1 |
USH2A |
NM_206933.3(USH2A):c.8167C>T (p.Arg2723Ter) |
SNV |
Pathogenic |
419282 |
rs200712760 |
1:216061824-216061824 |
1:215888482-215888482 |
2 |
USH2A |
NM_206933.3(USH2A):c.13576C>T (p.Arg4526Ter) |
SNV |
Pathogenic |
438014 |
rs1003869920 |
1:215847677-215847677 |
1:215674335-215674335 |
3 |
USH2A |
NM_206933.3(USH2A):c.12819T>A (p.Tyr4273Ter) |
SNV |
Pathogenic |
438008 |
rs1362058696 |
1:215848434-215848434 |
1:215675092-215675092 |
4 |
USH2A |
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile) |
SNV |
Pathogenic |
438002 |
rs780308389 |
1:216498735-216498735 |
1:216325393-216325393 |
5 |
USH2A |
NM_206933.3(USH2A):c.100C>T (p.Arg34Ter) |
SNV |
Pathogenic |
438000 |
rs772808534 |
1:216595579-216595579 |
1:216422237-216422237 |
6 |
USH2A |
NM_206933.3(USH2A):c.9571-2A>G |
SNV |
Pathogenic |
438033 |
rs751111524 |
1:215987248-215987248 |
1:215813906-215813906 |
7 |
USH2A |
NM_206933.3(USH2A):c.4222C>T (p.Gln1408Ter) |
SNV |
Pathogenic |
438021 |
rs746551311 |
1:216369924-216369924 |
1:216196582-216196582 |
8 |
USH2A |
NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter) |
SNV |
Pathogenic |
504513 |
rs199679165 |
1:216270538-216270538 |
1:216097196-216097196 |
9 |
USH2A |
NM_206933.3(USH2A):c.7524del (p.Arg2509fs) |
deletion |
Pathogenic |
517494 |
rs751176116 |
1:216073487-216073487 |
1:215900145-215900145 |
10 |
USH2A |
NM_206933.3(USH2A):c.10388-1G>C |
SNV |
Pathogenic |
522485 |
rs1553261478 |
1:215956278-215956278 |
1:215782936-215782936 |
11 |
USH2A |
NM_007123.5(USH2A):c.667dup (p.Ile223fs) |
duplication |
Pathogenic |
522527 |
rs1553253747 |
1:216538411-216538412 |
1:216365069-216365070 |
12 |
USH2A |
NM_206933.3(USH2A):c.13621C>T (p.Gln4541Ter) |
SNV |
Pathogenic |
555195 |
rs765476745 |
1:215847632-215847632 |
1:215674290-215674290 |
13 |
USH2A |
NM_206933.3(USH2A):c.13700del (p.Leu4567fs) |
deletion |
Pathogenic |
555701 |
rs1212608410 |
1:215847553-215847553 |
1:215674211-215674211 |
14 |
USH2A |
NM_206933.3(USH2A):c.10388-1G>A |
SNV |
Pathogenic |
557493 |
rs1553261478 |
1:215956278-215956278 |
1:215782936-215782936 |
15 |
USH2A |
NM_206933.3(USH2A):c.14977_14978del (p.Phe4993fs) |
deletion |
Pathogenic |
555201 |
rs747160949 |
1:215812571-215812572 |
1:215639229-215639230 |
16 |
USH2A |
NM_206933.3(USH2A):c.14131C>T (p.Gln4711Ter) |
SNV |
Pathogenic |
554236 |
rs747063294 |
1:215844316-215844316 |
1:215670974-215670974 |
17 |
USH2A |
NM_206933.3(USH2A):c.13822C>T (p.Arg4608Ter) |
SNV |
Pathogenic |
557745 |
rs367674026 |
1:215844625-215844625 |
1:215671283-215671283 |
18 |
USH2A |
NM_206933.3(USH2A):c.9270C>A (p.Cys3090Ter) |
SNV |
Pathogenic |
557177 |
rs779572631 |
1:216011434-216011434 |
1:215838092-215838092 |
19 |
USH2A |
NM_206933.3(USH2A):c.13207_13208del (p.Gly4403fs) |
deletion |
Pathogenic |
558124 |
rs746447649 |
1:215848045-215848046 |
1:215674703-215674704 |
20 |
USH2A |
NM_206933.3(USH2A):c.8079G>A (p.Trp2693Ter) |
SNV |
Pathogenic |
553648 |
rs1553273330 |
1:216061912-216061912 |
1:215888570-215888570 |
21 |
USH2A |
NM_206933.3(USH2A):c.5399G>A (p.Trp1800Ter) |
SNV |
Pathogenic |
556449 |
rs1553299079 |
1:216251604-216251604 |
1:216078262-216078262 |
22 |
USH2A |
NM_206933.3(USH2A):c.8834G>A (p.Trp2945Ter) |
SNV |
Pathogenic |
557801 |
rs760302201 |
1:216040360-216040360 |
1:215867018-215867018 |
23 |
USH2A |
NM_007123.5(USH2A):c.545_546del (p.Lys182fs) |
deletion |
Pathogenic |
556324 |
rs780779563 |
1:216591961-216591962 |
1:216418619-216418620 |
24 |
USH2A |
NM_206933.3(USH2A):c.9469C>T (p.Gln3157Ter) |
SNV |
Pathogenic |
555916 |
rs772100045 |
1:215990440-215990440 |
1:215817098-215817098 |
25 |
USH2A |
NM_206933.3(USH2A):c.3920C>G (p.Ser1307Ter) |
SNV |
Pathogenic |
553983 |
rs756623509 |
1:216371818-216371818 |
1:216198476-216198476 |
26 |
