UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.38396425del | CA5063952 | ALDH1B1 | c.677del (p.Lys226ArgfsTer10) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.38396425A= | CA1847332240 | ALDH1B1 | c.677A= (p.Lys226=) | |
| 9 | g.38396425A>C | CA373511298 | ALDH1B1 | c.677A>C (p.Lys226Thr) | |
| 9 | g.38396425A>G | CA5063953 | ALDH1B1 | c.677A>G (p.Lys226Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.38396425A>T | CA373511296 | ALDH1B1 | c.677A>T (p.Lys226Met) | |
| 9 | g.38396426G>A | CA465127206 | ALDH1B1 | c.678G>A (p.Lys226=) | dbSNP gnomAD v2 |
| 9 | g.38396426G>C | CA373511301 | ALDH1B1 | c.678G>C (p.Lys226Asn) | |
| 9 | g.38396426G= | CA1847332246 | ALDH1B1 | c.678G= (p.Lys226=) | |
| 9 | g.38396426G>T | CA373511302 | ALDH1B1 | c.678G>T (p.Lys226Asn) | |
| 9 | g.38396427G>A | CA373511305 | ALDH1B1 | c.679G>A (p.Glu227Lys) | gnomAD v4 |
| 9 | g.38396427G>C | CA373511306 | ALDH1B1 | c.679G>C (p.Glu227Gln) | |
| 9 | g.38396427G>T | CA373511308 | ALDH1B1 | c.679G>T (p.Glu227Ter) | |
| 9 | g.38396428A>C | CA373511310 | ALDH1B1 | c.680A>C (p.Glu227Ala) | |
| 9 | g.38396428A>G | CA373511312 | ALDH1B1 | c.680A>G (p.Glu227Gly) | |
| 9 | g.38396428A>T | CA373511314 | ALDH1B1 | c.680A>T (p.Glu227Val) | |
| 9 | g.38396429G>A | CA465127212 | ALDH1B1 | c.681G>A (p.Glu227=) | gnomAD v4 |
| 9 | g.38396429G>C | CA373511316 | ALDH1B1 | c.681G>C (p.Glu227Asp) | |
| 9 | g.38396429G>T | CA373511318 | ALDH1B1 | c.681G>T (p.Glu227Asp) | |
| 9 | g.38396430G>A | CA373511320 | ALDH1B1 | c.682G>A (p.Ala228Thr) | |
| 9 | g.38396430G>C | CA373511321 | ALDH1B1 | c.682G>C (p.Ala228Pro) | |
| 9 | g.38396430G>T | CA373511323 | ALDH1B1 | c.682G>T (p.Ala228Ser) | gnomAD v4 |
| 9 | g.38396431C>A | CA373511325 | ALDH1B1 | c.683C>A (p.Ala228Glu) | |
| 9 | g.38396431C>G | CA373511328 | ALDH1B1 | c.683C>G (p.Ala228Gly) | |
| 9 | g.38396431C>T | CA373511326 | ALDH1B1 | c.683C>T (p.Ala228Val) | |
| 9 | g.38396432A>C | CA465127217 | ALDH1B1 | c.684A>C (p.Ala228=) | |
| 9 | g.38396432A>G | CA465127219 | ALDH1B1 | c.684A>G (p.Ala228=) | |
| 9 | g.38396432A>T | CA465127220 | ALDH1B1 | c.684A>T (p.Ala228=) | |
| 9 | g.38396433G>A | CA373511331 | ALDH1B1 | c.685G>A (p.Gly229Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.38396433G>C | CA373511332 | ALDH1B1 | c.685G>C (p.Gly229Arg) | |
| 9 | g.38396433G= | CA1847332255 | ALDH1B1 | c.685G= (p.Gly229=) | |
| 9 | g.38396433G>T | CA373511333 | ALDH1B1 | c.685G>T (p.Gly229Cys) | |
| 9 | g.38396434G>A | CA192997836 | ALDH1B1 | c.686G>A (p.Gly229Asp) | dbSNP |
| 9 | g.38396434G>C | CA373511337 | ALDH1B1 | c.686G>C (p.Gly229Ala) | |
| 9 | g.38396434G= | CA1847332260 | ALDH1B1 | c.686G= (p.Gly229=) | |
| 9 | g.38396434G>T | CA373511339 | ALDH1B1 | c.686G>T (p.Gly229Val) | |
| 9 | g.38396435C>A | CA465127224 | ALDH1B1 | c.687C>A (p.Gly229=) | |
| 9 | g.38396435C= | CA1847332269 | ALDH1B1 | c.687C= (p.Gly229=) | |
| 9 | g.38396435C>G | CA5063954 | ALDH1B1 | c.687C>G (p.Gly229=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.38396435C>T | CA465127226 | ALDH1B1 | c.687C>T (p.Gly229=) | |
| 9 | g.38396436T>A | CA373511343 | ALDH1B1 | c.688T>A (p.Phe230Ile) | |
| 9 | g.38396436T>C | CA373511344 | ALDH1B1 | c.688T>C (p.Phe230Leu) | dbSNP gnomAD v4 |
| 9 | g.38396436T>G | CA373511346 | ALDH1B1 | c.688T>G (p.Phe230Val) | |
| 9 | g.38396436T= | CA1847332271 | ALDH1B1 | c.688T= (p.Phe230=) | |
| 9 | g.38396437T>A | CA373511351 | ALDH1B1 | c.689T>A (p.Phe230Tyr) | |
| 9 | g.38396437T>C | CA373511349 | ALDH1B1 | c.689T>C (p.Phe230Ser) | |
| 9 | g.38396437T>G | CA192997845 | ALDH1B1 | c.689T>G (p.Phe230Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396437T= | CA1847332275 | ALDH1B1 | c.689T= (p.Phe230=) | |
