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.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 |
| 9 | g.38396526T>A | CA373511703 | ALDH1B1 | c.778T>A (p.Phe260Ile) | |
| 9 | g.38396526T>C | CA373511706 | ALDH1B1 | c.778T>C (p.Phe260Leu) | |
| 9 | g.38396526T>G | CA373511707 | ALDH1B1 | c.778T>G (p.Phe260Val) | |
| 9 | g.38396527dup | CA5063979 | ALDH1B1 | c.779dup (p.Thr261HisfsTer29) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396527T>A | CA373511709 | ALDH1B1 | c.779T>A (p.Phe260Tyr) | gnomAD v4 |
| 9 | g.38396527T>C | CA373511713 | ALDH1B1 | c.779T>C (p.Phe260Ser) | |
| 9 | g.38396527T>G | CA373511711 | ALDH1B1 | c.779T>G (p.Phe260Cys) | |
| 9 | g.38396528C>A | CA373511715 | ALDH1B1 | c.780C>A (p.Phe260Leu) | |
| 9 | g.38396528C>G | CA373511717 | ALDH1B1 | c.780C>G (p.Phe260Leu) | |
| 9 | g.38396528C>T | CA465127385 | ALDH1B1 | c.780C>T (p.Phe260=) | gnomAD v4 |
| 9 | g.38396529A= | CA1847332586 | ALDH1B1 | c.781A= (p.Thr261=) | |
| 9 | g.38396529A>C | CA5063980 | ALDH1B1 | c.781A>C (p.Thr261Pro) | dbSNP ExAC gnomAD v2 |
| 9 | g.38396529A>G | CA373511720 | ALDH1B1 | c.781A>G (p.Thr261Ala) | gnomAD v4 |
| 9 | g.38396529A>T | CA373511722 | ALDH1B1 | c.781A>T (p.Thr261Ser) | |
| 9 | g.38396530C>A | CA373511724 | ALDH1B1 | c.782C>A (p.Thr261Asn) | |
| 9 | g.38396530C= | CA1847332589 | ALDH1B1 | c.782C= (p.Thr261=) | |
| 9 | g.38396530C>G | CA373511726 | ALDH1B1 | c.782C>G (p.Thr261Ser) | dbSNP gnomAD v4 |
| 9 | g.38396530C>T | CA373511728 | ALDH1B1 | c.782C>T (p.Thr261Ile) | gnomAD v4 |
| 9 | g.38396531C>A | CA465127388 | ALDH1B1 | c.783C>A (p.Thr261=) | |
| 9 | g.38396531C= | CA1847332601 | ALDH1B1 | c.783C= (p.Thr261=) | |
| 9 | g.38396531C>G | CA465127389 | ALDH1B1 | c.783C>G (p.Thr261=) | |
| 9 | g.38396531C>T | CA322312 | ALDH1B1 | c.783C>T (p.Thr261=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396532G>A | CA5063981 | ALDH1B1 | c.784G>A (p.Gly262Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396532G>C | CA373511732 | ALDH1B1 | c.784G>C (p.Gly262Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396532G= | CA1847332611 | ALDH1B1 | c.784G= (p.Gly262=) | |
| 9 | g.38396532G>T | CA373511733 | ALDH1B1 | c.784G>T (p.Gly262Cys) | |
| 9 | g.38396533G>A | CA373511736 | ALDH1B1 | c.785G>A (p.Gly262Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396533G>C | CA373511739 | ALDH1B1 | c.785G>C (p.Gly262Ala) | |
| 9 | g.38396533G= | CA1847332618 | ALDH1B1 | c.785G= (p.Gly262=) | |
| 9 | g.38396533G>T | CA373511738 | ALDH1B1 | c.785G>T (p.Gly262Val) | dbSNP |
| 9 | g.38396534T>A | CA465127390 | ALDH1B1 | c.786T>A (p.Gly262=) | |
| 9 | g.38396534T>C | CA465127391 | ALDH1B1 | c.786T>C (p.Gly262=) | |
| 9 | g.38396534T>G | CA465127392 | ALDH1B1 | c.786T>G (p.Gly262=) | |
| 9 | g.38396535T>A | CA373511742 | ALDH1B1 | c.787T>A (p.Ser263Thr) | |
| 9 | g.38396535T>C | CA373511744 | ALDH1B1 | c.787T>C (p.Ser263Pro) | |
| 9 | g.38396535T>G | CA373511745 | ALDH1B1 | c.787T>G (p.Ser263Ala) | |
| 9 | g.38396536C>A | CA373511748 | ALDH1B1 | c.788C>A (p.Ser263Tyr) | |
| 9 | g.38396536C>G | CA373511749 | ALDH1B1 | c.788C>G (p.Ser263Cys) | |
| 9 | g.38396536C>T | CA373511751 | ALDH1B1 | c.788C>T (p.Ser263Phe) | gnomAD v4 |
| 9 | g.38396537C>A | CA465127396 | ALDH1B1 | c.789C>A (p.Ser263=) | |
| 9 | g.38396537C= | CA1847332621 | ALDH1B1 | c.789C= (p.Ser263=) | |
| 9 | g.38396537C>G | CA465127397 | ALDH1B1 | c.789C>G (p.Ser263=) | |
