1 |
WDR19 |
NM_025132.4(WDR19):c.3868_3871del (p.Thr1290fs) |
DEL |
Pathogenic
|
558761 |
rs747165335 |
GRCh37: 4:39279776-39279779 GRCh38: 4:39278156-39278159 |
2 |
GRK2 |
NM_001619.5(GRK2):c.469C>T (p.Leu157Phe) |
SNV |
Pathogenic
|
1184830 |
|
GRCh37: 11:67047337-67047337 GRCh38: 11:67279866-67279866 |
3 |
TTC21B |
NM_024753.5(TTC21B):c.1320del (p.Phe440fs) |
DEL |
Pathogenic
|
446650 |
rs775836730 |
GRCh37: 2:166785711-166785711 GRCh38: 2:165929201-165929201 |
4 |
TTC21B |
NM_024753.5(TTC21B):c.2758-2A>G |
SNV |
Pathogenic
|
30937 |
rs766132877 |
GRCh37: 2:166756392-166756392 GRCh38: 2:165899882-165899882 |
5 |
TTC21B |
NM_024753.5(TTC21B):c.3144del (p.Ala1049fs) |
DEL |
Pathogenic
|
1372589 |
|
GRCh37: 2:166747108-166747108 GRCh38: 2:165890598-165890598 |
6 |
TTC21B |
NM_024753.5(TTC21B):c.1715C>A (p.Ser572Ter) |
SNV |
Pathogenic
|
546034 |
rs369159801 |
GRCh37: 2:166773951-166773951 GRCh38: 2:165917441-165917441 |
7 |
IFT140, LOC105371046 |
NM_014714.4(IFT140):c.1380del (p.Asn460fs) |
DEL |
Pathogenic
|
97055 |
rs431905522 |
GRCh37: 16:1633367-1633367 GRCh38: 16:1583366-1583366 |
8 |
TTC21B |
NM_024753.5(TTC21B):c.1263_1266dup (p.Leu423fs) |
DUP |
Pathogenic
|
1379421 |
|
GRCh37: 2:166785764-166785765 GRCh38: 2:165929254-165929255 |
9 |
TTC21B |
NM_024753.5(TTC21B):c.1138C>T (p.Gln380Ter) |
SNV |
Pathogenic
|
1392901 |
|
GRCh37: 2:166786207-166786207 GRCh38: 2:165929697-165929697 |
10 |
DYNC2H1 |
|
DEL |
Pathogenic
|
558749 |
|
GRCh37: 11:103016481-103177263 GRCh38: 11:103145752-103306534 |
11 |
TTC21B |
NM_024753.5(TTC21B):c.2337T>G (p.Tyr779Ter) |
SNV |
Pathogenic
|
1361272 |
|
GRCh37: 2:166767961-166767961 GRCh38: 2:165911451-165911451 |
12 |
TRIM59-IFT80, IFT80 |
NM_020800.3(IFT80):c.629_630del (p.Asp209_Cys210insTer) |
DEL |
Pathogenic
|
1365265 |
|
GRCh37: 3:160075286-160075287 GRCh38: 3:160357498-160357499 |
13 |
TTC21B |
NM_024753.5(TTC21B):c.2572C>T (p.Arg858Ter) |
SNV |
Pathogenic
|
1399888 |
|
GRCh37: 2:166758417-166758417 GRCh38: 2:165901907-165901907 |
14 |
TTC21B |
NM_024753.5(TTC21B):c.1575T>G (p.Tyr525Ter) |
SNV |
Pathogenic
|
1436713 |
|
GRCh37: 2:166775885-166775885 GRCh38: 2:165919375-165919375 |
15 |
TTC21B |
NM_024753.5(TTC21B):c.1377T>A (p.Cys459Ter) |
SNV |
Pathogenic
|
1363746 |
|
GRCh37: 2:166785654-166785654 GRCh38: 2:165929144-165929144 |
16 |
TTC21B |
NM_024753.5(TTC21B):c.2482dup (p.Met828fs) |
DUP |
Pathogenic
|
1453748 |
|
GRCh37: 2:166764273-166764274 GRCh38: 2:165907763-165907764 |
17 |
TRIM59-IFT80, IFT80 |
NM_020800.3(IFT80):c.1066del (p.Tyr356fs) |
DEL |
Pathogenic
|
1453983 |
|
GRCh37: 3:160025461-160025461 GRCh38: 3:160307673-160307673 |
18 |
overlap with 20 genes |
