| |
| Variant | Impact | Inheritance pattern | Summary | Genomes |
|---|
| MMP2 R101H | insufficiently evaluated pathogenic | unknown |
(22 web hits) | |
| MMP2 P133S | insufficiently evaluated not reviewed | unknown |
| |
| MMP2 P183S | insufficiently evaluated not reviewed | unknown |
| |
| MMP2 Y244X | insufficiently evaluated pathogenic | unknown |
(17 web hits) | |
| MMP2 M359I | insufficiently evaluated none | unknown |
| |
| MMP2 A397V | insufficiently evaluated none | unknown |
(1 web hit) | |
| MMP2 E404K | insufficiently evaluated pathogenic | unknown |
(13 web hits) | |
| MMP2 M409I | insufficiently evaluated none, f=0.007 | unknown |
| var-GS19239-1100-36-ASM |
| MMP2 A447V | insufficiently evaluated none, f=0.011 | unknown |
| var-GS19129-1100-36-ASM |
| var-GS18508-1100-36-ASM |
| MMP2 V571L | insufficiently evaluated none | unknown |
| |
| MMP2 G601V | insufficiently evaluated not reviewed, f=0.002 | unknown |
| var-GS19704-1100-36-ASM |
| MMP2 V621L | insufficiently evaluated none, f=0.006 | unknown |
| var-GS18501-1100-36-ASM |
| MMP20 K18T | insufficiently evaluated none, f=0.641 | unknown |
| 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 (hom) |
| hu34D5B9 exome |
| hu3215A7 build 36 substitution variants (hom) |
| PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) |
| var-GS18942-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_C05 from PGP sample 42408046 |
| var-GS19020-1100-36-ASM (hom) |
| 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 (hom) |
| var-GS19735-1100-36-ASM (hom) |
| 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-GS19703-1100-36-ASM (hom) |
| hu232307 build 36 substitution variants (hom) |
| var-GS12004-1100-36-ASM |
| 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 |
| var-GS19701-1100-36-ASM (hom) |
| CGI sample GS01175-DNA_A04 from PGP sample 13272228 |
| var-GS21767-1100-36-ASM (hom) |
| var-GS19704-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_A01_200_37 |
| CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom) |
| var-GS19834-1100-36-ASM (hom) |
| var-GS19239-1100-36-ASM (hom) |
| var-GS18502-1100-36-ASM |
| var-GS19649-1100-36-ASM |
| var-GS18555-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom) |
| var-GS19648-1100-36-ASM (hom) |
| var-GS18537-1100-36-ASM |
| CGI sample GS01669-DNA_D02 from PGP sample 27316983 |
| CGI sample GS00253-DNA_B02_200_37 (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 |
| CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom) |
| var-GS19129-1100-36-ASM |
| CGI sample GS00253-DNA_D01_200_37 (hom) |
| var-GS19240-1100-36-ASM |
| CGI sample GS00253-DNA_C01_200_37 |
| var-GS18526-1100-36-ASM (hom) |
| hu728FFF build 36 substitution variants |
| var-GS18947-1100-36-ASM |
| var-GS18505-1100-36-ASM |
| var-GS19670-1100-36-ASM |
| var-GS06994-1100-36-ASM (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_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 |
| 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 |
| var-GS18956-1100-36-ASM (hom) |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 |
| MMP20 I169L | insufficiently evaluated none, f=0.007 | unknown |
| var-GS19700-1100-36-ASM |
| var-GS18947-1100-36-ASM |
| MMP20 V275A | insufficiently evaluated none, f=0.406 | 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 (hom) |
| var-GS19025-1100-36-ASM |
| CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom) |
| CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom) |
| hu3215A7 build 36 substitution variants |
| 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-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 |
| CGI sample GS000005532 |
| var-GS19703-1100-36-ASM |
| hu232307 build 36 substitution variants (hom) |
| var-GS12004-1100-36-ASM |
| 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 |
| var-GS19701-1100-36-ASM (hom) |
| CGI sample GS01175-DNA_A04 from PGP sample 13272228 |
| var-GS21767-1100-36-ASM |
| var-GS19834-1100-36-ASM |
| var-GS19239-1100-36-ASM |
| var-GS19649-1100-36-ASM |
| var-GS18555-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom) |
| var-GS19648-1100-36-ASM (hom) |
| var-GS18537-1100-36-ASM |
