1 |
DNAH5 |
NM_001369.3(DNAH5):c.11725C>T (p.Arg3909Ter) |
SNV |
Pathogenic
|
407242 |
rs1060501464 |
GRCh37: 5:13735276-13735276 GRCh38: 5:13735167-13735167 |
2 |
CERS1, GDF1 |
NM_001492.6(GDF1):c.608G>A (p.Trp203Ter) |
SNV |
Pathogenic
|
985628 |
rs1359321518 |
GRCh37: 19:18979917-18979917 GRCh38: 19:18869108-18869108 |
3 |
CFAP53 |
NM_145020.5(CFAP53):c.778-2A>T |
SNV |
Pathogenic
|
1065350 |
|
GRCh37: 18:47777348-47777348 GRCh38: 18:50250978-50250978 |
4 |
CFAP300 |
NM_032930.3(CFAP300):c.693_694insGA (p.Tyr232fs) |
INSERT |
Pathogenic
|
1065351 |
|
GRCh37: 11:101953819-101953820 GRCh38: 11:102083088-102083089 |
5 |
CCDC40 |
NM_017950.4(CCDC40):c.2832+489_2832+491dup |
DUP |
Pathogenic
|
1065352 |
|
GRCh37: 17:78064171-78064172 GRCh38: 17:80090372-80090373 |
6 |
ODAD4 |
NM_031421.5(ODAD4):c.1979del (p.Thr660fs) |
DEL |
Pathogenic
|
1065353 |
|
GRCh37: 17:40117461-40117461 GRCh38: 17:41965443-41965443 |
7 |
CFAP298-TCP10L, CFAP298 |
NM_021254.4(CFAP298):c.308C>A (p.Ala103Asp) |
SNV |
Pathogenic
|
1065354 |
|
GRCh37: 21:33980026-33980026 GRCh38: 21:32607716-32607716 |
8 |
DNAH7 |
NM_018897.3(DNAH7):c.8209G>A (p.Gly2737Ser) |
SNV |
Pathogenic
|
599649 |
rs770861172 |
GRCh37: 2:196722306-196722306 GRCh38: 2:195857582-195857582 |
9 |
DNAH7 |
NM_018897.3(DNAH7):c.11947C>T (p.Arg3983Trp) |
SNV |
Pathogenic
|
599650 |
rs114621989 |
GRCh37: 2:196602773-196602773 GRCh38: 2:195738049-195738049 |
10 |
CCDC103 |
NM_213607.3(CCDC103):c.568_569dup (p.Ser190fs) |
MICROSAT |
Pathogenic
|
455029 |
rs746242380 |
GRCh37: 17:42980013-42980014 GRCh38: 17:44902645-44902646 |
11 |
DNAAF11 |
NM_012472.6(DNAAF11):c.436G>C (p.Asp146His) |
SNV |
Pathogenic
|
39798 |
rs200321595 |
GRCh37: 8:133645203-133645203 GRCh38: 8:132632957-132632957 |
12 |
DNAH5 |
NM_001369.3(DNAH5):c.8029C>T (p.Arg2677Ter) |
SNV |
Pathogenic
|
238987 |
rs775946081 |
GRCh37: 5:13793819-13793819 GRCh38: 5:13793710-13793710 |
13 |
DNAAF1 |
NM_178452.6(DNAAF1):c.1698+1G>A |
SNV |
Pathogenic
|
242159 |
rs139519641 |
GRCh37: 16:84208329-84208329 GRCh38: 16:84174723-84174723 |
14 |
PKD1L1 |
NM_138295.5(PKD1L1):c.6473+2_6473+3del |
DEL |
Pathogenic
|
235796 |
rs528302390 |
GRCh37: 7:47870812-47870813 GRCh38: 7:47831214-47831215 |
15 |
PKD1L1 |
NM_138295.5(PKD1L1):c.5072G>C (p.Cys1691Ser) |
SNV |
Likely Pathogenic
|
235198 |
rs886037834 |
GRCh37: 7:47886558-47886558 GRCh38: 7:47846960-47846960 |
16 |
BRWD1 |
NM_033656.4(BRWD1):c.5573A>T (p.Gln1858Leu) |
SNV |
Likely Pathogenic
|
982437 |
|
GRCh37: 21:40570769-40570769 GRCh38: 21:39198843-39198843 |
17 |
CCDC39 |
NM_181426.2(CCDC39):c.1871_1872del (p.Ile624fs) |
DEL |
Likely Pathogenic
|
565319 |
rs1560086701 |
GRCh37: 3:180359783-180359784 GRCh38: 3:180641995-180641996 |
18 |
MNS1, TEX9 |
