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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANKRD30BL_chr2_132142591_132166952 | 132161687 | C | G | missense_variant | MODERATE | NA18994.hp2 | a0007 | a0007c0009 | a0007c0009t0004 | a0007c0009t0004g0057 | 1 | 406 | 0.0025 | 0 | c.19G others(2): Show |
p.Ala others(4): Show |
ANKRD30BL | ENSG00000163046.16 | transcript | ENST00000409867.6 | protein_coding | 1/6 | 266/1564 | 19/777 | 7/258 | chr2 | TogoVar | ||
ANKRD30B_chr18_14743172_14859667 | 14748428 | G | T | missense_variant | MODERATE | HG01081.hp1 HG02004.hp2 |
a0044a0045 | a0044c0064a0045c0065 | a0044c0064t0001a0045c0065t0001 | a0044c0064t0001g0218a0045c0065t0001g0194 | 2 | 316 | 0.0063 | 0 | c.9G> others(1): Show |
p.Arg others(4): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 1/44 | 257/5335 | 9/4578 | 3/1525 | chr18 | TogoVar | ||
ANKRD30B_chr18_14743172_14859667 | 14752855 | G | A | missense_variant | MODERATE | HG01993.hp1 | a0019 | a0019c0020 | a0019c0020t0001 | a0019c0020t0001g0234 | 1 | 316 | 0.0032 | 0 | c.353 others(3): Show |
p.Arg others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 3/44 | 601/5335 | 353/4578 | 118/1525 | chr18 | TogoVar | ||
ANKRD30B_chr18_14743172_14859667 | 14763806 | C | T | missense_variant | MODERATE | HG03688.hp1 | a0020 | a0020c0040 | a0020c0040t0001 | a0020c0040t0001g0206 | 1 | 316 | 0.0032 | 0 | c.941 others(3): Show |
p.Ser others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 7/44 | 1189/5335 | 941/4578 | 314/1525 | chr18 | TogoVar | ||
ANKRD30B_chr18_14743172_14859667 | 14763988 | G | A | missense_variant | MODERATE | HG02486.hp1 HG02647.hp1 HG02818.hp2 others(5): Show |
a0009a0013a0014others(1): Show | a0009c0013a0013c0017a0014c0018others(1): Show | a0009c0013t0005a0013c0017t0001a0013c0017t0005others(2): Show | a0009c0013t0005g0100a0009c0013t0005g0104a0009c0013t0005g0105others(5): Show | 8 | 316 | 0.0253 | 0 | c.112 others(4): Show |
p.Val others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 7/44 | 1371/5335 | 1123/4578 | 375/1525 | chr18 | TogoVar | ||
ANKRD30B_chr18_14743172_14859667 | 14764034 | C | T | missense_variant | MODERATE | NA19001.hp1 | a0022 | a0022c0061 | a0022c0061t0002 | a0022c0061t0002g0042 | 1 | 316 | 0.0032 | 0 | c.116 others(4): Show |
p.Thr others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 7/44 | 1417/5335 | 1169/4578 | 390/1525 | chr18 | TogoVar | ||
ANKRD30B_chr18_14743172_14859667 | 14764088 | A | G | missense_variant others(1): Show |
MODERATE | HG02622.hp1 | a0043 | a0043c0039 | a0043c0039t0009 | a0043c0039t0009g0230 | 1 | 316 | 0.0032 | 0 | c.122 others(4): Show |
p.Asn others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 7/44 | 1471/5335 | 1223/4578 | 408/1525 | chr18 | TogoVar | ||
ANKRD30B_chr18_14743172_14859667 | 14769349 | T | A | missense_variant | MODERATE | HG01243.hp1 | a0023 | a0023c0043 | a0023c0043t0001 | a0023c0043t0001g0095 | 1 | 316 | 0.0032 | 0 | c.123 others(4): Show |
p.Val others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 8/44 | 1480/5335 | 1232/4578 | 411/1525 | chr18 | TogoVar | ||
ANKRD30B_chr18_14743172_14859667 | 14778016 | C | G | missense_variant | MODERATE | HG03130.hp2 | a0024 | a0024c0038 | a0024c0038t0008 | a0024c0038t0008g0238 | 1 | 316 | 0.0032 | 0 | c.136 others(4): Show |
p.Thr others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 10/44 | 1609/5335 | 1361/4578 | 454/1525 | chr18 | TogoVar | ||
