Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.101425219_101426793del | CA2499219516 | ALDOB | c.541-153_800-175del | ClinVar |
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 |
9 | g.101425560G>A | CA374264821 | ALDOB | c.692C>T (p.Pro231Leu) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.101425560G>C | CA374264822 | ALDOB | c.692C>G (p.Pro231Arg) | |
9 | g.101425560G= | CA1868279129 | ALDOB | c.692C= (p.Pro231=) | |
9 | g.101425560G>T | CA374264823 | ALDOB | c.692C>A (p.Pro231His) | |
9 | g.101425560_101425561insTTCAGAA | CA2520528732 | ALDOB | c.691_692insTTCTGAA (p.Pro231LeufsTer?) | |
9 | g.101425561G>A | CA374264824 | ALDOB | c.691C>T (p.Pro231Ser) n.218C>T | |
9 | g.101425561G>C | CA374264825 | ALDOB | c.691C>G (p.Pro231Ala) n.218C>G | |
9 | g.101425561G>T | CA374264826 | ALDOB | c.691C>A (p.Pro231Thr) n.218C>A | COSMIC |
9 | g.101425562C>A | CA374264827 | ALDOB | c.690G>T (p.Lys230Asn) n.217G>T | |
9 | g.101425562C= | CA1868279130 | ALDOB | c.690G= (p.Lys230=) n.217G= | |
9 | g.101425562C>G | CA374264828 | ALDOB | c.690G>C (p.Lys230Asn) n.217G>C | |
9 | g.101425562C>T | CA5161500 | ALDOB | c.690G>A (p.Lys230=) n.217G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101425563T>A | CA374264829 | ALDOB | c.689A>T (p.Lys230Met) n.216A>T | |
9 | g.101425563T>C | CA374264830 | ALDOB | c.689A>G (p.Lys230Arg) n.216A>G | |
9 | g.101425563T>G | CA374264831 | ALDOB | c.689A>C (p.Lys230Thr) n.216A>C | COSMIC |
9 | g.101425563T= | CA1868279131 | ALDOB | c.689A= (p.Lys230=) n.216A= | |
9 | g.101425565dup | CA2838964176 | ALDOB | c.689dup (p.Pro231AlafsTer?) n.216dup | |
9 | g.101425565del | CA2499219518 | ALDOB | c.689del (p.Lys230SerfsTer5) n.216del | ClinVar dbSNP |
9 | g.101425564T>A | CA374264832 | ALDOB | c.688A>T (p.Lys230Ter) n.215A>T | |
9 | g.101425564T>C | CA5161501 | ALDOB | c.688A>G (p.Lys230Glu) n.215A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101425564T>G | CA374264833 | ALDOB | c.688A>C (p.Lys230Gln) n.215A>C | |
9 | g.101425564T= | CA1868279132 | ALDOB | c.688A= (p.Lys230=) n.215A= | |
9 | g.101425564_101425569dup | CA590045512 | ALDOB | c.683_688dup (p.Leu229_Lys230insMetLeu) n.210_215dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.101425565T>A | CA466462067 | ALDOB | c.687A>T (p.Leu229=) n.214A>T | |
9 | g.101425565T>C | CA466462069 | ALDOB | c.687A>G (p.Leu229=) n.214A>G | ClinVar dbSNP gnomAD v4 |
9 | g.101425565T>G | CA466462071 | ALDOB | c.687A>C (p.Leu229=) n.214A>C | ClinVar dbSNP |
9 | g.101425565T= | CA1868279133 | ALDOB | c.687A= (p.Leu229=) n.214A= | |
9 | g.101425565_101425566insTGCCA | CA2500482416 | ALDOB | c.686_687insTGGCA (p.Lys230GlyfsTer7) n.213_214insTGGCA | |
