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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADGRD1_chr12_130948907_131146469 | 131014239 | G | A | missense_variant | MODERATE | HG02723.hp2 | a0008 | a0008c0026 | a0008c0026t0013 | a0008c0026t0013g0238 | 1 | 240 | 0.0042 | 0 | c.137 others(4): Show |
p.Ala others(6): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 13/25 | 1931/5390 | 1372/2625 | 458/874 | chr12 | TogoVar | |||
ADGRD1_chr12_130948907_131146469 | 131014257 | T | G | missense_variant | MODERATE | HG02257.hp2 HG02965.hp1 HG02965.hp2 others(4): Show |
a0003 | a0003c0018a0003c0027a0003c0028others(3): Show | a0003c0018t0020a0003c0027t0001a0003c0028t0001others(3): Show | a0003c0018t0020g0123 a0003c0018t0020g0124 a0003c0027t0001g0180 others(4): Show |
7 | 240 | 0.0292 | 0 | c.139 others(4): Show |
p.Ser others(6): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 13/25 | 1949/5390 | 1390/2625 | 464/874 | chr12 | TogoVar | |||
ADGRD1_chr12_130948907_131146469 | 131076849 | G | A | missense_variant | MODERATE | HG02109.hp2 HG02258.hp1 HG02486.hp1 others(6): Show |
a0002a0007a0009 | a0002c0012a0002c0031a0002c0032others(5): Show | a0002c0012t0017a0002c0031t0003a0002c0032t0038others(5): Show | a0002c0012t0017g0017 a0002c0012t0017g0159 a0002c0031t0003g0089 others(6): Show |
9 | 240 | 0.0375 | 0 | c.152 others(4): Show |
p.Val others(6): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 14/25 | 2081/5390 | 1522/2625 | 508/874 | chr12 | TogoVar | |||
ADGRD1_chr12_130948907_131146469 | 131084560 | C | T | missense_variant | MODERATE | HG00639.hp2 HG01074.hp2 HG01243.hp2 others(1): Show |
a0004 | a0004c0015a0004c0016 | a0004c0015t0003a0004c0015t0005a0004c0016t0002others(1): Show | a0004c0015t0003g0052 a0004c0015t0005g0086 a0004c0016t0002g0065 others(1): Show |
4 | 240 | 0.0167 | 0 | c.156 others(4): Show |
p.Ser others(6): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 15/25 | 2127/5390 | 1568/2625 | 523/874 | chr12 | TogoVar | |||
ADGRD1_chr12_130948907_131146469 | 131105848 | C | T | missense_variant | MODERATE | HG03486.hp2 | a0010 | a0010c0034 | a0010c0034t0026 | a0010c0034t0026g0043 | 1 | 240 | 0.0042 | 0 | c.187 others(4): Show |
p.Arg others(6): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 17/25 | 2429/5390 | 1870/2625 | 624/874 | chr12 | TogoVar | |||
ADGRD1_chr12_130948907_131146469 | 131136098 | G | A | missense_variant | MODERATE | HG00738.hp2 | a0006 | a0006c0035 | a0006c0035t0047 | a0006c0035t0047g0219 | 1 | 240 | 0.0042 | 0 | c.232 others(4): Show |
p.Val others(6): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 22/25 | 2888/5390 | 2329/2625 | 777/874 | chr12 | TogoVar | |||
ADGRD1_chr12_130948907_131146469 | 131139241 | G | A | missense_variant | MODERATE | HG03225.hp1 | a0009 | a0009c0039 | a0009c0039t0001 | a0009c0039t0001g0229 | 1 | 240 | 0.0042 | 0 | c.260 others(4): Show |
p.Arg others(6): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 25/25 | 3162/5390 | 2603/2625 | 868/874 | chr12 | TogoVar | |||
ADGRD2_chr9_124445451_124483580 | 124452624 | T | G | missense_variant | MODERATE | NA20905.hp2 | a0062 | a0062c0041 | a0062c0041t0001 | a0062c0041t0001g0162 | 1 | 402 | 0.0025 | 0 | c.215 others(3): Show |
