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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CALCB_chr11_15068593_15083637 | 15075061 | G | A | splice_region_variant others(1): Show |
LOW | HG02622.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0001 | 1 | 416 | 0.0024 | 0 | c.87G others(2): Show |
p.Arg others(5): Show |
CALCB | ENSG00000175868.14 | transcript | ENST00000324229.11 | protein_coding | 3/5 | 167/1044 | 87/384 | 29/127 | chr11 | TogoVar | ||
CALCOCO1_chr12_53703517_53732452 | 53714699 | G | A | splice_region_variant others(1): Show |
LOW | HG01891.hp2 | a0001 | a0001c0004 | a0001c0004t0046 | a0001c0004t0046g0061 | 1 | 428 | 0.0023 | 0 | c.138 others(6): Show |
CALCOCO1 | ENSG00000012822.16 | transcript | ENST00000550804.6 | protein_coding | 10/14 | chr12 | TogoVar | ||||||
CALCOCO1_chr12_53703517_53732452 | 53716413 | A | G | splice_region_variant others(1): Show |
LOW | HG00544.hp2 HG00597.hp1 HG00621.hp1 others(84): Show |
a0001a0005a0006 | a0001c0003a0005c0009a0006c0010 | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(17): Show | a0001c0003t0001g0001a0001c0003t0001g0019a0001c0003t0001g0036others(37): Show | 87 | 428 | 0.2033 | 0 | c.852 others(3): Show |
p.Ala others(6): Show |
CALCOCO1 | ENSG00000012822.16 | transcript | ENST00000550804.6 | protein_coding | 8/15 | 925/5576 | 852/2076 | 284/691 | chr12 | TogoVar | ||
CALCOCO1_chr12_53703517_53732452 | 53723787 | T | C | splice_region_variant others(1): Show |
LOW | HG01891.hp2 | a0001 | a0001c0004 | a0001c0004t0046 | a0001c0004t0046g0061 | 1 | 428 | 0.0023 | 0 | c.260 others(5): Show |
CALCOCO1 | ENSG00000012822.16 | transcript | ENST00000550804.6 | protein_coding | 3/14 | chr12 | TogoVar | ||||||
CALCOCO2_chr17_48826035_48870245 | 48849253 | G | A | missense_variant others(1): Show |
MODERATE | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(84): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004a0002c0002t0007others(6): Show | a0002c0002t0001g0066a0002c0002t0001g0067a0002c0002t0001g0068others(84): Show | 87 | 328 | 0.2652 | 0 | c.419 others(3): Show |
p.Gly others(6): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 5/13 | 473/3635 | 419/1341 | 140/446 | chr17 | TogoVar | ||
CALCOCO2_chr17_48826035_48870245 | 48852501 | T | C | splice_region_variant others(1): Show |
LOW | HG01261.hp2 HG01433.hp1 NA18971.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0007a0001c0001t0002g0009a0001c0001t0002g0294others(1): Show | 4 | 328 | 0.0122 | 0 | c.703 others(5): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 7/12 | chr17 | TogoVar | ||||||
CALCOCO2_chr17_48826035_48870245 | 48860311 | T | C | splice_region_variant others(1): Show |
LOW | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0296 | 1 | 328 | 0.0031 | 0 | c.100 others(6): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 10/12 | chr17 | TogoVar | ||||||
CALCR_chr7_93419486_93579724 | 93460821 | C | T | splice_region_variant others(1): Show |
LOW | HG01243.hp2 HG02145.hp1 HG02257.hp1 others(8): Show |
a0001a0002 | a0001c0003a0002c0007a0002c0010 | a0001c0003t0002a0001c0003t0029a0002c0007t0002others(1): Show | a0001c0003t0002g0217a0001c0003t0002g0221a0001c0003t0002g0222others(8): Show | 11 | 292 | 0.0377 | 0 | c.648 others(3): Show |
p.Pro others(6): Show |
CALCR | ENSG00000004948.16 | transcript | ENST00000426151.7 | protein_coding | 8/14 | 925/3572 | 648/1425 | 216/474 | chr7 | TogoVar | ||
CALCR_chr7_93419486_93579724 | 93460822 | G | A | missense_variant others(1): Show |
MODERATE | HG03491.hp1 HG03492.hp1 |
a0003 | a0003c0009 | a0003c0009t0002 | a0003c0009t0002g0244a0003c0009t0002g0245 | 2 | 292 | 0.0069 | 0 | c.647 others(3): Show |
p.Pro others(6): Show |
CALCR | ENSG00000004948.16 | transcript | ENST00000426151.7 | protein_coding | 8/14 | 924/3572 | 647/1425 | 216/474 | chr7 | TogoVar | ||