| 9 | g.38396438T>A | CA373511352 | ALDH1B1 | c.690T>A (p.Phe230Leu) | |
| 9 | g.38396438T>C | CA465127230 | ALDH1B1 | c.690T>C (p.Phe230=) | |
| 9 | g.38396438T>G | CA373511353 | ALDH1B1 | c.690T>G (p.Phe230Leu) | |
| 9 | g.38396439C>A | CA373511355 | ALDH1B1 | c.691C>A (p.Pro231Thr) | |
| 9 | g.38396439C>G | CA373511357 | ALDH1B1 | c.691C>G (p.Pro231Ala) | |
| 9 | g.38396439C>T | CA373511359 | ALDH1B1 | c.691C>T (p.Pro231Ser) | |
| 9 | g.38396440C>A | CA373511361 | ALDH1B1 | c.692C>A (p.Pro231His) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.38396440C= | CA1847332279 | ALDH1B1 | c.692C= (p.Pro231=) | |
| 9 | g.38396440C>G | CA373511363 | ALDH1B1 | c.692C>G (p.Pro231Arg) | |
| 9 | g.38396440C>T | CA373511365 | ALDH1B1 | c.692C>T (p.Pro231Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.38396441C>A | CA465127233 | ALDH1B1 | c.693C>A (p.Pro231=) | |
| 9 | g.38396441C= | CA1847332285 | ALDH1B1 | c.693C= (p.Pro231=) | |
| 9 | g.38396441C>G | CA465127236 | ALDH1B1 | c.693C>G (p.Pro231=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.38396441C>T | CA465127238 | ALDH1B1 | c.693C>T (p.Pro231=) | |
| 9 | g.38396442C>A | CA373511367 | ALDH1B1 | c.694C>A (p.Pro232Thr) | |
| 9 | g.38396442C= | CA1847332291 | ALDH1B1 | c.694C= (p.Pro232=) | |
| 9 | g.38396442C>G | CA373511370 | ALDH1B1 | c.694C>G (p.Pro232Ala) | |
| 9 | g.38396442C>T | CA5063955 | ALDH1B1 | c.694C>T (p.Pro232Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.38396443C>A | CA373511372 | ALDH1B1 | c.695C>A (p.Pro232His) | |
| 9 | g.38396443C= | CA1847332306 | ALDH1B1 | c.695C= (p.Pro232=) | |
| 9 | g.38396443C>G | CA373511374 | ALDH1B1 | c.695C>G (p.Pro232Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.38396443C>T | CA373511376 | ALDH1B1 | c.695C>T (p.Pro232Leu) | gnomAD v4 |
| 9 | g.38396443_38396444delinsCT | CA1847332304 | ALDH1B1 | c.695_696delinsCT (p.Pro232=) | |
| 9 | g.38396444del | CA863817903 | ALDH1B1 | c.696del (p.Val234TrpfsTer2) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.38396444T>A | CA465127242 | ALDH1B1 | c.696T>A (p.Pro232=) | |
| 9 | g.38396444T>C | CA465127243 | ALDH1B1 | c.696T>C (p.Pro232=) | |
| 9 | g.38396444T>G | CA192997891 | ALDH1B1 | c.696T>G (p.Pro232=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.38396444T= | CA1847332321 | ALDH1B1 | c.696T= (p.Pro232=) | |
| 9 | g.38396445G>A | CA373511380 | ALDH1B1 | c.697G>A (p.Gly233Arg) | gnomAD v4 |
| 9 | g.38396445G>C | CA373511384 | ALDH1B1 | c.697G>C (p.Gly233Arg) | dbSNP |
| 9 | g.38396445G= | CA1847332326 | ALDH1B1 | c.697G= (p.Gly233=) | |
| 9 | g.38396445G>T | CA373511381 | ALDH1B1 | c.697G>T (p.Gly233Trp) | |
| 9 | g.38396448dup | CA588147965 | ALDH1B1 | c.700dup (p.Val234GlyfsTer23) | dbSNP gnomAD v2 |
| 9 | g.38396446G>A | CA373511386 | ALDH1B1 | c.698G>A (p.Gly233Glu) | gnomAD v4 |
| 9 | g.38396446G>C | CA373511388 | ALDH1B1 | c.698G>C (p.Gly233Ala) | gnomAD v4 |
| 9 | g.38396446G>T | CA373511389 | ALDH1B1 | c.698G>T (p.Gly233Val) | |
| 9 | g.38396447G>A | CA465127250 | ALDH1B1 | c.699G>A (p.Gly233=) | dbSNP gnomAD v4 |
| 9 | g.38396447G>C | CA465127252 | ALDH1B1 | c.699G>C (p.Gly233=) | gnomAD v4 |
| 9 | g.38396447G= | CA1847332333 | ALDH1B1 | c.699G= (p.Gly233=) | |
| 9 | g.38396447G>T | CA465127253 | ALDH1B1 | c.699G>T (p.Gly233=) | |
| 9 | g.38396448G>A | CA373511390 | ALDH1B1 | c.700G>A (p.Val234Met) | dbSNP |
| 9 | g.38396448G>C | CA373511391 | ALDH1B1 | c.700G>C (p.Val234Leu) | |
| 9 | g.38396448G= | CA1847332337 | ALDH1B1 | c.700G= (p.Val234=) | |
| 9 | g.38396448G>T | CA373511393 | ALDH1B1 | c.700G>T (p.Val234Leu) | |
| 9 | g.38396449T>A | CA373511395 | ALDH1B1 | c.701T>A (p.Val234Glu) | |
