Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.77649952T>C | CA77534823 | ROBO2 | c.*3897T>C (n.*3897T>C) c.7650T>C (n.7650T>C) c.*3894T>C (n.*3894T>C) | dbSNP |
3 | g.77649952T= | CA1376780261 | ROBO2 | c.*3897T= (n.*3897T=) c.7650T= (n.7650T=) c.*3894T= (n.*3894T=) | |
3 | g.77649954C>A | CA2666590453 | ROBO2 | c.*3899C>A (n.*3899C>A) c.7652C>A (n.7652C>A) c.*3896C>A (n.*3896C>A) | gnomAD v4 |
3 | g.77649955A= | CA1376780262 | ROBO2 | c.*3900A= (n.*3900A=) c.7653A= (n.7653A=) c.*3897A= (n.*3897A=) | |
3 | g.77649955A>C | CA77534824 | ROBO2 | c.*3900A>C (n.*3900A>C) c.7653A>C (n.7653A>C) c.*3897A>C (n.*3897A>C) | dbSNP |
3 | g.77649965T>C | CA910608383 | dbSNP | ||
3 | g.77649965T= | CA1376780263 | |||
3 | g.77649968G>C | CA77534827 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.77649968G= | CA1376780264 | |||
3 | g.77649971G>C | CA77534829 | dbSNP | ||
3 | g.77649971G= | CA1376780265 | |||
3 | g.77649971G>T | CA2666590454 | gnomAD v4 | ||
3 | g.77649974A>G | CA2666590455 | gnomAD v4 | ||
3 | g.77649975A>G | CA2666590456 | gnomAD v4 | ||
3 | g.77649978C= | CA1376780266 | |||
3 | g.77649978C>T | CA10654666 | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.77649979A= | CA1376780267 | |||
3 | g.77649980T>C | CA1376780269 | dbSNP | ||
3 | g.77649980T= | CA1376780268 | |||
3 | g.77649982dup | CA910608390 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.77649981T>C | CA77534833 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.77649981T= | CA1376780270 | |||
3 | g.77649982T>C | CA1049825425 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.77649982T= | CA1376780271 | |||
3 | g.77649984T>C | CA910608393 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.77649984T= | CA1376780272 | |||
3 | g.77649985G>A | CA77534837 | dbSNP gnomAD v4 | ||
3 | g.77649985G= | CA1376780273 | |||
3 | g.77649986T>A | CA1376780275 | dbSNP | ||
3 | g.77649986T= | CA1376780274 | |||
3 | g.77649990A= | CA1376780276 | |||
3 | g.77649990A>G | CA544044694 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.77649994A= | CA1376780277 | |||
3 | g.77649994A>C | CA1376780278 | dbSNP | ||
3 | g.77649994A>G | CA2666590457 | gnomAD v4 | ||
3 | g.77649994_77650031delinsACCTGTTTGTAGACATGCTAAAAAAAGACCAGGTAGCC | CA1376780279 | |||
3 | g.77649995C>A | CA544044695 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.77649995C= | CA1376780280 | |||
3 | g.77649995_77650031del | CA1049825428 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.77649996C>A | CA2666590458 | gnomAD v4 | ||
3 | g.77649998G>C | CA77534842 | dbSNP | ||
3 | g.77649998G= | CA1376780281 | |||
3 | g.77649998_77649999delinsGT | CA1376780282 | |||
3 | g.77649999T>A | CA2756900206 | |||
3 | g.77650001del | CA910608402 | dbSNP | ||
3 | g.77650002G>A | CA77534845 | dbSNP | ||
3 | g.77650002G= | CA1376780283 | |||
3 | g.77650003T>A | CA2600456185 | gnomAD v3 gnomAD v4 | ||
3 | g.77650004A>T | CA2666590459 | gnomAD v4 | ||
3 | g.77650005G>A | CA2600456187 | gnomAD v3 gnomAD v4 | ||
3 | g.77650005G>T | CA2666590460 | gnomAD v4 | ||
3 | g.77650007C>A | CA2600456188 | gnomAD v3 gnomAD v4 | ||
3 | g.77650008A>G | CA2666590461 | gnomAD v4 | ||
3 | g.77650009T>C | CA1376780285 | dbSNP | ||
3 | g.77650009T= | CA1376780284 | |||
