regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CROCC_chr1_16916931_16977964 | 16970637 | T | C | missense_variant others(1): Show |
MODERATE | HG01175.hp2 HG02559.hp1 |
a0012 | a0012c0017 | a0012c0017t0001 | a0012c0017t0001g0011 | 2 | 232 | 0.0086 | 0 | c.565 others(4): Show |
p.Val others(7): Show |
CROCC | ENSG00000058453.17 | transcript | ENST00000375541.10 | protein_coding | 35/37 | 5742/6660 | 5654/6054 | 1885/2017 | chr1 | TogoVar | ||
CROT_chr7_87340664_87404794 | 87392948 | C | A | missense_variant others(1): Show |
MODERATE | HG00544.hp2 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0002 | 1 | 282 | 0.0036 | 0 | c.159 others(4): Show |
p.Ser others(6): Show |
CROT | ENSG00000005469.12 | transcript | ENST00000331536.8 | protein_coding | 17/18 | 1815/3205 | 1599/1839 | 533/612 | chr7 | TogoVar | ||
CROT_chr7_87340664_87404794 | 87398520 | A | G | splice_region_variant others(1): Show |
LOW | HG03516.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0057 | 1 | 282 | 0.0036 | 0 | c.171 others(6): Show |
CROT | ENSG00000005469.12 | transcript | ENST00000331536.8 | protein_coding | 17/17 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16406061 | C | T | splice_region_variant others(1): Show |
LOW | NA18992.hp1 | a0002 | a0002c0009 | a0002c0009t0006 | a0002c0009t0006g0212 | 1 | 290 | 0.0035 | 0 | c.534 others(3): Show |
p.Gly others(6): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/10 | 750/5742 | 534/1356 | 178/451 | chr7 | TogoVar | ||
CRTAM_chr11_122833500_122877643 | 122850068 | A | C | missense_variant others(1): Show |
MODERATE | HG02451.hp1 HG02809.hp2 HG02976.hp1 others(1): Show |
a0008a0010 | a0008c0013a0010c0020 | a0008c0013t0011a0010c0020t0005 | a0008c0013t0011g0232a0008c0013t0011g0234a0008c0013t0011g0235others(1): Show | 4 | 428 | 0.0094 | 0 | c.47A others(2): Show |
p.Glu others(5): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 2/10 | 94/2473 | 47/1182 | 16/393 | chr11 | TogoVar | ||
CRTAM_chr11_122833500_122877643 | 122855691 | A | G | splice_region_variant others(1): Show |
LOW | HG02647.hp1 HG02970.hp1 |
a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0331a0002c0002t0007g0332 | 2 | 428 | 0.0047 | 0 | c.491 others(5): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 4/9 | chr11 | TogoVar | ||||||
CRTAM_chr11_122833500_122877643 | 122867553 | A | G | missense_variant others(1): Show |
MODERATE | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(213): Show |
a0001a0006a0007others(2): Show | a0001c0001a0001c0005a0001c0018others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(183): Show | 216 | 428 | 0.5047 | 0 | c.962 others(3): Show |
p.Lys others(6): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 8/10 | 1009/2473 | 962/1182 | 321/393 | chr11 | TogoVar | ||
CRTAM_chr11_122833500_122877643 | 122868010 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(57): Show |
a0002a0004a0005 | a0002c0004a0002c0017a0004c0006others(1): Show | a0002c0004t0003a0002c0004t0004a0002c0017t0004others(2): Show | a0002c0004t0003g0034a0002c0004t0003g0284a0002c0004t0004g0003others(46): Show | 60 | 428 | 0.1402 | 0 | c.965 others(5): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 8/9 | chr11 | TogoVar | ||||||
CRTAP_chr3_33109014_33152773 | 33129936 | C | T | splice_region_variant others(1): Show |
LOW | NA18522.hp1 | a0001 | a0001c0004 | a0001c0004t0019 | a0001c0004t0019g0070 | 1 | 408 | 0.0025 | 0 | c.794 others(5): Show |
CRTAP | ENSG00000170275.15 | transcript | ENST00000320954.11 | protein_coding | 3/6 | chr3 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18742903 | C | T | splice_region_variant others(1): Show |
