Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.83407150_83407158del | CA2715075576 | SEMA3E | c.577_585del (p.Leu193_Ala195del) c.757_765del (p.Leu253_Ala255del) n.742_750del n.320_328del | dbSNP |
7 | g.83407155G>A | CA4322224 | SEMA3E | c.575C>T (p.Ala192Val) c.755C>T (p.Ala252Val) n.740C>T n.318C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.83407155G>C | CA367930268 | SEMA3E | c.575C>G (p.Ala192Gly) c.755C>G (p.Ala252Gly) n.740C>G n.318C>G | |
7 | g.83407155G= | CA1721679514 | SEMA3E | c.575C= (p.Ala192=) c.755C= (p.Ala252=) n.740C= n.318C= | |
7 | g.83407155G>T | CA367930269 | SEMA3E | c.575C>A (p.Ala192Glu) c.755C>A (p.Ala252Glu) n.740C>A n.318C>A | |
7 | g.83407156C>A | CA4322225 | SEMA3E | c.574G>T (p.Ala192Ser) c.754G>T (p.Ala252Ser) n.739G>T n.317G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.83407156C= | CA1721679515 | SEMA3E | c.574G= (p.Ala192=) c.754G= (p.Ala252=) n.739G= n.317G= | |
7 | g.83407156C>G | CA367930271 | SEMA3E | c.574G>C (p.Ala192Pro) c.754G>C (p.Ala252Pro) n.739G>C n.317G>C | |
7 | g.83407156C>T | CA367930270 | SEMA3E | c.574G>A (p.Ala192Thr) c.754G>A (p.Ala252Thr) n.739G>A n.317G>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.83407157C>A | CA367930272 | SEMA3E | c.573G>T (p.Lys191Asn) c.753G>T (p.Lys251Asn) n.738G>T n.316G>T | |
7 | g.83407157C= | CA1721679516 | SEMA3E | c.573G= (p.Lys191=) c.753G= (p.Lys251=) n.738G= n.316G= | |
7 | g.83407157C>G | CA367930273 | SEMA3E | c.573G>C (p.Lys191Asn) c.753G>C (p.Lys251Asn) n.738G>C n.316G>C | |
7 | g.83407157C>T | CA456135820 | SEMA3E | c.573G>A (p.Lys191=) c.753G>A (p.Lys251=) n.738G>A n.316G>A | dbSNP gnomAD v2 |
7 | g.83407158T>A | CA367930274 | SEMA3E | c.572A>T (p.Lys191Met) c.752A>T (p.Lys251Met) n.737A>T n.315A>T | |
7 | g.83407158T>C | CA367930275 | SEMA3E | c.572A>G (p.Lys191Arg) c.752A>G (p.Lys251Arg) n.737A>G n.315A>G | |
7 | g.83407158T>G | CA367930276 | SEMA3E | c.572A>C (p.Lys191Thr) c.752A>C (p.Lys251Thr) n.737A>C n.315A>C | |
7 | g.83407159T>A | CA367930277 | SEMA3E | c.571A>T (p.Lys191Ter) c.751A>T (p.Lys251Ter) n.736A>T n.314A>T | dbSNP |
7 | g.83407159T>C | CA367930278 | SEMA3E | c.571A>G (p.Lys191Glu) c.751A>G (p.Lys251Glu) n.736A>G n.314A>G | |
7 | g.83407159T>G | CA367930279 | SEMA3E | c.571A>C (p.Lys191Gln) c.751A>C (p.Lys251Gln) n.736A>C n.314A>C | |
7 | g.83407160C>A | CA367930280 | SEMA3E | c.570G>T (p.Glu190Asp) c.750G>T (p.Glu250Asp) n.735G>T n.313G>T | |
7 | g.83407160C= | CA1721679517 | SEMA3E | c.570G= (p.Glu190=) c.750G= (p.Glu250=) n.735G= n.313G= | |
7 | g.83407160C>G | CA367930281 | SEMA3E | c.570G>C (p.Glu190Asp) c.750G>C (p.Glu250Asp) n.735G>C n.313G>C | |
7 | g.83407160C>T | CA456135832 | SEMA3E | c.570G>A (p.Glu190=) c.750G>A (p.Glu250=) n.735G>A n.313G>A | dbSNP |
7 | g.83407161T>A | CA367930282 | SEMA3E | c.569A>T (p.Glu190Val) c.749A>T (p.Glu250Val) n.734A>T n.312A>T | |
7 | g.83407161T>C | CA367930283 | SEMA3E | c.569A>G (p.Glu190Gly) c.749A>G (p.Glu250Gly) n.734A>G n.312A>G | |
7 | g.83407161T>G | CA367930284 | SEMA3E | c.569A>C (p.Glu190Ala) c.749A>C (p.Glu250Ala) n.734A>C n.312A>C | |
7 | g.83407162C>A | CA367930286 | SEMA3E | c.568G>T (p.Glu190Ter) c.748G>T (p.Glu250Ter) n.733G>T n.311G>T | |
7 | g.83407162C= | CA1721679518 | SEMA3E | c.568G= (p.Glu190=) c.748G= (p.Glu250=) n.733G= n.311G= | |
7 | g.83407162C>G | CA367930287 | SEMA3E | c.568G>C (p.Glu190Gln) c.748G>C (p.Glu250Gln) n.733G>C n.311G>C | |
7 | g.83407162C>T | CA367930285 | SEMA3E | c.568G>A (p.Glu190Lys) c.748G>A (p.Glu250Lys) n.733G>A n.311G>A | dbSNP gnomAD v4 |
7 | g.83407163A= | CA1721679519 | SEMA3E | c.567T= (p.Thr189=) c.747T= (p.Thr249=) n.732T= n.310T= | |
7 | g.83407163A>C | CA456135841 | SEMA3E | c.567T>G (p.Thr189=) c.747T>G (p.Thr249=) n.732T>G n.310T>G | |
7 | g.83407163A>G | CA456135843 | SEMA3E | c.567T>C (p.Thr189=) c.747T>C (p.Thr249=) n.732T>C n.310T>C | gnomAD v4 |
7 | g.83407163A>T | CA456135845 | SEMA3E | c.567T>A (p.Thr189=) c.747T>A (p.Thr249=) n.732T>A n.310T>A | dbSNP |
7 | g.83407164G>A | CA367930290 | SEMA3E | c.566C>T (p.Thr189Ile) c.746C>T (p.Thr249Ile) n.731C>T n.309C>T | |
7 | g.83407164G>C | CA367930288 | SEMA3E | c.566C>G (p.Thr189Ser) c.746C>G (p.Thr249Ser) n.731C>G n.309C>G | |
7 | g.83407164G>T | CA367930289 | SEMA3E | c.566C>A (p.Thr189Asn) c.746C>A (p.Thr249Asn) n.731C>A n.309C>A | |
7 | g.83407165T>A | CA367930291 | SEMA3E | c.565A>T (p.Thr189Ser) c.745A>T (p.Thr249Ser) n.730A>T n.308A>T | |
7 | g.83407165T>C | CA367930292 | SEMA3E | c.565A>G (p.Thr189Ala) c.745A>G (p.Thr249Ala) n.730A>G n.308A>G | |
7 | g.83407165T>G | CA367930293 | SEMA3E | c.565A>C (p.Thr189Pro) c.745A>C (p.Thr249Pro) n.730A>C n.308A>C | |
7 | g.83407166A= | CA1721679520 | SEMA3E | c.564T= (p.Phe188=) c.744T= (p.Phe248=) n.729T= n.307T= | |
7 | g.83407166A>C | CA367930294 | SEMA3E | c.564T>G (p.Phe188Leu) c.744T>G (p.Phe248Leu) n.729T>G n.307T>G | |
7 | g.83407166A>G | CA456135856 | SEMA3E | c.564T>C (p.Phe188=) c.744T>C (p.Phe248=) n.729T>C n.307T>C | gnomAD v4 |
