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.101425219_101426793del | CA2499219516 | ALDOB | c.541-153_800-175del | ClinVar |
| 9 | g.101425462_101425473dup | CA2720258646 | ALDOB | c.788_799dup (p.Pro266_Gly267insAlaAlaValPro) | dbSNP |
| 9 | g.101425459C>A | CA374264622 | ALDOB | c.793G>T (p.Val265Phe) | |
| 9 | g.101425459C>G | CA374264623 | ALDOB | c.793G>C (p.Val265Leu) | gnomAD v4 |
| 9 | g.101425459C>T | CA374264624 | ALDOB | c.793G>A (p.Val265Ile) | |
| 9 | g.101425460A>C | CA466461973 | ALDOB | c.792T>G (p.Ala264=) | |
| 9 | g.101425460A>G | CA466461974 | ALDOB | c.792T>C (p.Ala264=) | gnomAD v4 |
| 9 | g.101425460A>T | CA466461975 | ALDOB | c.792T>A (p.Ala264=) | |
| 9 | g.101425461G>A | CA5161476 | ALDOB | c.791C>T (p.Ala264Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101425461G>C | CA374264625 | ALDOB | c.791C>G (p.Ala264Gly) | |
| 9 | g.101425461G= | CA1868279015 | ALDOB | c.791C= (p.Ala264=) | |
| 9 | g.101425461G>T | CA374264626 | ALDOB | c.791C>A (p.Ala264Asp) | |
| 9 | g.101425462C>A | CA374264627 | ALDOB | c.790G>T (p.Ala264Ser) | |
| 9 | g.101425462C>G | CA374264629 | ALDOB | c.790G>C (p.Ala264Pro) | |
| 9 | g.101425462C>T | CA374264628 | ALDOB | c.790G>A (p.Ala264Thr) | |
| 9 | g.101425463T>A | CA466461976 | ALDOB | c.789A>T (p.Ala263=) | |
| 9 | g.101425463T>C | CA466461977 | ALDOB | c.789A>G (p.Ala263=) | |
| 9 | g.101425463T>G | CA466461978 | ALDOB | c.789A>C (p.Ala263=) | |
| 9 | g.101425464G>A | CA374264630 | ALDOB | c.788C>T (p.Ala263Val) | |
| 9 | g.101425464G>C | CA374264631 | ALDOB | c.788C>G (p.Ala263Gly) | |
| 9 | g.101425464G>T | CA374264632 | ALDOB | c.788C>A (p.Ala263Glu) | |
| 9 | g.101425465C>A | CA374264633 | ALDOB | c.787G>T (p.Ala263Ser) | gnomAD v4 |
| 9 | g.101425465C= | CA1868279016 | ALDOB | c.787G= (p.Ala263=) | |
| 9 | g.101425465C>G | CA374264634 | ALDOB | c.787G>C (p.Ala263Pro) | |
| 9 | g.101425465C>T | CA374264635 | ALDOB | c.787G>A (p.Ala263Thr) | dbSNP gnomAD v4 |
| 9 | g.101425466A= | CA1868279018 | ALDOB | c.786T= (p.Pro262=) | |
| 9 | g.101425466A>C | CA466461979 | ALDOB | c.786T>G (p.Pro262=) | |
| 9 | g.101425466A>G | CA466461981 | ALDOB | c.786T>C (p.Pro262=) | |
| 9 | g.101425466A>T | CA466461980 | ALDOB | c.786T>A (p.Pro262=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101425467G>A | CA374264636 | ALDOB | c.785C>T (p.Pro262Leu) | |
| 9 | g.101425467G>C | CA374264637 | ALDOB | c.785C>G (p.Pro262Arg) | |
| 9 | g.101425467G>T | CA374264638 | ALDOB | c.785C>A (p.Pro262His) | gnomAD v4 |
| 9 | g.101425468G>A | CA374264639 | ALDOB | c.784C>T (p.Pro262Ser) | |
| 9 | g.101425468G>C | CA374264640 | ALDOB | c.784C>G (p.Pro262Ala) | |
| 9 | g.101425468G>T | CA374264641 | ALDOB | c.784C>A (p.Pro262Thr) | |
| 9 | g.101425469A>C | CA466461982 | ALDOB | c.783T>G (p.Val261=) | |
| 9 | g.101425469A>G | CA466461983 | ALDOB | c.783T>C (p.Val261=) | |
| 9 | g.101425469A>T | CA466461984 | ALDOB | c.783T>A (p.Val261=) | |
| 9 | g.101425470A>C | CA374264643 | ALDOB | c.782T>G (p.Val261Gly) | |
| 9 | g.101425470A>G | CA374264644 | ALDOB | c.782T>C (p.Val261Ala) | |
| 9 | g.101425470A>T | CA374264642 | ALDOB | c.782T>A (p.Val261Asp) | |
| 9 | g.101425471C>A | CA374264645 | ALDOB | c.781G>T (p.Val261Phe) | |
| 9 | g.101425471C>G | CA374264647 | ALDOB | c.781G>C (p.Val261Leu) | gnomAD v4 |
| 9 | g.101425471C>T | CA374264646 | ALDOB | c.781G>A (p.Val261Ile) | gnomAD v4 |
| 9 | g.101425472A= | CA1868279020 | ALDOB | c.780T= (p.Thr260=) | |
| 9 | g.101425472A>C | CA466461985 | ALDOB | c.780T>G (p.Thr260=) | |
| 9 | g.101425472A>G | CA196956750 | ALDOB | c.780T>C (p.Thr260=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101425472A>T | CA466461986 | ALDOB | c.780T>A (p.Thr260=) | |
