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.101424941A>C | CA374264380 | ALDOB | c.901T>G (p.Ser301Ala) | |
| 9 | g.101424941A>G | CA374264381 | ALDOB | c.901T>C (p.Ser301Pro) | gnomAD v4 COSMIC |
| 9 | g.101424941A>T | CA374264382 | ALDOB | c.901T>A (p.Ser301Thr) | |
| 9 | g.101424942G>A | CA466461908 | ALDOB | c.900C>T (p.Phe300=) | dbSNP |
| 9 | g.101424942G>C | CA374264383 | ALDOB | c.900C>G (p.Phe300Leu) | |
| 9 | g.101424942G= | CA1868278596 | ALDOB | c.900C= (p.Phe300=) | |
| 9 | g.101424942G>T | CA374264384 | ALDOB | c.900C>A (p.Phe300Leu) | COSMIC |
| 9 | g.101424943A>C | CA374264385 | ALDOB | c.899T>G (p.Phe300Cys) | |
| 9 | g.101424943A>G | CA374264386 | ALDOB | c.899T>C (p.Phe300Ser) | |
| 9 | g.101424943A>T | CA374264387 | ALDOB | c.899T>A (p.Phe300Tyr) | |
| 9 | g.101424944A>C | CA374264388 | ALDOB | c.898T>G (p.Phe300Val) | |
| 9 | g.101424944A>G | CA374264389 | ALDOB | c.898T>C (p.Phe300Leu) | |
| 9 | g.101424944A>T | CA374264390 | ALDOB | c.898T>A (p.Phe300Ile) | |
| 9 | g.101424945A= | CA1868278600 | ALDOB | c.897T= (p.Ser299=) | |
| 9 | g.101424945A>C | CA374264391 | ALDOB | c.897T>G (p.Ser299Arg) | |
| 9 | g.101424945A>G | CA466461909 | ALDOB | c.897T>C (p.Ser299=) | dbSNP gnomAD v4 |
| 9 | g.101424945A>T | CA374264392 | ALDOB | c.897T>A (p.Ser299Arg) | |
| 9 | g.101424946C>A | CA374264393 | ALDOB | c.896G>T (p.Ser299Ile) | |
| 9 | g.101424946C>G | CA374264395 | ALDOB | c.896G>C (p.Ser299Thr) | gnomAD v4 |
| 9 | g.101424946C>T | CA374264394 | ALDOB | c.896G>A (p.Ser299Asn) | |
| 9 | g.101424947T>A | CA374264396 | ALDOB | c.895A>T (p.Ser299Cys) | |
| 9 | g.101424947T>C | CA374264398 | ALDOB | c.895A>G (p.Ser299Gly) | |
| 9 | g.101424947T>G | CA374264397 | ALDOB | c.895A>C (p.Ser299Arg) | |
| 9 | g.101424948T>A | CA466461910 | ALDOB | c.894A>T (p.Leu298=) | |
| 9 | g.101424948T>C | CA466461911 | ALDOB | c.894A>G (p.Leu298=) | |
| 9 | g.101424948T>G | CA466461912 | ALDOB | c.894A>C (p.Leu298=) | |
| 9 | g.101424948_101424949del | CA2579403624 | ALDOB | c.893_894del (p.Leu298GlnfsTer?) | gnomAD v4 |
| 9 | g.101424949A>C | CA374264399 | ALDOB | c.893T>G (p.Leu298Arg) | |
| 9 | g.101424949A>G | CA374264401 | ALDOB | c.893T>C (p.Leu298Pro) | COSMIC |
| 9 | g.101424949A>T | CA374264400 | ALDOB | c.893T>A (p.Leu298Gln) | |
| 9 | g.101424950G>A | CA466461913 | ALDOB | c.892C>T (p.Leu298=) | |
| 9 | g.101424950G>C | CA374264402 | ALDOB | c.892C>G (p.Leu298Val) | |
| 9 | g.101424950G>T | CA374264403 | ALDOB | c.892C>A (p.Leu298Ile) | |
| 9 | g.101424951T>A | CA374264404 | ALDOB | c.891A>T (p.Lys297Asn) | |
| 9 | g.101424951T>C | CA466461914 | ALDOB | c.891A>G (p.Lys297=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101424951T>G | CA374264405 | ALDOB | c.891A>C (p.Lys297Asn) | |
| 9 | g.101424951T= | CA1868278603 | ALDOB | c.891A= (p.Lys297=) | |
| 9 | g.101424952T>A | CA374264406 | ALDOB | c.890A>T (p.Lys297Ile) | |
| 9 | g.101424952T>C | CA374264407 | ALDOB | c.890A>G (p.Lys297Arg) | |
| 9 | g.101424952T>G | CA374264408 | ALDOB | c.890A>C (p.Lys297Thr) | |
| 9 | g.101424953T>A | CA374264409 | ALDOB | c.889A>T (p.Lys297Ter) | |
| 9 | g.101424953T>C | CA374264410 | ALDOB | c.889A>G (p.Lys297Glu) | |
| 9 | g.101424953T>G | CA374264411 | ALDOB | c.889A>C (p.Lys297Gln) | COSMIC |
| 9 | g.101424954C>A | CA374264412 | ALDOB | c.888G>T (p.Trp296Cys) | |
| 9 | g.101424954C= | CA1868278606 | ALDOB | c.888G= (p.Trp296=) | |
| 9 | g.101424954C>G | CA374264413 | ALDOB | c.888G>C (p.Trp296Cys) | |
| 9 | g.101424954C>T | CA16041283 | ALDOB | c.888G>A (p.Trp296Ter) | ClinVar dbSNP COSMIC |
