Phenotypic Mutations

848 mutations affecting 361 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 100 of 850] per page Full List
 
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1 UTSW Bcl10 0.000 3 145922804-145934356 bp (+) 145930587 Autosomal Dominant (1;4)
 Autosomal Recessive (14;151)

 Autosomal Semidominant (2;11)
excellent candidate 2019-09-11
External Program
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - decreased
 FACS B1a cells in B1 cells - decreased
 FACS B1b cells - decreased
 FACS B1b cells in B1 cells - decreased
 FACS B2 cells - increased
 FACS CD4+ T cells - increased
 FACS CD8+ T cells - increased
 FACS central memory CD4 T cells in CD4 T cells - decreased
 FACS central memory CD8 T cells in CD8 T cells - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM MFI - increased
 FACS IgM+ B cells - decreased
 FACS macrophages - decreased
 FACS neutrophils - decreased
 FACS NK cells - decreased
 FACS T cells - increased
 IgG1 response to a Cysteine Protease (Papain) - decreased
 NK cell response - decreased
 NK killing - decreased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-dependent humoral response defect- decreased antibody response to rSFV
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
A ⇒ G missense probably damaging 0.999
2 UTSW Gys2 0.232 6 142422613-142473109 bp (-) 142456333 Autosomal Recessive (1;4) potential candidate 2019-09-11
External Program
 30 min GTT hyperoglycemic (female)
T ⇒ C missense probably benign 0.001
3 UTSW
has video
Dst 0.392 1 33908225-34308661 bp (+) 34164167 Unknown (2;0)
 Autosomal Recessive (3;24)
potential candidate 2019-09-04
Anne Murray
 behavior/neurological
 DSS: resistant day 7
 FACS B1a cells in B1 cells - increased
 FACS CD11c+ DCs - increased
 TLR signaling defect: hypersensitivity to PAM3CSK4
 TLR signaling defect: hypersensitivity to R848
 TLR signaling defect: hyposensitivity to R848
 TLR signaling defect: TNF production by macrophages
A ⇒ G missense probably damaging 1.000
4 UTSW Prkcb 0.000 7 122288751-122634402 bp (+) 122424977 Autosomal Recessive (2;9)
 Autosomal Semidominant (1;4)
excellent candidate 2019-09-04
Diantha La Vine
 FACS CD8+ T cells - increased
 FACS T cells - increased
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
A ⇒ T missense probably damaging 1.000
5 UTSW Itgam 0.129 7 128062640-128118491 bp (+) 128081634 Autosomal Recessive (1;4) not good candidate (Recruited) 2019-09-04
Anne Murray
 FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
C ⇒ T missense probably damaging 1.000
6 UTSW Bach2 0.000 4 32238804-32586108 bp (+) 32563324 Autosomal Dominant (2;10)
 Autosomal Semidominant (1;12)
potential candidate 2019-09-04
Anne Murray
 FACS B1 cells - increased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
A ⇒ T missense probably damaging 1.000
7 UTSW Itk 0.158 11 46325150-46389515 bp (-) 46338099 Autosomal Recessive (19;163) excellent candidate 2019-09-04
Anne Murray
 FACS B cells - increased
 FACS B:T cells - increased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - increased
 FACS CD44+ T cells - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS IgD+ B cell percentage - increased
 FACS IgM+ B cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS T cells - decreased
 total IgE level - increased
A ⇒ C splice site probably null
8 UTSW
has photo
Rab27a 0.490 9 73044854-73097629 bp (+) 73084981 Autosomal Recessive (2;5) failed initial filter 2019-09-04
Anne Murray
 MCMV susceptibility
 pigmentation
 skin/coat/nails
T ⇒ C missense probably damaging 1.000
9 UTSW Ptpn6 0.589 6 124720707-124738714 bp (-) 124732435 Autosomal Recessive (15;116) excellent candidate 2019-09-04
Diantha La Vine
 FACS B cells - decreased
 FACS B1 cells - increased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T MFI - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
T ⇒ C missense probably damaging 1.000
10 UTSW Apbb2 0.000 5 66298703-66618784 bp (-) 66452250 Autosomal Semidominant (1;4) potential candidate 2019-09-04
Diantha La Vine
 30 min GTT hyperglycemic
 30 min GTT hyperglycemic (male)
A ⇒ T missense probably damaging 0.986
11 UTSW Tap2 0.160 17 34203527-34216321 bp (+) 34212354 Autosomal Recessive (6;61) excellent candidate 2019-09-04
Diantha La Vine
 FACS B:T cells - increased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - decreased
T ⇒ A missense probably damaging 0.989
12 UTSW
has photo
Oca2 0.283 7 56239760-56536518 bp (+) 56535968 Autosomal Recessive (1;3) failed initial filter 2019-09-04
Anne Murray
