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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGAP9_chr10_47496854_47528638 | 47522888 | G | T | missense_variant | MODERATE | HG02698.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0016 | 1 | 204 | 0.0049 | 0 | c.270 others(3): Show |
p.Phe others(5): Show |
AGAP9 | ENSG00000204172.12 | transcript | ENST00000452145.6 | protein_coding | 2/8 | 382/2387 | 270/1977 | 90/658 | chr10 | TogoVar | |||
AGAP9_chr10_47496854_47528638 | 47523329 | C | G | missense_variant | MODERATE | HG02572.hp2 HG02602.hp2 NA18987.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0070 |
3 | 204 | 0.0147 | 0 | c.198 others(3): Show |
p.Gln others(5): Show |
AGAP9 | ENSG00000204172.12 | transcript | ENST00000452145.6 | protein_coding | 1/8 | 310/2387 | 198/1977 | 66/658 | chr10 | TogoVar | |||
AGAP9_chr10_47496854_47528638 | 47523435 | A | G | missense_variant | MODERATE | HG02602.hp2 NA20805.hp2 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0066 a0001c0001t0001g0070 |
3 | 204 | 0.0147 | 0 | c.92T others(2): Show |
p.Ile others(5): Show |
AGAP9 | ENSG00000204172.12 | transcript | ENST00000452145.6 | protein_coding | 1/8 | 204/2387 | 92/1977 | 31/658 | chr10 | TogoVar | |||
AGA_chr4_177425774_177447437 | 177431763 | A | G | missense_variant | MODERATE | HG02109.hp1 | a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0139 | 1 | 440 | 0.0023 | 0 | c.986 others(3): Show |
p.Met others(6): Show |
AGA | ENSG00000038002.9 | transcript | ENST00000264595.7 | protein_coding | 9/9 | 1048/2037 | 986/1041 | 329/346 | chr4 | TogoVar | |||
AGA_chr4_177425774_177447437 | 177431784 | G | A | missense_variant | MODERATE | HG02109.hp1 NA19240.hp1 |
a0005a0007 | a0005c0007a0007c0008 | a0005c0007t0002a0007c0008t0002 | a0005c0007t0002g0139 a0007c0008t0002g0140 |
2 | 440 | 0.0045 | 0 | c.965 others(3): Show |
p.Thr others(6): Show |
AGA | ENSG00000038002.9 | transcript | ENST00000264595.7 | protein_coding | 9/9 | 1027/2037 | 965/1041 | 322/346 | chr4 | TogoVar | |||
AGA_chr4_177425774_177447437 | 177433252 | A | G | missense_variant | MODERATE | HG03195.hp1 HG03209.hp2 HG03486.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0053 a0003c0003t0001g0118 a0003c0003t0001g0128 |
4 | 440 | 0.0091 | 0 | c.902 others(3): Show |
p.Phe others(6): Show |
AGA | ENSG00000038002.9 | transcript | ENST00000264595.7 | protein_coding | 8/9 | 964/2037 | 902/1041 | 301/346 | chr4 | TogoVar | |||
AGA_chr4_177425774_177447437 | 177434396 | C | T | missense_variant | MODERATE | HG02615.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0124 | 1 | 440 | 0.0023 | 0 | c.792 others(3): Show |
p.Met others(6): Show |
AGA | ENSG00000038002.9 | transcript | ENST00000264595.7 | protein_coding | 7/9 | 854/2037 | 792/1041 | 264/346 | chr4 | TogoVar | |||
AGA_chr4_177425774_177447437 | 177438806 | G | C | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(413): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0005a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(144): Show |
416 | 440 | 0.9455 | 0 | c.446 others(3): Show |
p.Thr others(6): Show |
AGA | ENSG00000038002.9 | transcript | ENST00000264595.7 | protein_coding | 4/9 | 508/2037 | 446/1041 | 149/346 | chr4 | TogoVar | |||