| 9 | g.101424955C>A | CA374264416 | ALDOB | c.887G>T (p.Trp296Leu) | |
| 9 | g.101424955C= | CA1868278614 | ALDOB | c.887G= (p.Trp296=) | |
| 9 | g.101424955C>G | CA374264414 | ALDOB | c.887G>C (p.Trp296Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101424955C>T | CA374264415 | ALDOB | c.887G>A (p.Trp296Ter) | ClinVar dbSNP gnomAD v4 |
| 9 | g.101424956del | CA2785321924 | ALDOB | c.886del (p.Trp296GlyfsTer3) | |
| 9 | g.101424956A>C | CA374264417 | ALDOB | c.886T>G (p.Trp296Gly) | |
| 9 | g.101424956A>G | CA374264418 | ALDOB | c.886T>C (p.Trp296Arg) | gnomAD v4 |
| 9 | g.101424956A>T | CA374264419 | ALDOB | c.886T>A (p.Trp296Arg) | |
| 9 | g.101424957G>A | CA466461915 | ALDOB | c.885C>T (p.Pro295=) | |
| 9 | g.101424957G>C | CA466461916 | ALDOB | c.885C>G (p.Pro295=) | |
| 9 | g.101424957G>T | CA466461917 | ALDOB | c.885C>A (p.Pro295=) | |
| 9 | g.101424958G>A | CA374264420 | ALDOB | c.884C>T (p.Pro295Leu) | gnomAD v4 |
| 9 | g.101424958G>C | CA374264421 | ALDOB | c.884C>G (p.Pro295Arg) | |
| 9 | g.101424958G>T | CA374264422 | ALDOB | c.884C>A (p.Pro295His) | |
| 9 | g.101424959G>A | CA374264423 | ALDOB | c.883C>T (p.Pro295Ser) | |
| 9 | g.101424959G>C | CA374264424 | ALDOB | c.883C>G (p.Pro295Ala) | |
| 9 | g.101424959G= | CA1868278620 | ALDOB | c.883C= (p.Pro295=) | |
| 9 | g.101424959G>T | CA374264425 | ALDOB | c.883C>A (p.Pro295Thr) | dbSNP |
| 9 | g.101424960C>A | CA374264426 | ALDOB | c.882G>T (p.Lys294Asn) | |
| 9 | g.101424960C>G | CA374264427 | ALDOB | c.882G>C (p.Lys294Asn) | |
| 9 | g.101424960C>T | CA466461918 | ALDOB | c.882G>A (p.Lys294=) | |
| 9 | g.101424961T>A | CA374264428 | ALDOB | c.881A>T (p.Lys294Met) | gnomAD v4 |
| 9 | g.101424961T>C | CA374264430 | ALDOB | c.881A>G (p.Lys294Arg) | |
| 9 | g.101424961T>G | CA374264429 | ALDOB | c.881A>C (p.Lys294Thr) | |
| 9 | g.101424962T>A | CA374264431 | ALDOB | c.880A>T (p.Lys294Ter) | |
| 9 | g.101424962T>C | CA374264432 | ALDOB | c.880A>G (p.Lys294Glu) | |
| 9 | g.101424962T>G | CA374264433 | ALDOB | c.880A>C (p.Lys294Gln) | |
| 9 | g.101424963T>A | CA196956609 | ALDOB | c.879A>T (p.Pro293=) | dbSNP |
| 9 | g.101424963T>C | CA466461919 | ALDOB | c.879A>G (p.Pro293=) | |
| 9 | g.101424963T>G | CA466461920 | ALDOB | c.879A>C (p.Pro293=) | |
| 9 | g.101424963T= | CA1868278623 | ALDOB | c.879A= (p.Pro293=) | |
| 9 | g.101424964G>A | CA374264434 | ALDOB | c.878C>T (p.Pro293Leu) | |
| 9 | g.101424964G>C | CA374264435 | ALDOB | c.878C>G (p.Pro293Arg) | dbSNP gnomAD v4 |
| 9 | g.101424964G= | CA1868278628 | ALDOB | c.878C= (p.Pro293=) | |
| 9 | g.101424964G>T | CA374264436 | ALDOB | c.878C>A (p.Pro293Gln) | |
| 9 | g.101424965G>A | CA374264437 | ALDOB | c.877C>T (p.Pro293Ser) | |
| 9 | g.101424965G>C | CA374264438 | ALDOB | c.877C>G (p.Pro293Ala) | |
| 9 | g.101424965G>T | CA374264439 | ALDOB | c.877C>A (p.Pro293Thr) | |
| 9 | g.101424966T>A | CA466461921 | ALDOB | c.876A>T (p.Leu292=) | |
| 9 | g.101424966T>C | CA466461923 | ALDOB | c.876A>G (p.Leu292=) | dbSNP |
| 9 | g.101424966T>G | CA466461922 | ALDOB | c.876A>C (p.Leu292=) | |
| 9 | g.101424967A= | CA1868278631 | ALDOB | c.875T= (p.Leu292=) | |
| 9 | g.101424967A>C | CA374264441 | ALDOB | c.875T>G (p.Leu292Arg) | |
| 9 | g.101424967A>G | CA5161436 | ALDOB | c.875T>C (p.Leu292Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101424967A>T | CA374264440 | ALDOB | c.875T>A (p.Leu292Gln) | |
| 9 | g.101424968G>A | CA466461924 | ALDOB | c.874C>T (p.Leu292=) | |
| 9 | g.101424968G>C | CA374264442 | ALDOB | c.874C>G (p.Leu292Val) | |
| 9 | g.101424968G>T | CA374264443 | ALDOB | c.874C>A (p.Leu292Ile) | gnomAD v4 |
