| |
| Variant | Impact | Inheritance pattern | Summary | Genomes |
|---|
| FH Y2H | insufficiently evaluated not reviewed | unknown |
(43600 web hits) | |
| FH A17V | insufficiently evaluated not reviewed, f=0.000 | unknown |
(72 web hits) | |
| FH A20T | insufficiently evaluated not reviewed, f=0.010 | unknown |
| var-GS19735-1100-36-ASM |
| FH A21V | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS06994-1100-36-ASM |
| FH P26L | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01669-DNA_A04 from PGP sample 08188426 |
| FH R58P | insufficiently evaluated pathogenic | unknown |
(76 web hits) | |
| FH R58X | insufficiently evaluated pathogenic | unknown |
(69 web hits) | |
| FH N64T | insufficiently evaluated pathogenic | unknown |
(75 web hits) | |
| FH R101Q | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS18940-1100-36-ASM |
| FH R190H | insufficiently evaluated pathogenic | unknown |
(77 web hits) | |
| FH R190L | insufficiently evaluated pathogenic | unknown |
(16 web hits) | |
| FH A265T | insufficiently evaluated pathogenic | unknown |
(11 web hits) | |
| FH R300X | insufficiently evaluated pathogenic | unknown |
(23 web hits) | |
| FH E319Q | insufficiently evaluated pathogenic | unknown |
(18 web hits) | |
| FHAD1 KA2NS | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS19704-1100-36-ASM |
| FHAD1 P99L | insufficiently evaluated not reviewed, f=0.046 | unknown |
| var-GS18942-1100-36-ASM (hom) |
| var-GS19703-1100-36-ASM |
| var-GS19701-1100-36-ASM |
| var-GS19834-1100-36-ASM |
| var-GS18502-1100-36-ASM |
| var-GS18526-1100-36-ASM |
| CGI sample GS01669-DNA_A04 from PGP sample 08188426 |
| FHAD1 D180N | insufficiently evaluated not reviewed, f=0.009 | unknown |
| var-GS18508-1100-36-ASM |
| FHAD1 R182H | insufficiently evaluated none, f=0.309 | unknown |
| CGI sample GS00253-DNA_E01_200_37 |
| 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 |
| hu34D5B9 exome |
| hu3215A7 build 36 substitution variants |
| var-GS19020-1100-36-ASM |
| CGI sample GS01173-DNA_F02 from PGP sample 70008981 |
| var-GS19700-1100-36-ASM |
| CGI sample GS01175-DNA_B05 from PGP sample 83494370 |
| var-GS07357-1100-36-ASM |
| CGI sample GS000005532 |
| var-GS19703-1100-36-ASM |
| hu232307 build 36 substitution variants |
| var-GS19701-1100-36-ASM |
| var-GS21767-1100-36-ASM |
| var-GS19704-1100-36-ASM |
| CGI sample GS01173-DNA_D06 from PGP sample 69488604 |
| var-GS18502-1100-36-ASM |
| var-GS19649-1100-36-ASM |
| CGI sample GS01175-DNA_D01 from PGP sample 31286272 |
| CGI sample GS00253-DNA_D01_200_37 (hom) |
| CGI sample GS00253-DNA_C01_200_37 |
| var-GS18505-1100-36-ASM |
| var-GS06994-1100-36-ASM |
| CGI sample GS00253-DNA_H01_200_37 |
| CGI sample GS01175-DNA_F02 from PGP sample 95788191 |
| CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom) |
| CGI sample GS01173-DNA_B02 from PGP sample 94378523 |
| CGI sample GS01173-DNA_A07 from PGP sample 96240009 |
| CGI sample GS01173-DNA_B07 from PGP sample 61499538 |
| var-GS19669-1100-36-ASM |
| var-GS20509-1100-36-ASM |
| FHAD1 V252I | insufficiently evaluated not reviewed, f=0.020 | unknown |
| var-GS19025-1100-36-ASM |
| var-GS19703-1100-36-ASM |
| var-GS19834-1100-36-ASM |
| CGI sample GS01175-DNA_B01 from PGP sample 86206034 |
| var-GS18505-1100-36-ASM |
| CGI sample GS01669-DNA_A04 from PGP sample 08188426 |
| var-GS18508-1100-36-ASM |
| var-GS18940-1100-36-ASM |
| FHAD1 I356M | insufficiently evaluated none, f=0.060 | unknown |