| 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 |
| var-GS20502-1100-36-ASM |
| CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom) |
| var-GS19129-1100-36-ASM |
| CGI sample GS00253-DNA_D01_200_37 (hom) |
| var-GS18526-1100-36-ASM |
| hu728FFF build 36 substitution variants |
| var-GS19670-1100-36-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 (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-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 |
| MMP20 T281N | insufficiently evaluated none, f=0.406 | 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 (hom) |
| var-GS19025-1100-36-ASM |
| CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom) |
| CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom) |
| hu3215A7 build 36 substitution variants |
| 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-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 |
| CGI sample GS000005532 |
| var-GS19703-1100-36-ASM |
| hu232307 build 36 substitution variants (hom) |
| var-GS12004-1100-36-ASM |
| 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 |
| var-GS19701-1100-36-ASM (hom) |
| CGI sample GS01175-DNA_A04 from PGP sample 13272228 |
| var-GS21767-1100-36-ASM |
| var-GS19834-1100-36-ASM |
| var-GS19239-1100-36-ASM |
| var-GS19649-1100-36-ASM |
| var-GS18555-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom) |
| var-GS19648-1100-36-ASM (hom) |
| var-GS18537-1100-36-ASM |
| 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 |
| var-GS20502-1100-36-ASM |
| CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom) |
| var-GS19129-1100-36-ASM |
| CGI sample GS00253-DNA_D01_200_37 (hom) |
| var-GS18526-1100-36-ASM |
| hu728FFF build 36 substitution variants |
| var-GS19670-1100-36-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 (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-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 |
| MMP21 V191A | insufficiently evaluated none, f=0.784 | unknown |
| CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom) |
| CGI sample GS01173-DNA_C02 from PGP sample 10366372 |
| CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom) |
| 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 (hom) |
| var-GS18942-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_C05 from PGP sample 42408046 |
| CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom) |
| var-GS19735-1100-36-ASM |
| CGI sample GS01173-DNA_G02 from PGP sample 67180598 |
| CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom) |
| CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom) |
| CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom) |
| var-GS19704-1100-36-ASM (hom) |
| var-GS10851-1100-36-ASM (hom) |
| CGI sample GS01173-DNA_D06 from PGP sample 69488604 |
| var-GS18555-1100-36-ASM |
| CGI sample GS01669-DNA_B05 from PGP sample 86486261 |
| var-GS18537-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom) |
| CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom) |
| CGI sample GS01175-DNA_D05 from PGP sample 1205491 |
| 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) |
| var-GS18505-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_H01_200_37 (hom) |
| CGI sample GS01669-DNA_A04 from PGP sample 08188426 |
| 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-GS20509-1100-36-ASM (hom) |
| var-GS18940-1100-36-ASM |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 |
| MMP21 A454V | insufficiently evaluated none, f=0.029 | unknown |
| var-GS19020-1100-36-ASM |
| CGI sample GS00253-DNA_B02_200_37 |
| var-GS19669-1100-36-ASM |
| var-GS19026-1100-36-ASM |
| MMP23A R8Shift | insufficiently evaluated not reviewed | unknown |
| var-GS19026-1100-36-ASM |
| MMP23A R55W | insufficiently evaluated not reviewed | unknown |
| |
| MMP23A S58P | insufficiently evaluated not reviewed | unknown |
| var-GS21767-1100-36-ASM |
| MMP23B R3G | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01175-DNA_B01 from PGP sample 86206034 |
| MMP24 A3E | insufficiently evaluated none | unknown |
(1 web hit) | |
| MMP24 F64G | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS20502-1100-36-ASM |
| MMP24 V344I | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01173-DNA_C02 from PGP sample 10366372 |