| 9 | g.101424969A= | CA1868278634 | ALDOB | c.873T= (p.Pro291=) | |
| 9 | g.101424969A>C | CA466461925 | ALDOB | c.873T>G (p.Pro291=) | |
| 9 | g.101424969A>G | CA5161437 | ALDOB | c.873T>C (p.Pro291=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101424969A>T | CA5161438 | ALDOB | c.873T>A (p.Pro291=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101424970G>A | CA374264444 | ALDOB | c.872C>T (p.Pro291Leu) | |
| 9 | g.101424970G>C | CA374264445 | ALDOB | c.872C>G (p.Pro291Arg) | |
| 9 | g.101424970G>T | CA374264446 | ALDOB | c.872C>A (p.Pro291His) | gnomAD v4 |
| 9 | g.101424971G>A | CA5161439 | ALDOB | c.871C>T (p.Pro291Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101424971G>C | CA374264447 | ALDOB | c.871C>G (p.Pro291Ala) | |
| 9 | g.101424971G= | CA1868278638 | ALDOB | c.871C= (p.Pro291=) | |
| 9 | g.101424971G>T | CA374264448 | ALDOB | c.871C>A (p.Pro291Thr) | |
| 9 | g.101424972G>A | CA466461926 | ALDOB | c.870C>T (p.Cys290=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.101424972G>C | CA5161440 | ALDOB | c.870C>G (p.Cys290Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101424972G= | CA1868278639 | ALDOB | c.870C= (p.Cys290=) | |
| 9 | g.101424972G>T | CA374264449 | ALDOB | c.870C>A (p.Cys290Ter) | |
| 9 | g.101424973C>A | CA374264451 | ALDOB | c.869G>T (p.Cys290Phe) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.101424973C= | CA1868278641 | ALDOB | c.869G= (p.Cys290=) | |
| 9 | g.101424973C>G | CA374264452 | ALDOB | c.869G>C (p.Cys290Ser) | |
| 9 | g.101424973C>T | CA374264450 | ALDOB | c.869G>A (p.Cys290Tyr) | |
| 9 | g.101424974A>C | CA374264455 | ALDOB | c.868T>G (p.Cys290Gly) | |
| 9 | g.101424974A>G | CA374264453 | ALDOB | c.868T>C (p.Cys290Arg) | |
| 9 | g.101424974A>T | CA374264454 | ALDOB | c.868T>A (p.Cys290Ser) | |
| 9 | g.101424974_101424977delinsAAAG | CA1868278642 | ALDOB | c.865_868delinsCTTT (p.Leu289=) | |
| 9 | g.101424975A>C | CA466461928 | ALDOB | c.867T>G (p.Leu289=) | |
| 9 | g.101424975A>G | CA466461929 | ALDOB | c.867T>C (p.Leu289=) | |
| 9 | g.101424975A>T | CA466461927 | ALDOB | c.867T>A (p.Leu289=) | |
| 9 | g.101424975_101424977del | CA114305 | ALDOB | c.865_867del (p.Leu289del) | ClinVar dbSNP |
| 9 | g.101424976A= | CA1868278647 | ALDOB | c.866T= (p.Leu289=) | |
| 9 | g.101424976A>C | CA374264456 | ALDOB | c.866T>G (p.Leu289Arg) | dbSNP |
| 9 | g.101424976A>G | CA374264457 | ALDOB | c.866T>C (p.Leu289Pro) | |
| 9 | g.101424976A>T | CA374264458 | ALDOB | c.866T>A (p.Leu289His) | |
| 9 | g.101424976_101424977delinsAG | CA1868278646 | ALDOB | c.865_866delinsCT (p.Leu289=) | |
| 9 | g.101424977G>A | CA5161441 | ALDOB | c.865C>T (p.Leu289Phe) | dbSNP ExAC gnomAD v2 |
| 9 | g.101424977G>C | CA374264459 | ALDOB | c.865C>G (p.Leu289Val) | |
| 9 | g.101424977G= | CA1868278650 | ALDOB | c.865C= (p.Leu289=) | |
| 9 | g.101424977G>T | CA374264460 | ALDOB | c.865C>A (p.Leu289Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101424978del | CA347831 | ALDOB | c.865del (p.Leu289PhefsTer10) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101424978G>A | CA5161442 | ALDOB | c.864C>T (p.Asn288=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101424978G>C | CA374264461 | ALDOB | c.864C>G (p.Asn288Lys) | gnomAD v4 |
| 9 | g.101424978G= | CA1868278652 | ALDOB | c.864C= (p.Asn288=) | |
| 9 | g.101424978G>T | CA374264462 | ALDOB | c.864C>A (p.Asn288Lys) | dbSNP gnomAD v4 |
| 9 | g.101424979T>A | CA374264463 | ALDOB | c.863A>T (p.Asn288Ile) | |
| 9 | g.101424979T>C | CA374264465 | ALDOB | c.863A>G (p.Asn288Ser) | |
| 9 | g.101424979T>G | CA374264464 | ALDOB | c.863A>C (p.Asn288Thr) | |