p.Leu others(5): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 5/25 | 463/3515 | 215/2949 | 72/982 | chr9 | TogoVar | |||
ADGRD2_chr9_124445451_124483580 | 124452630 | T | A | missense_variant | MODERATE | NA19068.hp1 | a0057 | a0057c0042 | a0057c0042t0002 | a0057c0042t0002g0074 | 1 | 402 | 0.0025 | 0 | c.221 others(3): Show |
p.Leu others(5): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 5/25 | 469/3515 | 221/2949 | 74/982 | chr9 | TogoVar | |||
ADGRD2_chr9_124445451_124483580 | 124453065 | A | G | missense_variant | MODERATE | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(315): Show |
a0001a0003a0004others(45): Show | a0001c0001a0001c0005a0001c0014others(73): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(92): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(266): Show |
318 | 402 | 0.7910 | 0 | c.344 others(3): Show |
p.Asp others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 6/25 | 592/3515 | 344/2949 | 115/982 | chr9 | TogoVar | |||
ADGRD2_chr9_124445451_124483580 | 124453151 | G | C | missense_variant | MODERATE | HG01099.hp2 | a0028 | a0028c0068 | a0028c0068t0002 | a0028c0068t0002g0160 | 1 | 402 | 0.0025 | 0 | c.430 others(3): Show |
p.Asp others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 6/25 | 678/3515 | 430/2949 | 144/982 | chr9 | TogoVar | |||
ADGRD2_chr9_124445451_124483580 | 124453392 | C | A | missense_variant | MODERATE | HG02165.hp2 | a0036 | a0036c0070 | a0036c0070t0002 | a0036c0070t0002g0095 | 1 | 402 | 0.0025 | 0 | c.671 others(3): Show |
p.Ala others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 6/25 | 919/3515 | 671/2949 | 224/982 | chr9 | TogoVar | |||
ADGRD2_chr9_124445451_124483580 | 124453493 | C | G | missense_variant | MODERATE | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(195): Show |
a0001a0003a0012others(19): Show | a0001c0001a0001c0005a0001c0014others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(166): Show |
198 | 402 | 0.4925 | 0 | c.772 others(3): Show |
p.His others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 6/25 | 1020/3515 | 772/2949 | 258/982 | chr9 | TogoVar | |||
ADGRD2_chr9_124445451_124483580 | 124453499 | C | T | missense_variant | MODERATE | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(320): Show |
a0001a0003a0004others(47): Show | a0001c0001a0001c0005a0001c0014others(77): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(96): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(270): Show |
323 | 402 | 0.8035 | 0 | c.778 others(3): Show |
p.Leu others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 6/25 | 1026/3515 | 778/2949 | 260/982 | chr9 | TogoVar | |||
ADGRD2_chr9_124445451_124483580 | 124454996 | G | A | missense_variant | MODERATE | HG01099.hp2 HG02257.hp1 HG02922.hp1 |
a0028a0037a0043 | a0028c0068a0037c0047a0043c0088 | a0028c0068t0002a0037c0047t0002a0043c0088t0001 | a0028c0068t0002g0160 a0037c0047t0002g0159 a0043c0088t0001g0217 |
3 | 402 | 0.0075 | 0 | c.129 others(4): Show |
p.Val others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 9/25 | 1542/3515 | 1294/2949 | 432/982 | chr9 | TogoVar | |||
ADGRD2_chr9_124445451_124483580 | 124455123 | G | T | missense_variant | MODERATE | HG03017.hp2 NA20905.hp2 |
