6 | g.80106511A= | CA1640908485 | | | |
6 | g.80106511A>G | CA2679496707 | | | gnomAD v4 |
6 | g.80106511A>T | CA1090973674 | | | dbSNP gnomAD v3 gnomAD v4 |
6 | g.80106512del | CA2679496706 | | | gnomAD v4 |
6 | g.80106512A= | CA1640908486 | | | |
6 | g.80106512A>G | CA1640908487 | | | dbSNP gnomAD v4 |
6 | g.80106513G>A | CA142276789 | | | dbSNP gnomAD v3 gnomAD v4 |
6 | g.80106513G= | CA1640908488 | | | |
6 | g.80106513G>T | CA2679496708 | | | gnomAD v4 |
6 | g.80106514G>A | CA2679496709 | | | gnomAD v4 |
6 | g.80106514G>C | CA1640908489 | | | dbSNP gnomAD v4 |
6 | g.80106514G= | CA1640908490 | | | |
6 | g.80106514G>T | CA2679496710 | | | gnomAD v4 |
6 | g.80106516G>A | CA1090973677 | | | dbSNP gnomAD v3 gnomAD v4 |
6 | g.80106516G= | CA1640908491 | | | |
6 | g.80106517C>A | CA2679496711 | | | gnomAD v4 |
6 | g.80106517C= | CA1640908492 | | | |
6 | g.80106517C>G | CA142276790 | | | dbSNP gnomAD v4 |
6 | g.80106517C>T | CA2679496712 | | | gnomAD v4 |
6 | g.80106518A>G | CA2679496713 | | | gnomAD v4 |
6 | g.80106518A>T | CA2679496714 | | | gnomAD v4 |
6 | g.80106519G>A | CA2712190232 | | | dbSNP |
6 | g.80106519G>C | CA2679496715 | | | gnomAD v4 |
6 | g.80106520A>G | CA2679496716 | | | gnomAD v4 |
6 | g.80106521A>C | CA2679496717 | | | gnomAD v4 |
6 | g.80106522G>A | CA2712190234 | | | dbSNP |
6 | g.80106522G>T | CA2679496718 | | | gnomAD v4 |
6 | g.80106523C>A | CA2679496719 | | | gnomAD v4 |
6 | g.80106523C>T | CA2679496720 | | | gnomAD v4 |
6 | g.80106524C>A | CA1640908493 | | | dbSNP gnomAD v4 |
6 | g.80106524C= | CA1640908494 | | | |
6 | g.80106524C>T | CA142276791 | | | dbSNP gnomAD v4 |
6 | g.80106525G>A | CA2679496721 | | | dbSNP gnomAD v4 |
6 | g.80106525G>C | CA828529996 | | | dbSNP gnomAD v3 gnomAD v4 |
6 | g.80106525G= | CA1640908495 | | | |
6 | g.80106525G>T | CA1640908496 | | | dbSNP gnomAD v4 |
6 | g.80106526A= | CA1640908497 | | | |
6 | g.80106526A>C | CA1640908498 | | | dbSNP gnomAD v4 |
6 | g.80106526A>G | CA142276792 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80106527C>A | CA828529998 | | | dbSNP gnomAD v4 |
6 | g.80106527C= | CA1640908499 | | | |
6 | g.80106527C>G | CA2679496723 | | | gnomAD v4 |
6 | g.80106527C>T | CA2679496722 | | | gnomAD v4 |
6 | g.80106528C>A | CA142276793 | | | dbSNP gnomAD v4 |
6 | g.80106528C= | CA1640908500 | | | |
6 | g.80106528C>T | CA2679496724 | | | gnomAD v4 |
6 | g.80106529A= | CA1640908501 | | | |
6 | g.80106529A>C | CA2679496727 | | | gnomAD v4 |
6 | g.80106529A>G | CA1090973682 | | | dbSNP gnomAD v3 gnomAD v4 |
6 | g.80106529A>T | CA142276794 | | | dbSNP gnomAD v4 |
6 | g.80106530G>A | CA2679496730 | | | dbSNP gnomAD v4 |
6 | g.80106530G>C | CA2679496732 | | | gnomAD v4 |
6 | g.80106530G>T | CA2679496733 | | | gnomAD v4 |
6 | g.80106531C>A | CA2679496734 | | | gnomAD v4 |
6 | g.80106532T>A | CA2525735491 | | | |