| 9 | g.38396449T>C | CA373511396 | ALDH1B1 | c.701T>C (p.Val234Ala) | |
| 9 | g.38396449T>G | CA373511398 | ALDH1B1 | c.701T>G (p.Val234Gly) | gnomAD v4 COSMIC |
| 9 | g.38396450G>A | CA465127256 | ALDH1B1 | c.702G>A (p.Val234=) | |
| 9 | g.38396450G>C | CA465127257 | ALDH1B1 | c.702G>C (p.Val234=) | |
| 9 | g.38396450G>T | CA465127258 | ALDH1B1 | c.702G>T (p.Val234=) | |
| 9 | g.38396451G>A | CA5063956 | ALDH1B1 | c.703G>A (p.Val235Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396451G>C | CA373511401 | ALDH1B1 | c.703G>C (p.Val235Leu) | |
| 9 | g.38396451G= | CA1847332342 | ALDH1B1 | c.703G= (p.Val235=) | |
| 9 | g.38396451G>T | CA373511403 | ALDH1B1 | c.703G>T (p.Val235Leu) | |
| 9 | g.38396452T>A | CA373511406 | ALDH1B1 | c.704T>A (p.Val235Glu) | |
| 9 | g.38396452T>C | CA192997895 | ALDH1B1 | c.704T>C (p.Val235Ala) | dbSNP gnomAD v4 |
| 9 | g.38396452T>G | CA373511407 | ALDH1B1 | c.704T>G (p.Val235Gly) | |
| 9 | g.38396452T= | CA1847332346 | ALDH1B1 | c.704T= (p.Val235=) | |
| 9 | g.38396453G>A | CA5063957 | ALDH1B1 | c.705G>A (p.Val235=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396453G>C | CA465127260 | ALDH1B1 | c.705G>C (p.Val235=) | |
| 9 | g.38396453G= | CA1847332349 | ALDH1B1 | c.705G= (p.Val235=) | |
| 9 | g.38396453G>T | CA465127261 | ALDH1B1 | c.705G>T (p.Val235=) | |
| 9 | g.38396454A>C | CA373511413 | ALDH1B1 | c.706A>C (p.Asn236His) | |
| 9 | g.38396454A>G | CA373511414 | ALDH1B1 | c.706A>G (p.Asn236Asp) | gnomAD v4 |
| 9 | g.38396454A>T | CA373511416 | ALDH1B1 | c.706A>T (p.Asn236Tyr) | |
| 9 | g.38396455A>C | CA373511419 | ALDH1B1 | c.707A>C (p.Asn236Thr) | |
| 9 | g.38396455A>G | CA373511420 | ALDH1B1 | c.707A>G (p.Asn236Ser) | |
| 9 | g.38396455A>T | CA373511422 | ALDH1B1 | c.707A>T (p.Asn236Ile) | |
| 9 | g.38396456C>A | CA373511425 | ALDH1B1 | c.708C>A (p.Asn236Lys) | |
| 9 | g.38396456C= | CA1847332355 | ALDH1B1 | c.708C= (p.Asn236=) | |
| 9 | g.38396456C>G | CA5063958 | ALDH1B1 | c.708C>G (p.Asn236Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396456C>T | CA192997914 | ALDH1B1 | c.708C>T (p.Asn236=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396457A>C | CA373511428 | ALDH1B1 | c.709A>C (p.Ile237Leu) | |
| 9 | g.38396457A>G | CA373511429 | ALDH1B1 | c.709A>G (p.Ile237Val) | |
| 9 | g.38396457A>T | CA373511430 | ALDH1B1 | c.709A>T (p.Ile237Phe) | |
| 9 | g.38396458T>A | CA373511435 | ALDH1B1 | c.710T>A (p.Ile237Asn) | COSMIC |
| 9 | g.38396458T>C | CA373511432 | ALDH1B1 | c.710T>C (p.Ile237Thr) | |
| 9 | g.38396458T>G | CA373511433 | ALDH1B1 | c.710T>G (p.Ile237Ser) | |
| 9 | g.38396459C>A | CA465127270 | ALDH1B1 | c.711C>A (p.Ile237=) | |
| 9 | g.38396459C>G | CA373511437 | ALDH1B1 | c.711C>G (p.Ile237Met) | |
| 9 | g.38396459C>T | CA465127272 | ALDH1B1 | c.711C>T (p.Ile237=) | |
| 9 | g.38396460A= | CA1847332360 | ALDH1B1 | c.712A= (p.Ile238=) | |
| 9 | g.38396460A>C | CA373511439 | ALDH1B1 | c.712A>C (p.Ile238Leu) | |
| 9 | g.38396460A>G | CA192997920 | ALDH1B1 | c.712A>G (p.Ile238Val) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.38396460A>T | CA373511442 | ALDH1B1 | c.712A>T (p.Ile238Phe) | gnomAD v4 |
| 9 | g.38396461T>A | CA373511444 | ALDH1B1 | c.713T>A (p.Ile238Asn) | |
| 9 | g.38396461T>C | CA373511445 | ALDH1B1 | c.713T>C (p.Ile238Thr) | |
| 9 | g.38396461T>G | CA373511447 | ALDH1B1 | c.713T>G (p.Ile238Ser) | gnomAD v4 |
| 9 | g.38396462C>A | CA465127277 | ALDH1B1 | c.714C>A (p.Ile238=) | |
| 9 | g.38396462C= | CA1847332362 | ALDH1B1 | c.714C= (p.Ile238=) | |
| 9 | g.38396462C>G | CA373511449 | ALDH1B1 | c.714C>G (p.Ile238Met) | |
| 9 | g.38396462C>T | CA465127278 | ALDH1B1 | c.714C>T (p.Ile238=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396463A= | CA1847332367 | ALDH1B1 | c.715A= (p.Thr239=) | |