 pigmentation
 skin/coat/nails
T ⇒ A missense probably benign 0.002
13 UTSW Klf5 1.000 14 99298691-99315036 bp (+) 99302230 Autosomal Semidominant (2;13) excellent candidate 2019-09-04
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
C ⇒ T missense probably damaging 1.000
14 UTSW Traf3 1.000 12 111166370-111267153 bp (+) 111262036 Autosomal Recessive (2;12) excellent candidate 2019-09-04
Katherine Timer
 FACS naive CD8 T cells in CD8 T cells - decreased
 T-dependent humoral response defect- decreased antibody response to rSFV
T ⇒ G missense probably damaging 0.999
15 UTSW
has photo
Lyst 0.388 13 13590397-13778803 bp (+) 13708212 Autosomal Recessive (6;68) potential candidate 2019-09-04
Diantha La Vine
 FACS CD8a+ DCs (gated in CD11c+ cells) - increased
 FACS pDCs - increased
 LPS-induced Necroptosis - decreased
 Macrophage necroptosis: low
 MCMV susceptibility
 pigmentation
 skin/coat/nails
T ⇒ A critical splice donor site 2 bp probably null
16 UTSW Zeb1 0.915 18 5591860-5775467 bp (+) 5772455 Autosomal Recessive (1;3) failed initial filter 2019-09-04
Anne Murray
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
T ⇒ A missense probably damaging 0.998
17 UTSW Slc9a8 0.000 2 167421712-167477000 bp (+) 167451296 Autosomal Recessive (1;5) excellent candidate 2019-09-04
External Program
 DSS: sensitive day 7
T ⇒ A missense probably damaging 1.000
18 UTSW
has photo
Hps5 0.248 7 46760466-46796064 bp (-) 46783469 Autosomal Dominant (2;19)
 Autosomal Recessive (2;6)
not good candidate 2019-09-04
Diantha La Vine
 dsDNA induced type I IFN production - increased
 FACS CD11c+ DCs - decreased
 FACS IgM MFI - decreased
 impaired response to dsDNA- type I IFN production by macrophages
 pigmentation
 skin/coat/nails
A ⇒ G critical splice donor site 2 bp probably null
19 UTSW Jak3 0.735 8 71676296-71690575 bp (+) 71683377 Autosomal Recessive (27;207)
 Autosomal Semidominant (3;15)
excellent candidate 2019-09-04
Diantha La Vine
 125-03 Response - decreased
 FACS B cells - decreased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 FACS macrophages - increased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS neutrophils - increased
 FACS NK cells - decreased
 FACS T cells - decreased
 MCMV susceptibility
 OVA-specific IgE - increased
 post-MCMV FACS B cells - decreased
 post-MCMV FACS CD4:CD8 - increased
 post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased
 post-MCMV FACS IgD+ B cell percentage - decreased
 post-MCMV FACS IgM+ B cells - decreased
 post-MCMV FACS naive CD4 T cells in CD4 T cells - decreased
 post-MCMV FACS naive CD8 T cells in CD8 T cells - decreased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 total IgE level - increased
A ⇒ G missense probably damaging 1.000
20 UTSW Tnfsf13b 0.077 8 10006467-10039072 bp (+) 10031661 Autosomal Recessive (6;46)
 Autosomal Semidominant (9;97)
excellent candidate 2019-09-04
Diantha La Vine
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1a cells - increased
 FACS CD11c+ DCs - increased
 FACS CD4+ T cells - increased
 FACS CD8+ T cells - increased
 FACS IgD MFI - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM MFI - increased
 FACS IgM+ B cells - decreased
 FACS macrophages - increased
 FACS neutrophils - increased
 FACS T cells - increased
 T-dependent humoral response defect- decreased antibody response to rSFV
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
G ⇒ A splice site 5 bp probably null
21 UTSW Jak3 0.735 8 71676296-71690575 bp (+) 71686976 Autosomal Recessive (3;16)
 Autosomal Semidominant (1;5)
excellent candidate 2019-09-04
Diantha La Vine
 cellular phenotype
 FACS B:T cells - increased
 FACS B1b cells - decreased
 FACS CD8+ T cells - decreased
 FACS IgM+ B cells - increased
 hematopoietic system
C ⇒ T splice site 4 bp probably benign
22 UTSW Insr 0.841 8 3122061-3279617 bp (-) 3161770 Unknown (1;0)
 Autosomal Recessive (2;10)

 Autosomal Semidominant (1;2)
excellent candidate 2019-09-04
Diantha La Vine
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS neutrophils - increased
A ⇒ G missense probably damaging 1.000
23 UTSW Rac2 0.000 15 78559167-78572783 bp (-) 78564968 Autosomal Recessive (1;6) excellent candidate 2019-09-04
Anne Murray
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
T ⇒ C missense probably damaging 1.000
24 UTSW
has photo
Tshr 0.375 12 91384563-91549808 bp (+) 91538226 Unknown (1;0)
 Autosomal Recessive (2;12)
excellent candidate 2019-09-04
Bruce Beutler
 125-03 Response - increased
 Body Weight (Z-score) - decreased