NM_018365.4(MNS1):c.407_410del (p.Glu136fs) |
MICROSAT |
Likely Pathogenic
|
635005 |
rs1596264554 |
GRCh37: 15:56739085-56739088 GRCh38: 15:56446887-56446890 |
19 |
DNAH11 |
NM_001277115.2(DNAH11):c.3253C>T (p.Gln1085Ter) |
SNV |
Likely Pathogenic
|
1678873 |
|
GRCh37: 7:21640546-21640546 GRCh38: 7:21600928-21600928 |
20 |
CDCA7L, DNAH11 |
NM_001277115.2(DNAH11):c.13346_13367del (p.Arg4449fs) |
DEL |
Likely Pathogenic
|
1678874 |
|
GRCh37: 7:21940663-21940684 GRCh38: 7:21901045-21901066 |
21 |
DAND5 |
NM_152654.3(DAND5):c.396_397dup (p.Tyr133fs) |
MICROSAT |
Likely Pathogenic
|
1065356 |
|
GRCh37: 19:13084267-13084268 GRCh38: 19:12973453-12973454 |
22 |
CFAP53 |
NM_145020.5(CFAP53):c.777G>T (p.Val259=) |
SNV |
Likely Pathogenic
|
1065355 |
|
GRCh37: 18:47777851-47777851 GRCh38: 18:50251481-50251481 |
23 |
PKD1L1 |
NM_138295.5(PKD1L1):c.5404_5405dup (p.Asp1803fs) |
DUP |
Likely Pathogenic
|
1065357 |
|
GRCh37: 7:47882599-47882600 GRCh38: 7:47843001-47843002 |
24 |
CELSR1 |
NM_001378328.1(CELSR1):c.5497G>A (p.Val1833Met) |
SNV |
Uncertain Significance
|
1065358 |
|
GRCh37: 22:46794450-46794450 GRCh38: 22:46398553-46398553 |
25 |
DNAH6 |
NM_001370.2(DNAH6):c.6181C>T (p.Arg2061Ter) |
SNV |
Uncertain Significance
|
1065359 |
|
GRCh37: 2:84896509-84896509 GRCh38: 2:84669385-84669385 |
26 |
CFAP46 |
NM_001200049.3(CFAP46):c.1951C>T (p.Arg651Trp) |
SNV |
Uncertain Significance
|
1065360 |
|
GRCh37: 10:134731932-134731932 GRCh38: 10:132918428-132918428 |
27 |
CFAP52 |
NM_145054.5(CFAP52):c.1027G>A (p.Gly343Ser) |
SNV |
Uncertain Significance
|
1510687 |
|
GRCh37: 17:9531990-9531990 GRCh38: 17:9628673-9628673 |
28 |
CFAP52 |
NM_145054.5(CFAP52):c.1492A>G (p.Met498Val) |
SNV |
Uncertain Significance
|
573466 |
rs765338836 |
GRCh37: 17:9541945-9541945 GRCh38: 17:9638628-9638628 |
29 |
CFAP52 |
NM_145054.5(CFAP52):c.1625G>A (p.Gly542Asp) |
SNV |
Uncertain Significance
|
574037 |
rs552119987 |
GRCh37: 17:9545090-9545090 GRCh38: 17:9641773-9641773 |
30 |
CFAP52 |
NM_145054.5(CFAP52):c.1404G>T (p.Arg468Ser) |
SNV |
Uncertain Significance
|
581962 |
rs775063335 |
GRCh37: 17:9538805-9538805 GRCh38: 17:9635488-9635488 |
31 |
CFAP52 |
NM_145054.5(CFAP52):c.1430T>C (p.Val477Ala) |
SNV |
Uncertain Significance
|
582339 |
rs77840450 |
GRCh37: 17:9538831-9538831 GRCh38: 17:9635514-9635514 |
32 |
CFAP52 |
NM_145054.5(CFAP52):c.189delinsAGCA (p.His63delinsGlnAla) |
INDEL |
Uncertain Significance
|
641856 |
rs1597763121 |
GRCh37: 17:9489208-9489208 GRCh38: 17:9585891-9585891 |
33 |
CFAP52 |
NM_145054.5(CFAP52):c.1304del (p.Gly435fs) |
DEL |
Uncertain Significance
|
1285595 |
|
GRCh37: 17:9536333-9536333 GRCh38: 17:9633016-9633016 |
34 |
CFAP52 |
NM_145054.5(CFAP52):c.771G>T (p.Arg257Ser) |
SNV |
