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Genes at Omim

CACNA1A, CD320, CHD1, EIF2AK3, FOXE1, HYDIN, KAT6B, KRT10, MAP3K1, PIEZO1, TMIE, WDR60,
CACNA1A Epileptic encephalopathy, early infantile, 42, 617106 (3)
Episodic ataxia, type 2, 108500 (3)
Migraine, familial hemiplegic, 1, 141500 (3)
Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3)
Spinocerebellar ataxia 6, 183086 (3)
CD320 Methylmalonic aciduria, transient, due to transcobalamin receptor defect, 613646 (3)
CHD1 Pilarowski-Bjornsson syndrome, 617682 (3)
EIF2AK3 Wolcott-Rallison syndrome, 226980 (3)
FOXE1 Bamforth-Lazarus syndrome, 241850 (3)
{Thyroid cancer, nonmedullary, 4}, 616534 (3)
HYDIN Ciliary dyskinesia, primary, 5, 608647 (3)
KAT6B Genitopatellar syndrome, 606170 (3)
SBBYSS syndrome, 603736 (3)
KRT10 Epidermolytic hyperkeratosis, 113800 (3)
Ichthyosis with confetti, 609165 (3)
Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3)
MAP3K1 46XY sex reversal 6, 613762 (3)
PIEZO1 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 (3)
Lymphatic malformation 6, 616843 (3)
TMIE Deafness, autosomal recessive 6, 600971 (3)
WDR60 Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 (3)

Genes at Clinical Genomics Database

CACNA1A, CD320, EIF2AK3, FOXE1, KAT6B, KRT10, MAP3K1, PIEZO1, TMIE, WDR60,
CACNA1A Episodic ataxia, type 2
Migraine, familial hemiplegic 1
CD320 Methylmalonic aciduria due to transcobalamin receptor defect
EIF2AK3 Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
Wolcott-Rallison syndrome
FOXE1 Thyroid cancer, nonmedullary 4
Hypothyroidism, thyroidal, with spiky hair and cleft palate (Bamforth-Lazarus syndrome)
Congenital hypothyroidism
KAT6B Ohdo syndrome, SBBYS variant
Genitopatellar syndrome
KRT10 Erythroderma, ichthyosiform, congenital reticular
Aaru disease
Ichthyosis, cyclic, with epidermolytic hyperkeratosis
Epidermolytic hyperkeratosis
Ichthyosis with confetti
MAP3K1 46,XY sex reversal 6
PIEZO1 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
TMIE Deafness, autosomal recessive 6
WDR60 Short -rib thoracic dysplasia 8 with or without polydactyly

Genes at HGMD

Summary

Number of Variants: 52
Number of Genes: 51

Export to: CSV
  • Page 1 of 1

AC008948.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 5 rs149085489
dbSNP Clinvar
101570503 0.0 CT... C . 1/. 33 CODON_DELETION MODERATE None 0.40575 0.40580 None None None None None None SLCO4C1|0.038449749|66.31%

AC090616.2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 17 . 30469470 0.0 CC... C . 1/1 14 CODON_DELETION MODERATE None None None None None None None None

ACTRT2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 1 rs4013154
dbSNP Clinvar
2938407 0.0 CAGA C . 1/. 26 CODON_DELETION MODERATE None 0.11242 0.11240 0.12492 None None None None None None ACTRT2|0.018444598|74.99%

ALPK2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 18 rs60644017
dbSNP Clinvar
56204391 0.0 TT... T . 1/. 25 CODON_DELETION MODERATE None None None None None None None ALPK2|0.002935349|88.74%

AXDND1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 1 rs141228272
dbSNP Clinvar
179504025 0.0 AAAG A . 1/. 33 CODON_DELETION MODERATE None None None None None None None AXDND1|0.018165173|75.2%

C19orf33

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 19 rs139805446
dbSNP Clinvar
38795546 0.0 TGAA T . 1/. 23 CODON_DELETION MODERATE None 0.15395 0.15400 0.13221 None None None None None None C19orf33|0.001107009|94.9%

CACNA1A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 19 rs16054
dbSNP Clinvar
13318672 0.0 CC... C . 1/1 19 CODON_DELETION MODERATE None None None None None None None CACNA1A|0.210424701|35.52%

CCDC33

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 15 rs10552820,rs35899977,rs397774110
dbSNP Clinvar
74536400 0.0 TAAG T . 1/. 15 CODON_DELETION MODERATE None 0.37700 0.37700 0.46150 None None None None None None CCDC33|0.011870787|79.31%

CCDC37

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs140223152
dbSNP Clinvar
126142433 0.0 CGGA C . 1/. 30 CODON_DELETION MODERATE None 0.05431 0.05431 0.09665 None None None None None None CCDC37|0.004773865|86.13%

CD320

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 19 rs150384171
dbSNP Clinvar
8369918 0.0 ACTC A . 1/. 23 CODON_DELETION MODERATE None 0.00699 0.00699 0.01078 None None None None None None CD320|0.001249206|94.17%

