| |
| Variant | Impact | Inheritance pattern | Summary | Genomes |
|---|
| TRIOBP P89A | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01175-DNA_B05 from PGP sample 83494370 |
| TRIOBP E128D | insufficiently evaluated not reviewed, f=0.000 | unknown |
| var-GS18505-1100-36-ASM |
| TRIOBP T195I | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01175-DNA_B04 from PGP sample 88590671 |
| TRIOBP S217N | insufficiently evaluated none, f=0.544 | unknown |
| CGI sample GS01669-DNA_C07 from PGP sample 74521372 |
| CGI sample GS01173-DNA_C02 from PGP sample 10366372 |
| CGI sample GS01175-DNA_G03 from PGP sample 92527586 |
| CGI sample GS01669-DNA_F02 from PGP sample 40767107 |
| CGI sample GS01175-DNA_H01 from PGP sample 94797469 |
| hu34D5B9 exome (hom) |
| hu3215A7 build 36 substitution variants (hom) |
| PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) |
| var-GS18942-1100-36-ASM |
| CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom) |
| CGI sample GS01173-DNA_F02 from PGP sample 70008981 |
| var-GS19700-1100-36-ASM (hom) |
| var-GS18501-1100-36-ASM |
| var-GS18558-1100-36-ASM |
| CGI sample GS01173-DNA_G02 from PGP sample 67180598 |
| CGI sample GS000006909 (hom) |
| var-GS07357-1100-36-ASM (hom) |
| CGI sample GS000005532 |
| var-GS19703-1100-36-ASM |
| hu232307 build 36 substitution variants |
| var-GS12004-1100-36-ASM |
| CGI sample GS01173-DNA_H06 from PGP sample 91708424 |
| CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom) |
| CGI sample GS00253-DNA_G01_200_37 (hom) |
| var-GS19701-1100-36-ASM |
| CGI sample GS01175-DNA_A04 from PGP sample 13272228 |
| var-GS19704-1100-36-ASM |
| var-GS10851-1100-36-ASM |
| CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom) |
| var-GS19239-1100-36-ASM |
| var-GS19017-1100-36-ASM (hom) |
| var-GS18502-1100-36-ASM (hom) |
| var-GS18555-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_B05 from PGP sample 86486261 |
| var-GS19648-1100-36-ASM |
| var-GS18537-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_B02_200_37 |
| CGI sample GS01669-DNA_H05 from PGP sample 10971581 |
| CGI sample GS00253-DNA_B01_200_37 |
| CGI sample GS01173-DNA_F06 from PGP sample 64191565 |
| CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom) |
| var-GS20502-1100-36-ASM |
| CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom) |
| var-GS19129-1100-36-ASM |
| CGI sample GS00253-DNA_D01_200_37 (hom) |
| CGI sample GS00253-DNA_C01_200_37 |
| var-GS18526-1100-36-ASM (hom) |
| hu728FFF build 36 substitution variants (hom) |
| var-GS18947-1100-36-ASM |
| var-GS18505-1100-36-ASM |
| var-GS19238-1100-36-ASM |
| CGI sample GS00253-DNA_A02_200_37 |
| var-GS06994-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_H01_200_37 |
| CGI sample GS01669-DNA_A04 from PGP sample 08188426 |
| CGI sample GS01175-DNA_F02 from PGP sample 95788191 |
| CGI sample GS01175-DNA_B04 from PGP sample 88590671 |
| CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom) |
| CGI sample GS01173-DNA_A07 from PGP sample 96240009 |
| CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom) |
| var-GS18508-1100-36-ASM |
| var-GS19669-1100-36-ASM (hom) |
| var-GS20509-1100-36-ASM (hom) |
| var-GS18940-1100-36-ASM (hom) |
| var-GS06985-1100-36-ASM |
| var-GS18956-1100-36-ASM |
| var-GS18517-1100-36-ASM |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom) |
| TRIOBP R237W | insufficiently evaluated not reviewed, f=0.016 | unknown |
| var-GS18942-1100-36-ASM |
| var-GS19700-1100-36-ASM |
| TRIOBP Q297X | insufficiently evaluated pathogenic | unknown |
(23 web hits) | |
