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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADGRE1_chr19_6882579_6945450 | 6937614 | T | C | missense_variant | MODERATE | HG01099.hp2 | a0061 | a0061c0038 | a0061c0038t0001 | a0061c0038t0001g0147 | 1 | 338 | 0.0030 | 0 | c.262 others(4): Show |
p.Ile others(6): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 20/21 | 2651/3112 | 2621/2661 | 874/886 | chr19 | TogoVar | ||
ADGRE1_chr19_6882579_6945450 | 6937631 | C | A | missense_variant | MODERATE | HG02559.hp2 HG03225.hp2 |
a0045a0052 | a0045c0053a0052c0045 | a0045c0053t0007a0052c0045t0007 | a0045c0053t0007g0094a0052c0045t0007g0131 | 2 | 338 | 0.0059 | 0 | c.263 others(4): Show |
p.Pro others(6): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 20/21 | 2668/3112 | 2638/2661 | 880/886 | chr19 | TogoVar | ||
ADGRE1_chr19_6882579_6945450 | 6937647 | C | T | missense_variant others(1): Show |
MODERATE | HG02055.hp1 HG02897.hp2 |
a0028a0042 | a0028c0066a0042c0057 | a0028c0066t0004a0042c0057t0004 | a0028c0066t0004g0080a0042c0057t0004g0110 | 2 | 338 | 0.0059 | 0 | c.265 others(4): Show |
p.Thr others(6): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 20/21 | 2684/3112 | 2654/2661 | 885/886 | chr19 | TogoVar | ||
ADGRE2_chr19_14727392_14783560 | 14743526 | C | T | missense_variant | MODERATE | HG00639.hp2 HG01081.hp2 |
a0012 | a0012c0016 | a0012c0016t0001 | a0012c0016t0001g0151a0012c0016t0001g0154 | 2 | 218 | 0.0092 | 0 | c.235 others(4): Show |
p.Arg others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 20/21 | 2832/6791 | 2357/2472 | 786/823 | chr19 | TogoVar | ||
ADGRE2_chr19_14727392_14783560 | 14743767 | G | A | missense_variant | MODERATE | HG01978.hp2 | a0024 | a0024c0024 | a0024c0024t0052 | a0024c0024t0052g0187 | 1 | 218 | 0.0046 | 0 | c.220 others(4): Show |
p.Ala others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 19/21 | 2676/6791 | 2201/2472 | 734/823 | chr19 | TogoVar | ||
ADGRE2_chr19_14727392_14783560 | 14743776 | G | A | missense_variant | MODERATE | HG02897.hp1 | a0025 | a0025c0044 | a0025c0044t0009 | a0025c0044t0009g0129 | 1 | 218 | 0.0046 | 0 | c.219 others(4): Show |
p.Ala others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 19/21 | 2667/6791 | 2192/2472 | 731/823 | chr19 | TogoVar | ||
ADGRE2_chr19_14727392_14783560 | 14746255 | T | G | missense_variant | MODERATE | HG02109.hp2 HG02145.hp1 HG02145.hp2 others(16): Show |
a0004a0006a0008others(1): Show | a0004c0004a0006c0007a0006c0037others(3): Show | a0004c0004t0007a0004c0004t0016a0004c0004t0020others(9): Show | a0004c0004t0007g0006a0004c0004t0007g0047a0004c0004t0007g0054others(16): Show | 19 | 218 | 0.0872 | 0 | c.216 others(4): Show |
p.Glu others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 18/21 | 2635/6791 | 2160/2472 | 720/823 | chr19 | TogoVar | ||
ADGRE2_chr19_14727392_14783560 | 14751466 | G | A | missense_variant | MODERATE | HG02132.hp2 HG03654.hp2 HG03669.hp1 others(5): Show |