| CGI sample GS01175-DNA_G03 from PGP sample 92527586 |
| PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) |
| CGI sample GS01173-DNA_F02 from PGP sample 70008981 |
| CGI sample GS000005532 |
| CGI sample GS01175-DNA_A04 from PGP sample 13272228 |
| CGI sample GS00253-DNA_H01_200_37 |
| var-GS06985-1100-36-ASM |
| FHAD1 D402V | insufficiently evaluated not reviewed, f=0.001 | unknown |
| var-GS19026-1100-36-ASM |
| FHAD1 L492V | insufficiently evaluated not reviewed, f=0.002 | unknown |
| var-GS19129-1100-36-ASM |
| FHAD1 A502V | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01669-DNA_C05 from PGP sample 42408046 |
| FHAD1 A507V | insufficiently evaluated not reviewed, f=0.004 | unknown |
| var-GS19238-1100-36-ASM |
| FHAD1 N533S | insufficiently evaluated not reviewed | unknown |
| |
| FHAD1 G651R | insufficiently evaluated none, f=0.414 | unknown |
| CGI sample GS00253-DNA_E01_200_37 (hom) |
| CGI sample GS01669-DNA_C07 from PGP sample 74521372 |
| var-GS19025-1100-36-ASM |
| CGI sample GS01669-DNA_F02 from PGP sample 40767107 |
| CGI sample GS01175-DNA_H01 from PGP sample 94797469 |
| hu34D5B9 exome |
| hu3215A7 build 36 substitution variants |
| PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) |
| CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom) |
| var-GS19020-1100-36-ASM |
| CGI sample GS01173-DNA_F02 from PGP sample 70008981 |
| var-GS18501-1100-36-ASM |
| var-GS18504-1100-36-ASM |
| var-GS18558-1100-36-ASM |
| CGI sample GS01173-DNA_G02 from PGP sample 67180598 |
| CGI sample GS000006909 |
| CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom) |
| var-GS07357-1100-36-ASM |
| CGI sample GS000005532 |
| var-GS19703-1100-36-ASM |
| var-GS12004-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom) |
| CGI sample GS00253-DNA_G01_200_37 |
| var-GS19704-1100-36-ASM (hom) |
| var-GS10851-1100-36-ASM |
| CGI sample GS01173-DNA_D06 from PGP sample 69488604 |
| var-GS19834-1100-36-ASM |
| var-GS18502-1100-36-ASM |
| var-GS19649-1100-36-ASM |
| var-GS18555-1100-36-ASM |
| var-GS19648-1100-36-ASM (hom) |
| 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 GS01173-DNA_F06 from PGP sample 64191565 (hom) |
| CGI sample GS01175-DNA_D05 from PGP sample 1205491 |
| CGI sample GS00253-DNA_F01_200_37 |
| CGI sample GS01175-DNA_D01 from PGP sample 31286272 |
| var-GS19129-1100-36-ASM |
| CGI sample GS00253-DNA_D01_200_37 |
| var-GS19240-1100-36-ASM |
| CGI sample GS00253-DNA_C01_200_37 |
| hu728FFF build 36 substitution variants (hom) |
| 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 GS01173-DNA_B02 from PGP sample 94378523 (hom) |
| CGI sample GS01173-DNA_A07 from PGP sample 96240009 |
| var-GS18508-1100-36-ASM (hom) |
| var-GS19669-1100-36-ASM |
| var-GS19026-1100-36-ASM |
| var-GS06985-1100-36-ASM |
| var-GS18517-1100-36-ASM (hom) |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 |
| FHAD1 R665Q | insufficiently evaluated not reviewed, f=0.077 | unknown |
(2 web hits) | var-GS19025-1100-36-ASM |
| CGI sample GS01669-DNA_C05 from PGP sample 42408046 |
| var-GS19020-1100-36-ASM |
| var-GS18501-1100-36-ASM |
| CGI sample GS01175-DNA_B05 from PGP sample 83494370 |
| CGI sample GS000005532 |
| var-GS12004-1100-36-ASM |
| CGI sample GS01669-DNA_B03 from PGP sample 14427241 |
| CGI sample GS00253-DNA_G01_200_37 |
| CGI sample GS01173-DNA_D06 from PGP sample 69488604 |
| var-GS19648-1100-36-ASM |
