Custom Name | dbSNP id | Position | Length | Taxonomy | Molecule | Class | Build | Flanking Sequence - Left | Alleles | Flanking Sequence - Right | MAF | MAF Species | Chromosome | Annotation | Reference | Source | Scores (seq.qual/info) |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BGISUSV0000211646 | 164101 | 61 | 9823 | CTCCAGGCGCATCTCCCAGGTGTCCTCCGG | A/G | GAGACCGAGTACAACCCTGGAGAGGCCCGT | 13 | Q6UX91_HUMAN|Change amino acid:s | SANGERun|bE25C13 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211660 | 61 | 9823 | ACAGCAGAAGAATCTGGAAGCAGCACTCCC | T/C | GGCAGGTGGGGGGGTCGCTCTGCAGAGACC | 7 | MORF4L2|Change amino acid:s | SANGERun|bE204O9 | Miguel Perez (PIGGIS) | 60 / 50 | |||||||
BGISUSV0000211661 | 61 | 9823 | CCGGCAGGTGGGGGGGTCGCTCTGCAGAGA | A/C | CCCCCCTTCGGGGTCCGTGAGGAAGACCAG | 7 | MORF4L2|Change amino acid:a | SANGERun|bE204O9 | Miguel Perez (PIGGIS) | 60 / 50 | |||||||
BGISUSV0000211662 | 61 | 9823 | TCGCTCTGCAGAGACCCCCCCTTCGGGGTC | T/C | GTGAGGAAGACCAGAAAGAACAAACAGAAG | 7 | MORF4L2|Change amino acid:s | SANGERun|bE204O9 | Miguel Perez (PIGGIS) | 60 / 50 | |||||||
BGISUSV0000211663 | 61 | 9823 | AAAGTGAAGATTCCTGAAGAATTAAAACCA | T/G | GGCTAGTTGAGGACTGGGACTTAGTTACCA | 7 | MORF4L2|Change amino acid:a | SANGERun|bE204O9 | Miguel Perez (PIGGIS) | 60 / 50 | |||||||
BGISUSV0000211664 | 61 | 9823 | TCTGGAAGAGTACGCAAATTGCAAGAAATC | A/G | CAGGGAAATGTTGATAATAAGGAGTATGCG | 7 | MORF4L2|Change amino acid:s | SANGERun|bE204O9 | Miguel Perez (PIGGIS) | 60 / 50 | |||||||
BGISUSV0000211665 | 61 | 9823 | ACAGCAGAAGAATCTGGAAGCAGCACTCCC | T/C | GGCAGGTGGGGGGGTCGCTCTGCAGAGACC | 7 | MORF4L2|Change amino acid:s | SANGERun|bE204O9 | Miguel Perez (PIGGIS) | 60 / 50 | |||||||
BGISUSV0000211666 | 61 | 9823 | CCGGCAGGTGGGGGGGTCGCTCTGCAGAGA | A/C | CCCCCCTTCGGGGTCCGTGAGGAAGACCAG | 7 | MORF4L2|Change amino acid:a | SANGERun|bE204O9 | Miguel Perez (PIGGIS) | 60 / 50 | |||||||
BGISUSV0000211667 | 61 | 9823 | TCGCTCTGCAGAGACCCCCCCTTCGGGGTC | T/C | GTGAGGAAGACCAGAAAGAACAAACAGAAG | 7 | MORF4L2|Change amino acid:s | SANGERun|bE204O9 | Miguel Perez (PIGGIS) | 60 / 50 | |||||||
BGISUSV0000211668 | 61 | 9823 | AAAGTGAAGATTCCTGAAGAATTAAAACCA | T/G | GGCTAGTTGAGGACTGGGACTTAGTTACCA | 7 | MORF4L2|Change amino acid:a | SANGERun|bE204O9 | Miguel Perez (PIGGIS) | 60 / 50 | |||||||
BGISUSV0000211669 | 61 | 9823 | TCTGGAAGAGTACGCAAATTGCAAGAAATC | A/G | CAGGGAAATGTTGATAATAAGGAGTATGCG | 7 | MORF4L2|Change amino acid:s | SANGERun|bE204O9 | Miguel Perez (PIGGIS) | 60 / 50 | |||||||