USH2A |
NM_206933.3(USH2A):c.3883C>T (p.Arg1295Ter) |
SNV |
Pathogenic |
556829 |
rs764797292 |
1:216371855-216371855 |
1:216198513-216198513 |
27 |
USH2A |
NM_206933.3(USH2A):c.2610C>A (p.Cys870Ter) |
SNV |
Pathogenic |
557167 |
rs767078782 |
1:216420126-216420126 |
1:216246784-216246784 |
28 |
USH2A |
NM_206933.3(USH2A):c.2797C>T (p.Gln933Ter) |
SNV |
Pathogenic |
553620 |
rs1394737087 |
1:216419939-216419939 |
1:216246597-216246597 |
29 |
USH2A |
NM_206933.3(USH2A):c.2168-1G>C |
SNV |
Pathogenic |
556842 |
rs748961218 |
1:216420569-216420569 |
1:216247227-216247227 |
30 |
USH2A |
NM_206933.2(USH2A):c.852_853delGA (p.Glu284Aspfs) |
short repeat |
Pathogenic |
553452 |
rs1188025733 |
1:216498937-216498938 |
1:216325595-216325596 |
31 |
USH2A |
NM_206933.3(USH2A):c.2023C>T (p.Gln675Ter) |
SNV |
Pathogenic |
553607 |
rs868562952 |
1:216424389-216424389 |
1:216251047-216251047 |
32 |
USH2A |
NM_206933.3(USH2A):c.236_239dup (p.Gln81fs) |
duplication |
Pathogenic |
552849 |
rs1553258097 |
1:216595439-216595440 |
1:216422097-216422098 |
33 |
USH2A |
NM_206933.3(USH2A):c.187C>T (p.Arg63Ter) |
SNV |
Pathogenic |
556744 |
rs781223647 |
1:216595492-216595492 |
1:216422150-216422150 |
34 |
USH2A |
NM_206933.2(USH2A):c.(4758+1_4759-1)_(5298+1_5299-1)del |
deletion |
Pathogenic |
565300 |
|
1:216251705-216270424 |
1:216078363-216097082 |
35 |
USH2A |
NM_206933.3(USH2A):c.8089G>T (p.Glu2697Ter) |
SNV |
Pathogenic |
620588 |
rs1558146243 |
1:216061902-216061902 |
1:215888560-215888560 |
36 |
USH2A |
NM_206933.3(USH2A):c.4334_4335CT[2] (p.Cys1447fs) |
short repeat |
Pathogenic |
2353 |
rs111033367 |
1:216363622-216363623 |
1:216190280-216190281 |
37 |
USH2A |
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) |
SNV |
Pathogenic |
2356 |
rs80338902 |
1:216420460-216420460 |
1:216247118-216247118 |
38 |
USH2A |
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) |
SNV |
Pathogenic |
2357 |
rs111033364 |
1:215901574-215901574 |
1:215728232-215728232 |
39 |
USH2A |
NM_206933.4(USH2A):c.949C>A (p.Arg317=) |
SNV |
Pathogenic |
2358 |
rs111033272 |
1:216498841-216498841 |
1:216325499-216325499 |
40 |
USH2A |
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) |
SNV |
Pathogenic |
2359 |
rs121912600 |
1:216497582-216497582 |
1:216324240-216324240 |
41 |
USH2A |
NM_206933.3(USH2A):c.240_241insGATC (p.Gln81fs) |
insertion |
Pathogenic |
2360 |
rs587776538 |
1:216595438-216595439 |
1:216422096-216422097 |
42 |
USH2A |
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter) |
SNV |
Pathogenic |
2361 |
rs111033334 |
1:216420527-216420527 |
1:216247185-216247185 |
43 |
USH2A |
NM_206933.4(USH2A):c.409dup (p.Ser137fs) |
duplication |
Pathogenic |
829992 |
|
1:216595269-216595270 |
1:216421927-216421928 |
44 |
USH2A |
NM_007123.5(USH2A):c.2898del (p.Thr967fs) |
deletion |
Pathogenic |
2352 |
rs397518008 |
1:216405390-216405390 |
1:216232048-216232048 |
45 |
USH2A |
NM_206933.3(USH2A):c.7595-2144A>G |
SNV |
Pathogenic |
30722 |
rs786200928 |
1:216064540-216064540 |
1:215891198-215891198 |
46 |
USH2A |
NM_206933.3(USH2A):c.10190_10191del (p.Lys3397fs) |
deletion |
Pathogenic |
48343 |
rs397517964 |
1:215960208-215960209 |
1:215786866-215786867 |
47 |
USH2A |
NM_206933.3(USH2A):c.1036A>C (p.Asn346His) |
SNV |
Pathogenic |
48347 |
rs369522997 |
1:216498754-216498754 |
1:216325412-216325412 |
48 |
USH2A |
NM_206933.3(USH2A):c.11411del (p.Pro3804fs) |
deletion |
Pathogenic |
48375 |
rs397517973 |
1:215916656-215916656 |
1:215743314-215743314 |
49 |
USH2A |
NM_206933.4(USH2A):c.12067-2A>G |
SNV |
Pathogenic |
48390 |
rs397517978 |
1:215853720-215853720 |
1:215680378-215680378 |
50 |
USH2A |
NM_206933.4(USH2A):c.12868C>T (p.Gln4290Ter) |
SNV |
Pathogenic |
48408 |
rs397517983 |
1:215848385-215848385 |
1:215675043-215675043 |