7 | g.83407166A>T | CA4322226 | SEMA3E | c.564T>A (p.Phe188Leu) c.744T>A (p.Phe248Leu) n.729T>A n.307T>A | dbSNP ExAC gnomAD v2 |
7 | g.83407167A>C | CA367930295 | SEMA3E | c.563T>G (p.Phe188Cys) c.743T>G (p.Phe248Cys) n.728T>G n.306T>G | |
7 | g.83407167A>G | CA367930296 | SEMA3E | c.563T>C (p.Phe188Ser) c.743T>C (p.Phe248Ser) n.728T>C n.306T>C | |
7 | g.83407167A>T | CA367930297 | SEMA3E | c.563T>A (p.Phe188Tyr) c.743T>A (p.Phe248Tyr) n.728T>A n.306T>A | |
7 | g.83407168A>C | CA367930298 | SEMA3E | c.562T>G (p.Phe188Val) c.742T>G (p.Phe248Val) n.727T>G n.305T>G | |
7 | g.83407168A>G | CA367930299 | SEMA3E | c.562T>C (p.Phe188Leu) c.742T>C (p.Phe248Leu) n.727T>C n.305T>C | |
7 | g.83407168A>T | CA367930300 | SEMA3E | c.562T>A (p.Phe188Ile) c.742T>A (p.Phe248Ile) n.727T>A n.305T>A | |
7 | g.83407169A>C | CA367930302 | SEMA3E | c.561T>G (p.Phe187Leu) c.741T>G (p.Phe247Leu) n.726T>G n.304T>G | |
7 | g.83407169A>G | CA456135867 | SEMA3E | c.561T>C (p.Phe187=) c.741T>C (p.Phe247=) n.726T>C n.304T>C | |
7 | g.83407169A>T | CA367930301 | SEMA3E | c.561T>A (p.Phe187Leu) c.741T>A (p.Phe247Leu) n.726T>A n.304T>A | |
7 | g.83407170A>C | CA367930303 | SEMA3E | c.560T>G (p.Phe187Cys) c.740T>G (p.Phe247Cys) n.725T>G n.303T>G | |
7 | g.83407170A>G | CA367930304 | SEMA3E | c.560T>C (p.Phe187Ser) c.740T>C (p.Phe247Ser) n.725T>C n.303T>C | |
7 | g.83407170A>T | CA367930305 | SEMA3E | c.560T>A (p.Phe187Tyr) c.740T>A (p.Phe247Tyr) n.725T>A n.303T>A | |
7 | g.83407171A= | CA1721679521 | SEMA3E | c.559T= (p.Phe187=) c.739T= (p.Phe247=) n.724T= n.302T= | |
7 | g.83407171A>C | CA4322227 | SEMA3E | c.559T>G (p.Phe187Val) c.739T>G (p.Phe247Val) n.724T>G n.302T>G | ClinVar dbSNP ExAC gnomAD v2 |
7 | g.83407171A>G | CA367930306 | SEMA3E | c.559T>C (p.Phe187Leu) c.739T>C (p.Phe247Leu) n.724T>C n.302T>C | |
7 | g.83407171A>T | CA367930307 | SEMA3E | c.559T>A (p.Phe187Ile) c.739T>A (p.Phe247Ile) n.724T>A n.302T>A | |
7 | g.83407172del | CA2683557410 | SEMA3E | c.558del (p.Phe188LeufsTer24) c.738del (p.Phe248LeufsTer24) n.723del n.301del | gnomAD v4 |
7 | g.83407172G>A | CA456135880 | SEMA3E | c.558C>T (p.Phe186=) c.738C>T (p.Phe246=) n.723C>T n.301C>T | gnomAD v4 |
7 | g.83407172G>C | CA367930308 | SEMA3E | c.558C>G (p.Phe186Leu) c.738C>G (p.Phe246Leu) n.723C>G n.301C>G | COSMIC |
7 | g.83407172G= | CA1721679522 | SEMA3E | c.558C= (p.Phe186=) c.738C= (p.Phe246=) n.723C= n.301C= | |
7 | g.83407172G>T | CA4322228 | SEMA3E | c.558C>A (p.Phe186Leu) c.738C>A (p.Phe246Leu) n.723C>A n.301C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.83407173A>C | CA367930309 | SEMA3E | c.557T>G (p.Phe186Cys) c.737T>G (p.Phe246Cys) n.722T>G n.300T>G | |
7 | g.83407173A>G | CA367930310 | SEMA3E | c.557T>C (p.Phe186Ser) c.737T>C (p.Phe246Ser) n.722T>C n.300T>C | |
7 | g.83407173A>T | CA367930311 | SEMA3E | c.557T>A (p.Phe186Tyr) c.737T>A (p.Phe246Tyr) n.722T>A n.300T>A | |
7 | g.83407174A= | CA1721679523 | SEMA3E | c.556T= (p.Phe186=) c.736T= (p.Phe246=) n.721T= n.299T= | |
7 | g.83407174A>C | CA367930312 | SEMA3E | c.556T>G (p.Phe186Val) c.736T>G (p.Phe246Val) n.721T>G n.299T>G | |
7 | g.83407174A>G | CA367930313 | SEMA3E | c.556T>C (p.Phe186Leu) c.736T>C (p.Phe246Leu) n.721T>C n.299T>C | |
7 | g.83407174A>T | CA367930314 | SEMA3E | c.556T>A (p.Phe186Ile) c.736T>A (p.Phe246Ile) n.721T>A n.299T>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.83407175A= | CA1721679524 | SEMA3E | c.555T= (p.Tyr185=) c.735T= (p.Tyr245=) n.720T= n.298T= | |
7 | g.83407175A>C | CA367930315 | SEMA3E | c.555T>G (p.Tyr185Ter) c.735T>G (p.Tyr245Ter) n.720T>G n.298T>G | |
7 | g.83407175A>G | CA456135889 | SEMA3E | c.555T>C (p.Tyr185=) c.735T>C (p.Tyr245=) n.720T>C n.298T>C | dbSNP |
7 | g.83407175A>T | CA367930316 | SEMA3E | c.555T>A (p.Tyr185Ter) c.735T>A (p.Tyr245Ter) n.720T>A n.298T>A | |
7 | g.83407175_83407176insCCAAACACACCCAACACA | CA2776732712 | SEMA3E | c.555_556insGTGTTGGGTGTGTTTGGT (p.Tyr185_Phe186insValLeuGlyValPheGly) c.735_736insGTGTTGGGTGTGTTTGGT (p.Tyr245_Phe246insValLeuGlyValPheGly) n.720_721insGTGTTGGGTGTGTTTGGT n.298_299insGTGTTGGGTGTGTTTGGT | |
7 | g.83407176T>A | CA367930317 | SEMA3E | c.554A>T (p.Tyr185Phe) c.734A>T (p.Tyr245Phe) n.719A>T n.297A>T | |
7 | g.83407176T>C | CA367930318 | SEMA3E | c.554A>G (p.Tyr185Cys) c.734A>G (p.Tyr245Cys) n.719A>G n.297A>G | dbSNP |
7 | g.83407176T>G | CA367930319 | SEMA3E | c.554A>C (p.Tyr185Ser) c.734A>C (p.Tyr245Ser) n.719A>C n.297A>C | |
7 | g.83407176T= | CA1721679525 | SEMA3E | c.554A= (p.Tyr185=) c.734A= (p.Tyr245=) n.719A= n.297A= | |
7 | g.83407177A>C | CA367930320 | SEMA3E | c.553T>G (p.Tyr185Asp) c.733T>G (p.Tyr245Asp) n.718T>G n.296T>G | ClinVar dbSNP gnomAD v4 |
7 | g.83407177A>G | CA367930321 | SEMA3E | c.553T>C (p.Tyr185His) c.733T>C (p.Tyr245His) n.718T>C n.296T>C | |
7 | g.83407177A>T | CA367930322 | SEMA3E | c.553T>A (p.Tyr185Asn) c.733T>A (p.Tyr245Asn) n.718T>A n.296T>A | |