BGISUSV0000211670 | 78212 | 61 | 9823 | CAAGGATGGAGATGGGAAAATATCCTTCCA | C/G | GAATTCTGCGCTGTGGCCAGAAACCTGAAG | 1 | PPP3R2|Change amino acid:a | SANGERun|bE458G17 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211688 | 186765 | 61 | 9823 | CCTGTACCGCCAGGTGGCCCGTCAGTCCAA | T/C | ACCAGCAACATCTTCTTGTCCCCAGTGAGC | 7 | SERPINA1|Change amino acid:s | SANGERun|bE194J4 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211689 | 186633 | 61 | 9823 | ACAGTTCAACCTCACTGAGAAAGCAGAGGC | A/G | GAGATCCACGAAGGCTTCCAGCATCTTCTC | 7 | SERPINA1|Change amino acid:s | SANGERun|bE194J4 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211690 | 186560 | 61 | 9823 | CCAGCCAGACAACCAGCTGCAACTGACCAC | C/G | GGCAACGGCCTGTTCATTGACAAGAAGGCC | 7 | SERPINA1|Change amino acid:s | SANGERun|bE194J4 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211691 | 186537 | 61 | 9823 | CTGACCACCGGCAACGGCCTGTTCATTGAC | A/G | AGAAGGCCAAGCTGGTGCCCAAGTTTTTGG | 7 | SERPINA1|Change amino acid:a | SANGERun|bE194J4 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211692 | 186380 | 61 | 9823 | AAAAGGGCTCCCAGGGAAAAATTGTGGATT | T/G | GGTAGATGAGCTTGACAAAGACACCGTATT | 7 | SERPINA1|Change amino acid:a | SANGERun|bE194J4 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211693 | 121821 | 61 | 9823 | CAGCCATTGACAAGCGGTCGGGGGAGAAGG | T/G | GGCCATCAAGAAGCTGAGCCGGCCCTTCCA | 7 | MAPK13|Change amino acid:a | SANGERun|bE7K1 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211694 | 121836 | 61 | 9823 | GGTCGGGGGAGAAGGTGGCCATCAAGAAGC | T/G | GAGCCGGCCCTTCCAGTCTGAGATCTTGGC | 7 | MAPK13|Change amino acid:a | SANGERun|bE7K1 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211695 | 121864 | 61 | 9823 | GCTGAGCCGGCCCTTCCAGTCTGAGATCTT | T/G | GCCAAGCGCGCCTACCGGGAGCTGATGCTG | 7 | MAPK13|Change amino acid:a | SANGERun|bE7K1 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211716 | 89543 | 61 | 9823 | GCCCTCTGCAAGGGCCTGATCTTGGAGCTC | A/G | ACCAGGCACTGCAGGCCTTCGAGGAGGACC | 14 | ECHS1|Change amino acid:a | SANGERun|bE121F20 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211717 | 89575 | 61 | 9823 | CCAGGCACTGCAGGCCTTCGAGGAGGACCC | A/G | GCCGTGGGCGCCATCGTCCTCACAGGCGGG | 14 | ECHS1|Change amino acid:s | SANGERun|bE121F20 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211718 | 36916 | 61 | 9823 | GTACCAAGTTGAATATGCCATGGAAGCTAT | T/G | GGACATGCAGGCACCTGTTTGGGAATTTTA | 7 | PSMA4|Change amino acid:a | SANGERun|bE238I15 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211719 | 36869 | 61 | 9823 | GTTTGGGAATTTTAGCAAATGATGGTGTTT | T/C | GCTTGCAGCAGAGAGGCGCAACATCCACAA | 7 | PSMA4|Change