Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.149570109T>A | CA348869286 | MMADHC | c.756A>T (p.Leu252Phe) c.858A>T (p.Leu286Phe) | |
2 | g.149570109T>C | CA429405933 | MMADHC | c.756A>G (p.Leu252=) c.858A>G (p.Leu286=) | |
2 | g.149570109T>G | CA1902271 | MMADHC | c.756A>C (p.Leu252Phe) c.858A>C (p.Leu286Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570109T= | CA1297264323 | MMADHC | c.756A= (p.Leu252=) c.858A= (p.Leu286=) | |
2 | g.149570110A= | CA1297264324 | MMADHC | c.755T= (p.Leu252=) c.857T= (p.Leu286=) | |
2 | g.149570110A>C | CA348869290 | MMADHC | c.755T>G (p.Leu252Ter) c.857T>G (p.Leu286Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.149570110A>G | CA348869291 | MMADHC | c.755T>C (p.Leu252Ser) c.857T>C (p.Leu286Ser) | |
2 | g.149570110A>T | CA348869294 | MMADHC | c.755T>A (p.Leu252Ter) c.857T>A (p.Leu286Ter) | |
2 | g.149570111A>C | CA348869296 | MMADHC | c.754T>G (p.Leu252Val) c.856T>G (p.Leu286Val) | |
2 | g.149570111A>G | CA429405934 | MMADHC | c.754T>C (p.Leu252=) c.856T>C (p.Leu286=) | |
2 | g.149570111A>T | CA348869298 | MMADHC | c.754T>A (p.Leu252Ile) c.856T>A (p.Leu286Ile) | |
2 | g.149570112A>C | CA348869300 | MMADHC | c.753T>G (p.His251Gln) c.855T>G (p.His285Gln) | |
2 | g.149570112A>G | CA429405935 | MMADHC | c.753T>C (p.His251=) c.855T>C (p.His285=) | gnomAD v4 |
2 | g.149570112A>T | CA348869302 | MMADHC | c.753T>A (p.His251Gln) c.855T>A (p.His285Gln) | |
2 | g.149570113T>A | CA348869308 | MMADHC | c.752A>T (p.His251Leu) c.854A>T (p.His285Leu) | |
2 | g.149570113T>C | CA348869307 | MMADHC | c.752A>G (p.His251Arg) c.854A>G (p.His285Arg) | gnomAD v4 |
2 | g.149570113T>G | CA348869304 | MMADHC | c.752A>C (p.His251Pro) c.854A>C (p.His285Pro) | |
2 | g.149570114G>A | CA348869310 | MMADHC | c.751C>T (p.His251Tyr) c.853C>T (p.His285Tyr) | COSMIC |
2 | g.149570114G>C | CA348869312 | MMADHC | c.751C>G (p.His251Asp) c.853C>G (p.His285Asp) | |
2 | g.149570114G>T | CA348869319 | MMADHC | c.751C>A (p.His251Asn) c.853C>A (p.His285Asn) | |
2 | g.149570115T>A | CA429405936 | MMADHC | c.750A>T (p.Arg250=) c.852A>T (p.Arg284=) | |
2 | g.149570115T>C | CA429405937 | MMADHC | c.750A>G (p.Arg250=) c.852A>G (p.Arg284=) | |
2 | g.149570115T>G | CA429405938 | MMADHC | c.750A>C (p.Arg250=) c.852A>C (p.Arg284=) | |
2 | g.149570116C>A | CA348869322 | MMADHC | c.749G>T (p.Arg250Leu) c.851G>T (p.Arg284Leu) | |
2 | g.149570116C= | CA1297264325 | MMADHC | c.749G= (p.Arg250=) c.851G= (p.Arg284=) | |
2 | g.149570116C>G | CA348869324 | MMADHC | c.749G>C (p.Arg250Pro) c.851G>C (p.Arg284Pro) | |
2 | g.149570116C>T | CA1902272 | MMADHC | c.749G>A (p.Arg250Gln) c.851G>A (p.Arg284Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570117G>A | CA251599 | MMADHC | c.748C>T (p.Arg250Ter) c.850C>T (p.Arg284Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.149570117G>C | CA348869329 | MMADHC | c.748C>G (p.Arg250Gly) c.850C>G (p.Arg284Gly) | |
2 | g.149570117G= | CA1297264326 | MMADHC | c.748C= (p.Arg250=) c.850C= (p.Arg284=) | |
2 | g.149570117G>T | CA429405939 | MMADHC | c.748C>A (p.Arg250=) c.850C>A (p.Arg284=) | |
2 | g.149570118G>A | CA429405940 | MMADHC | c.747C>T (p.Tyr249=) c.849C>T (p.Tyr283=) | |
2 | g.149570118G>C | CA348869331 | MMADHC | c.747C>G (p.Tyr249Ter) c.849C>G (p.Tyr283Ter) | |
2 | g.149570118G>T | CA348869333 | MMADHC | c.747C>A (p.Tyr249Ter) c.849C>A (p.Tyr283Ter) | |
2 | g.149570119T>A | CA348869336 | MMADHC | c.746A>T (p.Tyr249Phe) c.848A>T (p.Tyr283Phe) | gnomAD v4 |
2 | g.149570119T>C | CA114488 | MMADHC | c.746A>G (p.Tyr249Cys) c.848A>G (p.Tyr283Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570119T>G | CA348869340 | MMADHC | c.746A>C (p.Tyr249Ser) c.848A>C (p.Tyr283Ser) | |
2 | g.149570119T= | CA1297264327 | MMADHC | c.746A= (p.Tyr249=) c.848A= (p.Tyr283=) | |