AGA_chr4_177425774_177447437 | 177442342 | C | A | missense_variant | MODERATE | HG00733.hp1 HG01099.hp1 HG01167.hp1 |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0034 | 3 | 440 | 0.0068 | 0 | c.34G others(2): Show |
p.Val others(5): Show |
AGA | ENSG00000038002.9 | transcript | ENST00000264595.7 | protein_coding | 1/9 | 96/2037 | 34/1041 | 12/346 | chr4 | TogoVar | |||
AGBL1_chr15_86074871_86921156 | 86142041 | A | C | missense_variant | MODERATE | HG00738.hp1 | a0012 | a0012c0049 | a0012c0049t0048 | a0012c0049t0048g0013 | 1 | 132 | 0.0076 | 0 | c.89A others(2): Show |
p.Lys others(5): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 2/23 | 191/12330 | 89/3366 | 30/1121 | chr15 | TogoVar | |||
AGBL1_chr15_86074871_86921156 | 86143818 | C | T | missense_variant | MODERATE | NA18994.hp1 | a0020 | a0020c0048 | a0020c0048t0002 | a0020c0048t0002g0029 | 1 | 132 | 0.0076 | 0 | c.235 others(3): Show |
p.Arg others(5): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 3/23 | 337/12330 | 235/3366 | 79/1121 | chr15 | TogoVar | |||
AGBL1_chr15_86074871_86921156 | 86154444 | C | T | missense_variant | MODERATE | HG00735.hp2 | a0011 | a0011c0061 | a0011c0061t0001 | a0011c0061t0001g0066 | 1 | 132 | 0.0076 | 0 | c.277 others(3): Show |
p.Arg others(5): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 4/23 | 379/12330 | 277/3366 | 93/1121 | chr15 | TogoVar | |||
AGBL1_chr15_86074871_86921156 | 86159010 | C | T | missense_variant | MODERATE | HG02735.hp2 HG04204.hp1 |
a0016a0019 | a0016c0047a0019c0046 | a0016c0047t0004a0019c0046t0046 | a0016c0047t0004g0087 a0019c0046t0046g0032 |
2 | 132 | 0.0152 | 0 | c.472 others(3): Show |
p.Arg others(6): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 5/23 | 574/12330 | 472/3366 | 158/1121 | chr15 | TogoVar | |||
AGBL1_chr15_86074871_86921156 | 86256853 | A | G | missense_variant others(1): Show |
MODERATE | HG02735.hp2 | a0016 | a0016c0047 | a0016c0047t0004 | a0016c0047t0004g0087 | 1 | 132 | 0.0076 | 0 | c.736 others(3): Show |
p.Asn others(6): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 8/23 | 838/12330 | 736/3366 | 246/1121 | chr15 | TogoVar | |||
AGBL1_chr15_86074871_86921156 | 86256923 | C | T | missense_variant | MODERATE | HG01346.hp1 | a0014 | a0014c0045 | a0014c0045t0001 | a0014c0045t0001g0086 | 1 | 132 | 0.0076 | 0 | c.806 others(3): Show |
p.Pro others(6): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 8/23 | 908/12330 | 806/3366 | 269/1121 | chr15 | TogoVar | |||
AGBL1_chr15_86074871_86921156 | 86264523 | C | A | missense_variant | MODERATE | NA19043.hp2 | a0022 | a0022c0027 | a0022c0027t0032 | a0022c0027t0032g0116 | 1 | 132 | 0.0076 | 0 | c.135 others(4): Show |
p.Ser others(6): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 11/23 | 1454/12330 | 1352/3366 | 451/1121 | chr15 | TogoVar | |||
AGBL1_chr15_86074871_86921156 | 86264559 | C | T | missense_variant | MODERATE | HG02055.hp2 HG02280.hp2 HG02451.hp2 others(6): Show |
a0004a0007 | a0004c0009a0004c0020a0004c0031others(1): Show | a0004c0009t0003a0004c0009t0017a0004c0009t0049others(6): Show | a0004c0009t0003g0095 a0004c0009t0017g0008 a0004c0009t0049g0071 others(6): Show |
9 | 132 | 0.0682 | 0 | c.138 others(4): Show |
p.Pro others(6): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 11/23 | 1490/12330 | 1388/3366 | 463/1121 | chr15 | TogoVar | |||
AGBL1_chr15_86074871_86921156 | 86264612 | T | C | missense_variant | MODERATE | HG00735.hp2 HG00738.hp1 HG01074.hp2 others(14): Show |