| CGI sample GS01173-DNA_F06 from PGP sample 64191565 |
| CGI sample GS00253-DNA_F01_200_37 |
| var-GS18505-1100-36-ASM |
| CGI sample GS01173-DNA_B02 from PGP sample 94378523 |
| var-GS18508-1100-36-ASM |
| var-GS19026-1100-36-ASM |
| var-GS06985-1100-36-ASM |
| var-GS18517-1100-36-ASM (hom) |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 |
| FHAD1 A851G | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01175-DNA_B05 from PGP sample 83494370 |
| FHAD1 E919G | insufficiently evaluated none, f=0.286 | unknown |
| var-GS19025-1100-36-ASM |
| CGI sample GS01175-DNA_H01 from PGP sample 94797469 |
| var-GS18942-1100-36-ASM (hom) |
| var-GS19020-1100-36-ASM |
| CGI sample GS01173-DNA_F02 from PGP sample 70008981 |
| var-GS18558-1100-36-ASM |
| CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom) |
| CGI sample GS000006909 |
| CGI sample GS01175-DNA_B05 from PGP sample 83494370 |
| var-GS07357-1100-36-ASM |
| CGI sample GS000005532 |
| var-GS12004-1100-36-ASM |
| CGI sample GS01669-DNA_B03 from PGP sample 14427241 |
| CGI sample GS00253-DNA_G01_200_37 (hom) |
| var-GS19701-1100-36-ASM |
| var-GS19704-1100-36-ASM |
| var-GS10851-1100-36-ASM (hom) |
| CGI sample GS01173-DNA_D06 from PGP sample 69488604 |
| var-GS19017-1100-36-ASM |
| var-GS19649-1100-36-ASM |
| CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom) |
| CGI sample GS01669-DNA_H05 from PGP sample 10971581 |
| CGI sample GS00253-DNA_B01_200_37 |
| var-GS20502-1100-36-ASM (hom) |
| CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom) |
| var-GS19129-1100-36-ASM |
| var-GS18526-1100-36-ASM |
| var-GS18505-1100-36-ASM |
| CGI sample GS01175-DNA_F02 from PGP sample 95788191 |
| CGI sample GS01173-DNA_B02 from PGP sample 94378523 |
| CGI sample GS01173-DNA_B07 from PGP sample 61499538 |
| var-GS06985-1100-36-ASM |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 |
| FHAD1 D964G | insufficiently evaluated none, f=0.003 | unknown |
| var-GS19834-1100-36-ASM |
| var-GS19239-1100-36-ASM |
| FHAD1 V1068I | insufficiently evaluated not reviewed, f=0.007 | unknown |
| var-GS19017-1100-36-ASM |
| FHAD1 R1160Q | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS18940-1100-36-ASM |
| FHAD1 A1167V | insufficiently evaluated not reviewed, f=0.028 | unknown |
| var-GS19020-1100-36-ASM |
| var-GS19238-1100-36-ASM |
| var-GS19670-1100-36-ASM |
| var-GS18508-1100-36-ASM |
| var-GS19026-1100-36-ASM |
| FHAD1 V1235A | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS18555-1100-36-ASM |
| FHAD1 M1262V | insufficiently evaluated none, f=0.017 | unknown |
| hu34D5B9 exome |
| var-GS19648-1100-36-ASM |
| CGI sample GS00253-DNA_D01_200_37 |
| CGI sample GS01173-DNA_B07 from PGP sample 61499538 |
| FHAD1 D1288N | insufficiently evaluated not reviewed, f=0.015 | unknown |
| var-GS19834-1100-36-ASM |
| var-GS19129-1100-36-ASM |
| FHAD1 R1319G | insufficiently evaluated not reviewed, f=0.000 | unknown |
| var-GS19025-1100-36-ASM |
| FHAD1 I1325V | insufficiently evaluated none, f=0.355 | unknown |
| CGI sample GS01669-DNA_C07 from PGP sample 74521372 |
| CGI sample GS01173-DNA_C02 from PGP sample 10366372 |
| var-GS19025-1100-36-ASM |
| CGI sample GS01175-DNA_H01 from PGP sample 94797469 |
| hu34D5B9 exome |
| CGI sample GS01669-DNA_C05 from PGP sample 42408046 |
| var-GS19020-1100-36-ASM (hom) |
| var-GS19700-1100-36-ASM (hom) |
| var-GS18501-1100-36-ASM |
| var-GS18504-1100-36-ASM (hom) |