a0005a0023 | a0005c0006a0005c0020a0005c0041others(1): Show | a0005c0006t0015a0005c0006t0018a0005c0020t0018others(3): Show | a0005c0006t0015g0083a0005c0006t0015g0084a0005c0006t0015g0090others(5): Show | 8 | 218 | 0.0367 | 0 | c.199 others(4): Show |
p.Ser others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 16/21 | 2469/6791 | 1994/2472 | 665/823 | chr19 | TogoVar | ||
ADGRE2_chr19_14727392_14783560 | 14751574 | C | T | missense_variant | MODERATE | HG02723.hp1 HG02922.hp1 |
a0009 | a0009c0018 | a0009c0018t0001a0009c0018t0041 | a0009c0018t0001g0213a0009c0018t0041g0102 | 2 | 218 | 0.0092 | 0 | c.188 others(4): Show |
p.Arg others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 16/21 | 2361/6791 | 1886/2472 | 629/823 | chr19 | TogoVar | ||
ADGRE2_chr19_14727392_14783560 | 14751618 | C | G | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(172): Show |
a0001a0002a0004others(22): Show | a0001c0001a0001c0009a0001c0010others(36): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(78): Show | a0001c0001t0001g0120a0001c0001t0001g0142a0001c0001t0001g0144others(170): Show | 175 | 218 | 0.8028 | 0 | c.184 others(4): Show |
p.Leu others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 16/21 | 2317/6791 | 1842/2472 | 614/823 | chr19 | TogoVar | ||
ADGRE2_chr19_14727392_14783560 | 14751646 | G | A | missense_variant | MODERATE | HG02145.hp1 HG02145.hp2 HG02451.hp2 others(6): Show |
a0006a0008a0011 | a0006c0007a0006c0037a0008c0034others(2): Show | a0006c0007t0007a0006c0037t0020a0008c0034t0035others(3): Show | a0006c0007t0007g0048a0006c0007t0007g0049a0006c0007t0007g0050others(6): Show | 9 | 218 | 0.0413 | 0 | c.181 others(4): Show |
p.Thr others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 16/21 | 2289/6791 | 1814/2472 | 605/823 | chr19 | TogoVar | ||
ADGRE2_chr19_14727392_14783560 | 14752493 | T | C | missense_variant | MODERATE | HG02055.hp2 HG02280.hp1 HG02615.hp1 others(3): Show |
a0007a0010 | a0007c0008a0007c0026a0010c0019 | a0007c0008t0024a0007c0008t0037a0007c0026t0050others(1): Show | a0007c0008t0024g0056a0007c0008t0024g0059a0007c0008t0037g0110others(3): Show | 6 | 218 | 0.0275 | 0 | c.162 others(4): Show |
p.Met others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 15/21 | 2099/6791 | 1624/2472 | 542/823 | chr19 | TogoVar | ||
ADGRE2_chr19_14727392_14783560 | 14754990 | G | C | missense_variant | MODERATE | HG02109.hp1 HG03540.hp2 |
a0018a0022 | a0018c0039a0022c0027 | a0018c0039t0014a0022c0027t0033 | a0018c0039t0014g0061a0022c0027t0033g0060 | 2 | 218 | 0.0092 | 0 | c.155 others(4): Show |
p.Ser others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 14/21 | 2029/6791 | 1554/2472 | 518/823 | chr19 | TogoVar | ||
ADGRE2_chr19_14727392_14783560 | 14764576 | G | A | missense_variant | MODERATE | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(40): Show |
a0003a0014a0015others(1): Show | a0003c0003a0003c0014a0014c0033others(2): Show | a0003c0003t0002a0003c0003t0005a0003c0003t0011others(6): Show | a0003c0003t0002g0003a0003c0003t0002g0013a0003c0003t0002g0014others(40): Show | 43 | 218 | 0.1973 | 0 | c.941 others(3): Show |
p.Ala others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/21 | 1416/6791 | 941/2472 | 314/823 | chr19 | TogoVar | ||
