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 |
|---|---|---|---|---|---|
| 4 | g.173594442del | CA2672696613 | gnomAD v4 | ||
| 4 | g.173594442A>C | CA442318464 | |||
| 4 | g.173594442A>G | CA442318465 | |||
| 4 | g.173594442A>T | CA442318466 | |||
| 4 | g.173594443G>A | CA442318467 | |||
| 4 | g.173594443G>C | CA442318468 | |||
| 4 | g.173594443G>T | CA442318469 | |||
| 4 | g.173594444G>A | CA442318472 | |||
| 4 | g.173594444G>C | CA442318471 | |||
| 4 | g.173594444G>T | CA442318470 | |||
| 4 | g.173594445A>C | CA442318473 | |||
| 4 | g.173594445A>G | CA442318474 | gnomAD v4 | ||
| 4 | g.173594445A>T | CA442318475 | |||
| 4 | g.173594446T>A | CA442318476 | |||
| 4 | g.173594446T>C | CA442318477 | |||
| 4 | g.173594446T>G | CA442318478 | |||
| 4 | g.173594447G>A | CA442318479 | |||
| 4 | g.173594447G>C | CA442318481 | |||
| 4 | g.173594447G>T | CA442318480 | |||
| 4 | g.173594448G>A | CA442318482 | dbSNP | ||
| 4 | g.173594448G>C | CA442318483 | |||
| 4 | g.173594448G= | CA1513878295 | |||
| 4 | g.173594448G>T | CA442318484 | |||
| 4 | g.173594449C>A | CA442318485 | gnomAD v4 | ||
| 4 | g.173594449C>G | CA442318486 | |||
| 4 | g.173594449C>T | CA442318487 | |||
| 4 | g.173594450T>A | CA442318488 | |||
| 4 | g.173594450T>C | CA442318489 | gnomAD v4 | ||
| 4 | g.173594450T>G | CA442318490 | |||
| 4 | g.173594451A>C | CA442318491 | |||
| 4 | g.173594451A>G | CA442318492 | |||
| 4 | g.173594451A>T | CA442318493 | |||
| 4 | g.173594452C>A | CA442318495 | |||
| 4 | g.173594452C>G | CA442318499 | |||
| 4 | g.173594452C>T | CA442318497 | |||
| 4 | g.173594453T>A | CA442318500 | |||
| 4 | g.173594453T>C | CA442318503 | |||
| 4 | g.173594453T>G | CA442318505 | |||
| 4 | g.173594454T>A | CA442318506 | |||
| 4 | g.173594454T>C | CA442318507 | |||
| 4 | g.173594454T>G | CA442318510 | |||
| 4 | g.173594455A>C | CA442318514 | |||
| 4 | g.173594455A>G | CA442318512 | |||
| 4 | g.173594455A>T | CA442318511 | |||
| 4 | g.173594456G>A | CA442318516 | |||
| 4 | g.173594456G>C | CA442318518 | |||
| 4 | g.173594456G>T | CA442318520 | gnomAD v4 | ||
| 4 | g.173594457T>A | CA442318522 | |||
| 4 | g.173594457T>C | CA442318524 | |||
| 4 | g.173594457T>G | CA442318526 | |||
| 4 | g.173594458T>A | CA442318527 | |||
| 4 | g.173594458T>C | CA442318531 | |||
| 4 | g.173594458T>G | CA442318529 | |||
| 4 | g.173594459C>A | CA442318536 | |||
| 4 | g.173594459C>G | CA442318538 | |||
| 4 | g.173594459C>T | CA442318540 | |||
| 4 | g.173594459_173594467delinsCTTAATTAA | CA1513878296 | |||
| 4 | g.173594460T>A | CA442318542 | |||
| 4 | g.173594460T>C | CA442318544 | |||
| 4 | g.173594460T>G | CA442318545 | |||
| 4 | g.173594462_173594469del | CA791133518 | dbSNP gnomAD v3 gnomAD v4 | ||
| 4 | g.173594461T>A | CA442318548 | gnomAD v4 | ||
| 4 | g.173594461T>C | CA442318549 | |||
| 4 | g.173594461T>G | CA442318551 | |||
| 4 | g.173594462A>C | CA442318554 | |||
| 4 | g.173594462A>G | CA442318556 | |||
| 4 | g.173594462A>T | CA442318557 | |||