7 | g.83407178T>A | CA456135900 | SEMA3E | c.552A>T (p.Val184=) c.732A>T (p.Val244=) n.717A>T n.295A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.83407178T>C | CA4322229 | SEMA3E | c.552A>G (p.Val184=) c.732A>G (p.Val244=) n.717A>G n.295A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.83407178T>G | CA456135901 | SEMA3E | c.552A>C (p.Val184=) c.732A>C (p.Val244=) n.717A>C n.295A>C | |
7 | g.83407178T= | CA1721679526 | SEMA3E | c.552A= (p.Val184=) c.732A= (p.Val244=) n.717A= n.295A= | |
7 | g.83407179A>C | CA367930325 | SEMA3E | c.551T>G (p.Val184Gly) c.731T>G (p.Val244Gly) n.716T>G n.294T>G | |
7 | g.83407179A>G | CA367930323 | SEMA3E | c.551T>C (p.Val184Ala) c.731T>C (p.Val244Ala) n.716T>C n.294T>C | |
7 | g.83407179A>T | CA367930324 | SEMA3E | c.551T>A (p.Val184Glu) c.731T>A (p.Val244Glu) n.716T>A n.294T>A | |
7 | g.83407180C>A | CA367930326 | SEMA3E | c.550G>T (p.Val184Leu) c.730G>T (p.Val244Leu) n.715G>T n.293G>T | |
7 | g.83407180C>G | CA367930327 | SEMA3E | c.550G>C (p.Val184Leu) c.730G>C (p.Val244Leu) n.715G>C n.293G>C | |
7 | g.83407180C>T | CA367930328 | SEMA3E | c.550G>A (p.Val184Ile) c.730G>A (p.Val244Ile) n.715G>A n.293G>A | COSMIC |
7 | g.83407181T>A | CA367930329 | SEMA3E | c.549A>T (p.Lys183Asn) c.729A>T (p.Lys243Asn) n.714A>T n.292A>T | |
7 | g.83407181T>C | CA456135912 | SEMA3E | c.549A>G (p.Lys183=) c.729A>G (p.Lys243=) n.714A>G n.292A>G | |
7 | g.83407181T>G | CA367930330 | SEMA3E | c.549A>C (p.Lys183Asn) c.729A>C (p.Lys243Asn) n.714A>C n.292A>C | |
7 | g.83407182T>A | CA367930331 | SEMA3E | c.548A>T (p.Lys183Ile) c.728A>T (p.Lys243Ile) n.713A>T n.291A>T | gnomAD v4 |
7 | g.83407182T>C | CA367930333 | SEMA3E | c.548A>G (p.Lys183Arg) c.728A>G (p.Lys243Arg) n.713A>G n.291A>G | gnomAD v4 |
7 | g.83407182T>G | CA367930332 | SEMA3E | c.548A>C (p.Lys183Thr) c.728A>C (p.Lys243Thr) n.713A>C n.291A>C | gnomAD v4 |
7 | g.83407183T>A | CA367930334 | SEMA3E | c.547A>T (p.Lys183Ter) c.727A>T (p.Lys243Ter) n.712A>T n.290A>T | |
7 | g.83407183T>C | CA367930335 | SEMA3E | c.547A>G (p.Lys183Glu) c.727A>G (p.Lys243Glu) n.712A>G n.290A>G | |
7 | g.83407183T>G | CA367930336 | SEMA3E | c.547A>C (p.Lys183Gln) c.727A>C (p.Lys243Gln) n.712A>C n.290A>C | |
7 | g.83407183T= | CA1721679527 | SEMA3E | c.547A= (p.Lys183=) c.727A= (p.Lys243=) n.712A= n.290A= | |
7 | g.83407183_83407184insTAAATATTTTCTA | CA575817081 | SEMA3E | c.546_547insTAGAAAATATTTA (p.Lys183Ter) c.726_727insTAGAAAATATTTA (p.Lys243Ter) n.711_712insTAGAAAATATTTA n.289_290insTAGAAAATATTTA | dbSNP gnomAD v2 |
7 | g.83407184G>A | CA4322230 | SEMA3E | c.546C>T (p.Asn182=) c.726C>T (p.Asn242=) n.711C>T n.289C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.83407184G>C | CA367930337 | SEMA3E | c.546C>G (p.Asn182Lys) c.726C>G (p.Asn242Lys) n.711C>G n.289C>G | gnomAD v4 |
7 | g.83407184G= | CA1721679528 | SEMA3E | c.546C= (p.Asn182=) c.726C= (p.Asn242=) n.711C= n.289C= | |
7 | g.83407184G>T | CA367930338 | SEMA3E | c.546C>A (p.Asn182Lys) c.726C>A (p.Asn242Lys) n.711C>A n.289C>A | |
7 | g.83407185T>A | CA367930339 | SEMA3E | c.545A>T (p.Asn182Ile) c.725A>T (p.Asn242Ile) n.710A>T n.288A>T | |
7 | g.83407185T>C | CA367930340 | SEMA3E | c.545A>G (p.Asn182Ser) c.725A>G (p.Asn242Ser) n.710A>G n.288A>G | |
7 | g.83407185T>G | CA367930341 | SEMA3E | c.545A>C (p.Asn182Thr) c.725A>C (p.Asn242Thr) n.710A>C n.288A>C | |
7 | g.83407186T>A | CA367930342 | SEMA3E | c.544A>T (p.Asn182Tyr) c.724A>T (p.Asn242Tyr) n.709A>T n.287A>T | |
7 | g.83407186T>C | CA367930343 | SEMA3E | c.544A>G (p.Asn182Asp) c.724A>G (p.Asn242Asp) n.709A>G n.287A>G | |
7 | g.83407186T>G | CA367930344 | SEMA3E | c.544A>C (p.Asn182His) c.724A>C (p.Asn242His) n.709A>C n.287A>C | |
7 | g.83407187G>A | CA456135932 | SEMA3E | c.543C>T (p.Asp181=) c.723C>T (p.Asp241=) n.708C>T n.286C>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.83407187G>C | CA367930345 | SEMA3E | c.543C>G (p.Asp181Glu) c.723C>G (p.Asp241Glu) n.708C>G n.286C>G | |
7 | g.83407187G= | CA1721679529 | SEMA3E | c.543C= (p.Asp181=) c.723C= (p.Asp241=) n.708C= n.286C= | |
7 | g.83407187G>T | CA367930346 | SEMA3E | c.543C>A (p.Asp181Glu) c.723C>A (p.Asp241Glu) n.708C>A n.286C>A | dbSNP |
7 | g.83407188T>A | CA367930347 | SEMA3E | c.542A>T (p.Asp181Val) c.722A>T (p.Asp241Val) n.707A>T n.285A>T | |
7 | g.83407188T>C | CA367930349 | SEMA3E | c.542A>G (p.Asp181Gly) c.722A>G (p.Asp241Gly) n.707A>G n.285A>G | |
7 | g.83407188T>G | CA367930348 | SEMA3E | c.542A>C (p.Asp181Ala) c.722A>C (p.Asp241Ala) n.707A>C n.285A>C | |
7 | g.83407189C>A | CA367930350 | SEMA3E | c.541G>T (p.Asp181Tyr) c.721G>T (p.Asp241Tyr) n.706G>T n.284G>T | |
7 | g.83407189C>G | CA367930352 | SEMA3E | c.541G>C (p.Asp181His) c.721G>C (p.Asp241His) n.706G>C n.284G>C | |
7 | g.83407189C>T | CA367930351 | SEMA3E | c.541G>A (p.Asp181Asn) c.721G>A (p.Asp241Asn) n.706G>A n.284G>A | |
7 | g.83407190A>C | CA367930353 | SEMA3E | c.540T>G (p.Asp180Glu) c.720T>G (p.Asp240Glu) n.705T>G n.283T>G | ClinVar |
7 | g.83407190A>G | CA456135942 | SEMA3E | c.540T>C (p.Asp180=) c.720T>C (p.Asp240=) n.705T>C n.283T>C | gnomAD v4 |
7 | g.83407190A>T | CA367930354 | SEMA3E | c.540T>A (p.Asp180Glu) c.720T>A (p.Asp240Glu) n.705T>A n.283T>A | |