| 9 | g.38396463A>C | CA373511452 | ALDH1B1 | c.715A>C (p.Thr239Pro) | |
| 9 | g.38396463A>G | CA5063959 | ALDH1B1 | c.715A>G (p.Thr239Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.38396463A>T | CA373511454 | ALDH1B1 | c.715A>T (p.Thr239Ser) | |
| 9 | g.38396464C>A | CA373511455 | ALDH1B1 | c.716C>A (p.Thr239Lys) | gnomAD v4 |
| 9 | g.38396464C= | CA1847332370 | ALDH1B1 | c.716C= (p.Thr239=) | |
| 9 | g.38396464C>G | CA373511457 | ALDH1B1 | c.716C>G (p.Thr239Arg) | |
| 9 | g.38396464C>T | CA5063960 | ALDH1B1 | c.716C>T (p.Thr239Met) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.38396465G>A | CA5063961 | ALDH1B1 | c.717G>A (p.Thr239=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.38396465G>C | CA465127283 | ALDH1B1 | c.717G>C (p.Thr239=) | |
| 9 | g.38396465G= | CA1847332375 | ALDH1B1 | c.717G= (p.Thr239=) | |
| 9 | g.38396465G>T | CA465127284 | ALDH1B1 | c.717G>T (p.Thr239=) | |
| 9 | g.38396466G>A | CA373511462 | ALDH1B1 | c.718G>A (p.Gly240Arg) | |
| 9 | g.38396466G>C | CA373511461 | ALDH1B1 | c.718G>C (p.Gly240Arg) | |
| 9 | g.38396466G>T | CA373511464 | ALDH1B1 | c.718G>T (p.Gly240Trp) | |
| 9 | g.38396467G>A | CA373511466 | ALDH1B1 | c.719G>A (p.Gly240Glu) | dbSNP gnomAD v2 COSMIC |
| 9 | g.38396467G>C | CA373511470 | ALDH1B1 | c.719G>C (p.Gly240Ala) | |
| 9 | g.38396467G= | CA1847332376 | ALDH1B1 | c.719G= (p.Gly240=) | |
| 9 | g.38396467G>T | CA373511468 | ALDH1B1 | c.719G>T (p.Gly240Val) | |
| 9 | g.38396468G>A | CA465127290 | ALDH1B1 | c.720G>A (p.Gly240=) | |
| 9 | g.38396468G>C | CA465127289 | ALDH1B1 | c.720G>C (p.Gly240=) | dbSNP |
| 9 | g.38396468G= | CA1847332378 | ALDH1B1 | c.720G= (p.Gly240=) | |
| 9 | g.38396468G>T | CA465127288 | ALDH1B1 | c.720G>T (p.Gly240=) | dbSNP gnomAD v4 |
| 9 | g.38396469T>A | CA373511472 | ALDH1B1 | c.721T>A (p.Tyr241Asn) | |
| 9 | g.38396469T>C | CA5063962 | ALDH1B1 | c.721T>C (p.Tyr241His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396469T>G | CA373511475 | ALDH1B1 | c.721T>G (p.Tyr241Asp) | |
| 9 | g.38396469T= | CA1847332382 | ALDH1B1 | c.721T= (p.Tyr241=) | |
| 9 | g.38396470A>C | CA373511477 | ALDH1B1 | c.722A>C (p.Tyr241Ser) | |
| 9 | g.38396470A>G | CA373511479 | ALDH1B1 | c.722A>G (p.Tyr241Cys) | |
| 9 | g.38396470A>T | CA373511481 | ALDH1B1 | c.722A>T (p.Tyr241Phe) | |
| 9 | g.38396471T>A | CA373511483 | ALDH1B1 | c.723T>A (p.Tyr241Ter) | |
| 9 | g.38396471T>C | CA5063963 | ALDH1B1 | c.723T>C (p.Tyr241=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.38396471T>G | CA373511485 | ALDH1B1 | c.723T>G (p.Tyr241Ter) | |
| 9 | g.38396471T= | CA1847332391 | ALDH1B1 | c.723T= (p.Tyr241=) | |
| 9 | g.38396472G>A | CA373511487 | ALDH1B1 | c.724G>A (p.Gly242Ser) | |
| 9 | g.38396472G>C | CA373511489 | ALDH1B1 | c.724G>C (p.Gly242Arg) | |
| 9 | g.38396472G= | CA1847332395 | ALDH1B1 | c.724G= (p.Gly242=) | |
| 9 | g.38396472G>T | CA373511491 | ALDH1B1 | c.724G>T (p.Gly242Cys) | dbSNP gnomAD v4 |
| 9 | g.38396473G>A | CA373511492 | ALDH1B1 | c.725G>A (p.Gly242Asp) | gnomAD v4 |
| 9 | g.38396473G>C | CA373511496 | ALDH1B1 | c.725G>C (p.Gly242Ala) | |
| 9 | g.38396473G= | CA1847332406 | ALDH1B1 | c.725G= (p.Gly242=) | |
| 9 | g.38396473G>T | CA373511494 | ALDH1B1 | c.725G>T (p.Gly242Val) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.38396473_38396474delinsGC | CA1847332402 | ALDH1B1 | c.725_726delinsGC (p.Gly242=) | |
| 9 | g.38396474C>A | CA465127298 | ALDH1B1 | c.726C>A (p.Gly242=) | |
| 9 | g.38396474C>G | CA465127300 | ALDH1B1 | c.726C>G (p.Gly242=) | |
| 9 | g.38396474C>T | CA465127302 | ALDH1B1 | c.726C>T (p.Gly242=) | COSMIC |