 endocrine/exocrine gland
 growth/size
C ⇒ A nonsense probably null
25 UTSW Arnt2 1.000 7 84246278-84410176 bp (-) 84347530 Autosomal Dominant (2;2)
 Autosomal Semidominant (3;17)
excellent candidate 2019-09-04
External Program
 Body Weight - increased
 Body Weight (Female) - increased
 Body Weight (Male) - increased
 Body Weight (Z-score) - increased
 DSS: sensitive day 10
 growth/size
 NK cell response - decreased
 NK killing - decreased
G ⇒ A missense probably damaging 1.000
26 UTSW Tlr4 0.000 4 66827584-66930284 bp (+) 66833880 Autosomal Semidominant (3;15) excellent candidate 2019-09-04
Katherine Timer
 FACS B220 MFI - decreased
 NLRP3 inflammasome: low response
 TLR signaling defect: hyposensitivity to LPS
 TLR signaling defect: TNF production by macrophages
T ⇒ A splice site 14 bp probably null
27 UTSW Nlrp3 0.081 11 59541568-59566956 bp (+) 59565850 Autosomal Semidominant (1;3) failed initial filter 2019-09-04
Diantha La Vine
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: low response
A ⇒ G missense probably benign 0.017
28 UTSW
has video
Rorb 0.000 19 18930605-19111196 bp (-) 18955053 Autosomal Recessive (6;25) excellent candidate 2019-09-04
Anne Murray
 behavior/neurological
 Body Weight (DSS Male) - increased
 Body Weight (DSS) - increased
 limbs/digits/tail phenotype
 nervous system
A ⇒ G missense probably damaging 1.000
29 UTSW Dst 0.392 1 33908225-34308661 bp (+) 34223795 Autosomal Semidominant (1;1) failed initial filter 2019-09-04
Anne Murray
 behavior/neurological
 FACS B1a cells in B1 cells - increased
 FACS CD11c+ DCs - increased
 growth/size
T ⇒ A splice site 9 bp probably null
30 UTSW
has video
Scn8a 0.877 15 100869858-101045938 bp (+) 101035646 Unknown (1;0)
 Autosomal Recessive (1;5)
excellent candidate 2019-09-04
Anne Murray
 behavior/neurological
 Body Weight - decreased
 growth/size
A ⇒ G missense probably damaging 1.000
31 UTSW Adgrf5 0.000 17 43360451-43459557 bp (+) 43450983 Autosomal Recessive (1;5) not good candidate 2019-09-04
Diantha La Vine
 30 min GTT hyperglycemic
A ⇒ T missense probably damaging 0.957
32 UTSW Apbb2 0.000 5 66298703-66618784 bp (-) 66400255 Autosomal Recessive (1;3) failed initial filter 2019-09-04
External Program
 30 min GTT hyperglycemic
 30 min GTT hyperglycemic (male)
T ⇒ A missense probably damaging 0.996
33 UTSW Sell 0.000 1 164061982-164084181 bp (+) 164066201 Autosomal Dominant (1;4)
 Autosomal Recessive (7;45)
excellent candidate 2019-09-04
Peter Jurek
 FACS central memory CD4 T cells in CD4 T cells - decreased
 FACS central memory CD8 T cells in CD8 T cells - decreased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-dependent humoral response defect- decreased antibody response to rSFV
T ⇒ A unclassified 9 bp probably null
34 UTSW
has video
Slc26a4 0.000 12 31519827-31559969 bp (-) 31525568 Autosomal Recessive (1;2) failed initial filter 2019-09-04
Emre Turer
 behavior/neurological
 hearing/vestibular/ear
A ⇒ T nonsense probably null
35 UTSW
has photo
Pkd2 1.000 5 104459450-104505819 bp (+) 104486806 Unknown (1;0) failed initial filter 2019-09-04
Anne Murray
 renal/urinary system
T ⇒ A missense probably damaging 1.000
36 UTSW Sppl2a 0.097 2 126890391-126933235 bp (-) 126923594 Autosomal Recessive (1;5) excellent candidate 2019-09-04
Katherine Timer
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
A ⇒ G missense probably benign 0.002
37 UTSW Nr3c2 1.000 8 76899442-77245012 bp (+) 76908668 Autosomal Recessive (1;5) not good candidate 2019-09-04
Bruce Beutler
 Body Weight - decreased
 growth/size
A ⇒ G unclassified probably null
38 UTSW
has video
Dst 0.392 1 33908225-34308661 bp (+) 34165155 Unknown (1;0)
 Autosomal Dominant (1;1)

 Autosomal Recessive (4;14)
potential candidate 2019-09-04
Anne Murray
 behavior/neurological
 Body Weight - decreased
 FACS B1a cells in B1 cells - increased
 FACS CD11c+ DCs - increased
 growth/size
 TLR signaling defect: hypersensitivity to CpG + IFNg
T ⇒ C critical splice donor site 2 bp probably null
39 UTSW Nlrp3 0.081 11 59541568-59566956 bp (+) 59549531 Autosomal Dominant (1;9)
 Autosomal Semidominant (1;6)
excellent candidate 2019-09-04
Diantha La Vine
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: low response
A ⇒ G missense probably benign 0.190
40 UTSW
has photo
Tyr 0.266 7 87424771-87493512 bp (-) 87492706 Autosomal Recessive (1;3) failed initial filter 2019-09-04
Anne Murray
 pigmentation
 skin/coat/nails
C ⇒ A missense probably damaging 1.000
41 UTSW
has photohas video