a0002a0011a0012others(3): Show | a0002c0005a0002c0018a0002c0021others(7): Show | a0002c0005t0006a0002c0005t0024a0002c0005t0050others(14): Show | a0002c0005t0006g0107 a0002c0005t0024g0039 a0002c0005t0050g0037 others(14): Show |
17 | 132 | 0.1288 | 0 | c.144 others(4): Show |
p.Ser others(6): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 11/23 | 1543/12330 | 1441/3366 | 481/1121 | chr15 | TogoVar | |||
AGBL1_chr15_86074871_86921156 | 86279673 | G | A | missense_variant | MODERATE | HG02615.hp2 HG02647.hp1 |
a0008 | a0008c0017 | a0008c0017t0012a0008c0017t0059 | a0008c0017t0012g0090 a0008c0017t0059g0070 |
2 | 132 | 0.0152 | 0 | c.211 others(4): Show |
p.Gly others(6): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 16/23 | 2212/12330 | 2110/3366 | 704/1121 | chr15 | TogoVar | |||
AGBL1_chr15_86074871_86921156 | 86279695 | A | G | missense_variant | MODERATE | HG03098.hp1 HG03540.hp2 HG06807.hp2 |
a0010a0018 | a0010c0014a0018c0025 | a0010c0014t0054a0010c0014t0064a0018c0025t0065 | a0010c0014t0054g0021 a0010c0014t0064g0040 a0018c0025t0065g0022 |
3 | 132 | 0.0227 | 0 | c.213 others(4): Show |
p.Tyr others(6): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 16/23 | 2234/12330 | 2132/3366 | 711/1121 | chr15 | TogoVar | |||
AGBL1_chr15_86074871_86921156 | 86397414 | G | C | missense_variant | MODERATE | NA19043.hp1 | a0021 | a0021c0038 | a0021c0038t0013 | a0021c0038t0013g0091 | 1 | 132 | 0.0076 | 0 | c.242 others(4): Show |
p.Ser others(6): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 18/23 | 2525/12330 | 2423/3366 | 808/1121 | chr15 | TogoVar | |||
AGBL1_chr15_86074871_86921156 | 86522937 | G | A | missense_variant others(1): Show |
MODERATE | HG01192.hp1 HG02895.hp1 HG02976.hp1 |
a0009a0013 | a0009c0033a0009c0039a0013c0043 | a0009c0033t0006a0009c0039t0023a0013c0043t0001 | a0009c0033t0006g0112 a0009c0039t0023g0020 a0013c0043t0001g0121 |
3 | 132 | 0.0227 | 0 | c.268 others(4): Show |
p.Val others(6): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 19/23 | 2785/12330 | 2683/3366 | 895/1121 | chr15 | TogoVar | |||
AGBL1_chr15_86074871_86921156 | 86674382 | A | G | missense_variant | MODERATE | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(114): Show |
a0001a0002a0004others(14): Show | a0001c0001a0001c0002a0001c0003others(46): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(102): Show | a0001c0001t0001g0083 a0001c0001t0001g0097 a0001c0001t0001g0101 others(114): Show |
117 | 132 | 0.8864 | 0 | c.310 others(4): Show |
p.Gln others(7): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 22/23 | 3206/12330 | 3104/3366 | 1035/1121 | chr15 | TogoVar | |||
AGBL1_chr15_86074871_86921156 | 86907094 | A | C | missense_variant | MODERATE | HG01346.hp2 HG02559.hp1 HG02976.hp2 others(1): Show |
a0006a0015a0018 | a0006c0030a0006c0058a0015c0054others(1): Show | a0006c0030t0010a0006c0058t0010a0015c0054t0010others(1): Show | a0006c0030t0010g0002 a0006c0058t0010g0053 a0015c0054t0010g0061 others(1): Show |
4 | 132 | 0.0303 | 0 | c.316 others(4): Show |
p.Ser others(7): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 23/23 | 3268/12330 | 3166/3366 | 1056/1121 | chr15 | TogoVar | |||
AGBL1_chr15_86074871_86921156 | 86907152 | T | C | missense_variant | MODERATE | HG01258.hp2 HG03834.hp1 |
a0005 | a0005c0035a0005c0037 | a0005c0035t0007a0005c0037t0004 | a0005c0035t0007g0045 a0005c0037t0004g0043 |
