NM_001039348.3(EFEMP1):c.81+20G>C |
SNV |
Benign
|
1168191 |
|
GRCh37: 2:56149475-56149475 GRCh38: 2:55922340-55922340 |
34 |
EFEMP1 |
NM_001039348.3(EFEMP1):c.1000+19del |
DEL |
Benign
|
1168267 |
|
GRCh37: 2:56102062-56102062 GRCh38: 2:55874927-55874927 |
35 |
EFEMP1 |
NM_001039348.2(EFEMP1):c.-460C>A |
SNV |
Benign
|
336646 |
rs79563212 |
GRCh37: 2:56151257-56151257 GRCh38: 2:55924122-55924122 |
36 |
EFEMP1 |
NM_001039348.2(EFEMP1):c.-196C>T |
SNV |
Benign
|
336641 |
rs3762514 |
GRCh37: 2:56150993-56150993 GRCh38: 2:55923858-55923858 |
37 |
EFEMP1 |
NM_001039348.3(EFEMP1):c.246A>G (p.Glu82=) |
SNV |
Benign
|
336630 |
rs35447389 |
GRCh37: 2:56145071-56145071 GRCh38: 2:55917936-55917936 |
38 |
EFEMP1 |
NM_001039348.3(EFEMP1):c.518-13A>G |
SNV |
Benign
|
167031 |
rs3748959 |
GRCh37: 2:56108882-56108882 GRCh38: 2:55881747-55881747 |
39 |
EFEMP1 |
NM_001039348.3(EFEMP1):c.1001-14C>T |
SNV |
Benign
|
257227 |
rs45535043 |
GRCh37: 2:56098272-56098272 GRCh38: 2:55871137-55871137 |
40 |
EFEMP1 |
NM_001039348.3(EFEMP1):c.761-28TA[8] |
MICROSAT |
Benign
|
336624 |
rs3838530 |
GRCh37: 2:56103891-56103892 GRCh38: 2:55876756-55876757 |
41 |
EFEMP1 |
NM_001039348.3(EFEMP1):c.640+6T>C |
SNV |
Benign
|
336627 |
rs192467647 |
GRCh37: 2:56108741-56108741 GRCh38: 2:55881606-55881606 |
42 |
EFEMP1 |
NM_001039348.3(EFEMP1):c.489C>T (p.Tyr163=) |
SNV |
Benign
|
336629 |
rs761107410 |
GRCh37: 2:56144828-56144828 GRCh38: 2:55917693-55917693 |
43 |
EFEMP1 |
NM_001039348.3(EFEMP1):c.207C>A (p.Leu69=) |
SNV |
Benign
|
336631 |
rs12292 |
GRCh37: 2:56145110-56145110 GRCh38: 2:55917975-55917975 |
44 |
EFEMP1 |
NM_001039348.3(EFEMP1):c.1413C>T (p.Ser471=) |
SNV |
Benign
|
194014 |
rs374690853 |
GRCh37: 2:56094277-56094277 GRCh38: 2:55867142-55867142 |
45 |
EFEMP1 |
NM_001039348.3(EFEMP1):c.*507C>T |
SNV |
Benign
|
898222 |
rs188698134 |
GRCh37: 2:56093701-56093701 GRCh38: 2:55866566-55866566 |
46 |
EFEMP1 |
NM_001039348.3(EFEMP1):c.-105C>T |
SNV |
Benign
|
336639 |
rs558071999 |
GRCh37: 2:56150902-56150902 GRCh38: 2:55923767-55923767 |
47 |
EFEMP1 |
NM_001039348.3(EFEMP1):c.-64C>T |
SNV |
Benign
|
336636 |
rs3762516 |
GRCh37: 2:56150861-56150861 GRCh38: 2:55923726-55923726 |
48 |
EFEMP1 |
NM_001039348.3(EFEMP1):c.*248A>C |
SNV |
Benign
|
336616 |
rs117386259 |
GRCh37: 2:56093960-56093960 GRCh38: 2:55866825-55866825 |
49 |
EFEMP1 |
NM_001039348.3(EFEMP1):c.*1026C>T |
SNV |
Benign
|
336607 |
rs540075808 |
GRCh37: 2:56093182-56093182 GRCh38: 2:55866047-55866047 |
50 |
EFEMP1 |
NM_001039348.3(EFEMP1):c.*687T>C |
SNV |
Benign
|
336613 |
rs138843899 |
GRCh37: 2:56093521-56093521 GRCh38: 2:55866386-55866386 |