| 9 | g.101425473G>A | CA374264648 | ALDOB | c.779C>T (p.Thr260Ile) | |
| 9 | g.101425473G>C | CA374264649 | ALDOB | c.779C>G (p.Thr260Ser) | |
| 9 | g.101425473G>T | CA374264650 | ALDOB | c.779C>A (p.Thr260Asn) | |
| 9 | g.101425474T>A | CA196956752 | ALDOB | c.778A>T (p.Thr260Ser) | dbSNP |
| 9 | g.101425474T>C | CA374264651 | ALDOB | c.778A>G (p.Thr260Ala) | |
| 9 | g.101425474T>G | CA374264652 | ALDOB | c.778A>C (p.Thr260Pro) | |
| 9 | g.101425474T= | CA1868279022 | ALDOB | c.778A= (p.Thr260=) | |
| 9 | g.101425475A= | CA1868279024 | ALDOB | c.777T= (p.Arg259=) | |
| 9 | g.101425475A>C | CA466461988 | ALDOB | c.777T>G (p.Arg259=) | |
| 9 | g.101425475A>G | CA466461989 | ALDOB | c.777T>C (p.Arg259=) | |
| 9 | g.101425475A>T | CA466461987 | ALDOB | c.777T>A (p.Arg259=) | dbSNP |
| 9 | g.101425476C>A | CA374264653 | ALDOB | c.776G>T (p.Arg259Leu) | |
| 9 | g.101425476C= | CA1868279026 | ALDOB | c.776G= (p.Arg259=) | |
| 9 | g.101425476C>G | CA374264654 | ALDOB | c.776G>C (p.Arg259Pro) | |
| 9 | g.101425476C>T | CA5161477 | ALDOB | c.776G>A (p.Arg259His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101425477G>A | CA5161478 | ALDOB | c.775C>T (p.Arg259Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.101425477G>C | CA374264655 | ALDOB | c.775C>G (p.Arg259Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101425477G= | CA1868279028 | ALDOB | c.775C= (p.Arg259=) | |
| 9 | g.101425477G>T | CA374264656 | ALDOB | c.775C>A (p.Arg259Ser) | dbSNP |
| 9 | g.101425478G>A | CA466461990 | ALDOB | c.774C>T (p.His258=) | ClinVar dbSNP |
| 9 | g.101425478G>C | CA374264657 | ALDOB | c.774C>G (p.His258Gln) | |
| 9 | g.101425478G= | CA1868279030 | ALDOB | c.774C= (p.His258=) | |
| 9 | g.101425478G>T | CA374264658 | ALDOB | c.774C>A (p.His258Gln) | |
| 9 | g.101425479T>A | CA374264659 | ALDOB | c.773A>T (p.His258Leu) | |
| 9 | g.101425479T>C | CA374264660 | ALDOB | c.773A>G (p.His258Arg) | |
| 9 | g.101425479T>G | CA374264661 | ALDOB | c.773A>C (p.His258Pro) | |
| 9 | g.101425480G>A | CA374264662 | ALDOB | c.772C>T (p.His258Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101425480G>C | CA5161479 | ALDOB | c.772C>G (p.His258Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101425480G= | CA1868279032 | ALDOB | c.772C= (p.His258=) | |
| 9 | g.101425480G>T | CA374264663 | ALDOB | c.772C>A (p.His258Asn) | dbSNP gnomAD v4 |
| 9 | g.101425481G>A | CA466461991 | ALDOB | c.771C>T (p.Leu257=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101425481G>C | CA466461992 | ALDOB | c.771C>G (p.Leu257=) | dbSNP |
| 9 | g.101425481G= | CA1868279034 | ALDOB | c.771C= (p.Leu257=) | |
| 9 | g.101425481G>T | CA466461993 | ALDOB | c.771C>A (p.Leu257=) | |
| 9 | g.101425482A= | CA1868279036 | ALDOB | c.770T= (p.Leu257=) | |
| 9 | g.101425482A>C | CA374264664 | ALDOB | c.770T>G (p.Leu257Arg) | |
| 9 | g.101425482A>G | CA5161480 | ALDOB | c.770T>C (p.Leu257Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101425482A>T | CA374264665 | ALDOB | c.770T>A (p.Leu257His) | |
| 9 | g.101425483G>A | CA374264666 | ALDOB | c.769C>T (p.Leu257Phe) | |
| 9 | g.101425483G>C | CA374264667 | ALDOB | c.769C>G (p.Leu257Val) | dbSNP |
| 9 | g.101425483G= | CA1868279038 | ALDOB | c.769C= (p.Leu257=) | |
| 9 | g.101425483G>T | CA374264668 | ALDOB | c.769C>A (p.Leu257Ile) | |
| 9 | g.101425484A= | CA1868279040 | ALDOB | c.768T= (p.Ala256=) | |
| 9 | g.101425484A>C | CA466461994 | ALDOB | c.768T>G (p.Ala256=) | |
| 9 | g.101425484A>G | CA466461995 | ALDOB | c.768T>C (p.Ala256=) | dbSNP gnomAD v4 |
| 9 | g.101425484A>T | CA466461996 | ALDOB | c.768T>A (p.Ala256=) | |
| 9 | g.101425485G>A | CA374264669 | ALDOB | c.767C>T (p.Ala256Val) | gnomAD v4 |
