Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.124776759G>A | CA245245555 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
12 | g.124776759G= | CA2069463931 | |||
12 | g.124776760T>C | CA2069463937 | dbSNP | ||
12 | g.124776760T= | CA2069463935 | |||
12 | g.124776763G>A | CA2621767632 | gnomAD v4 | ||
12 | g.124776764C>T | CA2621767633 | gnomAD v4 | ||
12 | g.124776765C>A | CA2621767634 | gnomAD v4 | ||
12 | g.124776766A= | CA2069463938 | |||
12 | g.124776766A>T | CA245245561 | dbSNP gnomAD v3 gnomAD v4 | ||
12 | g.124776767C>A | CA245245565 | dbSNP | ||
12 | g.124776767C= | CA2069463941 | |||
12 | g.124776768C>A | CA245245569 | dbSNP gnomAD v4 | ||
12 | g.124776768C= | CA2069463946 | |||
12 | g.124776770C= | CA2069463958 | |||
12 | g.124776770C>T | CA684805158 | dbSNP gnomAD v3 gnomAD v4 | ||
12 | g.124776771G>A | CA245245571 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
12 | g.124776771G= | CA2069463962 | |||
12 | g.124776771G>T | CA2621767635 | gnomAD v4 | ||
12 | g.124776772C>A | CA2621767636 | gnomAD v4 | ||
12 | g.124776774dup | CA608118155 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
12 | g.124776773C>A | CA2621767637 | gnomAD v4 | ||
12 | g.124776774C>A | CA2621767638 | gnomAD v4 | ||
12 | g.124776774C= | CA2069463966 | |||
12 | g.124776774C>T | CA245245572 | dbSNP gnomAD v4 | ||
12 | g.124776775G>A | CA684805162 | dbSNP gnomAD v3 gnomAD v4 | ||
12 | g.124776775G= | CA2069463968 | |||
12 | g.124776776G>A | CA2621767639 | gnomAD v4 | ||
12 | g.124776776G= | CA2069463970 | |||
12 | g.124776776G>T | CA2069463972 | dbSNP | ||
12 | g.124776778C>A | CA2621767640 | gnomAD v4 | ||
12 | g.124776781del | CA2621767641 | gnomAD v4 | ||
12 | g.124776781G>T | CA2621767642 | gnomAD v4 | ||
12 | g.124776785G>T | CA2621767643 | gnomAD v4 | ||
12 | g.124776786T>C | CA608118156 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
12 | g.124776786T= | CA2069463973 | |||
12 | g.124776787A>G | CA2797847059 | |||
12 | g.124776792G>A | CA245245573 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
12 | g.124776792G= | CA2069463976 | |||
12 | g.124776792G>T | CA2621767644 | gnomAD v4 | ||
12 | g.124776793T>G | CA2797847060 | |||
12 | g.124776793_124776806delinsTTATGGCAGCCCCA | CA2069463979 | |||
12 | g.124776794_124776806del | CA952891951 | dbSNP gnomAD v3 gnomAD v4 | ||
12 | g.124776795A>G | CA2621767645 | gnomAD v4 | ||
12 | g.124776796T>C | CA245245575 | dbSNP gnomAD v3 gnomAD v4 | ||
12 | g.124776796T= | CA2069463983 | |||
12 | g.124776797G>T | CA2621767646 | gnomAD v4 | ||
12 | g.124776798G>A | CA2069463987 | dbSNP gnomAD v4 | ||
12 | g.124776798G= | CA2069463986 | |||
12 | g.124776798G>T | CA2621767647 | gnomAD v4 | ||
12 | g.124776799C= | CA2069463989 | |||
12 | g.124776799C>T | CA684805171 | dbSNP gnomAD v4 | ||
12 | g.124776801G>A | CA2621767648 | gnomAD v4 | ||
12 | g.124776801G>T | CA2621767649 | gnomAD v4 | ||
12 | g.124776802C= | CA2069463991 | |||
12 | g.124776802C>G | CA684805174 | dbSNP gnomAD v4 | ||
12 | g.124776802C>T | CA2621767650 | gnomAD v4 | ||
12 | g.124776806A= | CA2069463994 | |||
12 | g.124776806A>C | CA2069463996 | dbSNP | ||
12 | g.124776807G>A | CA2069464000 | dbSNP | ||
12 | g.124776807G= | CA2069464002 | |||
12 | g.124776807G>T | CA2621767651 | gnomAD v4 | ||
12 | g.124776809C= | CA2069464005 | |||
12 | g.124776809C>T | CA952891953 | dbSNP gnomAD v3 gnomAD v4 | ||
12 | g.124776810C>A | CA2621767652 | gnomAD v4 | ||
12 | g.124776810C= | CA2069464006 | |||
12 | g.124776810C>T | CA2069464007 | dbSNP | ||
12 | g.124776811T>C | CA2069464010 | dbSNP gnomAD v4 | ||
12 | g.124776811T= | CA2069464009 | |||
12 | g.124776812A>T | CA2621767654 | gnomAD v4 | ||
12 | g.124776818dup | CA2621767655 | gnomAD v4 | ||
12 | g.124776818del | CA2621767653 | gnomAD v4 | ||
12 | g.124776815A= | CA2069464013 | |||
12 | g.124776815A>C | CA2603669893 | dbSNP gnomAD v3 gnomAD v4 | ||
12 | g.124776815A>G | CA245245580 | dbSNP | ||
12 | g.124776818A>T | CA2621767656 | gnomAD v4 | ||