| 4 | g.173594463A>C | CA442318560 | |||
| 4 | g.173594463A>G | CA442318564 | |||
| 4 | g.173594463A>T | CA442318562 | |||
| 4 | g.173594464T>A | CA442318565 | |||
| 4 | g.173594464T>C | CA442318566 | |||
| 4 | g.173594464T>G | CA442318568 | |||
| 4 | g.173594465T>A | CA442318570 | |||
| 4 | g.173594465T>C | CA442318571 | |||
| 4 | g.173594465T>G | CA442318573 | |||
| 4 | g.173594466A= | CA1513878297 | |||
| 4 | g.173594466A>C | CA442318575 | |||
| 4 | g.173594466A>G | CA442318577 | |||
| 4 | g.173594466A>T | CA110736831 | dbSNP gnomAD v3 gnomAD v4 | ||
| 4 | g.173594467A>C | CA442318581 | |||
| 4 | g.173594467A>G | CA442318583 | |||
| 4 | g.173594467A>T | CA442318584 | |||
| 4 | g.173594468T>A | CA442318590 | |||
| 4 | g.173594468T>C | CA442318588 | dbSNP gnomAD v3 gnomAD v4 | ||
| 4 | g.173594468T>G | CA442318587 | |||
| 4 | g.173594468T= | CA1513878298 | |||
| 4 | g.173594469T>A | CA442318592 | |||
| 4 | g.173594469T>C | CA442318594 | dbSNP | ||
| 4 | g.173594469T>G | CA442318596 | |||
| 4 | g.173594469T= | CA1513878299 | |||
| 4 | g.173594470T>A | CA442318598 | |||
| 4 | g.173594470T>C | CA442318600 | |||
| 4 | g.173594470T>G | CA442318601 | |||
| 4 | g.173594471G>A | CA442318603 | |||
| 4 | g.173594471G>C | CA442318605 | |||
| 4 | g.173594471G>T | CA442318606 | |||
| 4 | g.173594472T>A | CA442318609 | |||
| 4 | g.173594472T>C | CA110736836 | dbSNP gnomAD v3 gnomAD v4 | ||
| 4 | g.173594472T>G | CA442318611 | |||
| 4 | g.173594472T= | CA1513878300 | |||
| 4 | g.173594473A= | CA1513878301 | |||
| 4 | g.173594473A>C | CA442318613 | dbSNP | ||
| 4 | g.173594473A>G | CA442318616 | |||
| 4 | g.173594473A>T | CA442318615 | |||
| 4 | g.173594474G>A | CA442318618 | |||
| 4 | g.173594474G>C | CA442318622 | |||
| 4 | g.173594474G>T | CA442318620 | |||
| 4 | g.173594475T>A | CA442318624 | dbSNP | ||
| 4 | g.173594475T>C | CA442318627 | |||
| 4 | g.173594475T>G | CA442318625 | |||
| 4 | g.173594475T= | CA1513878302 | |||
| 4 | g.173594476T>A | CA442318629 | |||
| 4 | g.173594476T>C | CA442318631 | dbSNP | ||
| 4 | g.173594476T>G | CA442318632 | |||
| 4 | g.173594476T= | CA1513878303 | |||
| 4 | g.173594477A>C | CA442318635 | |||
| 4 | g.173594477A>G | CA442318637 | gnomAD v4 | ||
| 4 | g.173594477A>T | CA442318638 | |||
| 4 | g.173594478C>A | CA442318641 | |||
| 4 | g.173594478C= | CA1513878304 | |||
| 4 | g.173594478C>G | CA442318643 | dbSNP | ||
| 4 | g.173594478C>T | CA442318644 | |||
| 4 | g.173594479A= | CA1513878305 | |||
| 4 | g.173594479A>C | CA442318646 | |||
| 4 | g.173594479A>G | CA110736844 | dbSNP | ||
| 4 | g.173594479A>T | CA442318649 | |||
| 4 | g.173594480T>A | CA442318651 | |||
| 4 | g.173594480T>C | CA442318654 | |||
| 4 | g.173594480T>G | CA442318652 | |||
| 4 | g.173594481A>C | CA442318656 | |||
| 4 | g.173594481A>G | CA442318658 | |||
| 4 | g.173594481A>T | CA442318661 | |||
| 4 | g.173594482T>A | CA442318664 | |||
| 4 | g.173594482T>C | CA442318665 | |||
