1 |
RD3 |
NM_001164688.2(RD3):c.137_138del (p.Glu46fs) |
DEL |
Pathogenic
|
189793 |
rs786205149 |
GRCh37: 1:211654620-211654621 GRCh38: 1:211481278-211481279 |
2 |
RD3 |
NM_001164688.2(RD3):c.136G>T (p.Glu46Ter) |
SNV |
Pathogenic
|
189794 |
rs786205150 |
GRCh37: 1:211654622-211654622 GRCh38: 1:211481280-211481280 |
3 |
RD3 |
NM_001164688.2(RD3):c.13_14del (p.Ser5fs) |
MICROSAT |
Pathogenic
|
1458859 |
|
GRCh37: 1:211654744-211654745 GRCh38: 1:211481402-211481403 |
4 |
RD3 |
NM_001164688.2(RD3):c.296+1G>A |
SNV |
Pathogenic
|
13121 |
rs386834260 |
GRCh37: 1:211654461-211654461 GRCh38: 1:211481119-211481119 |
5 |
RD3 |
NM_001164688.2(RD3):c.112C>T (p.Arg38Ter) |
SNV |
Pathogenic
|
189792 |
rs786205148 |
GRCh37: 1:211654646-211654646 GRCh38: 1:211481304-211481304 |
6 |
RD3 |
NM_001164688.2(RD3):c.180C>A (p.Tyr60Ter) |
SNV |
Pathogenic
|
189791 |
rs762631020 |
GRCh37: 1:211654578-211654578 GRCh38: 1:211481236-211481236 |
7 |
RD3 |
NM_001164688.2(RD3):c.296+1G>T |
SNV |
Pathogenic
|
1388540 |
|
GRCh37: 1:211654461-211654461 GRCh38: 1:211481119-211481119 |
8 |
RD3 |
NM_001164688.2(RD3):c.494A>C (p.Asp165Ala) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
767424 |
rs149051185 |
GRCh37: 1:211652472-211652472 GRCh38: 1:211479130-211479130 |
9 |
RD3 |
NM_001164688.2(RD3):c.139C>T (p.Arg47Cys) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
167572 |
rs34049451 |
GRCh37: 1:211654619-211654619 GRCh38: 1:211481277-211481277 |
10 |
RD3 |
NM_001164688.2(RD3):c.102G>A (p.Thr34=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
733845 |
rs199511076 |
GRCh37: 1:211654656-211654656 GRCh38: 1:211481314-211481314 |
11 |
RD3 |
NM_001164688.2(RD3):c.519G>A (p.Val173=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
772783 |
rs139419737 |
GRCh37: 1:211652447-211652447 GRCh38: 1:211479105-211479105 |
12 |
RD3 |
NM_001164688.2(RD3):c.283C>T (p.Pro95Ser) |
SNV |
Uncertain Significance
|
838670 |
rs759162527 |
GRCh37: 1:211654475-211654475 GRCh38: 1:211481133-211481133 |
13 |
RD3 |
NM_001164688.2(RD3):c.386T>A (p.Met129Lys) |
SNV |
Uncertain Significance
|
842065 |
rs1401610655 |
GRCh37: 1:211652580-211652580 GRCh38: 1:211479238-211479238 |
14 |
RD3 |
NM_001164688.2(RD3):c.473G>T (p.Arg158Leu) |
SNV |
Uncertain Significance
|
858743 |
rs748059354 |
GRCh37: 1:211652493-211652493 GRCh38: 1:211479151-211479151 |
15 |
RD3 |
NM_001164688.2(RD3):c.365T>G (p.Leu122Arg) |
SNV |
Uncertain Significance
|
1353278 |
|
GRCh37: 1:211652601-211652601 GRCh38: 1:211479259-211479259 |
16 |
RD3 |
NM_001164688.2(RD3):c.23G>A (p.Arg8Gln) |
SNV |
Uncertain Significance
|
1394609 |
|
GRCh37: 1:211654735-211654735 GRCh38: 1:211481393-211481393 |
17 |
RD3 |