LOW | NA20905.hp2 | a0003 | a0003c0004 | a0003c0004t0023 | a0003c0004t0023g0118 | 1 | 274 | 0.0037 | 0 | c.127 others(5): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | chr19 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18753584 | A | G | missense_variant others(1): Show |
MODERATE | HG02647.hp2 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0141 | 1 | 274 | 0.0037 | 0 | c.623 others(3): Show |
p.Lys others(6): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 6/14 | 646/6879 | 623/1905 | 208/634 | chr19 | TogoVar | ||
CRTC1_chr19_18678680_18787333 | 18765398 | C | G | splice_region_variant others(1): Show |
LOW | HG00733.hp1 HG01175.hp1 HG01258.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182a0001c0001t0001g0195a0001c0001t0001g0196others(2): Show | 5 | 274 | 0.0183 | 0 | c.887 others(5): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 8/13 | chr19 | TogoVar | ||||||
CRTC2_chr1_153942675_153963612 | 153948332 | G | T | splice_region_variant others(1): Show |
LOW | NA18992.hp2 | a0011 | a0011c0011 | a0011c0011t0002 | a0011c0011t0002g0060 | 1 | 370 | 0.0027 | 0 | c.186 others(6): Show |
CRTC2 | ENSG00000160741.17 | transcript | ENST00000368633.2 | protein_coding | 13/13 | chr1 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90638446 | A | G | missense_variant others(1): Show |
MODERATE | HG02074.hp1 | a0006 | a0006c0011 | a0006c0011t0043 | a0006c0011t0043g0083 | 1 | 276 | 0.0036 | 0 | c.126 others(4): Show |
p.Met others(6): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 12/15 | 1416/5214 | 1267/1860 | 423/619 | chr15 | TogoVar | ||
CRY1_chr12_106986364_107098549 | 106992962 | T | G | splice_region_variant others(1): Show |
LOW | HG01167.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059a0001c0001t0001g0060 | 2 | 320 | 0.0063 | 0 | c.165 others(6): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 11/12 | chr12 | TogoVar | ||||||
CRY2_chr11_45842475_45888244 | 45855978 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(276): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0001a0001c0001t0001g0022a0001c0001t0001g0023others(167): Show | 279 | 368 | 0.7582 | 0 | c.216 others(5): Show |
CRY2 | ENSG00000121671.12 | transcript | ENST00000616080.2 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
CRYAB_chr11_111903564_111916770 | 111910323 | A | C | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00558.hp1 HG00597.hp2 others(92): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0009others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0009t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0011others(3): Show | 95 | 398 | 0.2387 | 0 | c.324 others(5): Show |
CRYAB | ENSG00000109846.9 | transcript | ENST00000650687.2 | protein_coding | 2/2 | chr11 | TogoVar | ||||||
CRYBA1_chr17_29241859_29259494 | 29253641 | A | T | missense_variant others(1): Show |
MODERATE | HG02647.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0003 | 1 | 394 | 0.0025 | 0 | c.359 others(3): Show |
p.Asn others(6): Show |
CRYBA1 | ENSG00000108255.8 | transcript | ENST00000225387.8 | protein_coding | 5/6 | 364/798 | 359/648 | 120/215 | chr17 | TogoVar | ||
CRYBA2_chr2_218985190_218998422 | 218993018 | G | A | splice_region_variant others(1): Show |
LOW | NA19058.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0015 | 1 | 390 | 0.0026 | 0 | c.159 others(3): Show |
p.Gly others(5): Show |
CRYBA2 | ENSG00000163499.12 | transcript | ENST00000295728.7 | protein_coding | 1/4 | 405/902 | 159/594 | 53/197 | chr2 | TogoVar | ||
CRYBA4_chr22_26616963_26635669 | 26625625 | A | G | splice_region_variant others(1): Show |