a0045a0062 | a0045c0059a0062c0041 | a0045c0059t0001a0062c0041t0001 | a0045c0059t0001g0147 a0062c0041t0001g0162 |
2 | 402 | 0.0050 | 0 | c.142 others(4): Show |
p.Arg others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 9/25 | 1669/3515 | 1421/2949 | 474/982 | chr9 | TogoVar | |||
ADGRD2_chr9_124445451_124483580 | 124456707 | G | A | missense_variant | MODERATE | HG01099.hp2 HG02257.hp1 HG02922.hp1 |
a0028a0037a0043 | a0028c0068a0037c0047a0043c0088 | a0028c0068t0002a0037c0047t0002a0043c0088t0001 | a0028c0068t0002g0160 a0037c0047t0002g0159 a0043c0088t0001g0217 |
3 | 402 | 0.0075 | 0 | c.151 others(4): Show |
p.Arg others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 10/25 | 1759/3515 | 1511/2949 | 504/982 | chr9 | TogoVar | |||
ADGRD2_chr9_124445451_124483580 | 124456713 | G | A | missense_variant | MODERATE | HG02572.hp1 | a0039 | a0039c0079 | a0039c0079t0002 | a0039c0079t0002g0133 | 1 | 402 | 0.0025 | 0 | c.151 others(4): Show |
p.Arg others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 10/25 | 1765/3515 | 1517/2949 | 506/982 | chr9 | TogoVar | |||
ADGRD2_chr9_124445451_124483580 | 124458113 | G | C | missense_variant others(1): Show |
MODERATE | HG00544.hp2 HG00609.hp1 HG00639.hp1 others(57): Show |
a0004a0009a0011others(14): Show | a0004c0004a0004c0037a0004c0103others(18): Show | a0004c0004t0001a0004c0004t0002a0004c0037t0001others(21): Show | a0004c0004t0001g0015 a0004c0004t0001g0143 a0004c0004t0001g0213 others(44): Show |
60 | 402 | 0.1493 | 0 | c.167 others(4): Show |
p.Gly others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 12/25 | 1921/3515 | 1673/2949 | 558/982 | chr9 | TogoVar | |||
ADGRD2_chr9_124445451_124483580 | 124458236 | G | A | missense_variant others(1): Show |
MODERATE | HG01099.hp2 HG02257.hp1 HG02922.hp1 |
a0028a0037a0043 | a0028c0068a0037c0047a0043c0088 | a0028c0068t0002a0037c0047t0002a0043c0088t0001 | a0028c0068t0002g0160 a0037c0047t0002g0159 a0043c0088t0001g0217 |
3 | 402 | 0.0075 | 0 | c.179 others(4): Show |
p.Arg others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 12/25 | 2044/3515 | 1796/2949 | 599/982 | chr9 | TogoVar | |||
ADGRD2_chr9_124445451_124483580 | 124458627 | C | T | missense_variant | MODERATE | HG01256.hp2 HG01258.hp1 HG02004.hp2 |
a0017 | a0017c0025 | a0017c0025t0001 | a0017c0025t0001g0049 a0017c0025t0001g0294 |
3 | 402 | 0.0075 | 0 | c.180 others(4): Show |
p.Thr others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 13/25 | 2056/3515 | 1808/2949 | 603/982 | chr9 | TogoVar | |||
ADGRD2_chr9_124445451_124483580 | 124458659 | G | C | missense_variant | MODERATE | HG00609.hp1 HG01123.hp2 HG01255.hp1 others(47): Show |
a0004a0009a0024others(7): Show | a0004c0004a0004c0037a0004c0103others(9): Show | a0004c0004t0001a0004c0004t0002a0004c0037t0001others(11): Show | a0004c0004t0001g0015 a0004c0004t0001g0143 a0004c0004t0001g0213 others(35): Show |
50 | 402 | 0.1244 | 0 | c.184 others(4): Show |
p.Val others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 13/25 | 2088/3515 | 1840/2949 | 614/982 | chr9 | TogoVar | |||