7 | g.83407191T>A | CA367930355 | SEMA3E | c.539A>T (p.Asp180Val) c.719A>T (p.Asp240Val) n.704A>T n.282A>T | |
7 | g.83407191T>C | CA367930356 | SEMA3E | c.539A>G (p.Asp180Gly) c.719A>G (p.Asp240Gly) n.704A>G n.282A>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.83407191T>G | CA367930357 | SEMA3E | c.539A>C (p.Asp180Ala) c.719A>C (p.Asp240Ala) n.704A>C n.282A>C | |
7 | g.83407191T= | CA1721679530 | SEMA3E | c.539A= (p.Asp180=) c.719A= (p.Asp240=) n.704A= n.282A= | |
7 | g.83407192C>A | CA4322231 | SEMA3E | c.538G>T (p.Asp180Tyr) c.718G>T (p.Asp240Tyr) n.703G>T n.281G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.83407192C= | CA1721679531 | SEMA3E | c.538G= (p.Asp180=) c.718G= (p.Asp240=) n.703G= n.281G= | |
7 | g.83407192C>G | CA367930358 | SEMA3E | c.538G>C (p.Asp180His) c.718G>C (p.Asp240His) n.703G>C n.281G>C | |
7 | g.83407192C>T | CA367930359 | SEMA3E | c.538G>A (p.Asp180Asn) c.718G>A (p.Asp240Asn) n.703G>A n.281G>A | |
7 | g.83407193T>A | CA367930360 | SEMA3E | c.537A>T (p.Arg179Ser) c.717A>T (p.Arg239Ser) n.702A>T n.280A>T | |
7 | g.83407193T>C | CA4322232 | SEMA3E | c.537A>G (p.Arg179=) c.717A>G (p.Arg239=) n.702A>G n.280A>G | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
7 | g.83407193T>G | CA367930361 | SEMA3E | c.537A>C (p.Arg179Ser) c.717A>C (p.Arg239Ser) n.702A>C n.280A>C | |
7 | g.83407193T= | CA1721679532 | SEMA3E | c.537A= (p.Arg179=) c.717A= (p.Arg239=) n.702A= n.280A= | |
7 | g.83407194C>A | CA367930362 | SEMA3E | c.536G>T (p.Arg179Ile) c.716G>T (p.Arg239Ile) n.701G>T n.279G>T | |
7 | g.83407194C= | CA1721679533 | SEMA3E | c.536G= (p.Arg179=) c.716G= (p.Arg239=) n.701G= n.279G= | |
7 | g.83407194C>G | CA367930363 | SEMA3E | c.536G>C (p.Arg179Thr) c.716G>C (p.Arg239Thr) n.701G>C n.279G>C | ClinVar dbSNP gnomAD v4 |
7 | g.83407194C>T | CA367930364 | SEMA3E | c.536G>A (p.Arg179Lys) c.716G>A (p.Arg239Lys) n.701G>A n.279G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.83407195T>A | CA367930366 | SEMA3E | c.535A>T (p.Arg179Ter) c.715A>T (p.Arg239Ter) n.700A>T n.278A>T | |
7 | g.83407195T>C | CA367930365 | SEMA3E | c.535A>G (p.Arg179Gly) c.715A>G (p.Arg239Gly) n.700A>G n.278A>G | dbSNP gnomAD v3 gnomAD v4 |
7 | g.83407195T>G | CA456135961 | SEMA3E | c.535A>C (p.Arg179=) c.715A>C (p.Arg239=) n.700A>C n.278A>C | |
7 | g.83407195T= | CA1721679534 | SEMA3E | c.535A= (p.Arg179=) c.715A= (p.Arg239=) n.700A= n.278A= | |
7 | g.83407196G>A | CA4322233 | SEMA3E | c.534C>T (p.Asp178=) c.714C>T (p.Asp238=) n.699C>T n.277C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.83407196G>C | CA367930367 | SEMA3E | c.534C>G (p.Asp178Glu) c.714C>G (p.Asp238Glu) n.699C>G n.277C>G | |
7 | g.83407196G= | CA1721679535 | SEMA3E | c.534C= (p.Asp178=) c.714C= (p.Asp238=) n.699C= n.277C= | |
7 | g.83407196G>T | CA367930368 | SEMA3E | c.534C>A (p.Asp178Glu) c.714C>A (p.Asp238Glu) n.699C>A n.277C>A | |
7 | g.83407197T>A | CA367930369 | SEMA3E | c.533A>T (p.Asp178Val) c.713A>T (p.Asp238Val) n.698A>T n.276A>T | |
7 | g.83407197T>C | CA367930370 | SEMA3E | c.533A>G (p.Asp178Gly) c.713A>G (p.Asp238Gly) n.698A>G n.276A>G | ClinVar dbSNP gnomAD v4 |
7 | g.83407197T>G | CA367930371 | SEMA3E | c.533A>C (p.Asp178Ala) c.713A>C (p.Asp238Ala) n.698A>C n.276A>C | |
7 | g.83407197T= | CA1721679536 | SEMA3E | c.533A= (p.Asp178=) c.713A= (p.Asp238=) n.698A= n.276A= | |
7 | g.83407198C>A | CA367930372 | SEMA3E | c.532G>T (p.Asp178Tyr) c.712G>T (p.Asp238Tyr) n.697G>T n.275G>T | gnomAD v4 |
7 | g.83407198C>G | CA367930373 | SEMA3E | c.532G>C (p.Asp178His) c.712G>C (p.Asp238His) n.697G>C n.275G>C | |
7 | g.83407198C>T | CA367930374 | SEMA3E | c.532G>A (p.Asp178Asn) c.712G>A (p.Asp238Asn) n.697G>A n.275G>A | |
7 | g.83407199T>A | CA367930375 | SEMA3E | c.531A>T (p.Glu177Asp) c.711A>T (p.Glu237Asp) n.696A>T n.274A>T | |
7 | g.83407199T>C | CA456135975 | SEMA3E | c.531A>G (p.Glu177=) c.711A>G (p.Glu237=) n.696A>G n.274A>G | |
7 | g.83407199T>G | CA367930376 | SEMA3E | c.531A>C (p.Glu177Asp) c.711A>C (p.Glu237Asp) n.696A>C n.274A>C | |
7 | g.83407200T>A | CA367930379 | SEMA3E | c.530A>T (p.Glu177Val) c.710A>T (p.Glu237Val) n.695A>T n.273A>T | |
7 | g.83407200T>C | CA367930378 | SEMA3E | c.530A>G (p.Glu177Gly) c.710A>G (p.Glu237Gly) n.695A>G n.273A>G | |
7 | g.83407200T>G | CA367930377 | SEMA3E | c.530A>C (p.Glu177Ala) c.710A>C (p.Glu237Ala) n.695A>C n.273A>C | |
7 | g.83407201C>A | CA367930380 | SEMA3E | c.529G>T (p.Glu177Ter) c.709G>T (p.Glu237Ter) n.694G>T n.272G>T | |
7 | g.83407201C>G | CA367930381 | SEMA3E | c.529G>C (p.Glu177Gln) c.709G>C (p.Glu237Gln) n.694G>C n.272G>C | |
7 | g.83407201C>T | CA367930382 | SEMA3E | c.529G>A (p.Glu177Lys) c.709G>A (p.Glu237Lys) n.694G>A n.272G>A | gnomAD v4 |
7 | g.83407202A= | CA1721679537 | SEMA3E | c.528T= (p.Asn176=) c.708T= (p.Asn236=) n.693T= n.271T= | |
7 | g.83407202A>C | CA367930383 | SEMA3E | c.528T>G (p.Asn176Lys) c.708T>G (p.Asn236Lys) n.693T>G n.271T>G | |
7 | g.83407202A>G | CA456135983 | SEMA3E | c.528T>C (p.Asn176=) c.708T>C (p.Asn236=) n.693T>C n.271T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.83407202A>T | CA367930384 | SEMA3E | c.528T>A (p.Asn176Lys) c.708T>A (p.Asn236Lys) n.693T>A n.271T>A | |