NM_001164688.2(RD3):c.170G>T (p.Gly57Val) |
SNV |
Uncertain Significance
|
1403723 |
|
GRCh37: 1:211654588-211654588 GRCh38: 1:211481246-211481246 |
18 |
RD3 |
NM_001164688.2(RD3):c.545G>T (p.Arg182Leu) |
SNV |
Uncertain Significance
|
1425041 |
|
GRCh37: 1:211652421-211652421 GRCh38: 1:211479079-211479079 |
19 |
RD3 |
NM_001164688.2(RD3):c.2T>C (p.Met1Thr) |
SNV |
Uncertain Significance
|
1438092 |
|
GRCh37: 1:211654756-211654756 GRCh38: 1:211481414-211481414 |
20 |
RD3 |
NM_183059.2(RD3):c.-925G>A |
SNV |
Uncertain Significance
|
295300 |
rs182459299 |
GRCh37: 1:211666020-211666020 GRCh38: 1:211492678-211492678 |
21 |
RD3 |
NM_183059.2(RD3):c.-1118A>T |
SNV |
Uncertain Significance
|
295303 |
rs748107586 |
GRCh37: 1:211666213-211666213 GRCh38: 1:211492871-211492871 |
22 |
RD3 |
NM_183059.2(RD3):c.-712G>C |
SNV |
Uncertain Significance
|
295297 |
rs886045919 |
GRCh37: 1:211665807-211665807 GRCh38: 1:211492465-211492465 |
23 |
RD3 |
NM_183059.2(RD3):c.-505C>T |
SNV |
Uncertain Significance
|
295292 |
rs570507460 |
GRCh37: 1:211665600-211665600 GRCh38: 1:211492258-211492258 |
24 |
RD3 |
NM_183059.2(RD3):c.-572G>A |
SNV |
Uncertain Significance
|
295295 |
rs139370470 |
GRCh37: 1:211665667-211665667 GRCh38: 1:211492325-211492325 |
25 |
RD3 |
NM_183059.2(RD3):c.-714G>C |
SNV |
Uncertain Significance
|
295298 |
rs561881146 |
GRCh37: 1:211665809-211665809 GRCh38: 1:211492467-211492467 |
26 |
RD3 |
NM_183059.2(RD3):c.-1034G>A |
SNV |
Uncertain Significance
|
295301 |
rs146780723 |
GRCh37: 1:211666129-211666129 GRCh38: 1:211492787-211492787 |
27 |
RD3 |
NM_183059.2(RD3):c.-1120G>A |
SNV |
Uncertain Significance
|
295304 |
rs886045920 |
GRCh37: 1:211666215-211666215 GRCh38: 1:211492873-211492873 |
28 |
RD3 |
NM_183059.2(RD3):c.-495T>G |
SNV |
Uncertain Significance
|
295290 |
rs147349161 |
GRCh37: 1:211665590-211665590 GRCh38: 1:211492248-211492248 |
29 |
RD3 |
NM_183059.2(RD3):c.-539G>T |
SNV |
Uncertain Significance
|
295293 |
rs143497175 |
GRCh37: 1:211665634-211665634 GRCh38: 1:211492292-211492292 |
30 |
RD3 |
NM_183059.2(RD3):c.-640G>A |
SNV |
Uncertain Significance
|
295296 |
rs190249862 |
GRCh37: 1:211665735-211665735 GRCh38: 1:211492393-211492393 |
31 |
RD3 |
NM_183059.2(RD3):c.-884C>A |
SNV |
Uncertain Significance
|
295299 |
rs781387518 |
GRCh37: 1:211665979-211665979 GRCh38: 1:211492637-211492637 |
32 |
RD3 |
NM_183059.2(RD3):c.-1052C>A |
SNV |
Uncertain Significance
|
295302 |
rs187461760 |
GRCh37: 1:211666147-211666147 GRCh38: 1:211492805-211492805 |
33 |
RD3 |
NM_001164688.2(RD3):c.61C>T (p.Pro21Ser) |
SNV |
Uncertain Significance
|
1356076 |
|
GRCh37: 1:211654697-211654697 GRCh38: 1:211481355-211481355 |
34 |
RD3 |
NM_001164688.2(RD3):c.206C>T (p.Ser69Phe) |