ADGRD2_chr9_124445451_124483580 | 124468105 | G | A | missense_variant | MODERATE | NA18522.hp2 | a0052 | a0052c0066 | a0052c0066t0002 | a0052c0066t0002g0086 | 1 | 402 | 0.0025 | 0 | c.218 others(4): Show |
p.Arg others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 16/25 | 2428/3515 | 2180/2949 | 727/982 | chr9 | TogoVar | |||
ADGRD2_chr9_124445451_124483580 | 124468534 | G | A | missense_variant | MODERATE | HG00597.hp2 HG02015.hp1 HG02027.hp2 others(16): Show |
a0014a0015a0022others(8): Show | a0014c0022a0014c0035a0015c0019others(10): Show | a0014c0022t0001a0014c0022t0002a0014c0035t0001others(12): Show | a0014c0022t0001g0152 a0014c0022t0001g0153 a0014c0022t0002g0111 others(15): Show |
19 | 402 | 0.0473 | 0 | c.228 others(4): Show |
p.Val others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 17/25 | 2529/3515 | 2281/2949 | 761/982 | chr9 | TogoVar | |||
ADGRD2_chr9_124445451_124483580 | 124468548 | G | A | missense_variant | MODERATE | HG01243.hp2 HG01891.hp1 HG02723.hp2 |
a0021a0032 | a0021c0095a0021c0097a0032c0060 | a0021c0095t0003a0021c0097t0001a0032c0060t0002 | a0021c0095t0003g0060 a0021c0097t0001g0231 a0032c0060t0002g0196 |
3 | 402 | 0.0075 | 0 | c.229 others(4): Show |
p.Met others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 17/25 | 2543/3515 | 2295/2949 | 765/982 | chr9 | TogoVar | |||
ADGRD2_chr9_124445451_124483580 | 124468585 | G | A | missense_variant | MODERATE | HG02258.hp2 HG02630.hp1 HG02809.hp1 others(9): Show |
a0013a0038a0041others(5): Show | a0013c0020a0013c0033a0038c0073others(6): Show | a0013c0020t0002a0013c0020t0003a0013c0033t0002others(7): Show | a0013c0020t0002g0222 a0013c0020t0003g0055 a0013c0020t0003g0061 others(9): Show |
12 | 402 | 0.0299 | 0 | c.233 others(4): Show |
p.Val others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 17/25 | 2580/3515 | 2332/2949 | 778/982 | chr9 | TogoVar | |||
ADGRD2_chr9_124445451_124483580 | 124468603 | T | C | missense_variant | MODERATE | HG02615.hp1 | a0040 | a0040c0101 | a0040c0101t0002 | a0040c0101t0002g0249 | 1 | 402 | 0.0025 | 0 | c.235 others(4): Show |
p.Trp others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 17/25 | 2598/3515 | 2350/2949 | 784/982 | chr9 | TogoVar | |||
ADGRD2_chr9_124445451_124483580 | 124468612 | G | A | missense_variant | MODERATE | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(227): Show |
a0001a0004a0005others(18): Show | a0001c0001a0001c0005a0001c0014others(39): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(189): Show |
230 | 402 | 0.5721 | 0 | c.235 others(4): Show |
p.Val others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 17/25 | 2607/3515 | 2359/2949 | 787/982 | chr9 | TogoVar | |||
ADGRD2_chr9_124445451_124483580 | 124469224 | G | A | missense_variant others(1): Show |
MODERATE | HG00597.hp2 HG02015.hp1 HG03669.hp1 others(13): Show |
a0014a0015a0022others(5): Show | a0014c0022a0014c0035a0015c0019others(7): Show | a0014c0022t0001a0014c0022t0002a0014c0035t0001others(9): Show | a0014c0022t0001g0152 a0014c0022t0001g0153 a0014c0022t0002g0111 others(12): Show |
16 | 402 | 0.0398 | 0 | c.242 others(4): Show |
p.Val others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 18/25 | 2670/3515 | 2422/2949 | 808/982 | chr9 | TogoVar | |||
