1 |
RHO |
NM_000539.3(RHO):c.491C>T (p.Ala164Val) |
SNV |
Pathogenic
|
417867 |
rs104893793 |
GRCh37: 3:129249848-129249848 GRCh38: 3:129531005-129531005 |
2 |
RHO |
NM_000539.3(RHO):c.269G>A (p.Gly90Asp) |
SNV |
Pathogenic
|
13045 |
rs104893790 |
GRCh37: 3:129247845-129247845 GRCh38: 3:129529002-129529002 |
3 |
RHO |
NM_000539.3(RHO):c.875C>A (p.Ala292Glu) |
SNV |
Pathogenic
|
13044 |
rs104893789 |
GRCh37: 3:129251554-129251554 GRCh38: 3:129532711-129532711 |
4 |
RHO |
NM_000539.3(RHO):c.68C>A (p.Pro23His) |
SNV |
Pathogenic
|
13013 |
rs104893768 |
GRCh37: 3:129247644-129247644 GRCh38: 3:129528801-129528801 |
5 |
RHO |
NM_000539.3(RHO):c.647T>A (p.Met216Lys) |
SNV |
Likely Pathogenic
|
865880 |
rs984572250 |
GRCh37: 3:129251210-129251210 GRCh38: 3:129532367-129532367 |
6 |
RHO |
NM_000539.3(RHO):c.328T>C (p.Cys110Arg) |
SNV |
Likely Pathogenic
|
867081 |
rs1578278438 |
GRCh37: 3:129247904-129247904 GRCh38: 3:129529061-129529061 |
7 |
RHO |
NM_000539.3(RHO):c.281C>T (p.Thr94Ile) |
SNV |
Likely Pathogenic
|
13054 |
rs104893796 |
GRCh37: 3:129247857-129247857 GRCh38: 3:129529014-129529014 |
8 |
RHO |
NM_000539.3(RHO):c.362G>T (p.Gly121Val) |
SNV |
Likely Pathogenic
|
984781 |
rs2084774644 |
GRCh37: 3:129249719-129249719 GRCh38: 3:129530876-129530876 |
9 |
RHO |
NM_000539.3(RHO):c.806C>A (p.Ala269Asp) |
SNV |
Uncertain Significance
|
984767 |
rs2084789658 |
GRCh37: 3:129251485-129251485 GRCh38: 3:129532642-129532642 |
10 |
RHO |
NM_000539.3(RHO):c.*551G>A |
SNV |
Uncertain Significance
|
903111 |
rs933661466 |
GRCh37: 3:129253112-129253112 GRCh38: 3:129534269-129534269 |
11 |
RHO |
NM_000539.3(RHO):c.*542G>A |
SNV |
Uncertain Significance
|
903110 |
rs369408405 |
GRCh37: 3:129253103-129253103 GRCh38: 3:129534260-129534260 |
12 |
RHO |
NM_000539.3(RHO):c.*26C>T |
SNV |
Uncertain Significance
|
903052 |
rs773347364 |
GRCh37: 3:129252587-129252587 GRCh38: 3:129533744-129533744 |
13 |
RHO |
NM_000539.3(RHO):c.*406G>C |
SNV |
Uncertain Significance
|
902235 |
rs2084804479 |
GRCh37: 3:129252967-129252967 GRCh38: 3:129534124-129534124 |
14 |
RHO |
NM_000539.3(RHO):c.*285G>A |
SNV |
Uncertain Significance
|
900553 |
rs1487459358 |
GRCh37: 3:129252846-129252846 GRCh38: 3:129534003-129534003 |
15 |
RHO |
NM_000539.3(RHO):c.732G>A (p.Gln244=) |
SNV |
Uncertain Significance
|
900511 |
rs148222991 |
GRCh37: 3:129251411-129251411 GRCh38: 3:129532568-129532568 |
16 |
RHO |
NM_000539.3(RHO):c.847T>C (p.Phe283Leu) |
SNV |
Uncertain Significance
|
902169 |
rs2084790979 |
GRCh37: 3:129251526-129251526 GRCh38: 3:129532683-129532683 |
17 |
RHO |
NM_000539.3(RHO):c.440G>A (p.Arg147His) |
SNV |
Uncertain Significance
|
902118 |
rs746468201 |