Grm1 0.239 10 10686059-11082356 bp (-) 10741508 Autosomal Recessive (1;2) failed initial filter 2019-09-04
Diantha La Vine
 behavior/neurological
 growth/size
 life span-post-weaning/aging
 skeleton phenotype
G ⇒ T nonsense probably null
42 UTSW
has photo
Adamts20 0.190 15 94270163-94465418 bp (-) 94345990 Autosomal Recessive (1;1) failed initial filter 2019-09-04
Diantha La Vine
 pigmentation
 skin/coat/nails
A ⇒ T missense probably damaging 1.000
43 UTSW
has photo
Lyst 0.388 13 13590397-13778803 bp (+) 13647083 Autosomal Recessive (1;1) failed initial filter 2019-09-04
Diantha La Vine
 pigmentation
 skin/coat/nails
T ⇒ A nonsense probably null
44 UTSW Entpd5 0.000 12 84373857-84409029 bp (-) 84382295 Autosomal Recessive (9;42)
 Autosomal Semidominant (1;4)
excellent candidate 2019-09-04
External Program
 125-03 Response - increased
 Body Weight - decreased
 Body Weight (DSS) - decreased
 Body Weight (Female) - decreased
 Body Weight (Z-score) - decreased
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS B1 cells - increased
 FACS CD44+ CD8 MFI - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 growth/size
 TLR signaling defect: hypersensitivity to PAM3CSK4
G ⇒ A nonsense probably null
45 UTSW
has video
Syt2 0.149 1 134646677-134762593 bp (+) 134747620 Autosomal Recessive (1;3)
 Autosomal Semidominant (1;1)
failed initial filter 2019-09-04
Anne Murray
 behavior/neurological
 Body Weight - decreased
 growth/size
 lethality-postnatal
 nervous system
C ⇒ A missense probably damaging 0.998
46 UTSW Ciita 0.103 16 10480059-10528418 bp (+) 10513288 Autosomal Recessive (9;49)
 Autosomal Semidominant (1;4)
excellent candidate 2019-09-04
Anne Murray
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 post-MCMV FACS CD4:CD8 - decreased
 post-MCMV FACS CD8+ T cells in CD3+ T cells - increased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-dependent humoral response defect- decreased antibody response to rSFV
 TLR signaling defect: hypersensitivity to R848
 TLR signaling defect: TNF production by macrophages
G ⇒ A critical splice donor site 1 bp probably null
47 UTSW Lyn 0.000 4 3678115-3813122 bp (+) 3789908 Autosomal Dominant (2;6)
 Autosomal Recessive (1;4)

 Autosomal Semidominant (4;29)
excellent candidate 2019-09-04
Diantha La Vine
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B220 MFI - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 FACS neutrophils - decreased
 MCMV susceptibility
 post-MCMV FACS B:T cells - decreased
 post-MCMV FACS IgM+ B cells - decreased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T ⇒ A nonsense probably null
48 UTSW
has video
Myo6 0.000 9 80165031-80311729 bp (+) 80288217 Autosomal Recessive (4;15) potential candidate 2019-09-04
Anne Murray
 behavior/neurological
 dsDNA induced type I IFN production - increased
 hearing/vestibular/ear
 impaired response to dsDNA- type I IFN production by macrophages
G ⇒ A critical splice donor site 1 bp probably null
49 UTSW Rorc 0.867 3 94372794-94398276 bp (+) 94397302 Autosomal Recessive (1;8) excellent candidate 2019-09-04
Diantha La Vine
 T-dependent humoral response defect- decreased antibody response to rSFV
T ⇒ A nonsense probably null
50 UTSW Socs2 0.196 10 95385362-95417180 bp (-) 95413081 Autosomal Recessive (2;10) excellent candidate 2019-09-04
Bruce Beutler
 Body Weight - increased
 Body Weight (DSS Male) - increased
 growth/size
C ⇒ A nonsense probably null
51 UTSW Prkcb 0.000 7 122288751-122634402 bp (+) 122582449 Autosomal Semidominant (4;31) excellent candidate 2019-09-04
Diantha La Vine
 FACS B1 cells - decreased
 post-MCMV FACS B1a cells in B1 cells - decreased
 post-MCMV FACS B1b cells in B1 cells - increased
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
T ⇒ A missense probably damaging 1.000
52 UTSW Alms1 0.000 6 85587531-85702753 bp (+) 85621275 Unknown (2;0)
 Autosomal Recessive (2;10)

 Autosomal Semidominant (1;4)
excellent candidate 2019-09-04
External Program
 Body Weight - increased
 Body Weight (Female) - increased
 Body Weight (Male) - increased
 Body Weight (Z-score) - increased
 growth/size
C ⇒ T nonsense probably null
53 UTSW Lepr 0.000 4 101717404-101815352 bp (+) 101745645 Unknown (2;0)
 Autosomal Recessive (10;147)
excellent candidate 2019-09-04
Diantha La Vine
 adipose tissue
 Body Weight - increased
 Body Weight (DSS Female) - increased
 Body Weight (DSS Male) - increased
 Body Weight (DSS) - increased
 Body Weight (DSS, z-score) - increased
 Body Weight (Female) - increased
 Body Weight (Male) - increased
 Body Weight (Z-score) - increased