ADGRD2_chr9_124445451_124483580 | 124469275 | G | A | missense_variant | MODERATE | HG02258.hp2 HG02809.hp1 HG02886.hp1 others(9): Show |
a0013a0038a0047others(5): Show | a0013c0020a0013c0033a0038c0073others(6): Show | a0013c0020t0002a0013c0020t0003a0013c0033t0002others(7): Show | a0013c0020t0002g0222 a0013c0020t0003g0055 a0013c0020t0003g0061 others(9): Show |
12 | 402 | 0.0299 | 0 | c.247 others(4): Show |
p.Val others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 18/25 | 2721/3515 | 2473/2949 | 825/982 | chr9 | TogoVar | |||
ADGRD2_chr9_124445451_124483580 | 124469300 | A | G | missense_variant | MODERATE | HG01099.hp2 HG02109.hp1 HG02257.hp1 others(5): Show |
a0012a0028a0037others(1): Show | a0012c0015a0028c0068a0037c0047others(1): Show | a0012c0015t0001a0012c0015t0002a0028c0068t0002others(2): Show | a0012c0015t0001g0001 a0012c0015t0001g0264 a0012c0015t0001g0287 others(5): Show |
8 | 402 | 0.0199 | 0 | c.249 others(4): Show |
p.Asn others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 18/25 | 2746/3515 | 2498/2949 | 833/982 | chr9 | TogoVar | |||
ADGRD2_chr9_124445451_124483580 | 124469332 | G | A | missense_variant | MODERATE | HG01243.hp2 HG01884.hp1 HG01891.hp1 others(14): Show |
a0013a0021a0031others(9): Show | a0013c0020a0013c0033a0021c0095others(11): Show | a0013c0020t0002a0013c0020t0003a0013c0033t0002others(12): Show | a0013c0020t0002g0222 a0013c0020t0003g0055 a0013c0020t0003g0061 others(14): Show |
17 | 402 | 0.0423 | 0 | c.253 others(4): Show |
p.Gly others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 18/25 | 2778/3515 | 2530/2949 | 844/982 | chr9 | TogoVar | |||
ADGRD2_chr9_124445451_124483580 | 124469335 | C | T | missense_variant | MODERATE | NA19082.hp1 | a0059 | a0059c0082 | a0059c0082t0002 | a0059c0082t0002g0025 | 1 | 402 | 0.0025 | 0 | c.253 others(4): Show |
p.Pro others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 18/25 | 2781/3515 | 2533/2949 | 845/982 | chr9 | TogoVar | |||
ADGRD2_chr9_124445451_124483580 | 124469484 | G | A | missense_variant | MODERATE | HG01884.hp1 HG02258.hp2 HG02630.hp1 others(9): Show |
a0013a0031a0038others(5): Show | a0013c0020a0013c0033a0031c0044others(6): Show | a0013c0020t0002a0013c0020t0003a0013c0033t0002others(7): Show | a0013c0020t0002g0222 a0013c0020t0003g0055 a0013c0020t0003g0061 others(9): Show |
12 | 402 | 0.0299 | 0 | c.260 others(4): Show |
p.Arg others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 19/25 | 2854/3515 | 2606/2949 | 869/982 | chr9 | TogoVar | |||
ADGRD2_chr9_124445451_124483580 | 124469486 | C | T | missense_variant | MODERATE | HG02258.hp2 HG02630.hp1 HG02809.hp1 others(8): Show |
a0013a0038a0041others(4): Show | a0013c0020a0013c0033a0038c0073others(5): Show | a0013c0020t0002a0013c0020t0003a0013c0033t0002others(6): Show | a0013c0020t0002g0222 a0013c0020t0003g0055 a0013c0020t0003g0061 others(8): Show |
11 | 402 | 0.0274 | 0 | c.260 others(4): Show |
p.Arg others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 19/25 | 2856/3515 | 2608/2949 | 870/982 | chr9 | TogoVar | |||
ADGRD2_chr9_124445451_124483580 | 124469495 | C | G | missense_variant | MODERATE | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(261): Show |