Uncertain Significance
|
645178 |
rs1389914976 |
GRCh37: 17:9511453-9511453 GRCh38: 17:9608136-9608136 |
35 |
CFAP52 |
NM_145054.5(CFAP52):c.1780C>T (p.Arg594Cys) |
SNV |
Uncertain Significance
|
841069 |
rs200319536 |
GRCh37: 17:9546432-9546432 GRCh38: 17:9643115-9643115 |
36 |
CFAP52 |
NM_145054.5(CFAP52):c.482C>A (p.Ala161Asp) |
SNV |
Uncertain Significance
|
841952 |
rs147354190 |
GRCh37: 17:9497584-9497584 GRCh38: 17:9594267-9594267 |
37 |
CFAP52 |
NM_145054.5(CFAP52):c.969A>T (p.Lys323Asn) |
SNV |
Uncertain Significance
|
861945 |
rs767468275 |
GRCh37: 17:9515740-9515740 GRCh38: 17:9612423-9612423 |
38 |
CFAP52 |
NM_145054.5(CFAP52):c.121T>C (p.Tyr41His) |
SNV |
Uncertain Significance
|
942263 |
rs371902741 |
GRCh37: 17:9489140-9489140 GRCh38: 17:9585823-9585823 |
39 |
CFAP52 |
NM_145054.5(CFAP52):c.439G>A (p.Ala147Thr) |
SNV |
Uncertain Significance
|
962973 |
rs748587285 |
GRCh37: 17:9497541-9497541 GRCh38: 17:9594224-9594224 |
40 |
CFAP52 |
NM_145054.5(CFAP52):c.1106G>A (p.Arg369Gln) |
SNV |
Uncertain Significance
|
1038824 |
rs141646758 |
GRCh37: 17:9532069-9532069 GRCh38: 17:9628752-9628752 |
41 |
CFAP52 |
NM_145054.5(CFAP52):c.1601G>C (p.Gly534Ala) |
SNV |
Uncertain Significance
|
1054061 |
|
GRCh37: 17:9545066-9545066 GRCh38: 17:9641749-9641749 |
42 |
CFAP52 |
NM_145054.5(CFAP52):c.531T>A (p.Ala177=) |
SNV |
Uncertain Significance
|
1394379 |
|
GRCh37: 17:9497633-9497633 GRCh38: 17:9594316-9594316 |
43 |
CFAP52 |
NM_145054.5(CFAP52):c.1652T>C (p.Met551Thr) |
SNV |
Uncertain Significance
|
1416427 |
|
GRCh37: 17:9545117-9545117 GRCh38: 17:9641800-9641800 |
44 |
CFAP52 |
NM_145054.5(CFAP52):c.244G>A (p.Gly82Arg) |
SNV |
Uncertain Significance
|
1419105 |
|
GRCh37: 17:9489263-9489263 GRCh38: 17:9585946-9585946 |
45 |
CFAP52 |
NM_145054.5(CFAP52):c.536+1G>T |
SNV |
Uncertain Significance
|
1443577 |
|
GRCh37: 17:9497639-9497639 GRCh38: 17:9594322-9594322 |
46 |
BRWD1 |
NM_033656.4(BRWD1):c.523C>T (p.His175Tyr) |
SNV |
Uncertain Significance
|
982436 |
|
GRCh37: 21:40667755-40667755 GRCh38: 21:39295829-39295829 |
47 |
BRWD1 |
NM_033656.4(BRWD1):c.166G>A (p.Gly56Ser) |
SNV |
Uncertain Significance
|
982435 |
|
GRCh37: 21:40684799-40684799 GRCh38: 21:39312873-39312873 |
48 |
CFAP52 |
NM_145054.5(CFAP52):c.734C>T (p.Ala245Val) |
SNV |
Uncertain Significance
|
1001316 |
rs146845939 |
GRCh37: 17:9503481-9503481 GRCh38: 17:9600164-9600164 |
49 |
CFAP52 |
NM_145054.5(CFAP52):c.509G>A (p.Arg170Gln) |
SNV |
Uncertain Significance
|
969026 |
rs34653219 |
GRCh37: 17:9497611-9497611 GRCh38: 17:9594294-9594294 |
50 |
CFAP52 |
NM_145054.5(CFAP52):c.199G>A (p.Val67Ile) |
SNV |
Uncertain Significance
|
544338 |
rs201479202 |
GRCh37: 17:9489218-9489218 GRCh38: 17:9585901-9585901 |