7 | g.83407203T>A | CA4322235 | SEMA3E | c.527A>T (p.Asn176Ile) c.707A>T (p.Asn236Ile) n.692A>T n.270A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.83407203T>C | CA4322234 | SEMA3E | c.527A>G (p.Asn176Ser) c.707A>G (p.Asn236Ser) n.692A>G n.270A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.83407203T>G | CA367930385 | SEMA3E | c.527A>C (p.Asn176Thr) c.707A>C (p.Asn236Thr) n.692A>C n.270A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.83407203T= | CA1721679538 | SEMA3E | c.527A= (p.Asn176=) c.707A= (p.Asn236=) n.692A= n.270A= | |
7 | g.83407204T>A | CA367930386 | SEMA3E | c.526A>T (p.Asn176Tyr) c.706A>T (p.Asn236Tyr) n.691A>T n.269A>T | |
7 | g.83407204T>C | CA367930387 | SEMA3E | c.526A>G (p.Asn176Asp) c.706A>G (p.Asn236Asp) n.691A>G n.269A>G | |
7 | g.83407204T>G | CA367930388 | SEMA3E | c.526A>C (p.Asn176His) c.706A>C (p.Asn236His) n.691A>C n.269A>C | |
7 | g.83407205G>A | CA456135993 | SEMA3E | c.525C>T (p.Asp175=) c.705C>T (p.Asp235=) n.690C>T n.268C>T | dbSNP |
7 | g.83407205G>C | CA367930389 | SEMA3E | c.525C>G (p.Asp175Glu) c.705C>G (p.Asp235Glu) n.690C>G n.268C>G | |
7 | g.83407205G= | CA1721679539 | SEMA3E | c.525C= (p.Asp175=) c.705C= (p.Asp235=) n.690C= n.268C= | |
7 | g.83407205G>T | CA367930390 | SEMA3E | c.525C>A (p.Asp175Glu) c.705C>A (p.Asp235Glu) n.690C>A n.268C>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.83407206T>A | CA367930391 | SEMA3E | c.524A>T (p.Asp175Val) c.704A>T (p.Asp235Val) n.689A>T n.267A>T | |
7 | g.83407206T>C | CA367930393 | SEMA3E | c.524A>G (p.Asp175Gly) c.704A>G (p.Asp235Gly) n.689A>G n.267A>G | |
7 | g.83407206T>G | CA367930392 | SEMA3E | c.524A>C (p.Asp175Ala) c.704A>C (p.Asp235Ala) n.689A>C n.267A>C | |
7 | g.83407207C>A | CA367930394 | SEMA3E | c.523G>T (p.Asp175Tyr) c.703G>T (p.Asp235Tyr) n.688G>T n.266G>T | |
7 | g.83407207C>G | CA367930395 | SEMA3E | c.523G>C (p.Asp175His) c.703G>C (p.Asp235His) n.688G>C n.266G>C | |
7 | g.83407207C>T | CA367930396 | SEMA3E | c.523G>A (p.Asp175Asn) c.703G>A (p.Asp235Asn) n.688G>A n.266G>A | |
7 | g.83407208A>C | CA456136004 | SEMA3E | c.522T>G (p.Pro174=) c.702T>G (p.Pro234=) n.687T>G n.265T>G | |
7 | g.83407208A>G | CA456136005 | SEMA3E | c.522T>C (p.Pro174=) c.702T>C (p.Pro234=) n.687T>C n.265T>C | gnomAD v4 |
7 | g.83407208A>T | CA456136006 | SEMA3E | c.522T>A (p.Pro174=) c.702T>A (p.Pro234=) n.687T>A n.265T>A | |
7 | g.83407209G>A | CA367930397 | SEMA3E | c.521C>T (p.Pro174Leu) c.701C>T (p.Pro234Leu) n.686C>T n.264C>T | dbSNP gnomAD v2 |
7 | g.83407209G>C | CA367930398 | SEMA3E | c.521C>G (p.Pro174Arg) c.701C>G (p.Pro234Arg) n.686C>G n.264C>G | |
7 | g.83407209G= | CA1721679540 | SEMA3E | c.521C= (p.Pro174=) c.701C= (p.Pro234=) n.686C= n.264C= | |
7 | g.83407209G>T | CA367930399 | SEMA3E | c.521C>A (p.Pro174His) c.701C>A (p.Pro234His) n.686C>A n.264C>A | |
7 | g.83407210G>A | CA367930400 | SEMA3E | c.520C>T (p.Pro174Ser) c.700C>T (p.Pro234Ser) n.685C>T n.263C>T | |
7 | g.83407210G>C | CA367930401 | SEMA3E | c.520C>G (p.Pro174Ala) c.700C>G (p.Pro234Ala) n.685C>G n.263C>G | |
7 | g.83407210G>T | CA367930402 | SEMA3E | c.520C>A (p.Pro174Thr) c.700C>A (p.Pro234Thr) n.685C>A n.263C>A | |
7 | g.83407211A= | CA1721679541 | SEMA3E | c.519T= (p.Ile173=) c.699T= (p.Ile233=) n.684T= n.262T= | |
7 | g.83407211A>C | CA367930403 | SEMA3E | c.519T>G (p.Ile173Met) c.699T>G (p.Ile233Met) n.684T>G n.262T>G | |
7 | g.83407211A>G | CA456136015 | SEMA3E | c.519T>C (p.Ile173=) c.699T>C (p.Ile233=) n.684T>C n.262T>C | |
7 | g.83407211A>T | CA456136016 | SEMA3E | c.519T>A (p.Ile173=) c.699T>A (p.Ile233=) n.684T>A n.262T>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.83407212A= | CA1721679542 | SEMA3E | c.518T= (p.Ile173=) c.698T= (p.Ile233=) n.683T= n.261T= | |
7 | g.83407212A>C | CA367930405 | SEMA3E | c.518T>G (p.Ile173Ser) c.698T>G (p.Ile233Ser) n.683T>G n.261T>G | gnomAD v4 |
7 | g.83407212A>G | CA367930406 | SEMA3E | c.518T>C (p.Ile173Thr) c.698T>C (p.Ile233Thr) n.683T>C n.261T>C | |
7 | g.83407212A>T | CA367930404 | SEMA3E | c.518T>A (p.Ile173Asn) c.698T>A (p.Ile233Asn) n.683T>A n.261T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.83407213T>A | CA367930409 | SEMA3E | c.517A>T (p.Ile173Phe) c.697A>T (p.Ile233Phe) n.682A>T n.260A>T | |
7 | g.83407213T>C | CA367930407 | SEMA3E | c.517A>G (p.Ile173Val) c.697A>G (p.Ile233Val) n.682A>G n.260A>G | |
7 | g.83407213T>G | CA367930408 | SEMA3E | c.517A>C (p.Ile173Leu) c.697A>C (p.Ile233Leu) n.682A>C n.260A>C | |
7 | g.83407213T= | CA1721679543 | SEMA3E | c.517A= (p.Ile173=) c.697A= (p.Ile233=) n.682A= n.260A= | |
7 | g.83407213_83407214insGA | CA2683557411 | SEMA3E | c.516_517insTC (p.Ile173SerfsTer?) c.696_697insTC (p.Ile233SerfsTer?) n.681_682insTC n.259_260insTC | gnomAD v4 |
7 | g.83407213_83407214insGAC | CA1721679544 | SEMA3E | c.516_517insGTC (p.Met172_Ile173insVal) c.696_697insGTC (p.Met232_Ile233insVal) n.681_682insGTC n.259_260insGTC | dbSNP |
7 | g.83407214C>A | CA367930410 | SEMA3E | c.516G>T (p.Met172Ile) c.696G>T (p.Met232Ile) n.681G>T n.259G>T | dbSNP |