2 | g.149570120A= | CA1297264328 | MMADHC | c.745T= (p.Tyr249=) c.847T= (p.Tyr283=) | |
2 | g.149570120A>C | CA58332359 | MMADHC | c.745T>G (p.Tyr249Asp) c.847T>G (p.Tyr283Asp) | dbSNP gnomAD v4 |
2 | g.149570120A>G | CA1902273 | MMADHC | c.745T>C (p.Tyr249His) c.847T>C (p.Tyr283His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.149570120A>T | CA348869342 | MMADHC | c.745T>A (p.Tyr249Asn) c.847T>A (p.Tyr283Asn) | |
2 | g.149570121G>A | CA429405941 | MMADHC | c.744C>T (p.Arg248=) c.846C>T (p.Arg282=) | |
2 | g.149570121G>C | CA429405942 | MMADHC | c.744C>G (p.Arg248=) c.846C>G (p.Arg282=) | |
2 | g.149570121G>T | CA429405943 | MMADHC | c.744C>A (p.Arg248=) c.846C>A (p.Arg282=) | |
2 | g.149570122C>A | CA348869348 | MMADHC | c.743G>T (p.Arg248Leu) c.845G>T (p.Arg282Leu) | |
2 | g.149570122C= | CA1297264329 | MMADHC | c.743G= (p.Arg248=) c.845G= (p.Arg282=) | |
2 | g.149570122C>G | CA348869346 | MMADHC | c.743G>C (p.Arg248Pro) c.845G>C (p.Arg282Pro) | |
2 | g.149570122C>T | CA1902274 | MMADHC | c.743G>A (p.Arg248His) c.845G>A (p.Arg282His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570123G>A | CA1902275 | MMADHC | c.742C>T (p.Arg248Cys) c.844C>T (p.Arg282Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570123G>C | CA348869355 | MMADHC | c.742C>G (p.Arg248Gly) c.844C>G (p.Arg282Gly) | |
2 | g.149570123G= | CA1297264330 | MMADHC | c.742C= (p.Arg248=) c.844C= (p.Arg282=) | |
2 | g.149570123G>T | CA348869352 | MMADHC | c.742C>A (p.Arg248Ser) c.844C>A (p.Arg282Ser) | |
2 | g.149570124T>A | CA348869357 | MMADHC | c.741A>T (p.Glu247Asp) c.843A>T (p.Glu281Asp) | |
2 | g.149570124T>C | CA1902276 | MMADHC | c.741A>G (p.Glu247=) c.843A>G (p.Glu281=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570124T>G | CA348869360 | MMADHC | c.741A>C (p.Glu247Asp) c.843A>C (p.Glu281Asp) | |
2 | g.149570124T= | CA1297264331 | MMADHC | c.741A= (p.Glu247=) c.843A= (p.Glu281=) | |
2 | g.149570125T>A | CA348869364 | MMADHC | c.740A>T (p.Glu247Val) c.842A>T (p.Glu281Val) | |
2 | g.149570125T>C | CA348869366 | MMADHC | c.740A>G (p.Glu247Gly) c.842A>G (p.Glu281Gly) | |
2 | g.149570125T>G | CA348869368 | MMADHC | c.740A>C (p.Glu247Ala) c.842A>C (p.Glu281Ala) | |
2 | g.149570126C>A | CA348869370 | MMADHC | c.739G>T (p.Glu247Ter) c.841G>T (p.Glu281Ter) | ClinVar |
2 | g.149570126C>G | CA348869372 | MMADHC | c.739G>C (p.Glu247Gln) c.841G>C (p.Glu281Gln) | |
2 | g.149570126C>T | CA348869374 | MMADHC | c.739G>A (p.Glu247Lys) c.841G>A (p.Glu281Lys) | gnomAD v4 |
2 | g.149570127A>C | CA348869378 | MMADHC | c.738T>G (p.Asp246Glu) c.840T>G (p.Asp280Glu) | |
2 | g.149570127A>G | CA429405944 | MMADHC | c.738T>C (p.Asp246=) c.840T>C (p.Asp280=) | |
2 | g.149570127A>T | CA348869380 | MMADHC | c.738T>A (p.Asp246Glu) c.840T>A (p.Asp280Glu) | |
2 | g.149570128T>A | CA348869382 | MMADHC | c.737A>T (p.Asp246Val) c.839A>T (p.Asp280Val) | dbSNP |
2 | g.149570128T>C | CA348869383 | MMADHC | c.737A>G (p.Asp246Gly) c.839A>G (p.Asp280Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.149570128T>G | CA348869384 | MMADHC | c.737A>C (p.Asp246Ala) c.839A>C (p.Asp280Ala) | |
2 | g.149570128T= | CA1297264332 | MMADHC | c.737A= (p.Asp246=) c.839A= (p.Asp280=) | |
2 | g.149570129C>A | CA348869385 | MMADHC | c.736G>T (p.Asp246Tyr) c.838G>T (p.Asp280Tyr) | |
2 | g.149570129C= | CA1297264333 | MMADHC | c.736G= (p.Asp246=) c.838G= (p.Asp280=) | |
2 | g.149570129C>G | CA348869386 | MMADHC | c.736G>C (p.Asp246His) c.838G>C (p.Asp280His) | |
2 | g.149570129C>T | CA1902277 | MMADHC | c.736G>A (p.Asp246Asn) c.838G>A (p.Asp280Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570130A= | CA1297264334 | MMADHC | c.735T= (p.Thr245=) c.837T= (p.Thr279=) | |
2 | g.149570130A>C | CA1902278 | MMADHC | c.735T>G (p.Thr245=) c.837T>G (p.Thr279=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570130A>G | CA429405946 | MMADHC | c.735T>C (p.Thr245=) c.837T>C (p.Thr279=) | |
