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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADGRF4_chr6_47693580_47727014 | 47707278 | C | G | missense_variant | MODERATE | HG01255.hp2 HG03098.hp2 |
a0005 | a0005c0008 | a0005c0008t0006 | a0005c0008t0006g0026 | 2 | 394 | 0.0051 | 0 | c.33C others(2): Show |
p.Cys others(5): Show |
ADGRF4 | ENSG00000153294.12 | transcript | ENST00000283303.3 | protein_coding | 2/10 | 264/3128 | 33/2088 | 11/695 | chr6 | TogoVar | ||
ADGRF4_chr6_47693580_47727014 | 47712520 | C | T | missense_variant | MODERATE | HG01255.hp2 HG03098.hp2 |
a0005 | a0005c0008 | a0005c0008t0006 | a0005c0008t0006g0026 | 2 | 394 | 0.0051 | 0 | c.464 others(3): Show |
p.Thr others(6): Show |
ADGRF4 | ENSG00000153294.12 | transcript | ENST00000283303.3 | protein_coding | 5/10 | 695/3128 | 464/2088 | 155/695 | chr6 | TogoVar | ||
ADGRF4_chr6_47693580_47727014 | 47713828 | G | A | missense_variant | MODERATE | HG03017.hp1 | a0013 | a0013c0009 | a0013c0009t0001 | a0013c0009t0001g0093 | 1 | 394 | 0.0025 | 0 | c.583 others(3): Show |
p.Asp others(6): Show |
ADGRF4 | ENSG00000153294.12 | transcript | ENST00000283303.3 | protein_coding | 6/10 | 814/3128 | 583/2088 | 195/695 | chr6 | TogoVar | ||
ADGRF4_chr6_47693580_47727014 | 47713929 | C | G | missense_variant | MODERATE | HG03831.hp1 | a0012 | a0012c0016 | a0012c0016t0001 | a0012c0016t0001g0099 | 1 | 394 | 0.0025 | 0 | c.684 others(3): Show |
p.His others(6): Show |
ADGRF4 | ENSG00000153294.12 | transcript | ENST00000283303.3 | protein_coding | 6/10 | 915/3128 | 684/2088 | 228/695 | chr6 | TogoVar | ||
ADGRF4_chr6_47693580_47727014 | 47713975 | G | T | missense_variant | MODERATE | HG01358.hp2 HG02056.hp2 NA18943.hp2 others(3): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0005a0003c0004t0001g0061a0003c0004t0001g0113 | 6 | 394 | 0.0152 | 0 | c.730 others(3): Show |
p.Gly others(6): Show |
ADGRF4 | ENSG00000153294.12 | transcript | ENST00000283303.3 | protein_coding | 6/10 | 961/3128 | 730/2088 | 244/695 | chr6 | TogoVar | ||
ADGRF4_chr6_47693580_47727014 | 47713982 | A | G | missense_variant | MODERATE | HG02572.hp2 | a0011 | a0011c0015 | a0011c0015t0004 | a0011c0015t0004g0006 | 1 | 394 | 0.0025 | 0 | c.737 others(3): Show |
p.His others(6): Show |
ADGRF4 | ENSG00000153294.12 | transcript | ENST00000283303.3 | protein_coding | 6/10 | 968/3128 | 737/2088 | 246/695 | chr6 | TogoVar | ||
ADGRF4_chr6_47693580_47727014 | 47714189 | A | G | missense_variant | MODERATE | HG01255.hp2 HG03098.hp2 |
a0005 | a0005c0008 | a0005c0008t0006 | a0005c0008t0006g0026 | 2 | 394 | 0.0051 | 0 | c.944 others(3): Show |
p.Gln others(6): Show |
ADGRF4 | ENSG00000153294.12 | transcript | ENST00000283303.3 | protein_coding | 6/10 | 1175/3128 | 944/2088 | 315/695 | chr6 | TogoVar | ||
ADGRF4_chr6_47693580_47727014 | 47714399 | T | C | missense_variant | MODERATE | HG01255.hp2 HG03098.hp2 |
