ALK |
{Neuroblastoma, susceptibility to, 3}, 613014 (3) |
DIS3L2 |
Perlman syndrome, 267000 (3) |
EPCAM |
Diarrhea 5, with tufting enteropathy, congenital, 613217 (3) Colorectal cancer, hereditary nonpolyposis, type 8, 613244 (3) |
MLPH |
Griscelli syndrome, type 3, 609227 (3) |
MSH6 |
Mismatch repair cancer syndrome, 276300 (3) Endometrial cancer, familial, 608089 (3) Colorectal cancer, hereditary nonpolyposis, type 5, 614350 (3) |
TMEM127 |
{Pheochromocytoma, susceptibility to}, 171300 (3) |
ALK |
Neuroblastoma, susceptibility to, 3 |
DIS3L2 |
Perlman syndrome |
EPCAM |
Diarrhea 5, with tufting enteropathy, congenital Colorectal cancer, hereditary nonpolyposis, type 8 |
FANCL |
Fanconi anemia type L |
MLPH |
Griscelli syndrome, type 3 |
MSH6 |
Endometrial cancer Mismatch repair cancer syndrome Colorectal cancer, hereditary nonpolyposis type 5 |
TMEM127 |
Pheochromocytoma |
Number of Variants: 26
Number of Genes: 7
Omim - GeneCards - NCBI | |||||||||||||||||||||||||
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1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | pc751_s1 | 2 | rs1364054
dbSNP |
8178735 | 2016.15 | A | G | PASS | 1/1 | 81 | None | None | None | 0.48822 | 0.48820 | 0.41036 | None None | None None None None | None | ||||||
View | pc751_s1 | 2 | rs7584993
dbSNP |
223845942 | 2025.66 | C | A | PASS | 1/1 | 82 | None | None | None | 0.60184 | 0.60180 | None None | None None None None | None | |||||||
View | pc751_s1 | 2 | rs13016963
dbSNP |
202162811 | 2647.83 | A | G | PASS | 1/1 | 109 | None | None | None | 0.63818 | 0.63820 | None None | None None None None | None | |||||||
View | pc751_s1 | 2 | rs2072590
dbSNP |
177042633 | 2306.55 | A | C | PASS | 1/1 | 99 | None | None | None | 0.81749 | 0.81750 | None None | None None None None | None | |||||||
FANCL |
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | pc751_s1 | 2 | rs848291
dbSNP |
58388696 | 2738.19 | A | G | PASS | 1/1 | 108 | SYNONYMOUS_CODING | LOW | SILENT | 0.70647 | 0.70650 | 0.29591 | None None | None None None None | None | ||||||
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | pc751_s1 | 2 | rs7579899
dbSNP |
46537604 | 2676.9 | A | G | PASS | 1/1 | 109 | None | None | None | 0.42572 | 0.42570 | None None | None None None None | None | |||||||
View | pc751_s1 | 2 | rs1465618
dbSNP |
43553949 | 2516.94 | T | C | PASS | 1/1 | 96 | None | None | None | 0.70487 | 0.70490 | None None | None None None None | None | |||||||
ALK |
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | pc751_s1 | 2 | rs4358080
dbSNP |
30143499 | 2626.07 | G | C | PASS | 1/1 | 86 | SYNONYMOUS_CODING | LOW | SILENT | 0.89377 | 0.89380 | 0.09071 | None None | None None None None | None | ||||||
View | pc751_s1 | 2 | rs2246745
dbSNP |
29940529 | 2024.66 | A | T | PASS | 1/1 | 83 | SYNONYMOUS_CODING | LOW | SILENT | 0.58926 | 0.58930 | 0.37298 | None None | None None None None | None | ||||||
View | pc751_s1 | 2 | rs2256740
dbSNP |
29455267 | 1730.0 | A | G | PASS | 1/1 | 60 | SYNONYMOUS_CODING | LOW | SILENT | 0.50000 | 0.50000 | 0.33861 | None None | None None None None | None | ||||||
View | pc751_s1 | 2 | rs1670283
dbSNP |
29416572 | 1773.94 | T | C | PASS | 1/1 | 68 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.99221 | 0.99220 | 0.00969 | 0.71 | 0.00 | None None | None None None None | None | ||||
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | pc751_s1 | 2 | rs6734275
dbSNP |