ADGRE2_chr19_14727392_14783560 | 14765383 | G | T | missense_variant | MODERATE | HG02145.hp2 HG02809.hp1 HG02976.hp1 others(2): Show |
a0006 | a0006c0007a0006c0037 | a0006c0007t0007a0006c0037t0020 | a0006c0007t0007g0048a0006c0007t0007g0049a0006c0007t0007g0050others(2): Show | 5 | 218 | 0.0229 | 0 | c.843 others(3): Show |
p.Phe others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 10/21 | 1318/6791 | 843/2472 | 281/823 | chr19 | TogoVar | ||
ADGRE2_chr19_14727392_14783560 | 14765568 | T | A | missense_variant others(1): Show |
MODERATE | HG00733.hp2 | a0021 | a0021c0028 | a0021c0028t0001 | a0021c0028t0001g0149 | 1 | 218 | 0.0046 | 0 | c.784 others(3): Show |
p.Met others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 9/21 | 1259/6791 | 784/2472 | 262/823 | chr19 | TogoVar | ||
ADGRE2_chr19_14727392_14783560 | 14765717 | C | G | missense_variant | MODERATE | HG01243.hp2 | a0016 | a0016c0040 | a0016c0040t0010 | a0016c0040t0010g0085 | 1 | 218 | 0.0046 | 0 | c.722 others(3): Show |
p.Arg others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 8/21 | 1197/6791 | 722/2472 | 241/823 | chr19 | TogoVar | ||
ADGRE2_chr19_14727392_14783560 | 14765717 | C | T | missense_variant | MODERATE | NA18906.hp2 | a0017 | a0017c0036 | a0017c0036t0038 | a0017c0036t0038g0092 | 1 | 218 | 0.0046 | 0 | c.722 others(3): Show |
p.Arg others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 8/21 | 1197/6791 | 722/2472 | 241/823 | chr19 | TogoVar | ||
ADGRE2_chr19_14727392_14783560 | 14765718 | G | C | missense_variant | MODERATE | HG01243.hp2 | a0016 | a0016c0040 | a0016c0040t0010 | a0016c0040t0010g0085 | 1 | 218 | 0.0046 | 0 | c.721 others(3): Show |
p.Arg others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 8/21 | 1196/6791 | 721/2472 | 241/823 | chr19 | TogoVar | ||
ADGRE2_chr19_14727392_14783560 | 14765733 | A | G | missense_variant | MODERATE | HG03831.hp2 | a0020 | a0020c0043 | a0020c0043t0028 | a0020c0043t0028g0125 | 1 | 218 | 0.0046 | 0 | c.706 others(3): Show |
p.Tyr others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 8/21 | 1181/6791 | 706/2472 | 236/823 | chr19 | TogoVar | ||
ADGRE2_chr19_14727392_14783560 | 14765757 | C | T | missense_variant | MODERATE | HG03041.hp2 | a0014 | a0014c0033 | a0014c0033t0002 | a0014c0033t0002g0036 | 1 | 218 | 0.0046 | 0 | c.682 others(3): Show |
p.Val others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 8/21 | 1157/6791 | 682/2472 | 228/823 | chr19 | TogoVar | ||
ADGRE2_chr19_14727392_14783560 | 14766306 | T | C | missense_variant | MODERATE | NA18984.hp1 | a0027 | a0027c0030 | a0027c0030t0004 | a0027c0030t0004g0210 | 1 | 218 | 0.0046 | 0 | c.563 others(3): Show |
p.Gln others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 7/21 | 1038/6791 | 563/2472 | 188/823 | chr19 | TogoVar | ||
ADGRE2_chr19_14727392_14783560 | 14766336 | G | T | missense_variant | MODERATE | HG02257.hp1 HG02717.hp1 HG03041.hp2 others(1): Show |