| 9 | g.38396476del | CA5063964 | ALDH1B1 | c.728del (p.Pro243GlnfsTer27) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.38396475C>A | CA373511498 | ALDH1B1 | c.727C>A (p.Pro243Thr) | |
| 9 | g.38396475C= | CA1847332412 | ALDH1B1 | c.727C= (p.Pro243=) | |
| 9 | g.38396475C>G | CA373511500 | ALDH1B1 | c.727C>G (p.Pro243Ala) | |
| 9 | g.38396475C>T | CA373511502 | ALDH1B1 | c.727C>T (p.Pro243Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.38396476C>A | CA373511503 | ALDH1B1 | c.728C>A (p.Pro243Gln) | |
| 9 | g.38396476C>G | CA373511505 | ALDH1B1 | c.728C>G (p.Pro243Arg) | |
| 9 | g.38396476C>T | CA373511506 | ALDH1B1 | c.728C>T (p.Pro243Leu) | |
| 9 | g.38396477A>C | CA465127306 | ALDH1B1 | c.729A>C (p.Pro243=) | |
| 9 | g.38396477A>G | CA465127307 | ALDH1B1 | c.729A>G (p.Pro243=) | |
| 9 | g.38396477A>T | CA465127308 | ALDH1B1 | c.729A>T (p.Pro243=) | |
| 9 | g.38396478A= | CA1847332416 | ALDH1B1 | c.730A= (p.Thr244=) | |
| 9 | g.38396478A>C | CA373511508 | ALDH1B1 | c.730A>C (p.Thr244Pro) | |
| 9 | g.38396478A>G | CA373511510 | ALDH1B1 | c.730A>G (p.Thr244Ala) | dbSNP gnomAD v4 |
| 9 | g.38396478A>T | CA373511512 | ALDH1B1 | c.730A>T (p.Thr244Ser) | |
| 9 | g.38396479C>A | CA373511515 | ALDH1B1 | c.731C>A (p.Thr244Lys) | |
| 9 | g.38396479C= | CA1847332420 | ALDH1B1 | c.731C= (p.Thr244=) | |
| 9 | g.38396479C>G | CA373511516 | ALDH1B1 | c.731C>G (p.Thr244Arg) | |
| 9 | g.38396479C>T | CA5063965 | ALDH1B1 | c.731C>T (p.Thr244Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396480A>C | CA465127311 | ALDH1B1 | c.732A>C (p.Thr244=) | |
| 9 | g.38396480A>G | CA465127314 | ALDH1B1 | c.732A>G (p.Thr244=) | |
| 9 | g.38396480A>T | CA465127315 | ALDH1B1 | c.732A>T (p.Thr244=) | |
| 9 | g.38396481G>A | CA373511520 | ALDH1B1 | c.733G>A (p.Ala245Thr) | |
| 9 | g.38396481G>C | CA373511521 | ALDH1B1 | c.733G>C (p.Ala245Pro) | |
| 9 | g.38396481G>T | CA373511522 | ALDH1B1 | c.733G>T (p.Ala245Ser) | |
| 9 | g.38396482C>A | CA373511525 | ALDH1B1 | c.734C>A (p.Ala245Glu) | |
| 9 | g.38396482C= | CA1847332423 | ALDH1B1 | c.734C= (p.Ala245=) | |
| 9 | g.38396482C>G | CA373511526 | ALDH1B1 | c.734C>G (p.Ala245Gly) | gnomAD v4 |
| 9 | g.38396482C>T | CA373511529 | ALDH1B1 | c.734C>T (p.Ala245Val) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.38396483A= | CA1847332424 | ALDH1B1 | c.735A= (p.Ala245=) | |
| 9 | g.38396483A>C | CA465127320 | ALDH1B1 | c.735A>C (p.Ala245=) | |
| 9 | g.38396483A>G | CA465127319 | ALDH1B1 | c.735A>G (p.Ala245=) | |
| 9 | g.38396483A>T | CA465127318 | ALDH1B1 | c.735A>T (p.Ala245=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.38396484G>A | CA373511531 | ALDH1B1 | c.736G>A (p.Gly246Ser) | |
| 9 | g.38396484G>C | CA373511532 | ALDH1B1 | c.736G>C (p.Gly246Arg) | |
| 9 | g.38396484G>T | CA373511534 | ALDH1B1 | c.736G>T (p.Gly246Cys) | |
| 9 | g.38396485G>A | CA373511537 | ALDH1B1 | c.737G>A (p.Gly246Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.38396485G>C | CA373511538 | ALDH1B1 | c.737G>C (p.Gly246Ala) | |
| 9 | g.38396485G= | CA1847332427 | ALDH1B1 | c.737G= (p.Gly246=) | |
| 9 | g.38396485G>T | CA373511540 | ALDH1B1 | c.737G>T (p.Gly246Val) | |
| 9 | g.38396486T>A | CA465127325 | ALDH1B1 | c.738T>A (p.Gly246=) | |
| 9 | g.38396486T>C | CA465127324 | ALDH1B1 | c.738T>C (p.Gly246=) | |
| 9 | g.38396486T>G | CA465127323 | ALDH1B1 | c.738T>G (p.Gly246=) | gnomAD v4 |
| 9 | g.38396487G>A | CA373511544 | ALDH1B1 | c.739G>A (p.Ala247Thr) | gnomAD v4 |
| 9 | g.38396487G>C | CA373511546 | ALDH1B1 | c.739G>C (p.Ala247Pro) | |
| 9 | g.38396487G>T | CA373511543 | ALDH1B1 | c.739G>T (p.Ala247Ser) | |
| 9 | g.38396488C>A | CA373511548 | ALDH1B1 | c.740C>A (p.Ala247Glu) | dbSNP gnomAD v2 |