SNV |
Uncertain Significance
|
1370807 |
|
GRCh37: 1:211654552-211654552 GRCh38: 1:211481210-211481210 |
35 |
RD3 |
NM_001164688.2(RD3):c.446G>T (p.Ser149Ile) |
SNV |
Uncertain Significance
|
1381527 |
|
GRCh37: 1:211652520-211652520 GRCh38: 1:211479178-211479178 |
36 |
RD3 |
NM_001164688.2(RD3):c.169G>T (p.Gly57Cys) |
SNV |
Uncertain Significance
|
1438168 |
|
GRCh37: 1:211654589-211654589 GRCh38: 1:211481247-211481247 |
37 |
RD3 |
NM_001164688.2(RD3):c.577A>G (p.Lys193Glu) |
SNV |
Uncertain Significance
|
1367419 |
|
GRCh37: 1:211652389-211652389 GRCh38: 1:211479047-211479047 |
38 |
RD3 |
NM_001164688.2(RD3):c.169G>A (p.Gly57Ser) |
SNV |
Uncertain Significance
|
1430354 |
|
GRCh37: 1:211654589-211654589 GRCh38: 1:211481247-211481247 |
39 |
RD3 |
NM_001164688.2(RD3):c.160G>T (p.Val54Phe) |
SNV |
Uncertain Significance
|
1492382 |
|
GRCh37: 1:211654598-211654598 GRCh38: 1:211481256-211481256 |
40 |
RD3 |
NM_001164688.2(RD3):c.148G>A (p.Ala50Thr) |
SNV |
Uncertain Significance
|
1506094 |
|
GRCh37: 1:211654610-211654610 GRCh38: 1:211481268-211481268 |
41 |
RD3 |
NM_001164688.2(RD3):c.61C>G (p.Pro21Ala) |
SNV |
Uncertain Significance
|
1351389 |
|
GRCh37: 1:211654697-211654697 GRCh38: 1:211481355-211481355 |
42 |
RD3 |
NM_001164688.2(RD3):c.587G>C (p.Ter196Ser) |
SNV |
Uncertain Significance
|
1501944 |
|
GRCh37: 1:211652379-211652379 GRCh38: 1:211479037-211479037 |
43 |
RD3 |
NM_183059.2(RD3):c.-504G>A |
SNV |
Uncertain Significance
|
295291 |
rs886045918 |
GRCh37: 1:211665599-211665599 GRCh38: 1:211492257-211492257 |
44 |
RD3 |
NM_183059.2(RD3):c.-556G>A |
SNV |
Uncertain Significance
|
295294 |
rs181065744 |
GRCh37: 1:211665651-211665651 GRCh38: 1:211492309-211492309 |
45 |
RD3 |
NM_001164688.2(RD3):c.404C>T (p.Ala135Val) |
SNV |
Uncertain Significance
|
1434987 |
|
GRCh37: 1:211652562-211652562 GRCh38: 1:211479220-211479220 |
46 |
RD3 |
NM_001164688.2(RD3):c.559C>G (p.Pro187Ala) |
SNV |
Uncertain Significance
|
1406305 |
|
GRCh37: 1:211652407-211652407 GRCh38: 1:211479065-211479065 |
47 |
RD3 |
NM_001164688.2(RD3):c.368A>T (p.Gln123Leu) |
SNV |
Uncertain Significance
|
1002125 |
rs764736043 |
GRCh37: 1:211652598-211652598 GRCh38: 1:211479256-211479256 |
48 |
RD3 |
NM_001164688.2(RD3):c.94G>C (p.Glu32Gln) |
SNV |
Uncertain Significance
|
844426 |
rs368003568 |
GRCh37: 1:211654664-211654664 GRCh38: 1:211481322-211481322 |
49 |
RD3 |
NM_001164688.2(RD3):c.202C>T (p.Arg68Trp) |
SNV |
Uncertain Significance
|
466320 |
rs144697496 |
GRCh37: 1:211654556-211654556 GRCh38: 1:211481214-211481214 |
50 |
RD3 |
NM_001164688.2(RD3):c.149C>A (p.Ala50Glu) |
SNV |
Uncertain Significance
|
1516779 |
|
GRCh37: 1:211654609-211654609 GRCh38: 1:211481267-211481267 |