view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADPGK_chr15_72746294_72788758 | 72783553 | G | A | missense_variant | MODERATE | HG04228.hp1 | a0006 | a0006c0011 | a0006c0011t0002 | a0006c0011t0002g0218 | 1 | 368 | 0.0027 | 0 | c.139 others(3): Show |
p.Pro others(5): Show |
ADPGK | ENSG00000159322.18 | transcript | ENST00000456471.3 | protein_coding | 1/7 | 206/2608 | 139/1494 | 47/497 | chr15 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113403397 | G | A | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(133): Show |
a0002a0003a0004others(13): Show | a0002c0002a0002c0003a0002c0005others(32): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0018others(82): Show | a0002c0002t0002g0092 a0002c0002t0002g0103 a0002c0002t0002g0104 others(133): Show |
136 | 260 | 0.5231 | 0 | c.588 others(4): Show |
p.Thr others(7): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 5936/9722 | 5885/5904 | 1962/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113403401 | C | T | missense_variant | MODERATE | HG01496.hp2 | a0002 | a0002c0018 | a0002c0018t0026 | a0002c0018t0026g0009 | 1 | 260 | 0.0038 | 0 | c.588 others(4): Show |
p.Asp others(7): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 5932/9722 | 5881/5904 | 1961/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113403476 | T | C | missense_variant | MODERATE | HG02135.hp2 | a0015 | a0015c0051 | a0015c0051t0105 | a0015c0051t0105g0177 | 1 | 260 | 0.0038 | 0 | c.580 others(4): Show |
p.Lys others(7): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 5857/9722 | 5806/5904 | 1936/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113403671 | C | T | missense_variant | MODERATE | HG01884.hp2 | a0002 | a0002c0039 | a0002c0039t0073 | a0002c0039t0073g0059 | 1 | 260 | 0.0038 | 0 | c.561 others(4): Show |
p.Gly others(7): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 5662/9722 | 5611/5904 | 1871/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113403713 | G | A | missense_variant | MODERATE | NA21309.hp2 | a0030 | a0030c0030 | a0030c0030t0032 | a0030c0030t0032g0073 | 1 | 260 | 0.0038 | 0 | c.556 others(4): Show |
p.Pro others(7): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 5620/9722 | 5569/5904 | 1857/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113403818 | T | C | missense_variant | MODERATE | HG02280.hp2 | a0002 | a0002c0035 | a0002c0035t0081 | a0002c0035t0081g0164 | 1 | 260 | 0.0038 | 0 | c.546 others(4): Show |
p.Ile others(7): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 5515/9722 | 5464/5904 | 1822/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113403842 | C | T | missense_variant | MODERATE | HG02145.hp2 HG03209.hp1 |
a0002a0018 | a0002c0037a0018c0025 | a0002c0037t0038a0018c0025t0039 | a0002c0037t0038g0061 a0018c0025t0039g0260 |
2 | 260 | 0.0077 | 0 | c.544 others(4): Show |
p.Ala others(7): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 5491/9722 | 5440/5904 | 1814/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113403958 | C | T | missense_variant | MODERATE | HG02523.hp1 | a0016 | a0016c0046 | a0016c0046t0005 | a0016c0046t0005g0004 | 1 | 260 | 0.0038 | 0 | c.532 others(4): Show |
p.Arg others(7): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 5375/9722 | 5324/5904 | 1775/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113404048 | T | C | missense_variant | MODERATE | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0026 | 1 | 260 | 0.0038 | 0 | c.523 others(4): Show |
p.Gln others(7): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 5285/9722 | 5234/5904 | 1745/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113404072 | C | T | missense_variant | MODERATE | HG01167.hp2 HG01243.hp1 HG01496.hp2 others(5): Show |