3 | g.77650009_77650012del | CA1049825437 | gnomAD v3 gnomAD v4 | ||
3 | g.77650010G>C | CA2666590462 | gnomAD v4 | ||
3 | g.77650010G= | CA1376780286 | |||
3 | g.77650010G>T | CA2666590463 | gnomAD v4 | ||
3 | g.77650011C>A | CA2666590464 | gnomAD v4 | ||
3 | g.77650011C= | CA1376780287 | |||
3 | g.77650011C>T | CA77534847 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.77650011dup | CA1049825442 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.77650011_77650012delinsCT | CA1376780288 | |||
3 | g.77650012del | CA910608415 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.77650012T>A | CA910608408 | dbSNP gnomAD v4 | ||
3 | g.77650012T>C | CA77534850 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.77650012T= | CA1376780289 | |||
3 | g.77650013A= | CA1376780290 | |||
3 | g.77650013A>C | CA77534852 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.77650019del | CA2666590465 | gnomAD v4 | ||
3 | g.77650014A= | CA1376780291 | |||
3 | g.77650014A>G | CA1376780292 | dbSNP | ||
3 | g.77650050_77650051insTAGTCACAAAATATTAATGCAGAGTTCTAAAAAAGACCAGGTAGCCACTTTTAGAACTCTGCATT | CA2517279341 | |||
3 | g.77650017A= | CA1376780293 | |||
3 | g.77650017A>G | CA1049825453 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.77650019A= | CA1376780294 | |||
3 | g.77650019_77650020delinsAG | CA1376780295 | |||
3 | g.77650020del | CA1049825456 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.77650020G>T | CA2666590466 | gnomAD v4 | ||
3 | g.77650020dup | CA1049825455 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.77650020_77650021delinsGA | CA1376780296 | |||
3 | g.77650021del | CA910608418 | dbSNP | ||
3 | g.77650021A= | CA1376780297 | |||
3 | g.77650021A>C | CA1376780298 | dbSNP | ||
3 | g.77650021A>T | CA2666590467 | gnomAD v4 | ||
3 | g.77650022C>A | CA2756900207 | |||
3 | g.77650022C= | CA1376780299 | |||
3 | g.77650022C>T | CA77534855 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.77650023C>A | CA544044696 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.77650023C= | CA1376780300 | |||
3 | g.77650023C>T | CA1376780301 | dbSNP | ||
3 | g.77650024_77650025delinsAG | CA1376780302 | |||
3 | g.77650025G>A | CA77534857 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.77650025G= | CA1376780304 | |||
3 | g.77650026del | CA1376780303 | dbSNP | ||
3 | g.77650026G>A | CA910608426 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.77650026G= | CA1376780305 | |||
3 | g.77650026G>T | CA2565888938 | |||
3 | g.77650029G>A | CA910608427 | dbSNP | ||
3 | g.77650029G= | CA1376780306 | |||
3 | g.77650030C>A | CA1049825466 | gnomAD v3 gnomAD v4 | ||
3 | g.77650036T>G | CA544044697 | dbSNP gnomAD v2 | ||
3 | g.77650036T= | CA1376780307 | |||
3 | g.77650038A= | CA1376780308 | |||
3 | g.77650038A>G | CA77534861 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.77650039G>A | CA2756900208 | |||
3 | g.77650041A= | CA1376780309 | |||
3 | g.77650041A>G | CA1376780310 | dbSNP | ||
3 | g.77650044C>A | CA2666590468 | gnomAD v4 | ||
3 | g.77650047C= | CA1376780311 | |||
3 | g.77650047C>G | CA77534863 | dbSNP | ||
3 | g.77650048A= | CA1376780312 | |||
3 | g.77650048A>G | CA1376780313 | dbSNP | ||
3 | g.77650051A>C | CA2703234215 | dbSNP |