ANKRD30B_chr18_14743172_14859667 | 14779970 | C | G | missense_variant | MODERATE | HG00099.hp2 HG00323.hp2 HG00423.hp1 others(161): Show |
a0001a0012a0016others(14): Show | a0001c0001a0001c0003a0001c0011others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(158): Show | 164 | 316 | 0.5190 | 0 | c.143 others(4): Show |
p.Phe others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 11/44 | 1679/5335 | 1431/4578 | 477/1525 | chr18 | TogoVar | ||
ANKRD30B_chr18_14743172_14859667 | 14784469 | G | A | missense_variant | MODERATE | HG00609.hp1 HG02165.hp1 |
a0016 | a0016c0031a0016c0050 | a0016c0031t0003a0016c0050t0003 | a0016c0031t0003g0124a0016c0050t0003g0059 | 2 | 316 | 0.0063 | 0 | c.160 others(4): Show |
p.Val others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 14/44 | 1854/5335 | 1606/4578 | 536/1525 | chr18 | TogoVar | ||
ANKRD30B_chr18_14743172_14859667 | 14791404 | C | T | missense_variant | MODERATE | HG02135.hp2 NA18747.hp1 NA19004.hp1 |
a0012 | a0012c0012 | a0012c0012t0002 | a0012c0012t0002g0108a0012c0012t0002g0153a0012c0012t0002g0154 | 3 | 316 | 0.0095 | 0 | c.173 others(4): Show |
p.Pro others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 16/44 | 1986/5335 | 1738/4578 | 580/1525 | chr18 | TogoVar | ||
ANKRD30B_chr18_14743172_14859667 | 14791405 | C | T | missense_variant | MODERATE | HG02135.hp2 NA18747.hp1 NA19004.hp1 |
a0012 | a0012c0012 | a0012c0012t0002 | a0012c0012t0002g0108a0012c0012t0002g0153a0012c0012t0002g0154 | 3 | 316 | 0.0095 | 0 | c.173 others(4): Show |
p.Pro others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 16/44 | 1987/5335 | 1739/4578 | 580/1525 | chr18 | TogoVar | ||
ANKRD30B_chr18_14743172_14859667 | 14791407 | T | C | missense_variant | MODERATE | HG02135.hp2 NA18747.hp1 NA19004.hp1 |
a0012 | a0012c0012 | a0012c0012t0002 | a0012c0012t0002g0108a0012c0012t0002g0153a0012c0012t0002g0154 | 3 | 316 | 0.0095 | 0 | c.174 others(4): Show |
p.Cys others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 16/44 | 1989/5335 | 1741/4578 | 581/1525 | chr18 | TogoVar | ||
ANKRD30B_chr18_14743172_14859667 | 14791408 | G | T | missense_variant | MODERATE | HG02135.hp2 NA18747.hp1 NA19004.hp1 |
a0012 | a0012c0012 | a0012c0012t0002 | a0012c0012t0002g0108a0012c0012t0002g0153a0012c0012t0002g0154 | 3 | 316 | 0.0095 | 0 | c.174 others(4): Show |
p.Cys others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 16/44 | 1990/5335 | 1742/4578 | 581/1525 | chr18 | TogoVar | ||
ANKRD30B_chr18_14743172_14859667 | 14791413 | A | G | missense_variant | MODERATE | HG02135.hp2 NA18747.hp1 NA19004.hp1 |
a0012 | a0012c0012 | a0012c0012t0002 | a0012c0012t0002g0108a0012c0012t0002g0153a0012c0012t0002g0154 | 3 | 316 | 0.0095 | 0 | c.174 others(4): Show |
p.Thr others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 16/44 | 1995/5335 | 1747/4578 | 583/1525 | chr18 | TogoVar | ||
ANKRD30B_chr18_14743172_14859667 | 14791416 | G | C | missense_variant | MODERATE | HG02135.hp2 NA18747.hp1 NA19004.hp1 |
a0012 | a0012c0012 | a0012c0012t0002 | a0012c0012t0002g0108a0012c0012t0002g0153a0012c0012t0002g0154 | 3 | 316 | 0.0095 | 0 | c.175 others(4): Show |
p.Val others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 16/44 | 1998/5335 | 1750/4578 | 584/1525 | chr18 | TogoVar | ||
ANKRD30B_chr18_14743172_14859667 | 14791420 | C | T | missense_variant | MODERATE | HG02135.hp2 NA18747.hp1 NA19004.hp1 |