| 4 | g.173594482T>G | CA442318667 | |||
| 4 | g.173594483T>A | CA442318668 | |||
| 4 | g.173594483T>C | CA442318669 | |||
| 4 | g.173594483T>G | CA442318671 | |||
| 4 | g.173594484T>A | CA442318677 | |||
| 4 | g.173594484T>C | CA442318675 | |||
| 4 | g.173594484T>G | CA442318673 | |||
| 4 | g.173594485T>A | CA442318679 | |||
| 4 | g.173594485T>C | CA442318680 | |||
| 4 | g.173594485T>G | CA442318682 | |||
| 4 | g.173594486C>A | CA442318683 | |||
| 4 | g.173594486C>G | CA442318684 | |||
| 4 | g.173594486C>T | CA442318686 | |||
| 4 | g.173594487T>A | CA442318688 | |||
| 4 | g.173594487T>C | CA442318690 | |||
| 4 | g.173594487T>G | CA442318691 | |||
| 4 | g.173594488C>A | CA442318692 | |||
| 4 | g.173594488C= | CA1513878306 | |||
| 4 | g.173594488C>G | CA442318693 | |||
| 4 | g.173594488C>T | CA442318694 | dbSNP gnomAD v2 | ||
| 4 | g.173594489G>A | CA110736845 | dbSNP gnomAD v3 gnomAD v4 | ||
| 4 | g.173594489G>C | CA442318696 | dbSNP gnomAD v3 gnomAD v4 | ||
| 4 | g.173594489G= | CA1513878307 | |||
| 4 | g.173594489G>T | CA442318697 | gnomAD v4 | ||
| 4 | g.173594490A>C | CA442318699 | |||
| 4 | g.173594490A>G | CA442318700 | |||
| 4 | g.173594490A>T | CA442318702 | |||
| 4 | g.173594491T>A | CA442318705 | |||
| 4 | g.173594491T>C | CA442318706 | |||
| 4 | g.173594491T>G | CA442318709 | |||
| 4 | g.173594492T>A | CA442318718 | |||
| 4 | g.173594492T>C | CA442318720 | |||
| 4 | g.173594492T>G | CA442318722 | |||
| 4 | g.173594493T>A | CA442318724 | |||
| 4 | g.173594493T>C | CA442318726 | |||
| 4 | g.173594493T>G | CA442318729 | |||
| 4 | g.173594494G>A | CA442318740 | |||
| 4 | g.173594494G>C | CA442318742 | |||
| 4 | g.173594494G>T | CA442318738 | |||
| 4 | g.173594495T>A | CA442318754 | |||
| 4 | g.173594495T>C | CA442318756 | |||
| 4 | g.173594495T>G | CA442318758 | |||
| 4 | g.173594496A>C | CA442318759 | |||
| 4 | g.173594496A>G | CA442318761 | |||
| 4 | g.173594496A>T | CA442318763 | |||
| 4 | g.173594497C>A | CA442318766 | |||
| 4 | g.173594497C>G | CA442318764 | |||
| 4 | g.173594497C>T | CA442318765 | |||
| 4 | g.173594498A= | CA1513878308 | |||
| 4 | g.173594498A>C | CA110736846 | dbSNP gnomAD v3 gnomAD v4 | ||
| 4 | g.173594498A>G | CA442318767 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
| 4 | g.173594498A>T | CA442318768 | |||
| 4 | g.173594499A= | CA1513878309 | |||
| 4 | g.173594499A>C | CA442318769 | |||
| 4 | g.173594499A>G | CA442318770 | dbSNP | ||
| 4 | g.173594499A>T | CA442318771 | |||
| 4 | g.173594500T>A | CA442318772 | |||
| 4 | g.173594500T>C | CA442318775 | |||
| 4 | g.173594500T>G | CA442318773 | |||
| 4 | g.173594501T>A | CA442318776 | |||
| 4 | g.173594501T>C | CA442318778 | |||
| 4 | g.173594501T>G | CA442318780 | |||
| 4 | g.173594502G>A | CA442318782 | |||
| 4 | g.173594502G>C | CA442318783 | |||
| 4 | g.173594502G>T | CA442318785 | gnomAD v4 | ||
| 4 | g.173594503C>A | CA442318786 | |||
| 4 | g.173594503C= | CA1513878310 | |||
| 4 | g.173594503C>G | CA442318788 | |||