a0005 | a0005c0008 | a0005c0008t0006 | a0005c0008t0006g0026 | 2 | 394 | 0.0051 | 0 | c.115 others(4): Show |
p.Met others(6): Show |
ADGRF4 | ENSG00000153294.12 | transcript | ENST00000283303.3 | protein_coding | 6/10 | 1385/3128 | 1154/2088 | 385/695 | chr6 | TogoVar | ||
ADGRF4_chr6_47693580_47727014 | 47714422 | T | C | missense_variant | MODERATE | HG01255.hp2 HG03098.hp2 |
a0005 | a0005c0008 | a0005c0008t0006 | a0005c0008t0006g0026 | 2 | 394 | 0.0051 | 0 | c.117 others(4): Show |
p.Ser others(6): Show |
ADGRF4 | ENSG00000153294.12 | transcript | ENST00000283303.3 | protein_coding | 6/10 | 1408/3128 | 1177/2088 | 393/695 | chr6 | TogoVar | ||
ADGRF4_chr6_47693580_47727014 | 47714531 | G | A | missense_variant | MODERATE | HG01255.hp2 HG03098.hp2 |
a0005 | a0005c0008 | a0005c0008t0006 | a0005c0008t0006g0026 | 2 | 394 | 0.0051 | 0 | c.128 others(4): Show |
p.Arg others(6): Show |
ADGRF4 | ENSG00000153294.12 | transcript | ENST00000283303.3 | protein_coding | 6/10 | 1517/3128 | 1286/2088 | 429/695 | chr6 | TogoVar | ||
ADGRF4_chr6_47693580_47727014 | 47714533 | G | A | missense_variant | MODERATE | NA18968.hp2 NA18994.hp2 |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0004 | 2 | 394 | 0.0051 | 0 | c.128 others(4): Show |
p.Val others(6): Show |
ADGRF4 | ENSG00000153294.12 | transcript | ENST00000283303.3 | protein_coding | 6/10 | 1519/3128 | 1288/2088 | 430/695 | chr6 | TogoVar | ||
ADGRF4_chr6_47693580_47727014 | 47714560 | C | T | missense_variant | MODERATE | HG03710.hp2 | a0006 | a0006c0014 | a0006c0014t0001 | a0006c0014t0001g0005 | 1 | 394 | 0.0025 | 0 | c.131 others(4): Show |
p.Arg others(6): Show |
ADGRF4 | ENSG00000153294.12 | transcript | ENST00000283303.3 | protein_coding | 6/10 | 1546/3128 | 1315/2088 | 439/695 | chr6 | TogoVar | ||
ADGRF4_chr6_47693580_47727014 | 47714783 | G | A | missense_variant | MODERATE | NA19043.hp2 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0089 | 1 | 394 | 0.0025 | 0 | c.153 others(4): Show |
p.Arg others(6): Show |
ADGRF4 | ENSG00000153294.12 | transcript | ENST00000283303.3 | protein_coding | 6/10 | 1769/3128 | 1538/2088 | 513/695 | chr6 | TogoVar | ||
ADGRF4_chr6_47693580_47727014 | 47714868 | A | C | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(314): Show |
a0001a0004a0005others(6): Show | a0001c0001a0001c0003a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(105): Show | 317 | 394 | 0.8046 | 0 | c.162 others(4): Show |
p.Lys others(6): Show |
ADGRF4 | ENSG00000153294.12 | transcript | ENST00000283303.3 | protein_coding | 6/10 | 1854/3128 | 1623/2088 | 541/695 | chr6 | TogoVar | ||
ADGRF4_chr6_47693580_47727014 | 47714935 | A | G | missense_variant | MODERATE | HG01255.hp2 HG03098.hp2 |
a0005 | a0005c0008 | a0005c0008t0006 | a0005c0008t0006g0026 | 2 | 394 | 0.0051 | 0 | c.169 others(4): Show |