| CGI sample GS01173-DNA_G02 from PGP sample 67180598 |
| CGI sample GS000006909 |
| var-GS19703-1100-36-ASM |
| CGI sample GS00253-DNA_G01_200_37 |
| var-GS21767-1100-36-ASM |
| var-GS19704-1100-36-ASM (hom) |
| var-GS10851-1100-36-ASM |
| CGI sample GS00253-DNA_A01_200_37 |
| CGI sample GS01173-DNA_D06 from PGP sample 69488604 |
| 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-GS19648-1100-36-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 |
| var-GS20502-1100-36-ASM (hom) |
| CGI sample GS01175-DNA_B01 from PGP sample 86206034 |
| var-GS19129-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_D01_200_37 |
| var-GS19240-1100-36-ASM (hom) |
| var-GS18526-1100-36-ASM |
| var-GS18505-1100-36-ASM (hom) |
| var-GS19238-1100-36-ASM (hom) |
| var-GS19670-1100-36-ASM |
| CGI sample GS01669-DNA_A04 from PGP sample 08188426 |
| CGI sample GS01173-DNA_B07 from PGP sample 61499538 |
| var-GS18508-1100-36-ASM |
| var-GS19669-1100-36-ASM |
| var-GS19026-1100-36-ASM (hom) |
| var-GS20509-1100-36-ASM |
| var-GS06985-1100-36-ASM |
| var-GS18956-1100-36-ASM |
| var-GS18517-1100-36-ASM (hom) |
| FHAD1 R1355S | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS18508-1100-36-ASM |
| FHAD1 Q1362R | insufficiently evaluated not reviewed, f=0.000 | unknown |
| var-GS18517-1100-36-ASM |
| FHAD1 S1381T | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01669-DNA_A04 from PGP sample 08188426 |
| FHDC1 T155A | insufficiently evaluated not reviewed | unknown |
| CGI sample GS00253-DNA_D01_200_37 |
| FHDC1 A172T | insufficiently evaluated none, f=0.037 | unknown |
| hu34D5B9 exome |
| var-GS18501-1100-36-ASM |
| CGI sample GS01669-DNA_D02 from PGP sample 27316983 |
| var-GS18505-1100-36-ASM |
| var-GS19670-1100-36-ASM |
| var-GS19026-1100-36-ASM |
| var-GS18956-1100-36-ASM (hom) |
| FHDC1 R174W | insufficiently evaluated not reviewed, f=0.000 | unknown |
| CGI sample GS00253-DNA_B02_200_37 |
| FHDC1 V232M | insufficiently evaluated not reviewed, f=0.000 | unknown |
| |
| FHDC1 R485H | insufficiently evaluated not reviewed, f=0.000 | unknown |
| var-GS19020-1100-36-ASM |
| var-GS19026-1100-36-ASM |
| FHDC1 P534R | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01173-DNA_B02 from PGP sample 94378523 |
| FHDC1 R573W | insufficiently evaluated not reviewed, f=0.016 | unknown |
| var-GS18947-1100-36-ASM |
| var-GS18940-1100-36-ASM |
| FHDC1 S605L | insufficiently evaluated not reviewed, f=0.009 | unknown |
| |
| FHDC1 A619E | insufficiently evaluated none, f=0.012 | unknown |
| var-GS18517-1100-36-ASM |
| FHDC1 R639C | insufficiently evaluated none, f=0.577 | 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 (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 (hom) |
| hu34D5B9 exome (hom) |
| PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom) |
| var-GS18942-1100-36-ASM |
| CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom) |
| var-GS19020-1100-36-ASM |
| CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom) |
| var-GS19700-1100-36-ASM |
| var-GS18501-1100-36-ASM |
| var-GS18558-1100-36-ASM |
| var-GS19735-1100-36-ASM |
| CGI sample GS01173-DNA_G02 from PGP sample 67180598 |
| CGI sample GS000006909 |
| CGI sample GS01175-DNA_B05 from PGP sample 83494370 |
| var-GS07357-1100-36-ASM |
| CGI sample GS000005532 |
| hu232307 build 36 substitution variants (hom) |
| var-GS12004-1100-36-ASM |
| 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 (hom) |
| var-GS21767-1100-36-ASM |