| 9 | g.101424980dup | CA2691006785 | ALDOB | c.863dup (p.Asn288LysfsTer?) | gnomAD v4 |
| 9 | g.101424980T>A | CA374264466 | ALDOB | c.862A>T (p.Asn288Tyr) | |
| 9 | g.101424980T>C | CA374264467 | ALDOB | c.862A>G (p.Asn288Asp) | |
| 9 | g.101424980T>G | CA374264468 | ALDOB | c.862A>C (p.Asn288His) | |
| 9 | g.101424981G>A | CA466461930 | ALDOB | c.861C>T (p.Ile287=) | |
| 9 | g.101424981G>C | CA374264469 | ALDOB | c.861C>G (p.Ile287Met) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101424981G= | CA1868278654 | ALDOB | c.861C= (p.Ile287=) | |
| 9 | g.101424981G>T | CA466461931 | ALDOB | c.861C>A (p.Ile287=) | |
| 9 | g.101424982A>C | CA374264470 | ALDOB | c.860T>G (p.Ile287Ser) | |
| 9 | g.101424982A>G | CA374264471 | ALDOB | c.860T>C (p.Ile287Thr) | |
| 9 | g.101424982A>T | CA374264472 | ALDOB | c.860T>A (p.Ile287Asn) | gnomAD v4 |
| 9 | g.101424983T>A | CA374264473 | ALDOB | c.859A>T (p.Ile287Phe) | |
| 9 | g.101424983T>C | CA374264474 | ALDOB | c.859A>G (p.Ile287Val) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101424983T>G | CA374264475 | ALDOB | c.859A>C (p.Ile287Leu) | gnomAD v4 |
| 9 | g.101424983T= | CA1868278656 | ALDOB | c.859A= (p.Ile287=) | |
| 9 | g.101424984A>C | CA466461932 | ALDOB | c.858T>G (p.Ala286=) | ClinVar |
| 9 | g.101424984A>G | CA466461933 | ALDOB | c.858T>C (p.Ala286=) | |
| 9 | g.101424984A>T | CA466461934 | ALDOB | c.858T>A (p.Ala286=) | |
| 9 | g.101424985G>A | CA374264477 | ALDOB | c.857C>T (p.Ala286Val) | gnomAD v4 |
| 9 | g.101424985G>C | CA374264478 | ALDOB | c.857C>G (p.Ala286Gly) | |
| 9 | g.101424985G>T | CA374264476 | ALDOB | c.857C>A (p.Ala286Asp) | |
| 9 | g.101424986C>A | CA374264479 | ALDOB | c.856G>T (p.Ala286Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101424986C= | CA1868278657 | ALDOB | c.856G= (p.Ala286=) | |
| 9 | g.101424986C>G | CA374264480 | ALDOB | c.856G>C (p.Ala286Pro) | |
| 9 | g.101424986C>T | CA374264481 | ALDOB | c.856G>A (p.Ala286Thr) | dbSNP |
| 9 | g.101424987A>C | CA374264482 | ALDOB | c.855T>G (p.Asn285Lys) | |
| 9 | g.101424987A>G | CA466461935 | ALDOB | c.855T>C (p.Asn285=) | ClinVar gnomAD v4 |
| 9 | g.101424987A>T | CA374264483 | ALDOB | c.855T>A (p.Asn285Lys) | |
| 9 | g.101424988T>A | CA374264486 | ALDOB | c.854A>T (p.Asn285Ile) | |
| 9 | g.101424988T>C | CA374264485 | ALDOB | c.854A>G (p.Asn285Ser) | |
| 9 | g.101424988T>G | CA374264484 | ALDOB | c.854A>C (p.Asn285Thr) | |
| 9 | g.101424989T>A | CA374264487 | ALDOB | c.853A>T (p.Asn285Tyr) | |
| 9 | g.101424989T>C | CA5161444 | ALDOB | c.853A>G (p.Asn285Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101424989T>G | CA5161443 | ALDOB | c.853A>C (p.Asn285His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101424989T= | CA1868278659 | ALDOB | c.853A= (p.Asn285=) | |
| 9 | g.101424990G>A | CA466461936 | ALDOB | c.852C>T (p.Leu284=) | COSMIC |
| 9 | g.101424990G>C | CA466461937 | ALDOB | c.852C>G (p.Leu284=) | |
| 9 | g.101424990G>T | CA466461938 | ALDOB | c.852C>A (p.Leu284=) | |
| 9 | g.101424991A>C | CA374264488 | ALDOB | c.851T>G (p.Leu284Arg) | |
| 9 | g.101424991A>G | CA374264489 | ALDOB | c.851T>C (p.Leu284Pro) | ClinVar dbSNP gnomAD v4 |
| 9 | g.101424991A>T | CA374264490 | ALDOB | c.851T>A (p.Leu284His) | COSMIC |
| 9 | g.101424992G>A | CA374264491 | ALDOB | c.850C>T (p.Leu284Phe) | gnomAD v4 |
| 9 | g.101424992G>C | CA374264493 | ALDOB | c.850C>G (p.Leu284Val) | |
| 9 | g.101424992G>T | CA374264492 | ALDOB | c.850C>A (p.Leu284Ile) | |
| 9 | g.101424993G>A | CA5161445 | ALDOB | c.849C>T (p.Asn283=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101424993G>C | CA374264494 | ALDOB | c.849C>G (p.Asn283Lys) | |