| TRIOBP A322S | insufficiently evaluated not reviewed | unknown |
| var-GS18558-1100-36-ASM |
| TRIOBP A322V | insufficiently evaluated not reviewed, f=0.000 | unknown |
| CGI sample GS00253-DNA_H01_200_37 |
| TRIOBP R347X | insufficiently evaluated pathogenic | unknown |
(19 web hits) | |
| TRIOBP S378T | insufficiently evaluated none | unknown |
| |
| TRIOBP Q398Del | insufficiently evaluated not reviewed, f=0.308 | unknown |
| CGI sample GS01669-DNA_C07 from PGP sample 74521372 |
| CGI sample GS01173-DNA_C02 from PGP sample 10366372 |
| CGI sample GS01175-DNA_G03 from PGP sample 92527586 |
| CGI sample GS01175-DNA_H01 from PGP sample 94797469 |
| hu34D5B9 exome |
| PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) |
| var-GS18942-1100-36-ASM |
| var-GS19700-1100-36-ASM |
| var-GS18558-1100-36-ASM |
| CGI sample GS01173-DNA_G02 from PGP sample 67180598 |
| CGI sample GS000005532 |
| var-GS19703-1100-36-ASM |
| var-GS12004-1100-36-ASM |
| CGI sample GS01173-DNA_H06 from PGP sample 91708424 |
| var-GS10851-1100-36-ASM |
| var-GS19239-1100-36-ASM |
| var-GS18555-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_B05 from PGP sample 86486261 |
| var-GS18537-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_B02_200_37 |
| CGI sample GS01669-DNA_H05 from PGP sample 10971581 |
| CGI sample GS00253-DNA_B01_200_37 |
| CGI sample GS01173-DNA_F06 from PGP sample 64191565 |
| CGI sample GS01175-DNA_B01 from PGP sample 86206034 |
| var-GS19129-1100-36-ASM |
| var-GS18526-1100-36-ASM (hom) |
| var-GS18947-1100-36-ASM |
| var-GS06994-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_A04 from PGP sample 08188426 |
| CGI sample GS01175-DNA_F02 from PGP sample 95788191 |
| CGI sample GS01175-DNA_B04 from PGP sample 88590671 |
| CGI sample GS01173-DNA_A07 from PGP sample 96240009 |
| CGI sample GS01173-DNA_B07 from PGP sample 61499538 |
| var-GS18508-1100-36-ASM |
| var-GS20509-1100-36-ASM |
| var-GS18940-1100-36-ASM |
| var-GS06985-1100-36-ASM |
| var-GS18956-1100-36-ASM |
| TRIOBP Q398P | insufficiently evaluated none | unknown |
| |
| TRIOBP Q398R | insufficiently evaluated none | unknown |
| |
| TRIOBP E400D | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS07357-1100-36-ASM |
| TRIOBP S402P | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS07357-1100-36-ASM |
| TRIOBP R409Q | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01173-DNA_H06 from PGP sample 91708424 |
| TRIOBP K413R | insufficiently evaluated not reviewed, f=0.034 | unknown |
| CGI sample GS01173-DNA_C02 from PGP sample 10366372 |
| CGI sample GS01175-DNA_G03 from PGP sample 92527586 |
| CGI sample GS01175-DNA_H01 from PGP sample 94797469 |
| hu34D5B9 exome |
| var-GS18555-1100-36-ASM |
| var-GS18537-1100-36-ASM |
| CGI sample GS01173-DNA_F06 from PGP sample 64191565 |
| CGI sample GS01175-DNA_B01 from PGP sample 86206034 |
| CGI sample GS01175-DNA_B04 from PGP sample 88590671 |
| CGI sample GS01173-DNA_A07 from PGP sample 96240009 |
| CGI sample GS01173-DNA_B07 from PGP sample 61499538 |
| TRIOBP K420R | insufficiently evaluated none | unknown |
| |
| TRIOBP D436N | insufficiently evaluated none, f=0.054 | unknown |
| |
| TRIOBP S442Del | insufficiently evaluated not reviewed, f=0.042 | unknown |
| var-GS18555-1100-36-ASM |
| TRIOBP S444N | insufficiently evaluated none, f=0.075 | unknown |
| var-GS18555-1100-36-ASM |
| TRIOBP T447A | insufficiently evaluated not reviewed, f=0.056 | unknown |
| var-GS18555-1100-36-ASM |
| TRIOBP R462K | insufficiently evaluated none, f=0.001 | unknown |
| |
| TRIOBP R475Q | insufficiently evaluated none | unknown |
| |