| MMP24 N508D | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS19238-1100-36-ASM |
| MMP24 R511H | insufficiently evaluated not reviewed, f=0.023 | unknown |
| var-GS19700-1100-36-ASM |
| var-GS18504-1100-36-ASM |
| var-GS19239-1100-36-ASM |
| MMP25 R59H | insufficiently evaluated not reviewed, f=0.002 | unknown |
| |
| MMP25 M92V | insufficiently evaluated not reviewed | unknown |
| var-GS19703-1100-36-ASM |
| MMP25 P168A | insufficiently evaluated none, f=0.035 | unknown |
| var-GS19025-1100-36-ASM (hom) |
| var-GS19020-1100-36-ASM |
| var-GS18501-1100-36-ASM |
| var-GS18504-1100-36-ASM |
| var-GS21767-1100-36-ASM |
| CGI sample GS00253-DNA_B02_200_37 (hom) |
| var-GS19026-1100-36-ASM |
| MMP25 E200G | insufficiently evaluated not reviewed, f=0.003 | unknown |
| CGI sample GS00253-DNA_D01_200_37 |
| MMP25 D226N | insufficiently evaluated none, f=0.039 | unknown |
| var-GS19025-1100-36-ASM (hom) |
| var-GS19020-1100-36-ASM |
| var-GS18501-1100-36-ASM |
| var-GS18504-1100-36-ASM |
| var-GS21767-1100-36-ASM |
| CGI sample GS00253-DNA_B02_200_37 (hom) |
| var-GS19026-1100-36-ASM |
| MMP25 P351Shift | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01175-DNA_D05 from PGP sample 1205491 |
| MMP25 P379L | insufficiently evaluated not reviewed | unknown |
| var-GS19701-1100-36-ASM |
| MMP25 E435EE | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01173-DNA_F02 from PGP sample 70008981 |
| MMP25 G438A | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01173-DNA_F02 from PGP sample 70008981 |
| CGI sample GS01175-DNA_B05 from PGP sample 83494370 |
| MMP25 G541E | insufficiently evaluated none, f=0.112 | unknown |
| CGI sample GS01669-DNA_C07 from PGP sample 74521372 |
| MMP26 K43E | insufficiently evaluated none, f=0.099 | unknown |
| var-GS19020-1100-36-ASM |
| var-GS19700-1100-36-ASM |
| var-GS18501-1100-36-ASM |
| var-GS19701-1100-36-ASM |
| var-GS19704-1100-36-ASM (hom) |
| var-GS19834-1100-36-ASM |
| var-GS19239-1100-36-ASM |
| var-GS19017-1100-36-ASM |
| var-GS18502-1100-36-ASM |
| var-GS18555-1100-36-ASM |
| var-GS19648-1100-36-ASM |
| var-GS18537-1100-36-ASM |
| CGI sample GS00253-DNA_B02_200_37 |
| CGI sample GS00253-DNA_F01_200_37 |
| CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom) |
| var-GS19240-1100-36-ASM |
| var-GS18526-1100-36-ASM |
| var-GS18505-1100-36-ASM (hom) |
| var-GS19238-1100-36-ASM |
| CGI sample GS01669-DNA_A04 from PGP sample 08188426 |
| var-GS19026-1100-36-ASM |
| var-GS18940-1100-36-ASM |
| var-GS18517-1100-36-ASM |
| MMP26 S46L | insufficiently evaluated not reviewed, f=0.007 | unknown |
| CGI sample GS00253-DNA_A02_200_37 |
| MMP26 T50I | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS18942-1100-36-ASM |
| MMP26 L77P | insufficiently evaluated none | unknown |
| |
| MMP26 G172D | insufficiently evaluated not reviewed, f=0.001 | unknown |
| var-GS21767-1100-36-ASM |
| MMP26 I260M | insufficiently evaluated none, f=0.022 | unknown |
(5 web hits) | var-GS19129-1100-36-ASM (hom) |
| MMP27 R22W | insufficiently evaluated none, f=0.101 | unknown |
| CGI sample GS01669-DNA_F02 from PGP sample 40767107 |
| CGI sample GS01175-DNA_H01 from PGP sample 94797469 |
| hu3215A7 build 36 substitution variants |
| var-GS19735-1100-36-ASM |
| var-GS19703-1100-36-ASM |
| var-GS12004-1100-36-ASM |
| CGI sample GS01173-DNA_H06 from PGP sample 91708424 |
| var-GS19834-1100-36-ASM (hom) |
| var-GS18502-1100-36-ASM |
| var-GS19649-1100-36-ASM |
| var-GS18537-1100-36-ASM |
| CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom) |
| CGI sample GS00253-DNA_F01_200_37 |
| CGI sample GS01175-DNA_B01 from PGP sample 86206034 |
| var-GS19240-1100-36-ASM |
| CGI sample GS00253-DNA_C01_200_37 |
| var-GS18526-1100-36-ASM |
| hu728FFF build 36 substitution variants |
| var-GS19238-1100-36-ASM |
| CGI sample GS01173-DNA_B02 from PGP sample 94378523 |
| var-GS19026-1100-36-ASM |
| var-GS18956-1100-36-ASM |
| MMP27 T24M | insufficiently evaluated none, f=0.800 | 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 (hom) |
| var-GS19025-1100-36-ASM |
| CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom) |
| CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom) |