a0012 | a0012c0012 | a0012c0012t0002 | a0012c0012t0002g0108a0012c0012t0002g0153a0012c0012t0002g0154 | 3 | 316 | 0.0095 | 0 | c.175 others(4): Show |
p.Ser others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 16/44 | 2002/5335 | 1754/4578 | 585/1525 | chr18 | TogoVar | ||
ANKRD30B_chr18_14743172_14859667 | 14791427 | G | T | missense_variant | MODERATE | HG02135.hp2 NA18747.hp1 NA19004.hp1 |
a0012 | a0012c0012 | a0012c0012t0002 | a0012c0012t0002g0108a0012c0012t0002g0153a0012c0012t0002g0154 | 3 | 316 | 0.0095 | 0 | c.176 others(4): Show |
p.Lys others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 16/44 | 2009/5335 | 1761/4578 | 587/1525 | chr18 | TogoVar | ||
ANKRD30B_chr18_14743172_14859667 | 14791435 | A | G | missense_variant | MODERATE | HG02135.hp2 NA18747.hp1 NA19004.hp1 |
a0012 | a0012c0012 | a0012c0012t0002 | a0012c0012t0002g0108a0012c0012t0002g0153a0012c0012t0002g0154 | 3 | 316 | 0.0095 | 0 | c.176 others(4): Show |
p.Tyr others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 16/44 | 2017/5335 | 1769/4578 | 590/1525 | chr18 | TogoVar | ||
ANKRD30B_chr18_14743172_14859667 | 14803746 | A | G | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(289): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0003a0001c0011others(47): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(61): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(284): Show | 292 | 316 | 0.9241 | 0 | c.220 others(4): Show |
p.Thr others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 24/44 | 2454/5335 | 2206/4578 | 736/1525 | chr18 | TogoVar | ||
ANKRD30B_chr18_14743172_14859667 | 14803765 | T | G | missense_variant | MODERATE | HG00099.hp1 HG00323.hp1 HG00423.hp2 others(118): Show |
a0002a0003a0005others(12): Show | a0002c0002a0002c0004a0003c0006others(17): Show | a0002c0002t0001a0002c0002t0012a0002c0004t0001others(21): Show | a0002c0002t0001g0098a0002c0002t0001g0107a0002c0002t0001g0109others(116): Show | 121 | 316 | 0.3829 | 0 | c.222 others(4): Show |
p.Val others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 24/44 | 2473/5335 | 2225/4578 | 742/1525 | chr18 | TogoVar | ||
ANKRD30B_chr18_14743172_14859667 | 14803778 | G | C | missense_variant | MODERATE | HG02258.hp2 HG03139.hp2 HG03195.hp2 others(1): Show |
a0007 | a0007c0009 | a0007c0009t0007 | a0007c0009t0007g0128a0007c0009t0007g0129a0007c0009t0007g0226others(1): Show | 4 | 316 | 0.0127 | 0 | c.223 others(4): Show |
p.Lys others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 24/44 | 2486/5335 | 2238/4578 | 746/1525 | chr18 | TogoVar | ||
ANKRD30B_chr18_14743172_14859667 | 14808559 | G | A | missense_variant | MODERATE | HG02055.hp1 | a0029 | a0029c0024 | a0029c0024t0001 | a0029c0024t0001g0235 | 1 | 316 | 0.0032 | 0 | c.229 others(4): Show |
p.Asp others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 25/44 | 2541/5335 | 2293/4578 | 765/1525 | chr18 | TogoVar | ||
ANKRD30B_chr18_14743172_14859667 | 14809991 | C | T | missense_variant | MODERATE | HG02145.hp2 NA18972.hp1 NA19060.hp1 |
a0011 | a0011c0014 | a0011c0014t0001 | a0011c0014t0001g0086a0011c0014t0001g0264a0011c0014t0001g0265 | 3 | 316 | 0.0095 | 0 | c.239 others(4): Show |
p.Pro others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 27/44 | 2640/5335 | 2392/4578 | 798/1525 | chr18 | TogoVar | ||