6 | g.80106533C>A | CA568600900 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80106533C= | CA1640908502 | | | |
6 | g.80106533C>T | CA142276795 | | | dbSNP gnomAD v3 gnomAD v4 |
6 | g.80106534G>A | CA2679496740 | | | dbSNP gnomAD v4 |
6 | g.80106534G>C | CA828530011 | | | dbSNP gnomAD v3 gnomAD v4 |
6 | g.80106534G= | CA1640908503 | | | |
6 | g.80106534G>T | CA568600901 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80106535T>A | CA1640908505 | | | dbSNP gnomAD v4 |
6 | g.80106535T>C | CA2529973238 | | | gnomAD v4 |
6 | g.80106535T= | CA1640908504 | | | |
6 | g.80106536C>A | CA2679496746 | | | gnomAD v4 |
6 | g.80106536C= | CA1640908506 | | | |
6 | g.80106536C>T | CA1090973688 | | | dbSNP gnomAD v3 gnomAD v4 |
6 | g.80106537A= | CA1640908507 | | | |
6 | g.80106537A>C | CA142276796 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80106537A>T | CA568600902 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80106538C>A | CA568600903 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80106538C= | CA1640908508 | | | |
6 | g.80106538C>T | CA142276797 | | | dbSNP gnomAD v4 |
6 | g.80106539G>A | CA2679496759 | | | dbSNP gnomAD v4 |
6 | g.80106539G>T | CA2679496762 | | | gnomAD v4 |
6 | g.80106540T>C | CA1640908510 | | | dbSNP gnomAD v4 |
6 | g.80106540T>G | CA828530018 | | | dbSNP gnomAD v3 gnomAD v4 |
6 | g.80106540T= | CA1640908509 | | | |
6 | g.80106541C>A | CA1640908513 | | | dbSNP gnomAD v4 |
6 | g.80106541C= | CA1640908511 | | | |
6 | g.80106541C>G | CA1640908512 | | | dbSNP gnomAD v4 |
6 | g.80106541C>T | CA828530027 | | | dbSNP gnomAD v3 gnomAD v4 |
6 | g.80106542G>A | CA828530029 | | | dbSNP gnomAD v3 gnomAD v4 |
6 | g.80106542G>C | CA828530028 | | | dbSNP gnomAD v4 |
6 | g.80106542G= | CA1640908514 | | | |
6 | g.80106542G>T | CA2679496767 | | | gnomAD v4 |
6 | g.80106543C>A | CA2679496770 | | | gnomAD v4 |
6 | g.80106543C= | CA1640908515 | | | |
6 | g.80106543C>T | CA828530032 | | | dbSNP gnomAD v3 gnomAD v4 |
6 | g.80106544C>A | CA2679496772 | | | gnomAD v4 |
6 | g.80106544C= | CA1640908516 | | | |
6 | g.80106544C>T | CA1640908517 | | | dbSNP gnomAD v4 |
6 | g.80106545T>C | CA2679496774 | | | gnomAD v4 |
6 | g.80106545T>G | CA2771864791 | | | |
6 | g.80106546del | CA2679496773 | | | gnomAD v4 |
6 | g.80106546T>C | CA1640908518 | | | dbSNP gnomAD v4 |
6 | g.80106546T= | CA1640908519 | | | |
6 | g.80106553_80106646del | CA2679496775 | | | gnomAD v4 |
6 | g.80106547C>A | CA2679496783 | | | gnomAD v4 |
6 | g.80106547C>T | CA2679496784 | | | gnomAD v4 |
6 | g.80106550del | CA2679496781 | | | gnomAD v4 |
6 | g.80106548C>A | CA2679496788 | | | gnomAD v4 |
6 | g.80106548C>T | CA2679496790 | | | gnomAD v4 |
6 | g.80106549C>A | CA2679496794 | | | gnomAD v4 |
6 | g.80106549C= | CA1640908520 | | | |
6 | g.80106549C>G | CA828530040 | | | dbSNP gnomAD v4 |
6 | g.80106549C>T | CA2679496792 | | | gnomAD v4 |
6 | g.80106550C>A | CA2679496796 | | | gnomAD v4 |