 FACS macrophages - increased
 growth/size
T ⇒ A missense possibly damaging 0.938
54 UTSW Tub 0.000 7 108950338-109034460 bp (+) 109020954 Unknown (1;0)
 Autosomal Recessive (8;39)
excellent candidate 2019-09-04
Bruce Beutler
 adipose tissue
 Body Weight - increased
 Body Weight (DSS Female) - increased
 Body Weight (DSS Male) - increased
 Body Weight (DSS) - increased
 Body Weight (DSS, z-score) - increased
 Body Weight (Z-score) - increased
 growth/size
C ⇒ T nonsense probably null
55 UTSW Nfkb2 0.650 19 46304737-46312090 bp (+) 46311626 Unknown (1;0)
 Autosomal Recessive (1;4)
not good candidate 2019-09-04
Diantha La Vine
 FACS B1a cells - increased
A ⇒ T missense possibly damaging 0.956
56 UTSW Mapk3 0.000 7 126759601-126765819 bp (+) 126763512 Autosomal Recessive (2;10) potential candidate 2019-09-04
Peter Jurek
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: low response
A ⇒ T nonsense probably null
57 UTSW Nlrp3 0.081 11 59541568-59566956 bp (+) 59548476 Autosomal Semidominant (2;11) excellent candidate 2019-09-04
Diantha La Vine
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: low response
T ⇒ A missense probably damaging 0.991
58 UTSW Gck 1.000 11 5900820-5950081 bp (-) 5902165 Autosomal Recessive (2;8)
 Autosomal Semidominant (1;4)
failed initial filter 2019-09-04
Katherine Timer
 30 min GTT hyperglycemic
 30 min GTT hyperoglycemic (female)
A ⇒ T missense probably damaging 1.000
59 UTSW Tnfsf13b 0.077 8 10006467-10039072 bp (+) 10031534 Autosomal Recessive (1;1)
 Autosomal Semidominant (1;5)
excellent candidate 2019-09-04
Diantha La Vine
 FACS B:T cells - decreased
 T-dependent humoral response defect- decreased antibody response to rSFV
T ⇒ C missense probably damaging 1.000
60 UTSW Irf7 0.000 7 141262706-141266481 bp (-) 141264022 Autosomal Recessive (1;4) not good candidate 2019-09-04
Anne Murray
 Nlrc4 inflammasome: high response
T ⇒ C missense probably damaging 0.992
61 UTSW Lyst 0.388 13 13590397-13778803 bp (+) 13757422 Autosomal Semidominant (2;11) potential candidate 2019-09-04
Diantha La Vine
 125-03 Response - decreased
 phagocytosis in PECs - increased
T ⇒ C missense probably benign 0.004
62 UTSW Lck 0.000 4 129548344-129573641 bp (-) 129558127 Autosomal Recessive (11;60)
 Autosomal Semidominant (2;8)
excellent candidate 2019-09-04
Katherine Timer
 DSS: resistant day 10
 DSS: sensitive day 7
 FACS B:T cells - increased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - increased
 FACS CD8+ T cells in CD3+ T cells - increased
 post-MCMV FACS CD4:CD8 - decreased
 post-MCMV FACS CD4+ T cells - decreased
 post-MCMV FACS CD4+ T cells in CD3+ T cells - decreased
 post-MCMV FACS CD8+ T cells in CD3+ T cells - increased
 post-MCMV FACS T cells - decreased
 T-dependent humoral response defect- decreased antibody response to rSFV
C ⇒ T missense probably damaging 1.000
63 UTSW Diaph1 0.000 18 37843601-37935476 bp (-) 37896093 Unknown (13;0)
 Autosomal Dominant (1;5)

 Autosomal Semidominant (8;34)
excellent candidate 2019-09-04
Diantha La Vine
 FACS B:T cells - increased
 FACS B1a cells in B1 cells - decreased
 FACS CD4+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - increased
 FACS CD44+ T cells - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS T cells - decreased
 MCMV susceptibility
 OVA-specific IgE - decreased
 post-MCMV FACS CD4:CD8 - increased
 post-MCMV FACS CD4+ T cells in CD3+ T cells - increased
 post-MCMV FACS CD44+ CD4 MFI - decreased
 post-MCMV FACS CD44+ CD4 MFI - increased
 post-MCMV FACS CD44+ CD8 MFI - increased
 post-MCMV FACS CD44+ T MFI - increased
 post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased
 post-MCMV FACS central memory CD4 T cells in CD4 T cells - increased
 post-MCMV FACS central memory CD8 T cells in CD8 T cells - increased
 post-MCMV FACS effector memory CD4 T cells in CD4 T cells - increased
 post-MCMV FACS naive CD4 T cells in CD4 T cells - decreased
 post-MCMV FACS naive CD8 T cells in CD8 T cells - decreased
A ⇒ G critical splice donor site 2 bp probably null
64 UTSW Nos3 0.000 5 24364810-24384474 bp (+) 24372704 Autosomal Recessive (2;8) excellent candidate 2019-09-04
Diantha La Vine
 Blood Pressure: HR Average - decreased
 Blood Pressure: HR Day 3 - decreased
 Blood Pressure: MBP Average - increased
 Blood Pressure: MBP Day 2 - increased
 Blood Pressure: SBP Average - increased
 Blood Pressure: SBP Day 2 - increased
 Blood Pressure: SBP Day 3 - increased
 DSS: sensitive day 7
 T-independent B cell response defect- increased TNP-specific IgM to TNP-Ficoll immunization