| 9 | g.101425485G>C | CA374264671 | ALDOB | c.767C>G (p.Ala256Gly) | |
| 9 | g.101425485G>T | CA374264670 | ALDOB | c.767C>A (p.Ala256Asp) | |
| 9 | g.101425486C>A | CA5161481 | ALDOB | c.766G>T (p.Ala256Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101425486C= | CA1868279043 | ALDOB | c.766G= (p.Ala256=) | |
| 9 | g.101425486C>G | CA374264672 | ALDOB | c.766G>C (p.Ala256Pro) | |
| 9 | g.101425486C>T | CA374264673 | ALDOB | c.766G>A (p.Ala256Thr) | dbSNP gnomAD v4 |
| 9 | g.101425487T>A | CA466461997 | ALDOB | c.765A>T (p.Thr255=) | dbSNP |
| 9 | g.101425487T>C | CA466461998 | ALDOB | c.765A>G (p.Thr255=) | |
| 9 | g.101425487T>G | CA466461999 | ALDOB | c.765A>C (p.Thr255=) | |
| 9 | g.101425487T= | CA1868279045 | ALDOB | c.765A= (p.Thr255=) | |
| 9 | g.101425488G>A | CA374264674 | ALDOB | c.764C>T (p.Thr255Ile) | gnomAD v4 |
| 9 | g.101425488G>C | CA196956763 | ALDOB | c.764C>G (p.Thr255Arg) | dbSNP |
| 9 | g.101425488G= | CA1868279047 | ALDOB | c.764C= (p.Thr255=) | |
| 9 | g.101425488G>T | CA374264675 | ALDOB | c.764C>A (p.Thr255Lys) | |
| 9 | g.101425489T>A | CA374264676 | ALDOB | c.763A>T (p.Thr255Ser) | |
| 9 | g.101425489T>C | CA374264677 | ALDOB | c.763A>G (p.Thr255Ala) | |
| 9 | g.101425489T>G | CA374264678 | ALDOB | c.763A>C (p.Thr255Pro) | |
| 9 | g.101425490T>A | CA466462000 | ALDOB | c.762A>T (p.Val254=) | |
| 9 | g.101425490T>C | CA466462001 | ALDOB | c.762A>G (p.Val254=) | |
| 9 | g.101425490T>G | CA466462002 | ALDOB | c.762A>C (p.Val254=) | ClinVar dbSNP |
| 9 | g.101425490T= | CA1868279049 | ALDOB | c.762A= (p.Val254=) | |
| 9 | g.101425491A>C | CA374264679 | ALDOB | c.761T>G (p.Val254Gly) | |
| 9 | g.101425491A>G | CA374264680 | ALDOB | c.761T>C (p.Val254Ala) | |
| 9 | g.101425491A>T | CA374264681 | ALDOB | c.761T>A (p.Val254Glu) | |
| 9 | g.101425491dup | CA2499219517 | ALDOB | c.761dup (p.Thr255AsnfsTer23) | ClinVar dbSNP |
| 9 | g.101425492C>A | CA374264683 | ALDOB | c.760G>T (p.Val254Leu) | gnomAD v4 |
| 9 | g.101425492C= | CA1868279052 | ALDOB | c.760G= (p.Val254=) | |
| 9 | g.101425492C>G | CA374264682 | ALDOB | c.760G>C (p.Val254Leu) | |
| 9 | g.101425492C>T | CA5161482 | ALDOB | c.760G>A (p.Val254Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101425493G>A | CA5161483 | ALDOB | c.759C>T (p.Thr253=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101425493G>C | CA466462003 | ALDOB | c.759C>G (p.Thr253=) | |
| 9 | g.101425493G= | CA1868279056 | ALDOB | c.759C= (p.Thr253=) | |
| 9 | g.101425493G>T | CA5161484 | ALDOB | c.759C>A (p.Thr253=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101425494G>A | CA196956776 | ALDOB | c.758C>T (p.Thr253Ile) | dbSNP gnomAD v4 COSMIC |
| 9 | g.101425494G>C | CA374264684 | ALDOB | c.758C>G (p.Thr253Ser) | |
| 9 | g.101425494G= | CA1868279058 | ALDOB | c.758C= (p.Thr253=) | |
| 9 | g.101425494G>T | CA5161485 | ALDOB | c.758C>A (p.Thr253Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101425495T>A | CA374264685 | ALDOB | c.757A>T (p.Thr253Ser) | |
| 9 | g.101425495T>C | CA5161486 | ALDOB | c.757A>G (p.Thr253Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101425495T>G | CA374264686 | ALDOB | c.757A>C (p.Thr253Pro) | |
| 9 | g.101425495T= | CA1868279060 | ALDOB | c.757A= (p.Thr253=) | |
| 9 | g.101425496G>A | CA466462004 | ALDOB | c.756C>T (p.Ala252=) | ClinVar |
| 9 | g.101425496G>C | CA466462006 | ALDOB | c.756C>G (p.Ala252=) | |
| 9 | g.101425496G= | CA1868279061 | ALDOB | c.756C= (p.Ala252=) | |
| 9 | g.101425496G>T | CA466462005 | ALDOB | c.756C>A (p.Ala252=) | dbSNP |
| 9 | g.101425497G>A | CA374264687 | ALDOB | c.755C>T (p.Ala252Val) | |
| 9 | g.101425497G>C | CA374264688 | ALDOB | c.755C>G (p.Ala252Gly) | |