| 9 | g.38396537C>T | CA5063982 | ALDH1B1 | c.789C>T (p.Ser263=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.38396538A= | CA1847332623 | ALDH1B1 | c.790A= (p.Thr264=) | |
| 9 | g.38396538A>C | CA373511752 | ALDH1B1 | c.790A>C (p.Thr264Pro) | dbSNP |
| 9 | g.38396538A>G | CA373511754 | ALDH1B1 | c.790A>G (p.Thr264Ala) | gnomAD v4 |
| 9 | g.38396538A>T | CA373511753 | ALDH1B1 | c.790A>T (p.Thr264Ser) | |
| 9 | g.38396539C>A | CA373511755 | ALDH1B1 | c.791C>A (p.Thr264Asn) | |
| 9 | g.38396539C>G | CA373511756 | ALDH1B1 | c.791C>G (p.Thr264Ser) | |
| 9 | g.38396539C>T | CA373511757 | ALDH1B1 | c.791C>T (p.Thr264Ile) | gnomAD v4 |
| 9 | g.38396540C>A | CA465127399 | ALDH1B1 | c.792C>A (p.Thr264=) | gnomAD v4 |
| 9 | g.38396540C= | CA1847332628 | ALDH1B1 | c.792C= (p.Thr264=) | |
| 9 | g.38396540C>G | CA465127400 | ALDH1B1 | c.792C>G (p.Thr264=) | |
| 9 | g.38396540C>T | CA5063983 | ALDH1B1 | c.792C>T (p.Thr264=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396541G>A | CA5063984 | ALDH1B1 | c.793G>A (p.Glu265Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.38396541G>C | CA373511759 | ALDH1B1 | c.793G>C (p.Glu265Gln) | gnomAD v4 |
| 9 | g.38396541G= | CA1847332635 | ALDH1B1 | c.793G= (p.Glu265=) | |
| 9 | g.38396541G>T | CA373511758 | ALDH1B1 | c.793G>T (p.Glu265Ter) | gnomAD v4 |
| 9 | g.38396542A= | CA1847332638 | ALDH1B1 | c.794A= (p.Glu265=) | |
| 9 | g.38396542A>C | CA373511760 | ALDH1B1 | c.794A>C (p.Glu265Ala) | dbSNP |
| 9 | g.38396542A>G | CA373511761 | ALDH1B1 | c.794A>G (p.Glu265Gly) | |
| 9 | g.38396542A>T | CA373511762 | ALDH1B1 | c.794A>T (p.Glu265Val) | gnomAD v4 |
| 9 | g.38396543G>A | CA465127401 | ALDH1B1 | c.795G>A (p.Glu265=) | dbSNP |
| 9 | g.38396543G>C | CA373511763 | ALDH1B1 | c.795G>C (p.Glu265Asp) | |
| 9 | g.38396543G= | CA1847332645 | ALDH1B1 | c.795G= (p.Glu265=) | |
| 9 | g.38396543G>T | CA373511764 | ALDH1B1 | c.795G>T (p.Glu265Asp) | |
| 9 | g.38396543_38396553delinsGGTGGGCCACC | CA1847332643 | ALDH1B1 | c.795_805delinsGGTGGGCCACC (p.Glu265=) | |
| 9 | g.38396544G>A | CA373511765 | ALDH1B1 | c.796G>A (p.Val266Met) | dbSNP |
| 9 | g.38396544G>C | CA373511766 | ALDH1B1 | c.796G>C (p.Val266Leu) | |
| 9 | g.38396544G= | CA1847332653 | ALDH1B1 | c.796G= (p.Val266=) | |
| 9 | g.38396544G>T | CA373511767 | ALDH1B1 | c.796G>T (p.Val266Leu) | |
| 9 | g.38396544_38396553del | CA863818104 | ALDH1B1 | c.796_805del (p.Val266Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.38396545T>A | CA373511768 | ALDH1B1 | c.797T>A (p.Val266Glu) | |
| 9 | g.38396545T>C | CA373511769 | ALDH1B1 | c.797T>C (p.Val266Ala) | COSMIC |
| 9 | g.38396545T>G | CA373511770 | ALDH1B1 | c.797T>G (p.Val266Gly) | |
| 9 | g.38396545T= | CA1847332661 | ALDH1B1 | c.797T= (p.Val266=) | |
| 9 | g.38396545_38396546insC | CA1847332667 | ALDH1B1 | c.797_798insC (p.His268ProfsTer22) | dbSNP |
| 9 | g.38396546G>A | CA465127405 | ALDH1B1 | c.798G>A (p.Val266=) | |
| 9 | g.38396546G>C | CA465127407 | ALDH1B1 | c.798G>C (p.Val266=) | |
| 9 | g.38396546G>T | CA465127406 | ALDH1B1 | c.798G>T (p.Val266=) | |
| 9 | g.38396547G>A | CA373511771 | ALDH1B1 | c.799G>A (p.Gly267Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.38396547G>C | CA373511774 | ALDH1B1 | c.799G>C (p.Gly267Arg) | |
| 9 | g.38396547G= | CA1847332678 | ALDH1B1 | c.799G= (p.Gly267=) | |
| 9 | g.38396547G>T | CA373511772 | ALDH1B1 | c.799G>T (p.Gly267Cys) | |
| 9 | g.38396547_38396548insCC | CA1847332679 | ALDH1B1 | c.799_800insCC (p.Gly267AlafsTer4) | dbSNP |