7 | g.83407214C= | CA1721679545 | SEMA3E | c.516G= (p.Met172=) c.696G= (p.Met232=) n.681G= n.259G= | |
7 | g.83407214C>G | CA367930411 | SEMA3E | c.516G>C (p.Met172Ile) c.696G>C (p.Met232Ile) n.681G>C n.259G>C | |
7 | g.83407214C>T | CA367930412 | SEMA3E | c.516G>A (p.Met172Ile) c.696G>A (p.Met232Ile) n.681G>A n.259G>A | COSMIC |
7 | g.83407215A>C | CA367930413 | SEMA3E | c.515T>G (p.Met172Arg) c.695T>G (p.Met232Arg) n.680T>G n.258T>G | |
7 | g.83407215A>G | CA367930414 | SEMA3E | c.515T>C (p.Met172Thr) c.695T>C (p.Met232Thr) n.680T>C n.258T>C | |
7 | g.83407215A>T | CA367930415 | SEMA3E | c.515T>A (p.Met172Lys) c.695T>A (p.Met232Lys) n.680T>A n.258T>A | |
7 | g.83407215dup | CA2683557412 | SEMA3E | c.515dup (p.Met172IlefsTer4) c.695dup (p.Met232IlefsTer4) n.680dup n.258dup | gnomAD v4 |
7 | g.83407216T>A | CA367930416 | SEMA3E | c.514A>T (p.Met172Leu) c.694A>T (p.Met232Leu) n.679A>T n.257A>T | |
7 | g.83407216T>C | CA161171255 | SEMA3E | c.514A>G (p.Met172Val) c.694A>G (p.Met232Val) n.679A>G n.257A>G | dbSNP gnomAD v4 |
7 | g.83407216T>G | CA367930417 | SEMA3E | c.514A>C (p.Met172Leu) c.694A>C (p.Met232Leu) n.679A>C n.257A>C | |
7 | g.83407216T= | CA1721679546 | SEMA3E | c.514A= (p.Met172=) c.694A= (p.Met232=) n.679A= n.257A= | |
7 | g.83407217G>A | CA456136035 | SEMA3E | c.513C>T (p.Tyr171=) c.693C>T (p.Tyr231=) n.678C>T n.256C>T | ClinVar dbSNP |
7 | g.83407217G>C | CA367930418 | SEMA3E | c.513C>G (p.Tyr171Ter) c.693C>G (p.Tyr231Ter) n.678C>G n.256C>G | |
7 | g.83407217G>T | CA367930419 | SEMA3E | c.513C>A (p.Tyr171Ter) c.693C>A (p.Tyr231Ter) n.678C>A n.256C>A | |
7 | g.83407218T>A | CA367930422 | SEMA3E | c.512A>T (p.Tyr171Phe) c.692A>T (p.Tyr231Phe) n.677A>T n.255A>T | |
7 | g.83407218T>C | CA367930420 | SEMA3E | c.512A>G (p.Tyr171Cys) c.692A>G (p.Tyr231Cys) n.677A>G n.255A>G | |
7 | g.83407218T>G | CA367930421 | SEMA3E | c.512A>C (p.Tyr171Ser) c.692A>C (p.Tyr231Ser) n.677A>C n.255A>C | |
7 | g.83407219A= | CA1721679547 | SEMA3E | c.511T= (p.Tyr171=) c.691T= (p.Tyr231=) n.676T= n.254T= | |
7 | g.83407219A>C | CA367930423 | SEMA3E | c.511T>G (p.Tyr171Asp) c.691T>G (p.Tyr231Asp) n.676T>G n.254T>G | |
7 | g.83407219A>G | CA367930424 | SEMA3E | c.511T>C (p.Tyr171His) c.691T>C (p.Tyr231His) n.676T>C n.254T>C | |
7 | g.83407219A>T | CA367930425 | SEMA3E | c.511T>A (p.Tyr171Asn) c.691T>A (p.Tyr231Asn) n.676T>A n.254T>A | dbSNP gnomAD v4 |
7 | g.83407220T>A | CA456136046 | SEMA3E | c.510A>T (p.Ser170=) c.690A>T (p.Ser230=) n.675A>T n.253A>T | |
7 | g.83407220T>C | CA456136044 | SEMA3E | c.510A>G (p.Ser170=) c.690A>G (p.Ser230=) n.675A>G n.253A>G | gnomAD v4 |
7 | g.83407220T>G | CA456136048 | SEMA3E | c.510A>C (p.Ser170=) c.690A>C (p.Ser230=) n.675A>C n.253A>C | |
7 | g.83407221G>A | CA367930426 | SEMA3E | c.509C>T (p.Ser170Leu) c.689C>T (p.Ser230Leu) n.674C>T n.252C>T | |
7 | g.83407221G>C | CA4322236 | SEMA3E | c.509C>G (p.Ser170Ter) c.689C>G (p.Ser230Ter) n.674C>G n.252C>G | dbSNP ExAC gnomAD v2 |
7 | g.83407221G= | CA1721679548 | SEMA3E | c.509C= (p.Ser170=) c.689C= (p.Ser230=) n.674C= n.252C= | |
7 | g.83407221G>T | CA367930427 | SEMA3E | c.509C>A (p.Ser170Ter) c.689C>A (p.Ser230Ter) n.674C>A n.252C>A | |
7 | g.83407222A= | CA1721679549 | SEMA3E | c.508T= (p.Ser170=) c.688T= (p.Ser230=) n.673T= n.251T= | |
7 | g.83407222A>C | CA4322237 | SEMA3E | c.508T>G (p.Ser170Ala) c.688T>G (p.Ser230Ala) n.673T>G n.251T>G | dbSNP ExAC gnomAD v2 COSMIC |
7 | g.83407222A>G | CA367930428 | SEMA3E | c.508T>C (p.Ser170Pro) c.688T>C (p.Ser230Pro) n.673T>C n.251T>C | |
7 | g.83407222A>T | CA367930429 | SEMA3E | c.508T>A (p.Ser170Thr) c.688T>A (p.Ser230Thr) n.673T>A n.251T>A | |
7 | g.83407223A>C | CA456136058 | SEMA3E | c.507T>G (p.Gly169=) c.687T>G (p.Gly229=) n.672T>G n.250T>G | |
7 | g.83407223A>G | CA456136059 | SEMA3E | c.507T>C (p.Gly169=) c.687T>C (p.Gly229=) n.672T>C n.250T>C | |
7 | g.83407223A>T | CA456136061 | SEMA3E | c.507T>A (p.Gly169=) c.687T>A (p.Gly229=) n.672T>A n.250T>A | |
7 | g.83407224C>A | CA367930430 | SEMA3E | c.506G>T (p.Gly169Val) c.686G>T (p.Gly229Val) n.671G>T n.249G>T | gnomAD v4 |
7 | g.83407224C= | CA1721679550 | SEMA3E | c.506G= (p.Gly169=) c.686G= (p.Gly229=) n.671G= n.249G= | |
7 | g.83407224C>G | CA367930431 | SEMA3E | c.506G>C (p.Gly169Ala) c.686G>C (p.Gly229Ala) n.671G>C n.249G>C | |
7 | g.83407224C>T | CA4322238 | SEMA3E | c.506G>A (p.Gly169Asp) c.686G>A (p.Gly229Asp) n.671G>A n.249G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.83407225C>A | CA367930434 | SEMA3E | c.505G>T (p.Gly169Cys) c.685G>T (p.Gly229Cys) n.670G>T n.248G>T | |
7 | g.83407225C>G | CA367930433 | SEMA3E | c.505G>C (p.Gly169Arg) c.685G>C (p.Gly229Arg) n.670G>C n.248G>C | |
7 | g.83407225C>T | CA367930432 | SEMA3E | c.505G>A (p.Gly169Ser) c.685G>A (p.Gly229Ser) n.670G>A n.248G>A | |
7 | g.83407226T>A | CA456136071 | SEMA3E | c.504A>T (p.Val168=) c.684A>T (p.Val228=) n.669A>T n.247A>T | |
7 | g.83407226T>C | CA456136072 | SEMA3E | c.504A>G (p.Val168=) c.684A>G (p.Val228=) n.669A>G n.247A>G | gnomAD v4 |
