Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.116748341T>A | CA2616107634 | BUD13 | c.*141A>T (n.*141A>T) c.776A>T | gnomAD v4 |
11 | g.116748341T>C | CA2616107635 | BUD13 | c.*141A>G (n.*141A>G) c.776A>G | gnomAD v4 |
11 | g.116748342C>A | CA2616107636 | BUD13 | c.*140G>T (n.*140G>T) c.775G>T | gnomAD v4 |
11 | g.116748343T>G | CA2616107637 | BUD13 | c.*139A>C (n.*139A>C) c.774A>C | gnomAD v4 |
11 | g.116748345C>A | CA2616107638 | BUD13 | c.*137G>T (n.*137G>T) c.772G>T | gnomAD v4 |
11 | g.116748345C>T | CA2616107639 | BUD13 | c.*137G>A (n.*137G>A) c.772G>A | gnomAD v4 |
11 | g.116748346T>A | CA2793763193 | BUD13 | c.*136A>T (n.*136A>T) c.771A>T | |
11 | g.116748346T>C | CA229293808 | BUD13 | c.*136A>G (n.*136A>G) c.771A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116748346T= | CA2002705673 | BUD13 | c.*136A= (n.*136A=) c.771A= | |
11 | g.116748347G>A | CA229293816 | BUD13 | c.*135C>T (n.*135C>T) c.770C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116748347G= | CA2002705677 | BUD13 | c.*135C= (n.*135C=) c.770C= | |
11 | g.116748347G>T | CA2616107640 | BUD13 | c.*135C>A (n.*135C>A) c.770C>A | gnomAD v4 |
11 | g.116748348T>A | CA2616107641 | BUD13 | c.*134A>T (n.*134A>T) c.769A>T | gnomAD v4 |
11 | g.116748349G>A | CA2616107643 | BUD13 | c.*133C>T (n.*133C>T) c.768C>T | gnomAD v4 |
11 | g.116748349G>T | CA2616107644 | BUD13 | c.*133C>A (n.*133C>A) c.768C>A | gnomAD v4 |
11 | g.116748350del | CA2616107642 | BUD13 | c.*133del (n.*133del) c.768del | gnomAD v4 |
11 | g.116748350G>A | CA229293824 | BUD13 | c.*132C>T (n.*132C>T) c.767C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116748350G= | CA2002705680 | BUD13 | c.*132C= (n.*132C=) c.767C= | |
11 | g.116748350G>T | CA2616107645 | BUD13 | c.*132C>A (n.*132C>A) c.767C>A | gnomAD v4 |
11 | g.116748351T>C | CA2616107647 | BUD13 | c.*131A>G (n.*131A>G) c.766A>G | gnomAD v4 |
11 | g.116748351T>G | CA2616107646 | BUD13 | c.*131A>C (n.*131A>C) c.766A>C | gnomAD v4 |
11 | g.116748352C>A | CA2616107648 | BUD13 | c.*130G>T (n.*130G>T) c.765G>T | gnomAD v4 |
11 | g.116748352C>T | CA2616107649 | BUD13 | c.*130G>A (n.*130G>A) c.765G>A | gnomAD v4 |
11 | g.116748353A= | CA2002705685 | BUD13 | c.*129T= (n.*129T=) c.764T= | |
11 | g.116748353A>G | CA2002705689 | BUD13 | c.*129T>C (n.*129T>C) c.764T>C | dbSNP |
11 | g.116748354A>G | CA2616107650 | BUD13 | c.*128T>C (n.*128T>C) c.763T>C | gnomAD v4 |
11 | g.116748357C>A | CA2580600865 | BUD13 | c.*125G>T (n.*125G>T) c.760G>T | |
11 | g.116748357C= | CA2002705692 | BUD13 | c.*125G= (n.*125G=) c.760G= | |
11 | g.116748357C>G | CA13398302 | BUD13 | c.*125G>C (n.*125G>C) c.760G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116748357C>T | CA672225374 | BUD13 | c.*125G>A (n.*125G>A) c.760G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116748358T>C | CA2616107651 | BUD13 | c.*124A>G (n.*124A>G) c.759A>G | gnomAD v4 |
11 | g.116748359G>A | CA672225376 | BUD13 | c.*123C>T (n.*123C>T) c.758C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116748359G= | CA2002705716 | BUD13 | c.*123C= (n.*123C=) c.758C= | |