2 | g.149570130A>T | CA429405945 | MMADHC | c.735T>A (p.Thr245=) c.837T>A (p.Thr279=) | |
2 | g.149570131G>A | CA348869387 | MMADHC | c.734C>T (p.Thr245Ile) c.836C>T (p.Thr279Ile) | |
2 | g.149570131G>C | CA348869388 | MMADHC | c.734C>G (p.Thr245Ser) c.836C>G (p.Thr279Ser) | gnomAD v4 |
2 | g.149570131G>T | CA348869389 | MMADHC | c.734C>A (p.Thr245Asn) c.836C>A (p.Thr279Asn) | |
2 | g.149570132T>A | CA348869390 | MMADHC | c.733A>T (p.Thr245Ser) c.835A>T (p.Thr279Ser) | |
2 | g.149570132T>C | CA348869391 | MMADHC | c.733A>G (p.Thr245Ala) c.835A>G (p.Thr279Ala) | |
2 | g.149570132T>G | CA348869392 | MMADHC | c.733A>C (p.Thr245Pro) c.835A>C (p.Thr279Pro) | |
2 | g.149570133T>A | CA348869393 | MMADHC | c.732A>T (p.Glu244Asp) c.834A>T (p.Glu278Asp) | |
2 | g.149570133T>C | CA429405947 | MMADHC | c.732A>G (p.Glu244=) c.834A>G (p.Glu278=) | |
2 | g.149570133T>G | CA348869394 | MMADHC | c.732A>C (p.Glu244Asp) c.834A>C (p.Glu278Asp) | |
2 | g.149570134T>A | CA348869396 | MMADHC | c.731A>T (p.Glu244Val) c.833A>T (p.Glu278Val) | |
2 | g.149570134T>C | CA348869397 | MMADHC | c.731A>G (p.Glu244Gly) c.833A>G (p.Glu278Gly) | |
2 | g.149570134T>G | CA348869395 | MMADHC | c.731A>C (p.Glu244Ala) c.833A>C (p.Glu278Ala) | |
2 | g.149570135C>A | CA348869398 | MMADHC | c.730G>T (p.Glu244Ter) c.832G>T (p.Glu278Ter) | |
2 | g.149570135C= | CA1297264335 | MMADHC | c.730G= (p.Glu244=) c.832G= (p.Glu278=) | |
2 | g.149570135C>G | CA348869399 | MMADHC | c.730G>C (p.Glu244Gln) c.832G>C (p.Glu278Gln) | dbSNP |
2 | g.149570135C>T | CA348869400 | MMADHC | c.730G>A (p.Glu244Lys) c.832G>A (p.Glu278Lys) | |
2 | g.149570135_149570137delinsCAA | CA1297264336 | MMADHC | c.728_730delinsTTG (p.Phe243=) c.830_832delinsTTG (p.Phe277=) | |
2 | g.149570136A>C | CA348869401 | MMADHC | c.729T>G (p.Phe243Leu) c.831T>G (p.Phe277Leu) | |
2 | g.149570136A>G | CA429405948 | MMADHC | c.729T>C (p.Phe243=) c.831T>C (p.Phe277=) | |
2 | g.149570136A>T | CA348869402 | MMADHC | c.729T>A (p.Phe243Leu) c.831T>A (p.Phe277Leu) | |
2 | g.149570140del | CA2661422183 | MMADHC | c.729del (p.Phe243LeufsTer10) c.831del (p.Phe277LeufsTer10) | gnomAD v4 |
2 | g.149570139_149570140del | CA1297264337 | MMADHC | c.728_729del (p.Phe243Ter) c.830_831del (p.Phe277Ter) | ClinVar dbSNP |
2 | g.149570137A>C | CA348869403 | MMADHC | c.728T>G (p.Phe243Cys) c.830T>G (p.Phe277Cys) | |
2 | g.149570137A>G | CA348869404 | MMADHC | c.728T>C (p.Phe243Ser) c.830T>C (p.Phe277Ser) | |
2 | g.149570137A>T | CA348869405 | MMADHC | c.728T>A (p.Phe243Tyr) c.830T>A (p.Phe277Tyr) | |
2 | g.149570138A= | CA1297264338 | MMADHC | c.727T= (p.Phe243=) c.829T= (p.Phe277=) | |
2 | g.149570138A>C | CA348869406 | MMADHC | c.727T>G (p.Phe243Val) c.829T>G (p.Phe277Val) | |
2 | g.149570138A>G | CA348869407 | MMADHC | c.727T>C (p.Phe243Leu) c.829T>C (p.Phe277Leu) | dbSNP |
2 | g.149570138A>T | CA348869408 | MMADHC | c.727T>A (p.Phe243Ile) c.829T>A (p.Phe277Ile) | |
2 | g.149570139A>C | CA429405949 | MMADHC | c.726T>G (p.Leu242=) c.828T>G (p.Leu276=) | |
2 | g.149570139A>G | CA429405950 | MMADHC | c.726T>C (p.Leu242=) c.828T>C (p.Leu276=) | |
2 | g.149570139A>T | CA429405951 | MMADHC | c.726T>A (p.Leu242=) c.828T>A (p.Leu276=) | |
2 | g.149570140A>C | CA348869410 | MMADHC | c.725T>G (p.Leu242Arg) c.827T>G (p.Leu276Arg) | |
2 | g.149570140A>G | CA348869411 | MMADHC | c.725T>C (p.Leu242Pro) c.827T>C (p.Leu276Pro) | |
2 | g.149570140A>T | CA348869409 | MMADHC | c.725T>A (p.Leu242His) c.827T>A (p.Leu276His) | gnomAD v4 |
2 | g.149570141G>A | CA348869412 | MMADHC | c.724C>T (p.Leu242Phe) c.826C>T (p.Leu276Phe) | gnomAD v4 |
2 | g.149570141G>C | CA1902279 | MMADHC | c.724C>G (p.Leu242Val) c.826C>G (p.Leu276Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570141G= | CA1297264339 | MMADHC | c.724C= (p.Leu242=) c.826C= (p.Leu276=) | |
