Individual #00000209

ID_report -
Reference PubMed: Sun 2011, Journal: Sun 2011
Remarks -
Gender M
Consanguinity no
Country Netherlands
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases CHTE
Owner name Yu Sun


Phenotypes

Hypothyroidism, central, testicular enlargement (CHTE) (CHTE)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000038984 central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) - - Familial, X-linked recessive - 07y04m - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000210 DNA SEQ-NG-I - - - 6404 Yu Sun



Variants

6404 entries on 65 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »

Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
1 Both (homozygous) ?/. - VUS g.930567A>G g.995187A>G - - chr1_000223 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.943250C>T g.1007870C>T - - chr1_000224 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.943468T>C g.1008088T>C - - chr1_000226 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.943687G>C g.1008307G>C - - chr1_000185 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.943907C>G g.1008527C>G - - chr1_000187 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.2791953C>T g.2875388C>T - - chr1_000348 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.2792115C>T g.2875550C>T - - chr1_000333 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.2898004_2898005insT g.2981440_2981441insT - - chr1_000425 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.2938265C>T g.3021701C>T - - ACTRT2_000001 - - - - Germline - - - - - Yu Sun ACTRT2 - - - - - - NM_080431.4:c.15C>T - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.2938407_2938409del g.3021843_3021845del - - ACTRT2_000004 - - - - Germline - - - - - Yu Sun ACTRT2 - - - - - - NM_080431.4:c.157_159del - r.(?) p.(Gln53del) - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.2938697T>G g.3022133T>G - - ACTRT2_000003 - - - - Germline - - - - - Yu Sun ACTRT2 - - - - - - NM_080431.4:c.447T>G - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.3052501C>T g.3135937C>T - - PRDM16_000001 - - - - Germline - - - - - Yu Sun PRDM16 - - - - - - NM_022114.3:c.38-50188C>T - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.3212193A>G g.3295629A>G - - PRDM16_000002 - - - - Germline - - - - - Yu Sun PRDM16 - - - - - - NM_022114.3:c.438+51492A>G - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.7022812C>G g.6962752C>G - - CAMTA1_000003 - - - - Germline - - - - - Yu Sun CAMTA1 - - - - - - NM_015215.2:c.235-128552C>G - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.7103437_7103438insAG g.7043377_7043378insAG - - CAMTA1_000004 - - - - Germline - - - - - Yu Sun CAMTA1 - - - - - - NM_015215.2:c.235-47927_235-47926insAG - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.7595125G>A g.7535065G>A - - CAMTA1_000001 - - - - Germline - - - - - Yu Sun CAMTA1 - - - - - - NM_015215.2:c.510+67164G>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.7595233G>A g.7535173G>A - - CAMTA1_000002 - - - - Germline - - - - - Yu Sun CAMTA1 - - - - - - NM_015215.2:c.510+67272G>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.9285639G>T g.9225580G>T - - chr1_000354 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.9379361A>G g.9319302A>G - - SPSB1_000001 - - - - Germline - - - - - Yu Sun SPSB1 - - - - - - NM_025106.3:c.-150+26231A>G - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) -?/. - likely benign g.10631455C>G g.10571398C>G - - PEX14_000004 - - - - Germline - - - 0 - Yu Sun PEX14 - - - - - 3i NM_004565.2:c.170-27840C>G - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.11293147C>T g.11233090C>T - - MTOR_000001 - - - - Germline - - - - - Yu Sun MTOR - - - - - - NM_004958.3:c.2421+308G>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.11293200C>T g.11233143C>T - - MTOR_000003 - - - - Germline - - - - - Yu Sun MTOR - - - - - - NM_004958.3:c.2421+255G>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.11391123A>G g.11331066A>G - - chr1_000089 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.11399345C>T g.11339288C>T - - chr1_000350 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.12829893_12829894insAATGAATCA - - - chr1_000420 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.14276473G>A g.13949978G>A - - chr1_000313 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.16929327C>T g.16602832C>T - - NBPF1_000001 - - - - Germline - - - - - Yu Sun NBPF1 - - - - - - NM_017940.3:c.-467+5676G>A - - p.(=) - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.17009604T>G g.16683109T>G - - chr1_000203 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.17011843del g.16685348del - - chr1_000381 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.17012241G>T g.16685746G>T - - chr1_000075 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.17012761C>G g.16686266C>G - - chr1_000078 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.17632209G>C g.17305714G>C - - chr1_000375 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.17632237A>G g.17305742A>G - - chr1_000281 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.17809846A>T g.17483350A>T - - chr1_000373 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.18144014T>C g.17817519T>C - - ACTL8_000001 - - - - Germline - - - - - Yu Sun ACTL8 - - - - - - NM_030812.2:c.