67241174 | 927.56 | G | A | PASS | 0/1 | 90 | None | None | None | 0.40316 | 0.40320 | None None | None None None None | None | |||||||
View | pc751_s1 | 2 | rs1432295
dbSNP |
61066666 | 1101.91 | G | A | PASS | 0/1 | 107 | None | None | None | 0.82129 | 0.82130 | None None | None None None None | None | |||||||
MLPH |
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | pc751_s1 | 2 | rs2292884
dbSNP |
238443226 | 671.36 | A | G | PASS | 0/1 | 84 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.37141 | 0.37140 | 0.36076 | 1.00 | 0.00 | None None | None None None None | None | ||||
MSH6 |
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | pc751_s1 | 2 | rs1800935
dbSNP |
48023115 | 1067.08 | T | C | PASS | 0/1 | 93 | SYNONYMOUS_CODING | LOW | SILENT | 0.13518 | 0.13520 | 0.25065 | None None | None None None None | None | ||||||
View | pc751_s1 | 2 | rs1800932
dbSNP |
48018081 | 2134.25 | A | G | PASS | 0/1 | 158 | SYNONYMOUS_CODING | LOW | SILENT | 0.08666 | 0.08666 | 0.16523 | None None | None None None None | None | ||||||
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | pc751_s1 | 2 | rs7584330
dbSNP |
238387228 | 1752.76 | A | G | PASS | 0/1 | 159 | None | None | None | 0.40655 | 0.40650 | None None | None None None None | None | |||||||
DIS3L2 |
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | pc751_s1 | 2 | rs3811578
dbSNP |
233201328 | 244.19 | A | G | PASS | 0/1 | 25 | SYNONYMOUS_CODING | LOW | SILENT | 0.20208 | 0.20210 | 0.09947 | None None | None None None None | None | ||||||
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | pc751_s1 | 2 | rs13397985
dbSNP |
231091223 | 1391.58 | T | G | PASS | 0/1 | 131 | None | None | None | 0.10643 | 0.10640 | None None | None None None None | None | |||||||
MSH6 |
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | pc751_s1 | 2 | rs1042820
dbSNP |
48010558 | 84.6 | C | A | SB | 0/1 | 18 | SYNONYMOUS_CODING | LOW | SILENT | 0.06909 | 0.06909 | 0.11665 | None None | None None None None | None | ||||||
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | pc751_s1 | 2 | rs966423
dbSNP |
218310340 | 1163.53 | C | T | PASS | 0/1 | 128 | None | None | None | 0.29133 | 0.29130 | None None | None None None None | None | |||||||
View | pc751_s1 | 2 | rs6435862
dbSNP |
215672546 | 736.09 | G | T | PASS | 0/1 | 63 | None | None | None | 0.76877 | 0.76880 | None None | None None None None | None | |||||||
EPCAM |
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | pc751_s1 | 2 | rs1126497
dbSNP |
47601106 | 363.75 | T | C | PASS | 0/1 | 25 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.66613 | 0.66610 | 0.43326 | 1.00 | 0.00 | None None | None None None None | None | ||||
ALK |
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | pc751_s1 | 2 | rs2293564
dbSNP |
29543663 | 409.5 | T | C | PASS | 0/1 | 35 | SYNONYMOUS_CODING | LOW | SILENT | 0.77656 | 0.77660 | 0.20906 | None None | None None None None | None | ||||||
TMEM127 |
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | pc751_s1 | 2 | rs3852673
dbSNP |
96919642 | 181.3 | C | T | LowGQ;LowGQX;SB | 0/1 | 7 | SYNONYMOUS_CODING | LOW | SILENT | 0.13938 | 0.13940 | 0.13871 | None None | None None None None | None | ||||||
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | pc751_s1 | 2 | rs10187424
dbSNP |
85794297 | 427.33 | T | C | PASS | 0/1 | 62 | None | None | None | 0.46765 | 0.46770 | None None | None None None None | None |