p.Ile others(6): Show |
ADGRF4 | ENSG00000153294.12 | transcript | ENST00000283303.3 | protein_coding | 6/10 | 1921/3128 | 1690/2088 | 564/695 | chr6 | TogoVar | ||
ADGRF4_chr6_47693580_47727014 | 47714946 | C | G | missense_variant | MODERATE | HG01255.hp2 HG03098.hp2 |
a0005 | a0005c0008 | a0005c0008t0006 | a0005c0008t0006g0026 | 2 | 394 | 0.0051 | 0 | c.170 others(4): Show |
p.Phe others(6): Show |
ADGRF4 | ENSG00000153294.12 | transcript | ENST00000283303.3 | protein_coding | 6/10 | 1932/3128 | 1701/2088 | 567/695 | chr6 | TogoVar | ||
ADGRF4_chr6_47693580_47727014 | 47714968 | A | T | missense_variant | MODERATE | HG04115.hp2 | a0008 | a0008c0013 | a0008c0013t0001 | a0008c0013t0001g0104 | 1 | 394 | 0.0025 | 0 | c.172 others(4): Show |
p.Ile others(6): Show |
ADGRF4 | ENSG00000153294.12 | transcript | ENST00000283303.3 | protein_coding | 6/10 | 1954/3128 | 1723/2088 | 575/695 | chr6 | TogoVar | ||
ADGRF4_chr6_47693580_47727014 | 47715107 | G | C | missense_variant | MODERATE | NA18954.hp2 | a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0079 | 1 | 394 | 0.0025 | 0 | c.186 others(4): Show |
p.Gly others(6): Show |
ADGRF4 | ENSG00000153294.12 | transcript | ENST00000283303.3 | protein_coding | 6/10 | 2093/3128 | 1862/2088 | 621/695 | chr6 | TogoVar | ||
ADGRF4_chr6_47693580_47727014 | 47716837 | T | C | missense_variant | MODERATE | HG01255.hp2 HG03098.hp2 |
a0005 | a0005c0008 | a0005c0008t0006 | a0005c0008t0006g0026 | 2 | 394 | 0.0051 | 0 | c.196 others(4): Show |
p.Met others(6): Show |
ADGRF4 | ENSG00000153294.12 | transcript | ENST00000283303.3 | protein_coding | 7/10 | 2195/3128 | 1964/2088 | 655/695 | chr6 | TogoVar | ||
ADGRF4_chr6_47693580_47727014 | 47718417 | C | G | missense_variant | MODERATE | HG01255.hp2 HG03098.hp2 |
a0005 | a0005c0008 | a0005c0008t0006 | a0005c0008t0006g0026 | 2 | 394 | 0.0051 | 0 | c.206 others(4): Show |
p.Ser others(6): Show |
ADGRF4 | ENSG00000153294.12 | transcript | ENST00000283303.3 | protein_coding | 9/10 | 2294/3128 | 2063/2088 | 688/695 | chr6 | TogoVar | ||
ADGRF4_chr6_47693580_47727014 | 47718431 | C | T | missense_variant | MODERATE | NA18969.hp1 | a0010 | a0010c0012 | a0010c0012t0001 | a0010c0012t0001g0004 | 1 | 394 | 0.0025 | 0 | c.207 others(4): Show |
p.Arg others(6): Show |
ADGRF4 | ENSG00000153294.12 | transcript | ENST00000283303.3 | protein_coding | 9/10 | 2308/3128 | 2077/2088 | 693/695 | chr6 | TogoVar | ||
ADGRF5_chr6_46847522_46926938 | 46856740 | C | T | missense_variant | MODERATE | HG00544.hp1 | a0014 | a0014c0020 | a0014c0020t0001 | a0014c0020t0001g0339 | 1 | 382 | 0.0026 | 0 | c.385 others(4): Show |
p.Arg others(7): Show |
ADGRF5 | ENSG00000069122.19 | transcript | ENST00000283296.12 | protein_coding | 19/21 | 4104/5761 | 3854/4041 | 1285/1346 | chr6 | TogoVar | ||