C ⇒ T missense probably damaging 1.000
65 UTSW Fcer2a 0.000 8 3681737-3694175 bp (-) 3688796 Autosomal Recessive (4;25) potential candidate 2019-09-04
Bruce Beutler
 FACS CD11c+ DCs - increased
A ⇒ G critical splice donor site 2 bp probably null
66 UTSW Col3a1 0.867 1 45311538-45349706 bp (+) 45327866 Autosomal Recessive (2;7) excellent candidate 2019-09-04
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
A ⇒ T splice site 3 bp probably null
67 UTSW Grm7 0.000 6 110645581-111567230 bp (+) 111495791 Autosomal Recessive (1;2) failed initial filter 2019-09-04
Anne Murray
 behavior/neurological
 limbs/digits/tail phenotype
 nervous system
A ⇒ T nonsense probably null
68 UTSW Adamts20 0.190 15 94270163-94465418 bp (-) 94341087 Unknown (1;0) failed initial filter 2019-09-04
Diantha La Vine
 pigmentation
 skin/coat/nails
C ⇒ T missense probably damaging 0.999
69 UTSW Cd22 0.000 7 30865402-30880342 bp (-) 30869509 Unknown (1;0)
 Autosomal Dominant (5;11)

 Autosomal Recessive (4;14)


 Autosomal Semidominant (6;17)
excellent candidate 2019-09-04
Diantha La Vine
 FACS B cells - decreased
 FACS B1a cells - increased
 FACS B1a cells in B1 cells - increased
 FACS B1b cells in B1 cells - decreased
 FACS B2 cells - decreased
 FACS CD8a+ DCs (gated in CD11c+ cells) - decreased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 post-MCMV FACS B cells - decreased
 post-MCMV FACS B:T cells - decreased
 post-MCMV FACS B1a cells - increased
 post-MCMV FACS B1a cells in B1 cells - decreased
 post-MCMV FACS B2 cells - decreased
 post-MCMV FACS IgD+ B cell percentage - decreased
 post-MCMV FACS IgM+ B cells - decreased
C ⇒ A critical splice donor site 1 bp probably null
70 UTSW
has video
Grid2 0.000 6 63255876-64704323 bp (+) 64429694 Autosomal Recessive (2;5) potential candidate 2019-09-04
Anne Murray
 behavior/neurological
 growth/size
 MCMV susceptibility
 nervous system
T ⇒ A nonsense probably null
71 UTSW Mc4r 0.100 18 66857715-66860472 bp (-) 66859847 Unknown (2;0)
 Autosomal Recessive (5;32)
excellent candidate 2019-09-04
Diantha La Vine
 adipose tissue
 Body Weight - increased
 Body Weight (DSS) - increased
 Body Weight (DSS, z-score) - increased
 Body Weight (Z-score) - increased
 growth/size
A ⇒ T missense probably damaging 0.999
72 UTSW Hr 0.000 14 70552212-70573548 bp (+) 70571448 Autosomal Recessive (1;4) potential candidate 2019-09-04
Diantha La Vine
 Body Weight (DSS Male) - decreased
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1a cells - increased
 FACS B1a cells in B1 cells - decreased
 FACS B1b cells - increased
 FACS B1b cells in B1 cells - increased
 FACS B2 cells - decreased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - decreased
 FACS CD44+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS IgD+ B cell percentage - decreased
 FACS IgM MFI - increased
 FACS IgM+ B cells - decreased
 FACS macrophages - increased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS neutrophils - increased
 FACS T cells - decreased
 skin/coat/nails
G ⇒ A missense probably damaging 1.000
73 UTSW Gk5 0.000 9 96119362-96184608 bp (+) 96150797 Autosomal Recessive (6;25) excellent candidate 2019-09-04
Anne Murray
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - increased
 FACS CD44+ T cells - increased
 FACS CD44+ T MFI - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 skin/coat/nails
G ⇒ A critical splice donor site 1 bp probably null
74 UTSW Lyst 0.388 13 13590397-13778803 bp (+) 13740536 Autosomal Recessive (1;5) potential candidate 2019-09-04
Diantha La Vine
 MCMV susceptibility
T ⇒ C missense possibly damaging 0.908
75 UTSW
has photo
Ksr2 0.125 5 117414000-117775003 bp (+) 117671449 Unknown (1;0)
 Autosomal Recessive (3;14)
excellent candidate 2019-09-04
Anne Murray
 Body Weight (Female) - increased
 growth/size
 impaired response to dsDNA- type I IFN production by macrophages
T ⇒ A missense probably damaging 0.994
76 UTSW Rhbdf2 0.000 11 116598165-116627019 bp (-) 116600191 Autosomal Semidominant (7;57) excellent candidate 2019-09-04
Katherine Timer
 125-03 Response - decreased
 TLR signaling defect: hyposensitivity to LPS
 TLR signaling defect: hyposensitivity to PAM3CSK4
 TLR signaling defect: hyposensitivity to R848
 TLR signaling defect: TNF production by macrophages
A ⇒ T missense possibly damaging 0.936
77 UTSW
has photo
Adamts20 0.190 15 94270163-94465418 bp (-) 94331458 Autosomal Recessive (1;1)
 Autosomal Semidominant (1;4)
good candidate 2019-09-04
Diantha La Vine
 pigmentation