11 | g.116748359G>T | CA2616107652 | BUD13 | c.*123C>A (n.*123C>A) c.758C>A | gnomAD v4 |
11 | g.116748360G>A | CA2616107653 | BUD13 | c.*122C>T (n.*122C>T) c.757C>T | gnomAD v4 |
11 | g.116748360G= | CA2002705719 | BUD13 | c.*122C= (n.*122C=) c.757C= | |
11 | g.116748360G>T | CA672225377 | BUD13 | c.*122C>A (n.*122C>A) c.757C>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116748361C>A | CA2616107654 | BUD13 | c.*121G>T (n.*121G>T) c.756G>T | gnomAD v4 |
11 | g.116748361C>T | CA2616107655 | BUD13 | c.*121G>A (n.*121G>A) c.756G>A | gnomAD v4 |
11 | g.116748362A>G | CA2616107656 | BUD13 | c.*120T>C (n.*120T>C) c.755T>C | gnomAD v4 |
11 | g.116748364T>C | CA672225378 | BUD13 | c.*118A>G (n.*118A>G) c.753A>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116748364T= | CA2002705720 | BUD13 | c.*118A= (n.*118A=) c.753A= | |
11 | g.116748365C>T | CA2616107657 | BUD13 | c.*117G>A (n.*117G>A) c.752G>A | gnomAD v4 |
11 | g.116748366A>C | CA2616107659 | BUD13 | c.*116T>G (n.*116T>G) c.751T>G | gnomAD v4 |
11 | g.116748366A>G | CA2616107658 | BUD13 | c.*116T>C (n.*116T>C) c.751T>C | gnomAD v4 |
11 | g.116748367A>G | CA2616107660 | BUD13 | c.*115T>C (n.*115T>C) c.750T>C | gnomAD v4 |
11 | g.116748368C>A | CA2616107661 | BUD13 | c.*114G>T (n.*114G>T) c.749G>T | gnomAD v4 |
11 | g.116748371G>A | CA2616107662 | BUD13 | c.*111C>T (n.*111C>T) c.746C>T | gnomAD v4 |
11 | g.116748371G>T | CA2616107663 | BUD13 | c.*111C>A (n.*111C>A) c.746C>A | gnomAD v4 |
11 | g.116748374G>T | CA2616107664 | BUD13 | c.*108C>A (n.*108C>A) c.743C>A | gnomAD v4 |
11 | g.116748375C>A | CA2616107665 | BUD13 | c.*107G>T (n.*107G>T) c.742G>T | gnomAD v4 |
11 | g.116748376T>G | CA2616107666 | BUD13 | c.*106A>C (n.*106A>C) c.741A>C | gnomAD v4 |
11 | g.116748377G>T | CA2616107668 | BUD13 | c.*105C>A (n.*105C>A) c.740C>A | gnomAD v4 |
11 | g.116748378del | CA2616107667 | BUD13 | c.*105del (n.*105del) c.740del | gnomAD v4 |
11 | g.116748378G>T | CA2616107669 | BUD13 | c.*104C>A (n.*104C>A) c.739C>A | gnomAD v4 |
11 | g.116748379T>G | CA2603101321 | BUD13 | c.*103A>C (n.*103A>C) c.738A>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116748380C>A | CA2616107670 | BUD13 | c.*102G>T (n.*102G>T) c.737G>T | gnomAD v4 |
11 | g.116748380C>T | CA2725025341 | BUD13 | c.*102G>A (n.*102G>A) c.737G>A | dbSNP |
11 | g.116748382G>A | CA672225380 | BUD13 | c.*100C>T (n.*100C>T) c.735C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116748382G= | CA2002705723 | BUD13 | c.*100C= (n.*100C=) c.735C= | |
11 | g.116748382G>T | CA2616107671 | BUD13 | c.*100C>A (n.*100C>A) c.735C>A | gnomAD v4 |
11 | g.116748383T>C | CA2616107672 | BUD13 | c.*99A>G (n.*99A>G) c.734A>G | gnomAD v4 |
11 | g.116748384G>A | CA2002705729 | BUD13 | c.*98C>T (n.*98C>T) c.733C>T | dbSNP |
11 | g.116748384G= | CA2002705726 | BUD13 | c.*98C= (n.*98C=) c.733C= | |
11 | g.116748384G>T | CA2574985813 | BUD13 | c.*98C>A (n.*98C>A) c.733C>A | |