LOW | HG00408.hp1 HG00597.hp2 HG01069.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049a0001c0001t0001g0050a0001c0001t0001g0051others(21): Show | 27 | 402 | 0.0672 | 0 | c.300 others(5): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 4/5 | chr22 | TogoVar | ||||||
CRYBB1_chr22_26594278_26623027 | 26599676 | G | T | splice_region_variant others(1): Show |
LOW | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 426 | 0.0024 | 0 | c.576 others(5): Show |
CRYBB1 | ENSG00000100122.7 | transcript | ENST00000647684.1 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CRYBB1_chr22_26594278_26623027 | 26616336 | A | G | splice_region_variant | LOW | NA19076.hp1 | a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0171 | 1 | 426 | 0.0024 | 0 | c.-17 others(3): Show |
CRYBB1 | ENSG00000100122.7 | transcript | ENST00000647684.1 | protein_coding | 2/6 | chr22 | TogoVar | ||||||
CRYBB1_chr22_26594278_26623027 | 26616337 | G | A | splice_region_variant | LOW | NA19076.hp1 | a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0171 | 1 | 426 | 0.0024 | 0 | c.-18 others(3): Show |
CRYBB1 | ENSG00000100122.7 | transcript | ENST00000647684.1 | protein_coding | 2/6 | chr22 | TogoVar | ||||||
CRYBB1_chr22_26594278_26623027 | 26616338 | T | G | splice_region_variant | LOW | NA19076.hp1 | a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0171 | 1 | 426 | 0.0024 | 0 | c.-19 others(3): Show |
CRYBB1 | ENSG00000100122.7 | transcript | ENST00000647684.1 | protein_coding | 2/6 | chr22 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25221396 | T | A | splice_region_variant others(1): Show |
LOW | HG02970.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0137 | 1 | 464 | 0.0022 | 0 | c.-26 others(5): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 1/5 | chr22 | TogoVar | ||||||
CRYBB3_chr22_25194858_25212359 | 25207041 | C | T | splice_region_variant others(1): Show |
LOW | HG01106.hp2 HG01167.hp2 HG01192.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0034a0001c0001t0001g0059others(2): Show | 15 | 454 | 0.0330 | 0 | c.471 others(5): Show |
CRYBB3 | ENSG00000100053.10 | transcript | ENST00000215855.7 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106530318 | A | G | splice_region_variant others(1): Show |
LOW | HG00733.hp2 HG01243.hp1 HG01952.hp1 others(1): Show |
a0010 | a0010c0013 | a0010c0013t0009 | a0010c0013t0009g0049a0010c0013t0009g0063a0010c0013t0009g0066others(1): Show | 4 | 272 | 0.0147 | 0 | c.471 others(6): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 8/21 | chr6 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106544567 | G | A | splice_region_variant others(1): Show |
LOW | HG02717.hp1 | a0007 | a0007c0007 | a0007c0007t0003 | a0007c0007t0003g0210 | 1 | 272 | 0.0037 | 0 | c.504 others(6): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 11/21 | chr6 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106568468 | T | G | splice_region_variant others(1): Show |
LOW | HG00280.hp1 HG01106.hp2 HG01255.hp1 others(7): Show |
a0005 | a0005c0006a0005c0008 | a0005c0006t0003a0005c0008t0003 | a0005c0006t0003g0004a0005c0006t0003g0038a0005c0006t0003g0079others(7): Show | 10 | 272 | 0.0368 | 0 | c.630 others(6): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 21/21 | chr6 | TogoVar | ||||||
CRYBG2_chr1_26316865_26359130 | 26322060 | G | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(212): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0049a0002c0002others(28): Show | a0001c0001t0001a0001c0049t0001a0002c0002t0001others(29): Show | a0001c0001t0001g0065a0001c0001t0001g0104a0001c0049t0001g0081others(184): Show | 215 | 376 | 0.5718 | 0 | c.489 others(6): Show |