 skin/coat/nails
 T-dependent humoral response defect- increased antibody response to OVA+ alum immunization
A ⇒ C missense probably damaging 1.000
78 UTSW Atp2b2 0.828 6 113743831-114042613 bp (-) 113760650 Autosomal Recessive (2;6) excellent candidate 2019-09-04
Diantha La Vine
 behavior/neurological
 Body Weight - decreased
 hearing/vestibular/ear
A ⇒ G missense probably damaging 1.000
79 UTSW Ccr7 0.162 11 99144196-99155077 bp (-) 99145277 Autosomal Recessive (3;14)
 Autosomal Semidominant (1;5)
potential candidate 2019-09-04
Bruce Beutler
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - increased
 FACS macrophages - decreased
 FACS T cells - increased
A ⇒ T missense possibly damaging 0.899
80 UTSW Cd40 0.000 2 165055627-165072948 bp (+) 165062301 Autosomal Recessive (2;12)
 Autosomal Semidominant (1;3)
excellent candidate 2019-09-04
Katherine Timer
 OVA-specific IgE - increased
 ratio of OVA-specific IgE over the total IgE - increased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-dependent humoral response defect- decreased antibody response to rSFV
T ⇒ C missense probably benign 0.226
81 UTSW Jak3 0.735 8 71676296-71690575 bp (+) 71685383 Autosomal Recessive (30;309)
 Autosomal Semidominant (1;4)
excellent candidate 2019-09-04
Diantha La Vine
 Body Weight (DSS Female) - decreased
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - decreased
 FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
 FACS CD11c+ DCs - increased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - decreased
 FACS CD44+ CD4 T cells - decreased
 FACS CD44+ T cells - decreased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS CD8a+ DCs (gated in CD11c+ cells) - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 FACS macrophages - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS NK cells - decreased
 FACS NK T cells - decreased
 FACS T cells - decreased
 IgG1 response to a Cysteine Protease (Papain) - decreased
 impaired response to dsDNA- type I IFN production by macrophages
 ratio of OVA-specific IgE over the total IgE - increased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-dependent humoral response defect- decreased antibody response to rSFV
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
 total IgE level - decreased
A ⇒ T critical splice acceptor site probably null
82 UTSW Rims4 0.110 2 163859751-163918683 bp (-) 163864865 Autosomal Recessive (3;20) excellent candidate 2019-09-04
Anne Murray
 Body Weight - decreased
 Body Weight (Male) - decreased
 Body Weight (Z-score) - decreased
 growth/size
C ⇒ T critical splice donor site probably null
83 UTSW Tlr3 0.108 8 45395665-45411080 bp (-) 45397697 Autosomal Dominant (1;4) not good candidate 2019-09-04
Katherine Timer
 TLR signaling defect: hyposensitivity to poly I:C
 TLR signaling defect: TNF production by macrophages
A ⇒ G missense probably benign 0.084
84 UTSW Nedd9 0.000 13 41309581-41487362 bp (-) 41338979 Autosomal Recessive (5;29) excellent candidate 2019-09-04
External Program
 FACS B1a cells in B1 cells - decreased
 MCMV susceptibility
 post-MCMV FACS B1a cells in B1 cells - decreased
 post-MCMV FACS B1b cells in B1 cells - increased
A ⇒ T nonsense probably null
85 UTSW Card11 0.000 5 140872990-141000582 bp (-) 140906767 Autosomal Recessive (1;7) not good candidate 2019-09-04
Diantha La Vine
 FACS B1a cells - increased
T ⇒ C missense probably damaging 0.959
86 UTSW Dock2 0.000 11 34226815-34783892 bp (-) 34708793 Autosomal Recessive (5;24) excellent candidate 2019-09-04
Diantha La Vine
 FACS B1b cells in B1 cells - increased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - increased
T ⇒ C missense probably damaging 1.000
87 UTSW Nlrc4 0.132 17 74426295-74459108 bp (-) 74445630 Autosomal Semidominant (1;3) failed initial filter 2019-09-04
Peter Jurek
 Nlrc4 inflammasome: low response
A ⇒ G missense probably damaging 0.999
88 UTSW Tap1 0.000 17 34187553-34197225 bp (+) 34194941 Autosomal Dominant (2;9)
 Autosomal Recessive (6;35)

 Autosomal Semidominant (1;6)
potential candidate 2019-09-04
Diantha La Vine
 FACS CD4:CD8 - increased
 MCMV susceptibility
 post-MCMV FACS CD4:CD8 - increased
 post-MCMV FACS CD4+ T cells - decreased
 post-MCMV FACS CD44+ CD8 T cells - decreased
 post-MCMV FACS CD44+ T cells - decreased
 post-MCMV FACS CD8+ T cells - decreased
 post-MCMV FACS IgM+ B cells - decreased
 post-MCMV FACS T cells - decreased
T ⇒ G missense probably damaging 1.000
89 UTSW Ikbkb 1.000 8 22659212-22706589 bp (-) 22666020 Autosomal Recessive (1;4)
