Location | Gene | RefSeq Match | cDNA_ position | CDS_ position | Protein_ position | Amino_ acids | Codons | Read depth | Exon | Variant type | gnomAD_ Allele Freq | Rs_number |
---|---|---|---|---|---|---|---|---|---|---|---|---|
3:78717171-78717171 | ROBO1 | NM_002941 | 1942 | 1828 | 610 | V/I | Gta/Ata | 84 | 14 | Missense | 0.0005077 | rs141178745 |
3:77530342-77530342 | ROBO2 | NM_002942 | 695 | 639 | 213 | D/E | gaC/gaG | 101 | 4 | Missense | 0.0003215 | rs184080216 |
3:77629200-77629200 | ROBO2 | NM_002942 | 3331 | 2431 | 811 | R/W | Cgg/Tgg | 200 | 16 | Missense | 0.008396 | rs188582283 |
11:124,740,559–124,740,559 | ROBO3 | NM_022370 | 1160 | 968 | 323 | T/M | aCg/aTg | 55 | 6 | Missense | 0.002300 | rs151168595 |
11:124743284-124743284 | ROBO3 | NM_022370 | 1807 | 1615 | 539 | R/W | Cgg/Tgg | 171 | 10 | Missense | 0.003234 | rs139930558 |
11:124746004-124746004 | ROBO3 | NM_022370 | 2768 | 2576 | 859 | P/Q | cCa/cAa | 55 | 16 | Missense | – | – |
11:124747839-124747839 | ROBO3 | NM_022370 | 3185 | 2993 | 998 | G/V | gGa/gTa | 40 | 21 | Missense | 0.001755 | rs75098003 |
11:124748637-124748637 | ROBO3 | NM_022370 | 3670 | 3478 | 1160 | P/S | Cct/Tct | 259 | 23 | Missense | – | – |
11:124765481-124765481 | ROBO4 | NM_019055 | 1394 | 908 | 303 | A/D | cGg/cTg | 71 | 6 | Missense | – | – |
11:124763923-124763923 | ROBO4 | NM_019055 | 1823 | 1337 | 446 | A/D | cGg/cTg | 43 | 9 | Missense | 0.000 | rs1287612263 |
11:124756982-124756982 | ROBO4 | NM_019055 | 2812 | 2326 | 776 | R/C | Gcg/Acg | 96 | 15 | Missense | 0.004699 | rs138481093 |
11:124756431-124756431 | ROBO4 | NM_019055 | 3209 | 2723 | 908 | R/Q | gCc/gTc | 77 | 16 | Missense | 3.891e-05 | rs747627515 |
11:124754934-124754934 | ROBO4 | NM_019055 | - | - | - | - | - | 270 | - | Splice_donor_region | 0.009486 | rs145918924 |
10:98825811-98825811 | SLIT1 | NM_003061 | 692 | 446 | 149 | P/L | gGg/gAg | 257 | 5 | Missense | 0.000 | rs1459814303 |
10:98823216-98823216 | SLIT1 | NM_003061 | 1035 | 789 | 263 | C/* | acG/acT | 67 | 8 | Stop_gained | – | – |
10:98808814-98808814 | SLIT1 | NM_003061 | 1609 | 1363 | 455 | R/S | Gcg/Tcg | 72 | 14 | Missense | – | – |
10:98763933-98763933 | SLIT1 | NM_003061 | 4003 | 3757 | 1253 | A/T | Cgg/Tgg | 49 | 34 | Missense | 8.131e-05 | rs751020526 |
10:98762595-98762595 | SLIT1 | NM_003061 | 4266 | 4020 | 1340 | E/D | ctT/ctG | 70 | 35 | Missense | 0.002267 | rs747965419 |
10:98762470-98762470 | SLIT1 | NM_003061 | 4391 | 4145 | 1382 | H/R | cAt/cGt | 539 | 35 | Missense | 1.773e-05 | rs768287574 |
10:98762079-98762079 | SLIT1 | NM_003061 | 4448 | 4202 | 1401 | C/F | aCg/aAg | 52 | 36 | Missense | – | – |
4:20618562-20618562 | SLIT2 | NM_004787 | 4129 | 3877 | 1293 | L/M | Ctg/Atg | 67 | 35 | Missense | – | – |
5:168189673-168189673 | SLIT3 | NM_003062 | 1901 | 1481 | 494 | R/T | tCc/tGc | 85 | 15 | Missense | 0.0009129 | rs147560182 |
5:168180047-168180047 | SLIT3 | NM_003062 | 2306 | 1886 | 629 | S/N | tCa/tTa | 144 | 18 | Missense | 0.007048 | rs34260167 |
5:168098265-168098265 | SLIT3 | NM_003062 | 4485 | 4065 | 1355 | C/* | acG/acT | 88 | 34 | Stop_gained | – | – |