| 9 | g.38396548G>A | CA373511777 | ALDH1B1 | c.800G>A (p.Gly267Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.38396548G>C | CA373511780 | ALDH1B1 | c.800G>C (p.Gly267Ala) | gnomAD v4 |
| 9 | g.38396548G= | CA1847332684 | ALDH1B1 | c.800G= (p.Gly267=) | |
| 9 | g.38396548G>T | CA373511779 | ALDH1B1 | c.800G>T (p.Gly267Val) | gnomAD v4 |
| 9 | g.38396549C>A | CA465127409 | ALDH1B1 | c.801C>A (p.Gly267=) | |
| 9 | g.38396549C= | CA1847332689 | ALDH1B1 | c.801C= (p.Gly267=) | |
| 9 | g.38396549C>G | CA465127412 | ALDH1B1 | c.801C>G (p.Gly267=) | |
| 9 | g.38396549C>T | CA465127411 | ALDH1B1 | c.801C>T (p.Gly267=) | dbSNP |
| 9 | g.38396550C>A | CA373511782 | ALDH1B1 | c.802C>A (p.His268Asn) | gnomAD v4 |
| 9 | g.38396550C>G | CA373511785 | ALDH1B1 | c.802C>G (p.His268Asp) | |
| 9 | g.38396550C>T | CA373511787 | ALDH1B1 | c.802C>T (p.His268Tyr) | |
| 9 | g.38396551A>C | CA373511790 | ALDH1B1 | c.803A>C (p.His268Pro) | |
| 9 | g.38396551A>G | CA373511792 | ALDH1B1 | c.803A>G (p.His268Arg) | |
| 9 | g.38396551A>T | CA373511794 | ALDH1B1 | c.803A>T (p.His268Leu) | |
| 9 | g.38396552C>A | CA373511797 | ALDH1B1 | c.804C>A (p.His268Gln) | dbSNP |
| 9 | g.38396552C= | CA1847332692 | ALDH1B1 | c.804C= (p.His268=) | |
| 9 | g.38396552C>G | CA373511799 | ALDH1B1 | c.804C>G (p.His268Gln) | |
| 9 | g.38396552C>T | CA5063985 | ALDH1B1 | c.804C>T (p.His268=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396553C>A | CA373511804 | ALDH1B1 | c.805C>A (p.Leu269Met) | |
| 9 | g.38396553C>G | CA373511806 | ALDH1B1 | c.805C>G (p.Leu269Val) | |
| 9 | g.38396553C>T | CA465127415 | ALDH1B1 | c.805C>T (p.Leu269=) | |
| 9 | g.38396554T>A | CA373511812 | ALDH1B1 | c.806T>A (p.Leu269Gln) | |
| 9 | g.38396554T>C | CA373511809 | ALDH1B1 | c.806T>C (p.Leu269Pro) | |
| 9 | g.38396554T>G | CA373511810 | ALDH1B1 | c.806T>G (p.Leu269Arg) | |
| 9 | g.38396555G>A | CA465127418 | ALDH1B1 | c.807G>A (p.Leu269=) | |
| 9 | g.38396555G>C | CA465127417 | ALDH1B1 | c.807G>C (p.Leu269=) | |
| 9 | g.38396555G>T | CA465127416 | ALDH1B1 | c.807G>T (p.Leu269=) | |
| 9 | g.38396556A>C | CA373511815 | ALDH1B1 | c.808A>C (p.Ile270Leu) | |
| 9 | g.38396556A>G | CA373511817 | ALDH1B1 | c.808A>G (p.Ile270Val) | |
| 9 | g.38396556A>T | CA373511819 | ALDH1B1 | c.808A>T (p.Ile270Phe) | |
| 9 | g.38396557T>A | CA373511821 | ALDH1B1 | c.809T>A (p.Ile270Asn) | |
| 9 | g.38396557T>C | CA373511823 | ALDH1B1 | c.809T>C (p.Ile270Thr) | |
| 9 | g.38396557T>G | CA373511824 | ALDH1B1 | c.809T>G (p.Ile270Ser) | |
| 9 | g.38396557T= | CA1847332695 | ALDH1B1 | c.809T= (p.Ile270=) | |
| 9 | g.38396557_38396558insGG | CA1847332702 | ALDH1B1 | c.809_810insGG (p.Ile270MetfsTer?) | dbSNP |
| 9 | g.38396558C>A | CA465127422 | ALDH1B1 | c.810C>A (p.Ile270=) | |
| 9 | g.38396558C= | CA1847332703 | ALDH1B1 | c.810C= (p.Ile270=) | |
| 9 | g.38396558C>G | CA5063986 | ALDH1B1 | c.810C>G (p.Ile270Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396558C>T | CA465127421 | ALDH1B1 | c.810C>T (p.Ile270=) | |
| 9 | g.38396559C>A | CA373511827 | ALDH1B1 | c.811C>A (p.Gln271Lys) | |
| 9 | g.38396559C= | CA1847332706 | ALDH1B1 | c.811C= (p.Gln271=) | |
| 9 | g.38396559C>G | CA373511829 | ALDH1B1 | c.811C>G (p.Gln271Glu) | |
| 9 | g.38396559C>T | CA373511831 | ALDH1B1 | c.811C>T (p.Gln271Ter) | |
| 9 | g.38396559_38396560insG | CA1847332708 | ALDH1B1 | c.811_812insG (p.Gln271ArgfsTer19) | dbSNP |