ADGRF5_chr6_46847522_46926938 | 46859336 | A | G | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(175): Show |
a0001a0005a0006others(7): Show | a0001c0001a0001c0004a0001c0012others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(172): Show | 178 | 382 | 0.4660 | 0 | c.256 others(4): Show |
p.Met others(6): Show |
ADGRF5 | ENSG00000069122.19 | transcript | ENST00000283296.12 | protein_coding | 17/21 | 2817/5761 | 2567/4041 | 856/1346 | chr6 | TogoVar | ||
ADGRF5_chr6_46847522_46926938 | 46859358 | T | C | missense_variant | MODERATE | NA18944.hp1 | a0012 | a0012c0027 | a0012c0027t0002 | a0012c0027t0002g0132 | 1 | 382 | 0.0026 | 0 | c.254 others(4): Show |
p.Thr others(6): Show |
ADGRF5 | ENSG00000069122.19 | transcript | ENST00000283296.12 | protein_coding | 17/21 | 2795/5761 | 2545/4041 | 849/1346 | chr6 | TogoVar | ||
ADGRF5_chr6_46847522_46926938 | 46859466 | C | T | missense_variant | MODERATE | HG01978.hp1 | a0013 | a0013c0030 | a0013c0030t0005 | a0013c0030t0005g0068 | 1 | 382 | 0.0026 | 0 | c.243 others(4): Show |
p.Val others(6): Show |
ADGRF5 | ENSG00000069122.19 | transcript | ENST00000283296.12 | protein_coding | 17/21 | 2687/5761 | 2437/4041 | 813/1346 | chr6 | TogoVar | ||
ADGRF5_chr6_46847522_46926938 | 46859502 | C | T | missense_variant | MODERATE | HG00280.hp1 HG00323.hp1 HG00408.hp2 others(135): Show |
a0002a0008a0009others(2): Show | a0002c0002a0002c0005a0002c0006others(6): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0012others(17): Show | a0002c0002t0002g0101a0002c0002t0002g0102a0002c0002t0002g0106others(135): Show | 138 | 382 | 0.3613 | 0 | c.240 others(4): Show |
p.Val others(6): Show |
ADGRF5 | ENSG00000069122.19 | transcript | ENST00000283296.12 | protein_coding | 17/21 | 2651/5761 | 2401/4041 | 801/1346 | chr6 | TogoVar | ||
ADGRF5_chr6_46847522_46926938 | 46863070 | C | T | missense_variant | MODERATE | NA19078.hp2 | a0011 | a0011c0018 | a0011c0018t0001 | a0011c0018t0001g0152 | 1 | 382 | 0.0026 | 0 | c.201 others(4): Show |
p.Val others(6): Show |
ADGRF5 | ENSG00000069122.19 | transcript | ENST00000283296.12 | protein_coding | 15/21 | 2267/5761 | 2017/4041 | 673/1346 | chr6 | TogoVar | ||
ADGRF5_chr6_46847522_46926938 | 46866948 | G | A | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(323): Show |
a0001a0002a0004others(12): Show | a0001c0001a0001c0004a0001c0012others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(48): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(320): Show | 326 | 382 | 0.8534 | 0 | c.181 others(4): Show |
p.Thr others(6): Show |
ADGRF5 | ENSG00000069122.19 | transcript | ENST00000283296.12 | protein_coding | 13/21 | 2061/5761 | 1811/4041 | 604/1346 | chr6 | TogoVar | ||
ADGRF5_chr6_46847522_46926938 | 46867077 | A | G | missense_variant | MODERATE | HG03239.hp1 | a0016 | a0016c0021 | a0016c0021t0001 | a0016c0021t0001g0156 | 1 | 382 | 0.0026 | 0 | c.168 others(4): Show |