| 9 | g.38396488C= | CA1847332429 | ALDH1B1 | c.740C= (p.Ala247=) | |
| 9 | g.38396488C>G | CA373511550 | ALDH1B1 | c.740C>G (p.Ala247Gly) | |
| 9 | g.38396488C>T | CA5063966 | ALDH1B1 | c.740C>T (p.Ala247Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396489G>A | CA5063967 | ALDH1B1 | c.741G>A (p.Ala247=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396489G>C | CA465127326 | ALDH1B1 | c.741G>C (p.Ala247=) | |
| 9 | g.38396489G= | CA1847332433 | ALDH1B1 | c.741G= (p.Ala247=) | |
| 9 | g.38396489G>T | CA465127328 | ALDH1B1 | c.741G>T (p.Ala247=) | |
| 9 | g.38396490_38396501del | CA2690019374 | ALDH1B1 | c.742_753del (p.Ala248_Gln251del) | gnomAD v4 |
| 9 | g.38396490G>A | CA373511558 | ALDH1B1 | c.742G>A (p.Ala248Thr) | |
| 9 | g.38396490G>C | CA373511556 | ALDH1B1 | c.742G>C (p.Ala248Pro) | |
| 9 | g.38396490G>T | CA373511554 | ALDH1B1 | c.742G>T (p.Ala248Ser) | gnomAD v4 |
| 9 | g.38396491C>A | CA373511560 | ALDH1B1 | c.743C>A (p.Ala248Asp) | |
| 9 | g.38396491C>G | CA373511561 | ALDH1B1 | c.743C>G (p.Ala248Gly) | gnomAD v4 |
| 9 | g.38396491C>T | CA373511562 | ALDH1B1 | c.743C>T (p.Ala248Val) | |
| 9 | g.38396492C>A | CA465127334 | ALDH1B1 | c.744C>A (p.Ala248=) | |
| 9 | g.38396492C>G | CA465127333 | ALDH1B1 | c.744C>G (p.Ala248=) | |
| 9 | g.38396492C>T | CA465127335 | ALDH1B1 | c.744C>T (p.Ala248=) | |
| 9 | g.38396493A= | CA1847332442 | ALDH1B1 | c.745A= (p.Ile249=) | |
| 9 | g.38396493A>C | CA373511565 | ALDH1B1 | c.745A>C (p.Ile249Leu) | |
| 9 | g.38396493A>G | CA373511567 | ALDH1B1 | c.745A>G (p.Ile249Val) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.38396493A>T | CA373511568 | ALDH1B1 | c.745A>T (p.Ile249Phe) | |
| 9 | g.38396494T>A | CA373511574 | ALDH1B1 | c.746T>A (p.Ile249Asn) | |
| 9 | g.38396494T>C | CA373511573 | ALDH1B1 | c.746T>C (p.Ile249Thr) | |
| 9 | g.38396494T>G | CA373511571 | ALDH1B1 | c.746T>G (p.Ile249Ser) | |
| 9 | g.38396495C>A | CA465127341 | ALDH1B1 | c.747C>A (p.Ile249=) | |
| 9 | g.38396495C= | CA1847332451 | ALDH1B1 | c.747C= (p.Ile249=) | |
| 9 | g.38396495C>G | CA373511576 | ALDH1B1 | c.747C>G (p.Ile249Met) | gnomAD v4 |
| 9 | g.38396495C>T | CA5063968 | ALDH1B1 | c.747C>T (p.Ile249=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.38396496G>A | CA5063969 | ALDH1B1 | c.748G>A (p.Ala250Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.38396496G>C | CA373511580 | ALDH1B1 | c.748G>C (p.Ala250Pro) | |
| 9 | g.38396496G= | CA1847332463 | ALDH1B1 | c.748G= (p.Ala250=) | |
| 9 | g.38396496G>T | CA373511582 | ALDH1B1 | c.748G>T (p.Ala250Ser) | |
| 9 | g.38396496_38396497delinsGC | CA1847332462 | ALDH1B1 | c.748_749delinsGC (p.Ala250=) | |
| 9 | g.38396497C>A | CA373511584 | ALDH1B1 | c.749C>A (p.Ala250Asp) | gnomAD v4 |
| 9 | g.38396497C>G | CA373511586 | ALDH1B1 | c.749C>G (p.Ala250Gly) | |
| 9 | g.38396497C>T | CA373511587 | ALDH1B1 | c.749C>T (p.Ala250Val) | |
| 9 | g.38396499del | CA373511589 | ALDH1B1 | c.751del (p.Gln251SerfsTer19) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396498C>A | CA465127348 | ALDH1B1 | c.750C>A (p.Ala250=) | |
| 9 | g.38396498C>G | CA465127347 | ALDH1B1 | c.750C>G (p.Ala250=) | |
| 9 | g.38396498C>T | CA465127346 | ALDH1B1 | c.750C>T (p.Ala250=) | dbSNP |
| 9 | g.38396499C>A | CA373511591 | ALDH1B1 | c.751C>A (p.Gln251Lys) | |
| 9 | g.38396499C= | CA1847332471 | ALDH1B1 | c.751C= (p.Gln251=) | |
| 9 | g.38396499C>G | CA373511592 | ALDH1B1 | c.751C>G (p.Gln251Glu) | |
| 9 | g.38396499C>T | CA5063970 | ALDH1B1 | c.751C>T (p.Gln251Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.38396500A= | CA1847332478 | ALDH1B1 | c.752A= (p.Gln251=) | |
| 9 | g.38396500A>C | CA373511595 | ALDH1B1 | c.752A>C (p.Gln251Pro) | dbSNP |