a0008a0014a0015 | a0008c0034a0008c0042a0014c0033others(1): Show | a0008c0034t0035a0008c0042t0031a0014c0033t0002others(1): Show | a0008c0034t0035g0067a0008c0042t0031g0039a0014c0033t0002g0036others(1): Show | 4 | 218 | 0.0184 | 0 | c.533 others(3): Show |
p.Thr others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 7/21 | 1008/6791 | 533/2472 | 178/823 | chr19 | TogoVar | ||
ADGRE2_chr19_14727392_14783560 | 14766361 | C | T | missense_variant | MODERATE | HG03195.hp2 | a0028 | a0028c0022 | a0028c0022t0001 | a0028c0022t0001g0119 | 1 | 218 | 0.0046 | 0 | c.508 others(3): Show |
p.Gly others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 7/21 | 983/6791 | 508/2472 | 170/823 | chr19 | TogoVar | ||
ADGRE2_chr19_14727392_14783560 | 14766987 | G | C | missense_variant | MODERATE | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(119): Show |
a0002a0003a0004others(11): Show | a0002c0002a0002c0005a0002c0013others(19): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0006others(50): Show | a0002c0002t0001g0156a0002c0002t0001g0157a0002c0002t0001g0158others(118): Show | 122 | 218 | 0.5596 | 0 | c.478 others(3): Show |
p.Leu others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 6/21 | 953/6791 | 478/2472 | 160/823 | chr19 | TogoVar | ||
ADGRE2_chr19_14727392_14783560 | 14767004 | T | A | missense_variant | MODERATE | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(119): Show |
a0002a0003a0004others(11): Show | a0002c0002a0002c0005a0002c0013others(19): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0006others(50): Show | a0002c0002t0001g0156a0002c0002t0001g0157a0002c0002t0001g0158others(118): Show | 122 | 218 | 0.5596 | 0 | c.461 others(3): Show |
p.Lys others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 6/21 | 936/6791 | 461/2472 | 154/823 | chr19 | TogoVar | ||
ADGRE2_chr19_14727392_14783560 | 14767008 | G | A | missense_variant | MODERATE | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(119): Show |
a0002a0003a0004others(11): Show | a0002c0002a0002c0005a0002c0013others(19): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0006others(50): Show | a0002c0002t0001g0156a0002c0002t0001g0157a0002c0002t0001g0158others(118): Show | 122 | 218 | 0.5596 | 0 | c.457 others(3): Show |
p.Leu others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 6/21 | 932/6791 | 457/2472 | 153/823 | chr19 | TogoVar | ||
ADGRE3_chr19_14614117_14679844 | 14625514 | C | T | missense_variant | MODERATE | HG00280.hp2 HG01346.hp2 |
a0009 | a0009c0014 | a0009c0014t0002 | a0009c0014t0002g0279a0009c0014t0002g0282 | 2 | 372 | 0.0054 | 0 | c.189 others(4): Show |
p.Gly others(6): Show |
ADGRE3 | ENSG00000131355.15 | transcript | ENST00000253673.6 | protein_coding | 15/16 | 1972/2349 | 1898/1959 | 633/652 | chr19 | TogoVar | ||
ADGRE3_chr19_14614117_14679844 | 14630130 | G | A | missense_variant | MODERATE | HG02280.hp1 HG02559.hp1 HG02559.hp2 others(4): Show |
a0007a0022 | a0007c0010a0007c0012a0022c0024 | a0007c0010t0001a0007c0010t0002a0007c0012t0001others(1): Show | a0007c0010t0001g0232a0007c0010t0001g0234a0007c0010t0001g0235others(4): Show | 7 | 372 | 0.0188 | 0 | c.172 others(4): Show |
