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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.8015532_8015732del | CA2808381654 | GUCY2D | c.2944+30_2945-11del (n.2944+30_2945-11del) | |
| 17 | g.8015647G>A | CA287533967 | GUCY2D | c.2945-96G>A (n.2945-96G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8015647G= | CA2246120645 | GUCY2D | c.2945-96G= (n.2945-96G=) | |
| 17 | g.8015648G>A | CA287533976 | GUCY2D | c.2945-95G>A (n.2945-95G>A) | dbSNP gnomAD v4 |
| 17 | g.8015648G>C | CA2635954714 | GUCY2D | c.2945-95G>C (n.2945-95G>C) | gnomAD v4 |
| 17 | g.8015648G= | CA2246120647 | GUCY2D | c.2945-95G= (n.2945-95G=) | |
| 17 | g.8015648G>T | CA2635954713 | GUCY2D | c.2945-95G>T (n.2945-95G>T) | gnomAD v4 |
| 17 | g.8015650G>A | CA2246120652 | GUCY2D | c.2945-93G>A (n.2945-93G>A) | dbSNP gnomAD v4 |
| 17 | g.8015650G= | CA2246120650 | GUCY2D | c.2945-93G= (n.2945-93G=) | |
| 17 | g.8015650G>T | CA2635954718 | GUCY2D | c.2945-93G>T (n.2945-93G>T) | gnomAD v4 |
| 17 | g.8015651G>T | CA2576160509 | GUCY2D | c.2945-92G>T (n.2945-92G>T) | gnomAD v4 |
| 17 | g.8015653G= | CA2246120659 | GUCY2D | c.2945-90G= (n.2945-90G=) | |
| 17 | g.8015653G>T | CA287533979 | GUCY2D | c.2945-90G>T (n.2945-90G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8015654A= | CA2246120662 | GUCY2D | c.2945-89A= (n.2945-89A=) | |
| 17 | g.8015654A>C | CA2246120665 | GUCY2D | c.2945-89A>C (n.2945-89A>C) | dbSNP gnomAD v4 |
| 17 | g.8015654A>G | CA775516421 | GUCY2D | c.2945-89A>G (n.2945-89A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8015655T>A | CA2576160510 | GUCY2D | c.2945-88T>A (n.2945-88T>A) | |
| 17 | g.8015656A= | CA2246120666 | GUCY2D | c.2945-87A= (n.2945-87A=) | |
| 17 | g.8015656A>G | CA981232696 | GUCY2D | c.2945-87A>G (n.2945-87A>G) | dbSNP gnomAD v4 |
| 17 | g.8015657A>T | CA2635954720 | GUCY2D | c.2945-86A>T (n.2945-86A>T) | gnomAD v4 |
| 17 | g.8015658T>C | CA2635954721 | GUCY2D | c.2945-85T>C (n.2945-85T>C) | gnomAD v4 |
| 17 | g.8015659G>T | CA2635954722 | GUCY2D | c.2945-84G>T (n.2945-84G>T) | gnomAD v4 |
| 17 | g.8015660G>A | CA2576160511 | GUCY2D | c.2945-83G>A (n.2945-83G>A) | |
| 17 | g.8015660G>T | CA2635954726 | GUCY2D | c.2945-83G>T (n.2945-83G>T) | gnomAD v4 |
| 17 | g.8015661G>A | CA287533982 | GUCY2D | c.2945-82G>A (n.2945-82G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8015661G>C | CA2246120674 | GUCY2D | c.2945-82G>C (n.2945-82G>C) | dbSNP gnomAD v4 |
| 17 | g.8015661G= | CA2246120669 | GUCY2D | c.2945-82G= (n.2945-82G=) | |
| 17 | g.8015661G>T | CA2576160512 | GUCY2D | c.2945-82G>T (n.2945-82G>T) | gnomAD v4 |
| 17 | g.8015662T>G | CA2576160513 | GUCY2D | c.2945-81T>G (n.2945-81T>G) | |
| 17 | g.8015663G>A | CA981232702 | GUCY2D | c.2945-80G>A (n.2945-80G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8015663G= | CA2246120677 | GUCY2D | c.2945-80G= (n.2945-80G=) | |