| 9 | g.101425497G>T | CA374264689 | ALDOB | c.755C>A (p.Ala252Asp) | |
| 9 | g.101425498C>A | CA374264692 | ALDOB | c.754G>T (p.Ala252Ser) | |
| 9 | g.101425498C= | CA1868279063 | ALDOB | c.754G= (p.Ala252=) | |
| 9 | g.101425498C>G | CA374264691 | ALDOB | c.754G>C (p.Ala252Pro) | |
| 9 | g.101425498C>T | CA374264690 | ALDOB | c.754G>A (p.Ala252Thr) | dbSNP |
| 9 | g.101425499C>A | CA374264693 | ALDOB | c.753G>T (p.Met251Ile) | |
| 9 | g.101425499C= | CA1868279065 | ALDOB | c.753G= (p.Met251=) | |
| 9 | g.101425499C>G | CA374264695 | ALDOB | c.753G>C (p.Met251Ile) | |
| 9 | g.101425499C>T | CA374264694 | ALDOB | c.753G>A (p.Met251Ile) | dbSNP |
| 9 | g.101425500A= | CA1868279067 | ALDOB | c.752T= (p.Met251=) | |
| 9 | g.101425500A>C | CA374264696 | ALDOB | c.752T>G (p.Met251Arg) | |
| 9 | g.101425500A>G | CA374264698 | ALDOB | c.752T>C (p.Met251Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101425500A>T | CA374264697 | ALDOB | c.752T>A (p.Met251Lys) | |
| 9 | g.101425501T>A | CA374264699 | ALDOB | c.751A>T (p.Met251Leu) | |
| 9 | g.101425501T>C | CA374264700 | ALDOB | c.751A>G (p.Met251Val) | dbSNP gnomAD v4 |
| 9 | g.101425501T>G | CA374264701 | ALDOB | c.751A>C (p.Met251Leu) | dbSNP gnomAD v4 |
| 9 | g.101425501T= | CA1868279069 | ALDOB | c.751A= (p.Met251=) | |
| 9 | g.101425502A= | CA1868279071 | ALDOB | c.750T= (p.Ala250=) | |
| 9 | g.101425502A>C | CA466462007 | ALDOB | c.750T>G (p.Ala250=) | |
| 9 | g.101425502A>G | CA466462008 | ALDOB | c.750T>C (p.Ala250=) | |
| 9 | g.101425502A>T | CA5161487 | ALDOB | c.750T>A (p.Ala250=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101425503G>A | CA374264702 | ALDOB | c.749C>T (p.Ala250Val) | |
| 9 | g.101425503G>C | CA374264703 | ALDOB | c.749C>G (p.Ala250Gly) | |
| 9 | g.101425503G>T | CA374264704 | ALDOB | c.749C>A (p.Ala250Asp) | |
| 9 | g.101425504C>A | CA5161488 | ALDOB | c.748G>T (p.Ala250Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101425504C= | CA1868279073 | ALDOB | c.748G= (p.Ala250=) | |
| 9 | g.101425504C>G | CA374264705 | ALDOB | c.748G>C (p.Ala250Pro) | |
| 9 | g.101425504C>T | CA374264706 | ALDOB | c.748G>A (p.Ala250Thr) | gnomAD v4 |
| 9 | g.101425505T>A | CA466462009 | ALDOB | c.747A>T (p.Val249=) | |
| 9 | g.101425505T>C | CA196956781 | ALDOB | c.747A>G (p.Val249=) | dbSNP |
| 9 | g.101425505T>G | CA466462010 | ALDOB | c.747A>C (p.Val249=) | |
| 9 | g.101425505T= | CA1868279075 | ALDOB | c.747A= (p.Val249=) | |
| 9 | g.101425506A>C | CA374264709 | ALDOB | c.746T>G (p.Val249Gly) | |
| 9 | g.101425506A>G | CA374264708 | ALDOB | c.746T>C (p.Val249Ala) | |
| 9 | g.101425506A>T | CA374264707 | ALDOB | c.746T>A (p.Val249Glu) | |
| 9 | g.101425507C>A | CA374264710 | ALDOB | c.745G>T (p.Val249Leu) | |
| 9 | g.101425507C>G | CA374264711 | ALDOB | c.745G>C (p.Val249Leu) | |
| 9 | g.101425507C>T | CA374264712 | ALDOB | c.745G>A (p.Val249Ile) | ClinVar |
| 9 | g.101425507_101425509delinsCTT | CA1868279077 | ALDOB | c.743_745delinsAAG (p.Gln248=) | |
| 9 | g.101425508T>A | CA374264713 | ALDOB | c.744A>T (p.Gln248His) | |
| 9 | g.101425508T>C | CA466462011 | ALDOB | c.744A>G (p.Gln248=) | dbSNP |
| 9 | g.101425508T>G | CA374264714 | ALDOB | c.744A>C (p.Gln248His) | |
| 9 | g.101425508T= | CA1868279079 | ALDOB | c.744A= (p.Gln248=) | |
| 9 | g.101425508_101425509del | CA918520488 | ALDOB | c.743_744del (p.Gln248ArgfsTer29) | dbSNP |
| 9 | g.101425509T>A | CA374264715 | ALDOB | c.743A>T (p.Gln248Leu) | |
| 9 | g.101425509T>C | CA374264716 | ALDOB | c.743A>G (p.Gln248Arg) | |
| 9 | g.101425509T>G | CA374264717 | ALDOB | c.743A>C (p.Gln248Pro) | |
| 9 | g.101425510G>A | CA374264718 | ALDOB | c.742C>T (p.Gln248Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101425510G>C | CA374264719 | ALDOB | c.742C>G (p.Gln248Glu) | |
