1 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.2327C> T (p.Pro776Leu)
|
single nucleotide variant |
Pathogenic |
rs1057518083
|
14:102452889-102452889 |
14:101986552-101986552 |
2 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.1792C> T (p.Arg598Cys)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs587780564
|
14:102452354-102452354 |
14:101986017-101986017 |
3 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.5885G> A (p.Arg1962His)
|
single nucleotide variant |
Likely pathogenic |
rs1057518287
|
14:102474582-102474582 |
14:102008245-102008245 |
4 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.10160T> C (p.Leu3387Pro)
|
single nucleotide variant |
Likely pathogenic |
|
14:102499482-102499482 |
14:102033145-102033145 |
5 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.8784A> G (p.Gln2928=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs149753029
|
14:102493523-102493523 |
14:102027186-102027186 |
6 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.12514-9C> A
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs74874468
|
14:102510203-102510203 |
14:102043866-102043866 |
7 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.13149C> T (p.Thr4383=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs375767483
|
14:102514296-102514296 |
14:102047959-102047959 |
8 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.13764G> A (p.Thr4588=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs35079638
|
14:102516487-102516487 |
14:102050150-102050150 |
9 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.432G> A (p.Ser144=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs533327200
|
14:102445743-102445743 |
14:101979406-101979406 |
10 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.2211T> A (p.Val737=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs149902566
|
14:102452773-102452773 |
14:101986436-101986436 |
11 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.2721T> C (p.Ile907=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs114021657
|
14:102455042-102455042 |
14:101988705-101988705 |
12 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.4854T> C (p.Tyr1618=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs75094258
|
14:102469273-102469273 |
14:102002936-102002936 |
13 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.8304G> A (p.Pro2768=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs77113510
|
14:102484914-102484914 |
14:102018577-102018577 |
14 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.9210G> A (p.Pro3070=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs201817995
|
14:102494117-102494117 |
14:102027780-102027780 |
15 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.11460+4G> A
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs201518717
|
14:102505595-102505595 |
14:102039258-102039258 |
16 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.12258C> T (p.Thr4086=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs141242095
|
14:102508608-102508608 |
14:102042271-102042271 |
17 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.13219-9C> T
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs17541650
|
14:102514844-102514844 |
14:102048507-102048507 |
18 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.13515+8C> T
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs200901713
|
14:102515927-102515927 |
14:102049590-102049590 |
19 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.3495T> C (p.Asp1165=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs144359313
|
14:102461568-102461568 |
14:101995231-101995231 |
20 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.5295A> G (p.Ala1765=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs139919955
|
14:102471435-102471435 |
14:102005098-102005098 |
21 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.13359C> T (p.Asn4453=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs140033479
|
14:102514993-102514993 |
14:102048656-102048656 |
22 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.1704T> C (p.Leu568=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs192959810
|
14:102452266-102452266 |
14:101985929-101985929 |
23 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.12705G> A (p.Pro4235=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs199792795
|
14:102510631-102510631 |
14:102044294-102044294 |
24 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.345-10T> G
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs202110844
|
14:102445646-102445646 |
14:101979309-101979309 |
25 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.1509A> G (p.Gln503=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs1057522046
|
14:102452071-102452071 |
14:101985734-101985734 |
26 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.1191C> T (p.Gly397=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs750305144
|
14:102449585-102449585 |
14:101983248-101983248 |
27 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.1827C> G (p.Ile609Met)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs760971556
|
14:102452389-102452389 |
14:101986052-101986052 |
28 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.13024A> G (p.Lys4342Glu)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs747829220
|
14:102514171-102514171 |
14:102047834-102047834 |
29 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.5311G> A (p.Gly1771Arg)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs139842853
|
14:102471451-102471451 |
14:102005114-102005114 |
30 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.751C> T (p.Arg251Cys)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs879253979
|
14:102446288-102446288 |
14:101979951-101979951 |
31 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.2737G> A (p.Val913Ile)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs372740994
|
14:102455058-102455058 |
14:101988721-101988721 |
32 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.10522C> A (p.Leu3508Ile)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs149496322
|
14:102500421-102500421 |
14:102034084-102034084 |
33 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.239A> G (p.Glu80Gly)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs751092252
|
14:102431267-102431267 |
14:101964930-101964930 |
34 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.1466C> T (p.Thr489Met)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs773725715
|
14:102452028-102452028 |
14:101985691-101985691 |
35 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.2376C> T (p.Cys792=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs35092963
|
14:102452938-102452938 |
14:101986601-101986601 |
36 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.3073C> T (p.Arg1025Trp)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs777387819
|
14:102460578-102460578 |
14:101994241-101994241 |
37 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.2869-3C> T
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs750614475
|
14:102457861-102457861 |
14:101991524-101991524 |
38 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.8344-4A> G
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs200913985
|
14:102486226-102486226 |
14:102019889-102019889 |
39 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.10941G> A (p.Pro3647=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs374214760
|
14:102504829-102504829 |
14:102038492-102038492 |
40 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.917A> G (p.His306Arg)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs387906738
|
14:102446843-102446843 |
14:101980506-101980506 |
41 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.12102+6G> A
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs377669980
|
14:102508077-102508077 |
14:102041740-102041740 |
42 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.5001C> T (p.Asn1667=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs117199211
|
14:102470972-102470972 |
14:102004635-102004635 |
43 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.752G> A (p.Arg251His)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs794727634
|
14:102446289-102446289 |
14:101979952-101979952 |
44 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.8478A> G (p.Ala2826=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs117846737
|
14:102486364-102486364 |
14:102020027-102020027 |
45 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.10887C> T (p.Phe3629=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs141133453
|
14:102502958-102502958 |
14:102036621-102036621 |
46 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.7458G> T (p.Leu2486=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs17541165
|
14:102482408-102482408 |
14:102016071-102016071 |
47 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.7758C> T (p.Ala2586=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs145487328
|
14:102483246-102483246 |
14:102016909-102016909 |
48 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.7918G> A (p.Glu2640Lys)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs797045535
|
14:102483494-102483494 |
14:102017157-102017157 |
49 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.8502A> G (p.Gln2834=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs146220233
|
14:102486388-102486388 |
14:102020051-102020051 |
50 |
DYNC1H1
|
NM_001376.5(DYNC1H1): c.9138G> T (p.Ser3046=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs34338935
|
14:102494045-102494045 |
14:102027708-102027708 |