 Autosomal Semidominant (4;17)
excellent candidate 2019-09-04
Diantha La Vine
 IgG1 response to a Cysteine Protease (Papain) - decreased
 MCMV susceptibility
 post-MCMV FACS B1a cells in B1 cells - decreased
 post-MCMV FACS B1b cells in B1 cells - increased
 post-MCMV FACS CD44+ CD4 MFI - decreased
 post-MCMV FACS CD44+ CD8 MFI - decreased
 post-MCMV FACS CD44+ CD8 T cells - decreased
 post-MCMV FACS CD44+ T MFI - decreased
 post-MCMV FACS CD8a+ DCs (gated in CD11c+ cells) - increased
 post-MCMV FACS effector memory CD4 T cells in CD4 T cells - decreased
 post-MCMV FACS effector memory CD8 T cells in CD8 T cells - decreased
 TLR signaling defect: hyposensitivity to MALP2
A ⇒ G missense probably damaging 1.000
90 UTSW Cacna2d2 0.905 9 107399612-107529343 bp (+) 107513280 Autosomal Recessive (2;15) potential candidate 2019-09-04
Diantha La Vine
 Body Weight - decreased
 Body Weight (Male) - decreased
 growth/size
T ⇒ C missense probably damaging 0.999
91 UTSW Kbtbd2 0.000 6 56777524-56797813 bp (-) 56779090 Autosomal Recessive (6;36) excellent candidate 2019-09-04
Anne Murray
 30 min GTT hyperglycemic
 Body Weight - decreased
 Body Weight (Male) - decreased
 Body Weight (Z-score) - decreased
 growth/size
 MCMV susceptibility
A ⇒ G missense probably damaging 0.996
92 UTSW Dck 0.000 5 88764996-88783281 bp (+) 88772723 Autosomal Recessive (19;119) excellent candidate 2019-09-04
External Program
 Body Weight - decreased
 Body Weight (Z-score) - decreased
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1a cells - increased
 FACS B1b cells - increased
 FACS B2 cells - decreased
 FACS B220 MFI - decreased
 FACS CD11c+ DCs - increased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T cells - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS CD8a+ DCs (gated in CD11c+ cells) - increased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS IgD MFI - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 FACS macrophages - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS neutrophils - increased
 FACS NK cells - increased
 OVA-specific IgE - increased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-dependent humoral response defect- decreased antibody response to rSFV
 total IgE level - increased
T ⇒ C missense probably damaging 1.000
93 UTSW Atp7b 0.828 8 21992785-22060305 bp (-) 21998266 Unknown (1;0) failed initial filter 2019-09-04
Anne Murray
 liver/biliary system
 MTT Value of PECs - decreased
T ⇒ G missense probably damaging 1.000
94 UTSW Pax1 0.511 2 147361925-147393295 bp (+) 147365802 Unknown (1;0)
 Autosomal Semidominant (1;4)
excellent candidate 2019-09-04
Anne Murray
 Body Weight (DSS Female) - decreased
 limbs/digits/tail phenotype
T ⇒ A missense probably damaging 1.000
95 UTSW Rims4 0.110 2 163859751-163918683 bp (-) 163864120 Autosomal Recessive (2;10) good candidate 2019-09-04
Anne Murray
 Body Weight - decreased
 Body Weight (Female) - decreased
 growth/size
A ⇒ T missense probably damaging 0.994
96 UTSW Fasl 0.499 1 161780689-161788495 bp (-) 161787138 Autosomal Recessive (1;6) potential candidate 2019-09-04
Anne Murray
 T-dependent humoral response defect- decreased antibody response to rSFV
T ⇒ G missense probably benign 0.001
97 UTSW Pappa2 0.000 1 158711727-158980490 bp (-) 158716990 Unknown (2;0)
 Autosomal Semidominant (3;18)
excellent candidate 2019-09-04
Diantha La Vine
 Body Weight - decreased
 Body Weight (Male) - decreased
 Body Weight (Z-score) - decreased
 growth/size
C ⇒ A missense probably damaging 1.000
98 UTSW Pparg 1.000 6 115360951-115490399 bp (+) 115451044 Unknown failed initial filter 2019-09-04
Anne Murray
 growth/size
G ⇒ T missense probably damaging 1.000
99 UTSW Cd22 0.000 7 30865402-30880342 bp (-) 30870105 Autosomal Recessive (7;42) excellent candidate 2019-09-04
Diantha La Vine
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1a cells - increased
 FACS B1a cells in B1 cells - increased
 FACS B2 cells - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
C ⇒ T missense probably damaging 1.000
100 UTSW Irf9 0.159 14 55603571-55610030 bp (+) 55605910 Autosomal Recessive (1;7)
 Autosomal Semidominant (4;20)
good candidate 2019-09-04
Katherine Timer
 dsDNA induced type I IFN production - increased
 IgE response to a Cysteine Protease (Papain) - decreased
 impaired response to dsDNA- type I IFN production by macrophages
 LPS-induced Necroptosis - decreased
 Macrophage necroptosis: low
T ⇒ C splice site 6 bp probably null
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