| var-GS10851-1100-36-ASM |
| CGI sample GS00253-DNA_A01_200_37 |
| CGI sample GS01173-DNA_D06 from PGP sample 69488604 |
| var-GS19834-1100-36-ASM |
| var-GS19239-1100-36-ASM |
| var-GS19649-1100-36-ASM |
| CGI sample GS01669-DNA_B05 from PGP sample 86486261 |
| var-GS19648-1100-36-ASM (hom) |
| var-GS18537-1100-36-ASM |
| 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 |
| CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom) |
| CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom) |
| CGI sample GS00253-DNA_F01_200_37 |
| var-GS20502-1100-36-ASM (hom) |
| CGI sample GS01175-DNA_B01 from PGP sample 86206034 |
| CGI sample GS01175-DNA_D01 from PGP sample 31286272 |
| CGI sample GS00253-DNA_D01_200_37 |
| var-GS19240-1100-36-ASM |
| CGI sample GS00253-DNA_C01_200_37 |
| var-GS18526-1100-36-ASM (hom) |
| var-GS18947-1100-36-ASM (hom) |
| var-GS19670-1100-36-ASM |
| CGI sample GS00253-DNA_A02_200_37 |
| 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 |
| CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom) |
| CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom) |
| CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom) |
| var-GS20509-1100-36-ASM (hom) |
| var-GS18940-1100-36-ASM |
| var-GS06985-1100-36-ASM |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom) |
| FHDC1 S734C | insufficiently evaluated none, f=0.013 | unknown |
| var-GS18517-1100-36-ASM |
| FHDC1 G847S | insufficiently evaluated not reviewed, f=0.003 | unknown |
| var-GS18501-1100-36-ASM |
| FHDC1 S1042A | insufficiently evaluated not reviewed, f=0.000 | unknown |
| var-GS19025-1100-36-ASM |
| FHL1 C104R | insufficiently evaluated pathogenic | unknown |
(1 web hit) | |
| FHL1 W122S | insufficiently evaluated pathogenic | unknown |
(7 web hits) | |
| FHL1 H123Y | insufficiently evaluated pathogenic | unknown |
(5 web hits) | |
| FHL1 C132F | insufficiently evaluated pathogenic | unknown |
(5 web hits) | |
| FHL1 C150Y | insufficiently evaluated pathogenic | unknown |
(1 web hit) | |
| FHL1 C153R | insufficiently evaluated pathogenic | unknown |
(5 web hits) | |
| FHL1 C153Y | insufficiently evaluated pathogenic | unknown |
(4 web hits) | |
| FHL1 C209R | insufficiently evaluated pathogenic | unknown |
(7 web hits) | |
| FHL1 C224W | insufficiently evaluated pathogenic | unknown |
(26 web hits) | |
| FHL1 D275N | insufficiently evaluated not reviewed, f=0.011 | unknown |
| var-GS12004-1100-36-ASM |
| FHL2 E12G | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS19239-1100-36-ASM |
| FHL2 V29M | insufficiently evaluated not reviewed, f=0.002 | unknown |
| var-GS07357-1100-36-ASM |
| var-GS21767-1100-36-ASM |
| FHL2 R177Q | insufficiently evaluated not reviewed, f=0.016 | unknown |
| var-GS18504-1100-36-ASM |
| CGI sample GS00253-DNA_B02_200_37 |
| FHL3 A103T | insufficiently evaluated none, f=0.018 | unknown |
| var-GS19240-1100-36-ASM |
| var-GS19238-1100-36-ASM |
| FHL3 E133D | insufficiently evaluated not reviewed | unknown |
| |
| FHL3 V151M | insufficiently evaluated none, f=0.008 | unknown |
| CGI sample GS00253-DNA_A01_200_37 |
| FHL5 R35H | insufficiently evaluated none, f=0.027 | unknown |
| hu34D5B9 exome |
| CGI sample GS000005532 |
| CGI sample GS00253-DNA_G01_200_37 |
| CGI sample GS01173-DNA_D06 from PGP sample 69488604 |
| CGI sample GS01173-DNA_F06 from PGP sample 64191565 |
| CGI sample GS00253-DNA_C01_200_37 |
| var-GS20509-1100-36-ASM |