| 9 | g.101424993G= | CA1868278661 | ALDOB | c.849C= (p.Asn283=) | |
| 9 | g.101424993G>T | CA374264495 | ALDOB | c.849C>A (p.Asn283Lys) | |
| 9 | g.101424994T>A | CA374264496 | ALDOB | c.848A>T (p.Asn283Ile) | |
| 9 | g.101424994T>C | CA374264497 | ALDOB | c.848A>G (p.Asn283Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101424994T>G | CA374264498 | ALDOB | c.848A>C (p.Asn283Thr) | |
| 9 | g.101424994T= | CA1868278663 | ALDOB | c.848A= (p.Asn283=) | |
| 9 | g.101424995T>A | CA374264499 | ALDOB | c.847A>T (p.Asn283Tyr) | |
| 9 | g.101424995T>C | CA374264500 | ALDOB | c.847A>G (p.Asn283Asp) | gnomAD v4 |
| 9 | g.101424995T>G | CA374264501 | ALDOB | c.847A>C (p.Asn283His) | |
| 9 | g.101424996G>A | CA466461941 | ALDOB | c.846C>T (p.Leu282=) | dbSNP |
| 9 | g.101424996G>C | CA466461940 | ALDOB | c.846C>G (p.Leu282=) | |
| 9 | g.101424996G= | CA1868278665 | ALDOB | c.846C= (p.Leu282=) | |
| 9 | g.101424996G>T | CA466461939 | ALDOB | c.846C>A (p.Leu282=) | dbSNP |
| 9 | g.101424997A>C | CA374264502 | ALDOB | c.845T>G (p.Leu282Arg) | |
| 9 | g.101424997A>G | CA374264503 | ALDOB | c.845T>C (p.Leu282Pro) | |
| 9 | g.101424997A>T | CA374264504 | ALDOB | c.845T>A (p.Leu282His) | |
| 9 | g.101424998G>A | CA374264506 | ALDOB | c.844C>T (p.Leu282Phe) | |
| 9 | g.101424998G>C | CA374264507 | ALDOB | c.844C>G (p.Leu282Val) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101424998G= | CA1868278667 | ALDOB | c.844C= (p.Leu282=) | |
| 9 | g.101424998G>T | CA374264505 | ALDOB | c.844C>A (p.Leu282Ile) | |
| 9 | g.101424999A= | CA1868278669 | ALDOB | c.843T= (p.Thr281=) | |
| 9 | g.101424999A>C | CA5161446 | ALDOB | c.843T>G (p.Thr281=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101424999A>G | CA196956624 | ALDOB | c.843T>C (p.Thr281=) | dbSNP |
| 9 | g.101424999A>T | CA466461942 | ALDOB | c.843T>A (p.Thr281=) | dbSNP |
| 9 | g.101425000G>A | CA374264510 | ALDOB | c.842C>T (p.Thr281Ile) | gnomAD v4 |
| 9 | g.101425000G>C | CA374264508 | ALDOB | c.842C>G (p.Thr281Ser) | |
| 9 | g.101425000G>T | CA374264509 | ALDOB | c.842C>A (p.Thr281Asn) | |
| 9 | g.101425001_101425002del | CA2499219514 | ALDOB | c.841_842del (p.Thr281SerfsTer?) | ClinVar dbSNP |
| 9 | g.101425001T>A | CA374264511 | ALDOB | c.841A>T (p.Thr281Ser) | |
| 9 | g.101425001T>C | CA374264512 | ALDOB | c.841A>G (p.Thr281Ala) | |
| 9 | g.101425001T>G | CA374264513 | ALDOB | c.841A>C (p.Thr281Pro) | |
| 9 | g.101425002G>A | CA196956625 | ALDOB | c.840C>T (p.Ala280=) | ClinVar dbSNP |
| 9 | g.101425002G>C | CA466461944 | ALDOB | c.840C>G (p.Ala280=) | |
| 9 | g.101425002G= | CA1868278672 | ALDOB | c.840C= (p.Ala280=) | |
| 9 | g.101425002G>T | CA466461943 | ALDOB | c.840C>A (p.Ala280=) | |
| 9 | g.101425003G>A | CA374264516 | ALDOB | c.839C>T (p.Ala280Val) | gnomAD v4 |
| 9 | g.101425003G>C | CA374264514 | ALDOB | c.839C>G (p.Ala280Gly) | gnomAD v4 |
| 9 | g.101425003G= | CA1868278674 | ALDOB | c.839C= (p.Ala280=) | |
| 9 | g.101425003G>T | CA374264515 | ALDOB | c.839C>A (p.Ala280Asp) | ClinVar dbSNP |
| 9 | g.101425004C>A | CA374264517 | ALDOB | c.838G>T (p.Ala280Ser) | |
| 9 | g.101425004C>G | CA374264518 | ALDOB | c.838G>C (p.Ala280Pro) | |
| 9 | g.101425004C>T | CA374264519 | ALDOB | c.838G>A (p.Ala280Thr) | |
| 9 | g.101425005A>C | CA374264520 | ALDOB | c.837T>G (p.Asp279Glu) | |
| 9 | g.101425005A>G | CA466461945 | ALDOB | c.837T>C (p.Asp279=) | gnomAD v4 |
| 9 | g.101425005A>T | CA374264521 | ALDOB | c.837T>A (p.Asp279Glu) | |
| 9 | g.101425006T>A | CA374264522 | ALDOB | c.836A>T (p.Asp279Val) | |