| 17 | g.8015663G>T | CA2635954729 | GUCY2D | c.2945-80G>T (n.2945-80G>T) | gnomAD v4 |
| 17 | g.8015664C>A | CA2635954732 | GUCY2D | c.2945-79C>A (n.2945-79C>A) | gnomAD v4 |
| 17 | g.8015664C= | CA2246120681 | GUCY2D | c.2945-79C= (n.2945-79C=) | |
| 17 | g.8015664C>G | CA2590216208 | GUCY2D | c.2945-79C>G (n.2945-79C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8015664C>T | CA497753733 | GUCY2D | c.2945-79C>T (n.2945-79C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8015665G>A | CA287533990 | GUCY2D | c.2945-78G>A (n.2945-78G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8015665G= | CA2246120684 | GUCY2D | c.2945-78G= (n.2945-78G=) | |
| 17 | g.8015665G>T | CA2635954733 | GUCY2D | c.2945-78G>T (n.2945-78G>T) | gnomAD v4 |
| 17 | g.8015666A= | CA2246120687 | GUCY2D | c.2945-77A= (n.2945-77A=) | |
| 17 | g.8015666A>C | CA775516426 | GUCY2D | c.2945-77A>C (n.2945-77A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8015667A>T | CA2635954736 | GUCY2D | c.2945-76A>T (n.2945-76A>T) | gnomAD v4 |
| 17 | g.8015668G>A | CA981232708 | GUCY2D | c.2945-75G>A (n.2945-75G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8015668G= | CA2246120689 | GUCY2D | c.2945-75G= (n.2945-75G=) | |
| 17 | g.8015668G>T | CA2635954741 | GUCY2D | c.2945-75G>T (n.2945-75G>T) | gnomAD v4 |
| 17 | g.8015669A>G | CA2841476689 | GUCY2D | c.2945-74A>G (n.2945-74A>G) | |
| 17 | g.8015670T>C | CA2246120694 | GUCY2D | c.2945-73T>C (n.2945-73T>C) | dbSNP gnomAD v4 |
| 17 | g.8015670T= | CA2246120693 | GUCY2D | c.2945-73T= (n.2945-73T=) | |
| 17 | g.8015670dup | CA2635954744 | GUCY2D | c.2945-73dup (n.2945-73dup) | gnomAD v4 |
| 17 | g.8015671C>A | CA2576160514 | GUCY2D | c.2945-72C>A (n.2945-72C>A) | gnomAD v4 |
| 17 | g.8015671C= | CA2246120697 | GUCY2D | c.2945-72C= (n.2945-72C=) | |
| 17 | g.8015671C>G | CA2246120698 | GUCY2D | c.2945-72C>G (n.2945-72C>G) | dbSNP |
| 17 | g.8015671C>T | CA287533993 | GUCY2D | c.2945-72C>T (n.2945-72C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8015675dup | CA2841476690 | GUCY2D | c.2945-68dup (n.2945-68dup) | |
| 17 | g.8015672C>A | CA287533997 | GUCY2D | c.2945-71C>A (n.2945-71C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8015672C= | CA2246120699 | GUCY2D | c.2945-71C= (n.2945-71C=) | |
| 17 | g.8015673C>A | CA2635954749 | GUCY2D | c.2945-70C>A (n.2945-70C>A) | gnomAD v4 |
| 17 | g.8015674C>A | CA2808381697 | GUCY2D | c.2945-69C>A (n.2945-69C>A) | |
| 17 | g.8015675C>A | CA2576160516 | GUCY2D | c.2945-68C>A (n.2945-68C>A) | gnomAD v4 |
| 17 | g.8015675C= | CA2246120701 | GUCY2D | c.2945-68C= (n.2945-68C=) | |
| 17 | g.8015675C>G | CA981232714 | GUCY2D | c.2945-68C>G (n.2945-68C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8015675C>T | CA2576160515 | GUCY2D | c.2945-68C>T (n.2945-68C>T) | dbSNP gnomAD v4 |