| FHL5 R204G | insufficiently evaluated none, f=0.390 | unknown |
| CGI sample GS01173-DNA_C02 from PGP sample 10366372 |
| CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom) |
| var-GS19025-1100-36-ASM |
| hu34D5B9 exome |
| PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) |
| var-GS19700-1100-36-ASM |
| var-GS18501-1100-36-ASM (hom) |
| var-GS18504-1100-36-ASM (hom) |
| var-GS18558-1100-36-ASM |
| CGI sample GS000006909 (hom) |
| CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom) |
| CGI sample GS000005532 |
| var-GS19703-1100-36-ASM (hom) |
| hu232307 build 36 substitution variants |
| var-GS12004-1100-36-ASM (hom) |
| CGI sample GS01173-DNA_H06 from PGP sample 91708424 |
| CGI sample GS00253-DNA_G01_200_37 |
| var-GS21767-1100-36-ASM |
| var-GS19704-1100-36-ASM |
| var-GS10851-1100-36-ASM |
| CGI sample GS01173-DNA_D06 from PGP sample 69488604 |
| var-GS19834-1100-36-ASM |
| var-GS19239-1100-36-ASM (hom) |
| var-GS19017-1100-36-ASM |
| var-GS18502-1100-36-ASM (hom) |
| var-GS19648-1100-36-ASM (hom) |
| var-GS18537-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom) |
| CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom) |
| CGI sample GS00253-DNA_B01_200_37 |
| CGI sample GS01173-DNA_F06 from PGP sample 64191565 |
| CGI sample GS00253-DNA_F01_200_37 |
| var-GS20502-1100-36-ASM |
| var-GS19129-1100-36-ASM |
| var-GS19240-1100-36-ASM (hom) |
| hu728FFF build 36 substitution variants |
| var-GS18505-1100-36-ASM (hom) |
| var-GS19238-1100-36-ASM |
| var-GS06994-1100-36-ASM |
| CGI sample GS00253-DNA_H01_200_37 |
| 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 |
| var-GS18508-1100-36-ASM (hom) |
| var-GS19669-1100-36-ASM |
| var-GS19026-1100-36-ASM (hom) |
| var-GS06985-1100-36-ASM |
| var-GS18956-1100-36-ASM |
| var-GS18517-1100-36-ASM |
| FHL5 V211M | insufficiently evaluated none, f=0.285 | unknown |
| CGI sample GS00253-DNA_E01_200_37 |
| CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom) |
| CGI sample GS01173-DNA_C02 from PGP sample 10366372 |
| CGI sample GS01669-DNA_F02 from PGP sample 40767107 |
| CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom) |
| hu34D5B9 exome |
| hu3215A7 build 36 substitution variants |
| 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 (hom) |
| var-GS18558-1100-36-ASM |
| var-GS19735-1100-36-ASM (hom) |
| var-GS07357-1100-36-ASM (hom) |
| CGI sample GS000005532 |
| CGI sample GS01173-DNA_H06 from PGP sample 91708424 |
| CGI sample GS01669-DNA_B03 from PGP sample 14427241 |
| CGI sample GS00253-DNA_G01_200_37 |
| CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom) |
| CGI sample GS00253-DNA_A01_200_37 |
| CGI sample GS01173-DNA_D06 from PGP sample 69488604 |
| var-GS19834-1100-36-ASM |
| var-GS19649-1100-36-ASM (hom) |
| var-GS18555-1100-36-ASM (hom) |
| 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) |
| CGI sample GS00253-DNA_F01_200_37 |
| var-GS20502-1100-36-ASM |
| CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom) |
| 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-GS19670-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_A02_200_37 (hom) |
| var-GS06994-1100-36-ASM |
| 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_A07 from PGP sample 96240009 |
| CGI sample GS01173-DNA_B07 from PGP sample 61499538 |
| var-GS19669-1100-36-ASM |
| var-GS20509-1100-36-ASM (hom) |
| var-GS18940-1100-36-ASM (hom) |
| var-GS06985-1100-36-ASM |