9 | g.101425566A= | CA1868279134 | ALDOB | c.686T= (p.Leu229=) n.213T= | |
9 | g.101425566A>C | CA374264834 | ALDOB | c.686T>G (p.Leu229Arg) n.213T>G | |
9 | g.101425566A>G | CA374264835 | ALDOB | c.686T>C (p.Leu229Pro) n.213T>C | ClinVar dbSNP |
9 | g.101425566A>T | CA374264836 | ALDOB | c.686T>A (p.Leu229Gln) n.213T>A | |
9 | g.101425567G>A | CA5161502 | ALDOB | c.685C>T (p.Leu229=) n.212C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101425567G>C | CA374264837 | ALDOB | c.685C>G (p.Leu229Val) n.212C>G | |
9 | g.101425567G= | CA1868279135 | ALDOB | c.685C= (p.Leu229=) n.212C= | |
9 | g.101425567G>T | CA374264838 | ALDOB | c.685C>A (p.Leu229Ile) n.212C>A | |
9 | g.101425568C>A | CA466462084 | ALDOB | c.684G>T (p.Leu228=) n.211G>T | |
9 | g.101425568C>G | CA466462080 | ALDOB | c.684G>C (p.Leu228=) n.211G>C | gnomAD v4 |
9 | g.101425568C>T | CA466462082 | ALDOB | c.684G>A (p.Leu228=) n.211G>A | |
9 | g.101425569A>C | CA374264839 | ALDOB | c.683T>G (p.Leu228Arg) n.210T>G | |
9 | g.101425569A>G | CA374264840 | ALDOB | c.683T>C (p.Leu228Pro) n.210T>C | COSMIC |
9 | g.101425569A>T | CA374264841 | ALDOB | c.683T>A (p.Leu228Gln) n.210T>A | |
9 | g.101425570G>A | CA466462091 | ALDOB | c.682C>T (p.Leu228=) n.209C>T | dbSNP |
9 | g.101425570G>C | CA374264842 | ALDOB | c.682C>G (p.Leu228Val) n.209C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101425570G= | CA1868279136 | ALDOB | c.682C= (p.Leu228=) n.209C= | |
9 | g.101425570G>T | CA374264843 | ALDOB | c.682C>A (p.Leu228Met) n.209C>A | gnomAD v4 |
9 | g.101425570_101425572del | CA2565156084 | ALDOB | c.680_682del (p.Thr227_Leu228delinsMet) n.207_209del | |
9 | g.101425571G>A | CA5161503 | ALDOB | c.681C>T (p.Thr227=) n.208C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101425571G>C | CA466462096 | ALDOB | c.681C>G (p.Thr227=) n.208C>G | |
9 | g.101425571G= | CA1868279137 | ALDOB | c.681C= (p.Thr227=) n.208C= | |
9 | g.101425571G>T | CA466462099 | ALDOB | c.681C>A (p.Thr227=) n.208C>A | dbSNP |
9 | g.101425572G>A | CA196956818 | ALDOB | c.680C>T (p.Thr227Ile) n.207C>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.101425572G>C | CA374264844 | ALDOB | c.680C>G (p.Thr227Ser) n.207C>G | |
9 | g.101425572G= | CA1868279138 | ALDOB | c.680C= (p.Thr227=) n.207C= | |
9 | g.101425572G>T | CA374264845 | ALDOB | c.680C>A (p.Thr227Asn) n.207C>A | ClinVar dbSNP |
9 | g.101425573T>A | CA5161504 | ALDOB | c.679A>T (p.Thr227Ser) n.206A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101425573T>C | CA374264846 | ALDOB | c.679A>G (p.Thr227Ala) n.206A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101425573T>G | CA374264847 | ALDOB | c.679A>C (p.Thr227Pro) n.206A>C | |