2 | 132 | 0.0152 | 0 | c.322 others(4): Show |
p.Ile others(7): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 23/23 | 3326/12330 | 3224/3366 | 1075/1121 | chr15 | TogoVar | |||
AGBL2_chr11_47654591_47720369 | 47660227 | T | A | missense_variant | MODERATE | HG06807.hp2 | a0012 | a0012c0012 | a0012c0012t0001 | a0012c0012t0001g0324 | 1 | 354 | 0.0028 | 0 | c.265 others(4): Show |
p.Arg others(6): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 19/19 | 2950/3586 | 2655/2709 | 885/902 | chr11 | TogoVar | |||
AGBL2_chr11_47654591_47720369 | 47679976 | C | A | missense_variant | MODERATE | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(218): Show |
a0001a0004a0005others(6): Show | a0001c0001a0004c0005a0005c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0044 a0001c0001t0001g0064 a0001c0001t0001g0123 others(218): Show |
221 | 354 | 0.6243 | 0 | c.201 others(4): Show |
p.Met others(6): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 13/19 | 2308/3586 | 2013/2709 | 671/902 | chr11 | TogoVar | |||
AGBL2_chr11_47654591_47720369 | 47690172 | C | A | missense_variant | MODERATE | HG02148.hp2 | a0008 | a0008c0014 | a0008c0014t0001 | a0008c0014t0001g0223 | 1 | 354 | 0.0028 | 0 | c.153 others(4): Show |
p.Arg others(6): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 10/19 | 1830/3586 | 1535/2709 | 512/902 | chr11 | TogoVar | |||
AGBL2_chr11_47654591_47720369 | 47690268 | A | G | missense_variant | MODERATE | HG00609.hp1 NA18977.hp1 NA20752.hp2 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0273 a0004c0005t0001g0303 a0004c0005t0001g0306 |
3 | 354 | 0.0085 | 0 | c.143 others(4): Show |
p.Leu others(6): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 10/19 | 1734/3586 | 1439/2709 | 480/902 | chr11 | TogoVar | |||
AGBL2_chr11_47654591_47720369 | 47690332 | C | A | missense_variant | MODERATE | HG03471.hp1 | a0011 | a0011c0015 | a0011c0015t0001 | a0011c0015t0001g0342 | 1 | 354 | 0.0028 | 0 | c.137 others(4): Show |
p.Ala others(6): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 10/19 | 1670/3586 | 1375/2709 | 459/902 | chr11 | TogoVar | |||
AGBL2_chr11_47654591_47720369 | 47690607 | G | A | missense_variant | MODERATE | NA18747.hp1 | a0013 | a0013c0016 | a0013c0016t0001 | a0013c0016t0001g0171 | 1 | 354 | 0.0028 | 0 | c.110 others(4): Show |
p.Thr others(6): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 10/19 | 1395/3586 | 1100/2709 | 367/902 | chr11 | TogoVar | |||
AGBL2_chr11_47654591_47720369 | 47690661 | C | T | missense_variant | MODERATE | HG00099.hp2 HG00639.hp2 HG00735.hp1 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0096 a0003c0003t0002g0097 a0003c0003t0002g0109 others(4): Show |
7 | 354 | 0.0198 | 0 | c.104 others(4): Show |
p.Arg others(6): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 10/19 | 1341/3586 | 1046/2709 | 349/902 | chr11 | TogoVar | |||
AGBL2_chr11_47654591_47720369 | 47699497 | G | A | missense_variant | MODERATE | NA18941.hp1 NA18970.hp1 NA19007.hp2 |
a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0292 a0006c0006t0001g0304 a0006c0006t0001g0305 |
3 | 354 | 0.0085 | 0 | c.643 others(3): Show |
p.Pro others(6): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 8/19 | 938/3586 | 643/2709 | 215/902 | chr11 | TogoVar | |||