a0002a0027a0030 | a0002c0008a0002c0018a0002c0029others(2): Show | a0002c0008t0027a0002c0008t0028a0002c0008t0029others(5): Show | a0002c0008t0027g0257 a0002c0008t0028g0196 a0002c0008t0029g0067 others(5): Show |
8 | 152 | 0.0526 | 0 | c.521 others(4): Show |
p.Arg others(7): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 5261/9722 | 5210/5904 | 1737/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113404108 | C | T | missense_variant | MODERATE | HG03710.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0139 | 1 | 260 | 0.0038 | 0 | c.517 others(4): Show |
p.Arg others(7): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 5225/9722 | 5174/5904 | 1725/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113404114 | C | T | missense_variant | MODERATE | HG02258.hp2 | a0002 | a0002c0008 | a0002c0008t0029 | a0002c0008t0029g0067 | 1 | 260 | 0.0038 | 0 | c.516 others(4): Show |
p.Arg others(7): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 5219/9722 | 5168/5904 | 1723/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113404537 | C | T | missense_variant | MODERATE | HG01515.hp1 | a0012 | a0012c0044 | a0012c0044t0001 | a0012c0044t0001g0040 | 1 | 260 | 0.0038 | 0 | c.474 others(4): Show |
p.Gly others(7): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 4796/9722 | 4745/5904 | 1582/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113404628 | C | T | missense_variant | MODERATE | NA21309.hp2 | a0030 | a0030c0030 | a0030c0030t0032 | a0030c0030t0032g0073 | 1 | 260 | 0.0038 | 0 | c.465 others(4): Show |
p.Ala others(7): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 4705/9722 | 4654/5904 | 1552/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113404909 | G | A | missense_variant | MODERATE | HG02055.hp1 HG02559.hp2 HG02809.hp2 others(3): Show |
a0002 | a0002c0006a0002c0036 | a0002c0006t0013a0002c0006t0101a0002c0006t0103others(1): Show | a0002c0006t0013g0056 a0002c0006t0013g0213 a0002c0006t0013g0241 others(3): Show |
6 | 260 | 0.0231 | 0 | c.437 others(4): Show |
p.Ala others(7): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 4424/9722 | 4373/5904 | 1458/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113404925 | G | A | missense_variant | MODERATE | HG02135.hp2 | a0015 | a0015c0051 | a0015c0051t0105 | a0015c0051t0105g0177 | 1 | 260 | 0.0038 | 0 | c.435 others(4): Show |
p.Arg others(7): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 4408/9722 | 4357/5904 | 1453/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113405012 | C | T | missense_variant | MODERATE | HG00099.hp1 HG01074.hp1 HG01167.hp1 others(20): Show |
a0002a0010a0015 | a0002c0003a0002c0032a0010c0031others(1): Show | a0002c0003t0008a0002c0003t0009a0002c0003t0020others(11): Show | a0002c0003t0008g0027 a0002c0003t0008g0105 a0002c0003t0008g0236 others(20): Show |
23 | 260 | 0.0885 | 0 | c.427 others(4): Show |
p.Gly others(7): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 4321/9722 | 4270/5904 | 1424/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113405192 | C | A | missense_variant | MODERATE | HG00099.hp2 HG00280.hp1 HG00639.hp2 others(30): Show |
a0002a0004a0005others(1): Show | a0002c0005a0002c0006a0002c0007others(6): Show | a0002c0005t0012a0002c0005t0023a0002c0005t0090others(21): Show | a0002c0005t0012g0074 a0002c0005t0023g0062 a0002c0005t0023g0071 others(30): Show |
33 | 260 | 0.1269 | 0 | c.409 others(4): Show |
p.Ala others(7): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 4141/9722 | 4090/5904 | 1364/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113405221 | C | G | missense_variant | MODERATE | HG01358.hp2 HG02055.hp2 HG03130.hp2 others(4): Show |