| var-GS18956-1100-36-ASM |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom) |
| FHL5 S243R | insufficiently evaluated none, f=0.384 | unknown |
| CGI sample GS01173-DNA_C02 from PGP sample 10366372 |
| CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom) |
| hu34D5B9 exome |
| PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) |
| var-GS19700-1100-36-ASM |
| var-GS18501-1100-36-ASM |
| var-GS18504-1100-36-ASM |
| var-GS18558-1100-36-ASM |
| CGI sample GS000006909 (hom) |
| CGI sample GS01175-DNA_B05 from PGP sample 83494370 |
| CGI sample GS000005532 |
| var-GS19703-1100-36-ASM (hom) |
| hu232307 build 36 substitution variants |
| var-GS12004-1100-36-ASM (hom) |
| CGI sample GS01173-DNA_H06 from PGP sample 91708424 |
| CGI sample GS00253-DNA_G01_200_37 |
| var-GS19701-1100-36-ASM |
| var-GS21767-1100-36-ASM |
| var-GS19704-1100-36-ASM |
| var-GS10851-1100-36-ASM |
| CGI sample GS01173-DNA_D06 from PGP sample 69488604 |
| var-GS19834-1100-36-ASM |
| var-GS19239-1100-36-ASM (hom) |
| var-GS19017-1100-36-ASM |
| var-GS18502-1100-36-ASM (hom) |
| var-GS19648-1100-36-ASM (hom) |
| var-GS18537-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom) |
| CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom) |
| CGI sample GS00253-DNA_B01_200_37 |
| CGI sample GS01173-DNA_F06 from PGP sample 64191565 |
| CGI sample GS00253-DNA_F01_200_37 |
| var-GS20502-1100-36-ASM |
| var-GS19240-1100-36-ASM (hom) |
| hu728FFF build 36 substitution variants |
| var-GS18505-1100-36-ASM (hom) |
| var-GS19238-1100-36-ASM |
| var-GS06994-1100-36-ASM |
| CGI sample GS00253-DNA_H01_200_37 |
| 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 |
| var-GS18508-1100-36-ASM (hom) |
| var-GS19669-1100-36-ASM |
| var-GS19026-1100-36-ASM |
| var-GS06985-1100-36-ASM |
| var-GS18956-1100-36-ASM |
| FHOD1 S358C | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS19700-1100-36-ASM |
| FHOD1 S433F | insufficiently evaluated not reviewed | unknown |
| |
| FHOD1 R506Q | insufficiently evaluated none, f=0.007 | unknown |
| var-GS19701-1100-36-ASM |
| var-GS19129-1100-36-ASM |
| FHOD1 P533L | insufficiently evaluated none, f=0.043 | unknown |
| CGI sample GS00253-DNA_E01_200_37 |
| var-GS19025-1100-36-ASM |
| CGI sample GS000006909 |
| var-GS19649-1100-36-ASM |
| CGI sample GS01669-DNA_D02 from PGP sample 27316983 |
| CGI sample GS01175-DNA_D01 from PGP sample 31286272 |
| CGI sample GS00253-DNA_C01_200_37 |
| CGI sample GS01175-DNA_F02 from PGP sample 95788191 |
| FHOD1 R905P | insufficiently evaluated not reviewed | unknown |
| |
| FHOD1 R991W | insufficiently evaluated not reviewed, f=0.002 | unknown |
| var-GS18502-1100-36-ASM |
| FHOD1 V1034F | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01669-DNA_F02 from PGP sample 40767107 |
| FHOD1 HN1066QS | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01669-DNA_C07 from PGP sample 74521372 |
| FHOD3 I199V | insufficiently evaluated none, f=0.011 | unknown |
| var-GS18555-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom) |
| FHOD3 N405S | insufficiently evaluated not reviewed, f=0.001 | unknown |
| CGI sample GS00253-DNA_H01_200_37 |
| FHOD3 A535G | insufficiently evaluated none, f=0.143 | unknown |
| CGI sample GS00253-DNA_E01_200_37 |
| CGI sample GS01669-DNA_C07 from PGP sample 74521372 |
| CGI sample GS01175-DNA_G03 from PGP sample 92527586 |
| CGI sample GS01669-DNA_C05 from PGP sample 42408046 |