| 9 | g.38396560A>C | CA373511834 | ALDH1B1 | c.812A>C (p.Gln271Pro) | |
| 9 | g.38396560A>G | CA373511836 | ALDH1B1 | c.812A>G (p.Gln271Arg) | |
| 9 | g.38396560A>T | CA373511833 | ALDH1B1 | c.812A>T (p.Gln271Leu) | |
| 9 | g.38396561G>A | CA465127426 | ALDH1B1 | c.813G>A (p.Gln271=) | |
| 9 | g.38396561G>C | CA373511838 | ALDH1B1 | c.813G>C (p.Gln271His) | |
| 9 | g.38396561G>T | CA373511840 | ALDH1B1 | c.813G>T (p.Gln271His) | |
| 9 | g.38396562A>C | CA373511842 | ALDH1B1 | c.814A>C (p.Lys272Gln) | |
| 9 | g.38396562A>G | CA373511845 | ALDH1B1 | c.814A>G (p.Lys272Glu) | |
| 9 | g.38396562A>T | CA373511847 | ALDH1B1 | c.814A>T (p.Lys272Ter) | |
| 9 | g.38396563A= | CA1847332714 | ALDH1B1 | c.815A= (p.Lys272=) | |
| 9 | g.38396563A>C | CA373511850 | ALDH1B1 | c.815A>C (p.Lys272Thr) | |
| 9 | g.38396563A>G | CA5063987 | ALDH1B1 | c.815A>G (p.Lys272Arg) | dbSNP ExAC gnomAD v4 |
| 9 | g.38396563A>T | CA373511853 | ALDH1B1 | c.815A>T (p.Lys272Ile) | |
| 9 | g.38396564A>C | CA373511856 | ALDH1B1 | c.816A>C (p.Lys272Asn) | |
| 9 | g.38396564A>G | CA465127427 | ALDH1B1 | c.816A>G (p.Lys272=) | |
| 9 | g.38396564A>T | CA373511858 | ALDH1B1 | c.816A>T (p.Lys272Asn) | |
| 9 | g.38396565G>A | CA373511861 | ALDH1B1 | c.817G>A (p.Ala273Thr) | |
| 9 | g.38396565G>C | CA373511863 | ALDH1B1 | c.817G>C (p.Ala273Pro) | |
| 9 | g.38396565G>T | CA373511866 | ALDH1B1 | c.817G>T (p.Ala273Ser) | |
| 9 | g.38396566C>A | CA373511873 | ALDH1B1 | c.818C>A (p.Ala273Glu) | |
| 9 | g.38396566C>G | CA373511871 | ALDH1B1 | c.818C>G (p.Ala273Gly) | |
| 9 | g.38396566C>T | CA373511869 | ALDH1B1 | c.818C>T (p.Ala273Val) | |
| 9 | g.38396567A>C | CA465127429 | ALDH1B1 | c.819A>C (p.Ala273=) | |
| 9 | g.38396567A>G | CA465127430 | ALDH1B1 | c.819A>G (p.Ala273=) | |
| 9 | g.38396567A>T | CA465127431 | ALDH1B1 | c.819A>T (p.Ala273=) | |
| 9 | g.38396568G>A | CA373511876 | ALDH1B1 | c.820G>A (p.Ala274Thr) | |
| 9 | g.38396568G>C | CA373511878 | ALDH1B1 | c.820G>C (p.Ala274Pro) | |
| 9 | g.38396568G>T | CA373511880 | ALDH1B1 | c.820G>T (p.Ala274Ser) | |
| 9 | g.38396569C>A | CA373511884 | ALDH1B1 | c.821C>A (p.Ala274Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.38396569C= | CA1847332719 | ALDH1B1 | c.821C= (p.Ala274=) | |
| 9 | g.38396569C>G | CA373511886 | ALDH1B1 | c.821C>G (p.Ala274Gly) | |
| 9 | g.38396569C>T | CA5063988 | ALDH1B1 | c.821C>T (p.Ala274Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396570T>A | CA465127437 | ALDH1B1 | c.822T>A (p.Ala274=) | |
| 9 | g.38396570T>C | CA465127435 | ALDH1B1 | c.822T>C (p.Ala274=) | gnomAD v4 |
| 9 | g.38396570T>G | CA465127436 | ALDH1B1 | c.822T>G (p.Ala274=) | |
| 9 | g.38396571G>A | CA192998123 | ALDH1B1 | c.823G>A (p.Gly275Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396571G>C | CA373511892 | ALDH1B1 | c.823G>C (p.Gly275Arg) | |
| 9 | g.38396571G= | CA1847332726 | ALDH1B1 | c.823G= (p.Gly275=) | |
| 9 | g.38396571G>T | CA373511894 | ALDH1B1 | c.823G>T (p.Gly275Cys) | |
| 9 | g.38396571_38396572insC | CA1847332732 | ALDH1B1 | c.823_824insC (p.Gly275AlafsTer15) | dbSNP |
| 9 | g.38396572G>A | CA373511896 | ALDH1B1 | c.824G>A (p.Gly275Asp) | gnomAD v4 COSMIC |
| 9 | g.38396572G>C | CA373511899 | ALDH1B1 | c.824G>C (p.Gly275Ala) | |
| 9 | g.38396572G>T | CA373511901 | ALDH1B1 | c.824G>T (p.Gly275Val) | |
| 9 | g.38396573C>A | CA465127442 | ALDH1B1 | c.825C>A (p.Gly275=) | |
| 9 | g.38396573C= | CA1847332733 | ALDH1B1 | c.825C= (p.Gly275=) | |