| TRIOBP R478T | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01175-DNA_B01 from PGP sample 86206034 |
| TRIOBP S491Del | insufficiently evaluated not reviewed, f=0.019 | unknown |
| var-GS20502-1100-36-ASM |
| TRIOBP S493N | insufficiently evaluated none, f=0.130 | unknown |
| hu34D5B9 exome |
| hu232307 build 36 substitution variants |
| var-GS20502-1100-36-ASM (hom) |
| CGI sample GS01173-DNA_A07 from PGP sample 96240009 |
| TRIOBP T496A | insufficiently evaluated not reviewed, f=0.019 | unknown |
| var-GS20502-1100-36-ASM |
| TRIOBP A531P | insufficiently evaluated not reviewed, f=0.009 | unknown |
| var-GS19025-1100-36-ASM |
| var-GS19020-1100-36-ASM |
| TRIOBP E533K | insufficiently evaluated not reviewed | unknown |
| |
| TRIOBP R537H | insufficiently evaluated none | unknown |
| |
| TRIOBP S540Del | insufficiently evaluated not reviewed, f=0.114 | unknown |
| hu34D5B9 exome |
| var-GS07357-1100-36-ASM |
| CGI sample GS00253-DNA_G01_200_37 |
| var-GS19239-1100-36-ASM |
| var-GS19017-1100-36-ASM |
| var-GS19129-1100-36-ASM |
| var-GS18526-1100-36-ASM |
| var-GS19238-1100-36-ASM |
| CGI sample GS01173-DNA_B07 from PGP sample 61499538 |
| var-GS18508-1100-36-ASM |
| var-GS20509-1100-36-ASM |
| TRIOBP N542S | insufficiently evaluated none | unknown |
| |
| TRIOBP A545T | insufficiently evaluated none | unknown |
| CGI sample GS01669-DNA_C05 from PGP sample 42408046 |
| TRIOBP R576T | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01173-DNA_D06 from PGP sample 69488604 |
| TRIOBP Q581X | insufficiently evaluated pathogenic | unknown |
(21 web hits) | |
| TRIOBP V587A | insufficiently evaluated not reviewed | unknown |
| |
| TRIOBP N591S | insufficiently evaluated not reviewed, f=0.001 | unknown |
| var-GS18517-1100-36-ASM |
| TRIOBP T594A | insufficiently evaluated none | unknown |
| |
| TRIOBP R655Q | insufficiently evaluated not reviewed, f=0.002 | unknown |
| var-GS19834-1100-36-ASM |
| TRIOBP T715I | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01173-DNA_C02 from PGP sample 10366372 |
| CGI sample GS01175-DNA_G03 from PGP sample 92527586 |
| CGI sample GS01175-DNA_H01 from PGP sample 94797469 |
| hu34D5B9 exome |
| CGI sample GS01173-DNA_F02 from PGP sample 70008981 |
| CGI sample GS01173-DNA_G02 from PGP sample 67180598 |
| CGI sample GS01175-DNA_B05 from PGP sample 83494370 |
| CGI sample GS01173-DNA_H06 from PGP sample 91708424 |
| CGI sample GS01175-DNA_A04 from PGP sample 13272228 |
| CGI sample GS01173-DNA_F06 from PGP sample 64191565 |
| CGI sample GS01175-DNA_D01 from PGP sample 31286272 |
| CGI sample GS01173-DNA_B02 from PGP sample 94378523 |
| TRIOBP R745K | insufficiently evaluated not reviewed, f=0.009 | unknown |
| hu232307 build 36 substitution variants |
| TRIOBP R788X | insufficiently evaluated pathogenic, f=0.000 | unknown |
(26 web hits) | |
| TRIOBP R798W | insufficiently evaluated not reviewed, f=0.010 | unknown |
| var-GS19025-1100-36-ASM |
| var-GS19020-1100-36-ASM |
| TRIOBP T817S | insufficiently evaluated none, f=0.056 | unknown |
| var-GS19701-1100-36-ASM |
| CGI sample GS01669-DNA_D02 from PGP sample 27316983 |
| CGI sample GS00253-DNA_B02_200_37 |
| var-GS19240-1100-36-ASM |
| var-GS19238-1100-36-ASM |
| CGI sample GS01175-DNA_B04 from PGP sample 88590671 |
| CGI sample GS01173-DNA_A07 from PGP sample 96240009 |
| TRIOBP S826L | insufficiently evaluated not reviewed, f=0.020 | unknown |
| CGI sample GS01173-DNA_D06 from PGP sample 69488604 |
| var-GS19648-1100-36-ASM |
| var-GS19669-1100-36-ASM |
| TRIOBP N863K | insufficiently evaluated none, f=0.342 | unknown |