p.Ile others(6): Show |
ADGRF5 | ENSG00000069122.19 | transcript | ENST00000283296.12 | protein_coding | 13/21 | 1932/5761 | 1682/4041 | 561/1346 | chr6 | TogoVar | ||
ADGRF5_chr6_46847522_46926938 | 46871962 | G | A | missense_variant | MODERATE | HG02559.hp2 HG02818.hp1 |
a0010a0017 | a0010c0032a0017c0031 | a0010c0032t0004a0017c0031t0004 | a0010c0032t0004g0200a0017c0031t0004g0198 | 2 | 382 | 0.0052 | 0 | c.129 others(4): Show |
p.Ala others(6): Show |
ADGRF5 | ENSG00000069122.19 | transcript | ENST00000283296.12 | protein_coding | 11/21 | 1542/5761 | 1292/4041 | 431/1346 | chr6 | TogoVar | ||
ADGRF5_chr6_46847522_46926938 | 46871995 | A | C | missense_variant | MODERATE | HG02895.hp1 | a0018 | a0018c0024 | a0018c0024t0002 | a0018c0024t0002g0187 | 1 | 382 | 0.0026 | 0 | c.125 others(4): Show |
p.Ile others(6): Show |
ADGRF5 | ENSG00000069122.19 | transcript | ENST00000283296.12 | protein_coding | 11/21 | 1509/5761 | 1259/4041 | 420/1346 | chr6 | TogoVar | ||
ADGRF5_chr6_46847522_46926938 | 46872008 | G | C | missense_variant | MODERATE | HG02818.hp1 | a0010 | a0010c0032 | a0010c0032t0004 | a0010c0032t0004g0200 | 1 | 382 | 0.0026 | 0 | c.124 others(4): Show |
p.Pro others(6): Show |
ADGRF5 | ENSG00000069122.19 | transcript | ENST00000283296.12 | protein_coding | 11/21 | 1496/5761 | 1246/4041 | 416/1346 | chr6 | TogoVar | ||
ADGRF5_chr6_46847522_46926938 | 46878306 | T | A | missense_variant | MODERATE | HG02602.hp1 homoSapiens_chm13v2.hp1 |
a0005 | a0005c0015 | a0005c0015t0001 | a0005c0015t0001g0216a0005c0015t0001g0233 | 2 | 382 | 0.0052 | 0 | c.113 others(4): Show |
p.Lys others(6): Show |
ADGRF5 | ENSG00000069122.19 | transcript | ENST00000283296.12 | protein_coding | 10/21 | 1386/5761 | 1136/4041 | 379/1346 | chr6 | TogoVar | ||
ADGRF5_chr6_46847522_46926938 | 46879836 | T | C | missense_variant | MODERATE | HG02809.hp1 | a0019 | a0019c0033 | a0019c0033t0014 | a0019c0033t0014g0342 | 1 | 382 | 0.0026 | 0 | c.101 others(4): Show |
p.Ile others(6): Show |
ADGRF5 | ENSG00000069122.19 | transcript | ENST00000283296.12 | protein_coding | 9/21 | 1268/5761 | 1018/4041 | 340/1346 | chr6 | TogoVar | ||
ADGRF5_chr6_46847522_46926938 | 46881517 | A | G | missense_variant | MODERATE | HG02683.hp2 | a0009 | a0009c0023 | a0009c0023t0002 | a0009c0023t0002g0286 | 1 | 382 | 0.0026 | 0 | c.752 others(3): Show |
p.Val others(6): Show |
ADGRF5 | ENSG00000069122.19 | transcript | ENST00000283296.12 | protein_coding | 8/21 | 1002/5761 | 752/4041 | 251/1346 | chr6 | TogoVar | ||
ADGRF5_chr6_46847522_46926938 | 46882092 | C | T | missense_variant | MODERATE | HG02258.hp1 HG02818.hp2 |
a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0170a0006c0010t0001g0193 | 2 | 382 | 0.0052 | 0 | c.628 others(3): Show |
p.Gly others(6): Show |