| 9 | g.101425006T>C | CA374264524 | ALDOB | c.836A>G (p.Asp279Gly) | |
| 9 | g.101425006T>G | CA374264523 | ALDOB | c.836A>C (p.Asp279Ala) | |
| 9 | g.101425007C>A | CA374264525 | ALDOB | c.835G>T (p.Asp279Tyr) | |
| 9 | g.101425007C= | CA1868278676 | ALDOB | c.835G= (p.Asp279=) | |
| 9 | g.101425007C>G | CA374264526 | ALDOB | c.835G>C (p.Asp279His) | |
| 9 | g.101425007C>T | CA196956626 | ALDOB | c.835G>A (p.Asp279Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101425008C>A | CA374264527 | ALDOB | c.834G>T (p.Glu278Asp) | |
| 9 | g.101425008C>G | CA374264528 | ALDOB | c.834G>C (p.Glu278Asp) | gnomAD v4 |
| 9 | g.101425008C>T | CA466461946 | ALDOB | c.834G>A (p.Glu278=) | gnomAD v4 |
| 9 | g.101425011_101425017del | CA2691006808 | ALDOB | c.828_834del (p.Ser276ArgfsTer21) | gnomAD v4 |
| 9 | g.101425009T>A | CA374264529 | ALDOB | c.833A>T (p.Glu278Val) | |
| 9 | g.101425009T>C | CA374264530 | ALDOB | c.833A>G (p.Glu278Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101425009T>G | CA374264531 | ALDOB | c.833A>C (p.Glu278Ala) | |
| 9 | g.101425009T= | CA1868278677 | ALDOB | c.833A= (p.Glu278=) | |
| 9 | g.101425010C>A | CA374264532 | ALDOB | c.832G>T (p.Glu278Ter) | |
| 9 | g.101425010C= | CA1868278679 | ALDOB | c.832G= (p.Glu278=) | |
| 9 | g.101425010C>G | CA374264533 | ALDOB | c.832G>C (p.Glu278Gln) | |
| 9 | g.101425010C>T | CA374264534 | ALDOB | c.832G>A (p.Glu278Lys) | dbSNP |
| 9 | g.101425011T>A | CA374264535 | ALDOB | c.831A>T (p.Glu277Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101425011T>C | CA466461947 | ALDOB | c.831A>G (p.Glu277=) | dbSNP |
| 9 | g.101425011T>G | CA374264536 | ALDOB | c.831A>C (p.Glu277Asp) | |
| 9 | g.101425011T= | CA1868278681 | ALDOB | c.831A= (p.Glu277=) | |
| 9 | g.101425012T>A | CA374264537 | ALDOB | c.830A>T (p.Glu277Val) | |
| 9 | g.101425012T>C | CA374264538 | ALDOB | c.830A>G (p.Glu277Gly) | |
| 9 | g.101425012T>G | CA374264539 | ALDOB | c.830A>C (p.Glu277Ala) | |
| 9 | g.101425013C>A | CA374264540 | ALDOB | c.829G>T (p.Glu277Ter) | |
| 9 | g.101425013C>G | CA374264541 | ALDOB | c.829G>C (p.Glu277Gln) | |
| 9 | g.101425013C>T | CA374264542 | ALDOB | c.829G>A (p.Glu277Lys) | gnomAD v4 |
| 9 | g.101425014A>C | CA374264544 | ALDOB | c.828T>G (p.Ser276Arg) | |
| 9 | g.101425014A>G | CA466461948 | ALDOB | c.828T>C (p.Ser276=) | ClinVar gnomAD v4 |
| 9 | g.101425014A>T | CA374264543 | ALDOB | c.828T>A (p.Ser276Arg) | |
| 9 | g.101425015C>A | CA374264545 | ALDOB | c.827G>T (p.Ser276Ile) | |
| 9 | g.101425015C>G | CA374264546 | ALDOB | c.827G>C (p.Ser276Thr) | gnomAD v4 |
| 9 | g.101425015C>T | CA374264547 | ALDOB | c.827G>A (p.Ser276Asn) | gnomAD v4 |
| 9 | g.101425016T>A | CA374264548 | ALDOB | c.826A>T (p.Ser276Cys) | |
| 9 | g.101425016T>C | CA374264549 | ALDOB | c.826A>G (p.Ser276Gly) | gnomAD v4 |
| 9 | g.101425016T>G | CA196956627 | ALDOB | c.826A>C (p.Ser276Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101425016T= | CA1868278683 | ALDOB | c.826A= (p.Ser276=) | |
| 9 | g.101425017C>A | CA374264550 | ALDOB | c.825G>T (p.Met275Ile) | |
| 9 | g.101425017C= | CA1868278685 | ALDOB | c.825G= (p.Met275=) | |
| 9 | g.101425017C>G | CA374264552 | ALDOB | c.825G>C (p.Met275Ile) | dbSNP gnomAD v4 |
| 9 | g.101425017C>T | CA374264551 | ALDOB | c.825G>A (p.Met275Ile) | gnomAD v4 |
| 9 | g.101425018A>C | CA374264553 | ALDOB | c.824T>G (p.Met275Arg) | gnomAD v4 |
| 9 | g.101425018A>G | CA374264554 | ALDOB | c.824T>C (p.Met275Thr) | |
| 9 | g.101425018A>T | CA374264555 | ALDOB | c.824T>A (p.Met275Lys) | |
| 9 | g.101425019T>A | CA374264556 | ALDOB | c.823A>T (p.Met275Leu) | |