CRYBG2 | ENSG00000176092.17 | transcript | ENST00000308182.10 | protein_coding | 19/19 | chr1 | TogoVar | ||||||
CRYBG2_chr1_26316865_26359130 | 26338477 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(71): Show |
a0003a0007a0013others(7): Show | a0003c0003a0003c0034a0003c0039others(9): Show | a0003c0003t0001a0003c0003t0002a0003c0034t0001others(10): Show | a0003c0003t0001g0024a0003c0003t0001g0035a0003c0003t0001g0036others(64): Show | 74 | 376 | 0.1968 | 0 | c.334 others(4): Show |
p.Leu others(7): Show |
CRYBG2 | ENSG00000176092.17 | transcript | ENST00000308182.10 | protein_coding | 7/20 | 3495/5239 | 3345/4986 | 1115/1661 | chr1 | TogoVar | ||
CRYBG2_chr1_26316865_26359130 | 26343300 | C | T | splice_region_variant others(1): Show |
LOW | HG02615.hp2 HG02630.hp1 HG02647.hp2 others(2): Show |
a0006a0034 | a0006c0008a0034c0040 | a0006c0008t0001a0034c0040t0002 | a0006c0008t0001g0008a0006c0008t0001g0043a0006c0008t0001g0044others(1): Show | 5 | 376 | 0.0133 | 0 | c.291 others(6): Show |
CRYBG2 | ENSG00000176092.17 | transcript | ENST00000308182.10 | protein_coding | 2/19 | chr1 | TogoVar | ||||||
CRYBG2_chr1_26316865_26359130 | 26354032 | C | T | splice_region_variant others(1): Show |
LOW | NA18960.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0030 | 1 | 376 | 0.0027 | 0 | c.-56 others(5): Show |
CRYBG2 | ENSG00000176092.17 | transcript | ENST00000308182.10 | protein_coding | 1/19 | chr1 | TogoVar | ||||||
CRYBG3_chr3_97817011_97949984 | 97878035 | G | A | missense_variant others(1): Show |
MODERATE | HG01074.hp1 | a0026 | a0026c0033 | a0026c0033t0002 | a0026c0033t0002g0170 | 1 | 316 | 0.0032 | 0 | c.684 others(4): Show |
p.Glu others(7): Show |
CRYBG3 | ENSG00000080200.10 | transcript | ENST00000389622.7 | protein_coding | 4/22 | 7037/10779 | 6841/8913 | 2281/2970 | chr3 | TogoVar | ||
CRYBG3_chr3_97817011_97949984 | 97942280 | T | G | splice_region_variant others(1): Show |
LOW | HG00323.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0085 | 1 | 316 | 0.0032 | 0 | c.866 others(6): Show |
CRYBG3 | ENSG00000080200.10 | transcript | ENST00000389622.7 | protein_coding | 20/21 | chr3 | TogoVar | ||||||
CRYBG3_chr3_97817011_97949984 | 97943228 | G | C | missense_variant others(1): Show |
MODERATE | HG04115.hp1 | a0024 | a0024c0034 | a0024c0034t0002 | a0024c0034t0002g0223 | 1 | 316 | 0.0032 | 0 | c.882 others(4): Show |
p.Gly others(7): Show |
CRYBG3 | ENSG00000080200.10 | transcript | ENST00000389622.7 | protein_coding | 22/22 | 9023/10779 | 8827/8913 | 2943/2970 | chr3 | TogoVar | ||
CRYGC_chr2_208123137_208134828 | 208128137 | T | C | splice_region_variant | LOW | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 444 | 0.0023 | 0 | c.*66 others(3): Show |
CRYGC | ENSG00000163254.5 | transcript | ENST00000282141.4 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
CRYGD_chr2_208116607_208129524 | 208124361 | G | C | splice_region_variant others(1): Show |
LOW | HG00597.hp2 NA18612.hp2 NA18943.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016 | 4 | 454 | 0.0088 | 0 | c.10- others(4): Show |
CRYGD | ENSG00000118231.5 | transcript | ENST00000264376.5 | protein_coding | 1/2 | chr2 | TogoVar | ||||||
CRYGN_chr7_151423832_151445141 | 151428833 | A | C | splice_region_variant | LOW | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0066 | 1 | 452 | 0.0022 | 0 | c.*12 others(5): Show |
CRYGN | ENSG00000127377.10 | transcript | ENST00000337323.3 | protein_coding | 4/4 | chr7 | TogoVar | ||||||
CRYGN_chr7_151423832_151445141 | 151428834 | C | A | splice_region_variant | LOW | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0066 | 1 | 452 | 0.0022 | 0 | c.*12 others(5): Show |