2 | g.149570141G>T | CA348869413 | MMADHC | c.724C>A (p.Leu242Ile) c.826C>A (p.Leu276Ile) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.149570142A>C | CA429405952 | MMADHC | c.723T>G (p.Thr241=) c.825T>G (p.Thr275=) | ClinVar |
2 | g.149570142A>G | CA429405953 | MMADHC | c.723T>C (p.Thr241=) c.825T>C (p.Thr275=) | |
2 | g.149570142A>T | CA429405954 | MMADHC | c.723T>A (p.Thr241=) c.825T>A (p.Thr275=) | |
2 | g.149570143G>A | CA348869414 | MMADHC | c.722C>T (p.Thr241Ile) c.824C>T (p.Thr275Ile) | |
2 | g.149570143G>C | CA348869415 | MMADHC | c.722C>G (p.Thr241Ser) c.824C>G (p.Thr275Ser) | |
2 | g.149570143G>T | CA348869416 | MMADHC | c.722C>A (p.Thr241Asn) c.824C>A (p.Thr275Asn) | |
2 | g.149570144T>A | CA348869417 | MMADHC | c.721A>T (p.Thr241Ser) c.823A>T (p.Thr275Ser) | |
2 | g.149570144T>C | CA348869419 | MMADHC | c.721A>G (p.Thr241Ala) c.823A>G (p.Thr275Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.149570144T>G | CA348869418 | MMADHC | c.721A>C (p.Thr241Pro) c.823A>C (p.Thr275Pro) | |
2 | g.149570144T= | CA1297264340 | MMADHC | c.721A= (p.Thr241=) c.823A= (p.Thr275=) | |
2 | g.149570145G>A | CA429405955 | MMADHC | c.720C>T (p.Asn240=) c.822C>T (p.Asn274=) | |
2 | g.149570145G>C | CA348869420 | MMADHC | c.720C>G (p.Asn240Lys) c.822C>G (p.Asn274Lys) | |
2 | g.149570145G>T | CA348869421 | MMADHC | c.720C>A (p.Asn240Lys) c.822C>A (p.Asn274Lys) | |
2 | g.149570145_149570146delinsGT | CA1297264341 | MMADHC | c.719_720delinsAC (p.Asn240=) c.821_822delinsAC (p.Asn274=) | |
2 | g.149570146T>A | CA348869422 | MMADHC | c.719A>T (p.Asn240Ile) c.821A>T (p.Asn274Ile) | |
2 | g.149570146T>C | CA348869423 | MMADHC | c.719A>G (p.Asn240Ser) c.821A>G (p.Asn274Ser) | gnomAD v4 |
2 | g.149570146T>G | CA348869424 | MMADHC | c.719A>C (p.Asn240Thr) c.821A>C (p.Asn274Thr) | |
2 | g.149570147del | CA758703413 | MMADHC | c.719del (p.Asn240ThrfsTer13) c.821del (p.Asn274ThrfsTer13) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.149570150_149570153dup | CA2661422184 | MMADHC | c.716_719dup (p.Asn240LysfsTer6) c.818_821dup (p.Asn274LysfsTer6) | gnomAD v4 |
2 | g.149570147T>A | CA348869426 | MMADHC | c.718A>T (p.Asn240Tyr) c.820A>T (p.Asn274Tyr) | |
2 | g.149570147T>C | CA1902280 | MMADHC | c.718A>G (p.Asn240Asp) c.820A>G (p.Asn274Asp) | dbSNP ExAC |
2 | g.149570147T>G | CA348869425 | MMADHC | c.718A>C (p.Asn240His) c.820A>C (p.Asn274His) | gnomAD v4 |
2 | g.149570147T= | CA1297264342 | MMADHC | c.718A= (p.Asn240=) c.820A= (p.Asn274=) | |
2 | g.149570148G>A | CA429405956 | MMADHC | c.717C>T (p.Asn239=) c.819C>T (p.Asn273=) | |
2 | g.149570148G>C | CA348869428 | MMADHC | c.717C>G (p.Asn239Lys) c.819C>G (p.Asn273Lys) | COSMIC |
2 | g.149570148G>T | CA348869427 | MMADHC | c.717C>A (p.Asn239Lys) c.819C>A (p.Asn273Lys) | |
2 | g.149570149T>A | CA348869429 | MMADHC | c.716A>T (p.Asn239Ile) c.818A>T (p.Asn273Ile) | |
2 | g.149570149T>C | CA348869430 | MMADHC | c.716A>G (p.Asn239Ser) c.818A>G (p.Asn273Ser) | |
2 | g.149570149T>G | CA348869431 | MMADHC | c.716A>C (p.Asn239Thr) c.818A>C (p.Asn273Thr) | |
2 | g.149570150T>A | CA348869432 | MMADHC | c.715A>T (p.Asn239Tyr) c.817A>T (p.Asn273Tyr) | |
2 | g.149570150T>C | CA348869433 | MMADHC | c.715A>G (p.Asn239Asp) c.817A>G (p.Asn273Asp) | |
2 | g.149570150T>G | CA348869434 | MMADHC | c.715A>C (p.Asn239His) c.817A>C (p.Asn273His) | |
2 | g.149570151T>A | CA429405959 | MMADHC | c.714A>T (p.Thr238=) c.816A>T (p.Thr272=) | |
2 | g.149570151T>C | CA429405958 | MMADHC | c.714A>G (p.Thr238=) c.816A>G (p.Thr272=) | |
2 | g.149570151T>G | CA429405957 | MMADHC | c.714A>C (p.Thr238=) c.816A>C (p.Thr272=) | ClinVar dbSNP |
2 | g.149570152G>A | CA348869435 | MMADHC | c.713C>T (p.Thr238Ile) c.815C>T (p.Thr272Ile) | |