6 | g.80106550C>T | CA2679496797 | | | gnomAD v4 |
6 | g.80106550_80106551insT | CA2712190291 | | | dbSNP |
6 | g.80106551G>A | CA2679496799 | | | gnomAD v4 |
6 | g.80106551G>T | CA2679496801 | | | gnomAD v4 |
6 | g.80106552C>A | CA2679496804 | | | gnomAD v4 |
6 | g.80106555del | CA2523677950 | | | |
6 | g.80106553_80106555del | CA2679496803 | | | gnomAD v4 |
6 | g.80106553C>A | CA2679496806 | | | gnomAD v4 |
6 | g.80106553C= | CA1640908521 | | | |
6 | g.80106553C>G | CA2679496807 | | | gnomAD v4 |
6 | g.80106553C>T | CA1640908522 | | | dbSNP gnomAD v4 |
6 | g.80106554C>A | CA2679496808 | | | gnomAD v4 |
6 | g.80106554C>T | CA2679496809 | | | gnomAD v4 |
6 | g.80106555C>A | CA2679496811 | | | gnomAD v4 |
6 | g.80106555C>T | CA2679496812 | | | gnomAD v4 |
6 | g.80106555_80106561delinsCTAAATT | CA1640908523 | | | |
6 | g.80106556T>A | CA2679496815 | | | gnomAD v4 |
6 | g.80106556T>C | CA828530044 | | | dbSNP gnomAD v4 |
6 | g.80106556T>G | CA2679496813 | | | gnomAD v4 |
6 | g.80106556T= | CA1640908524 | | | |
6 | g.80106557_80106562del | CA828530041 | | | dbSNP |
6 | g.80106557A>C | CA2679496818 | | | gnomAD v4 |
6 | g.80106557A>T | CA2679496819 | | | gnomAD v4 |
6 | g.80106559del | CA2508476663 | | | gnomAD v4 |
6 | g.80106558A>C | CA2771864794 | | | |
6 | g.80106559A= | CA1640908526 | | | |
6 | g.80106559A>C | CA2679496822 | | | gnomAD v4 |
6 | g.80106559A>G | CA828530046 | | | dbSNP gnomAD v3 gnomAD v4 |
6 | g.80106559A>T | CA2679496825 | | | gnomAD v4 |
6 | g.80106559_80106560delinsAT | CA1640908525 | | | |
6 | g.80106560T>C | CA1090973704 | | | dbSNP gnomAD v3 gnomAD v4 |
6 | g.80106560T= | CA1640908527 | | | |
6 | g.80106562del | CA828530048 | | | dbSNP gnomAD v3 gnomAD v4 |
6 | g.80106561T>G | CA142276798 | | | dbSNP gnomAD v3 gnomAD v4 COSMIC |
6 | g.80106561T= | CA1640908528 | | | |
6 | g.80106562T>C | CA828530052 | | | dbSNP gnomAD v3 gnomAD v4 |
6 | g.80106562T= | CA1640908529 | | | |
6 | g.80106563C>A | CA2679496832 | | | gnomAD v4 |
6 | g.80106563C>G | CA2679496833 | | | gnomAD v4 |
6 | g.80106563C>T | CA2679496834 | | | gnomAD v4 |
6 | g.80106564C>A | CA2679496835 | | | gnomAD v4 |
6 | g.80106564C= | CA1640908530 | | | |
6 | g.80106564C>T | CA828530056 | | | dbSNP gnomAD v3 gnomAD v4 |
6 | g.80106565A= | CA1640908531 | | | |
6 | g.80106565A>G | CA142276799 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80106565A>T | CA2679496836 | | | gnomAD v4 |
6 | g.80106566G>A | CA2679496837 | | | gnomAD v4 |
6 | g.80106566G>T | CA2679496838 | | | gnomAD v4 |
6 | g.80106567T>A | CA2679496839 | | | gnomAD v4 |
6 | g.80106567T>C | CA2679496840 | | | gnomAD v4 |
6 | g.80106567T>G | CA2679496841 | | | gnomAD v4 |
6 | g.80106568T>C | CA2679496842 | | | gnomAD v4 |
6 | g.80106568T>G | CA2679496843 | | | gnomAD v4 |
6 | g.80106569C>A | CA2679496844 | | | gnomAD v4 |