| CGI sample GS01173-DNA_F02 from PGP sample 70008981 |
| CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom) |
| CGI sample GS01175-DNA_B05 from PGP sample 83494370 |
| CGI sample GS00253-DNA_G01_200_37 |
| var-GS19649-1100-36-ASM |
| var-GS19648-1100-36-ASM |
| CGI sample GS01173-DNA_F06 from PGP sample 64191565 |
| var-GS20502-1100-36-ASM |
| var-GS06994-1100-36-ASM |
| CGI sample GS00253-DNA_H01_200_37 |
| FHOD3 P547S | insufficiently evaluated none, f=0.013 | unknown |
(3 web hits) | var-GS19704-1100-36-ASM |
| var-GS19834-1100-36-ASM |
| var-GS19239-1100-36-ASM |
| CGI sample GS00253-DNA_B02_200_37 |
| var-GS19240-1100-36-ASM |
| FHOD3 Q599R | insufficiently evaluated unknown, f=0.023 | unknown |
| CGI sample GS01173-DNA_C02 from PGP sample 10366372 |
| hu34D5B9 exome |
| CGI sample GS01173-DNA_F02 from PGP sample 70008981 |
| CGI sample GS01669-DNA_B03 from PGP sample 14427241 |
| CGI sample GS01669-DNA_B05 from PGP sample 86486261 |
| hu728FFF build 36 substitution variants |
| var-GS19669-1100-36-ASM |
| FHOD3 V647F | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01669-DNA_D02 from PGP sample 27316983 |
| FHOD3 P707L | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01173-DNA_B02 from PGP sample 94378523 |
| FHOD3 V874I | insufficiently evaluated not reviewed, f=0.003 | unknown |
| var-GS21767-1100-36-ASM |
| var-GS19026-1100-36-ASM |
| FHOD3 K909Shift | insufficiently evaluated not reviewed | unknown |
| CGI sample GS000006909 |
| FHOD3 V1151I | insufficiently evaluated none, f=0.352 | unknown |
| CGI sample GS00253-DNA_E01_200_37 |
| CGI sample GS01669-DNA_C07 from PGP sample 74521372 |
| CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom) |
| var-GS19025-1100-36-ASM |
| CGI sample GS01669-DNA_F02 from PGP sample 40767107 |
| hu34D5B9 exome |
| var-GS18942-1100-36-ASM (hom) |
| var-GS19020-1100-36-ASM |
| var-GS19700-1100-36-ASM (hom) |
| var-GS18501-1100-36-ASM |
| var-GS18504-1100-36-ASM |
| var-GS18558-1100-36-ASM |
| var-GS19735-1100-36-ASM |
| var-GS07357-1100-36-ASM |
| CGI sample GS000005532 |
| var-GS19703-1100-36-ASM (hom) |
| hu232307 build 36 substitution variants |
| var-GS12004-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom) |
| var-GS19704-1100-36-ASM |
| CGI sample GS00253-DNA_A01_200_37 |
| var-GS19834-1100-36-ASM |
| var-GS19239-1100-36-ASM |
| var-GS19017-1100-36-ASM (hom) |
| var-GS18502-1100-36-ASM |
| CGI sample GS01669-DNA_B05 from PGP sample 86486261 |
| var-GS19648-1100-36-ASM |
| var-GS18537-1100-36-ASM |
| CGI sample GS01669-DNA_D02 from PGP sample 27316983 |
| CGI sample GS00253-DNA_B02_200_37 |
| CGI sample GS01669-DNA_H05 from PGP sample 10971581 |
| CGI sample GS01175-DNA_D05 from PGP sample 1205491 |
| CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom) |
| var-GS19129-1100-36-ASM |
| hu728FFF build 36 substitution variants |
| var-GS18505-1100-36-ASM |
| 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 (hom) |
| CGI sample GS01173-DNA_B07 from PGP sample 61499538 |
| var-GS18508-1100-36-ASM |
| var-GS19669-1100-36-ASM |
| var-GS19026-1100-36-ASM |
| var-GS20509-1100-36-ASM |
| var-GS18940-1100-36-ASM (hom) |
| var-GS06985-1100-36-ASM |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 |
| FHOD3 G1367A | insufficiently evaluated not reviewed, f=0.004 | unknown |
| CGI sample GS01669-DNA_H05 from PGP sample 10971581 |
| CGI sample GS00253-DNA_A02_200_37 |
Page: 1 2 3 4 5 6 7 8 9 10
Total results: 93 |