a0001a0004a0005others(33): Show | a0001c0001a0001c0005a0001c0014others(58): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(70): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(219): Show |
264 | 402 | 0.6567 | 0 | c.261 others(4): Show |
p.Arg others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 19/25 | 2865/3515 | 2617/2949 | 873/982 | chr9 | TogoVar | |||
ADGRD2_chr9_124445451_124483580 | 124469516 | T | G | missense_variant | MODERATE | HG01255.hp2 | a0030 | a0030c0098 | a0030c0098t0001 | a0030c0098t0001g0001 | 1 | 402 | 0.0025 | 0 | c.263 others(4): Show |
p.Cys others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 19/25 | 2886/3515 | 2638/2949 | 880/982 | chr9 | TogoVar | |||
ADGRD2_chr9_124445451_124483580 | 124470576 | G | A | missense_variant | MODERATE | NA19087.hp1 | a0060 | a0060c0099 | a0060c0099t0001 | a0060c0099t0001g0001 | 1 | 402 | 0.0025 | 0 | c.275 others(4): Show |
p.Ala others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 20/25 | 3000/3515 | 2752/2949 | 918/982 | chr9 | TogoVar | |||
ADGRD2_chr9_124445451_124483580 | 124470594 | G | A | missense_variant | MODERATE | HG00639.hp1 HG01884.hp1 HG03225.hp1 |
a0027a0031a0047 | a0027c0046a0031c0044a0047c0069 | a0027c0046t0001a0031c0044t0002a0047c0069t0002 | a0027c0046t0001g0208 a0031c0044t0002g0134 a0047c0069t0002g0212 |
3 | 402 | 0.0075 | 0 | c.277 others(4): Show |
p.Val others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 20/25 | 3018/3515 | 2770/2949 | 924/982 | chr9 | TogoVar | |||
ADGRD2_chr9_124445451_124483580 | 124475450 | T | C | missense_variant | MODERATE | NA19030.hp2 | a0055 | a0055c0072 | a0055c0072t0002 | a0055c0072t0002g0209 | 1 | 402 | 0.0025 | 0 | c.279 others(4): Show |
p.Leu others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 21/25 | 3043/3515 | 2795/2949 | 932/982 | chr9 | TogoVar | |||
ADGRD2_chr9_124445451_124483580 | 124476406 | G | A | missense_variant | MODERATE | HG01167.hp2 HG01169.hp2 |
a0020 | a0020c0029 | a0020c0029t0001 | a0020c0029t0001g0002 | 2 | 402 | 0.0050 | 0 | c.292 others(4): Show |
p.Arg others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 23/25 | 3175/3515 | 2927/2949 | 976/982 | chr9 | TogoVar | |||
ADGRE1_chr19_6882579_6945450 | 6887613 | G | T | missense_variant | MODERATE | HG02055.hp1 HG02809.hp1 HG02886.hp2 others(2): Show |
a0036a0044a0046others(2): Show | a0036c0066a0044c0068a0046c0064others(2): Show | a0036c0066t0004a0044c0068t0001a0046c0064t0004others(2): Show | a0036c0066t0004g0081 a0044c0068t0001g0094 a0046c0064t0004g0114 others(2): Show |
5 | 336 | 0.0149 | 0 | c.5G> others(1): Show |
p.Arg others(4): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 1/21 | 35/3112 | 5/2661 | 2/886 | chr19 | TogoVar | |||
ADGRE1_chr19_6882579_6945450 | 6887623 | C | A | missense_variant | MODERATE | HG01516.hp1 | a0034 | a0034c0029 | a0034c0029t0002 | a0034c0029t0002g0230 | 1 | 336 | 0.0030 | 0 | c.15C others(2): Show |
p.Asn others(4): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 1/21 | 45/3112 | 15/2661 | 5/886 | chr19 | TogoVar | |||
ADGRE1_chr19_6882579_6945450 | 6896472 | G | A | missense_variant | MODERATE | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(106): Show |