ANKRD30B_chr18_14743172_14859667 | 14810118 | T | G | missense_variant | MODERATE | HG00544.hp2 | a0035 | a0035c0054 | a0035c0054t0001 | a0035c0054t0001g0258 | 1 | 316 | 0.0032 | 0 | c.242 others(4): Show |
p.Val others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 28/44 | 2674/5335 | 2426/4578 | 809/1525 | chr18 | TogoVar | ||
ANKRD30B_chr18_14743172_14859667 | 14810129 | T | C | missense_variant | MODERATE | HG03471.hp2 | a0021 | a0021c0042 | a0021c0042t0005 | a0021c0042t0005g0099 | 1 | 316 | 0.0032 | 0 | c.243 others(4): Show |
p.Ser others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 28/44 | 2685/5335 | 2437/4578 | 813/1525 | chr18 | TogoVar | ||
ANKRD30B_chr18_14743172_14859667 | 14810173 | A | C | missense_variant | MODERATE | HG00609.hp2 | a0026 | a0026c0029 | a0026c0029t0001 | a0026c0029t0001g0203 | 1 | 316 | 0.0032 | 0 | c.248 others(4): Show |
p.Leu others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 28/44 | 2729/5335 | 2481/4578 | 827/1525 | chr18 | TogoVar | ||
ANKRD30B_chr18_14743172_14859667 | 14813125 | C | T | missense_variant | MODERATE | HG02055.hp2 | a0036 | a0036c0035 | a0036c0035t0004 | a0036c0035t0004g0306 | 1 | 316 | 0.0032 | 0 | c.251 others(4): Show |
p.Ser others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 29/44 | 2758/5335 | 2510/4578 | 837/1525 | chr18 | TogoVar | ||
ANKRD30B_chr18_14743172_14859667 | 14814633 | G | A | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(290): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0003a0001c0011others(47): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(60): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(284): Show | 293 | 316 | 0.9272 | 0 | c.256 others(4): Show |
p.Ala others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 30/44 | 2811/5335 | 2563/4578 | 855/1525 | chr18 | TogoVar | ||
ANKRD30B_chr18_14743172_14859667 | 14814652 | G | T | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(298): Show |
a0001a0002a0003others(35): Show | a0001c0001a0001c0003a0001c0011others(52): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(66): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(292): Show | 301 | 316 | 0.9525 | 0 | c.258 others(4): Show |
p.Gly others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 30/44 | 2830/5335 | 2582/4578 | 861/1525 | chr18 | TogoVar | ||
ANKRD30B_chr18_14743172_14859667 | 14828290 | C | T | missense_variant | MODERATE | NA18956.hp2 | a0038 | a0038c0057 | a0038c0057t0003 | a0038c0057t0003g0273 | 1 | 316 | 0.0032 | 0 | c.275 others(4): Show |
p.Ser others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 33/44 | 3004/5335 | 2756/4578 | 919/1525 | chr18 | TogoVar | ||
ANKRD30B_chr18_14743172_14859667 | 14837247 | C | T | missense_variant | MODERATE | HG02451.hp2 HG02486.hp2 HG02572.hp2 others(4): Show |
a0004 | a0004c0007a0004c0022a0004c0045 | a0004c0007t0001a0004c0022t0001a0004c0045t0010 | a0004c0007t0001g0005a0004c0007t0001g0299a0004c0007t0001g0309others(3): Show | 7 | 316 | 0.0222 | 0 | c.288 others(4): Show |
p.Arg others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 35/44 | 3132/5335 | 2884/4578 | 962/1525 | chr18 | TogoVar | ||
ANKRD30B_chr18_14743172_14859667 | 14843024 | C | G | missense_variant others(1): Show |
MODERATE | HG01515.hp1 | a0039 | a0039c0056 | a0039c0056t0001 | a0039c0056t0001g0257 | 1 | 316 | 0.0032 | 0 | c.310 others(4): Show |
p.Pro others(7): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 39/44 | 3357/5335 | 3109/4578 | 1037/1525 | chr18 | TogoVar | ||