| 9 | g.101425019T>C | CA5161447 | ALDOB | c.823A>G (p.Met275Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101425019T>G | CA374264557 | ALDOB | c.823A>C (p.Met275Leu) | |
| 9 | g.101425019T= | CA1868278687 | ALDOB | c.823A= (p.Met275=) | |
| 9 | g.101425020G>A | CA466461949 | ALDOB | c.822C>T (p.Gly274=) | dbSNP |
| 9 | g.101425020G>C | CA466461950 | ALDOB | c.822C>G (p.Gly274=) | |
| 9 | g.101425020G= | CA1868278689 | ALDOB | c.822C= (p.Gly274=) | |
| 9 | g.101425020G>T | CA466461951 | ALDOB | c.822C>A (p.Gly274=) | |
| 9 | g.101425021C>A | CA374264558 | ALDOB | c.821G>T (p.Gly274Val) | |
| 9 | g.101425021C= | CA1868278690 | ALDOB | c.821G= (p.Gly274=) | |
| 9 | g.101425021C>G | CA374264559 | ALDOB | c.821G>C (p.Gly274Ala) | |
| 9 | g.101425021C>T | CA196956629 | ALDOB | c.821G>A (p.Gly274Asp) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.101425022C>A | CA374264560 | ALDOB | c.820G>T (p.Gly274Cys) | |
| 9 | g.101425022C= | CA1868278693 | ALDOB | c.820G= (p.Gly274=) | |
| 9 | g.101425022C>G | CA374264561 | ALDOB | c.820G>C (p.Gly274Arg) | |
| 9 | g.101425022C>T | CA5161448 | ALDOB | c.820G>A (p.Gly274Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101425023A= | CA1868278695 | ALDOB | c.819T= (p.Gly273=) | |
| 9 | g.101425023A>C | CA466461953 | ALDOB | c.819T>G (p.Gly273=) | dbSNP |
| 9 | g.101425023A>G | CA466461952 | ALDOB | c.819T>C (p.Gly273=) | ClinVar dbSNP |
| 9 | g.101425023A>T | CA5161449 | ALDOB | c.819T>A (p.Gly273=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101425024C>A | CA374264562 | ALDOB | c.818G>T (p.Gly273Val) | |
| 9 | g.101425024C= | CA1868278697 | ALDOB | c.818G= (p.Gly273=) | |
| 9 | g.101425024C>G | CA5161451 | ALDOB | c.818G>C (p.Gly273Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101425024C>T | CA5161450 | ALDOB | c.818G>A (p.Gly273Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101425025C>A | CA5161453 | ALDOB | c.817G>T (p.Gly273Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101425025C= | CA1868278699 | ALDOB | c.817G= (p.Gly273=) | |
| 9 | g.101425025C>G | CA374264563 | ALDOB | c.817G>C (p.Gly273Arg) | |
| 9 | g.101425025C>T | CA5161452 | ALDOB | c.817G>A (p.Gly273Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101425026A>C | CA466461954 | ALDOB | c.816T>G (p.Ser272=) | |
| 9 | g.101425026A>G | CA466461955 | ALDOB | c.816T>C (p.Ser272=) | |
| 9 | g.101425026A>T | CA466461956 | ALDOB | c.816T>A (p.Ser272=) | |
| 9 | g.101425027G>A | CA374264564 | ALDOB | c.815C>T (p.Ser272Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101425027G>C | CA374264565 | ALDOB | c.815C>G (p.Ser272Cys) | |
| 9 | g.101425027G= | CA1868278702 | ALDOB | c.815C= (p.Ser272=) | |
| 9 | g.101425027G>T | CA374264566 | ALDOB | c.815C>A (p.Ser272Tyr) | dbSNP |
| 9 | g.101425028A= | CA1868278705 | ALDOB | c.814T= (p.Ser272=) | |
| 9 | g.101425028A>C | CA374264567 | ALDOB | c.814T>G (p.Ser272Ala) | |
| 9 | g.101425028A>G | CA374264568 | ALDOB | c.814T>C (p.Ser272Pro) | |
| 9 | g.101425028A>T | CA5161454 | ALDOB | c.814T>A (p.Ser272Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101425028_101425029delinsAC | CA1868278704 | ALDOB | c.813_814delinsGT (p.Leu271=) | |
| 9 | g.101425029_101425030del | CA913142079 | ALDOB | c.813_814del (p.Leu271PhefsTer6) | |
| 9 | g.101425029del | CA590045526 | ALDOB | c.813del (p.Leu271PhefsTer5) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101425029C>A | CA374264569 | ALDOB | c.813G>T (p.Leu271Phe) | |
| 9 | g.101425029C= | CA1868278708 | ALDOB | c.813G= (p.Leu271=) | |
| 9 | g.101425029C>G | CA374264570 | ALDOB | c.813G>C (p.Leu271Phe) | gnomAD v4 |