AGBL2_chr11_47654591_47720369 | 47704575 | C | T | missense_variant | MODERATE | HG02572.hp2 | a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0211 | 1 | 354 | 0.0028 | 0 | c.554 others(3): Show |
p.Cys others(6): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 7/19 | 849/3586 | 554/2709 | 185/902 | chr11 | TogoVar | |||
AGBL2_chr11_47654591_47720369 | 47704602 | A | C | missense_variant | MODERATE | HG02723.hp2 HG03130.hp2 HG03486.hp2 |
a0005 | a0005c0004 | a0005c0004t0002 | a0005c0004t0002g0345 a0005c0004t0002g0346 a0005c0004t0002g0347 |
3 | 354 | 0.0085 | 0 | c.527 others(3): Show |
p.Leu others(6): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 7/19 | 822/3586 | 527/2709 | 176/902 | chr11 | TogoVar | |||
AGBL2_chr11_47654591_47720369 | 47705538 | C | T | missense_variant | MODERATE | HG02965.hp1 | a0010 | a0010c0010 | a0010c0010t0001 | a0010c0010t0001g0002 | 1 | 354 | 0.0028 | 0 | c.383 others(3): Show |
p.Arg others(6): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 6/19 | 678/3586 | 383/2709 | 128/902 | chr11 | TogoVar | |||
AGBL2_chr11_47654591_47720369 | 47710389 | C | G | missense_variant | MODERATE | HG02258.hp2 HG02970.hp1 |
a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0125 a0007c0007t0001g0126 |
2 | 354 | 0.0056 | 0 | c.220 others(3): Show |
p.Glu others(5): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 4/19 | 515/3586 | 220/2709 | 74/902 | chr11 | TogoVar | |||
AGBL3_chr7_134981508_135140778 | 134987995 | C | T | missense_variant others(1): Show |
MODERATE | HG02647.hp1 | a0010 | a0010c0020 | a0010c0020t0001 | a0010c0020t0001g0157 | 1 | 318 | 0.0031 | 0 | c.62C others(2): Show |
p.Ser others(5): Show |
AGBL3 | ENSG00000146856.14 | transcript | ENST00000436302.6 | protein_coding | 2/17 | 315/3533 | 62/2763 | 21/920 | chr7 | TogoVar | |||
AGBL3_chr7_134981508_135140778 | 134993499 | C | G | missense_variant | MODERATE | HG02109.hp1 | a0008 | a0008c0019 | a0008c0019t0009 | a0008c0019t0009g0120 | 1 | 318 | 0.0031 | 0 | c.131 others(3): Show |
p.Ser others(5): Show |
AGBL3 | ENSG00000146856.14 | transcript | ENST00000436302.6 | protein_coding | 4/17 | 384/3533 | 131/2763 | 44/920 | chr7 | TogoVar | |||
AGBL3_chr7_134981508_135140778 | 134993502 | T | A | missense_variant | MODERATE | HG00280.hp2 HG00639.hp1 HG00639.hp2 others(48): Show |
a0002a0009a0011others(1): Show | a0002c0002a0002c0011a0009c0010others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(6): Show | a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0059 others(47): Show |
51 | 318 | 0.1604 | 0 | c.134 others(3): Show |
p.Phe others(5): Show |
AGBL3 | ENSG00000146856.14 | transcript | ENST00000436302.6 | protein_coding | 4/17 | 387/3533 | 134/2763 | 45/920 | chr7 | TogoVar | |||
AGBL3_chr7_134981508_135140778 | 134993522 | C | T | missense_variant | MODERATE | HG01070.hp1 HG01257.hp1 HG01258.hp2 others(8): Show |
a0004 | a0004c0005 | a0004c0005t0001a0004c0005t0002 | a0004c0005t0001g0006 a0004c0005t0001g0132 a0004c0005t0001g0154 others(7): Show |
11 | 318 | 0.0346 | 0 | c.154 others(3): Show |
p.Arg others(5): Show |
AGBL3 | ENSG00000146856.14 | transcript | ENST00000436302.6 | protein_coding | 4/17 | 407/3533 | 154/2763 | 52/920 | chr7 | TogoVar | |||
AGBL3_chr7_134981508_135140778 | 135017105 | G | C | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(268): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0006a0001c0008others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(258): Show |