| 4 | g.173594503C>T | CA442318790 | dbSNP | ||
| 4 | g.173594504T>A | CA442318792 | |||
| 4 | g.173594504T>C | CA442318794 | |||
| 4 | g.173594504T>G | CA442318796 | |||
| 4 | g.173594505G>A | CA442318807 | |||
| 4 | g.173594505G>C | CA442318810 | |||
| 4 | g.173594505G>T | CA442318809 | |||
| 4 | g.173594506A>C | CA442318812 | |||
| 4 | g.173594506A>G | CA442318814 | |||
| 4 | g.173594506A>T | CA442318816 | |||
| 4 | g.173594507G>A | CA442318818 | |||
| 4 | g.173594507G>C | CA442318820 | |||
| 4 | g.173594507G>T | CA442318823 | |||
| 4 | g.173594508A= | CA1513878311 | |||
| 4 | g.173594508A>C | CA442318825 | dbSNP gnomAD v3 gnomAD v4 | ||
| 4 | g.173594508A>G | CA442318826 | |||
| 4 | g.173594508A>T | CA442318828 | |||
| 4 | g.173594509T>A | CA442318830 | |||
| 4 | g.173594509T>C | CA442318831 | |||
| 4 | g.173594509T>G | CA442318833 | |||
| 4 | g.173594510C>A | CA442318840 | |||
| 4 | g.173594510C>G | CA442318839 | |||
| 4 | g.173594510C>T | CA442318838 | |||
| 4 | g.173594511T>A | CA442318841 | |||
| 4 | g.173594511T>C | CA442318842 | |||
| 4 | g.173594511T>G | CA442318843 | |||
| 4 | g.173594512G>A | CA442318845 | dbSNP gnomAD v3 gnomAD v4 | ||
| 4 | g.173594512G>C | CA110736848 | dbSNP gnomAD v3 gnomAD v4 | ||
| 4 | g.173594512G= | CA1513878312 | |||
| 4 | g.173594512G>T | CA442318848 | |||
| 4 | g.173594513T>A | CA442318850 | |||
| 4 | g.173594513T>C | CA442318852 | |||
| 4 | g.173594513T>G | CA442318854 | |||
| 4 | g.173594514del | CA2672696630 | gnomAD v4 | ||
| 4 | g.173594514T>A | CA442318856 | |||
| 4 | g.173594514T>C | CA442318858 | |||
| 4 | g.173594514T>G | CA442318860 | |||
| 4 | g.173594515A>C | CA442318875 | |||
| 4 | g.173594515A>G | CA442318863 | |||
| 4 | g.173594515A>T | CA442318862 | |||
| 4 | g.173594516C>A | CA442318876 | |||
| 4 | g.173594516C>G | CA442318880 | |||
| 4 | g.173594516C>T | CA442318878 | |||
| 4 | g.173594517A= | CA1513878313 | |||
| 4 | g.173594517A>C | CA442318882 | |||
| 4 | g.173594517A>G | CA442318890 | |||
| 4 | g.173594517A>T | CA110736854 | dbSNP | ||
| 4 | g.173594518T>A | CA442318892 | |||
| 4 | g.173594518T>C | CA442318895 | |||
| 4 | g.173594518T>G | CA442318894 | |||
| 4 | g.173594519T>A | CA442318897 | |||
| 4 | g.173594519T>C | CA442318900 | dbSNP | ||
| 4 | g.173594519T>G | CA442318898 | |||
| 4 | g.173594519T= | CA1513878314 | |||
| 4 | g.173594521_173594526del | CA2672696633 | gnomAD v4 | ||
| 4 | g.173594520A>C | CA442318903 | |||
| 4 | g.173594520A>G | CA442318905 | gnomAD v4 | ||
| 4 | g.173594520A>T | CA442318907 | |||
| 4 | g.173594521T>A | CA442318909 | |||
| 4 | g.173594521T>C | CA442318911 | |||
| 4 | g.173594521T>G | CA442318913 | |||
| 4 | g.173594522T>A | CA442318916 | |||
| 4 | g.173594522T>C | CA442318917 | dbSNP | ||
| 4 | g.173594522T>G | CA442318921 | |||
| 4 | g.173594522T= | CA1513878315 | |||
| 4 | g.173594523T>A | CA442318922 | |||
| 4 | g.173594523T>C | CA442318923 | |||
| 4 | g.173594523T>G | CA442318925 | |||