7 | g.83407226T>G | CA456136074 | SEMA3E | c.504A>C (p.Val168=) c.684A>C (p.Val228=) n.669A>C n.247A>C | |
7 | g.83407227A>C | CA367930435 | SEMA3E | c.503T>G (p.Val168Gly) c.683T>G (p.Val228Gly) n.668T>G n.246T>G | |
7 | g.83407227A>G | CA367930436 | SEMA3E | c.503T>C (p.Val168Ala) c.683T>C (p.Val228Ala) n.668T>C n.246T>C | |
7 | g.83407227A>T | CA367930437 | SEMA3E | c.503T>A (p.Val168Glu) c.683T>A (p.Val228Glu) n.668T>A n.246T>A | |
7 | g.83407228C>A | CA367930438 | SEMA3E | c.502G>T (p.Val168Leu) c.682G>T (p.Val228Leu) n.667G>T n.245G>T | gnomAD v4 |
7 | g.83407228C>G | CA367930439 | SEMA3E | c.502G>C (p.Val168Leu) c.682G>C (p.Val228Leu) n.667G>C n.245G>C | |
7 | g.83407228C>T | CA367930440 | SEMA3E | c.502G>A (p.Val168Ile) c.682G>A (p.Val228Ile) n.667G>A n.245G>A | |
7 | g.83407229A>C | CA367930442 | SEMA3E | c.501T>G (p.Phe167Leu) c.681T>G (p.Phe227Leu) n.666T>G n.244T>G | COSMIC |
7 | g.83407229A>G | CA456136084 | SEMA3E | c.501T>C (p.Phe167=) c.681T>C (p.Phe227=) n.666T>C n.244T>C | |
7 | g.83407229A>T | CA367930441 | SEMA3E | c.501T>A (p.Phe167Leu) c.681T>A (p.Phe227Leu) n.666T>A n.244T>A | |
7 | g.83407230A>C | CA367930443 | SEMA3E | c.500T>G (p.Phe167Cys) c.680T>G (p.Phe227Cys) n.665T>G n.243T>G | |
7 | g.83407230A>G | CA367930444 | SEMA3E | c.500T>C (p.Phe167Ser) c.680T>C (p.Phe227Ser) n.665T>C n.243T>C | |
7 | g.83407230A>T | CA367930445 | SEMA3E | c.500T>A (p.Phe167Tyr) c.680T>A (p.Phe227Tyr) n.665T>A n.243T>A | |
7 | g.83407231A>C | CA367930446 | SEMA3E | c.499T>G (p.Phe167Val) c.679T>G (p.Phe227Val) n.664T>G n.242T>G | |
7 | g.83407231A>G | CA367930447 | SEMA3E | c.499T>C (p.Phe167Leu) c.679T>C (p.Phe227Leu) n.664T>C n.242T>C | |
7 | g.83407231A>T | CA367930448 | SEMA3E | c.499T>A (p.Phe167Ile) c.679T>A (p.Phe227Ile) n.664T>A n.242T>A | |
7 | g.83407232T>A | CA367930449 | SEMA3E | c.498A>T (p.Lys166Asn) c.678A>T (p.Lys226Asn) n.663A>T n.241A>T | |
7 | g.83407232T>C | CA4322239 | SEMA3E | c.498A>G (p.Lys166=) c.678A>G (p.Lys226=) n.663A>G n.241A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.83407232T>G | CA367930450 | SEMA3E | c.498A>C (p.Lys166Asn) c.678A>C (p.Lys226Asn) n.663A>C n.241A>C | |
7 | g.83407232T= | CA1721679551 | SEMA3E | c.498A= (p.Lys166=) c.678A= (p.Lys226=) n.663A= n.241A= | |
7 | g.83407235del | CA2840228701 | SEMA3E | c.498del (p.Lys166AsnfsTer3) c.678del (p.Lys226AsnfsTer3) n.663del n.241del | |
7 | g.83407233T>A | CA367930451 | SEMA3E | c.497A>T (p.Lys166Ile) c.677A>T (p.Lys226Ile) n.662A>T n.240A>T | |
7 | g.83407233T>C | CA367930452 | SEMA3E | c.497A>G (p.Lys166Arg) c.677A>G (p.Lys226Arg) n.662A>G n.240A>G | |
7 | g.83407233T>G | CA367930453 | SEMA3E | c.497A>C (p.Lys166Thr) c.677A>C (p.Lys226Thr) n.662A>C n.240A>C | dbSNP gnomAD v2 gnomAD v4 |
7 | g.83407233T= | CA1721679552 | SEMA3E | c.497A= (p.Lys166=) c.677A= (p.Lys226=) n.662A= n.240A= | |
7 | g.83407234T>A | CA367930454 | SEMA3E | c.496A>T (p.Lys166Ter) c.676A>T (p.Lys226Ter) n.661A>T n.239A>T | |
7 | g.83407234T>C | CA367930455 | SEMA3E | c.496A>G (p.Lys166Glu) c.676A>G (p.Lys226Glu) n.661A>G n.239A>G | |
7 | g.83407234T>G | CA367930456 | SEMA3E | c.496A>C (p.Lys166Gln) c.676A>C (p.Lys226Gln) n.661A>C n.239A>C | |
7 | g.83407235T>A | CA456136105 | SEMA3E | c.495A>T (p.Pro165=) c.675A>T (p.Pro225=) n.660A>T n.238A>T | |
7 | g.83407235T>C | CA456136107 | SEMA3E | c.495A>G (p.Pro165=) c.675A>G (p.Pro225=) n.660A>G n.238A>G | |
7 | g.83407235T>G | CA456136109 | SEMA3E | c.495A>C (p.Pro165=) c.675A>C (p.Pro225=) n.660A>C n.238A>C | gnomAD v4 |
7 | g.83407236G>A | CA367930457 | SEMA3E | c.494C>T (p.Pro165Leu) c.674C>T (p.Pro225Leu) n.659C>T n.237C>T | |
7 | g.83407236G>C | CA367930458 | SEMA3E | c.494C>G (p.Pro165Arg) c.674C>G (p.Pro225Arg) n.659C>G n.237C>G | gnomAD v4 |
7 | g.83407236G>T | CA367930459 | SEMA3E | c.494C>A (p.Pro165Gln) c.674C>A (p.Pro225Gln) n.659C>A n.237C>A | |
7 | g.83407237G>A | CA367930460 | SEMA3E | c.493C>T (p.Pro165Ser) c.673C>T (p.Pro225Ser) n.658C>T n.236C>T | dbSNP COSMIC |
7 | g.83407237G>C | CA367930461 | SEMA3E | c.493C>G (p.Pro165Ala) c.673C>G (p.Pro225Ala) n.658C>G n.236C>G | |
7 | g.83407237G= | CA1721679553 | SEMA3E | c.493C= (p.Pro165=) c.673C= (p.Pro225=) n.658C= n.236C= | |
7 | g.83407237G>T | CA367930462 | SEMA3E | c.493C>A (p.Pro165Thr) c.673C>A (p.Pro225Thr) n.658C>A n.236C>A | COSMIC |
7 | g.83407238T>A | CA367930463 | SEMA3E | c.492A>T (p.Glu164Asp) c.672A>T (p.Glu224Asp) n.657A>T n.235A>T | |
7 | g.83407238T>C | CA456136119 | SEMA3E | c.492A>G (p.Glu164=) c.672A>G (p.Glu224=) n.657A>G n.235A>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.83407238T>G | CA367930464 | SEMA3E | c.492A>C (p.Glu164Asp) c.672A>C (p.Glu224Asp) n.657A>C n.235A>C | |
7 | g.83407238T= | CA1721679554 | SEMA3E | c.492A= (p.Glu164=) c.672A= (p.Glu224=) n.657A= n.235A= | |
7 | g.83407239T>A | CA367930465 | SEMA3E | c.491A>T (p.Glu164Val) c.671A>T (p.Glu224Val) n.656A>T n.234A>T | |
7 | g.83407239T>C | CA367930467 | SEMA3E | c.491A>G (p.Glu164Gly) c.671A>G (p.Glu224Gly) n.656A>G n.234A>G | |