GRCh37: 3:129249797-129249797 GRCh38: 3:129530954-129530954 |
18 |
RHO |
NM_000539.3(RHO):c.*1454G>A |
SNV |
Uncertain Significance
|
900699 |
rs2084812090 |
GRCh37: 3:129254015-129254015 GRCh38: 3:129535172-129535172 |
19 |
RHO |
NM_000539.3(RHO):c.*1294A>G |
SNV |
Uncertain Significance
|
900698 |
rs1047324551 |
GRCh37: 3:129253855-129253855 GRCh38: 3:129535012-129535012 |
20 |
RHO |
NM_000539.3(RHO):c.*815G>T |
SNV |
Uncertain Significance
|
900623 |
rs2084807511 |
GRCh37: 3:129253376-129253376 GRCh38: 3:129534533-129534533 |
21 |
RHO |
NM_000539.3(RHO):c.*679A>G |
SNV |
Uncertain Significance
|
899491 |
rs1359424642 |
GRCh37: 3:129253240-129253240 GRCh38: 3:129534397-129534397 |
22 |
RHO |
NM_000539.3(RHO):c.754C>T (p.Arg252Cys) |
SNV |
Uncertain Significance
|
900513 |
rs752805805 |
GRCh37: 3:129251433-129251433 GRCh38: 3:129532590-129532590 |
23 |
RHO |
NM_000539.3(RHO):c.205C>T (p.Arg69Cys) |
SNV |
Uncertain Significance
|
900453 |
rs761101263 |
GRCh37: 3:129247781-129247781 GRCh38: 3:129528938-129528938 |
24 |
RHO |
NM_000539.3(RHO):c.87C>T (p.Tyr29=) |
SNV |
Uncertain Significance
|
900393 |
rs149084537 |
GRCh37: 3:129247663-129247663 GRCh38: 3:129528820-129528820 |
25 |
RHO |
NM_000539.3(RHO):c.-24G>T |
SNV |
Uncertain Significance
|
900391 |
rs771188148 |
GRCh37: 3:129247553-129247553 GRCh38: 3:129528710-129528710 |
26 |
RHO |
NM_000539.3(RHO):c.*1179T>C |
SNV |
Uncertain Significance
|
899557 |
rs569761830 |
GRCh37: 3:129253740-129253740 GRCh38: 3:129534897-129534897 |
27 |
RHO |
NM_000539.3(RHO):c.*670A>C |
SNV |
Uncertain Significance
|
899490 |
rs2084806843 |
GRCh37: 3:129253231-129253231 GRCh38: 3:129534388-129534388 |
28 |
RHO |
NM_000539.3(RHO):c.*573C>T |
SNV |
Uncertain Significance
|
899489 |
rs2084806235 |
GRCh37: 3:129253134-129253134 GRCh38: 3:129534291-129534291 |
29 |
RHO |
NM_000539.3(RHO):c.704C>A (p.Ala235Asp) |
SNV |
Uncertain Significance
|
899390 |
rs1390478420 |
GRCh37: 3:129251383-129251383 GRCh38: 3:129532540-129532540 |
30 |
RHO |
NM_000539.3(RHO):c.*440C>G |
SNV |
Uncertain Significance
|
343293 |
rs886057971 |
GRCh37: 3:129253001-129253001 GRCh38: 3:129534158-129534158 |
31 |
RHO |
NM_000539.3(RHO):c.*276C>T |
SNV |
Uncertain Significance
|
343291 |
rs759322778 |
GRCh37: 3:129252837-129252837 GRCh38: 3:129533994-129533994 |
32 |
RHO |
NM_000539.3(RHO):c.*887G>C |
SNV |
Uncertain Significance
|
343301 |
rs886057975 |
GRCh37: 3:129253448-129253448 GRCh38: 3:129534605-129534605 |
33 |
RHO |
NM_000539.3(RHO):c.*1255T>C |
SNV |
Uncertain Significance
|
343309 |
rs774496991 |
GRCh37: 3:129253816-129253816 GRCh38: 3:129534973-129534973 |
34 |
RHO |
NM_000539.3(RHO):c.48G>A (p.Ala16=) |
SNV |