9 | g.101425573T= | CA1868279139 | ALDOB | c.679A= (p.Thr227=) n.206A= | |
9 | g.101425574G>A | CA466462114 | ALDOB | c.678C>T (p.Gly226=) n.205C>T | |
9 | g.101425574G>C | CA466462110 | ALDOB | c.678C>G (p.Gly226=) n.205C>G | |
9 | g.101425574G= | CA1868279140 | ALDOB | c.678C= (p.Gly226=) n.205C= | |
9 | g.101425574G>T | CA466462112 | ALDOB | c.678C>A (p.Gly226=) n.205C>A | dbSNP gnomAD v4 COSMIC |
9 | g.101425575C>A | CA374264848 | ALDOB | c.677G>T (p.Gly226Val) n.204G>T | |
9 | g.101425575C>G | CA374264849 | ALDOB | c.677G>C (p.Gly226Ala) n.204G>C | |
9 | g.101425575C>T | CA374264850 | ALDOB | c.677G>A (p.Gly226Asp) n.204G>A | ClinVar dbSNP |
9 | g.101425576C>A | CA374264851 | ALDOB | c.676G>T (p.Gly226Cys) n.203G>T | |
9 | g.101425576C= | CA1868279141 | ALDOB | c.676G= (p.Gly226=) n.203G= | |
9 | g.101425576C>G | CA374264852 | ALDOB | c.676G>C (p.Gly226Arg) n.203G>C | |
9 | g.101425576C>T | CA374264853 | ALDOB | c.676G>A (p.Gly226Ser) n.203G>A | dbSNP gnomAD v2 gnomAD v4 |
9 | g.101425577C>A | CA374264854 | ALDOB | c.675G>T (p.Glu225Asp) n.202G>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.101425577C= | CA1868279142 | ALDOB | c.675G= (p.Glu225=) n.202G= | |
9 | g.101425577C>G | CA374264855 | ALDOB | c.675G>C (p.Glu225Asp) n.202G>C | |
9 | g.101425577C>T | CA466462124 | ALDOB | c.675G>A (p.Glu225=) n.202G>A | ClinVar dbSNP |
9 | g.101425578T>A | CA374264857 | ALDOB | c.674A>T (p.Glu225Val) n.201A>T | |
9 | g.101425578T>C | CA196956822 | ALDOB | c.674A>G (p.Glu225Gly) n.201A>G | dbSNP gnomAD v4 |
9 | g.101425578T>G | CA374264856 | ALDOB | c.674A>C (p.Glu225Ala) n.201A>C | |
9 | g.101425578T= | CA1868279143 | ALDOB | c.674A= (p.Glu225=) n.201A= | |
9 | g.101425578_101425579delinsTC | CA1868279144 | ALDOB | c.673_674delinsGA (p.Glu225=) n.200_201delinsGA | |
9 | g.101425579C>A | CA374264859 | ALDOB | c.673G>T (p.Glu225Ter) n.200G>T | |
9 | g.101425579C= | CA1868279145 | ALDOB | c.673G= (p.Glu225=) n.200G= | |
9 | g.101425579C>G | CA374264858 | ALDOB | c.673G>C (p.Glu225Gln) n.200G>C | |
9 | g.101425579C>T | CA5161506 | ALDOB | c.673G>A (p.Glu225Lys) n.200G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101425580del | CA5161505 | ALDOB | c.673del (p.Glu225ArgfsTer5) n.200del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101425580C>A | CA466462142 | ALDOB | c.672G>T (p.Leu224=) n.199G>T | |
9 | g.101425580C= | CA1868279146 | ALDOB | c.672G= (p.Leu224=) n.199G= | |
9 | g.101425580C>G | CA466462145 | ALDOB | c.672G>C (p.Leu224=) n.199G>C | |
9 | g.101425580C>T | CA196956826 | ALDOB | c.672G>A (p.Leu224=) n.199G>A | dbSNP gnomAD v4 |
9 | g.101425581A= | CA1868279147 | ALDOB | c.671T= (p.Leu224=) n.198T= | |
9 | g.101425581A>C | CA374264860 | ALDOB | c.671T>G (p.Leu224Arg) n.198T>G | |