ADGRF5 | ENSG00000069122.19 | transcript | ENST00000283296.12 | protein_coding | 7/21 | 878/5761 | 628/4041 | 210/1346 | chr6 | TogoVar | ||
ADGRF5_chr6_46847522_46926938 | 46883597 | C | T | missense_variant | MODERATE | HG00738.hp2 | a0020 | a0020c0022 | a0020c0022t0001 | a0020c0022t0001g0301 | 1 | 382 | 0.0026 | 0 | c.574 others(3): Show |
p.Ala others(6): Show |
ADGRF5 | ENSG00000069122.19 | transcript | ENST00000283296.12 | protein_coding | 6/21 | 824/5761 | 574/4041 | 192/1346 | chr6 | TogoVar | ||
ADGRF5_chr6_46847522_46926938 | 46888404 | G | A | missense_variant | MODERATE | HG02004.hp2 | a0008 | a0008c0035 | a0008c0035t0002 | a0008c0035t0002g0183 | 1 | 382 | 0.0026 | 0 | c.259 others(3): Show |
p.Leu others(5): Show |
ADGRF5 | ENSG00000069122.19 | transcript | ENST00000283296.12 | protein_coding | 4/21 | 509/5761 | 259/4041 | 87/1346 | chr6 | TogoVar | ||
ADGRF5_chr6_46847522_46926938 | 46900034 | C | T | missense_variant | MODERATE | HG03491.hp2 | a0007 | a0007c0016 | a0007c0016t0001 | a0007c0016t0001g0201 | 1 | 382 | 0.0026 | 0 | c.152 others(3): Show |
p.Arg others(5): Show |
ADGRF5 | ENSG00000069122.19 | transcript | ENST00000283296.12 | protein_coding | 3/21 | 402/5761 | 152/4041 | 51/1346 | chr6 | TogoVar | ||
ADGRG1_chr16_57623630_57670567 | 57651371 | G | A | missense_variant | MODERATE | NA18906.hp1 | a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0340 | 1 | 448 | 0.0022 | 0 | c.236 others(3): Show |
p.Arg others(5): Show |
ADGRG1 | ENSG00000205336.14 | transcript | ENST00000562631.7 | protein_coding | 3/14 | 444/4257 | 236/2064 | 79/687 | chr16 | TogoVar | ||
ADGRG1_chr16_57623630_57670567 | 57651610 | T | C | missense_variant | MODERATE | NA18960.hp2 | a0012 | a0012c0012 | a0012c0012t0005 | a0012c0012t0005g0166 | 1 | 448 | 0.0022 | 0 | c.475 others(3): Show |
p.Phe others(6): Show |
ADGRG1 | ENSG00000205336.14 | transcript | ENST00000562631.7 | protein_coding | 3/14 | 683/4257 | 475/2064 | 159/687 | chr16 | TogoVar | ||
ADGRG1_chr16_57623630_57670567 | 57655442 | G | A | missense_variant | MODERATE | HG02055.hp2 | a0006 | a0006c0014 | a0006c0014t0013 | a0006c0014t0013g0078 | 1 | 448 | 0.0022 | 0 | c.812 others(3): Show |
p.Arg others(6): Show |
ADGRG1 | ENSG00000205336.14 | transcript | ENST00000562631.7 | protein_coding | 6/14 | 1020/4257 | 812/2064 | 271/687 | chr16 | TogoVar | ||
ADGRG1_chr16_57623630_57670567 | 57655473 | C | G | missense_variant | MODERATE | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(342): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(62): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0007others(315): Show | 345 | 448 | 0.7701 | 0 | c.843 others(3): Show |
p.Ser others(6): Show |
ADGRG1 | ENSG00000205336.14 | transcript | ENST00000562631.7 | protein_coding | 6/14 | 1051/4257 | 843/2064 | 281/687 | chr16 | TogoVar | ||