11 | g.116748385del | CA2616107673 | BUD13 | c.*97del (n.*97del) c.732del | gnomAD v4 |
11 | g.116748385T>C | CA672225383 | BUD13 | c.*97A>G (n.*97A>G) c.732A>G | dbSNP gnomAD v4 |
11 | g.116748385T= | CA2002705731 | BUD13 | c.*97A= (n.*97A=) c.732A= | |
11 | g.116748386G>T | CA2574985814 | BUD13 | c.*96C>A (n.*96C>A) c.731C>A | gnomAD v4 |
11 | g.116748388del | CA2616107674 | BUD13 | c.*96del (n.*96del) c.731del | gnomAD v4 |
11 | g.116748387G>A | CA2616107675 | BUD13 | c.*95C>T (n.*95C>T) c.730C>T | gnomAD v4 |
11 | g.116748387G>T | CA2574985815 | BUD13 | c.*95C>A (n.*95C>A) c.730C>A | gnomAD v4 |
11 | g.116748388G>A | CA2616107676 | BUD13 | c.*94C>T (n.*94C>T) c.729C>T | gnomAD v4 |
11 | g.116748388G>T | CA2574985816 | BUD13 | c.*94C>A (n.*94C>A) c.729C>A | gnomAD v4 |
11 | g.116748389C>A | CA2616107677 | BUD13 | c.*93G>T (n.*93G>T) c.728G>T | gnomAD v4 |
11 | g.116748389C= | CA2002705733 | BUD13 | c.*93G= (n.*93G=) c.728G= | |
11 | g.116748389C>T | CA942594178 | BUD13 | c.*93G>A (n.*93G>A) c.728G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116748390T>C | CA2616107678 | BUD13 | c.*92A>G (n.*92A>G) c.727A>G | gnomAD v4 |
11 | g.116748394A= | CA2002705737 | BUD13 | c.*88T= (n.*88T=) c.723T= | |
11 | g.116748394A>G | CA601817597 | BUD13 | c.*88T>C (n.*88T>C) c.723T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116748395T>C | CA2616107679 | BUD13 | c.*87A>G (n.*87A>G) c.722A>G | dbSNP gnomAD v4 |
11 | g.116748400A>G | CA2524871709 | BUD13 | c.*82T>C (n.*82T>C) c.717T>C | |
11 | g.116748401G>T | CA2574985817 | BUD13 | c.*81C>A (n.*81C>A) c.716C>A | gnomAD v4 |
11 | g.116748402C>G | CA2616107680 | BUD13 | c.*80G>C (n.*80G>C) c.715G>C | gnomAD v4 |
11 | g.116748404C>A | CA2002705747 | BUD13 | c.*78G>T (n.*78G>T) c.713G>T | dbSNP gnomAD v4 |
11 | g.116748404C= | CA2002705744 | BUD13 | c.*78G= (n.*78G=) c.713G= | |
11 | g.116748404C>T | CA229293853 | BUD13 | c.*78G>A (n.*78G>A) c.713G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116748406G>A | CA2616107681 | BUD13 | c.*76C>T (n.*76C>T) c.711C>T | gnomAD v4 |
11 | g.116748407A= | CA2002705756 | BUD13 | c.*75T= (n.*75T=) c.710T= | |
11 | g.116748407A>G | CA672225387 | BUD13 | c.*75T>C (n.*75T>C) c.710T>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116748408C>A | CA2616107682 | BUD13 | c.*74G>T (n.*74G>T) c.709G>T | gnomAD v4 |
11 | g.116748410A>G | CA2616107683 | BUD13 | c.*72T>C (n.*72T>C) c.707T>C | gnomAD v4 |
11 | g.116748411del | CA2616107684 | BUD13 | c.*71del (n.*71del) c.706del | gnomAD v4 |
11 | g.116748413G>T | CA2616107685 | BUD13 | c.*69C>A (n.*69C>A) c.704C>A | gnomAD v4 |
11 | g.116748413_116748464dup | CA2793763194 | BUD13 | c.*18_*69dup (n.*18_*69dup) c.653_704dup | |
11 | g.116748414T>C | CA229293877 | BUD13 | c.*68A>G (n.*68A>G) c.703A>G | dbSNP |
11 | g.116748414T= | CA2002705760 | BUD13 | c.*68A= (n.*68A=) c.703A= | |
11 | g.116748415T>C | CA2616107686 | BUD13 | c.*67A>G (n.*67A>G) c.702A>G | gnomAD v4 |