NC_000011.9:g.(?_101323686)_(103349981_?)del |
DEL |
Pathogenic
|
1455268 |
|
GRCh37: 11:101323686-103349981 GRCh38: |
19 |
TTC21B |
NM_024753.5(TTC21B):c.3044del (p.Arg1015fs) |
DEL |
Pathogenic
|
1363403 |
|
GRCh37: 2:166747405-166747405 GRCh38: 2:165890895-165890895 |
20 |
TTC21B |
NM_024753.5(TTC21B):c.2692C>T (p.Arg898Ter) |
SNV |
Pathogenic
|
1457474 |
|
GRCh37: 2:166758297-166758297 GRCh38: 2:165901787-165901787 |
21 |
TTC21B |
NM_024753.5(TTC21B):c.1942dup (p.Ser648fs) |
DUP |
Pathogenic
|
1458764 |
|
GRCh37: 2:166771906-166771907 GRCh38: 2:165915396-165915397 |
22 |
TTC21B |
NM_024753.5(TTC21B):c.1007_1025del (p.Leu336fs) |
DEL |
Pathogenic
|
1424345 |
|
GRCh37: 2:166786744-166786762 GRCh38: 2:165930234-165930252 |
23 |
TTC21B |
NM_024753.5(TTC21B):c.1346T>G (p.Leu449Ter) |
SNV |
Pathogenic
|
1456585 |
|
GRCh37: 2:166785685-166785685 GRCh38: 2:165929175-165929175 |
24 |
TTC21B |
NM_024753.5(TTC21B):c.3112G>T (p.Glu1038Ter) |
SNV |
Pathogenic
|
1417573 |
|
GRCh37: 2:166747140-166747140 GRCh38: 2:165890630-165890630 |
25 |
TRIM59-IFT80, IFT80 |
NM_020800.3(IFT80):c.225_226insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAACAAACC (p.Gln76fs) |
INSERT |
Pathogenic
|
1442026 |
|
GRCh37: 3:160099324-160099325 GRCh38: 3:160381536-160381537 |
26 |
TTC21B |
NM_024753.5(TTC21B):c.3076C>T (p.Gln1026Ter) |
SNV |
Pathogenic
|
1458640 |
|
GRCh37: 2:166747373-166747373 GRCh38: 2:165890863-165890863 |
27 |
TTC21B |
NM_024753.5(TTC21B):c.172C>T (p.Arg58Ter) |
SNV |
Pathogenic
|
1451834 |
|
GRCh37: 2:166805994-166805994 GRCh38: 2:165949484-165949484 |
28 |
TTC21B |
NM_024753.5(TTC21B):c.3045del (p.Asn1016fs) |
DEL |
Pathogenic
|
1451840 |
|
GRCh37: 2:166747404-166747404 GRCh38: 2:165890894-165890894 |
29 |
TRIM59-IFT80, IFT80 |
NM_020800.3(IFT80):c.898_899del (p.Glu300fs) |
DEL |
Pathogenic
|
1435198 |
|
GRCh37: 3:160037606-160037607 GRCh38: 3:160319818-160319819 |
30 |
DYNC2H1 |
NC_000011.9:g.(?_103325894)_(103349981_?)del |
DEL |
Pathogenic
|
1456954 |
|
GRCh37: 11:103325894-103349981 GRCh38: |
31 |
TRIM59-IFT80, IFT80 |
NM_020800.3(IFT80):c.551G>A (p.Trp184Ter) |
SNV |
Pathogenic
|
1453252 |
|
GRCh37: 3:160075365-160075365 GRCh38: 3:160357577-160357577 |
32 |
TRIM59-IFT80, IFT80 |
NM_020800.3(IFT80):c.1388del (p.Ile463fs) |
DEL |
Pathogenic
|
1451633 |
|
GRCh37: 3:160000394-160000394 GRCh38: 3:160282606-160282606 |
33 |
TTC21B |
NM_024753.5(TTC21B):c.3164G>A (p.Trp1055Ter) |
SNV |
Pathogenic
|
1351437 |
|
GRCh37: 2:166747088-166747088 GRCh38: 2:165890578-165890578 |
34 |
TTC21B |
NM_024753.5(TTC21B):c.2818C>T (p.Gln940Ter) |
SNV |
Pathogenic
|
1350763 |
|
GRCh37: 2:166756330-166756330 GRCh38: 2:165899820-165899820 |
35 |