CHD1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 5 rs138635992
dbSNP Clinvar
98192164 0.0 AAGG A . 1/. 35 CODON_DELETION MODERATE None 0.21266 0.21270 0.29454 None None None None None None CHD1|0.573996389|12.85%

CLSPN

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 1 rs200760879
dbSNP Clinvar
36203659 0.0 TTTC T . 1/. 22 CODON_DELETION MODERATE None 0.02816 0.02815 0.04617 None None None None None None CLSPN|0.34368966|24.58%

DACH1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 13 rs782647326,rs748058171
dbSNP Clinvar
72440658 0.0 TG... T . 1/1 13 CODON_DELETION MODERATE None None None None None None None DACH1|0.996005265|0.75%

DENND4B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 1 rs3835302
dbSNP Clinvar
153907278 0.0 CC... C . 1/. 36 CODON_DELETION MODERATE None None None None None None None DENND4B|0.160276064|41.5%

EIF2AK3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 2 rs72416210
dbSNP Clinvar
88926729 0.0 CCAG C . 1/1 14 CODON_DELETION MODERATE None 0.79653 0.79650 None None None None None None EIF2AK3|0.850003581|4.63%

FLII

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 17 rs139095003
dbSNP Clinvar
18150087 0.0 TCTC T . 1/. 30 CODON_DELETION MODERATE None 0.00579 0.00579 0.00871 None None None None None None FLII|0.336437499|25.05%

FMN1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 15 rs145013933
dbSNP Clinvar
33091102 0.0 CCTT C . 1/. 44 CODON_DELETION MODERATE None 0.02716 0.02716 0.02905 None None None None None None FMN1|0.549093904|13.77%

FNBP4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 11 rs67450550,rs397711020
dbSNP Clinvar
47788663 0.0 CG... C . 1/. 16 CODON_DELETION MODERATE None 0.34385 0.34380 0.28457 None None None None None None FNBP4|0.128911104|46.04%

FOXE1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 9 rs71369530
dbSNP Clinvar
100616700 0.0 AG... A . 1/1 24 CODON_DELETION MODERATE None None None None None None None FOXE1|0.190679781|37.73%

GPR112

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 X rs34255702,rs563570937
dbSNP Clinvar
135474444 0.0 AGAT A . 1 15 CODON_DELETION MODERATE None 0.73722 0.73720 0.36492 None None None None None None ADGRG4|0.00835627|82.29%

HDGFRP2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 19 rs72100503,rs34068770
dbSNP Clinvar
4499632 0.0 AA... A . 1/. 18 CODON_DELETION MODERATE None 0.51777 0.51780 0.03253 None None None None None None None

HYDIN

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 16 rs67115747,rs375727122
dbSNP Clinvar
70954703 0.0 GG... G . 1/. 55 CODON_DELETION MODERATE None None None None None None None HYDIN|0.080749251|55.02%

KAT6B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 10 rs71929101,rs559824889
dbSNP Clinvar
76781905 0.0 GGAA G . 1/1 22 CODON_DELETION MODERATE None 0.00220 0.45870 None None None None None None KAT6B|0.719816483|7.97%

KCNJ12

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 17 rs112163749
dbSNP Clinvar
21319650 0.0 CGAG C . 1/. 94 CODON_DELETION MODERATE None None None None None None None KCNJ12|0.437556296|18.82%

KIAA2018

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 . 113376116 0.0 CTGC C . 1/. 28 CODON_DELETION MODERATE None None None None None None None KIAA2018|0.1345024|45.17%

KRT10

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 17 rs778613907
dbSNP Clinvar
38975307 0.0 TG... T . 1/. 27 CODON_DELETION MODERATE None 0.48653 None None None None None None KRT10|0.085711046|54%

KRTAP10-2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 21 rs67692969,rs71199610
dbSNP Clinvar
45970759 0.0 AC... A . 1/. 30 CODON_DELETION MODERATE None 0.21286 0.21290 0.16850 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-2|0.001938306|91.13%

LRRC17

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 7 rs3832497,rs531650613
dbSNP Clinvar
102574999 0.0 TGAA T . 1/1 35 CODON_DELETION MODERATE None 0.63179 0.63180 0.25633 None None None None None None FBXL13|0.013552601|78.17%,LRRC17|0.102449665|50.7%

MAML3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 4 rs5862430,rs758674725,rs397881377,rs3051167
dbSNP Clinvar
140651584 0.0 TCTG T . 1/1 30 CODON_DELETION MODERATE None 0.99101 0.99100 None None None None None None MGST2|0.034049931|67.77%,MAML3|0.444017284|18.48%

MAP3K1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 5 rs5868032,rs869174877,rs869264361,rs10552703,rs398064829
dbSNP Clinvar
56177848 0.0 TCAA T . 1/. 35 CODON_DELETION MODERATE None None None None None None None MAP3K1|0.554683454|13.53%

MICALCL

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 11 rs573537447,rs3841216
dbSNP Clinvar
12316344 0.0 GC... G . 1/. 15 CODON_DELETION MODERATE None None None None None None None MICALCL|0.003201698|88.32%