2 | g.149570152G>C | CA348869436 | MMADHC | c.713C>G (p.Thr238Arg) c.815C>G (p.Thr272Arg) | gnomAD v4 COSMIC |
2 | g.149570152G>T | CA348869437 | MMADHC | c.713C>A (p.Thr238Lys) c.815C>A (p.Thr272Lys) | |
2 | g.149570153T>A | CA348869438 | MMADHC | c.712A>T (p.Thr238Ser) c.814A>T (p.Thr272Ser) | |
2 | g.149570153T>C | CA348869439 | MMADHC | c.712A>G (p.Thr238Ala) c.814A>G (p.Thr272Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570153T>G | CA348869440 | MMADHC | c.712A>C (p.Thr238Pro) c.814A>C (p.Thr272Pro) | |
2 | g.149570153T= | CA1297264343 | MMADHC | c.712A= (p.Thr238=) c.814A= (p.Thr272=) | |
2 | g.149570154A= | CA1297264344 | MMADHC | c.711T= (p.Tyr237=) c.813T= (p.Tyr271=) | |
2 | g.149570154A>C | CA348869442 | MMADHC | c.711T>G (p.Tyr237Ter) c.813T>G (p.Tyr271Ter) | |
2 | g.149570154A>G | CA429405960 | MMADHC | c.711T>C (p.Tyr237=) c.813T>C (p.Tyr271=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.149570154A>T | CA348869441 | MMADHC | c.711T>A (p.Tyr237Ter) c.813T>A (p.Tyr271Ter) | |
2 | g.149570155T>A | CA348869443 | MMADHC | c.710A>T (p.Tyr237Phe) c.812A>T (p.Tyr271Phe) | |
2 | g.149570155T>C | CA348869444 | MMADHC | c.710A>G (p.Tyr237Cys) c.812A>G (p.Tyr271Cys) | gnomAD v4 |
2 | g.149570155T>G | CA348869445 | MMADHC | c.710A>C (p.Tyr237Ser) c.812A>C (p.Tyr271Ser) | |
2 | g.149570156del | CA2661422185 | MMADHC | c.709del (p.Tyr237IlefsTer16) c.811del (p.Tyr271IlefsTer16) | gnomAD v4 |
2 | g.149570156A>C | CA348869446 | MMADHC | c.709T>G (p.Tyr237Asp) c.811T>G (p.Tyr271Asp) | |
2 | g.149570156A>G | CA348869447 | MMADHC | c.709T>C (p.Tyr237His) c.811T>C (p.Tyr271His) | |
2 | g.149570156A>T | CA348869448 | MMADHC | c.709T>A (p.Tyr237Asn) c.811T>A (p.Tyr271Asn) | |
2 | g.149570157T>A | CA429405961 | MMADHC | c.708A>T (p.Pro236=) c.810A>T (p.Pro270=) | |
2 | g.149570157T>C | CA1902281 | MMADHC | c.708A>G (p.Pro236=) c.810A>G (p.Pro270=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570157T>G | CA429405962 | MMADHC | c.708A>C (p.Pro236=) c.810A>C (p.Pro270=) | |
2 | g.149570157T= | CA1297264345 | MMADHC | c.708A= (p.Pro236=) c.810A= (p.Pro270=) | |
2 | g.149570158G>A | CA1902282 | MMADHC | c.707C>T (p.Pro236Leu) c.809C>T (p.Pro270Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570158G>C | CA348869449 | MMADHC | c.707C>G (p.Pro236Arg) c.809C>G (p.Pro270Arg) | |
2 | g.149570158G= | CA1297264346 | MMADHC | c.707C= (p.Pro236=) c.809C= (p.Pro270=) | |
2 | g.149570158G>T | CA348869450 | MMADHC | c.707C>A (p.Pro236Gln) c.809C>A (p.Pro270Gln) | |
2 | g.149570159G>A | CA348869451 | MMADHC | c.706C>T (p.Pro236Ser) c.808C>T (p.Pro270Ser) | |
2 | g.149570159G>C | CA348869452 | MMADHC | c.706C>G (p.Pro236Ala) c.808C>G (p.Pro270Ala) | |
2 | g.149570159G>T | CA348869453 | MMADHC | c.706C>A (p.Pro236Thr) c.808C>A (p.Pro270Thr) | |
2 | g.149570160T>A | CA429405963 | MMADHC | c.705A>T (p.Gly235=) c.807A>T (p.Gly269=) | |
2 | g.149570160T>C | CA429405964 | MMADHC | c.705A>G (p.Gly235=) c.807A>G (p.Gly269=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570160T>G | CA429405965 | MMADHC | c.705A>C (p.Gly235=) c.807A>C (p.Gly269=) | |
2 | g.149570160T= | CA1297264347 | MMADHC | c.705A= (p.Gly235=) c.807A= (p.Gly269=) | |
2 | g.149570161C>A | CA348869456 | MMADHC | c.704G>T (p.Gly235Val) c.806G>T (p.Gly269Val) | gnomAD v4 |
2 | g.149570161C= | CA1297264348 | MMADHC | c.704G= (p.Gly235=) c.806G= (p.Gly269=) | |
2 | g.149570161C>G | CA348869455 | MMADHC | c.704G>C (p.Gly235Ala) c.806G>C (p.Gly269Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.149570161C>T | CA348869454 | MMADHC | c.704G>A (p.Gly235Glu) c.806G>A (p.Gly269Glu) | gnomAD v4 |
2 | g.149570162C>A | CA348869457 | MMADHC | c.703G>T (p.Gly235Ter) c.805G>T (p.Gly269Ter) | |
2 | g.149570162C= | CA1297264349 | MMADHC | c.703G= (p.Gly235=) c.805G= (p.Gly269=) | |