7 | g.83407239T>G | CA367930466 | SEMA3E | c.491A>C (p.Glu164Ala) c.671A>C (p.Glu224Ala) n.656A>C n.234A>C | |
7 | g.83407240C>A | CA367930468 | SEMA3E | c.491-1G>T (n.491-1G>T) c.671-1G>T (n.671-1G>T) n.656-1G>T n.234-1G>T | |
7 | g.83407240C= | CA1721679555 | SEMA3E | c.491-1G= (n.491-1G=) c.671-1G= (n.671-1G=) n.656-1G= n.234-1G= | |
7 | g.83407240C>G | CA367930470 | SEMA3E | c.491-1G>C (n.491-1G>C) c.671-1G>C (n.671-1G>C) n.656-1G>C n.234-1G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.83407240C>T | CA367930469 | SEMA3E | c.491-1G>A (n.491-1G>A) c.671-1G>A (n.671-1G>A) n.656-1G>A n.234-1G>A | |
7 | g.83407241T>A | CA367930471 | SEMA3E | c.491-2A>T (n.491-2A>T) c.671-2A>T (n.671-2A>T) n.656-2A>T n.234-2A>T | |
7 | g.83407241T>C | CA4322240 | SEMA3E | c.491-2A>G (n.491-2A>G) c.671-2A>G (n.671-2A>G) n.656-2A>G n.234-2A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.83407241T>G | CA367930472 | SEMA3E | c.491-2A>C (n.491-2A>C) c.671-2A>C (n.671-2A>C) n.656-2A>C n.234-2A>C | |
7 | g.83407241T= | CA1721679556 | SEMA3E | c.491-2A= (n.491-2A=) c.671-2A= (n.671-2A=) n.656-2A= n.234-2A= | |
7 | g.83407241_83407254delinsTATAGGAGCAAAAA | CA1721679557 | SEMA3E | c.491-15_491-2delinsTTTTTGCTCCTATA (n.491-15_491-2delinsTTTTTGCTCCTATA) c.671-15_671-2delinsTTTTTGCTCCTATA (n.671-15_671-2delinsTTTTTGCTCCTATA) n.656-15_656-2delinsTTTTTGCTCCTATA n.234-15_234-2delinsTTTTTGCTCCTATA | |
7 | g.83407242A= | CA1721679558 | SEMA3E | c.491-3T= (n.491-3T=) c.671-3T= (n.671-3T=) n.656-3T= n.234-3T= | |
7 | g.83407242A>G | CA456136137 | SEMA3E | c.491-3T>C (n.491-3T>C) c.671-3T>C (n.671-3T>C) n.656-3T>C n.234-3T>C | dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.83407242A>T | CA2683557413 | SEMA3E | c.491-3T>A (n.491-3T>A) c.671-3T>A (n.671-3T>A) n.656-3T>A n.234-3T>A | gnomAD v4 |
7 | g.83407249_83407261del | CA4322241 | SEMA3E | c.491-15_491-3del (n.491-15_491-3del) c.671-15_671-3del (n.671-15_671-3del) n.656-15_656-3del n.234-15_234-3del | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.83407243T>A | CA2776732729 | SEMA3E | c.491-4A>T (n.491-4A>T) c.671-4A>T (n.671-4A>T) n.656-4A>T n.234-4A>T | |
7 | g.83407243T>C | CA575817127 | SEMA3E | c.491-4A>G (n.491-4A>G) c.671-4A>G (n.671-4A>G) n.656-4A>G n.234-4A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.83407243T= | CA1721679559 | SEMA3E | c.491-4A= (n.491-4A=) c.671-4A= (n.671-4A=) n.656-4A= n.234-4A= | |
7 | g.83407245G>A | CA2776732731 | SEMA3E | c.491-6C>T (n.491-6C>T) c.671-6C>T (n.671-6C>T) n.656-6C>T n.234-6C>T | |
7 | g.83407245G>T | CA2683557414 | SEMA3E | c.491-6C>A (n.491-6C>A) c.671-6C>A (n.671-6C>A) n.656-6C>A n.234-6C>A | gnomAD v4 |
7 | g.83407246G>A | CA575817129 | SEMA3E | c.491-7C>T (n.491-7C>T) c.671-7C>T (n.671-7C>T) n.656-7C>T n.234-7C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.83407246G= | CA1721679560 | SEMA3E | c.491-7C= (n.491-7C=) c.671-7C= (n.671-7C=) n.656-7C= n.234-7C= | |
7 | g.83407246G>T | CA2683557415 | SEMA3E | c.491-7C>A (n.491-7C>A) c.671-7C>A (n.671-7C>A) n.656-7C>A n.234-7C>A | gnomAD v4 |
7 | g.83407247A= | CA1721679561 | SEMA3E | c.491-8T= (n.491-8T=) c.671-8T= (n.671-8T=) n.656-8T= n.234-8T= | |
7 | g.83407247A>G | CA2683557416 | SEMA3E | c.491-8T>C (n.491-8T>C) c.671-8T>C (n.671-8T>C) n.656-8T>C n.234-8T>C | gnomAD v4 |
7 | g.83407247A>T | CA161171264 | SEMA3E | c.491-8T>A (n.491-8T>A) c.671-8T>A (n.671-8T>A) n.656-8T>A n.234-8T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.83407248G>A | CA2683557417 | SEMA3E | c.491-9C>T (n.491-9C>T) c.671-9C>T (n.671-9C>T) n.656-9C>T n.234-9C>T | gnomAD v4 |
7 | g.83407248G>C | CA2840228702 | SEMA3E | c.491-9C>G (n.491-9C>G) c.671-9C>G (n.671-9C>G) n.656-9C>G n.234-9C>G | |
7 | g.83407249C>A | CA575817133 | SEMA3E | c.491-10G>T (n.491-10G>T) c.671-10G>T (n.671-10G>T) n.656-10G>T n.234-10G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.83407249C= | CA1721679562 | SEMA3E | c.491-10G= (n.491-10G=) c.671-10G= (n.671-10G=) n.656-10G= n.234-10G= | |
7 | g.83407249C>T | CA4322242 | SEMA3E | c.491-10G>A (n.491-10G>A) c.671-10G>A (n.671-10G>A) n.656-10G>A n.234-10G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.83407255dup | CA2683557419 | SEMA3E | c.491-11dup (n.491-11dup) c.671-11dup (n.671-11dup) n.656-11dup n.234-11dup | gnomAD v4 |
7 | g.83407255del | CA2683557418 | SEMA3E | c.491-11del (n.491-11del) c.671-11del (n.671-11del) n.656-11del n.234-11del | gnomAD v4 |
7 | g.83407253_83407254insTTTGT | CA2838937861 | SEMA3E | c.491-15_491-14insACAAA (n.491-15_491-14insACAAA) c.671-15_671-14insACAAA (n.671-15_671-14insACAAA) n.656-15_656-14insACAAA n.234-15_234-14insACAAA | |
7 | g.83407254A>G | CA2683557420 | SEMA3E | c.491-15T>C (n.491-15T>C) c.671-15T>C (n.671-15T>C) n.656-15T>C n.234-15T>C | gnomAD v4 |
7 | g.83407254A>T | CA2683557421 | SEMA3E | c.491-15T>A (n.491-15T>A) c.671-15T>A (n.671-15T>A) n.656-15T>A n.234-15T>A | gnomAD v4 |
7 | g.83407255A>G | CA2504626575 | SEMA3E | c.491-16T>C (n.491-16T>C) c.671-16T>C (n.671-16T>C) n.656-16T>C n.234-16T>C | ClinVar gnomAD v4 |