amino acid:a | SANGERun|bE238I15 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211722 | 33875 | 61 | 9823 | ACGTCCTTTTGGTGTTTCGTTGCTTTACAT | T/G | GGCTGGGATAAACACTATGGCTTTCAGCTC | 7 | PSMA4|Change amino acid:a | SANGERun|bE238I15 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211723 | 92130 | 61 | 9823 | TCTTGTTAGCAAAATTTTTCCTGTCGAGAC | T/G | CTGGTCGAAGAAGCCATCCAGTGTGCAGAA | 14 | ECHS1|Change amino acid:s | SANGERun|bE121F20 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211724 | 92158 | 61 | 9823 | ACGCTGGTCGAAGAAGCCATCCAGTGTGCA | A/G | AAAAAATTGCCAGCTACTCTAAGATTGTCA | 14 | ECHS1|Change amino acid:a | SANGERun|bE121F20 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211725 | 92187 | 61 | 9823 | AGAAAAAATTGCCAGCTACTCTAAGATTGT | T/C | ACAGCAATGGCCAAGGAGTCAGTGAACGCA | 14 | ECHS1|Change amino acid:s | SANGERun|bE121F20 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211727 | 37099 | 61 | 9823 | TTTAAAAACTGTCTTGGAAAATTCTGGAAA | A/G | AGGAGGATAGTGTTTTCTTCATTTGATGCA | 17 | GDE5_HUMAN|Change amino acid:s | SANGERun|bE351G21 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211728 | 38427 | 61 | 9823 | AGCTAAGGGACTGGTCATATTCTGCTGGGG | T/C | GATGATACCAACGATCCTGAAAACAGAAAG | 17 | GDE5_HUMAN|Change amino acid:s | SANGERun|bE351G21 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211729 | 24532 | 61 | 9823 | AATGGGACAAAAAGACAGCTACGTGGGTGA | T/C | GAAGCCCAAAGCAAAAGAGGAATCCTGACC | 14 | ACTA2|Change amino acid:s | SANGERun|bE203A14 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211730 | 145227 | 61 | 9823 | GCAACGACTACTGTGGGTGTTGCATATGCT | A/G | CCAAGAATGCCGTCTCCCAGTTTGTTTCCA | 4 | UQCRFSL1|Change amino acid:a | SANGERun|bE411F3 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211731 | 145204 | 61 | 9823 | ATATGCTGCCAAGAATGCCGTCTCCCAGTT | T/G | GTTTCCAGCATGAGTGCTTCTGCTGATGTG | 4 | UQCRFSL1|Change amino acid:a | SANGERun|bE411F3 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211732 | 145089 | 61 | 9823 | GTTTGTGCGTCACAGAACCAAGAAGGAAAT | T/G | GACCAGGAGGCTGCAGTTGAAGTGTCCCAG | 4 | UQCRFSL1|Change amino acid:a | SANGERun|bE411F3 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211733 | 145089 | 61 | 9823 | GGTTATCTTGATAGGTGTTTGTACTCATCT | T/G | GGTTGTGTGCCCATTGCAAATGCAGGAGAT | 4 | UQCRFSL1|Change amino acid:s | SANGERun|bE411F3 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211752 | 113662 | 61 | 9823 | TGAACCTCTCATTAAAAAGTTGAAGAAACC | T/G | CCTACAGATGAAGAGTTAAAGGAAACAGTA | 7 | DEK|Change amino acid:s | SANGERas|bE196G4 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211755 | 146671 | 61 | 9823 | TGGAGCTGAAGCTACGGATCTTCCGCCTTT | T/G | GGATGTTCGTTCTGTGCTGTCTTTGTCTGC | 5 | FBXO7|Change amino acid:a | SANGERun|bE210C11 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211767 | 80998 | 61 | 9823 | CCTATATCTCCCTCATTGCCGAGAACTCCA | T/C | AAATGCCCCCTACGTGCTCATCGGAACTGG | X | TSPAN7|Change amino acid:a | SANGERun|bE49J12 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211768 | 81056 | 61 | 9823 | TGGCACCACTATCGTCGTTTTTGGCCTGTT | T/C | GGATGCTTTGCCACATGCCGTGGTAGCCCA | X | TSPAN7|Change amino acid:s | SANGERun|bE49J12 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211769 | 88991 | 61 | 9823 | AACTTACACGGACGCCATGCAGAATTACAA | T/G | GGCAACGACGAGAGGAGCCGGGCTGTGGAT | X | TSPAN7|Change amino acid:a | SANGERun|bE49J12 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211775 | 3938 | 61 | 9823 | GATCTCCAAGCCCGTCAAGTTTGAGCTTTC | T/C | GGCTGCACCAGCGTGAAGACATACCGGGCT | 1 | CTGF|Change amino acid:s | SANGERun|bE395K18 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211776 | 3941 | 61 | 9823 | CTCCAAGCCCGTCAAGTTTGAGCTTTCCGG | T/C | TGCACCAGCGTGAAGACATACCGGGCTAAG | 1 | CTGF|Change amino acid:s | SANGERun|bE395K18 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211777 | 3950 | 61 | 9823 | CGTCAAGTTTGAGCTTTCCGGCTGCACCAG | T/C | GTGAAGACATACCGGGCTAAGTTCTGCGGG | 1 | CTGF|Change amino acid:s | SANGERun|bE395K18 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211778 | 4115 | 61 | 9823 | CAAGACTTGTGCCTGCCATTACAACTGCCC | C/G | GGGGACAATGACATCTTCGAGTCCCTGTAC | 1 | CTGF|Change amino acid:s | SANGERun|bE395K18 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211779 | 4118 | 61 | 9823 | GACTTGTGCCTGCCATTACAACTGCCCGGG | T/G | GACAATGACATCTTCGAGTCCCTGTACTAC | 1 | CTGF|Change amino acid:s | SANGERun|bE395K18 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211787 | 16696 | 61 | 9823 | CAGCTCTGGCCTCAACATCTACAACCTCTA | T/C | GCCCCGTGTGCTGGAGGGGTGCCCAGCCAT | 17 | CTSA|Change amino acid:s | SANGERun|bE441N18 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211792 | 61 | 9823 | GGGGCCGGGGGCGGCCCGGGGGGGGGCCCG | A/G | GGCCGGGGCCCTGCCTGAGGCGGGAGCTGA | 4 | UBE2Q1|Change amino acid:a | SANGERun|bE42I4 | Miguel Perez (PIGGIS) | 60 / 50 | |||||||