2 | g.149570162C>G | CA348869458 | MMADHC | c.703G>C (p.Gly235Arg) c.805G>C (p.Gly269Arg) | |
2 | g.149570162C>T | CA348869459 | MMADHC | c.703G>A (p.Gly235Arg) c.805G>A (p.Gly269Arg) | |
2 | g.149570163A>C | CA348869460 | MMADHC | c.702T>G (p.Phe234Leu) c.804T>G (p.Phe268Leu) | |
2 | g.149570163A>G | CA429405966 | MMADHC | c.702T>C (p.Phe234=) c.804T>C (p.Phe268=) | |
2 | g.149570163A>T | CA348869461 | MMADHC | c.702T>A (p.Phe234Leu) c.804T>A (p.Phe268Leu) | |
2 | g.149570168dup | CA1139657224 | MMADHC | c.702dup (p.Gly235TrpfsTer10) c.804dup (p.Gly269TrpfsTer10) | ClinVar dbSNP |
2 | g.149570168del | CA2661422186 | MMADHC | c.702del (p.Phe234LeufsTer19) c.804del (p.Phe268LeufsTer19) | gnomAD v4 |
2 | g.149570164A>C | CA348869462 | MMADHC | c.701T>G (p.Phe234Cys) c.803T>G (p.Phe268Cys) | |
2 | g.149570164A>G | CA348869463 | MMADHC | c.701T>C (p.Phe234Ser) c.803T>C (p.Phe268Ser) | |
2 | g.149570164A>T | CA348869464 | MMADHC | c.701T>A (p.Phe234Tyr) c.803T>A (p.Phe268Tyr) | |
2 | g.149570165A>C | CA348869465 | MMADHC | c.700T>G (p.Phe234Val) c.802T>G (p.Phe268Val) | |
2 | g.149570165A>G | CA348869466 | MMADHC | c.700T>C (p.Phe234Leu) c.802T>C (p.Phe268Leu) | |
2 | g.149570165A>T | CA348869467 | MMADHC | c.700T>A (p.Phe234Ile) c.802T>A (p.Phe268Ile) | |
2 | g.149570166A= | CA1297264350 | MMADHC | c.699T= (p.Phe233=) c.801T= (p.Phe267=) | |
2 | g.149570166A>C | CA348869468 | MMADHC | c.699T>G (p.Phe233Leu) c.801T>G (p.Phe267Leu) | |
2 | g.149570166A>G | CA429405967 | MMADHC | c.699T>C (p.Phe233=) c.801T>C (p.Phe267=) | ClinVar dbSNP |
2 | g.149570166A>T | CA348869469 | MMADHC | c.699T>A (p.Phe233Leu) c.801T>A (p.Phe267Leu) | |
2 | g.149570167A>C | CA348869472 | MMADHC | c.698T>G (p.Phe233Cys) c.800T>G (p.Phe267Cys) | |
2 | g.149570167A>G | CA348869470 | MMADHC | c.698T>C (p.Phe233Ser) c.800T>C (p.Phe267Ser) | |
2 | g.149570167A>T | CA348869471 | MMADHC | c.698T>A (p.Phe233Tyr) c.800T>A (p.Phe267Tyr) | |
2 | g.149570168A= | CA1297264351 | MMADHC | c.697T= (p.Phe233=) c.799T= (p.Phe267=) | |
2 | g.149570168A>C | CA348869473 | MMADHC | c.697T>G (p.Phe233Val) c.799T>G (p.Phe267Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570168A>G | CA348869474 | MMADHC | c.697T>C (p.Phe233Leu) c.799T>C (p.Phe267Leu) | |
2 | g.149570168A>T | CA348869475 | MMADHC | c.697T>A (p.Phe233Ile) c.799T>A (p.Phe267Ile) | |
2 | g.149570168_149570169insTGCCAAACCAGATGATGGGTCAATAAAGTCAGCCCAATAACCCTCAG | CA2661422187 | MMADHC | c.697-1_697insCTGAGGGTTATTGGGCTGACTTTATTGACCCATCATCTGGTTTGGCA (n.697-1_697insCTGAGGGTTATTGGGCTGACTTTATTGACCCATCATCTGGTTTGGCA) c.799-1_799insCTGAGGGTTATTGGGCTGACTTTATTGACCCATCATCTGGTTTGGCA (n.799-1_799insCTGAGGGTTATTGGGCTGACTTTATTGACCCATCATCTGGTTTGGCA) | gnomAD v4 |
2 | g.149570169C>A | CA348869476 | MMADHC | c.697-1G>T (n.697-1G>T) c.799-1G>T (n.799-1G>T) | |
2 | g.149570169C>G | CA348869477 | MMADHC | c.697-1G>C (n.697-1G>C) c.799-1G>C (n.799-1G>C) | |
2 | g.149570169C>T | CA348869478 | MMADHC | c.697-1G>A (n.697-1G>A) c.799-1G>A (n.799-1G>A) | |
2 | g.149570170T>A | CA348869479 | MMADHC | c.697-2A>T (n.697-2A>T) c.799-2A>T (n.799-2A>T) | |
2 | g.149570170T>C | CA348869480 | MMADHC | c.697-2A>G (n.697-2A>G) c.799-2A>G (n.799-2A>G) | dbSNP |
2 | g.149570170T>G | CA348869481 | MMADHC | c.697-2A>C (n.697-2A>C) c.799-2A>C (n.799-2A>C) | |
2 | g.149570170T= | CA1297264352 | MMADHC | c.697-2A= (n.697-2A=) c.799-2A= (n.799-2A=) | |
2 | g.149570170_149570171del | CA2661422188 | MMADHC | c.697-3_697-2del (n.697-3_697-2del) c.799-3_799-2del (n.799-3_799-2del) | gnomAD v4 |
2 | g.149570171G>A | CA1902283 | MMADHC | c.697-3C>T (n.697-3C>T) c.799-3C>T (n.799-3C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570171G= | CA1297264353 | MMADHC | c.697-3C= (n.697-3C=) c.799-3C= (n.799-3C=) | |
2 | g.149570172A= | CA1297264354 | MMADHC | c.697-4T= (n.697-4T=) c.799-4T= (n.799-4T=) | |