| 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 |
| CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom) |
| var-GS19700-1100-36-ASM (hom) |
| var-GS18501-1100-36-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-GS07357-1100-36-ASM |
| CGI sample GS000005532 |
| 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 |
| CGI sample GS00253-DNA_G01_200_37 (hom) |
| var-GS19701-1100-36-ASM (hom) |
| CGI sample GS01175-DNA_A04 from PGP sample 13272228 |
| var-GS21767-1100-36-ASM |
| 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 |
| var-GS19017-1100-36-ASM (hom) |
| var-GS18502-1100-36-ASM (hom) |
| var-GS19649-1100-36-ASM |
| var-GS18555-1100-36-ASM |
| CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom) |
| 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 (hom) |
| 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 (hom) |
| var-GS20502-1100-36-ASM (hom) |
| CGI sample GS01175-DNA_B01 from PGP sample 86206034 |
| CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom) |
| var-GS19129-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_D01_200_37 |
| var-GS19240-1100-36-ASM |
| CGI sample GS00253-DNA_C01_200_37 (hom) |
| var-GS18526-1100-36-ASM |
| hu728FFF build 36 substitution variants (hom) |
| var-GS18947-1100-36-ASM |
| var-GS18505-1100-36-ASM |
| var-GS19238-1100-36-ASM |
| var-GS19670-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_A02_200_37 (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 |
| 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 (hom) |
| CGI sample GS01173-DNA_B07 from PGP sample 61499538 |
| var-GS18508-1100-36-ASM |
| var-GS19669-1100-36-ASM (hom) |
| var-GS19026-1100-36-ASM |
| var-GS20509-1100-36-ASM |
| var-GS18940-1100-36-ASM |
| var-GS06985-1100-36-ASM (hom) |
| var-GS18956-1100-36-ASM (hom) |
| var-GS18517-1100-36-ASM |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 |
| MMP27 M30V | insufficiently evaluated none, f=0.733 | 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 |
| 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 |
| hu3215A7 build 36 substitution variants (hom) |
| PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) |
| var-GS18942-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_C05 from PGP sample 42408046 |
| var-GS19020-1100-36-ASM (hom) |
| CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom) |
| var-GS19700-1100-36-ASM (hom) |
| var-GS18501-1100-36-ASM |
| var-GS18504-1100-36-ASM (hom) |
| var-GS18558-1100-36-ASM (hom) |
| var-GS19735-1100-36-ASM |
| CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom) |
| CGI sample GS000006909 |
| CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom) |
| CGI sample GS000005532 |
| 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 |
| CGI sample GS01669-DNA_B03 from PGP sample 14427241 |
| CGI sample GS00253-DNA_G01_200_37 |
| var-GS19701-1100-36-ASM (hom) |
| var-GS21767-1100-36-ASM (hom) |
| var-GS19704-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_A01_200_37 |
| 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 |
| var-GS18555-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom) |
| var-GS19648-1100-36-ASM (hom) |
| var-GS18537-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_D02 from PGP sample 27316983 |
| CGI sample GS00253-DNA_B02_200_37 (hom) |
| CGI sample GS00253-DNA_B01_200_37 (hom) |
| 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 (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 |
| var-GS19240-1100-36-ASM (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 (hom) |
| var-GS18505-1100-36-ASM (hom) |
| var-GS19238-1100-36-ASM (hom) |
| var-GS19670-1100-36-ASM (hom) |
| 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_B04 from PGP sample 88590671 |
| 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 |
| var-GS18508-1100-36-ASM (hom) |
| var-GS19669-1100-36-ASM |
| var-GS19026-1100-36-ASM (hom) |
| var-GS20509-1100-36-ASM |
| var-GS18940-1100-36-ASM (hom) |
| var-GS06985-1100-36-ASM (hom) |
| var-GS18956-1100-36-ASM (hom) |
| var-GS18517-1100-36-ASM (hom) |
| MMP27 K77R | insufficiently evaluated not reviewed, f=0.017 | unknown |