a0003 | a0003c0012a0003c0015a0003c0040others(1): Show | a0003c0012t0033a0003c0012t0034a0003c0012t0037others(3): Show | a0003c0012t0033g0078 a0003c0012t0034g0015 a0003c0012t0037g0069 others(4): Show |
7 | 260 | 0.0269 | 0 | c.406 others(4): Show |
p.Arg others(7): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 4112/9722 | 4061/5904 | 1354/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113405654 | G | A | missense_variant | MODERATE | HG02630.hp2 | a0002 | a0002c0032 | a0002c0032t0087 | a0002c0032t0087g0159 | 1 | 260 | 0.0038 | 0 | c.362 others(4): Show |
p.Arg others(7): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 3679/9722 | 3628/5904 | 1210/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113405687 | C | T | missense_variant | MODERATE | HG02886.hp2 | a0002 | a0002c0036 | a0002c0036t0102 | a0002c0036t0102g0070 | 1 | 260 | 0.0038 | 0 | c.359 others(4): Show |
p.Val others(7): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 3646/9722 | 3595/5904 | 1199/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113406136 | C | T | missense_variant | MODERATE | HG01071.hp2 HG01243.hp1 HG02280.hp2 others(3): Show |
a0002a0003a0006 | a0002c0029a0002c0035a0003c0015others(1): Show | a0002c0029t0025a0002c0035t0081a0003c0015t0014others(1): Show | a0002c0029t0025g0122 a0002c0035t0081g0164 a0003c0015t0014g0100 others(3): Show |
6 | 260 | 0.0231 | 0 | c.314 others(4): Show |
p.Arg others(7): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 3197/9722 | 3146/5904 | 1049/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113406141 | C | A | missense_variant | MODERATE | NA19091.hp1 | a0027 | a0027c0023 | a0027c0023t0030 | a0027c0023t0030g0137 | 1 | 260 | 0.0038 | 0 | c.314 others(4): Show |
p.Lys others(7): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 3192/9722 | 3141/5904 | 1047/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113406283 | T | G | missense_variant | MODERATE | HG01358.hp2 HG03669.hp2 NA18999.hp1 others(1): Show |
a0003 | a0003c0015a0003c0040a0003c0052 | a0003c0015t0014a0003c0040t0035a0003c0052t0036 | a0003c0015t0014g0100 a0003c0015t0014g0102 a0003c0040t0035g0193 others(1): Show |
4 | 260 | 0.0154 | 0 | c.299 others(4): Show |
p.Lys others(7): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 3050/9722 | 2999/5904 | 1000/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113406332 | C | T | missense_variant | MODERATE | HG02148.hp2 | a0002 | a0002c0034 | a0002c0034t0002 | a0002c0034t0002g0050 | 1 | 260 | 0.0038 | 0 | c.295 others(4): Show |
p.Asp others(6): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 3001/9722 | 2950/5904 | 984/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113406509 | G | A | missense_variant | MODERATE | HG04228.hp2 | a0002 | a0002c0041 | a0002c0041t0002 | a0002c0041t0002g0083 | 1 | 259 | 0.0039 | 0 | c.277 others(4): Show |
p.Arg others(6): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 2824/9722 | 2773/5904 | 925/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113406509 | G | T | missense_variant | MODERATE | NA18612.hp1 | a0023 | a0023c0042 | a0023c0042t0001 | a0023c0042t0001g0025 | 1 | 259 | 0.0039 | 0 | c.277 others(4): Show |
p.Arg others(6): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 2824/9722 | 2773/5904 | 925/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113406809 | C | G | missense_variant | MODERATE | HG03688.hp1 | a0020 | a0020c0033 | a0020c0033t0048 | a0020c0033t0048g0089 | 1 | 260 | 0.0038 | 0 | c.247 others(4): Show |