p.Pro others(6): Show |
ADGRE3 | ENSG00000131355.15 | transcript | ENST00000253673.6 | protein_coding | 14/16 | 1795/2349 | 1721/1959 | 574/652 | chr19 | TogoVar | ||
ADGRE3_chr19_14614117_14679844 | 14632996 | A | C | missense_variant | MODERATE | HG03486.hp1 | a0021 | a0021c0022 | a0021c0022t0001 | a0021c0022t0001g0341 | 1 | 372 | 0.0027 | 0 | c.156 others(4): Show |
p.Phe others(6): Show |
ADGRE3 | ENSG00000131355.15 | transcript | ENST00000253673.6 | protein_coding | 13/16 | 1642/2349 | 1568/1959 | 523/652 | chr19 | TogoVar | ||
ADGRE3_chr19_14614117_14679844 | 14638124 | G | A | missense_variant | MODERATE | NA18957.hp2 | a0020 | a0020c0017 | a0020c0017t0001 | a0020c0017t0001g0199 | 1 | 372 | 0.0027 | 0 | c.146 others(4): Show |
p.Leu others(6): Show |
ADGRE3 | ENSG00000131355.15 | transcript | ENST00000253673.6 | protein_coding | 11/16 | 1539/2349 | 1465/1959 | 489/652 | chr19 | TogoVar | ||
ADGRE3_chr19_14614117_14679844 | 14638163 | C | T | missense_variant | MODERATE | HG02895.hp1 HG02897.hp2 HG03540.hp2 |
a0012a0023 | a0012c0013a0023c0021 | a0012c0013t0001a0023c0021t0001 | a0012c0013t0001g0018a0012c0013t0001g0019a0023c0021t0001g0038 | 3 | 372 | 0.0081 | 0 | c.142 others(4): Show |
p.Ala others(6): Show |
ADGRE3 | ENSG00000131355.15 | transcript | ENST00000253673.6 | protein_coding | 11/16 | 1500/2349 | 1426/1959 | 476/652 | chr19 | TogoVar | ||
ADGRE3_chr19_14614117_14679844 | 14638237 | A | G | missense_variant | MODERATE | HG02976.hp1 | a0016 | a0016c0028 | a0016c0028t0002 | a0016c0028t0002g0016 | 1 | 372 | 0.0027 | 0 | c.135 others(4): Show |
p.Leu others(6): Show |
ADGRE3 | ENSG00000131355.15 | transcript | ENST00000253673.6 | protein_coding | 11/16 | 1426/2349 | 1352/1959 | 451/652 | chr19 | TogoVar | ||
ADGRE3_chr19_14614117_14679844 | 14638319 | C | T | missense_variant | MODERATE | HG00673.hp1 HG02015.hp2 HG02132.hp1 others(6): Show |
a0006a0011 | a0006c0008a0011c0011 | a0006c0008t0001a0011c0011t0001 | a0006c0008t0001g0042a0006c0008t0001g0045a0006c0008t0001g0047others(6): Show | 9 | 372 | 0.0242 | 0 | c.127 others(4): Show |
p.Gly others(6): Show |
ADGRE3 | ENSG00000131355.15 | transcript | ENST00000253673.6 | protein_coding | 11/16 | 1344/2349 | 1270/1959 | 424/652 | chr19 | TogoVar | ||
ADGRE3_chr19_14614117_14679844 | 14641432 | C | T | missense_variant | MODERATE | HG03471.hp1 | a0019 | a0019c0020 | a0019c0020t0002 | a0019c0020t0002g0287 | 1 | 372 | 0.0027 | 0 | c.123 others(4): Show |
p.Arg others(6): Show |
ADGRE3 | ENSG00000131355.15 | transcript | ENST00000253673.6 | protein_coding | 10/16 | 1309/2349 | 1235/1959 | 412/652 | chr19 | TogoVar | ||
ADGRE3_chr19_14614117_14679844 | 14641513 | C | T | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(317): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0006a0001c0032others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(27): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(317): Show | 320 | 372 | 0.8602 | 0 | c.115 others(4): Show |
p.Arg others(6): Show |
ADGRE3 | ENSG00000131355.15 | transcript | ENST00000253673.6 | protein_coding | 10/16 | 1228/2349 | 1154/1959 | 385/652 | chr19 | TogoVar | ||