| CGI sample GS01175-DNA_H01 from PGP sample 94797469 |
| var-GS12004-1100-36-ASM |
| CGI sample GS00253-DNA_F01_200_37 |
| CGI sample GS00253-DNA_C01_200_37 |
| MMP27 R124X | insufficiently evaluated not reviewed, f=0.000 | unknown |
| var-GS06994-1100-36-ASM |
| MMP27 A130V | insufficiently evaluated not reviewed | unknown |
| |
| MMP27 H226R | insufficiently evaluated not reviewed | unknown |
| |
| MMP27 E266V | insufficiently evaluated none, f=0.384 | unknown |
| CGI sample GS01669-DNA_C07 from PGP sample 74521372 |
| CGI sample GS01175-DNA_G03 from PGP sample 92527586 |
| var-GS19025-1100-36-ASM |
| 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) |
| CGI sample GS01669-DNA_C05 from PGP sample 42408046 |
| var-GS18501-1100-36-ASM |
| var-GS18504-1100-36-ASM |
| var-GS19735-1100-36-ASM (hom) |
| CGI sample GS000006909 |
| var-GS07357-1100-36-ASM |
| CGI sample GS000005532 |
| var-GS19703-1100-36-ASM |
| CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom) |
| 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) |
| var-GS10851-1100-36-ASM (hom) |
| var-GS19649-1100-36-ASM (hom) |
| var-GS18555-1100-36-ASM |
| var-GS18537-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom) |
| CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom) |
| CGI sample GS00253-DNA_F01_200_37 |
| CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom) |
| CGI sample GS01175-DNA_D01 from PGP sample 31286272 |
| CGI sample GS00253-DNA_C01_200_37 (hom) |
| var-GS18526-1100-36-ASM (hom) |
| hu728FFF build 36 substitution variants |
| var-GS18505-1100-36-ASM |
| var-GS19238-1100-36-ASM |
| CGI sample GS00253-DNA_A02_200_37 |
| var-GS06994-1100-36-ASM |
| CGI sample GS00253-DNA_H01_200_37 |
| 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_B07 from PGP sample 61499538 |
| var-GS18508-1100-36-ASM |
| var-GS20509-1100-36-ASM |
| var-GS18940-1100-36-ASM |
| var-GS18956-1100-36-ASM |
| var-GS18517-1100-36-ASM |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom) |
| MMP27 W304L | insufficiently evaluated none, f=0.006 | unknown |
(2 web hits) | CGI sample GS000005532 |
| CGI sample GS01175-DNA_A04 from PGP sample 13272228 |
| var-GS19649-1100-36-ASM |
| CGI sample GS01175-DNA_F02 from PGP sample 95788191 |
| var-GS20509-1100-36-ASM |
| MMP27 D447N | insufficiently evaluated none, f=0.223 | unknown |
| CGI sample GS01669-DNA_C07 from PGP sample 74521372 |
| 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) |
| CGI sample GS01669-DNA_C05 from PGP sample 42408046 |
| var-GS18501-1100-36-ASM |
| var-GS19735-1100-36-ASM |
| CGI sample GS000006909 |
| var-GS07357-1100-36-ASM |
| 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) |
| var-GS10851-1100-36-ASM (hom) |
| var-GS19649-1100-36-ASM |
| CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom) |
| CGI sample GS01175-DNA_D01 from PGP sample 31286272 |
| CGI sample GS00253-DNA_C01_200_37 |
| CGI sample GS00253-DNA_A02_200_37 |
| var-GS06994-1100-36-ASM |
| CGI sample GS00253-DNA_H01_200_37 |
| CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom) |
| CGI sample GS01175-DNA_B04 from PGP sample 88590671 |
| CGI sample GS01173-DNA_B07 from PGP sample 61499538 |
| var-GS20509-1100-36-ASM |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom) |
| MMP27 G501D | insufficiently evaluated not reviewed, f=0.002 | unknown |
| |
| MMP28 A38V | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01175-DNA_D01 from PGP sample 31286272 |
| MMP28 K129E | insufficiently evaluated not reviewed, f=0.000 | unknown |
| CGI sample GS00253-DNA_C01_200_37 |
| MMP28 H145R | insufficiently evaluated not reviewed, f=0.008 | unknown |
| CGI sample GS00253-DNA_G01_200_37 |
| MMP28 G152D | insufficiently evaluated not reviewed, f=0.010 | unknown |
| var-GS19703-1100-36-ASM |
| var-GS19129-1100-36-ASM |
| MMP28 P154L | insufficiently evaluated none | unknown |
| |
| MMP28 P452S | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01175-DNA_A04 from PGP sample 13272228 |
| MMP28 A467V | insufficiently evaluated none | unknown |
| |
| MMP28 P473L | insufficiently evaluated none | unknown |
| |
| MMP28 Q495R | insufficiently evaluated none | unknown |
| |
Page: 1 2 3 4 5 6 7
Total results: 63 |