TRIM59-IFT80, IFT80 |
NM_020800.3(IFT80):c.1961del (p.Asn654fs) |
DEL |
Pathogenic
|
935920 |
rs779179710 |
GRCh37: 3:159995232-159995232 GRCh38: 3:160277444-160277444 |
36 |
TRIM59-IFT80, IFT80 |
NM_020800.3(IFT80):c.1187del (p.Leu396fs) |
DEL |
Pathogenic
|
957559 |
rs1716383227 |
GRCh37: 3:160018799-160018799 GRCh38: 3:160301011-160301011 |
37 |
TRIM59-IFT80, IFT80 |
NM_020800.3(IFT80):c.972_973insNNNNNNNNTTTTTTTT (p.Asn325delinsXaaXaaXaaPhePheTer) |
MICROSAT |
Pathogenic
|
1072907 |
|
GRCh37: 3:160025554-160025555 GRCh38: 3:160307766-160307767 |
38 |
TTC21B |
NM_024753.5(TTC21B):c.3383_3384del (p.Tyr1128fs) |
DEL |
Pathogenic
|
528906 |
rs1553506530 |
GRCh37: 2:166744864-166744865 GRCh38: 2:165888354-165888355 |
39 |
IFT80 |
NC_000003.12:g.(?_160299237)_(160319939_?)del |
DEL |
Pathogenic
|
830648 |
|
GRCh37: 3:160017025-160037727 GRCh38: |
40 |
TTC21B |
NM_024753.5(TTC21B):c.1546C>T (p.Gln516Ter) |
SNV |
Pathogenic
|
1070283 |
|
GRCh37: 2:166775914-166775914 GRCh38: 2:165919404-165919404 |
41 |
TRIM59-IFT80, IFT80 |
NM_020800.3(IFT80):c.1882C>T (p.Arg628Ter) |
SNV |
Pathogenic
|
1071537 |
|
GRCh37: 3:159995413-159995413 GRCh38: 3:160277625-160277625 |
42 |
TRIM59-IFT80, IFT80 |
NM_020800.3(IFT80):c.639+1del |
DEL |
Pathogenic
|
1075438 |
|
GRCh37: 3:160075276-160075276 GRCh38: 3:160357488-160357488 |
43 |
overlap with 7 genes |
NC_000002.11:g.(?_165946660)_(167168266_?)del |
DEL |
Pathogenic
|
1054402 |
|
GRCh37: 2:165946660-167168266 GRCh38: |
44 |
TTC21B-AS1, TTC21B |
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) |
SNV |
Pathogenic
|
30935 |
rs140511594 |
GRCh37: 2:166797621-166797621 GRCh38: 2:165941111-165941111 |
45 |
KIAA0753 |
NM_014804.3(KIAA0753):c.943C>T (p.Gln315Ter) |
SNV |
Pathogenic
|
428615 |
rs762771340 |
GRCh37: 17:6526363-6526363 GRCh38: 17:6623043-6623043 |
46 |
KIAA0753 |
NM_014804.3(KIAA0753):c.970C>T (p.Arg324Ter) |
SNV |
Pathogenic
Pathogenic
|
428613 |
rs746068882 |
GRCh37: 17:6526336-6526336 GRCh38: 17:6623016-6623016 |
47 |
KIAA0753 |
NM_014804.3(KIAA0753):c.1271del (p.Pro424fs) |
DEL |
Pathogenic
|
428614 |
rs1555531363 |
GRCh37: 17:6524152-6524152 GRCh38: 17:6620832-6620832 |
48 |
TTC21B-AS1, TTC21B |
NM_024753.5(TTC21B):c.684G>A (p.Trp228Ter) |
SNV |
Pathogenic
Pathogenic
|
216125 |
rs777162250 |
GRCh37: 2:166797563-166797563 GRCh38: 2:165941053-165941053 |
49 |
TTC21B |
NM_024753.5(TTC21B):c.1231C>T (p.Arg411Ter) |
SNV |
Pathogenic
|
30938 |
rs185089786 |
GRCh37: 2:166785800-166785800 GRCh38: 2:165929290-165929290 |
50 |
DYNC2H1 |
NM_001377.3(DYNC2H1):c.5495C>A (p.Ser1832Ter) |
SNV |
Pathogenic
|
238272 |
rs754919042 |
GRCh37: 11:103043971-103043971 GRCh38: 11:103173242-103173242 |