2 | g.149570172A>G | CA1902284 | MMADHC | c.697-4T>C (n.697-4T>C) c.799-4T>C (n.799-4T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570173G>A | CA537032347 | MMADHC | c.697-5C>T (n.697-5C>T) c.799-5C>T (n.799-5C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.149570173G= | CA1297264355 | MMADHC | c.697-5C= (n.697-5C=) c.799-5C= (n.799-5C=) | |
2 | g.149570173G>T | CA2533726285 | MMADHC | c.697-5C>A (n.697-5C>A) c.799-5C>A (n.799-5C>A) | |
2 | g.149570174G>T | CA2661422189 | MMADHC | c.697-6C>A (n.697-6C>A) c.799-6C>A (n.799-6C>A) | gnomAD v4 |
2 | g.149570176_149570190dup | CA2605614579 | MMADHC | c.697-21_697-7dup (n.697-21_697-7dup) c.799-21_799-7dup (n.799-21_799-7dup) | ClinVar gnomAD v3 gnomAD v4 |
2 | g.149570176A= | CA1297264356 | MMADHC | c.697-8T= (n.697-8T=) c.799-8T= (n.799-8T=) | |
2 | g.149570176A>C | CA537032348 | MMADHC | c.697-8T>G (n.697-8T>G) c.799-8T>G (n.799-8T>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.149570177A= | CA1297264357 | MMADHC | c.697-9T= (n.697-9T=) c.799-9T= (n.799-9T=) | |
2 | g.149570177A>C | CA2577116942 | MMADHC | c.697-9T>G (n.697-9T>G) c.799-9T>G (n.799-9T>G) | |
2 | g.149570177A>G | CA537032349 | MMADHC | c.697-9T>C (n.697-9T>C) c.799-9T>C (n.799-9T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.149570178T>C | CA1902285 | MMADHC | c.697-10A>G (n.697-10A>G) c.799-10A>G (n.799-10A>G) | ClinVar dbSNP ExAC gnomAD v4 |
2 | g.149570178T= | CA1297264358 | MMADHC | c.697-10A= (n.697-10A=) c.799-10A= (n.799-10A=) | |
2 | g.149570179A>G | CA647537450 | MMADHC | c.697-11T>C (n.697-11T>C) c.799-11T>C (n.799-11T>C) | COSMIC COSMIC |
2 | g.149570183del | CA2661422190 | MMADHC | c.697-11del (n.697-11del) c.799-11del (n.799-11del) | gnomAD v4 |
2 | g.149570180A= | CA1297264359 | MMADHC | c.697-12T= (n.697-12T=) c.799-12T= (n.799-12T=) | |
2 | g.149570180A>C | CA537032352 | MMADHC | c.697-12T>G (n.697-12T>G) c.799-12T>G (n.799-12T>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.149570183A= | CA1297264360 | MMADHC | c.697-15T= (n.697-15T=) c.799-15T= (n.799-15T=) | |
2 | g.149570183A>G | CA58332360 | MMADHC | c.697-15T>C (n.697-15T>C) c.799-15T>C (n.799-15T>C) | dbSNP |
2 | g.149570184C= | CA1297264361 | MMADHC | c.697-16G= (n.697-16G=) c.799-16G= (n.799-16G=) | |
2 | g.149570184C>T | CA1902286 | MMADHC | c.697-16G>A (n.697-16G>A) c.799-16G>A (n.799-16G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570185G>A | CA537032353 | MMADHC | c.697-17C>T (n.697-17C>T) c.799-17C>T (n.799-17C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570185G>C | CA2752638774 | MMADHC | c.697-17C>G (n.697-17C>G) c.799-17C>G (n.799-17C>G) | |
2 | g.149570185G= | CA1297264362 | MMADHC | c.697-17C= (n.697-17C=) c.799-17C= (n.799-17C=) | |
2 | g.149570185G>T | CA2661422191 | MMADHC | c.697-17C>A (n.697-17C>A) c.799-17C>A (n.799-17C>A) | gnomAD v4 |
2 | g.149570186A>T | CA2577116943 | MMADHC | c.697-18T>A (n.697-18T>A) c.799-18T>A (n.799-18T>A) | |
2 | g.149570188del | CA2739271277 | MMADHC | c.697-18del (n.697-18del) c.799-18del (n.799-18del) | ClinVar |
2 | g.149570188A>G | CA2661422192 | MMADHC | c.697-20T>C (n.697-20T>C) c.799-20T>C (n.799-20T>C) | gnomAD v4 |
2 | g.149570188_149570189insCACACCCAACACA | CA2752638775 | MMADHC | c.697-20_697-19insGTGTTGGGTGTGT (n.697-20_697-19insGTGTTGGGTGTGT) c.799-20_799-19insGTGTTGGGTGTGT (n.799-20_799-19insGTGTTGGGTGTGT) | |
2 | g.149570191T>C | CA1902287 | MMADHC | c.697-23A>G (n.697-23A>G) c.799-23A>G (n.799-23A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.149570191T>G | CA1297264364 | MMADHC | c.697-23A>C (n.697-23A>C) c.799-23A>C (n.799-23A>C) | dbSNP |
2 | g.149570191T= | CA1297264363 | MMADHC | c.697-23A= (n.697-23A=) c.799-23A= (n.799-23A=) | |
2 | g.149570194T>G | CA2661422193 | MMADHC | c.697-26A>C (n.697-26A>C) c.799-26A>C (n.799-26A>C) | gnomAD v4 |