p.Ala others(6): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 2524/9722 | 2473/5904 | 825/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113406851 | A | G | missense_variant | MODERATE | HG01168.hp2 | a0010 | a0010c0031 | a0010c0031t0086 | a0010c0031t0086g0239 | 1 | 260 | 0.0038 | 0 | c.243 others(4): Show |
p.Phe others(6): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 2482/9722 | 2431/5904 | 811/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113406992 | T | C | missense_variant | MODERATE | HG01516.hp2 HG02109.hp2 |
a0007 | a0007c0016 | a0007c0016t0002 | a0007c0016t0002g0227 a0007c0016t0002g0229 |
2 | 260 | 0.0077 | 0 | c.229 others(4): Show |
p.Thr others(6): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 2341/9722 | 2290/5904 | 764/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113407067 | C | T | missense_variant | MODERATE | HG01071.hp2 NA19030.hp2 |
a0006 | a0006c0013 | a0006c0013t0024 | a0006c0013t0024g0060 a0006c0013t0024g0230 |
2 | 260 | 0.0077 | 0 | c.221 others(4): Show |
p.Gly others(6): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 2266/9722 | 2215/5904 | 739/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113407093 | G | A | missense_variant | MODERATE | NA18983.hp2 | a0024 | a0024c0050 | a0024c0050t0001 | a0024c0050t0001g0180 | 1 | 260 | 0.0038 | 0 | c.218 others(4): Show |
p.Ala others(6): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 2240/9722 | 2189/5904 | 730/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113407617 | G | T | missense_variant | MODERATE | HG02738.hp1 | a0017 | a0017c0028 | a0017c0028t0066 | a0017c0028t0066g0018 | 1 | 260 | 0.0038 | 0 | c.166 others(4): Show |
p.Phe others(6): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 1716/9722 | 1665/5904 | 555/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113407657 | A | G | missense_variant | MODERATE | HG01978.hp2 | a0013 | a0013c0027 | a0013c0027t0001 | a0013c0027t0001g0088 | 1 | 260 | 0.0038 | 0 | c.162 others(4): Show |
p.Met others(6): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 1676/9722 | 1625/5904 | 542/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113407687 | T | C | missense_variant | MODERATE | HG02135.hp2 | a0015 | a0015c0051 | a0015c0051t0105 | a0015c0051t0105g0177 | 1 | 260 | 0.0038 | 0 | c.159 others(4): Show |
p.Lys others(6): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 1646/9722 | 1595/5904 | 532/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113407693 | C | T | missense_variant | MODERATE | HG03209.hp1 | a0018 | a0018c0025 | a0018c0025t0039 | a0018c0025t0039g0260 | 1 | 260 | 0.0038 | 0 | c.158 others(4): Show |
p.Arg others(6): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 1640/9722 | 1589/5904 | 530/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113407748 | C | T | missense_variant | MODERATE | HG01255.hp1 | a0011 | a0011c0026 | a0011c0026t0002 | a0011c0026t0002g0245 | 1 | 260 | 0.0038 | 0 | c.153 others(4): Show |
p.Ala others(6): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 1585/9722 | 1534/5904 | 512/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113407778 | C | T | missense_variant | MODERATE | HG03209.hp1 | a0018 | a0018c0025 | a0018c0025t0039 | a0018c0025t0039g0260 | 1 | 260 | 0.0038 | 0 | c.150 others(4): Show |
p.Val others(6): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 1555/9722 | 1504/5904 | 502/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113408021 | C | T | missense_variant | MODERATE | NA20805.hp2 | a0029 | a0029c0022 | a0029c0022t0001 | a0029c0022t0001g0181 | 1 | 260 | 0.0038 | 0 | c.126 others(4): Show |