| 9 | g.38396500A>G | CA373511597 | ALDH1B1 | c.752A>G (p.Gln251Arg) | gnomAD v4 |
| 9 | g.38396500A>T | CA373511599 | ALDH1B1 | c.752A>T (p.Gln251Leu) | |
| 9 | g.38396501G>A | CA465127354 | ALDH1B1 | c.753G>A (p.Gln251=) | |
| 9 | g.38396501G>C | CA373511600 | ALDH1B1 | c.753G>C (p.Gln251His) | |
| 9 | g.38396501G= | CA1847332487 | ALDH1B1 | c.753G= (p.Gln251=) | |
| 9 | g.38396501G>T | CA5063971 | ALDH1B1 | c.753G>T (p.Gln251His) | dbSNP ExAC gnomAD v2 |
| 9 | g.38396502C>A | CA373511604 | ALDH1B1 | c.754C>A (p.His252Asn) | |
| 9 | g.38396502C= | CA1847332491 | ALDH1B1 | c.754C= (p.His252=) | |
| 9 | g.38396502C>G | CA373511605 | ALDH1B1 | c.754C>G (p.His252Asp) | |
| 9 | g.38396502C>T | CA373511606 | ALDH1B1 | c.754C>T (p.His252Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.38396503A= | CA1847332495 | ALDH1B1 | c.755A= (p.His252=) | |
| 9 | g.38396503A>C | CA373511609 | ALDH1B1 | c.755A>C (p.His252Pro) | |
| 9 | g.38396503A>G | CA373511611 | ALDH1B1 | c.755A>G (p.His252Arg) | |
| 9 | g.38396503A>T | CA5063972 | ALDH1B1 | c.755A>T (p.His252Leu) | dbSNP ExAC gnomAD v2 |
| 9 | g.38396504C>A | CA373511614 | ALDH1B1 | c.756C>A (p.His252Gln) | gnomAD v4 |
| 9 | g.38396504C= | CA1847332505 | ALDH1B1 | c.756C= (p.His252=) | |
| 9 | g.38396504C>G | CA5063973 | ALDH1B1 | c.756C>G (p.His252Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.38396504C>T | CA465127355 | ALDH1B1 | c.756C>T (p.His252=) | |
| 9 | g.38396505G>A | CA289398 | ALDH1B1 | c.757G>A (p.Val253Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396505G>C | CA373511618 | ALDH1B1 | c.757G>C (p.Val253Leu) | dbSNP |
| 9 | g.38396505G= | CA1847332517 | ALDH1B1 | c.757G= (p.Val253=) | |
| 9 | g.38396505G>T | CA373511620 | ALDH1B1 | c.757G>T (p.Val253Leu) | |
| 9 | g.38396505_38396506insCCCAACAGCAGGTGCGGCCATCGCCCAGCACA | CA2690019375 | ALDH1B1 | c.757_758insCCCAACAGCAGGTGCGGCCATCGCCCAGCACA (p.Val253AlafsTer28) | gnomAD v4 |
| 9 | g.38396506T>A | CA373511624 | ALDH1B1 | c.758T>A (p.Val253Glu) | |
| 9 | g.38396506T>C | CA5063974 | ALDH1B1 | c.758T>C (p.Val253Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396506T>G | CA373511623 | ALDH1B1 | c.758T>G (p.Val253Gly) | |
| 9 | g.38396506T= | CA1847332523 | ALDH1B1 | c.758T= (p.Val253=) | |
| 9 | g.38396507G>A | CA465127359 | ALDH1B1 | c.759G>A (p.Val253=) | |
| 9 | g.38396507G>C | CA465127361 | ALDH1B1 | c.759G>C (p.Val253=) | |
| 9 | g.38396507G>T | CA465127362 | ALDH1B1 | c.759G>T (p.Val253=) | |
| 9 | g.38396508G>A | CA373511627 | ALDH1B1 | c.760G>A (p.Asp254Asn) | |
| 9 | g.38396508G>C | CA373511629 | ALDH1B1 | c.760G>C (p.Asp254His) | gnomAD v4 |
| 9 | g.38396508G>T | CA373511631 | ALDH1B1 | c.760G>T (p.Asp254Tyr) | |
| 9 | g.38396509A= | CA1847332526 | ALDH1B1 | c.761A= (p.Asp254=) | |
| 9 | g.38396509A>C | CA373511633 | ALDH1B1 | c.761A>C (p.Asp254Ala) | |
| 9 | g.38396509A>G | CA5063975 | ALDH1B1 | c.761A>G (p.Asp254Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.38396509A>T | CA192998045 | ALDH1B1 | c.761A>T (p.Asp254Val) | dbSNP |
| 9 | g.38396510T>A | CA373511638 | ALDH1B1 | c.762T>A (p.Asp254Glu) | |
| 9 | g.38396510T>C | CA465127364 | ALDH1B1 | c.762T>C (p.Asp254=) | |
| 9 | g.38396510T>G | CA373511636 | ALDH1B1 | c.762T>G (p.Asp254Glu) | |
| 9 | g.38396511G>A | CA373511641 | ALDH1B1 | c.763G>A (p.Val255Ile) | |
| 9 | g.38396511G>C | CA373511642 | ALDH1B1 | c.763G>C (p.Val255Leu) | |
| 9 | g.38396511G= | CA1847332533 | ALDH1B1 | c.763G= (p.Val255=) | |
| 9 | g.38396511G>T | CA5063976 | ALDH1B1 | c.763G>T (p.Val255Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.38396512T>A | CA373511646 | ALDH1B1 | c.764T>A (p.Val255Asp) | |