12 | g.124776821del | CA2621767657 | gnomAD v4 | ||
12 | g.124776820T>C | CA245245583 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
12 | g.124776820T= | CA2069464016 | |||
12 | g.124776822A= | CA2069464020 | |||
12 | g.124776822A>G | CA245245587 | dbSNP gnomAD v3 gnomAD v4 | ||
12 | g.124776823C>A | CA245245597 | dbSNP gnomAD v4 | ||
12 | g.124776823C= | CA2069464021 | |||
12 | g.124776825del | CA2621767658 | gnomAD v4 | ||
12 | g.124776824C>A | CA2621767659 | gnomAD v4 | ||
12 | g.124776825C>A | CA2621767660 | gnomAD v4 | ||
12 | g.124776826T>C | CA952891960 | dbSNP gnomAD v3 gnomAD v4 | ||
12 | g.124776826T>G | CA245245601 | dbSNP | ||
12 | g.124776826T= | CA2069464022 | |||
12 | g.124776831G>A | CA2797847062 | |||
12 | g.124776832del | CA2797847061 | |||
12 | g.124776832G>T | CA2621767661 | gnomAD v4 | ||
12 | g.124776833T>C | CA2621767662 | gnomAD v4 | ||
12 | g.124776834C>A | CA952891975 | gnomAD v3 gnomAD v4 | ||
12 | g.124776834C= | CA2069464024 | |||
12 | g.124776834C>G | CA684805183 | dbSNP | ||
12 | g.124776835A= | CA2069464027 | |||
12 | g.124776835A>C | CA952891976 | dbSNP gnomAD v3 gnomAD v4 | ||
12 | g.124776836C>A | CA608118157 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
12 | g.124776836C= | CA2069464030 | |||
12 | g.124776836_124776839delinsCAAG | CA2069464032 | |||
12 | g.124776839_124776841del | CA684805185 | dbSNP | ||
12 | g.124776838A= | CA2069464034 | |||
12 | g.124776838A>G | CA2069464035 | dbSNP | ||
12 | g.124776839G>A | CA608118158 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
12 | g.124776839G>C | CA2621767663 | gnomAD v4 | ||
12 | g.124776839G= | CA2069464036 | |||
12 | g.124776842dup | CA2069464040 | dbSNP | ||
12 | g.124776841A>G | CA2621767664 | gnomAD v4 | ||
12 | g.124776843del | CA2621767665 | gnomAD v4 | ||
12 | g.124776843T>A | CA608118159 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
12 | g.124776843T= | CA2069464048 | |||
12 | g.124776843_124776848delinsTAAAAA | CA2069464044 | |||
12 | g.124776844A= | CA2069464064 | |||
12 | g.124776844A>C | CA2621767668 | gnomAD v4 | ||
12 | g.124776844A>T | CA952891985 | dbSNP gnomAD v3 gnomAD v4 | ||
12 | g.124776854dup | CA245245613 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
12 | g.124776853_124776854dup | CA684805189 | dbSNP gnomAD v3 gnomAD v4 | ||
12 | g.124776852_124776854dup | CA2621767666 | gnomAD v4 | ||
12 | g.124776854del | CA245245620 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
12 | g.124776853_124776854del | CA2621767667 | gnomAD v4 | ||
12 | g.124776851_124776854del | CA245245626 | dbSNP gnomAD v3 gnomAD v4 | ||
12 | g.124776850_124776854del | CA952891984 | dbSNP gnomAD v3 gnomAD v4 | ||
12 | g.124776844_124776845insT | CA2621767669 | gnomAD v4 | ||
12 | g.124776845A>T | CA2621767670 | gnomAD v4 | ||
12 | g.124776848A= | CA2069464066 | |||
12 | g.124776848A>C | CA952891987 | dbSNP gnomAD v3 gnomAD v4 | ||
12 | g.124776851A= | CA2069464069 | |||
12 | g.124776851A>G | CA608118160 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
12 | g.124776853A>G | CA2797847063 | |||
12 | g.124776854A= | CA2069464076 | |||
12 | g.124776854A>G | CA245245631 | dbSNP | ||
12 | g.124776855del | CA2621767671 | gnomAD v4 | ||
12 | g.124776858T>A | CA952891989 | SCARB1 | c.*1729A>T (n.*1729A>T) c.*1609A>T (n.*1609A>T) c.*1721A>T (n.*1721A>T) c.*1740A>T (n.*1740A>T) n.3404A>T n.3506A>T n.2965A>T n.3329A>T n.3158A>T n.3081A>T n.3287A>T n.3284A>T n.3269A>T | gnomAD v3 gnomAD v4 |
12 | g.124776859G= | CA2069464078 | SCARB1 | c.*1728C= (n.*1728C=) c.*1608C= (n.*1608C=) c.*1720C= (n.*1720C=) c.*1739C= (n.*1739C=) n.3403C= n.3505C= n.2964C= n.3328C= n.3157C= n.3080C= n.3286C= n.3283C= n.3268C= | |
12 | g.124776859G>T | CA2621767672 | SCARB1 | c.*1728C>A (n.*1728C>A) c.*1608C>A (n.*1608C>A) c.*1720C>A (n.*1720C>A) c.*1739C>A (n.*1739C>A) n.3403C>A n.3505C>A n.2964C>A n.3328C>A n.3157C>A n.3080C>A n.3286C>A n.3283C>A n.3268C>A | gnomAD v4 |