BGISUSV0000211794 | 36296 | 61 | 9823 | GGATGTTCTGGATTTGGTACCAGTATTCTT | A/C | GTTAATGCTTCGGAGCTCAGCCAATAGGCC | 4 | NR1I3|Change amino acid:a | SANGERun|bE293N2 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211796 | 22135 | 61 | 9823 | CCAACCGCTCCAGAGCGGTCAAGTGCTCCC | T/C | TCCGCTACACCCACTCCAGCTGCAGCCCCC | 17 | NCOA5|Change amino acid:s | SANGERun|bE446C24 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211797 | 22135 | 61 | 9823 | CCAACCGCTCCAGAGCGGTCAAGTGCTCCC | T/C | TCCGCTACACCCACTCCAGCTGCAGCCCCC | 17 | NCOA5|Change amino acid:s | SANGERun|bE446C24 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211798 | 20785 | 61 | 9823 | TTAAAGAACAAGAAATGAAGTGGACTGACT | T/G | GGCCTTACAGTATCTCCATGAGAATGTACC | 13 | ANAPC13|Change amino acid:a | SANGERun|bE72F24 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211799 | 20785 | 61 | 9823 | TTAAAGAACAAGAAATGAAGTGGACTGACT | T/G | GGCCTTACAGTATCTCCATGAGAATGTACC | 13 | ANAPC13|Change amino acid:a | SANGERun|bE72F24 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211800 | 81091 | 61 | 9823 | GGAAACCAAGCAAAAGCACATCTGCAGCAG | A/G | TGACTTAGAAATTCAGTTGTTTGAATCAAG | 12 | EVI2B|Change amino acid:a | SANGERun|bE13F24 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211801 | 81158 | 61 | 9823 | GAAAACATTAGAGATTCCAACAACCCCAAA | A/G | CAGAGAAAATAAAAGATCAAGCAAATGGTA | 12 | EVI2B|Change amino acid:a | SANGERun|bE13F24 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211804 | 92274 | 61 | 9823 | TCTTCACCAAGGTGGTGGATTTGGGGGCTG | T/C | GTCTCTGAAGCTGGAGATCTGGGACACGGC | 15 | RAB17|Change amino acid:a | SANGERun|bE393D3 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211805 | 92356 | 61 | 9823 | CGTCTGCCACCTCTACTTCAGGGGCGCCAA | T/C | GCTGCGCTTGTGGTGTATGACGTCACCAGG | 15 | RAB17|Change amino acid:s | SANGERun|bE393D3 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211806 | 92847 | 61 | 9823 | CAAGGCGCAGCAGTGGCTCAAGGACCTGGA | A/G | GAGGAGTTCCGCCTGGGAGACGTGGTGGTG | 15 | RAB17|Change amino acid:s | SANGERun|bE393D3 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211807 | 92865 | 61 | 9823 | CAAGGACCTGGAGGAGGAGTTCCGCCTGGG | A/T | GACGTGGTGGTGATGCTGGTTGGCAACAAG | 15 | RAB17|Change amino acid:s | SANGERun|bE393D3 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211817 | 5540 | 61 | 9823 | GCAGTGTTTCTTAGTCCTTCGTCAGCAGCA | A/G | TTTAACGTCCAGGCTCTTGTGGCGGTGGGA | 15 | DARS|Change amino acid:s | SANGERun|bE461D1 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211819 | 88513 | 61 | 9823 | GGCTACAGTGTGGATGAACTGGAGGACCAC | A/G | TCTCCCAGCTCCACGAGTATAATGACATCA | 1 | C9orf119|Change amino acid:a | SANGERun|bE282L14 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211820 | 15753 | 61 | 9823 | TTTGAGTTAACAAATGTTGACATGGTTCAG | T/G | GTGACGTGTGCTCATTATCTAACAAAATGT | 15 | METTL5|Change amino acid:a | SANGERun|bE524C22 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211822 | 46222 | 61 | 9823 | CTACTGCGAAGCGCATGCCAAGGAAGATCC | T/C | CTCCTGACACCTGTCCCGGCTTCAGAGAAC | 1 | GNG2|Change amino acid:s | SANGERun|bE57A15 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211827 | 54305 | 61 | 9823 | GAGTTATCTTCCTAATGCACACCTGGAATG | T/C | CATTATACCTTAACTCCATATATCCATCCA | 18 | TAX1BP1|Change amino acid:s | SANGERun|bE257M20 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211828 | 48964 | 61 | 9823 | GAGTACTGCTCGTGATTATTATACATTTTT | A/G | TGGTCCCCTATGCCTGAACACTATGTAGAA | 18 | TAX1BP1|Change amino acid:s | SANGERun|bE257M20 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211829 | 23183 | 61 | 9823 | TGCGGGATAAAACAATGGCAGATCTGCATA | T/C | TGCACGCTTGGAAAATGAGAAAGTAAAAAA | 18 | TAX1BP1|Change amino acid:a | SANGERun|bE257M20 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211830 | 2230 | 61 | 9823 | TGAAATGACCAAAGAAATTGCTGACAAGAC | A/C | GAAAAGTATAATAAATGTAAACAACTCTTG | 18 | TAX1BP1|Change amino acid:s | SANGERun|bE400O15 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
BGISUSV0000211648 | 96860 | 60 | 9823 | AGAGGTATGAAGGTCATTGAAAACCGAGC | T/C | TTAAAAGATGAGGAAAAAATGGAACTCCAG | 4 | TPM3|Change amino acid:s | SANGERun|bE83E10 | Miguel Perez (PIGGIS) | 59 / 50 | ||||||
BGISUSV0000211734 | 20037 | 60 | 9823 | GGCTTAATGCGAGATGATACAATATATGA | A/G | GATGACGATGTAAAAGAAGCCATAAGAAGG | 4 | UQCRB|Change amino acid:s | SANGERun|bE362G20 | Miguel Perez (PIGGIS) | 59 / 50 | ||||||
BGISUSV0000211802 | 1651 | 59 | 9823 | TCAGAACGTCGCAGGCCTCATCAGAGCT | A/C | GGTCTCCAAAAACTTGTTTGAAAAATGCAA | 6 | C18orf8|Change amino acid:a | SANGERun|bE224H7 | Miguel Perez (PIGGIS) | 58 / 50 | ||||||
BGISUSV0000211789 | 70283 | 57 | 9823 | ATGTGGACGTTCGTCACCCAGCTCCT | C/G | GTCACCCTGGTGCTGCTGGGCTTCTTCCTG | 17 | ANK1|Change amino acid:s | SANGERun|bE309J7 | Miguel Perez (PIGGIS) | 56 / 50 | ||||||
BGISUSV0000211790 | 70283 | 57 | 9823 | ATGTGGACGTTCGTCACCCAGCTCCT | C/G | GTCACCCTGGTGCTGCTGGGCTTCTTCCTG | 17 | ANK1|Change amino acid:s | SANGERun|bE309J7 | Miguel Perez (PIGGIS) | 56 / 50 | ||||||
BGISUSV0000211791 | 70283 | 57 | 9823 | ATGTGGACGTTCGTCACCCAGCTCCT | C/G | GTCACCCTGGTGCTGCTGGGCTTCTTCCTG | 17 | ANK1|Change amino acid:s | SANGERun|bE309J7 | Miguel Perez (PIGGIS) | 56 / 50 | ||||||
BGISUSV0000211653 | 96860 | 56 | 9823 | GTATGAAGGTCATTGAAAACCGAGC | T/C | TTAAAAGATGAGGAAAAAATGGAACTCCAG | 4 | TPM3|Change amino acid:s | SANGERun|bE83E10 | Miguel Perez (PIGGIS) | 55 / 50 | ||||||