271 | 318 | 0.8522 | 0 | c.364 others(3): Show |
p.Glu others(6): Show |
AGBL3 | ENSG00000146856.14 | transcript | ENST00000436302.6 | protein_coding | 5/17 | 617/3533 | 364/2763 | 122/920 | chr7 | TogoVar | |||
AGBL3_chr7_134981508_135140778 | 135034652 | G | A | missense_variant | MODERATE | NA19086.hp1 | a0013 | a0013c0009 | a0013c0009t0002 | a0013c0009t0002g0022 | 1 | 318 | 0.0031 | 0 | c.106 others(4): Show |
p.Arg others(6): Show |
AGBL3 | ENSG00000146856.14 | transcript | ENST00000436302.6 | protein_coding | 7/17 | 1314/3533 | 1061/2763 | 354/920 | chr7 | TogoVar | |||
AGBL3_chr7_134981508_135140778 | 135034849 | C | T | missense_variant | MODERATE | HG06807.hp2 | a0005 | a0005c0017 | a0005c0017t0001 | a0005c0017t0001g0306 | 1 | 318 | 0.0031 | 0 | c.125 others(4): Show |
p.Arg others(6): Show |
AGBL3 | ENSG00000146856.14 | transcript | ENST00000436302.6 | protein_coding | 7/17 | 1511/3533 | 1258/2763 | 420/920 | chr7 | TogoVar | |||
AGBL3_chr7_134981508_135140778 | 135034850 | G | A | missense_variant | MODERATE | HG00099.hp1 | a0005 | a0005c0014 | a0005c0014t0003 | a0005c0014t0003g0231 | 1 | 318 | 0.0031 | 0 | c.125 others(4): Show |
p.Arg others(6): Show |
AGBL3 | ENSG00000146856.14 | transcript | ENST00000436302.6 | protein_coding | 7/17 | 1512/3533 | 1259/2763 | 420/920 | chr7 | TogoVar | |||
AGBL3_chr7_134981508_135140778 | 135045501 | C | T | missense_variant | MODERATE | HG01358.hp2 HG01884.hp1 |
a0006 | a0006c0016a0006c0018 | a0006c0016t0003a0006c0018t0003 | a0006c0016t0003g0211 a0006c0018t0003g0205 |
2 | 318 | 0.0063 | 0 | c.165 others(4): Show |
p.Thr others(6): Show |
AGBL3 | ENSG00000146856.14 | transcript | ENST00000436302.6 | protein_coding | 10/17 | 1908/3533 | 1655/2763 | 552/920 | chr7 | TogoVar | |||
AGBL3_chr7_134981508_135140778 | 135045566 | C | T | missense_variant | MODERATE | HG03453.hp1 | a0011 | a0011c0012 | a0011c0012t0001 | a0011c0012t0001g0278 | 1 | 318 | 0.0031 | 0 | c.172 others(4): Show |
p.Arg others(6): Show |
AGBL3 | ENSG00000146856.14 | transcript | ENST00000436302.6 | protein_coding | 10/17 | 1973/3533 | 1720/2763 | 574/920 | chr7 | TogoVar | |||
AGBL3_chr7_134981508_135140778 | 135045811 | C | G | missense_variant | MODERATE | HG04228.hp1 | a0012 | a0012c0015 | a0012c0015t0001 | a0012c0015t0001g0158 | 1 | 318 | 0.0031 | 0 | c.174 others(4): Show |
p.Leu others(6): Show |
AGBL3 | ENSG00000146856.14 | transcript | ENST00000436302.6 | protein_coding | 11/17 | 1994/3533 | 1741/2763 | 581/920 | chr7 | TogoVar | |||
AGBL3_chr7_134981508_135140778 | 135081749 | T | C | missense_variant | MODERATE | HG01884.hp2 HG03098.hp1 |
a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0247 a0007c0007t0001g0248 |
2 | 318 | 0.0063 | 0 | c.206 others(4): Show |
p.Met others(6): Show |
AGBL3 | ENSG00000146856.14 | transcript | ENST00000436302.6 | protein_coding | 15/17 | 2322/3533 | 2069/2763 | 690/920 | chr7 | TogoVar | |||
AGBL3_chr7_134981508_135140778 | 135115539 | G | C | missense_variant | MODERATE | HG02258.hp2 | a0009 | a0009c0010 | a0009c0010t0006 | a0009c0010t0006g0061 | 1 | 318 | 0.0031 | 0 | c.227 others(4): Show |
p.Ser others(6): Show |
AGBL3 | ENSG00000146856.14 | transcript | ENST00000436302.6 | protein_coding | 16/17 | 2523/3533 | 2270/2763 | 757/920 | chr7 | TogoVar |