9 | g.101425581A>G | CA5161507 | ALDOB | c.671T>C (p.Leu224Pro) n.198T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101425581A>T | CA374264861 | ALDOB | c.671T>A (p.Leu224Gln) n.198T>A | |
9 | g.101425582G>A | CA466462152 | ALDOB | c.670C>T (p.Leu224=) n.197C>T | gnomAD v4 |
9 | g.101425582G>C | CA374264862 | ALDOB | c.670C>G (p.Leu224Val) n.197C>G | |
9 | g.101425582G>T | CA374264863 | ALDOB | c.670C>A (p.Leu224Met) n.197C>A | |
9 | g.101425583G>A | CA466462158 | ALDOB | c.669C>T (p.Tyr223=) n.196C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.101425583G>C | CA374264864 | ALDOB | c.669C>G (p.Tyr223Ter) n.196C>G | |
9 | g.101425583G= | CA1868279148 | ALDOB | c.669C= (p.Tyr223=) n.196C= | |
9 | g.101425583G>T | CA374264865 | ALDOB | c.669C>A (p.Tyr223Ter) n.196C>A | |
9 | g.101425584T>A | CA374264866 | ALDOB | c.668A>T (p.Tyr223Phe) n.195A>T | |
9 | g.101425584T>C | CA374264867 | ALDOB | c.668A>G (p.Tyr223Cys) n.195A>G | |
9 | g.101425584T>G | CA374264868 | ALDOB | c.668A>C (p.Tyr223Ser) n.195A>C | |
9 | g.101425585A>C | CA374264871 | ALDOB | c.667T>G (p.Tyr223Asp) n.194T>G | |
9 | g.101425585A>G | CA374264869 | ALDOB | c.667T>C (p.Tyr223His) n.194T>C | |
9 | g.101425585A>T | CA374264870 | ALDOB | c.667T>A (p.Tyr223Asn) n.194T>A | |
9 | g.101425587del | CA2720258163 | ALDOB | c.667del (p.Tyr223ThrfsTer7) n.194del | dbSNP |
9 | g.101425586A= | CA1868279149 | ALDOB | c.666T= (p.Val222=) n.193T= | |
9 | g.101425586A>C | CA466462174 | ALDOB | c.666T>G (p.Val222=) n.193T>G | |
9 | g.101425586A>G | CA466462177 | ALDOB | c.666T>C (p.Val222=) n.193T>C | dbSNP |
9 | g.101425586A>T | CA466462179 | ALDOB | c.666T>A (p.Val222=) n.193T>A | |
9 | g.101425587A>C | CA374264872 | ALDOB | c.665T>G (p.Val222Gly) n.192T>G | |
9 | g.101425587A>G | CA374264873 | ALDOB | c.665T>C (p.Val222Ala) n.192T>C | |
9 | g.101425587A>T | CA374264874 | ALDOB | c.665T>A (p.Val222Asp) n.192T>A | |
9 | g.101425588C>A | CA374264875 | ALDOB | c.664G>T (p.Val222Phe) n.191G>T | ClinVar dbSNP gnomAD v4 |
9 | g.101425588C= | CA1868279150 | ALDOB | c.664G= (p.Val222=) n.191G= | |
9 | g.101425588C>G | CA374264876 | ALDOB | c.664G>C (p.Val222Leu) n.191G>C | |
9 | g.101425588C>T | CA374264877 | ALDOB | c.664G>A (p.Val222Ile) n.191G>A | |
9 | g.101425589A= | CA1868279151 | ALDOB | c.663T= (p.His221=) n.190T= | |
9 | g.101425589A>C | CA374264878 | ALDOB | c.663T>G (p.His221Gln) n.190T>G | |
9 | g.101425589A>G | CA466462195 | ALDOB | c.663T>C (p.His221=) n.190T>C | dbSNP gnomAD v2 gnomAD v4 |
9 | g.101425589A>T | CA374264879 | ALDOB | c.663T>A (p.His221Gln) n.190T>A | |
9 | g.101425590T>A | CA374264880 | ALDOB | c.662A>T (p.His221Leu) n.189A>T | |