CALCR_chr7_93419486_93579724 | 93477671 | G | A | splice_region_variant others(1): Show |
LOW | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0075 | 1 | 292 | 0.0034 | 0 | c.206 others(5): Show |
CALCR | ENSG00000004948.16 | transcript | ENST00000426151.7 | protein_coding | 4/13 | chr7 | TogoVar | ||||||
CALCR_chr7_93419486_93579724 | 93486933 | T | G | missense_variant others(1): Show |
MODERATE | HG02922.hp2 | a0004 | a0004c0012 | a0004c0012t0002 | a0004c0012t0002g0146 | 1 | 292 | 0.0034 | 0 | c.49A others(2): Show |
p.Asn others(5): Show |
CALCR | ENSG00000004948.16 | transcript | ENST00000426151.7 | protein_coding | 3/14 | 326/3572 | 49/1425 | 17/474 | chr7 | TogoVar | ||
CALM1_chr14_90392029_90413268 | 90404357 | AACAATTG others(17): Show |
A | splice_acceptor_variant others(3): Show |
HIGH | NA19001.hp1 | a0002 | a0002c0003 | a0002c0003t0046 | a0002c0003t0046g0090 | 1 | 408 | 0.0025 | -24 | c.286 others(34): Show |
p.Asp others(11): Show |
CALM1 | ENSG00000198668.14 | transcript | ENST00000356978.9 | protein_coding | 5/6 | 286/450 | 96/149 | chr14 | TogoVar | |||
CALML6_chr1_1910260_1922296 | 1915742 | C | T | splice_region_variant others(1): Show |
LOW | HG02559.hp1 HG06807.hp1 |
a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0012 | 2 | 394 | 0.0051 | 0 | c.78+ others(4): Show |
CALML6 | ENSG00000169885.10 | transcript | ENST00000307786.8 | protein_coding | 2/5 | chr1 | TogoVar | ||||||
CALML6_chr1_1910260_1922296 | 1916970 | G | A | splice_region_variant others(1): Show |
LOW | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0015 | 1 | 394 | 0.0025 | 0 | c.399 others(5): Show |
CALML6 | ENSG00000169885.10 | transcript | ENST00000307786.8 | protein_coding | 4/5 | chr1 | TogoVar | ||||||
CALML6_chr1_1910260_1922296 | 1917295 | A | G | splice_region_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(389): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0002c0003others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(27): Show | 392 | 394 | 0.9949 | 0 | c.*10 others(4): Show |
CALML6 | ENSG00000169885.10 | transcript | ENST00000307786.8 | protein_coding | 6/6 | chr1 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 71810328 | G | T | splice_region_variant others(1): Show |
LOW | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0030 | 1 | 142 | 0.0070 | 0 | c.658 others(5): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 6/6 | chr7 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 72403243 | A | C | splice_region_variant others(1): Show |
LOW | HG00323.hp2 HG00438.hp2 HG00642.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0034a0001c0001t0001g0053a0001c0001t0001g0075others(12): Show | 15 | 142 | 0.1056 | 0 | c.119 others(5): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 2/6 | chr7 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 72403245 | A | T | splice_region_variant others(1): Show |
LOW | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0122 | 1 | 142 | 0.0070 | 0 | c.119 others(5): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 2/6 | chr7 | TogoVar | ||||||
CALR3_chr19_16474061_16501167 | 16484113 | A | G | splice_region_variant others(1): Show |
LOW | NA18940.hp1 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0043 | 1 | 370 | 0.0027 | 0 | c.495 others(3): Show |
p.Val others(6): Show |
CALR3 | ENSG00000269058.6 | transcript | ENST00000269881.8 | protein_coding | 5/9 | 533/1263 | 495/1155 | 165/384 | chr19 | TogoVar | ||
CALR3_chr19_16474061_16501167 | 16484114 | A | T | missense_variant others(1): Show |
MODERATE | NA18940.hp1 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0043 | 1 | 370 | 0.0027 | 0 | c.494 others(3): Show |
p.Val others(6): Show |
CALR3 | ENSG00000269058.6 | transcript | ENST00000269881.8 | protein_coding | 5/9 | 532/1263 | 494/1155 | 165/384 | chr19 | TogoVar | ||