CRYGN | ENSG00000127377.10 | transcript | ENST00000337323.3 | protein_coding | 4/4 | chr7 | TogoVar | ||||||
CRYGN_chr7_151423832_151445141 | 151436172 | G | A | splice_region_variant others(1): Show |
LOW | HG01243.hp2 HG02886.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020 | a0001c0001t0001g0034a0001c0001t0020g0054 | 3 | 452 | 0.0066 | 0 | c.416 others(5): Show |
CRYGN | ENSG00000127377.10 | transcript | ENST00000337323.3 | protein_coding | 3/3 | chr7 | TogoVar | ||||||
CRYGN_chr7_151423832_151445141 | 151436177 | C | A | splice_region_variant others(1): Show |
LOW | HG02280.hp2 HG03471.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0036a0001c0001t0014g0118 | 3 | 452 | 0.0066 | 0 | c.416 others(5): Show |
CRYGN | ENSG00000127377.10 | transcript | ENST00000337323.3 | protein_coding | 3/3 | chr7 | TogoVar | ||||||
CRYGS_chr3_186533443_186549380 | 186538968 | G | T | missense_variant others(1): Show |
MODERATE | NA19088.hp2 | a0006 | a0006c0004 | a0006c0004t0001 | a0006c0004t0001g0029 | 1 | 396 | 0.0025 | 0 | c.265 others(3): Show |
p.Pro others(5): Show |
CRYGS | ENSG00000213139.8 | transcript | ENST00000307944.6 | protein_coding | 3/3 | 319/844 | 265/537 | 89/178 | chr3 | TogoVar | ||
CRYGS_chr3_186533443_186549380 | 186539595 | A | T | splice_region_variant others(1): Show |
LOW | HG00639.hp1 HG03098.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0018 | 2 | 396 | 0.0051 | 0 | c.24T others(2): Show |
p.Ile others(4): Show |
CRYGS | ENSG00000213139.8 | transcript | ENST00000307944.6 | protein_coding | 2/3 | 78/844 | 24/537 | 8/178 | chr3 | TogoVar | ||
CRYL1_chr13_20398669_20530857 | 20439762 | G | A | splice_region_variant others(1): Show |
LOW | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0132 | 1 | 250 | 0.0040 | 0 | c.277 others(5): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 3/7 | chr13 | TogoVar | ||||||
CRYZL1_chr21_33584341_33646741 | 33603544 | T | C | splice_region_variant others(1): Show |
LOW | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 360 | 0.0028 | 0 | c.332 others(5): Show |
CRYZL1 | ENSG00000205758.12 | transcript | ENST00000381554.8 | protein_coding | 6/12 | chr21 | TogoVar | ||||||
CRYZ_chr1_74700486_74738050 | 74707212 | A | G | splice_region_variant others(1): Show |
LOW | NA18906.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0227 | 1 | 372 | 0.0027 | 0 | c.631 others(5): Show |
CRYZ | ENSG00000116791.14 | transcript | ENST00000340866.10 | protein_coding | 6/8 | chr1 | TogoVar | ||||||
CSAD_chr12_53152663_53185925 | 53158691 | A | G | splice_region_variant others(1): Show |
LOW | HG00323.hp2 HG00423.hp2 HG00438.hp2 others(55): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0010 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0002g0049a0001c0001t0003g0005a0001c0001t0003g0024others(21): Show | 58 | 334 | 0.1737 | 0 | c.130 others(6): Show |
CSAD | ENSG00000139631.20 | transcript | ENST00000444623.6 | protein_coding | 16/16 | chr12 | TogoVar | ||||||
CSAD_chr12_53152663_53185925 | 53159615 | A | T | splice_region_variant others(1): Show |
LOW | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0071 | 1 | 334 | 0.0030 | 0 | c.130 others(6): Show |
CSAD | ENSG00000139631.20 | transcript | ENST00000444623.6 | protein_coding | 16/16 | chr12 | TogoVar | ||||||
CSAD_chr12_53152663_53185925 | 53171449 | A | G | splice_region_variant others(1): Show |
LOW | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 334 | 0.0030 | 0 | c.452 others(5): Show |
CSAD | ENSG00000139631.20 | transcript | ENST00000444623.6 | protein_coding | 7/16 | chr12 | TogoVar |