| 9 | g.101425510G= | CA1868279081 | ALDOB | c.742C= (p.Gln248=) | |
| 9 | g.101425510G>T | CA374264720 | ALDOB | c.742C>A (p.Gln248Lys) | dbSNP |
| 9 | g.101425511T>A | CA374264722 | ALDOB | c.741A>T (p.Glu247Asp) | |
| 9 | g.101425511T>C | CA196956784 | ALDOB | c.741A>G (p.Glu247=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.101425511T>G | CA374264721 | ALDOB | c.741A>C (p.Glu247Asp) | |
| 9 | g.101425511T= | CA1868279083 | ALDOB | c.741A= (p.Glu247=) | |
| 9 | g.101425512T>A | CA374264723 | ALDOB | c.740A>T (p.Glu247Val) | |
| 9 | g.101425512T>C | CA374264724 | ALDOB | c.740A>G (p.Glu247Gly) | dbSNP |
| 9 | g.101425512T>G | CA374264725 | ALDOB | c.740A>C (p.Glu247Ala) | |
| 9 | g.101425512T= | CA1868279085 | ALDOB | c.740A= (p.Glu247=) | |
| 9 | g.101425513C>A | CA196956786 | ALDOB | c.739G>T (p.Glu247Ter) | dbSNP |
| 9 | g.101425513C= | CA1868279087 | ALDOB | c.739G= (p.Glu247=) | |
| 9 | g.101425513C>G | CA374264726 | ALDOB | c.739G>C (p.Glu247Gln) | |
| 9 | g.101425513C>T | CA374264727 | ALDOB | c.739G>A (p.Glu247Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101425514T>A | CA466462013 | ALDOB | c.738A>T (p.Pro246=) | COSMIC |
| 9 | g.101425514T>C | CA5161489 | ALDOB | c.738A>G (p.Pro246=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101425514T>G | CA466462012 | ALDOB | c.738A>C (p.Pro246=) | |
| 9 | g.101425514T= | CA1868279089 | ALDOB | c.738A= (p.Pro246=) | |
| 9 | g.101425515G>A | CA374264728 | ALDOB | c.737C>T (p.Pro246Leu) | |
| 9 | g.101425515G>C | CA374264729 | ALDOB | c.737C>G (p.Pro246Arg) | |
| 9 | g.101425515G>T | CA374264730 | ALDOB | c.737C>A (p.Pro246Gln) | |
| 9 | g.101425515_101425516insAG | CA918520489 | ALDOB | c.737_738insTC (p.Glu247GlnfsTer4) | dbSNP |
| 9 | g.101425516G>A | CA374264731 | ALDOB | c.736C>T (p.Pro246Ser) | |
| 9 | g.101425516G>C | CA196956789 | ALDOB | c.736C>G (p.Pro246Ala) | dbSNP |
| 9 | g.101425516G= | CA1868279093 | ALDOB | c.736C= (p.Pro246=) | |
| 9 | g.101425516G>T | CA374264732 | ALDOB | c.736C>A (p.Pro246Thr) | |
| 9 | g.101425517A= | CA1868279095 | ALDOB | c.735T= (p.Thr245=) | |
| 9 | g.101425517A>C | CA466462014 | ALDOB | c.735T>G (p.Thr245=) | |
| 9 | g.101425517A>G | CA466462016 | ALDOB | c.735T>C (p.Thr245=) | ClinVar dbSNP |
| 9 | g.101425517A>T | CA466462015 | ALDOB | c.735T>A (p.Thr245=) | dbSNP |
| 9 | g.101425518G>A | CA374264733 | ALDOB | c.734C>T (p.Thr245Ile) | gnomAD v4 |
| 9 | g.101425518G>C | CA374264735 | ALDOB | c.734C>G (p.Thr245Ser) | |
| 9 | g.101425518G>T | CA374264734 | ALDOB | c.734C>A (p.Thr245Asn) | |
| 9 | g.101425519T>A | CA374264736 | ALDOB | c.733A>T (p.Thr245Ser) | |
| 9 | g.101425519T>C | CA5161490 | ALDOB | c.733A>G (p.Thr245Ala) | ClinVar dbSNP ExAC gnomAD v2 |
| 9 | g.101425519T>G | CA374264737 | ALDOB | c.733A>C (p.Thr245Pro) | dbSNP |
| 9 | g.101425519T= | CA1868279097 | ALDOB | c.733A= (p.Thr245=) | |
| 9 | g.101425520A= | CA1868279099 | ALDOB | c.732T= (p.Tyr244=) | |
| 9 | g.101425520A>C | CA374264738 | ALDOB | c.732T>G (p.Tyr244Ter) | |
| 9 | g.101425520A>G | CA466462017 | ALDOB | c.732T>C (p.Tyr244=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101425520A>T | CA374264739 | ALDOB | c.732T>A (p.Tyr244Ter) | |
| 9 | g.101425521T>A | CA374264740 | ALDOB | c.731A>T (p.Tyr244Phe) | |
| 9 | g.101425521T>C | CA374264741 | ALDOB | c.731A>G (p.Tyr244Cys) | |
| 9 | g.101425521T>G | CA374264742 | ALDOB | c.731A>C (p.Tyr244Ser) | |
| 9 | g.101425522A>C | CA374264743 | ALDOB | c.730T>G (p.Tyr244Asp) | |
| 9 | g.101425522A>G | CA374264744 | ALDOB | c.730T>C (p.Tyr244His) | gnomAD v4 |
| 9 | g.101425522A>T | CA374264745 | ALDOB | c.730T>A (p.Tyr244Asn) | |