BGISUSV0000211678 | 107342 | 54 | 9823 | CTCATAGACGACGTCCTGGACTT | T/C | ACCTCGTGTTCTGACCAGATGGGCAAACCG | 10 | PDSS1|Change amino acid:s | SANGERun|bE337N1 | Miguel Perez (PIGGIS) | 53 / 50 | ||||||
BGISUSV0000211701 | 162041 | 54 | 9823 | GCCATGGTCGCTTGTTATCCAGG | T/C | AACGGAACAGGTTACGTACGTCACGTTGAT | 14 | EGLN1|Change amino acid:s | SANGERun|bE225K19 | Miguel Perez (PIGGIS) | 53 / 50 | ||||||
BGISUSV0000211720 | 34436 | 54 | 9823 | AGGTATTTATTACAGTATCAGGA | T/G | CCAATTCCTTGTGAGCAGTTGGTCACAGCA | 7 | PSMA4|Change amino acid:a | SANGERun|bE238I15 | Miguel Perez (PIGGIS) | 53 / 50 | ||||||
BGISUSV0000211782 | 41142 | 54 | 9823 | ACATGGGTCGGCTACCAGTACCC | T/C | GGCTACCGCGGGCTGCAGTACCTGCTGGAG | 14 | CRYBB2|Change amino acid:s | SANGERun|bE7N20 | Miguel Perez (PIGGIS) | 53 / 50 | ||||||
BGISUSV0000211815 | 91004 | 54 | 9823 | GAAGAGGACTCCTATGACAGTTT | T/G | GGGGAGCCTTCGTACCCTGAAGTCTTTGAA | 10 | PSEN2|Change amino acid:a | SANGERun|bE295A1 | Miguel Perez (PIGGIS) | 53 / 50 | ||||||
BGISUSV0000211793 | 106608 | 53 | 9823 | AAGGTTGACCAGGACAGCGCTT | T/G | GCACAATGATCTCCAGATCCTCAAAGAGAA | 4 | UBE2Q1|Change amino acid:a | SANGERun|bE42I4 | Miguel Perez (PIGGIS) | 52 / 50 | ||||||
BGISUSV0000211758 | 93510 | 52 | 9823 | TTGTCATCGAAATCTCATTGAAATTGGCTA | T/C | GTCTGTTCTGTGTGCTTGTCA | 14 | GTF2H3|Change amino acid:s | SANGERun|bE245F7 | Miguel Perez (PIGGIS) | 51 / 50 | ||||||
BGISUSV0000211770 | 89015 | 52 | 9823 | TTACAATGGCAACGACGAGAGGAGCCGGGC | T/C | GTGGATCATGTGCAGCGCAGC | X | TSPAN7|Change amino acid:s | SANGERun|bE49J12 | Miguel Perez (PIGGIS) | 51 / 50 | ||||||
BGISUSV0000211803 | 86075 | 52 | 9823 | ATGGCGCAGGCAGATGGGGCC | C/G | CCTGCCCCGGCACCGCCCCGAGCCAGCCCT | 15 | RAB17|Change amino acid:a | SANGERun|bE393D3 | Miguel Perez (PIGGIS) | 51 / 50 | ||||||
BGISUSV0000211645 | 144217 | 51 | 9823 | AATGATGGAAAGGATTCTTGGACCTTTACC | A/C | AAACATATGGTACAGAAAAC | 15 | CLK1|Change amino acid:s | SANGERun|bE98M12 | Miguel Perez (PIGGIS) | 50 / 50 | ||||||
BGISUSV0000211766 | 80933 | 51 | 9823 | ATCACTGGCGTGATCCTGCT | T/G | GCCGTCGGAGTCTGGGGCAAGCTCACTCTG | X | TSPAN7|Change amino acid:s | SANGERun|bE49J12 | Miguel Perez (PIGGIS) | 50 / 50 | ||||||
BGISUSV0000211786 | 16660 | 51 | 9823 | CTTCAGGAAGTGTCCCACAT | T/C | GTAAGCAGCTCTGGCCTCAACATCTACAAC | 17 | CTSA|Change amino acid:s | SANGERun|bE441N18 | Miguel Perez (PIGGIS) | 50 / 50 | ||||||
BGISUSV0000211658 | 102011 | 49 | 9823 | TTGTGCTTATGAAGTTTCTCAGGCACATAA | A/G | TCCTGTGAAGTTATTATT | 4 | STXBP3|Change amino acid:s | SANGERun|bE5D18 | Miguel Perez (PIGGIS) | 48 / 50 | ||||||