| 9 | g.38396573C>G | CA465127439 | ALDH1B1 | c.825C>G (p.Gly275=) | |
| 9 | g.38396573C>T | CA5063989 | ALDH1B1 | c.825C>T (p.Gly275=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.38396574G>A | CA5063990 | ALDH1B1 | c.826G>A (p.Asp276Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396574G>C | CA373511909 | ALDH1B1 | c.826G>C (p.Asp276His) | |
| 9 | g.38396574G= | CA1847332738 | ALDH1B1 | c.826G= (p.Asp276=) | |
| 9 | g.38396574G>T | CA373511906 | ALDH1B1 | c.826G>T (p.Asp276Tyr) | |
| 9 | g.38396575A= | CA1847332743 | ALDH1B1 | c.827A= (p.Asp276=) | |
| 9 | g.38396575A>C | CA5063991 | ALDH1B1 | c.827A>C (p.Asp276Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.38396575A>G | CA373511916 | ALDH1B1 | c.827A>G (p.Asp276Gly) | |
| 9 | g.38396575A>T | CA373511914 | ALDH1B1 | c.827A>T (p.Asp276Val) | |
| 9 | g.38396576T>A | CA373511919 | ALDH1B1 | c.828T>A (p.Asp276Glu) | |
| 9 | g.38396576T>C | CA465127447 | ALDH1B1 | c.828T>C (p.Asp276=) | |
| 9 | g.38396576T>G | CA373511921 | ALDH1B1 | c.828T>G (p.Asp276Glu) | |
| 9 | g.38396577T>A | CA373511924 | ALDH1B1 | c.829T>A (p.Ser277Thr) | |
| 9 | g.38396577T>C | CA373511927 | ALDH1B1 | c.829T>C (p.Ser277Pro) | |
| 9 | g.38396577T>G | CA373511925 | ALDH1B1 | c.829T>G (p.Ser277Ala) | |
| 9 | g.38396578C>A | CA373511930 | ALDH1B1 | c.830C>A (p.Ser277Tyr) | |
| 9 | g.38396578C>G | CA373511932 | ALDH1B1 | c.830C>G (p.Ser277Cys) | |
| 9 | g.38396578C>T | CA373511934 | ALDH1B1 | c.830C>T (p.Ser277Phe) | |
| 9 | g.38396579C>A | CA465127452 | ALDH1B1 | c.831C>A (p.Ser277=) | dbSNP |
| 9 | g.38396579C= | CA1847332748 | ALDH1B1 | c.831C= (p.Ser277=) | |
| 9 | g.38396579C>G | CA465127451 | ALDH1B1 | c.831C>G (p.Ser277=) | |
| 9 | g.38396579C>T | CA5063992 | ALDH1B1 | c.831C>T (p.Ser277=) | dbSNP ExAC |
| 9 | g.38396580A>C | CA373511939 | ALDH1B1 | c.832A>C (p.Asn278His) | |
| 9 | g.38396580A>G | CA373511941 | ALDH1B1 | c.832A>G (p.Asn278Asp) | |
| 9 | g.38396580A>T | CA373511943 | ALDH1B1 | c.832A>T (p.Asn278Tyr) | |
| 9 | g.38396581A= | CA1847332757 | ALDH1B1 | c.833A= (p.Asn278=) | |
| 9 | g.38396581A>C | CA373511947 | ALDH1B1 | c.833A>C (p.Asn278Thr) | |
| 9 | g.38396581A>G | CA5063993 | ALDH1B1 | c.833A>G (p.Asn278Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.38396581A>T | CA373511950 | ALDH1B1 | c.833A>T (p.Asn278Ile) | |
| 9 | g.38396582C>A | CA373511952 | ALDH1B1 | c.834C>A (p.Asn278Lys) | |
| 9 | g.38396582C>G | CA373511954 | ALDH1B1 | c.834C>G (p.Asn278Lys) | |
| 9 | g.38396582C>T | CA465127456 | ALDH1B1 | c.834C>T (p.Asn278=) | |
| 9 | g.38396583C>A | CA373511962 | ALDH1B1 | c.835C>A (p.Leu279Ile) | |
| 9 | g.38396583C>G | CA373511958 | ALDH1B1 | c.835C>G (p.Leu279Val) | |
| 9 | g.38396583C>T | CA373511960 | ALDH1B1 | c.835C>T (p.Leu279Phe) | |
| 9 | g.38396584T>A | CA373511966 | ALDH1B1 | c.836T>A (p.Leu279His) | |
| 9 | g.38396584T>C | CA373511968 | ALDH1B1 | c.836T>C (p.Leu279Pro) | |
| 9 | g.38396584T>G | CA373511970 | ALDH1B1 | c.836T>G (p.Leu279Arg) | |
| 9 | g.38396585C>A | CA465127462 | ALDH1B1 | c.837C>A (p.Leu279=) | |
| 9 | g.38396585C>G | CA465127460 | ALDH1B1 | c.837C>G (p.Leu279=) | |
| 9 | g.38396585C>T | CA465127463 | ALDH1B1 | c.837C>T (p.Leu279=) | |
| 9 | g.38396586A= | CA1847332764 | ALDH1B1 | c.838A= (p.Lys280=) | |
| 9 | g.38396586A>C | CA373511972 | ALDH1B1 | c.838A>C (p.Lys280Gln) | |
| 9 | g.38396586A>G | CA373511975 | ALDH1B1 | c.838A>G (p.Lys280Glu) | dbSNP |