11 | g.116748417C>A | CA2616107687 | BUD13 | c.*65G>T (n.*65G>T) c.700G>T | gnomAD v4 |
11 | g.116748417C>T | CA2616107688 | BUD13 | c.*65G>A (n.*65G>A) c.700G>A | gnomAD v4 |
11 | g.116748418del | CA2574985818 | BUD13 | c.*65del (n.*65del) c.700del | |
11 | g.116748418C>T | CA2793763195 | BUD13 | c.*64G>A (n.*64G>A) c.699G>A | |
11 | g.116748419A>C | CA2574985819 | BUD13 | c.*63T>G (n.*63T>G) c.698T>G | gnomAD v4 |
11 | g.116748419A>G | CA2616107689 | BUD13 | c.*63T>C (n.*63T>C) c.698T>C | gnomAD v4 |
11 | g.116748419A>T | CA2574985820 | BUD13 | c.*63T>A (n.*63T>A) c.698T>A | gnomAD v4 |
11 | g.116748421T>G | CA672225392 | BUD13 | c.*61A>C (n.*61A>C) c.696A>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116748421T= | CA2002705766 | BUD13 | c.*61A= (n.*61A=) c.696A= | |
11 | g.116748423G>C | CA2616107691 | BUD13 | c.*59C>G (n.*59C>G) c.694C>G | gnomAD v4 |
11 | g.116748423G>T | CA2616107690 | BUD13 | c.*59C>A (n.*59C>A) c.694C>A | gnomAD v4 |
11 | g.116748424A= | CA2002705768 | BUD13 | c.*58T= (n.*58T=) c.693T= | |
11 | g.116748424A>C | CA2616107692 | BUD13 | c.*58T>G (n.*58T>G) c.693T>G | gnomAD v4 |
11 | g.116748424A>G | CA229293879 | BUD13 | c.*58T>C (n.*58T>C) c.693T>C | dbSNP gnomAD v4 |
11 | g.116748426_116748427dup | CA2552466793 | BUD13 | c.*57_*58dup (n.*57_*58dup) c.692_693dup | |
11 | g.116748427T>C | CA2002705806 | BUD13 | c.*55A>G (n.*55A>G) c.690A>G | dbSNP |
11 | g.116748427T>G | CA601817600 | BUD13 | c.*55A>C (n.*55A>C) c.690A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116748427T= | CA2002705803 | BUD13 | c.*55A= (n.*55A=) c.690A= | |
11 | g.116748430C= | CA2002705810 | BUD13 | c.*52G= (n.*52G=) c.687G= | |
11 | g.116748430C>T | CA229293884 | BUD13 | c.*52G>A (n.*52G>A) c.687G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116748431G>A | CA601817603 | BUD13 | c.*51C>T (n.*51C>T) c.686C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116748431G= | CA2002705818 | BUD13 | c.*51C= (n.*51C=) c.686C= | |
11 | g.116748431G>T | CA2616107693 | BUD13 | c.*51C>A (n.*51C>A) c.686C>A | gnomAD v4 |
11 | g.116748432C>T | CA2574985821 | BUD13 | c.*50G>A (n.*50G>A) c.685G>A | gnomAD v4 |
11 | g.116748434G>A | CA2002705821 | BUD13 | c.*48C>T (n.*48C>T) c.683C>T | dbSNP |
11 | g.116748434G= | CA2002705820 | BUD13 | c.*48C= (n.*48C=) c.683C= | |
11 | g.116748434G>T | CA2616107694 | BUD13 | c.*48C>A (n.*48C>A) c.683C>A | gnomAD v4 |
11 | g.116748435C>G | CA2616107695 | BUD13 | c.*47G>C (n.*47G>C) c.682G>C | gnomAD v4 |
11 | g.116748435C>T | CA2616107696 | BUD13 | c.*47G>A (n.*47G>A) c.682G>A | gnomAD v4 |
11 | g.116748436C>G | CA2616107697 | BUD13 | c.*46G>C (n.*46G>C) c.681G>C | gnomAD v4 |
11 | g.116748438A= | CA2002705823 | BUD13 | c.*44T= (n.*44T=) c.679T= | |
11 | g.116748438A>G | CA6287859 | BUD13 | c.*44T>C (n.*44T>C) c.679T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116748439T>C | CA6287860 | BUD13 | c.*43A>G (n.*43A>G) c.678A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116748439T= | CA2002705825 | BUD13 | c.*43A= (n.*43A=) c.678A= |