CALR3_chr19_16474061_16501167 | 16484115 | C | T | missense_variant others(1): Show |
MODERATE | NA18940.hp1 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0043 | 1 | 370 | 0.0027 | 0 | c.493 others(3): Show |
p.Val others(6): Show |
CALR3 | ENSG00000269058.6 | transcript | ENST00000269881.8 | protein_coding | 5/9 | 531/1263 | 493/1155 | 165/384 | chr19 | TogoVar | ||
CAMK1G_chr1_209578714_209618939 | 209609932 | G | A | splice_region_variant others(1): Show |
LOW | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 446 | 0.0022 | 0 | c.827 others(5): Show |
CAMK1G | ENSG00000008118.10 | transcript | ENST00000361322.3 | protein_coding | 9/12 | chr1 | TogoVar | ||||||
CAMK1_chr3_9752347_9774947 | 9757726 | C | T | splice_region_variant others(1): Show |
LOW | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 426 | 0.0024 | 0 | c.103 others(6): Show |
CAMK1 | ENSG00000134072.11 | transcript | ENST00000256460.8 | protein_coding | 11/11 | chr3 | TogoVar | ||||||
CAMK2A_chr5_150214491_150294773 | 150222717 | T | C | splice_region_variant others(1): Show |
LOW | HG00280.hp1 HG00423.hp1 HG00423.hp2 others(94): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(27): Show | a0001c0001t0002g0069a0001c0001t0002g0071a0001c0001t0002g0072others(88): Show | 97 | 338 | 0.2870 | 0 | c.146 others(6): Show |
CAMK2A | ENSG00000070808.17 | transcript | ENST00000671881.1 | protein_coding | 18/18 | chr5 | TogoVar | ||||||
CAMK2A_chr5_150214491_150294773 | 150251850 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(239): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(83): Show | a0001c0001t0001g0011a0001c0001t0001g0048a0001c0001t0001g0049others(228): Show | 242 | 338 | 0.7160 | 0 | c.599 others(5): Show |
CAMK2A | ENSG00000070808.17 | transcript | ENST00000671881.1 | protein_coding | 8/18 | chr5 | TogoVar | ||||||
CAMK2B_chr7_44212154_44330594 | 44217155 | T | C | splice_region_variant | LOW | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0231 | 1 | 242 | 0.0041 | 0 | c.*23 others(5): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 24/24 | chr7 | TogoVar | ||||||
CAMK2B_chr7_44212154_44330594 | 44232814 | G | A | splice_region_variant others(1): Show |
LOW | HG02970.hp2 HG03041.hp2 HG03516.hp2 |
a0001a0002 | a0001c0004a0002c0011 | a0001c0004t0003a0002c0011t0004 | a0001c0004t0003g0028a0001c0004t0003g0075a0002c0011t0004g0027 | 3 | 242 | 0.0124 | 0 | c.117 others(6): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 16/23 | chr7 | TogoVar | ||||||
CAMK2B_chr7_44212154_44330594 | 44242658 | C | T | splice_region_variant others(1): Show |
LOW | HG03491.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0013 | 1 | 242 | 0.0041 | 0 | c.602 others(5): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 8/23 | chr7 | TogoVar | ||||||
CAMK2B_chr7_44212154_44330594 | 44325325 | CCGGCCCA others(71): Show |
C | frameshift_variant others(3): Show |
HIGH | HG01074.hp2 | a0005 | a0005c0016 | a0005c0016t0009 | a0005c0016t0009g0006 | 1 | 242 | 0.0041 | -78 | c.19_ others(86): Show |
p.Cys others(3): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 1/24 | 19/2001 | 7/666 | chr7 | TogoVar | |||
CAMK2D_chr4_113446032_113766738 | 113517662 | A | G | splice_region_variant others(1): Show |
LOW | HG02145.hp2 HG02559.hp2 HG02647.hp1 others(5): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0001t0020a0001c0001t0037others(2): Show | a0001c0001t0004g0035a0001c0001t0004g0160a0001c0001t0004g0161others(5): Show | 8 | 278 | 0.0288 | 0 | c.602 others(5): Show |
CAMK2D | ENSG00000145349.20 | transcript | ENST00000511664.6 | protein_coding | 8/20 | chr4 | TogoVar | ||||||
CAMK2D_chr4_113446032_113766738 | 113531298 | A | T | splice_region_variant others(1): Show |