6 | g.80106569C>T | CA2679496845 | | | gnomAD v4 |
6 | g.80106570C>A | CA2679496847 | | | gnomAD v4 |
6 | g.80106570C>T | CA2679496846 | | | gnomAD v4 |
6 | g.80106571G>A | CA2679496848 | | | gnomAD v4 |
6 | g.80106571G>T | CA2679496849 | | | gnomAD v4 |
6 | g.80106572A>C | CA2679496850 | | | gnomAD v4 |
6 | g.80106573T>A | CA2679496852 | | | gnomAD v4 |
6 | g.80106573T>C | CA2679496853 | | | gnomAD v4 |
6 | g.80106573T>G | CA2679496854 | | | gnomAD v4 |
6 | g.80106574del | CA2679496851 | | | gnomAD v4 |
6 | g.80106574T>C | CA2679496855 | | | gnomAD v4 |
6 | g.80106574T>G | CA2679496856 | | | gnomAD v4 |
6 | g.80106575G>A | CA2679496859 | | | gnomAD v4 |
6 | g.80106575G>T | CA2679496858 | | | gnomAD v4 |
6 | g.80106575_80106578del | CA2679496857 | | | gnomAD v4 |
6 | g.80106576G>A | CA2679496860 | | | gnomAD v4 |
6 | g.80106576G>T | CA2679496861 | | | gnomAD v4 |
6 | g.80106577T>C | CA2679496862 | | | gnomAD v4 |
6 | g.80106577T>G | CA2679496863 | | | gnomAD v4 |
6 | g.80106578C>A | CA2679496864 | | | gnomAD v4 |
6 | g.80106578C= | CA1640908532 | | | |
6 | g.80106578C>G | CA1090973706 | | | dbSNP gnomAD v3 gnomAD v4 |
6 | g.80106578C>T | CA1090973707 | | | dbSNP gnomAD v3 gnomAD v4 |
6 | g.80106579_80106604del | CA2712190321 | | | dbSNP |
6 | g.80106579T>A | CA1640908535 | | | dbSNP gnomAD v4 |
6 | g.80106579T>C | CA12382253 | | | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80106579T>G | CA1640908534 | | | dbSNP |
6 | g.80106579T= | CA1640908533 | | | |
6 | g.80106580G>A | CA2679496865 | | | gnomAD v4 |
6 | g.80106580G>C | CA2679496866 | | | gnomAD v4 |
6 | g.80106580G>T | CA2679496867 | | | gnomAD v4 |
6 | g.80106581T>C | CA2679496868 | | | gnomAD v4 |
6 | g.80106581T>G | CA2679496869 | | | gnomAD v4 |
6 | g.80106582T>C | CA142276800 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80106582T>G | CA2679496870 | | | gnomAD v4 |
6 | g.80106582T= | CA1640908536 | | | |
6 | g.80106583_80106584delinsTC | CA1640908537 | | | |
6 | g.80106584del | CA1640908538 | | | dbSNP |
6 | g.80106584C>A | CA2679496871 | | | gnomAD v4 |
6 | g.80106584C= | CA1640908539 | | | |
6 | g.80106584C>G | CA1090973717 | | | dbSNP gnomAD v3 gnomAD v4 |
6 | g.80106584C>T | CA2679496872 | | | gnomAD v4 |
6 | g.80106585A>C | CA2679496874 | | | gnomAD v4 |
6 | g.80106585A>G | CA2679496873 | | | gnomAD v4 |
6 | g.80106586T>G | CA2679496875 | | | gnomAD v4 |
6 | g.80106587G= | CA1640908540 | | | |
6 | g.80106587G>T | CA1640908541 | | | dbSNP gnomAD v4 |
6 | g.80106589del | CA2679496876 | | | gnomAD v4 |
6 | g.80106588G>C | CA142276801 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80106588G= | CA1640908543 | | | |
6 | g.80106588G>T | CA2679496877 | | | gnomAD v4 |
6 | g.80106588_80106592delinsGGACC | CA1640908542 | | | |
6 | g.80106589G>A | CA2679496878 | | | gnomAD v4 |
6 | g.80106589G>C | CA2679496879 | | | gnomAD v4 |