ANKRD30B_chr18_14743172_14859667 | 14848749 | T | C | missense_variant | MODERATE | HG01243.hp1 HG02615.hp1 HG02630.hp2 others(7): Show |
a0008a0009a0021others(2): Show | a0008c0010a0009c0013a0021c0042others(2): Show | a0008c0010t0001a0008c0010t0008a0009c0013t0005others(3): Show | a0008c0010t0001g0261a0008c0010t0001g0262a0008c0010t0008g0006others(7): Show | 10 | 316 | 0.0317 | 0 | c.321 others(4): Show |
p.Leu others(7): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 40/44 | 3463/5335 | 3215/4578 | 1072/1525 | chr18 | TogoVar | ||
ANKRD30B_chr18_14743172_14859667 | 14848821 | C | T | missense_variant | MODERATE | HG00099.hp1 HG00323.hp1 HG00423.hp2 others(100): Show |
a0002a0010a0015others(9): Show | a0002c0002a0002c0004a0010c0026others(13): Show | a0002c0002t0001a0002c0002t0012a0002c0004t0001others(14): Show | a0002c0002t0001g0098a0002c0002t0001g0107a0002c0002t0001g0109others(99): Show | 103 | 316 | 0.3260 | 0 | c.328 others(4): Show |
p.Thr others(7): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 40/44 | 3535/5335 | 3287/4578 | 1096/1525 | chr18 | TogoVar | ||
ANKRD30B_chr18_14743172_14859667 | 14851675 | A | T | missense_variant | MODERATE | NA19085.hp2 | a0028 | a0028c0025 | a0028c0025t0001 | a0028c0025t0001g0202 | 1 | 316 | 0.0032 | 0 | c.373 others(4): Show |
p.Glu others(7): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 42/44 | 3979/5335 | 3731/4578 | 1244/1525 | chr18 | TogoVar | ||
ANKRD30B_chr18_14743172_14859667 | 14851921 | G | T | missense_variant | MODERATE | NA19030.hp2 | a0041 | a0041c0034 | a0041c0034t0004 | a0041c0034t0004g0300 | 1 | 316 | 0.0032 | 0 | c.397 others(4): Show |
p.Gly others(7): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 42/44 | 4225/5335 | 3977/4578 | 1326/1525 | chr18 | TogoVar | ||
ANKRD30B_chr18_14743172_14859667 | 14852336 | C | A | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(301): Show |
a0001a0002a0004others(37): Show | a0001c0001a0001c0003a0001c0011others(55): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(69): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(296): Show | 304 | 316 | 0.9620 | 0 | c.439 others(4): Show |
p.Asn others(7): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 42/44 | 4640/5335 | 4392/4578 | 1464/1525 | chr18 | TogoVar | ||
ANKRD30B_chr18_14743172_14859667 | 14852398 | A | G | missense_variant | MODERATE | HG03486.hp1 | a0040 | a0040c0033 | a0040c0033t0004 | a0040c0033t0004g0304 | 1 | 316 | 0.0032 | 0 | c.445 others(4): Show |
p.Glu others(7): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 42/44 | 4702/5335 | 4454/4578 | 1485/1525 | chr18 | TogoVar | ||
ANKRD31_chr5_75063297_75241878 | 75080571 | G | C | missense_variant | MODERATE | NA18962.hp1 | a0021 | a0021c0031 | a0021c0031t0002 | a0021c0031t0002g0212 | 1 | 334 | 0.0030 | 0 | c.564 others(4): Show |
p.Gln others(7): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 25/26 | 5836/6207 | 5644/5793 | 1882/1930 | chr5 | TogoVar | ||
ANKRD31_chr5_75063297_75241878 | 75091275 | A | G | missense_variant | MODERATE | HG02071.hp2 | a0025 | a0025c0025 | a0025c0025t0001 | a0025c0025t0001g0096 | 1 | 334 | 0.0030 | 0 | c.545 others(4): Show |
p.Tyr others(7): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 23/26 | 5650/6207 | 5458/5793 | 1820/1930 | chr5 | TogoVar | ||