ADGRE3_chr19_14614117_14679844 | 14641532 | G | C | missense_variant | MODERATE | HG01516.hp2 HG01517.hp2 HG02622.hp1 others(4): Show |
a0008a0010 | a0008c0009a0010c0015 | a0008c0009t0001a0010c0015t0001 | a0008c0009t0001g0227a0008c0009t0001g0228a0008c0009t0001g0229others(4): Show | 7 | 372 | 0.0188 | 0 | c.113 others(4): Show |
p.Leu others(6): Show |
ADGRE3 | ENSG00000131355.15 | transcript | ENST00000253673.6 | protein_coding | 10/16 | 1209/2349 | 1135/1959 | 379/652 | chr19 | TogoVar | ||
ADGRE3_chr19_14614117_14679844 | 14641546 | G | A | missense_variant | MODERATE | HG00140.hp1 | a0024 | a0024c0025 | a0024c0025t0001 | a0024c0025t0001g0336 | 1 | 372 | 0.0027 | 0 | c.112 others(4): Show |
p.Ala others(6): Show |
ADGRE3 | ENSG00000131355.15 | transcript | ENST00000253673.6 | protein_coding | 10/16 | 1195/2349 | 1121/1959 | 374/652 | chr19 | TogoVar | ||
ADGRE3_chr19_14614117_14679844 | 14644224 | G | T | missense_variant | MODERATE | NA19056.hp2 | a0018 | a0018c0019 | a0018c0019t0001 | a0018c0019t0001g0138 | 1 | 372 | 0.0027 | 0 | c.934 others(3): Show |
p.Gln others(6): Show |
ADGRE3 | ENSG00000131355.15 | transcript | ENST00000253673.6 | protein_coding | 9/16 | 1008/2349 | 934/1959 | 312/652 | chr19 | TogoVar | ||
ADGRE3_chr19_14614117_14679844 | 14647356 | G | A | missense_variant | MODERATE | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(121): Show |
a0002a0004a0006others(10): Show | a0002c0003a0002c0005a0002c0018others(14): Show | a0002c0003t0001a0002c0005t0001a0002c0005t0002others(15): Show | a0002c0003t0001g0021a0002c0003t0001g0022a0002c0003t0001g0028others(121): Show | 124 | 372 | 0.3333 | 0 | c.707 others(3): Show |
p.Ala others(6): Show |
ADGRE3 | ENSG00000131355.15 | transcript | ENST00000253673.6 | protein_coding | 8/16 | 781/2349 | 707/1959 | 236/652 | chr19 | TogoVar | ||
ADGRE3_chr19_14614117_14679844 | 14658527 | C | G | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(306): Show |
a0001a0002a0004others(17): Show | a0001c0001a0001c0006a0001c0032others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(28): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(306): Show | 309 | 372 | 0.8307 | 0 | c.379 others(3): Show |
p.Glu others(6): Show |
ADGRE3 | ENSG00000131355.15 | transcript | ENST00000253673.6 | protein_coding | 5/16 | 453/2349 | 379/1959 | 127/652 | chr19 | TogoVar | ||
ADGRE3_chr19_14614117_14679844 | 14658533 | T | G | missense_variant | MODERATE | HG02976.hp1 HG03471.hp2 |
a0015a0016 | a0015c0029a0016c0028 | a0015c0029t0001a0016c0028t0002 | a0015c0029t0001g0017a0016c0028t0002g0016 | 2 | 372 | 0.0054 | 0 | c.373 others(3): Show |
p.Thr others(6): Show |
ADGRE3 | ENSG00000131355.15 | transcript | ENST00000253673.6 | protein_coding | 5/16 | 447/2349 | 373/1959 | 125/652 | chr19 | TogoVar | ||
ADGRE3_chr19_14614117_14679844 | 14663456 | C | T | missense_variant | MODERATE | NA19085.hp1 | a0014 | a0014c0016 | a0014c0016t0001 | a0014c0016t0001g0333 | 1 | 372 | 0.0027 | 0 | c.161 others(3): Show |
p.Gly others(5): Show |