p.Glu others(6): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 1312/9722 | 1261/5904 | 421/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113408057 | C | T | missense_variant | MODERATE | NA19007.hp2 | a0026 | a0026c0024 | a0026c0024t0005 | a0026c0024t0005g0005 | 1 | 260 | 0.0038 | 0 | c.122 others(4): Show |
p.Gly others(6): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 1276/9722 | 1225/5904 | 409/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113422857 | C | T | missense_variant | MODERATE | HG00099.hp2 HG01256.hp1 HG01258.hp1 |
a0005 | a0005c0010 | a0005c0010t0010 | a0005c0010t0010g0140 a0005c0010t0010g0141 a0005c0010t0010g0142 |
3 | 260 | 0.0115 | 0 | c.103 others(4): Show |
p.Ala others(6): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/8 | 1081/9722 | 1030/5904 | 344/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113424243 | A | C | missense_variant | MODERATE | NA19091.hp1 NA20805.hp2 |
a0027a0029 | a0027c0023a0029c0022 | a0027c0023t0030a0029c0022t0001 | a0027c0023t0030g0137 a0029c0022t0001g0181 |
2 | 260 | 0.0077 | 0 | c.881 others(3): Show |
p.Leu others(6): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 6/8 | 932/9722 | 881/5904 | 294/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113433759 | G | A | missense_variant | MODERATE | HG01516.hp1 NA20129.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0059a0002c0003t0083 | a0001c0001t0059g0154 a0002c0003t0083g0228 |
2 | 260 | 0.0077 | 0 | c.488 others(3): Show |
p.Thr others(6): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 3/8 | 539/9722 | 488/5904 | 163/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113453256 | A | G | missense_variant | MODERATE | HG06807.hp1 | a0022 | a0022c0020 | a0022c0020t0067 | a0022c0020t0067g0014 | 1 | 260 | 0.0038 | 0 | c.182 others(3): Show |
p.Met others(5): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 1/8 | 233/9722 | 182/5904 | 61/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113453317 | C | G | missense_variant | MODERATE | NA20300.hp1 | a0028 | a0028c0017 | a0028c0017t0002 | a0028c0017t0002g0007 | 1 | 260 | 0.0038 | 0 | c.121 others(3): Show |
p.Gly others(5): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 1/8 | 172/9722 | 121/5904 | 41/1967 | chr13 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113453418 | G | A | missense_variant | MODERATE | NA19000.hp1 | a0025 | a0025c0055 | a0025c0055t0004 | a0025c0055t0004g0261 | 1 | 260 | 0.0038 | 0 | c.20C others(2): Show |
p.Ala others(4): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 1/8 | 71/9722 | 20/5904 | 7/1967 | chr13 | TogoVar | |||
ADPRH_chr3_119574492_119594945 | 119582266 | A | G | missense_variant | MODERATE | HG00741.hp2 | a0003 | a0003c0011 | a0003c0011t0003 | a0003c0011t0003g0001 | 1 | 452 | 0.0022 | 0 | c.97A others(2): Show |
p.Ile others(5): Show |
ADPRH | ENSG00000144843.12 | transcript | ENST00000357003.8 | protein_coding | 3/5 | 579/3623 | 97/1074 | 33/357 | chr3 | TogoVar | |||
ADPRH_chr3_119574492_119594945 | 119587732 | G | A | missense_variant | MODERATE | NA19067.hp2 NA19088.hp2 |
a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0021 | 2 | 452 | 0.0044 | 0 | c.928 others(3): Show |
p.Ala others(6): Show |
ADPRH | ENSG00000144843.12 | transcript | ENST00000357003.8 | protein_coding | 5/5 | 1410/3623 | 928/1074 | 310/357 | chr3 | TogoVar | |||
ADPRM_chr17_10692594_10716558 | 10704955 | T | G | missense_variant | MODERATE | HG03491.hp1 | a0006 | a0006c0006 | a0006c0006t0002 | a0006c0006t0002g0088 | 1 | 400 | 0.0025 | 0 | c.29T others(2): Show |
p.Leu others(5): Show |
ADPRM | ENSG00000170222.12 | transcript | ENST00000379774.5 | protein_coding | 2/4 | 120/1534 | 29/1029 | 10/342 | chr17 | TogoVar |