6 | g.80106590_80106593del | CA568600904 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80106590A= | CA1640908544 | | | |
6 | g.80106590A>C | CA1640908545 | | | dbSNP gnomAD v4 |
6 | g.80106590A>G | CA2679496880 | | | gnomAD v4 |
6 | g.80106591C>A | CA2679496881 | | | gnomAD v4 |
6 | g.80106592C>A | CA2679496882 | | | gnomAD v4 |
6 | g.80106592C= | CA1640908546 | | | |
6 | g.80106592C>T | CA142276802 | | | dbSNP gnomAD v4 |
6 | g.80106593G>A | CA2679496883 | | | gnomAD v4 |
6 | g.80106593G>T | CA2679496884 | | | gnomAD v4 |
6 | g.80106594C>A | CA2679496887 | | | gnomAD v4 |
6 | g.80106594C>G | CA2679496886 | | | gnomAD v4 |
6 | g.80106597del | CA2679496885 | | | gnomAD v4 |
6 | g.80106595C>A | CA2679496888 | | | gnomAD v4 |
6 | g.80106596C>A | CA2679496889 | | | gnomAD v4 |
6 | g.80106596C>T | CA2679496890 | | | gnomAD v4 |
6 | g.80106597C= | CA1640908547 | | | |
6 | g.80106597C>G | CA142276803 | | | dbSNP gnomAD v3 gnomAD v4 |
6 | g.80106597C>T | CA1090973723 | | | dbSNP gnomAD v3 gnomAD v4 |
6 | g.80106598T>C | CA828530069 | | | dbSNP gnomAD v3 gnomAD v4 |
6 | g.80106598T= | CA1640908548 | | | |
6 | g.80106599del | CA2679496891 | | | gnomAD v4 |
6 | g.80106599C>A | CA2679496892 | | | gnomAD v4 |
6 | g.80106600T>C | CA2679496893 | | | gnomAD v4 |
6 | g.80106600T>G | CA1640908549 | | | dbSNP gnomAD v4 |
6 | g.80106600T= | CA1640908550 | | | |
6 | g.80106601G>A | CA568600905 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80106601G= | CA1640908551 | | | |
6 | g.80106601G>T | CA2578677391 | | | gnomAD v4 |
6 | g.80106602del | CA2578677392 | | | gnomAD v4 |
6 | g.80106602G>A | CA2679496894 | | | gnomAD v4 |
6 | g.80106602G= | CA1640908552 | | | |
6 | g.80106602G>T | CA142276804 | | | dbSNP gnomAD v3 gnomAD v4 |
6 | g.80106603C>A | CA2679496895 | | | gnomAD v4 |
6 | g.80106603C= | CA1640908553 | | | |
6 | g.80106603C>T | CA1640908554 | | | dbSNP gnomAD v4 |
6 | g.80106604C>A | CA2679496896 | | | gnomAD v4 |
6 | g.80106604C= | CA1640908555 | | | |
6 | g.80106604C>T | CA142276805 | | | dbSNP gnomAD v3 gnomAD v4 |
6 | g.80106605C>A | CA2679496897 | | | gnomAD v4 |
6 | g.80106605C>G | CA2771864796 | | | |
6 | g.80106605C>T | CA2679496898 | | | gnomAD v4 |
6 | g.80106606G>A | CA2679496899 | | | gnomAD v4 |
6 | g.80106606G>T | CA2679496900 | | | gnomAD v4 |
6 | g.80106607A= | CA1640908556 | | | |
6 | g.80106607A>G | CA1640908557 | | | dbSNP |
6 | g.80106608C>A | CA2679496901 | | | gnomAD v4 |
6 | g.80106608C>G | CA2679496902 | | | gnomAD v4 |
6 | g.80106609C>A | CA2679496903 | | | gnomAD v4 |
6 | g.80106609C>T | CA2679496904 | | | gnomAD v4 |
6 | g.80106611A= | CA1640908558 | BCKDHB | c.-83A= (n.-83A=) c.-87A= (n.-87A=) n.2A=
| |
6 | g.80106611A>C | CA2566971950 | BCKDHB | c.-83A>C (n.-83A>C) c.-87A>C (n.-87A>C) n.2A>C
| |
6 | g.80106611A>G | CA1090973730 | BCKDHB | c.-83A>G (n.-83A>G) c.-87A>G (n.-87A>G) n.2A>G
| dbSNP gnomAD v3 gnomAD v4 |