| CGI sample GS01669-DNA_C07 from PGP sample 74521372 |
| CGI sample GS01173-DNA_C02 from PGP sample 10366372 |
| CGI sample GS01175-DNA_G03 from PGP sample 92527586 |
| CGI sample GS01175-DNA_H01 from PGP sample 94797469 |
| hu34D5B9 exome |
| PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) |
| var-GS18942-1100-36-ASM |
| var-GS19700-1100-36-ASM |
| var-GS18558-1100-36-ASM |
| CGI sample GS01173-DNA_G02 from PGP sample 67180598 |
| CGI sample GS000006909 (hom) |
| var-GS07357-1100-36-ASM (hom) |
| CGI sample GS000005532 |
| var-GS19703-1100-36-ASM |
| hu232307 build 36 substitution variants |
| var-GS12004-1100-36-ASM |
| CGI sample GS01173-DNA_H06 from PGP sample 91708424 |
| CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom) |
| CGI sample GS00253-DNA_G01_200_37 (hom) |
| CGI sample GS01175-DNA_A04 from PGP sample 13272228 |
| var-GS10851-1100-36-ASM |
| CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom) |
| var-GS19239-1100-36-ASM |
| var-GS19017-1100-36-ASM (hom) |
| var-GS18555-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_B05 from PGP sample 86486261 |
| var-GS19648-1100-36-ASM |
| var-GS18537-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_B02_200_37 |
| CGI sample GS01669-DNA_H05 from PGP sample 10971581 |
| CGI sample GS00253-DNA_B01_200_37 |
| CGI sample GS01173-DNA_F06 from PGP sample 64191565 |
| CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom) |
| var-GS20502-1100-36-ASM |
| CGI sample GS01175-DNA_B01 from PGP sample 86206034 |
| var-GS19129-1100-36-ASM |
| CGI sample GS00253-DNA_D01_200_37 (hom) |
| CGI sample GS00253-DNA_C01_200_37 |
| var-GS18526-1100-36-ASM (hom) |
| hu728FFF build 36 substitution variants |
| var-GS18947-1100-36-ASM |
| var-GS19238-1100-36-ASM |
| var-GS06994-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_A04 from PGP sample 08188426 |
| CGI sample GS01175-DNA_F02 from PGP sample 95788191 |
| CGI sample GS01175-DNA_B04 from PGP sample 88590671 |
| CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom) |
| CGI sample GS01173-DNA_A07 from PGP sample 96240009 |
| CGI sample GS01173-DNA_B07 from PGP sample 61499538 |
| var-GS18508-1100-36-ASM |
| var-GS19669-1100-36-ASM (hom) |
| var-GS20509-1100-36-ASM |
| var-GS18940-1100-36-ASM |
| var-GS06985-1100-36-ASM |
| var-GS18956-1100-36-ASM |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom) |
| TRIOBP P1030R | insufficiently evaluated not reviewed, f=0.010 | unknown |
| CGI sample GS00253-DNA_G01_200_37 |
| CGI sample GS01173-DNA_B07 from PGP sample 61499538 |
| TRIOBP R1068X | insufficiently evaluated pathogenic | unknown |
(25 web hits) | |
| TRIOBP R1078C | insufficiently evaluated not reviewed, f=0.002 | unknown |
| var-GS20509-1100-36-ASM |
| TRIOBP R1078H | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS06985-1100-36-ASM |
| TRIOBP R1117X | insufficiently evaluated pathogenic | unknown |
(20 web hits) | |
| TRIOBP F1187L | insufficiently evaluated none, f=0.347 | unknown |
| CGI sample GS01669-DNA_C07 from PGP sample 74521372 |
| CGI sample GS01173-DNA_C02 from PGP sample 10366372 |
| CGI sample GS01175-DNA_G03 from PGP sample 92527586 |
| CGI sample GS01175-DNA_H01 from PGP sample 94797469 |
| hu34D5B9 exome |
| var-GS18942-1100-36-ASM |
| var-GS19700-1100-36-ASM |
| var-GS18558-1100-36-ASM |
| CGI sample GS01173-DNA_G02 from PGP sample 67180598 |
| CGI sample GS000006909 (hom) |
| var-GS07357-1100-36-ASM (hom) |
| CGI sample GS000005532 |
| var-GS19703-1100-36-ASM |
| hu232307 build 36 substitution variants |
| var-GS12004-1100-36-ASM |
| CGI sample GS01173-DNA_H06 from PGP sample 91708424 |
| CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom) |
| CGI sample GS00253-DNA_G01_200_37 (hom) |
| CGI sample GS01175-DNA_A04 from PGP sample 13272228 |
| var-GS10851-1100-36-ASM |
| CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom) |
| var-GS19239-1100-36-ASM |
| var-GS18555-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_B05 from PGP sample 86486261 |
| var-GS19648-1100-36-ASM |
| var-GS18537-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_H05 from PGP sample 10971581 |
| CGI sample GS00253-DNA_B01_200_37 |
| CGI sample GS01173-DNA_F06 from PGP sample 64191565 |
| CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom) |
| var-GS20502-1100-36-ASM |
| CGI sample GS01175-DNA_B01 from PGP sample 86206034 |
| var-GS19129-1100-36-ASM |
| CGI sample GS00253-DNA_D01_200_37 (hom) |
| CGI sample GS00253-DNA_C01_200_37 |
| var-GS18526-1100-36-ASM (hom) |
| hu728FFF build 36 substitution variants |
| var-GS18947-1100-36-ASM |
| var-GS19238-1100-36-ASM |
| var-GS06994-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_A04 from PGP sample 08188426 |
| CGI sample GS01175-DNA_F02 from PGP sample 95788191 |
| CGI sample GS01175-DNA_B04 from PGP sample 88590671 |
| CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom) |
| CGI sample GS01173-DNA_A07 from PGP sample 96240009 |
| CGI sample GS01173-DNA_B07 from PGP sample 61499538 |
| var-GS18508-1100-36-ASM |
| var-GS19669-1100-36-ASM (hom) |
| var-GS20509-1100-36-ASM |
| var-GS18940-1100-36-ASM |
| var-GS06985-1100-36-ASM |
| var-GS18956-1100-36-ASM |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom) |
| TRIOBP R1231H | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS19669-1100-36-ASM |
| TRIOBP H1300R | insufficiently evaluated none, f=0.624 | unknown |
| CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom) |
| CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom) |
| CGI sample GS01175-DNA_G03 from PGP sample 92527586 |
| CGI sample GS01669-DNA_F02 from PGP sample 40767107 |
| CGI sample GS01175-DNA_H01 from PGP sample 94797469 |
| hu34D5B9 exome (hom) |
| var-GS19700-1100-36-ASM |
| var-GS18558-1100-36-ASM (hom) |
| var-GS19735-1100-36-ASM (hom) |
| CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom) |
| CGI sample GS000006909 (hom) |
| CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom) |
| var-GS19703-1100-36-ASM |
| hu232307 build 36 substitution variants (hom) |
| CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom) |
| CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom) |
| CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom) |
| CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom) |
| var-GS19834-1100-36-ASM |
| var-GS19239-1100-36-ASM |
| var-GS19649-1100-36-ASM (hom) |
| var-GS18555-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom) |
| var-GS19648-1100-36-ASM |
| CGI sample GS01669-DNA_D02 from PGP sample 27316983 |
| CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom) |
| CGI sample GS00253-DNA_B01_200_37 (hom) |
| CGI sample GS01173-DNA_F06 from PGP sample 64191565 |
| CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom) |
| CGI sample GS00253-DNA_F01_200_37 (hom) |
| CGI sample GS01175-DNA_B01 from PGP sample 86206034 |
| CGI sample GS01175-DNA_D01 from PGP sample 31286272 |
| var-GS19129-1100-36-ASM |
| CGI sample GS00253-DNA_C01_200_37 (hom) |
| hu728FFF build 36 substitution variants |
| var-GS18947-1100-36-ASM (hom) |
| var-GS19238-1100-36-ASM |
| CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom) |
| CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom) |