ADGRG1_chr16_57623630_57670567 | 57655893 | A | C | missense_variant | MODERATE | HG00323.hp1 HG00323.hp2 HG00642.hp2 others(23): Show |
a0003a0010 | a0003c0004a0010c0016 | a0003c0004t0001a0003c0004t0002a0003c0004t0004others(6): Show | a0003c0004t0001g0073a0003c0004t0001g0098a0003c0004t0001g0237others(23): Show | 26 | 448 | 0.0580 | 0 | c.918 others(3): Show |
p.Gln others(6): Show |
ADGRG1 | ENSG00000205336.14 | transcript | ENST00000562631.7 | protein_coding | 7/14 | 1126/4257 | 918/2064 | 306/687 | chr16 | TogoVar | ||
ADGRG1_chr16_57623630_57670567 | 57655991 | C | T | missense_variant others(1): Show |
MODERATE | NA19009.hp1 | a0007 | a0007c0021 | a0007c0021t0003 | a0007c0021t0003g0003 | 1 | 448 | 0.0022 | 0 | c.101 others(4): Show |
p.Pro others(6): Show |
ADGRG1 | ENSG00000205336.14 | transcript | ENST00000562631.7 | protein_coding | 7/14 | 1224/4257 | 1016/2064 | 339/687 | chr16 | TogoVar | ||
ADGRG1_chr16_57623630_57670567 | 57657475 | G | A | missense_variant | MODERATE | HG00280.hp1 | a0011 | a0011c0015 | a0011c0015t0001 | a0011c0015t0001g0176 | 1 | 448 | 0.0022 | 0 | c.127 others(4): Show |
p.Ala others(6): Show |
ADGRG1 | ENSG00000205336.14 | transcript | ENST00000562631.7 | protein_coding | 10/14 | 1478/4257 | 1270/2064 | 424/687 | chr16 | TogoVar | ||
ADGRG1_chr16_57623630_57670567 | 57659449 | G | T | missense_variant | MODERATE | NA20752.hp1 | a0008 | a0008c0019 | a0008c0019t0005 | a0008c0019t0005g0282 | 1 | 448 | 0.0022 | 0 | c.132 others(4): Show |
p.Met others(6): Show |
ADGRG1 | ENSG00000205336.14 | transcript | ENST00000562631.7 | protein_coding | 11/14 | 1531/4257 | 1323/2064 | 441/687 | chr16 | TogoVar | ||
ADGRG1_chr16_57623630_57670567 | 57659586 | T | C | missense_variant | MODERATE | HG01928.hp1 HG01934.hp1 HG02004.hp2 others(1): Show |
a0004 | a0004c0008 | a0004c0008t0001a0004c0008t0008 | a0004c0008t0001g0307a0004c0008t0008g0009a0004c0008t0008g0236 | 4 | 448 | 0.0089 | 0 | c.146 others(4): Show |
p.Met others(6): Show |
ADGRG1 | ENSG00000205336.14 | transcript | ENST00000562631.7 | protein_coding | 11/14 | 1668/4257 | 1460/2064 | 487/687 | chr16 | TogoVar | ||
ADGRG1_chr16_57623630_57670567 | 57663509 | C | T | missense_variant | MODERATE | HG02723.hp2 | a0009 | a0009c0018 | a0009c0018t0013 | a0009c0018t0013g0283 | 1 | 448 | 0.0022 | 0 | c.199 others(4): Show |
p.Ser others(6): Show |
ADGRG1 | ENSG00000205336.14 | transcript | ENST00000562631.7 | protein_coding | 14/14 | 2199/4257 | 1991/2064 | 664/687 | chr16 | TogoVar | ||
ADGRG2_chrX_18984307_19127468 | 18999879 | T | C | missense_variant | MODERATE | NA18956.hp1 NA19003.hp2 |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0118a0005c0005t0001g0162 | 2 | 188 | 0.0106 | 0 | c.231 others(4): Show |
p.Asn others(6): Show |
ADGRG2 | ENSG00000173698.18 | transcript | ENST00000379869.8 | protein_coding | 25/29 | 2385/4684 | 2312/3054 | 771/1017 | chrX | TogoVar |