BGISUSV0000211697 | 41998 | 46 | 9823 | CACCAACGATGGACATACCATTCAGGTTAT | T/C | CTGAAGTCAAAATCA | 4 | CA8|Change amino acid:s | SANGERun|bE133O7 | Miguel Perez (PIGGIS) | 45 / 50 | ||||||
BGISUSV0000211754 | 144788 | 46 | 9823 | CTTCAAAGACCAGCTGGTGTATCCTCTTCT | A/G | GCCTTTACCCGACAA | 5 | FBXO7|Change amino acid:s | SANGERun|bE210C11 | Miguel Perez (PIGGIS) | 45 / 50 | ||||||
BGISUSV0000211721 | 33896 | 45 | 9823 | GGAAAACGTCCTTT | T/G | GGTGTTTCGTTGCTTTACATTGGCTGGGAT | 7 | PSMA4|Change amino acid:a | SANGERun|bE238I15 | Miguel Perez (PIGGIS) | 44 / 50 | ||||||
BGISUSV0000211647 | 54801 | 43 | 9823 | GCTGAGGCTGAG | T/G | TGGCCTCCTTGAACCGTAGGATCCAGCTGG | 18 | TPM3|Change amino acid:a | SANGERun|bE172B15 | Miguel Perez (PIGGIS) | 42 / 50 | ||||||
BGISUSV0000211652 | 54801 | 43 | 9823 | GCTGAGGCTGAG | T/G | TGGCCTCCTTGAACCGTAGGATCCAGCTGG | 18 | TPM3|Change amino acid:a | SANGERun|bE172B15 | Miguel Perez (PIGGIS) | 42 / 50 | ||||||
BGISUSV0000211816 | 93517 | 43 | 9823 | GGGACTGGAACACCACGCTGGCCTGCTTCG | T/G | GGCCATCCTCAT | 10 | PSEN2|Change amino acid:a | SANGERun|bE295A1 | Miguel Perez (PIGGIS) | 42 / 50 | ||||||
BGISUSV0000211818 | 87358 | 43 | 9823 | GGCCATCTGCCA | A/C/G | GTGTGACCAGGCTGATGCAGCCAGTGAGGA | 1 | C9orf119|Change amino acid:a | SANGERun|bE282L14 | Miguel Perez (PIGGIS) | 42 / 50 | ||||||
BGISUSV0000211696 | 127331 | 42 | 9823 | ATCTTGGATTT | T/G | GGGCTGGCTCGGCCTGCAGATGCAGAGATG | 7 | MAPK13|Change amino acid:a | SANGERun|bE7K1 | Miguel Perez (PIGGIS) | 41 / 50 | ||||||
BGISUSV0000211747 | 87240 | 42 | 9823 | CTGCTCTGCTCGCAGTATGAGACGCTCTCT | T/G | ACAGCGAGTGA | 14 | NCOR2|Change amino acid:a | SANGERun|bE39H19 | Miguel Perez (PIGGIS) | 41 / 50 | ||||||
BGISUSV0000211788 | 17106 | 42 | 9823 | GCCCTCCACATCCCCGAGCAGCTGCCCCAA | T/G | GGGACATGTGC | 17 | CTSA|Change amino acid:a | SANGERun|bE441N18 | Miguel Perez (PIGGIS) | 41 / 50 | ||||||
BGISUSV0000211735 | 48295 | 40 | 9823 | CCGGGAAAGAAAAGAAAGAGAAGAATGGGC | A/C | AAGAAATAA | 4 | UQCRB|Change amino acid:s | SANGERun|bE381B20 | Miguel Perez (PIGGIS) | 39 / 50 | ||||||
BGISUSV0000211659 | 101166 | 39 | 9823 | GGTTCCAC | A/G | CATATTTTAACACCCAAAAAGCTGTTGGAT | 4 | STXBP3|Change amino acid:s | SANGERun|bE5D18 | Miguel Perez (PIGGIS) | 38 / 50 | ||||||
BGISUSV0000211705 | 113567 | 39 | 9823 | TCCAAGTT | T/G | GGTGCCAACGCCATCCTGGGCGTGTCCCTG | 6 | ENO1|Change amino acid:a | SANGERun|bE47O11 | Miguel Perez (PIGGIS) | 38 / 50 | ||||||
BGISUSV0000211699 | 134108 | 37 | 9823 | CATCGAGTACGCCCGGCAGCTGGAGATGAT | T/G | GTCTGA | 1 | PSMD8|Change amino acid:a | SANGERun|bE504A9 | Miguel Perez (PIGGIS) | 36 / 50 |
100 Rows queried.