| 9 | g.38396512T>C | CA320831 | ALDH1B1 | c.764T>C (p.Val255Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396512T>G | CA373511648 | ALDH1B1 | c.764T>G (p.Val255Gly) | |
| 9 | g.38396512T= | CA1847332540 | ALDH1B1 | c.764T= (p.Val255=) | |
| 9 | g.38396513T>A | CA465127366 | ALDH1B1 | c.765T>A (p.Val255=) | dbSNP |
| 9 | g.38396513T>C | CA465127367 | ALDH1B1 | c.765T>C (p.Val255=) | |
| 9 | g.38396513T>G | CA465127368 | ALDH1B1 | c.765T>G (p.Val255=) | |
| 9 | g.38396514G>A | CA5063977 | ALDH1B1 | c.766G>A (p.Asp256Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396514G>C | CA373511653 | ALDH1B1 | c.766G>C (p.Asp256His) | |
| 9 | g.38396514G= | CA1847332548 | ALDH1B1 | c.766G= (p.Asp256=) | |
| 9 | g.38396514G>T | CA373511651 | ALDH1B1 | c.766G>T (p.Asp256Tyr) | |
| 9 | g.38396515A>C | CA373511656 | ALDH1B1 | c.767A>C (p.Asp256Ala) | |
| 9 | g.38396515A>G | CA373511657 | ALDH1B1 | c.767A>G (p.Asp256Gly) | |
| 9 | g.38396515A>T | CA373511659 | ALDH1B1 | c.767A>T (p.Asp256Val) | |
| 9 | g.38396516C>A | CA373511662 | ALDH1B1 | c.768C>A (p.Asp256Glu) | |
| 9 | g.38396516C= | CA1847332550 | ALDH1B1 | c.768C= (p.Asp256=) | |
| 9 | g.38396516C>G | CA373511663 | ALDH1B1 | c.768C>G (p.Asp256Glu) | |
| 9 | g.38396516C>T | CA5063978 | ALDH1B1 | c.768C>T (p.Asp256=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396517A>C | CA373511667 | ALDH1B1 | c.769A>C (p.Lys257Gln) | |
| 9 | g.38396517A>G | CA373511669 | ALDH1B1 | c.769A>G (p.Lys257Glu) | gnomAD v4 |
| 9 | g.38396517A>T | CA373511670 | ALDH1B1 | c.769A>T (p.Lys257Ter) | |
| 9 | g.38396518A>C | CA373511673 | ALDH1B1 | c.770A>C (p.Lys257Thr) | |
| 9 | g.38396518A>G | CA373511674 | ALDH1B1 | c.770A>G (p.Lys257Arg) | COSMIC |
| 9 | g.38396518A>T | CA373511676 | ALDH1B1 | c.770A>T (p.Lys257Ile) | |
| 9 | g.38396519A>C | CA373511677 | ALDH1B1 | c.771A>C (p.Lys257Asn) | |
| 9 | g.38396519A>G | CA465127373 | ALDH1B1 | c.771A>G (p.Lys257=) | dbSNP |
| 9 | g.38396519A>T | CA373511678 | ALDH1B1 | c.771A>T (p.Lys257Asn) | |
| 9 | g.38396520G>A | CA373511681 | ALDH1B1 | c.772G>A (p.Val258Ile) | |
| 9 | g.38396520G>C | CA373511682 | ALDH1B1 | c.772G>C (p.Val258Leu) | dbSNP |
| 9 | g.38396520G= | CA1847332553 | ALDH1B1 | c.772G= (p.Val258=) | |
| 9 | g.38396520G>T | CA373511684 | ALDH1B1 | c.772G>T (p.Val258Phe) | |
| 9 | g.38396521T>A | CA373511687 | ALDH1B1 | c.773T>A (p.Val258Asp) | |
| 9 | g.38396521T>C | CA373511688 | ALDH1B1 | c.773T>C (p.Val258Ala) | |
| 9 | g.38396521T>G | CA373511690 | ALDH1B1 | c.773T>G (p.Val258Gly) | |
| 9 | g.38396522T>A | CA465127374 | ALDH1B1 | c.774T>A (p.Val258=) | |
| 9 | g.38396522T>C | CA465127375 | ALDH1B1 | c.774T>C (p.Val258=) | |
| 9 | g.38396522T>G | CA465127377 | ALDH1B1 | c.774T>G (p.Val258=) | |
| 9 | g.38396523G>A | CA373511695 | ALDH1B1 | c.775G>A (p.Ala259Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396523G>C | CA373511693 | ALDH1B1 | c.775G>C (p.Ala259Pro) | |
| 9 | g.38396523G= | CA1847332559 | ALDH1B1 | c.775G= (p.Ala259=) | |
| 9 | g.38396523G>T | CA373511691 | ALDH1B1 | c.775G>T (p.Ala259Ser) | |
| 9 | g.38396524C>A | CA373511697 | ALDH1B1 | c.776C>A (p.Ala259Asp) | |
| 9 | g.38396524C= | CA1847332580 | ALDH1B1 | c.776C= (p.Ala259=) | |
| 9 | g.38396524C>G | CA373511698 | ALDH1B1 | c.776C>G (p.Ala259Gly) | |
| 9 | g.38396524C>T | CA373511700 | ALDH1B1 | c.776C>T (p.Ala259Val) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.38396525C>A | CA465127380 | ALDH1B1 | c.777C>A (p.Ala259=) | |
| 9 | g.38396525C= | CA1847332583 | ALDH1B1 | c.777C= (p.Ala259=) | |
| 9 | g.38396525C>G | CA465127381 | ALDH1B1 | c.777C>G (p.Ala259=) | |
| 9 | g.38396525C>T | CA465127382 | ALDH1B1 | c.777C>T (p.Ala259=) | dbSNP gnomAD v3 gnomAD v4 |