| 9 | g.38396586A>T | CA373511977 | ALDH1B1 | c.838A>T (p.Lys280Ter) | |
| 9 | g.38396586_38396588delinsAAG | CA1847332763 | ALDH1B1 | c.838_840delinsAAG (p.Lys280=) | |
| 9 | g.38396587A>C | CA373511982 | ALDH1B1 | c.839A>C (p.Lys280Thr) | |
| 9 | g.38396587A>G | CA373511984 | ALDH1B1 | c.839A>G (p.Lys280Arg) | gnomAD v4 |
| 9 | g.38396587A>T | CA373511986 | ALDH1B1 | c.839A>T (p.Lys280Met) | |
| 9 | g.38396591_38396592del | CA5063994 | ALDH1B1 | c.843_844del (p.Arg281SerfsTer8) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396588G>A | CA465127465 | ALDH1B1 | c.840G>A (p.Lys280=) | |
| 9 | g.38396588G>C | CA373511994 | ALDH1B1 | c.840G>C (p.Lys280Asn) | dbSNP |
| 9 | g.38396588G>T | CA373511993 | ALDH1B1 | c.840G>T (p.Lys280Asn) | |
| 9 | g.38396589A= | CA1847332777 | ALDH1B1 | c.841A= (p.Arg281=) | |
| 9 | g.38396589A>C | CA465127466 | ALDH1B1 | c.841A>C (p.Arg281=) | dbSNP |
| 9 | g.38396589A>G | CA373511997 | ALDH1B1 | c.841A>G (p.Arg281Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.38396589A>T | CA373511998 | ALDH1B1 | c.841A>T (p.Arg281Ter) | dbSNP |
| 9 | g.38396590G>A | CA373512001 | ALDH1B1 | c.842G>A (p.Arg281Lys) | COSMIC |
| 9 | g.38396590G>C | CA192998175 | ALDH1B1 | c.842G>C (p.Arg281Thr) | dbSNP |
| 9 | g.38396590G= | CA1847332784 | ALDH1B1 | c.842G= (p.Arg281=) | |
| 9 | g.38396590G>T | CA373512005 | ALDH1B1 | c.842G>T (p.Arg281Ile) | |
| 9 | g.38396591A= | CA1847332789 | ALDH1B1 | c.843A= (p.Arg281=) | |
| 9 | g.38396591A>C | CA373512008 | ALDH1B1 | c.843A>C (p.Arg281Ser) | |
| 9 | g.38396591A>G | CA465127468 | ALDH1B1 | c.843A>G (p.Arg281=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396591A>T | CA373512010 | ALDH1B1 | c.843A>T (p.Arg281Ser) | |
| 9 | g.38396592G>A | CA373512013 | ALDH1B1 | c.844G>A (p.Val282Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.38396592G>C | CA373512015 | ALDH1B1 | c.844G>C (p.Val282Leu) | |
| 9 | g.38396592G= | CA1847332792 | ALDH1B1 | c.844G= (p.Val282=) | |
| 9 | g.38396592G>T | CA373512017 | ALDH1B1 | c.844G>T (p.Val282Phe) | |
| 9 | g.38396593T>A | CA373512021 | ALDH1B1 | c.845T>A (p.Val282Asp) | |
| 9 | g.38396593T>C | CA373512023 | ALDH1B1 | c.845T>C (p.Val282Ala) | gnomAD v4 |
| 9 | g.38396593T>G | CA373512025 | ALDH1B1 | c.845T>G (p.Val282Gly) | |
| 9 | g.38396594C>A | CA465127476 | ALDH1B1 | c.846C>A (p.Val282=) | |
| 9 | g.38396594C>G | CA465127478 | ALDH1B1 | c.846C>G (p.Val282=) | |
| 9 | g.38396594C>T | CA465127480 | ALDH1B1 | c.846C>T (p.Val282=) | |
| 9 | g.38396595A>C | CA373512033 | ALDH1B1 | c.847A>C (p.Thr283Pro) | |
| 9 | g.38396595A>G | CA373512029 | ALDH1B1 | c.847A>G (p.Thr283Ala) | |
| 9 | g.38396595A>T | CA373512031 | ALDH1B1 | c.847A>T (p.Thr283Ser) | |
| 9 | g.38396595_38396596delinsAC | CA1847332793 | ALDH1B1 | c.847_848delinsAC (p.Thr283=) | |
| 9 | g.38396596C>A | CA373512036 | ALDH1B1 | c.848C>A (p.Thr283Asn) | |
| 9 | g.38396596C>G | CA373512037 | ALDH1B1 | c.848C>G (p.Thr283Ser) | |
| 9 | g.38396596C>T | CA373512040 | ALDH1B1 | c.848C>T (p.Thr283Ile) | COSMIC |
| 9 | g.38396598del | CA5063995 | ALDH1B1 | c.850del (p.Leu284TrpfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.38396597C>A | CA465127486 | ALDH1B1 | c.849C>A (p.Thr283=) | |
| 9 | g.38396597C>G | CA465127485 | ALDH1B1 | c.849C>G (p.Thr283=) | |
| 9 | g.38396597C>T | CA465127484 | ALDH1B1 | c.849C>T (p.Thr283=) | |
| 9 | g.38396598C>A | CA192998190 | ALDH1B1 | c.850C>A (p.Leu284Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396598C= | CA1847332797 | ALDH1B1 | c.850C= (p.Leu284=) | |