| 9 | g.101425523C>A | CA374264747 | ALDOB | c.729G>T (p.Lys243Asn) | gnomAD v4 |
| 9 | g.101425523C>G | CA374264746 | ALDOB | c.729G>C (p.Lys243Asn) | |
| 9 | g.101425523C>T | CA466462018 | ALDOB | c.729G>A (p.Lys243=) | |
| 9 | g.101425524T>A | CA374264748 | ALDOB | c.728A>T (p.Lys243Met) | |
| 9 | g.101425524T>C | CA374264749 | ALDOB | c.728A>G (p.Lys243Arg) | |
| 9 | g.101425524T>G | CA374264750 | ALDOB | c.728A>C (p.Lys243Thr) | |
| 9 | g.101425525T>A | CA374264751 | ALDOB | c.727A>T (p.Lys243Ter) | |
| 9 | g.101425525T>C | CA374264752 | ALDOB | c.727A>G (p.Lys243Glu) | |
| 9 | g.101425525T>G | CA374264753 | ALDOB | c.727A>C (p.Lys243Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101425525T= | CA1868279101 | ALDOB | c.727A= (p.Lys243=) | |
| 9 | g.101425526C>A | CA374264754 | ALDOB | c.726G>T (p.Lys242Asn) | |
| 9 | g.101425526C>G | CA374264755 | ALDOB | c.726G>C (p.Lys242Asn) | gnomAD v4 |
| 9 | g.101425526C>T | CA466462019 | ALDOB | c.726G>A (p.Lys242=) | |
| 9 | g.101425527T>A | CA374264756 | ALDOB | c.725A>T (p.Lys242Met) | |
| 9 | g.101425527T>C | CA374264758 | ALDOB | c.725A>G (p.Lys242Arg) | |
| 9 | g.101425527T>G | CA374264757 | ALDOB | c.725A>C (p.Lys242Thr) | |
| 9 | g.101425528T>A | CA374264759 | ALDOB | c.724A>T (p.Lys242Ter) | ClinVar |
| 9 | g.101425528T>C | CA374264760 | ALDOB | c.724A>G (p.Lys242Glu) | |
| 9 | g.101425528T>G | CA374264761 | ALDOB | c.724A>C (p.Lys242Gln) | |
| 9 | g.101425529G>A | CA466462020 | ALDOB | c.723C>T (p.Thr241=) | dbSNP gnomAD v4 |
| 9 | g.101425529G>C | CA5161491 | ALDOB | c.723C>G (p.Thr241=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101425529G= | CA1868279103 | ALDOB | c.723C= (p.Thr241=) | |
| 9 | g.101425529G>T | CA466462021 | ALDOB | c.723C>A (p.Thr241=) | |
| 9 | g.101425530G>A | CA5161493 | ALDOB | c.722C>T (p.Thr241Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.101425530G>C | CA374264762 | ALDOB | c.722C>G (p.Thr241Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101425530G= | CA1868279106 | ALDOB | c.722C= (p.Thr241=) | |
| 9 | g.101425530G>T | CA5161492 | ALDOB | c.722C>A (p.Thr241Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101425531T>A | CA374264763 | ALDOB | c.721A>T (p.Thr241Ser) | |
| 9 | g.101425531T>C | CA374264764 | ALDOB | c.721A>G (p.Thr241Ala) | |
| 9 | g.101425531T>G | CA374264765 | ALDOB | c.721A>C (p.Thr241Pro) | dbSNP |
| 9 | g.101425531T= | CA1868279108 | ALDOB | c.721A= (p.Thr241=) | |
| 9 | g.101425532G>A | CA466462022 | ALDOB | c.720C>T (p.Cys240=) | gnomAD v4 |
| 9 | g.101425532G>C | CA374264766 | ALDOB | c.720C>G (p.Cys240Trp) | |
| 9 | g.101425532G= | CA1868279111 | ALDOB | c.720C= (p.Cys240=) | |
| 9 | g.101425532G>T | CA114308 | ALDOB | c.720C>A (p.Cys240Ter) | ClinVar dbSNP |
| 9 | g.101425533C>A | CA374264767 | ALDOB | c.719G>T (p.Cys240Phe) | |
| 9 | g.101425533C>G | CA374264768 | ALDOB | c.719G>C (p.Cys240Ser) | |
| 9 | g.101425533C>T | CA374264769 | ALDOB | c.719G>A (p.Cys240Tyr) | |
| 9 | g.101425534A= | CA1868279112 | ALDOB | c.718T= (p.Cys240=) | |
| 9 | g.101425534A>C | CA374264770 | ALDOB | c.718T>G (p.Cys240Gly) | |
| 9 | g.101425534A>G | CA374264771 | ALDOB | c.718T>C (p.Cys240Arg) | dbSNP gnomAD v4 |
| 9 | g.101425534A>T | CA374264772 | ALDOB | c.718T>A (p.Cys240Ser) | |
| 9 | g.101425535G>A | CA5161494 | ALDOB | c.717C>T (p.Ala239=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101425535G>C | CA466462023 | ALDOB | c.717C>G (p.Ala239=) | |
| 9 | g.101425535G= | CA1868279113 | ALDOB | c.717C= (p.Ala239=) | |
| 9 | g.101425535G>T | CA466462024 | ALDOB | c.717C>A (p.Ala239=) | |
| 9 | g.101425536G>A | CA374264773 | ALDOB | c.716C>T (p.Ala239Val) | |
| 9 | g.101425536G>C | CA374264774 | ALDOB | c.716C>G (p.Ala239Gly) | |