| 17 | g.8015676G>A | CA775516431 | GUCY2D | c.2945-67G>A (n.2945-67G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8015676G= | CA2246120705 | GUCY2D | c.2945-67G= (n.2945-67G=) | |
| 17 | g.8015677A>G | CA2635954757 | GUCY2D | c.2945-66A>G (n.2945-66A>G) | gnomAD v4 |
| 17 | g.8015678G>T | CA2635954758 | GUCY2D | c.2945-65G>T (n.2945-65G>T) | gnomAD v4 |
| 17 | g.8015679G>A | CA775516433 | GUCY2D | c.2945-64G>A (n.2945-64G>A) | dbSNP gnomAD v4 |
| 17 | g.8015679G= | CA2246120709 | GUCY2D | c.2945-64G= (n.2945-64G=) | |
| 17 | g.8015679G>T | CA2635954762 | GUCY2D | c.2945-64G>T (n.2945-64G>T) | gnomAD v4 |
| 17 | g.8015680C>A | CA2576160518 | GUCY2D | c.2945-63C>A (n.2945-63C>A) | gnomAD v4 |
| 17 | g.8015680C>G | CA2635954764 | GUCY2D | c.2945-63C>G (n.2945-63C>G) | gnomAD v4 |
| 17 | g.8015680C>T | CA2576160517 | GUCY2D | c.2945-63C>T (n.2945-63C>T) | |
| 17 | g.8015682del | CA2838958499 | GUCY2D | c.2945-61del (n.2945-61del) | |
| 17 | g.8015681C>A | CA2635954765 | GUCY2D | c.2945-62C>A (n.2945-62C>A) | gnomAD v4 |
| 17 | g.8015682C>G | CA2635954767 | GUCY2D | c.2945-61C>G (n.2945-61C>G) | gnomAD v4 |
| 17 | g.8015684A>T | CA2576160519 | GUCY2D | c.2945-59A>T (n.2945-59A>T) | |
| 17 | g.8015685C>A | CA2635954770 | GUCY2D | c.2945-58C>A (n.2945-58C>A) | gnomAD v4 |
| 17 | g.8015685C= | CA2246120713 | GUCY2D | c.2945-58C= (n.2945-58C=) | |
| 17 | g.8015685C>T | CA775516437 | GUCY2D | c.2945-58C>T (n.2945-58C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8015686C>A | CA2635954774 | GUCY2D | c.2945-57C>A (n.2945-57C>A) | gnomAD v4 |
| 17 | g.8015686C>G | CA2635954776 | GUCY2D | c.2945-57C>G (n.2945-57C>G) | gnomAD v4 |
| 17 | g.8015687T>C | CA2635954780 | GUCY2D | c.2945-56T>C (n.2945-56T>C) | gnomAD v4 |
| 17 | g.8015687T>G | CA2808381700 | GUCY2D | c.2945-56T>G (n.2945-56T>G) | |
| 17 | g.8015688A= | CA2246120717 | GUCY2D | c.2945-55A= (n.2945-55A=) | |
| 17 | g.8015688A>C | CA2841476691 | GUCY2D | c.2945-55A>C (n.2945-55A>C) | |
| 17 | g.8015688A>G | CA624868008 | GUCY2D | c.2945-55A>G (n.2945-55A>G) | dbSNP gnomAD v2 |
| 17 | g.8015688A>T | CA2635954782 | GUCY2D | c.2945-55A>T (n.2945-55A>T) | gnomAD v4 |
| 17 | g.8015689G>A | CA775516450 | GUCY2D | c.2945-54G>A (n.2945-54G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8015689G= | CA2246120722 | GUCY2D | c.2945-54G= (n.2945-54G=) | |
| 17 | g.8015689G>T | CA2635954784 | GUCY2D | c.2945-54G>T (n.2945-54G>T) | gnomAD v4 |
| 17 | g.8015690G>C | CA2635954787 | GUCY2D | c.2945-53G>C (n.2945-53G>C) | gnomAD v4 |
| 17 | g.8015690G>T | CA2635954788 | GUCY2D | c.2945-53G>T (n.2945-53G>T) | gnomAD v4 |
| 17 | g.8015692G>A | CA2576160520 | GUCY2D | c.2945-51G>A (n.2945-51G>A) | gnomAD v4 |
| 17 | g.8015693C>A | CA2635954795 | GUCY2D | c.2945-50C>A (n.2945-50C>A) | gnomAD v4 |
| 17 | g.8015693C>T | CA2576160521 | GUCY2D | c.2945-50C>T (n.2945-50C>T) | gnomAD v4 |