| 9 | g.38396598C>G | CA373512045 | ALDH1B1 | c.850C>G (p.Leu284Val) | |
| 9 | g.38396598C>T | CA465127487 | ALDH1B1 | c.850C>T (p.Leu284=) | gnomAD v4 |
| 9 | g.38396599T>A | CA373512048 | ALDH1B1 | c.851T>A (p.Leu284Gln) | |
| 9 | g.38396599T>C | CA373512050 | ALDH1B1 | c.851T>C (p.Leu284Pro) | |
| 9 | g.38396599T>G | CA373512052 | ALDH1B1 | c.851T>G (p.Leu284Arg) | |
| 9 | g.38396600G>A | CA465127494 | ALDH1B1 | c.852G>A (p.Leu284=) | |
| 9 | g.38396600G>C | CA465127493 | ALDH1B1 | c.852G>C (p.Leu284=) | |
| 9 | g.38396600G>T | CA465127491 | ALDH1B1 | c.852G>T (p.Leu284=) | |
| 9 | g.38396601G>A | CA373512055 | ALDH1B1 | c.853G>A (p.Glu285Lys) | dbSNP |
| 9 | g.38396601G>C | CA373512056 | ALDH1B1 | c.853G>C (p.Glu285Gln) | |
| 9 | g.38396601G= | CA1847332800 | ALDH1B1 | c.853G= (p.Glu285=) | |
| 9 | g.38396601G>T | CA373512059 | ALDH1B1 | c.853G>T (p.Glu285Ter) | |
| 9 | g.38396602A>C | CA373512066 | ALDH1B1 | c.854A>C (p.Glu285Ala) | |
| 9 | g.38396602A>G | CA373512064 | ALDH1B1 | c.854A>G (p.Glu285Gly) | |
| 9 | g.38396602A>T | CA373512062 | ALDH1B1 | c.854A>T (p.Glu285Val) | |
| 9 | g.38396603G>A | CA192998193 | ALDH1B1 | c.855G>A (p.Glu285=) | dbSNP gnomAD v4 |
| 9 | g.38396603G>C | CA373512070 | ALDH1B1 | c.855G>C (p.Glu285Asp) | |
| 9 | g.38396603G= | CA1847332802 | ALDH1B1 | c.855G= (p.Glu285=) | |
| 9 | g.38396603G>T | CA373512073 | ALDH1B1 | c.855G>T (p.Glu285Asp) | |
| 9 | g.38396604C>A | CA373512076 | ALDH1B1 | c.856C>A (p.Leu286Met) | |
| 9 | g.38396604C= | CA1847332805 | ALDH1B1 | c.856C= (p.Leu286=) | |
| 9 | g.38396604C>G | CA373512078 | ALDH1B1 | c.856C>G (p.Leu286Val) | |
| 9 | g.38396604C>T | CA465127498 | ALDH1B1 | c.856C>T (p.Leu286=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.38396605T>A | CA373512080 | ALDH1B1 | c.857T>A (p.Leu286Gln) | |
| 9 | g.38396605T>C | CA373512082 | ALDH1B1 | c.857T>C (p.Leu286Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.38396605T>G | CA373512084 | ALDH1B1 | c.857T>G (p.Leu286Arg) | |
| 9 | g.38396605T= | CA1847332812 | ALDH1B1 | c.857T= (p.Leu286=) | |
| 9 | g.38396605_38396606delinsTG | CA1847332809 | ALDH1B1 | c.857_858delinsTG (p.Leu286=) | |
| 9 | g.38396606G>A | CA465127501 | ALDH1B1 | c.858G>A (p.Leu286=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.38396606G>C | CA465127502 | ALDH1B1 | c.858G>C (p.Leu286=) | |
| 9 | g.38396606G= | CA1847332816 | ALDH1B1 | c.858G= (p.Leu286=) | |
| 9 | g.38396606G>T | CA465127503 | ALDH1B1 | c.858G>T (p.Leu286=) | |
| 9 | g.38396608del | CA863818221 | ALDH1B1 | c.860del (p.Gly287ValfsTer?) | dbSNP |
| 9 | g.38396606_38396609delinsGGGT | CA1847332814 | ALDH1B1 | c.858_861delinsGGGT (p.Leu286=) | |
| 9 | g.38396607G>A | CA5063996 | ALDH1B1 | c.859G>A (p.Gly287Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.38396607G>C | CA373512089 | ALDH1B1 | c.859G>C (p.Gly287Arg) | |
| 9 | g.38396607G= | CA1847332821 | ALDH1B1 | c.859G= (p.Gly287=) | |
| 9 | g.38396607G>T | CA373512091 | ALDH1B1 | c.859G>T (p.Gly287Cys) | |
| 9 | g.38396610_38396612del | CA1847332819 | ALDH1B1 | c.862_864del (p.Gly288del) | dbSNP |
| 9 | g.38396608_38396615dup | CA2690019376 | ALDH1B1 | c.860_867dup (p.Ser290ValfsTer?) | gnomAD v4 |
| 9 | g.38396608G>A | CA373512094 | ALDH1B1 | c.860G>A (p.Gly287Asp) | gnomAD v4 |
| 9 | g.38396608G>C | CA373512096 | ALDH1B1 | c.860G>C (p.Gly287Ala) | |