| 4 | g.173594524G>A | CA442318927 | |||
| 4 | g.173594524G>C | CA442318930 | |||
| 4 | g.173594524G>T | CA442318929 | |||
| 4 | g.173594525T>A | CA442318933 | |||
| 4 | g.173594525T>C | CA442318934 | gnomAD v4 | ||
| 4 | g.173594525T>G | CA442318936 | |||
| 4 | g.173594526A>C | CA442318938 | |||
| 4 | g.173594526A>G | CA442318939 | |||
| 4 | g.173594526A>T | CA442318940 | |||
| 4 | g.173594527A>C | CA442318942 | |||
| 4 | g.173594527A>G | CA442318943 | |||
| 4 | g.173594527A>T | CA442318944 | |||
| 4 | g.173594528A= | CA1513878316 | |||
| 4 | g.173594528A>C | CA442318947 | |||
| 4 | g.173594528A>G | CA442318949 | dbSNP | ||
| 4 | g.173594528A>T | CA442318945 | |||
| 4 | g.173594529T>A | CA442318951 | |||
| 4 | g.173594529T>C | CA442318952 | dbSNP | ||
| 4 | g.173594529T>G | CA442318954 | |||
| 4 | g.173594529T= | CA1513878317 | |||
| 4 | g.173594530A= | CA1513878318 | |||
| 4 | g.173594530A>C | CA442318956 | |||
| 4 | g.173594530A>G | CA442318958 | dbSNP gnomAD v3 gnomAD v4 | ||
| 4 | g.173594530A>T | CA442318959 | |||
| 4 | g.173594532_173594533dup | CA791133546 | dbSNP gnomAD v3 gnomAD v4 | ||
| 4 | g.173594531A= | CA1513878319 | |||
| 4 | g.173594531A>C | CA11668549 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
| 4 | g.173594531A>G | CA442318964 | |||
| 4 | g.173594531A>T | CA442318965 | |||
| 4 | g.173594532A>C | CA442318966 | |||
| 4 | g.173594532A>G | CA442318968 | |||
| 4 | g.173594532A>T | CA442318970 | |||
| 4 | g.173594533A>C | CA442318974 | |||
| 4 | g.173594533A>G | CA442318971 | |||
| 4 | g.173594533A>T | CA442318973 | |||
| 4 | g.173594534C>A | CA442318977 | |||
| 4 | g.173594534C>G | CA442318978 | |||
| 4 | g.173594534C>T | CA442318980 | |||
| 4 | g.173594535T>A | CA442318982 | |||
| 4 | g.173594535T>C | CA442318984 | dbSNP gnomAD v3 gnomAD v4 | ||
| 4 | g.173594535T>G | CA442318985 | |||
| 4 | g.173594535T= | CA1513878320 | |||
| 4 | g.173594536A>C | CA442318987 | |||
| 4 | g.173594536A>G | CA442318989 | |||
| 4 | g.173594536A>T | CA442318990 | |||
| 4 | g.173594537T>A | CA442318992 | |||
| 4 | g.173594537T>C | CA442318994 | |||
| 4 | g.173594537T>G | CA442318996 | |||
| 4 | g.173594538C>A | CA442319000 | |||
| 4 | g.173594538C>G | CA442318999 | |||
| 4 | g.173594538C>T | CA442318998 | |||
| 4 | g.173594539C>A | CA442319003 | |||
| 4 | g.173594539C= | CA1513878321 | |||
| 4 | g.173594539C>G | CA442319006 | |||
| 4 | g.173594539C>T | CA442319004 | dbSNP gnomAD v3 gnomAD v4 | ||
| 4 | g.173594540T>A | CA442319007 | |||
| 4 | g.173594540T>C | CA442319008 | |||
| 4 | g.173594540T>G | CA442319009 | |||
| 4 | g.173594541C>A | CA442319011 | gnomAD v4 | ||
| 4 | g.173594541C= | CA1513878322 | |||
| 4 | g.173594541C>G | CA442319013 | |||
| 4 | g.173594541C>T | CA442319014 | dbSNP | ||
| 4 | g.173594542G>A | CA110736861 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
| 4 | g.173594542G>C | CA442319018 | |||
| 4 | g.173594542G= | CA1513878323 | |||
| 4 | g.173594542G>T | CA442319019 | gnomAD v4 |