| 9 | g.101425536G= | CA1868279114 | ALDOB | c.716C= (p.Ala239=) | |
| 9 | g.101425536G>T | CA196956798 | ALDOB | c.716C>A (p.Ala239Asp) | dbSNP |
| 9 | g.101425537C>A | CA5161495 | ALDOB | c.715G>T (p.Ala239Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.101425537C= | CA1868279115 | ALDOB | c.715G= (p.Ala239=) | |
| 9 | g.101425537C>G | CA374264775 | ALDOB | c.715G>C (p.Ala239Pro) | gnomAD v4 |
| 9 | g.101425537C>T | CA196956802 | ALDOB | c.715G>A (p.Ala239Thr) | dbSNP |
| 9 | g.101425538A= | CA1868279116 | ALDOB | c.714T= (p.His238=) | |
| 9 | g.101425538A>C | CA374264776 | ALDOB | c.714T>G (p.His238Gln) | |
| 9 | g.101425538A>G | CA196956804 | ALDOB | c.714T>C (p.His238=) | dbSNP gnomAD v4 |
| 9 | g.101425538A>T | CA374264777 | ALDOB | c.714T>A (p.His238Gln) | gnomAD v4 |
| 9 | g.101425539T>A | CA374264778 | ALDOB | c.713A>T (p.His238Leu) | |
| 9 | g.101425539T>C | CA374264779 | ALDOB | c.713A>G (p.His238Arg) | |
| 9 | g.101425539T>G | CA196956806 | ALDOB | c.713A>C (p.His238Pro) | dbSNP gnomAD v4 |
| 9 | g.101425539T= | CA1868279117 | ALDOB | c.713A= (p.His238=) | |
| 9 | g.101425539dup | CA913142081 | ALDOB | c.713dup (p.His238GlnfsTer?) | |
| 9 | g.101425540G>A | CA374264780 | ALDOB | c.712C>T (p.His238Tyr) | |
| 9 | g.101425540G>C | CA374264781 | ALDOB | c.712C>G (p.His238Asp) | |
| 9 | g.101425540G>T | CA374264782 | ALDOB | c.712C>A (p.His238Asn) | |
| 9 | g.101425540dup | CA658821562 | ALDOB | c.712dup (p.His238ProfsTer?) | ClinVar dbSNP |
| 9 | g.101425541T>A | CA466462025 | ALDOB | c.711A>T (p.Gly237=) | |
| 9 | g.101425541T>C | CA466462026 | ALDOB | c.711A>G (p.Gly237=) | dbSNP |
| 9 | g.101425541T>G | CA466462027 | ALDOB | c.711A>C (p.Gly237=) | |
| 9 | g.101425541T= | CA1868279118 | ALDOB | c.711A= (p.Gly237=) | |
| 9 | g.101425542C>A | CA374264785 | ALDOB | c.710G>T (p.Gly237Val) | |
| 9 | g.101425542C= | CA1868279119 | ALDOB | c.710G= (p.Gly237=) | |
| 9 | g.101425542C>G | CA374264784 | ALDOB | c.710G>C (p.Gly237Ala) | gnomAD v4 |
| 9 | g.101425542C>T | CA374264783 | ALDOB | c.710G>A (p.Gly237Glu) | dbSNP gnomAD v4 |
| 9 | g.101425543C>A | CA374264786 | ALDOB | c.709G>T (p.Gly237Ter) | |
| 9 | g.101425543C>G | CA374264787 | ALDOB | c.709G>C (p.Gly237Arg) | |
| 9 | g.101425543C>T | CA374264788 | ALDOB | c.709G>A (p.Gly237Arg) | |
| 9 | g.101425544A= | CA1868279120 | ALDOB | c.708T= (p.Ala236=) | |
| 9 | g.101425544A>C | CA466462028 | ALDOB | c.708T>G (p.Ala236=) | |
| 9 | g.101425544A>G | CA5161496 | ALDOB | c.708T>C (p.Ala236=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101425544A>T | CA466462029 | ALDOB | c.708T>A (p.Ala236=) | |
| 9 | g.101425545G>A | CA374264789 | ALDOB | c.707C>T (p.Ala236Val) | |
| 9 | g.101425545G>C | CA374264790 | ALDOB | c.707C>G (p.Ala236Gly) | |
| 9 | g.101425545G>T | CA374264791 | ALDOB | c.707C>A (p.Ala236Asp) | dbSNP |
| 9 | g.101425546C>A | CA374264792 | ALDOB | c.706G>T (p.Ala236Ser) | dbSNP gnomAD v4 |
| 9 | g.101425546C= | CA1868279121 | ALDOB | c.706G= (p.Ala236=) | |
| 9 | g.101425546C>G | CA374264793 | ALDOB | c.706G>C (p.Ala236Pro) | |
| 9 | g.101425546C>T | CA5161497 | ALDOB | c.706G>A (p.Ala236Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101425547A= | CA1868279122 | ALDOB | c.705T= (p.Thr235=) | |
| 9 | g.101425547A>C | CA466462032 | ALDOB | c.705T>G (p.Thr235=) | ClinVar gnomAD v4 |
| 9 | g.101425547A>G | CA466462030 | ALDOB | c.705T>C (p.Thr235=) | |
| 9 | g.101425547A>T | CA466462031 | ALDOB | c.705T>A (p.Thr235=) | dbSNP |
| 9 | g.101425547_101425548insCATTG | CA2500023601 | ALDOB | c.704_705insCAATG (p.Ala236AsnfsTer16) | |
| 9 | g.101425548G>A | CA374264794 | ALDOB | c.704C>T (p.Thr235Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101425548G>C | CA374264795 | ALDOB | c.704C>G (p.Thr235Ser) | |