| 9 | g.38396608G>T | CA373512098 | ALDH1B1 | c.860G>T (p.Gly287Val) | |
| 9 | g.38396609T>A | CA192998226 | ALDH1B1 | c.861T>A (p.Gly287=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.38396609T>C | CA465127509 | ALDH1B1 | c.861T>C (p.Gly287=) | |
| 9 | g.38396609T>G | CA465127511 | ALDH1B1 | c.861T>G (p.Gly287=) | |
| 9 | g.38396609T= | CA1847332826 | ALDH1B1 | c.861T= (p.Gly287=) | |
| 9 | g.38396610G>A | CA373512108 | ALDH1B1 | c.862G>A (p.Gly288Ser) | |
| 9 | g.38396610G>C | CA373512104 | ALDH1B1 | c.862G>C (p.Gly288Arg) | |
| 9 | g.38396610G>T | CA373512106 | ALDH1B1 | c.862G>T (p.Gly288Cys) | |
| 9 | g.38396611G>A | CA373512111 | ALDH1B1 | c.863G>A (p.Gly288Asp) | |
| 9 | g.38396611G>C | CA373512113 | ALDH1B1 | c.863G>C (p.Gly288Ala) | |
| 9 | g.38396611G>T | CA373512115 | ALDH1B1 | c.863G>T (p.Gly288Val) | |
| 9 | g.38396612T>A | CA465127515 | ALDH1B1 | c.864T>A (p.Gly288=) | |
| 9 | g.38396612T>C | CA465127516 | ALDH1B1 | c.864T>C (p.Gly288=) | |
| 9 | g.38396612T>G | CA465127517 | ALDH1B1 | c.864T>G (p.Gly288=) | |
| 9 | g.38396613A>C | CA373512117 | ALDH1B1 | c.865A>C (p.Lys289Gln) | |
| 9 | g.38396613A>G | CA373512119 | ALDH1B1 | c.865A>G (p.Lys289Glu) | |
| 9 | g.38396613A>T | CA373512122 | ALDH1B1 | c.865A>T (p.Lys289Ter) | |
| 9 | g.38396614A>C | CA373512125 | ALDH1B1 | c.866A>C (p.Lys289Thr) | |
| 9 | g.38396614A>G | CA373512127 | ALDH1B1 | c.866A>G (p.Lys289Arg) | |
| 9 | g.38396614A>T | CA373512129 | ALDH1B1 | c.866A>T (p.Lys289Met) | |
| 9 | g.38396615G>A | CA465127522 | ALDH1B1 | c.867G>A (p.Lys289=) | gnomAD v4 |
| 9 | g.38396615G>C | CA373512132 | ALDH1B1 | c.867G>C (p.Lys289Asn) | |
| 9 | g.38396615G>T | CA373512134 | ALDH1B1 | c.867G>T (p.Lys289Asn) | |
| 9 | g.38396616A>C | CA373512139 | ALDH1B1 | c.868A>C (p.Ser290Arg) | |
| 9 | g.38396616A>G | CA373512141 | ALDH1B1 | c.868A>G (p.Ser290Gly) | |
| 9 | g.38396616A>T | CA373512137 | ALDH1B1 | c.868A>T (p.Ser290Cys) | |
| 9 | g.38396617G>A | CA5063997 | ALDH1B1 | c.869G>A (p.Ser290Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.38396617G>C | CA373512145 | ALDH1B1 | c.869G>C (p.Ser290Thr) | |
| 9 | g.38396617G= | CA1847332828 | ALDH1B1 | c.869G= (p.Ser290=) | |
| 9 | g.38396617G>T | CA373512147 | ALDH1B1 | c.869G>T (p.Ser290Ile) | |
| 9 | g.38396618C>A | CA373512151 | ALDH1B1 | c.870C>A (p.Ser290Arg) | |
| 9 | g.38396618C= | CA1847332831 | ALDH1B1 | c.870C= (p.Ser290=) | |
| 9 | g.38396618C>G | CA373512153 | ALDH1B1 | c.870C>G (p.Ser290Arg) | |
| 9 | g.38396618C>T | CA465127530 | ALDH1B1 | c.870C>T (p.Ser290=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.38396619C>A | CA373512161 | ALDH1B1 | c.871C>A (p.Pro291Thr) | |
| 9 | g.38396619C= | CA1847332835 | ALDH1B1 | c.871C= (p.Pro291=) | |
| 9 | g.38396619C>G | CA373512159 | ALDH1B1 | c.871C>G (p.Pro291Ala) | |
| 9 | g.38396619C>T | CA373512156 | ALDH1B1 | c.871C>T (p.Pro291Ser) | dbSNP |
| 9 | g.38396620C>A | CA373512163 | ALDH1B1 | c.872C>A (p.Pro291His) | |
| 9 | g.38396620C= | CA1847332838 | ALDH1B1 | c.872C= (p.Pro291=) | |
| 9 | g.38396620C>G | CA373512166 | ALDH1B1 | c.872C>G (p.Pro291Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.38396620C>T | CA5063998 | ALDH1B1 | c.872C>T (p.Pro291Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.38396621C>A | CA465127531 | ALDH1B1 | c.873C>A (p.Pro291=) | |
| 9 | g.38396621C>G | CA465127532 | ALDH1B1 | c.873C>G (p.Pro291=) | |
| 9 | g.38396621C>T | CA465127533 | ALDH1B1 | c.873C>T (p.Pro291=) | gnomAD v4 |