LOW | HG03831.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0077 | 1 | 278 | 0.0036 | 0 | c.519 others(3): Show |
p.Gly others(6): Show |
CAMK2D | ENSG00000145349.20 | transcript | ENST00000511664.6 | protein_coding | 8/21 | 1189/5785 | 519/1602 | 173/533 | chr4 | TogoVar | ||
CAMK2D_chr4_113446032_113766738 | 113661777 | TA | T | splice_region_variant others(1): Show |
LOW | HG01243.hp1 HG02717.hp1 HG02723.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014a0001c0001t0036others(1): Show | a0001c0001t0004g0031a0001c0001t0004g0032a0001c0001t0004g0034others(7): Show | 10 | 278 | 0.0360 | -1 | c.161 others(6): Show |
CAMK2D | ENSG00000145349.20 | transcript | ENST00000511664.6 | protein_coding | 2/20 | chr4 | TogoVar | ||||||
CAMK2G_chr10_73807501_73879555 | 73848087 | G | A | splice_region_variant others(1): Show |
LOW | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0149 | 1 | 280 | 0.0036 | 0 | c.602 others(5): Show |
CAMK2G | ENSG00000148660.22 | transcript | ENST00000423381.6 | protein_coding | 8/22 | chr10 | TogoVar | ||||||
CAMK4_chr5_111219384_111499886 | 111394789 | A | G | splice_region_variant others(1): Show |
LOW | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0103 | a0001c0001t0103g0162 | 1 | 246 | 0.0041 | 0 | c.459 others(5): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 5/10 | chr5 | TogoVar | ||||||
CAMK4_chr5_111219384_111499886 | 111449124 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00438.hp1 others(136): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(101): Show | a0001c0001t0001g0013a0001c0001t0001g0113a0001c0001t0001g0130others(136): Show | 139 | 246 | 0.5650 | 0 | c.551 others(5): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 6/10 | chr5 | TogoVar | ||||||
CAMKK1_chr17_3855315_3898053 | 3860315 | T | A | splice_region_variant | LOW | HG01361.hp1 HG02145.hp2 HG02257.hp2 others(11): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0005others(1): Show | a0001c0002t0011a0001c0002t0018a0001c0003t0026others(3): Show | a0001c0002t0011g0184a0001c0002t0011g0249a0001c0002t0011g0331others(11): Show | 14 | 446 | 0.0314 | 0 | c.*18 others(5): Show |
CAMKK1 | ENSG00000004660.15 | transcript | ENST00000348335.7 | protein_coding | 16/16 | chr17 | TogoVar | ||||||
CAMKK1_chr17_3855315_3898053 | 3872554 | T | C | missense_variant others(1): Show |
MODERATE | HG00099.hp1 HG00408.hp1 HG00438.hp2 others(179): Show |
a0002a0003a0004 | a0002c0001a0002c0010a0002c0014others(3): Show | a0002c0001t0001a0002c0001t0002a0002c0001t0003others(31): Show | a0002c0001t0001g0015a0002c0001t0001g0180a0002c0001t0001g0209others(172): Show | 182 | 446 | 0.4081 | 0 | c.112 others(4): Show |
p.Glu others(6): Show |
CAMKK1 | ENSG00000004660.15 | transcript | ENST00000348335.7 | protein_coding | 12/16 | 1282/3572 | 1124/1518 | 375/505 | chr17 | TogoVar | ||
CAMKK1_chr17_3855315_3898053 | 3880338 | G | A | splice_region_variant others(1): Show |
LOW | HG02572.hp2 | a0001 | a0001c0012 | a0001c0012t0066 | a0001c0012t0066g0420 | 1 | 446 | 0.0022 | 0 | c.796 others(5): Show |
CAMKK1 | ENSG00000004660.15 | transcript | ENST00000348335.7 | protein_coding | 9/15 | chr17 | TogoVar | ||||||
CAMKK1_chr17_3855315_3898053 | 3884432 | G | A | splice_region_variant others(1): Show |
LOW | HG00408.hp1 HG00597.hp1 HG00639.hp2 others(49): Show |
a0001a0002a0004 | a0001c0002a0001c0008a0001c0013others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(25): Show | a0001c0002t0001g0225a0001c0002t0001g0289a0001c0002t0002g0153others(48): Show | 52 | 446 | 0.1166 | 0 | c.361 others(5): Show |
CAMKK1 | ENSG00000004660.15 | transcript | ENST00000348335.7 | protein_coding | 2/15 | chr17 | TogoVar | ||||||
CAMKK1_chr17_3855315_3898053 | 3884432 | G | T | splice_region_variant others(1): Show |