Uncertain Significance
|
343273 |
rs766112074 |
GRCh37: 3:129247624-129247624 GRCh38: 3:129528781-129528781 |
35 |
RHO |
NM_000539.3(RHO):c.614T>G (p.Ile205Ser) |
SNV |
Uncertain Significance
|
343279 |
rs886057967 |
GRCh37: 3:129251177-129251177 GRCh38: 3:129532334-129532334 |
36 |
RHO |
NM_000539.3(RHO):c.*224C>T |
SNV |
Uncertain Significance
|
343289 |
rs886057970 |
GRCh37: 3:129252785-129252785 GRCh38: 3:129533942-129533942 |
37 |
RHO |
NM_000539.3(RHO):c.399C>A (p.Ile133=) |
SNV |
Uncertain Significance
Not Provided
|
902117 |
rs372812523 |
GRCh37: 3:129249756-129249756 GRCh38: 3:129530913-129530913 |
38 |
RHO |
NM_000539.3(RHO):c.696+12G>A |
SNV |
Uncertain Significance
|
343281 |
rs55915536 |
GRCh37: 3:129251271-129251271 GRCh38: 3:129532428-129532428 |
39 |
RHO |
NM_000539.3(RHO):c.630C>T (p.Val210=) |
SNV |
Uncertain Significance
|
899388 |
rs371192803 |
GRCh37: 3:129251193-129251193 GRCh38: 3:129532350-129532350 |
40 |
RHO |
NM_000539.3(RHO):c.697-11G>A |
SNV |
Uncertain Significance
|
899389 |
rs367631575 |
GRCh37: 3:129251365-129251365 GRCh38: 3:129532522-129532522 |
41 |
RHO |
NM_000539.3(RHO):c.962T>A (p.Ile321Asn) |
SNV |
Uncertain Significance
|
861995 |
rs1316267671 |
GRCh37: 3:129252476-129252476 GRCh38: 3:129533633-129533633 |
42 |
RHO |
NM_000539.3(RHO):c.*1144C>T |
SNV |
Uncertain Significance
|
343307 |
rs886057977 |
GRCh37: 3:129253705-129253705 GRCh38: 3:129534862-129534862 |
43 |
RHO |
NM_000539.3(RHO):c.*633G>A |
SNV |
Uncertain Significance
|
343296 |
rs886057972 |
GRCh37: 3:129253194-129253194 GRCh38: 3:129534351-129534351 |
44 |
RHO |
NM_000539.3(RHO):c.*1455T>C |
SNV |
Uncertain Significance
|
343310 |
rs552362456 |
GRCh37: 3:129254016-129254016 GRCh38: 3:129535173-129535173 |
45 |
RHO |
NM_000539.3(RHO):c.*40C>T |
SNV |
Uncertain Significance
|
343284 |
rs886057968 |
GRCh37: 3:129252601-129252601 GRCh38: 3:129533758-129533758 |
46 |
RHO |
NM_000539.3(RHO):c.*1599G>A |
SNV |
Uncertain Significance
|
343311 |
rs576980794 |
GRCh37: 3:129254160-129254160 GRCh38: 3:129535317-129535317 |
47 |
RHO |
NM_000539.3(RHO):c.*970C>T |
SNV |
Uncertain Significance
|
343305 |
rs886057976 |
GRCh37: 3:129253531-129253531 GRCh38: 3:129534688-129534688 |
48 |
RHO |
NM_000539.3(RHO):c.*115G>A |
SNV |
Uncertain Significance
|
343285 |
rs886057969 |
GRCh37: 3:129252676-129252676 GRCh38: 3:129533833-129533833 |
49 |
RHO |
NM_000539.3(RHO):c.*741T>C |
SNV |
Uncertain Significance
|
343299 |
rs753496233 |
GRCh37: 3:129253302-129253302 GRCh38: 3:129534459-129534459 |
50 |
RHO |
NM_000539.3(RHO):c.*838A>T |
SNV |
Uncertain Significance
|
343300 |
rs886057974 |
GRCh37: 3:129253399-129253399 GRCh38: 3:129534556-129534556 |