a0002a0004a0006others(15): Show | a0002c0002a0004c0004a0006c0006others(15): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(31): Show | a0002c0002t0001g0008 a0002c0002t0001g0021 a0002c0002t0001g0022 others(105): Show |
109 | 336 | 0.3244 | 0 | c.169 others(3): Show |
p.Ala others(5): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 3/21 | 199/3112 | 169/2661 | 57/886 | chr19 | TogoVar | |||
ADGRE1_chr19_6882579_6945450 | 6897271 | G | A | missense_variant | MODERATE | HG02258.hp2 HG02280.hp2 HG02615.hp1 others(3): Show |
a0025a0038a0039others(2): Show | a0025c0026a0038c0031a0039c0039others(2): Show | a0025c0026t0001a0038c0031t0005a0039c0039t0006others(2): Show | a0025c0026t0001g0130 a0025c0026t0001g0131 a0038c0031t0005g0129 others(3): Show |
6 | 336 | 0.0179 | 0 | c.361 others(3): Show |
p.Val others(6): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 4/21 | 391/3112 | 361/2661 | 121/886 | chr19 | TogoVar | |||
ADGRE1_chr19_6882579_6945450 | 6897453 | C | G | missense_variant | MODERATE | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(188): Show |
a0002a0004a0005others(42): Show | a0002c0002a0004c0004a0005c0005others(42): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(71): Show | a0002c0002t0001g0008 a0002c0002t0001g0021 a0002c0002t0001g0022 others(185): Show |
191 | 336 | 0.5685 | 0 | c.420 others(3): Show |
p.Ser others(6): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 5/21 | 450/3112 | 420/2661 | 140/886 | chr19 | TogoVar | |||
ADGRE1_chr19_6882579_6945450 | 6901880 | G | A | missense_variant | MODERATE | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(166): Show |
a0002a0004a0005others(31): Show | a0002c0002a0004c0004a0005c0005others(31): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(57): Show | a0002c0002t0001g0008 a0002c0002t0001g0021 a0002c0002t0001g0022 others(163): Show |
169 | 336 | 0.5030 | 0 | c.520 others(3): Show |
p.Asp others(6): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 6/21 | 550/3112 | 520/2661 | 174/886 | chr19 | TogoVar | |||
ADGRE1_chr19_6882579_6945450 | 6901961 | C | T | missense_variant | MODERATE | HG02976.hp1 | a0049 | a0049c0059 | a0049c0059t0001 | a0049c0059t0001g0329 | 1 | 336 | 0.0030 | 0 | c.601 others(3): Show |
p.Pro others(6): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 6/21 | 631/3112 | 601/2661 | 201/886 | chr19 | TogoVar | |||
ADGRE1_chr19_6882579_6945450 | 6903909 | A | G | missense_variant | MODERATE | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(166): Show |
a0002a0004a0005others(31): Show | a0002c0002a0004c0004a0005c0005others(31): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(57): Show | a0002c0002t0001g0008 a0002c0002t0001g0021 a0002c0002t0001g0022 others(163): Show |
169 | 336 | 0.5030 | 0 | c.761 others(3): Show |
p.Asn others(6): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 7/21 | 791/3112 | 761/2661 | 254/886 | chr19 | TogoVar | |||
ADGRE1_chr19_6882579_6945450 | 6904119 | T | A | missense_variant | MODERATE | NA18987.hp1 | a0063 | a0063c0041 | a0063c0041t0002 | a0063c0041t0002g0229 | 1 | 336 | 0.0030 | 0 | c.886 others(3): Show |
p.Cys others(6): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 8/21 | 916/3112 | 886/2661 | 296/886 | chr19 | TogoVar |