9 | g.101425590T>C | CA374264881 | ALDOB | c.662A>G (p.His221Arg) n.189A>G | dbSNP gnomAD v2 gnomAD v4 |
9 | g.101425590T>G | CA374264882 | ALDOB | c.662A>C (p.His221Pro) n.189A>C | |
9 | g.101425590T= | CA1868279152 | ALDOB | c.662A= (p.His221=) n.189A= | |
9 | g.101425591G>A | CA374264884 | ALDOB | c.661C>T (p.His221Tyr) n.188C>T | |
9 | g.101425591G>C | CA374264885 | ALDOB | c.661C>G (p.His221Asp) n.188C>G | dbSNP gnomAD v2 gnomAD v4 |
9 | g.101425591G= | CA1868279153 | ALDOB | c.661C= (p.His221=) n.188C= | |
9 | g.101425591G>T | CA374264883 | ALDOB | c.661C>A (p.His221Asn) n.188C>A | |
9 | g.101425592A= | CA1868279154 | ALDOB | c.660T= (p.His220=) n.187T= | |
9 | g.101425592A>C | CA374264886 | ALDOB | c.660T>G (p.His220Gln) n.187T>G | |
9 | g.101425592A>G | CA466462212 | ALDOB | c.660T>C (p.His220=) n.187T>C | dbSNP gnomAD v2 |
9 | g.101425592A>T | CA374264887 | ALDOB | c.660T>A (p.His220Gln) n.187T>A | gnomAD v4 |
9 | g.101425593T>A | CA374264888 | ALDOB | c.659A>T (p.His220Leu) n.186A>T | |
9 | g.101425593T>C | CA374264889 | ALDOB | c.659A>G (p.His220Arg) n.186A>G | |
9 | g.101425593T>G | CA374264890 | ALDOB | c.659A>C (p.His220Pro) n.186A>C | |
9 | g.101425594G>A | CA374264891 | ALDOB | c.658C>T (p.His220Tyr) n.185C>T | |
9 | g.101425594G>C | CA374264892 | ALDOB | c.658C>G (p.His220Asp) n.185C>G | |
9 | g.101425594G>T | CA374264893 | ALDOB | c.658C>A (p.His220Asn) n.185C>A | |
9 | g.101425595G>A | CA196956830 | ALDOB | c.657C>T (p.Asp219=) n.184C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101425595G>C | CA374264894 | ALDOB | c.657C>G (p.Asp219Glu) n.184C>G | |
9 | g.101425595G= | CA1868279155 | ALDOB | c.657C= (p.Asp219=) n.184C= | |
9 | g.101425595G>T | CA374264895 | ALDOB | c.657C>A (p.Asp219Glu) n.184C>A | gnomAD v4 |
9 | g.101425596T>A | CA374264896 | ALDOB | c.656A>T (p.Asp219Val) n.183A>T | dbSNP |
9 | g.101425596T>C | CA374264897 | ALDOB | c.656A>G (p.Asp219Gly) n.183A>G | |
9 | g.101425596T>G | CA374264898 | ALDOB | c.656A>C (p.Asp219Ala) n.183A>C | |
9 | g.101425596T= | CA1868279156 | ALDOB | c.656A= (p.Asp219=) n.183A= | |
9 | g.101425597C>A | CA374264901 | ALDOB | c.655G>T (p.Asp219Tyr) n.182G>T | dbSNP |
9 | g.101425597C= | CA1868279157 | ALDOB | c.655G= (p.Asp219=) n.182G= | |
9 | g.101425597C>G | CA374264900 | ALDOB | c.655G>C (p.Asp219His) n.182G>C | gnomAD v4 |
9 | g.101425597C>T | CA374264899 | ALDOB | c.655G>A (p.Asp219Asn) n.182G>A | |
9 | g.101425598A= | CA1868279158 | ALDOB | c.654T= (p.Asn218=) n.181T= | |
9 | g.101425598A>C | CA374264902 | ALDOB | c.654T>G (p.Asn218Lys) n.181T>G | |
9 | g.101425598A>G | CA5161508 | ALDOB | c.654T>C (p.Asn218=) n.181T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