-24-5466T>C - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.19839475A>G g.19512981A>G - - chr1_000200 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.20421129G>A g.20094636G>A - - chr1_000068 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.21755347C>T g.21428854C>T - - chr1_000228 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.22608535A>G g.22282042A>G - - chr1_000246 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.22656863T>G g.22330370T>G - - chr1_000017 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.24389213T>G g.24062723T>G - - MYOM3_000001 - - - - Germline - - - - - Yu Sun MYOM3 - - - - - - NM_152372.3:c.3770+403A>C - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.24389509_24389510del g.24063019_24063020del - - MYOM3_000002 - - - - Germline - - - - - Yu Sun MYOM3 - - - - - - NM_152372.3:c.3770+107_3770+108del - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.24859617G>A g.24533127G>A - - RCAN3_000001 - - - - Germline - - - - - Yu Sun RCAN3 - - - - - - NM_001251977.1:c.414G>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.26215316C>T g.25888825C>T - - STMN1_000001 - - - - Germline - - - - - Yu Sun STMN1 - - - - - - NM_001145454.1:c.379-2956G>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.26370267C>T g.26043776C>T - - SLC30A2_000001 - - - - Germline - - - - - Yu Sun SLC30A2 - - - - - - NM_032513.3:c.272-225G>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.27652359G>A g.27325868G>A - - TMEM222_000001 - - - - Germline - - - - - Yu Sun TMEM222 - - - - - - NM_032125.2:c.194+3477G>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.28353283dup g.28026772dup - - EYA3_000001 - - - - Germline - - - - - Yu Sun EYA3 - - - - - - NM_001990.3:c.499+1028dup - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.30371898_30371899insA g.29899051_29899052insA - - chr1_000411 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.30380166C>T g.29907319C>T - - chr1_000347 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.30717099_30717100del g.30244252_30244253del - - chr1_000407 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.33909014G>C g.33443413G>C - - chr1_000335 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.33909051C>T g.33443450C>T - - chr1_000219 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.34589132dup g.34123531dup - - CSMD2_000001 - - - - Germline - - - - - Yu Sun CSMD2 - - - - - - NM_052896.3:c.68-34330dup - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.36622730T>C g.36157129T>C - - MAP7D1_000001 - - - - Germline - - - - - Yu Sun MAP7D1 - - - - - - NM_018067.3:c.46+666T>C - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.37280827C>T g.36815226C>T - - GRIK3_000003 - - - - Germline - - - - - Yu Sun GRIK3 - - - - - - NM_000831.3:c.2091+1834G>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.37417161C>T g.36951560C>T - - GRIK3_000001 - - - - Germline - - - - - Yu Sun GRIK3 - - - - - - NM_000831.3:c.116-60464G>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.38010751C>T g.37545150C>T - - SNIP1_000002 - - - - Germline - - - - - Yu Sun SNIP1 - - - - - - NM_024700.3:c.328-4395G>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.38569023G>A g.38103351G>A - - chr1_000012 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.38569185_38569186insCGTGC g.38103513_38103514insCGTGC - - chr1_000427 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.38591115C>T g.38125443C>T - - chr1_000015 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.39992537G>A g.39526865G>A - - BMP8A_000001 - - - - Germline - - - - - Yu Sun BMP8A, PPIEL - - - - - - NM_181809.3:c.*1067G>A, NR_003929.2:n.2411+2190C>T - r.(=) p.(=), - - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.41730151G>T g.41264479G>T - - chr1_000315 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.41730196T>G g.41264524T>G - - chr1_000058 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.41730684del g.41265012del - - chr1_000384 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.42965463dup g.42499792dup - - chr1_000424 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.42965630T>G g.42499959T>G - - chr1_000138 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.42966037T>C g.42500366T>C - - chr1_000140 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.42966090del g.42500419del - - chr1_000403 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.44209511del g.43743840del - - ST3GAL3_000002 - - - - Germline - - - - - Yu Sun ST3GAL3 - - - - - - NM_174963.3:c.163+7415del - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.44922633G>A g.44456961G>A - - RNF220_000002 - - - - Germline - - - - - Yu Sun RNF220 - - - - - - NM_018150.2:c.625+44239G>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.46570623del g.46104951del - - PIK3R3_000006 - - - - Germline - - - - - Yu Sun PIK3R3 - - - - - - NM_003629.3:c.107-24201del - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.46570812G>T g.46105140G>T - - PIK3R3_000002 - - - - Germline - - - - - Yu Sun PIK3R3 - - - - - - NM_003629.3:c.107-24390C>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.46571509T>A g.46105837T>A - - PIK3R3_000003 - - - - Germline - - - - - Yu Sun PIK3R3 - - - - - - NM_003629.3:c.107-25087A>T - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.46571684C>A g.46106012C>A - - PIK3R3_000005 - - - - Germline - - - - - Yu Sun PIK3R3 - - - - - - NM_003629.3:c.107-25262G>T - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.49179703A>C g.48714031A>C - - AGBL4_000001 - - - - Germline - - - - - Yu Sun AGBL4 - - - - - - NM_032785.3:c.635-50790T>G - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.54001983A>G g.53536310A>G - - GLIS1_000001 - - - - Germline - - - - - Yu Sun GLIS1 - - - - - - NM_147193.2:c.796-6358T>C - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.54051390A>T g.53585717A>T - - GLIS1_000003 - - - - Germline - - - - - Yu Sun GLIS1 - - - - - - NM_147193.2:c.795+8391T>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.55003579G>A g.54537906G>A - - chr1_000279 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.56846589C>T g.56380917C>T - - chr1_000196 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.57664690G>A g.57199017G>A - - DAB1_000005 - - - - Germline - - - - - Yu Sun DAB1 - - - - - - NM_021080.3:c.68-53588C>T - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.57779573A>G g.57313901A>G - - DAB1_000004 - - - - Germline - - - - - Yu Sun DAB1 - - - - - - NM_021080.3:c.-136-22735T>C - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.58521721del g.58056049del - - DAB1_000006 - - - - Germline - - - - - Yu Sun DAB1 - - - - - - NM_021080.3:c.-374-171887del - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.58522420T>G g.58056748T>G - - DAB1_000002 - - - - Germline - - - - - Yu Sun DAB1 - - - - - - NM_021080.3:c.-374-172586A>C - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.62087091A>G g.61621419A>G - - chr1_000301 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.64551422C>A g.64085750T>A - - ROR1_000001 - - - - Germline - - - - - Yu Sun ROR1 - - - - - - NM_001083592.1:c.482+35034C>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - likely benign g.77661175T>C g.77195490T>C - - PIGK_000001 - - - - Germline - - - - - Yu Sun PIGK - - - - - - NM_005482.2:c.239+11150A>G - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.77765794T>C g.77300109T>C - - AK5_000001 - - - - Germline - - - - - Yu Sun AK5 - - - - - - NM_174858.2:c.699+2162T>C - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.78240117T>C g.77774432T>C - - chr1_000197 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.80916795T>C g.80451110T>C - - chr1_000271 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.80916878A>T g.80451193A>T - - chr1_000265 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.86968058C>T g.86502375C>T - - chr1_000338 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.86968131C>G g.86502448C>G - - chr1_000173 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.86971813C>T g.86506130C>T - - chr1_000062 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.86974034C>A g.86508351C>A - - chr1_000064 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.86974115C>T g.86508432C>T - - chr1_000066 - - - - Germline - - - - - Yu Sun - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.89447978T>A g.88982295T>A - - CCBL2_000001 - - - - Germline - - - - - Yu Sun CCBL2, RBMXL1 - - - - - - NM_001008661.2:c.99+5957A>T, NM_019610.5:c.*359A>T - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.90458851T>C g.89993292T>C - - GEMIN8P4_000001 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Germline - - - - - Yu Sun GEMIN8P4 - - - - - - NR_002830.1:n.1675A>G - r.(?) p.? - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.90459744A>G g.89994185A>G - - GEMIN8P4_000003 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Germline - - - - - Yu Sun GEMIN8P4 - - - - - - NR_002830.1:n.782T>C - r.(?) p.? - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.90459747G>A g.89994188G>A - - GEMIN8P4_000005 - - - - Germline - - - - - Yu Sun GEMIN8P4 - - - - - - NR_002830.1:n.779C>T - r.(?) p.? - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.90459982G>A g.89994423G>A - - GEMIN8P4_000007 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Germline - - - - - Yu Sun GEMIN8P4 - - - - - - NR_002830.1:n.544C>T - r.(?) p.? - - - - - - - - - - - - - - - - - - - -
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