| 9 | g.101425548G= | CA1868279123 | ALDOB | c.704C= (p.Thr235=) | |
| 9 | g.101425548G>T | CA374264796 | ALDOB | c.704C>A (p.Thr235Asn) | |
| 9 | g.101425549T>A | CA374264799 | ALDOB | c.703A>T (p.Thr235Ser) | |
| 9 | g.101425549T>C | CA374264798 | ALDOB | c.703A>G (p.Thr235Ala) | |
| 9 | g.101425549T>G | CA374264797 | ALDOB | c.703A>C (p.Thr235Pro) | |
| 9 | g.101425550C>A | CA466462033 | ALDOB | c.702G>T (p.Val234=) | |
| 9 | g.101425550C>G | CA466462034 | ALDOB | c.702G>C (p.Val234=) | |
| 9 | g.101425550C>T | CA466462035 | ALDOB | c.702G>A (p.Val234=) | |
| 9 | g.101425550_101425551delinsCA | CA1868279124 | ALDOB | c.701_702delinsTG (p.Val234=) | |
| 9 | g.101425550_101425551insT | CA2559890866 | ALDOB | c.701_702insA (p.Thr235AspfsTer?) | |
| 9 | g.101425551del | CA5161498 | ALDOB | c.701del (p.Val234GlyfsTer16) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101425551A>C | CA374264801 | ALDOB | c.701T>G (p.Val234Gly) | |
| 9 | g.101425551A>G | CA374264800 | ALDOB | c.701T>C (p.Val234Ala) | |
| 9 | g.101425551A>T | CA374264802 | ALDOB | c.701T>A (p.Val234Glu) | |
| 9 | g.101425552C>A | CA374264803 | ALDOB | c.700G>T (p.Val234Leu) | |
| 9 | g.101425552C>G | CA374264805 | ALDOB | c.700G>C (p.Val234Leu) | |
| 9 | g.101425552C>T | CA374264804 | ALDOB | c.700G>A (p.Val234Met) | |
| 9 | g.101425552_101425553del | CA2525042984 | ALDOB | c.699_700del (p.Met233IlefsTer?) | |
| 9 | g.101425553dup | CA2691007161 | ALDOB | c.700dup (p.Val234GlyfsTer?) | gnomAD v4 |
| 9 | g.101425553C>A | CA374264806 | ALDOB | c.699G>T (p.Met233Ile) | |
| 9 | g.101425553C>G | CA374264807 | ALDOB | c.699G>C (p.Met233Ile) | |
| 9 | g.101425553C>T | CA374264808 | ALDOB | c.699G>A (p.Met233Ile) | |
| 9 | g.101425554A= | CA1868279125 | ALDOB | c.698T= (p.Met233=) | |
| 9 | g.101425554A>C | CA374264809 | ALDOB | c.698T>G (p.Met233Arg) | |
| 9 | g.101425554A>G | CA374264810 | ALDOB | c.698T>C (p.Met233Thr) | |
| 9 | g.101425554A>T | CA5161499 | ALDOB | c.698T>A (p.Met233Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101425555T>A | CA374264813 | ALDOB | c.697A>T (p.Met233Leu) | |
| 9 | g.101425555T>C | CA374264811 | ALDOB | c.697A>G (p.Met233Val) | |
| 9 | g.101425555T>G | CA374264812 | ALDOB | c.697A>C (p.Met233Leu) | |
| 9 | g.101425556G>A | CA466462037 | ALDOB | c.696C>T (p.Asn232=) | gnomAD v4 COSMIC |
| 9 | g.101425556G>C | CA374264814 | ALDOB | c.696C>G (p.Asn232Lys) | |
| 9 | g.101425556G>T | CA374264815 | ALDOB | c.696C>A (p.Asn232Lys) | |
| 9 | g.101425556_101425557insAGGCCTGGAGA | CA2523850206 | ALDOB | c.695_696insTCTCCAGGCCT (p.Met233LeufsTer6) | |
| 9 | g.101425557T>A | CA374264816 | ALDOB | c.695A>T (p.Asn232Ile) | |
| 9 | g.101425557T>C | CA374264817 | ALDOB | c.695A>G (p.Asn232Ser) | dbSNP gnomAD v4 |
| 9 | g.101425557T>G | CA374264818 | ALDOB | c.695A>C (p.Asn232Thr) | gnomAD v4 |
| 9 | g.101425557T= | CA1868279126 | ALDOB | c.695A= (p.Asn232=) | |
| 9 | g.101425558T>A | CA374264820 | ALDOB | c.694A>T (p.Asn232Tyr) | |
| 9 | g.101425558T>C | CA196956813 | ALDOB | c.694A>G (p.Asn232Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101425558T>G | CA374264819 | ALDOB | c.694A>C (p.Asn232His) | COSMIC |
| 9 | g.101425558T= | CA1868279127 | ALDOB | c.694A= (p.Asn232=) | |
| 9 | g.101425559G>A | CA466462047 | ALDOB | c.693C>T (p.Pro231=) | |
| 9 | g.101425559G>C | CA466462050 | ALDOB | c.693C>G (p.Pro231=) | |
| 9 | g.101425559G= | CA1868279128 | ALDOB | c.693C= (p.Pro231=) | |
| 9 | g.101425559G>T | CA466462048 | ALDOB | c.693C>A (p.Pro231=) | dbSNP |
| 9 | g.101425561del | CA2691007162 | ALDOB | c.693del (p.Asn232ThrfsTer3) | gnomAD v4 |