OR4L1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 14 . 20528449 0.0 CA... C . 1/. 31 CODON_DELETION MODERATE None None None None None None None OR4L1|0.011360474|79.72%

OR4X1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 11 rs76884411,rs57294041
dbSNP Clinvar
48285981 0.0 CCTT C . 1/. 41 CODON_DELETION MODERATE None 0.60403 0.60400 0.30860 None None None None None None OR4X1|0.01331956|78.29%

PIEZO1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 16 rs144777557
dbSNP Clinvar
88800395 0.0 CCTG C . 1/. 43 CODON_DELETION MODERATE None 0.14700 None None None None None None PIEZO1|0.03248512|68.39%

PKNOX2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 11 rs3832749,rs397840770
dbSNP Clinvar
125301192 0.0 AGAG A . 1/. 25 CODON_DELETION MODERATE None 0.05871 0.05871 None None None None None None PKNOX2|0.885096011|3.83%

PLB1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 2 . 28825776 0.0 TGCA T . 1/. 36 CODON_DELETION MODERATE None None None None None None None PLB1|0.018823638|74.77%

RFPL1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 22 rs71324764,rs3842466
dbSNP Clinvar
29837566 0.0 TTCC T . 1/. 40 CODON_DELETION MODERATE None 0.26677 0.26680 0.35245 None None None None None None RFPL1|0.000705614|97.22%

RNH1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 11 rs71462090,rs71022920
dbSNP Clinvar
502129 0.0 AC... A . 1/. 21 CODON_DELETION MODERATE None 0.05551 0.05551 0.08773 None None None None None None RNH1|0.025357234|71.64%

RTKN2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 10 rs149331212,rs59044276
dbSNP Clinvar
63976912 0.0 TA... T . 1/. 31 CODON_DELETION MODERATE None 0.14058 0.14060 0.18531 None None None None None None RTKN2|0.169836183|40.34%

SNAPC4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 9 rs147271628
dbSNP Clinvar
139277994 0.0 CGCT C . 1/. 23 CODON_DELETION MODERATE None 0.19070 0.19070 None None None None None None SNAPC4|0.002400965|89.89%

SP8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 7 . 20824940 0.0 AGC A . 1/. 19 CODON_DELETION MODERATE None 0.09205 0.09205 0.23883 None None None None None None SP8|0.179774702|39.07%
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 7 rs372591893
dbSNP Clinvar
20824940 0.0 AGCC A . 1/. 19 CODON_DELETION MODERATE None 0.09205 0.09205 0.23883 None None None None None None SP8|0.179774702|39.07%

TDRD3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 13 rs148917045,rs75684327
dbSNP Clinvar
61102575 0.0 GATA G . 1/. 29 CODON_DELETION MODERATE None 0.12061 0.12060 0.14451 None None None None None None TDRD3|0.391554966|21.3%

TDRP

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 8 rs71202629
dbSNP Clinvar
494658 0.0 GG... G . 1/1 22 CODON_DELETION MODERATE None 0.00240 0.22560 0.41245 None None None None None None TDRP|0.007854472|82.72%

TMIE

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs10578999,rs397817178
dbSNP Clinvar
46751073 0.0 TAAG T . 1/1 26 CODON_DELETION MODERATE None 0.75320 None None None None None None TMIE|0.142194222|44.12%

TP53TG5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 20 rs10546815,rs562359566
dbSNP Clinvar
44004155 0.0 CATT C . 1/1 27 CODON_DELETION MODERATE None 0.38658 0.38660 0.48961 None None None None None None SYS1|0.552810093|13.61%,TP53TG5|0.004045663|86.94%

TPRXL

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 . 14105888 0.0 GC... G . 1/. 41 CODON_DELETION MODERATE None None None None None None None TPRXL|0.000462556|98.63%

TSPYL6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 2 rs796797230,rs779914539,rs76397255
dbSNP Clinvar
54482703 0.0 GG... G . 1/. 23 CODON_DELETION MODERATE None 0.15935 0.15930 0.18234 None None None None None None ACYP2|0.067344086|58.08%,TSPYL6|0.001250679|94.15%

USP20

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 9 rs10602985,rs760862530,rs398096692
dbSNP Clinvar
132630664 0.0 TGAC T . 1/1 20 CODON_DELETION MODERATE None 0.84864 0.84860 0.19048 None None None None None None USP20|0.195223584|37.23%

WDR60

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 7 rs145233696,rs3833679
dbSNP Clinvar
158664074 0.0 TGAA T . 1/. 30 CODON_DELETION MODERATE None 0.11641 0.11640 0.15404 None None None None None None WDR60|0.002501665|89.69%

ZNF283

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 19 rs79626467,rs71907168
dbSNP Clinvar
44351166 0.0 GG... G . 1/1 28 CODON_DELETION MODERATE None 0.38778 0.38780 0.38758 None None None None None None ZNF283|0.014136174|77.77%

ZNF284

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 19 rs139900131,rs369411341
dbSNP Clinvar
44589999 0.0 TCTC T . 1/1 25 CODON_DELETION MODERATE None 0.45088 0.45090 0.44731 None None None None None None ZNF284|0.000961429|95.72%
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