9 | g.101425598A>T | CA374264903 | ALDOB | c.654T>A (p.Asn218Lys) n.181T>A | |
9 | g.101425599T>A | CA374264904 | ALDOB | c.653A>T (p.Asn218Ile) n.180A>T | |
9 | g.101425599T>C | CA374264905 | ALDOB | c.653A>G (p.Asn218Ser) n.180A>G | |
9 | g.101425599T>G | CA374264906 | ALDOB | c.653A>C (p.Asn218Thr) n.180A>C | |
9 | g.101425600T>A | CA374264907 | ALDOB | c.652A>T (p.Asn218Tyr) n.179A>T | |
9 | g.101425600T>C | CA374264908 | ALDOB | c.652A>G (p.Asn218Asp) n.179A>G | |
9 | g.101425600T>G | CA374264909 | ALDOB | c.652A>C (p.Asn218His) n.179A>C | |
9 | g.101425600T= | CA1868279159 | ALDOB | c.652A= (p.Asn218=) n.179A= | |
9 | g.101425600_101425601insAACC | CA918520490 | ALDOB | c.651_652insGGTT (p.Asn218GlyfsTer2) n.178_179insGGTT | dbSNP |
9 | g.101425600_101425601insAACCCATTAAGTTGGGTTAATGAAGAAATTCAAGCAGTGTTTAGAGTTCTAATTGGGGATCTC | CA2785321937 | ALDOB | c.651_652insGAGATCCCCAATTAGAACTCTAAACACTGCTTGAATTTCTTCATTAACCCAACTTAATGGGTT n.178_179insGAGATCCCCAATTAGAACTCTAAACACTGCTTGAATTTCTTCATTAACCCAACTTAATGGGTT | |
9 | g.101425601C>A | CA466462249 | ALDOB | c.651G>T (p.Leu217=) n.178G>T | |
9 | g.101425601C= | CA1868279160 | ALDOB | c.651G= (p.Leu217=) n.178G= | |
9 | g.101425601C>G | CA466462253 | ALDOB | c.651G>C (p.Leu217=) n.178G>C | dbSNP |
9 | g.101425601C>T | CA466462251 | ALDOB | c.651G>A (p.Leu217=) n.178G>A | |
9 | g.101425601_101426915del | CA1139661094 | ALDOB | c.541-277_651del n.68-277_178del | ClinVar |
9 | g.101425601_101426915delinsAACCCAT | CA2695199394 | ALDOB | c.541-277_651delinsATGGGTT n.68-277_178delinsATGGGTT | ClinVar |
9 | g.101425602A>C | CA374264910 | ALDOB | c.650T>G (p.Leu217Arg) n.177T>G | |
9 | g.101425602A>G | CA374264911 | ALDOB | c.650T>C (p.Leu217Pro) n.177T>C | |
9 | g.101425602A>T | CA374264912 | ALDOB | c.650T>A (p.Leu217Gln) n.177T>A | |
9 | g.101425603G>A | CA466462259 | ALDOB | c.649C>T (p.Leu217=) n.176C>T | dbSNP |
9 | g.101425603G>C | CA374264913 | ALDOB | c.649C>G (p.Leu217Val) n.176C>G | |
9 | g.101425603G= | CA1868279161 | ALDOB | c.649C= (p.Leu217=) n.176C= | |
9 | g.101425603G>T | CA374264914 | ALDOB | c.649C>A (p.Leu217Met) n.176C>A | |
9 | g.101425604G>A | CA466462264 | ALDOB | c.648C>T (p.Ala216=) n.175C>T | dbSNP |
9 | g.101425604G>C | CA466462266 | ALDOB | c.648C>G (p.Ala216=) n.175C>G | dbSNP gnomAD v4 |
9 | g.101425604G= | CA1868279162 | ALDOB | c.648C= (p.Ala216=) n.175C= | |
9 | g.101425604G>T | CA466462268 | ALDOB | c.648C>A (p.Ala216=) n.175C>A | |
9 | g.101425605G>A | CA374264917 | ALDOB | c.647C>T (p.Ala216Val) n.174C>T | |
9 | g.101425605G>C | CA374264916 | ALDOB | c.647C>G (p.Ala216Gly) n.174C>G | |
9 | g.101425605G>T | CA374264915 | ALDOB | c.647C>A (p.Ala216Asp) n.174C>A |