LOW | HG02258.hp1 HG02818.hp1 HG02818.hp2 others(1): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0016a0001c0002t0035a0001c0002t0052others(1): Show | a0001c0002t0016g0188a0001c0002t0035g0017a0001c0002t0052g0183others(1): Show | 4 | 446 | 0.0090 | 0 | c.361 others(5): Show |
CAMKK1 | ENSG00000004660.15 | transcript | ENST00000348335.7 | protein_coding | 2/15 | chr17 | TogoVar | ||||||
CAMKK2_chr12_121232692_121301709 | 121249941 | GGACGGCG others(9): Show |
G | splice_region_variant others(1): Show |
LOW | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 330 | 0.0030 | -16 | c.123 others(30): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 12/16 | chr12 | TogoVar | ||||||
CAMKK2_chr12_121232692_121301709 | 121249958 | C | T | splice_region_variant others(1): Show |
LOW | HG01109.hp1 HG02257.hp1 HG02258.hp2 others(9): Show |
a0001a0002 | a0001c0011a0001c0013a0002c0015others(1): Show | a0001c0011t0006a0001c0011t0010a0001c0011t0017others(5): Show | a0001c0011t0006g0003a0001c0011t0006g0014a0001c0011t0006g0015others(9): Show | 12 | 330 | 0.0364 | 0 | c.123 others(6): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 12/16 | chr12 | TogoVar | ||||||
CAMKK2_chr12_121232692_121301709 | 121252654 | C | T | splice_region_variant others(1): Show |
LOW | HG02280.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0263 | 1 | 330 | 0.0030 | 0 | c.116 others(6): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 11/16 | chr12 | TogoVar | ||||||
CAMKV_chr3_49852989_49874906 | 49860858 | T | C | splice_region_variant others(1): Show |
LOW | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 338 | 0.0030 | 0 | c.639 others(5): Show |
CAMKV | ENSG00000164076.17 | transcript | ENST00000477224.6 | protein_coding | 7/10 | chr3 | TogoVar | ||||||
CAMKV_chr3_49852989_49874906 | 49862406 | C | T | splice_region_variant others(1): Show |
LOW | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 338 | 0.0030 | 0 | c.-14 others(5): Show |
CAMKV | ENSG00000164076.17 | transcript | ENST00000477224.6 | protein_coding | 1/10 | chr3 | TogoVar | ||||||
CAMLG_chr5_134733548_134757157 | 134738791 | G | T | splice_region_variant others(1): Show |
LOW | HG00280.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0001 | 1 | 366 | 0.0027 | 0 | c.171 others(3): Show |
p.Ala others(5): Show |
CAMLG | ENSG00000164615.6 | transcript | ENST00000297156.4 | protein_coding | 1/4 | 244/2171 | 171/891 | 57/296 | chr5 | TogoVar | ||
CAMP_chr3_48218495_48230485 | 48224595 | C | CT | splice_region_variant others(1): Show |
LOW | HG01884.hp1 HG02280.hp2 HG02723.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 12 | 346 | 0.0347 | 1 | c.310 others(6): Show |
CAMP | ENSG00000164047.6 | transcript | ENST00000652295.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CAMP_chr3_48218495_48230485 | 48225293 | G | T | missense_variant others(1): Show |
MODERATE | HG04115.hp2 HG04204.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 2 | 346 | 0.0058 | 0 | c.382 others(3): Show |
p.Asp others(6): Show |
CAMP | ENSG00000164047.6 | transcript | ENST00000652295.2 | protein_coding | 4/4 | 399/591 | 382/513 | 128/170 | chr3 | TogoVar | ||
CAMSAP1_chr9_135803487_135912546 | 135823945 | C | T | splice_region_variant others(1): Show |
LOW | HG03209.hp1 | a0001 | a0001c0028 | a0001c0028t0029 | a0001c0028t0029g0323 | 1 | 340 | 0.0029 | 0 | c.140 others(6): Show |
CAMSAP1 | ENSG00000130559.19 | transcript | ENST00000389532.9 | protein_coding | 10/16 | chr9 | TogoVar | ||||||
CAMSAP1_chr9_135803487_135912546 | 135824880 | G | A | splice_region_variant others(1): Show |
LOW | HG01361.hp2 | a0001 | a0001c0031 | a0001c0031t0001 | a0001c0031t0001g0043 | 1 | 340 | 0.0029 | 0 | c.122 others(4): Show |
p.Leu others(6): Show |
CAMSAP1 | ENSG00000130559.19 | transcript | ENST00000389532.9 | protein_coding | 9/17 | 1611/8018 | 1224/4809 | 408/1602 | chr9 | TogoVar |