ADGRE3 | ENSG00000131355.15 | transcript | ENST00000253673.6 | protein_coding | 3/16 | 235/2349 | 161/1959 | 54/652 | chr19 | TogoVar | ||
ADGRE3_chr19_14614117_14679844 | 14663502 | T | C | missense_variant | MODERATE | HG03209.hp2 | a0013 | a0013c0031 | a0013c0031t0001 | a0013c0031t0001g0332 | 1 | 372 | 0.0027 | 0 | c.115 others(3): Show |
p.Asn others(5): Show |
ADGRE3 | ENSG00000131355.15 | transcript | ENST00000253673.6 | protein_coding | 3/16 | 189/2349 | 115/1959 | 39/652 | chr19 | TogoVar | ||
ADGRE5_chr19_14376444_14413723 | 14388725 | A | G | missense_variant | MODERATE | HG02698.hp1 | a0009 | a0009c0030 | a0009c0030t0001 | a0009c0030t0001g0152 | 1 | 374 | 0.0027 | 0 | c.97A others(2): Show |
p.Asn others(5): Show |
ADGRE5 | ENSG00000123146.20 | transcript | ENST00000242786.6 | protein_coding | 3/20 | 177/3190 | 97/2508 | 33/835 | chr19 | TogoVar | ||
ADGRE5_chr19_14376444_14413723 | 14388749 | G | A | missense_variant | MODERATE | HG01943.hp1 HG01978.hp2 |
a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0253a0008c0009t0001g0301 | 2 | 374 | 0.0054 | 0 | c.121 others(3): Show |
p.Ala others(5): Show |
ADGRE5 | ENSG00000123146.20 | transcript | ENST00000242786.6 | protein_coding | 3/20 | 201/3190 | 121/2508 | 41/835 | chr19 | TogoVar | ||
ADGRE5_chr19_14376444_14413723 | 14388801 | C | T | missense_variant | MODERATE | HG01884.hp2 HG02280.hp2 HG02809.hp1 others(1): Show |
a0004 | a0004c0008a0004c0029 | a0004c0008t0004a0004c0029t0007 | a0004c0008t0004g0196a0004c0008t0004g0197a0004c0008t0004g0198others(1): Show | 4 | 374 | 0.0107 | 0 | c.173 others(3): Show |
p.Pro others(5): Show |
ADGRE5 | ENSG00000123146.20 | transcript | ENST00000242786.6 | protein_coding | 3/20 | 253/3190 | 173/2508 | 58/835 | chr19 | TogoVar | ||
ADGRE5_chr19_14376444_14413723 | 14388804 | C | T | missense_variant | MODERATE | HG01074.hp2 HG01167.hp2 HG01169.hp2 others(21): Show |
a0003a0006a0010others(1): Show | a0003c0003a0006c0010a0010c0016others(1): Show | a0003c0003t0001a0003c0003t0002a0006c0010t0001others(2): Show | a0003c0003t0001g0009a0003c0003t0001g0016a0003c0003t0001g0017others(21): Show | 24 | 374 | 0.0642 | 0 | c.176 others(3): Show |
p.Thr others(5): Show |
ADGRE5 | ENSG00000123146.20 | transcript | ENST00000242786.6 | protein_coding | 3/20 | 256/3190 | 176/2508 | 59/835 | chr19 | TogoVar | ||
ADGRE5_chr19_14376444_14413723 | 14390950 | A | C | missense_variant | MODERATE | NA18962.hp2 | a0019 | a0019c0028 | a0019c0028t0001 | a0019c0028t0001g0277 | 1 | 374 | 0.0027 | 0 | c.217 others(3): Show |
p.Lys others(5): Show |
ADGRE5 | ENSG00000123146.20 | transcript | ENST00000242786.6 | protein_coding | 4/20 | 297/3190 | 217/2508 | 73/835 | chr19 | TogoVar | ||
ADGRE5_chr19_14376444_14413723 | 14391040 | G | C | missense_variant | MODERATE | HG00735.hp2 | a0018 | a0018c0017 | a0018c0017t0001 | a0018c0017t0001g0215 | 1 | 374 | 0.0027 | 0 | c.307 others(3): Show |
p.Ala others(6): Show |
ADGRE5 | ENSG00000123146.20 | transcript | ENST00000242786.6 | protein_coding | 4/20 | 387/3190 | 307/2508 | 103/835 | chr19 | TogoVar |