ANKRD31_chr5_75063297_75241878 | 75104326 | A | C | missense_variant | MODERATE | HG02056.hp1 HG02132.hp1 HG02135.hp1 others(4): Show |
a0009 | a0009c0010a0009c0037 | a0009c0010t0001a0009c0037t0001 | a0009c0010t0001g0006a0009c0010t0001g0321a0009c0010t0001g0322others(3): Show | 7 | 334 | 0.0210 | 0 | c.523 others(4): Show |
p.Tyr others(7): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 22/26 | 5425/6207 | 5233/5793 | 1745/1930 | chr5 | TogoVar | ||
ANKRD31_chr5_75063297_75241878 | 75104499 | C | T | missense_variant | MODERATE | HG01192.hp1 HG01261.hp1 homoSapiens_chm13v2.hp1 |
a0012 | a0012c0014 | a0012c0014t0002 | a0012c0014t0002g0185a0012c0014t0002g0186a0012c0014t0002g0257 | 3 | 334 | 0.0090 | 0 | c.506 others(4): Show |
p.Gly others(7): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 22/26 | 5252/6207 | 5060/5793 | 1687/1930 | chr5 | TogoVar | ||
ANKRD31_chr5_75063297_75241878 | 75104553 | T | C | missense_variant | MODERATE | HG02486.hp1 | a0019 | a0019c0023 | a0019c0023t0009 | a0019c0023t0009g0285 | 1 | 334 | 0.0030 | 0 | c.500 others(4): Show |
p.Asn others(7): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 22/26 | 5198/6207 | 5006/5793 | 1669/1930 | chr5 | TogoVar | ||
ANKRD31_chr5_75063297_75241878 | 75104561 | G | C | missense_variant | MODERATE | HG00280.hp1 HG00558.hp2 HG00609.hp1 others(63): Show |
a0002a0013a0028 | a0002c0002a0002c0022a0013c0013others(1): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0008others(3): Show | a0002c0002t0001g0001a0002c0002t0001g0021a0002c0002t0001g0022others(62): Show | 66 | 334 | 0.1976 | 0 | c.499 others(4): Show |
p.Asp others(7): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 22/26 | 5190/6207 | 4998/5793 | 1666/1930 | chr5 | TogoVar | ||
ANKRD31_chr5_75063297_75241878 | 75104575 | T | C | missense_variant | MODERATE | HG02056.hp1 HG02132.hp1 HG02135.hp1 others(4): Show |
a0009 | a0009c0010a0009c0037 | a0009c0010t0001a0009c0037t0001 | a0009c0010t0001g0006a0009c0010t0001g0321a0009c0010t0001g0322others(3): Show | 7 | 334 | 0.0210 | 0 | c.498 others(4): Show |
p.Ile others(7): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 22/26 | 5176/6207 | 4984/5793 | 1662/1930 | chr5 | TogoVar | ||
ANKRD31_chr5_75063297_75241878 | 75104596 | C | T | missense_variant | MODERATE | HG01109.hp1 | a0027 | a0027c0019 | a0027c0019t0003 | a0027c0019t0003g0011 | 1 | 334 | 0.0030 | 0 | c.496 others(4): Show |
p.Ala others(7): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 22/26 | 5155/6207 | 4963/5793 | 1655/1930 | chr5 | TogoVar | ||
ANKRD31_chr5_75063297_75241878 | 75104641 | C | T | missense_variant | MODERATE | HG03098.hp2 HG03453.hp2 |
a0017 | a0017c0018 | a0017c0018t0001 | a0017c0018t0001g0326a0017c0018t0001g0327 | 2 | 334 | 0.0060 | 0 | c.491 others(4): Show |
p.Gly others(7): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 22/26 | 5110/6207 | 4918/5793 | 1640/1930 | chr5 | TogoVar | ||
ANKRD31_chr5_75063297_75241878 | 75104680 | C | T | missense_variant | MODERATE | HG00735.hp2 HG01081.hp1 HG01891.hp1 others(11): Show |
a0008a0014a0030 | a0008c0008a0014c0017a0030c0036 | a0008c0008t0001a0008c0008t0010a0014c0017t0001others(1): Show | a0008c0008t0001g0172a0008c0008t0001g0173a0008c0008t0001g0174others(11): Show | 14 | 334 | 0.0419 | 0 | c.487 others(4): Show |
p.Asp others(7): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 22/26 | 5071/6207 | 4879/5793 | 1627/1930 | chr5 | TogoVar |