2 | g.149570195C= | CA1297264365 | MMADHC | c.697-27G= (n.697-27G=) c.799-27G= (n.799-27G=) | |
2 | g.149570195C>G | CA1902288 | MMADHC | c.697-27G>C (n.697-27G>C) c.799-27G>C (n.799-27G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570195C>T | CA1902290 | MMADHC | c.697-27G>A (n.697-27G>A) c.799-27G>A (n.799-27G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570195_149570198delinsCATT | CA1297264366 | MMADHC | c.697-30_697-27delinsAATG (n.697-30_697-27delinsAATG) c.799-30_799-27delinsAATG (n.799-30_799-27delinsAATG) | |
2 | g.149570196A= | CA1297264367 | MMADHC | c.697-28T= (n.697-28T=) c.799-28T= (n.799-28T=) | |
2 | g.149570196A>C | CA2661422195 | MMADHC | c.697-28T>G (n.697-28T>G) c.799-28T>G (n.799-28T>G) | gnomAD v4 |
2 | g.149570196dup | CA2661422194 | MMADHC | c.697-28dup (n.697-28dup) c.799-28dup (n.799-28dup) | gnomAD v4 |
2 | g.149570197_149570199del | CA1902289 | MMADHC | c.697-30_697-28del (n.697-30_697-28del) c.799-30_799-28del (n.799-30_799-28del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570197T>C | CA758703502 | MMADHC | c.697-29A>G (n.697-29A>G) c.799-29A>G (n.799-29A>G) | dbSNP |
2 | g.149570197T>G | CA758703501 | MMADHC | c.697-29A>C (n.697-29A>C) c.799-29A>C (n.799-29A>C) | dbSNP |
2 | g.149570197T= | CA1297264368 | MMADHC | c.697-29A= (n.697-29A=) c.799-29A= (n.799-29A=) | |
2 | g.149570198dup | CA1902291 | MMADHC | c.697-29dup (n.697-29dup) c.799-29dup (n.799-29dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.149570198_149570199del | CA2661422196 | MMADHC | c.697-31_697-30del (n.697-31_697-30del) c.799-31_799-30del (n.799-31_799-30del) | gnomAD v4 |
2 | g.149570198_149570202delinsTAGTA | CA1297264369 | MMADHC | c.697-34_697-30delinsTACTA (n.697-34_697-30delinsTACTA) c.799-34_799-30delinsTACTA (n.799-34_799-30delinsTACTA) | |
2 | g.149570199A= | CA1297264370 | MMADHC | c.697-31T= (n.697-31T=) c.799-31T= (n.799-31T=) | |
2 | g.149570199A>G | CA2661422197 | MMADHC | c.697-31T>C (n.697-31T>C) c.799-31T>C (n.799-31T>C) | gnomAD v4 |
2 | g.149570199A>T | CA1902292 | MMADHC | c.697-31T>A (n.697-31T>A) c.799-31T>A (n.799-31T>A) | dbSNP ExAC gnomAD v2 |
2 | g.149570201_149570204del | CA1037732405 | MMADHC | c.697-34_697-31del (n.697-34_697-31del) c.799-34_799-31del (n.799-34_799-31del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.149570200G>A | CA1297264372 | MMADHC | c.697-32C>T (n.697-32C>T) c.799-32C>T (n.799-32C>T) | dbSNP |
2 | g.149570200G= | CA1297264371 | MMADHC | c.697-32C= (n.697-32C=) c.799-32C= (n.799-32C=) | |
2 | g.149570203A= | CA1297264373 | MMADHC | c.697-35T= (n.697-35T=) c.799-35T= (n.799-35T=) | |
2 | g.149570203A>C | CA758703505 | MMADHC | c.697-35T>G (n.697-35T>G) c.799-35T>G (n.799-35T>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.149570203A>G | CA537032354 | MMADHC | c.697-35T>C (n.697-35T>C) c.799-35T>C (n.799-35T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.149570204G>A | CA1297264375 | MMADHC | c.697-36C>T (n.697-36C>T) c.799-36C>T (n.799-36C>T) | dbSNP |
2 | g.149570204G= | CA1297264374 | MMADHC | c.697-36C= (n.697-36C=) c.799-36C= (n.799-36C=) | |
2 | g.149570205A>G | CA2661422198 | MMADHC | c.697-37T>C (n.697-37T>C) c.799-37T>C (n.799-37T>C) | gnomAD v4 |
2 | g.149570207A>C | CA2752638776 | MMADHC | c.697-39T>G (n.697-39T>G) c.799-39T>G (n.799-39T>G) | |
2 | g.149570208G>A | CA537032355 | MMADHC | c.697-40C>T (n.697-40C>T) c.799-40C>T (n.799-40C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.149570208G= | CA1297264376 | MMADHC | c.697-40C= (n.697-40C=) c.799-40C= (n.799-40C=) | |
2 | g.149570209A= | CA1297264377 | MMADHC | c.697-41T= (n.697-41T=) c.799-41T= (n.799-41T=) | |
2 | g.149570209A>G | CA537032356 | MMADHC | c.697-41T>C (n.697-41T>C) c.799-41T>C (n.799-41T>C) | dbSNP gnomAD v2 gnomAD v4 |