| CGI sample GS01175-DNA_B04 from PGP sample 88590671 |
| CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom) |
| CGI sample GS01173-DNA_A07 from PGP sample 96240009 |
| CGI sample GS01173-DNA_B07 from PGP sample 61499538 |
| var-GS20509-1100-36-ASM |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom) |
| TRIOBP A1321Shift | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01175-DNA_H01 from PGP sample 94797469 |
| TRIOBP R1344Q | insufficiently evaluated none, f=0.003 | unknown |
| |
| TRIOBP E1372D | insufficiently evaluated none, f=0.222 | unknown |
| CGI sample GS00253-DNA_E01_200_37 (hom) |
| CGI sample GS01669-DNA_C07 from PGP sample 74521372 |
| CGI sample GS01173-DNA_C02 from PGP sample 10366372 |
| CGI sample GS01669-DNA_F02 from PGP sample 40767107 |
| PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) |
| var-GS18942-1100-36-ASM |
| var-GS18558-1100-36-ASM |
| var-GS19735-1100-36-ASM (hom) |
| CGI sample GS01173-DNA_G02 from PGP sample 67180598 |
| CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom) |
| hu232307 build 36 substitution variants |
| var-GS12004-1100-36-ASM |
| CGI sample GS01173-DNA_H06 from PGP sample 91708424 |
| CGI sample GS01175-DNA_A04 from PGP sample 13272228 |
| var-GS10851-1100-36-ASM |
| CGI sample GS00253-DNA_A01_200_37 (hom) |
| var-GS19834-1100-36-ASM |
| var-GS19649-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_B05 from PGP sample 86486261 |
| CGI sample GS01669-DNA_D02 from PGP sample 27316983 |
| CGI sample GS01669-DNA_H05 from PGP sample 10971581 |
| CGI sample GS00253-DNA_B01_200_37 |
| CGI sample GS00253-DNA_F01_200_37 (hom) |
| var-GS20502-1100-36-ASM |
| CGI sample GS01175-DNA_D01 from PGP sample 31286272 |
| CGI sample GS00253-DNA_C01_200_37 |
| var-GS18947-1100-36-ASM |
| var-GS19670-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_A02_200_37 |
| CGI sample GS00253-DNA_H01_200_37 |
| CGI sample GS01669-DNA_A04 from PGP sample 08188426 |
| CGI sample GS01175-DNA_F02 from PGP sample 95788191 |
| var-GS18940-1100-36-ASM |
| var-GS06985-1100-36-ASM |
| var-GS18956-1100-36-ASM |
| TRIOBP W1377R | insufficiently evaluated not reviewed, f=0.965 | unknown |
(22 web hits) | CGI sample GS00253-DNA_E01_200_37 (hom) |
| CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom) |
| CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom) |
| CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom) |
| var-GS19025-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom) |
| CGI sample GS01175-DNA_H01 from PGP sample 94797469 |
| hu34D5B9 exome (hom) |
| hu3215A7 build 36 substitution variants (hom) |
| PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom) |
| var-GS18942-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom) |
| var-GS19020-1100-36-ASM (hom) |
| CGI sample GS01173-DNA_F02 from PGP sample 70008981 |
| var-GS19700-1100-36-ASM (hom) |
| var-GS18501-1100-36-ASM (hom) |
| var-GS18504-1100-36-ASM (hom) |
| var-GS18558-1100-36-ASM (hom) |
| var-GS19735-1100-36-ASM (hom) |
| CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom) |
| CGI sample GS000006909 (hom) |
| CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom) |
| var-GS07357-1100-36-ASM (hom) |
| CGI sample GS000005532 (hom) |
| var-GS19703-1100-36-ASM (hom) |
| hu232307 build 36 substitution variants (hom) |
| var-GS12004-1100-36-ASM (hom) |
| CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom) |
| CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom) |
| CGI sample GS00253-DNA_G01_200_37 (hom) |
| var-GS19701-1100-36-ASM (hom) |
| CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom) |
| var-GS21767-1100-36-ASM (hom) |
| var-GS19704-1100-36-ASM (hom) |
| var-GS10851-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_A01_200_37 (hom) |
| CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom) |
| var-GS19834-1100-36-ASM (hom) |
| var-GS19239-1100-36-ASM (hom) |
| var-GS19017-1100-36-ASM (hom) |
| var-GS18502-1100-36-ASM (hom) |
| var-GS19649-1100-36-ASM (hom) |
| var-GS18555-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom) |
| var-GS19648-1100-36-ASM |
| var-GS18537-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom) |
| CGI sample GS00253-DNA_B02_200_37 (hom) |
| CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom) |
| CGI sample GS00253-DNA_B01_200_37 (hom) |
| CGI sample GS01173-DNA_F06 from PGP sample 64191565 |
| CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom) |
| CGI sample GS00253-DNA_F01_200_37 (hom) |
| var-GS20502-1100-36-ASM (hom) |
| CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom) |
| CGI sample GS01175-DNA_D01 from PGP sample 31286272 |
| var-GS19129-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_D01_200_37 (hom) |
| var-GS19240-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_C01_200_37 (hom) |
| var-GS18526-1100-36-ASM (hom) |
| hu728FFF build 36 substitution variants (hom) |
| var-GS18947-1100-36-ASM (hom) |
| var-GS18505-1100-36-ASM (hom) |
| var-GS19238-1100-36-ASM (hom) |
| var-GS19670-1100-36-ASM (hom) |
| var-GS06994-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_H01_200_37 (hom) |
| CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom) |
| CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom) |
| CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom) |
| CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom) |
| CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom) |
| CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom) |
| var-GS18508-1100-36-ASM (hom) |
| var-GS19669-1100-36-ASM (hom) |
| var-GS19026-1100-36-ASM (hom) |
| var-GS20509-1100-36-ASM (hom) |
| var-GS18940-1100-36-ASM (hom) |
| var-GS06985-1100-36-ASM (hom) |
| var-GS18956-1100-36-ASM (hom) |
| var-GS18517-1100-36-ASM (hom) |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom) |
| TRIOBP L1389I | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01175-DNA_G03 from PGP sample 92527586 |
| TRIOBP P1393L | insufficiently evaluated not reviewed, f=0.006 | unknown |
| |
| TRIOBP R1445G | insufficiently evaluated not reviewed, f=0.001 | unknown |
| CGI sample GS01175-DNA_H01 from PGP sample 94797469 |
| var-GS19648-1100-36-ASM |
| TRIOBP A1523T | insufficiently evaluated not reviewed, f=0.000 | unknown |
| var-GS18942-1100-36-ASM |
| TRIOBP R1922W | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01669-DNA_B03 from PGP sample 14427241 |
| TRIOBP S2091T | insufficiently evaluated none, f=0.005 | unknown |
| var-GS18517-1100-36-ASM |
| TRIOBP R2188Q | insufficiently evaluated none | unknown |
| |
| TRIOBP H2191Y | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01175-DNA_G03 from PGP sample 92527586 |
| TRIOBP E2246K | insufficiently evaluated not reviewed, f=0.004 | unknown |
| CGI sample GS01669-DNA_F02 from PGP sample 40767107 |
| CGI sample GS00253-DNA_F01_200_37 |
| TRIOBP R2250H | insufficiently evaluated none | unknown |
| |
| TRIOBP N2269S | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01175-DNA_G03 from PGP sample 92527586 |
| TRIOBP V2300A | insufficiently evaluated not reviewed, f=0.006 | unknown |
| |
Page: 1 2 3 4 5 6 7 8
Total results: 71 |