| 9 | g.101425029C>T | CA466461957 | ALDOB | c.813G>A (p.Leu271=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101425029_101425030delinsCA | CA1868278709 | ALDOB | c.812_813delinsTG (p.Leu271=) | |
| 9 | g.101425030A>C | CA374264573 | ALDOB | c.812T>G (p.Leu271Trp) | |
| 9 | g.101425030A>G | CA374264572 | ALDOB | c.812T>C (p.Leu271Ser) | ClinVar dbSNP gnomAD v4 |
| 9 | g.101425030A>T | CA374264571 | ALDOB | c.812T>A (p.Leu271Ter) | |
| 9 | g.101425034del | CA658821561 | ALDOB | c.812del (p.Leu271CysfsTer5) | ClinVar dbSNP |
| 9 | g.101425031A= | CA1868278713 | ALDOB | c.811T= (p.Leu271=) | |
| 9 | g.101425031A>C | CA374264574 | ALDOB | c.811T>G (p.Leu271Val) | |
| 9 | g.101425031A>G | CA196956638 | ALDOB | c.811T>C (p.Leu271=) | dbSNP |
| 9 | g.101425031A>T | CA374264575 | ALDOB | c.811T>A (p.Leu271Met) | |
| 9 | g.101425032A= | CA1868278715 | ALDOB | c.810T= (p.Phe270=) | |
| 9 | g.101425032A>C | CA374264576 | ALDOB | c.810T>G (p.Phe270Leu) | |
| 9 | g.101425032A>G | CA466461958 | ALDOB | c.810T>C (p.Phe270=) | dbSNP gnomAD v2 |
| 9 | g.101425032A>T | CA374264577 | ALDOB | c.810T>A (p.Phe270Leu) | |
| 9 | g.101425033A>C | CA374264578 | ALDOB | c.809T>G (p.Phe270Cys) | |
| 9 | g.101425033A>G | CA374264579 | ALDOB | c.809T>C (p.Phe270Ser) | |
| 9 | g.101425033A>T | CA374264580 | ALDOB | c.809T>A (p.Phe270Tyr) | |
| 9 | g.101425033_101425036delinsAAGC | CA1868278717 | ALDOB | c.806_809delinsGCTT (p.Cys269=) | |
| 9 | g.101425034_101425037del | CA913142080 | ALDOB | c.806_809del (p.Cys269PhefsTer6) | |
| 9 | g.101425034A>C | CA374264581 | ALDOB | c.808T>G (p.Phe270Val) | |
| 9 | g.101425034A>G | CA374264582 | ALDOB | c.808T>C (p.Phe270Leu) | |
| 9 | g.101425034A>T | CA374264583 | ALDOB | c.808T>A (p.Phe270Ile) | |
| 9 | g.101425036_101425038del | CA590045527 | ALDOB | c.806_808del (p.Cys269del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101425035G>A | CA466461959 | ALDOB | c.807C>T (p.Cys269=) | |
| 9 | g.101425035G>C | CA374264584 | ALDOB | c.807C>G (p.Cys269Trp) | |
| 9 | g.101425035G>T | CA374264585 | ALDOB | c.807C>A (p.Cys269Ter) | |
| 9 | g.101425036C>A | CA374264587 | ALDOB | c.806G>T (p.Cys269Phe) | |
| 9 | g.101425036C>G | CA374264588 | ALDOB | c.806G>C (p.Cys269Ser) | gnomAD v4 |
| 9 | g.101425036C>T | CA374264586 | ALDOB | c.806G>A (p.Cys269Tyr) | gnomAD v4 |
| 9 | g.101425037A>C | CA374264589 | ALDOB | c.805T>G (p.Cys269Gly) | |
| 9 | g.101425037A>G | CA374264590 | ALDOB | c.805T>C (p.Cys269Arg) | |
| 9 | g.101425037A>T | CA374264591 | ALDOB | c.805T>A (p.Cys269Ser) | |
| 9 | g.101425038G>A | CA466461960 | ALDOB | c.804C>T (p.Ile268=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101425038G>C | CA374264592 | ALDOB | c.804C>G (p.Ile268Met) | |
| 9 | g.101425038G= | CA1868278721 | ALDOB | c.804C= (p.Ile268=) | |
| 9 | g.101425038G>T | CA466461961 | ALDOB | c.804C>A (p.Ile268=) | |
| 9 | g.101425039A= | CA1868278723 | ALDOB | c.803T= (p.Ile268=) | |
| 9 | g.101425039A>C | CA374264593 | ALDOB | c.803T>G (p.Ile268Ser) | |
| 9 | g.101425039A>G | CA374264594 | ALDOB | c.803T>C (p.Ile268Thr) | |
| 9 | g.101425039A>T | CA196956641 | ALDOB | c.803T>A (p.Ile268Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101425040T>A | CA374264595 | ALDOB | c.802A>T (p.Ile268Phe) | |
| 9 | g.101425040T>C | CA374264596 | ALDOB | c.802A>G (p.Ile268Val) | |
| 9 | g.101425040T>G | CA374264597 | ALDOB | c.802A>C (p.Ile268Leu) | |
| 9 | g.101425041G>A | CA466461962 | ALDOB | c.801C>T (p.Gly267=) | gnomAD v4 |
| 9 | g.101425041G>C | CA466461963 | ALDOB | c.801C>G (p.Gly267=) | |
| 9 | g.101425041G>T | CA466461964 | ALDOB | c.801C>A (p.Gly267=) |