| 17 | g.8015695G>A | CA2635954797 | GUCY2D | c.2945-48G>A (n.2945-48G>A) | gnomAD v4 |
| 17 | g.8015695G>T | CA2635954798 | GUCY2D | c.2945-48G>T (n.2945-48G>T) | gnomAD v4 |
| 17 | g.8015696C>A | CA2635954800 | GUCY2D | c.2945-47C>A (n.2945-47C>A) | gnomAD v4 |
| 17 | g.8015696C= | CA2246120726 | GUCY2D | c.2945-47C= (n.2945-47C=) | |
| 17 | g.8015696C>T | CA624868009 | GUCY2D | c.2945-47C>T (n.2945-47C>T) | dbSNP gnomAD v2 |
| 17 | g.8015698del | CA2635954799 | GUCY2D | c.2945-45del (n.2945-45del) | gnomAD v4 |
| 17 | g.8015697C= | CA2246120728 | GUCY2D | c.2945-46C= (n.2945-46C=) | |
| 17 | g.8015697C>T | CA624868010 | GUCY2D | c.2945-46C>T (n.2945-46C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8015698C>A | CA2635954803 | GUCY2D | c.2945-45C>A (n.2945-45C>A) | gnomAD v4 |
| 17 | g.8015698C= | CA2246120732 | GUCY2D | c.2945-45C= (n.2945-45C=) | |
| 17 | g.8015698C>T | CA624868011 | GUCY2D | c.2945-45C>T (n.2945-45C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8015699_8015700delinsAG | CA2246120734 | GUCY2D | c.2945-44_2945-43delinsAG (n.2945-44_2945-43delinsAG) | |
| 17 | g.8015700G>A | CA2635954805 | GUCY2D | c.2945-43G>A (n.2945-43G>A) | gnomAD v4 |
| 17 | g.8015702del | CA775516463 | GUCY2D | c.2945-41del (n.2945-41del) | dbSNP gnomAD v4 |
| 17 | g.8015701G>A | CA624868012 | GUCY2D | c.2945-42G>A (n.2945-42G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8015701G= | CA2246120740 | GUCY2D | c.2945-42G= (n.2945-42G=) | |
| 17 | g.8015701G>T | CA2635954807 | GUCY2D | c.2945-42G>T (n.2945-42G>T) | dbSNP gnomAD v4 |
| 17 | g.8015702G>A | CA624868014 | GUCY2D | c.2945-41G>A (n.2945-41G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8015702G>C | CA624868013 | GUCY2D | c.2945-41G>C (n.2945-41G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8015702G= | CA2246120746 | GUCY2D | c.2945-41G= (n.2945-41G=) | |
| 17 | g.8015702G>T | CA2635954815 | GUCY2D | c.2945-41G>T (n.2945-41G>T) | gnomAD v4 |
| 17 | g.8015703C>A | CA2576160522 | GUCY2D | c.2945-40C>A (n.2945-40C>A) | gnomAD v4 |
| 17 | g.8015703C>T | CA2635954819 | GUCY2D | c.2945-40C>T (n.2945-40C>T) | gnomAD v4 |
| 17 | g.8015704C>A | CA2635954823 | GUCY2D | c.2945-39C>A (n.2945-39C>A) | gnomAD v4 |
| 17 | g.8015704C= | CA2246120750 | GUCY2D | c.2945-39C= (n.2945-39C=) | |
| 17 | g.8015704C>T | CA624868015 | GUCY2D | c.2945-39C>T (n.2945-39C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8015705G>A | CA287534004 | GUCY2D | c.2945-38G>A (n.2945-38G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8015705G>C | CA2635954826 | GUCY2D | c.2945-38G>C (n.2945-38G>C) | gnomAD v4 |
| 17 | g.8015705G= | CA2246120754 | GUCY2D | c.2945-38G= (n.2945-38G=) | |
| 17 | g.8015706del | CA2838958480 | GUCY2D | c.2945-37del (n.2945-37del) | |
| 17 | g.8015711_8015712insGGCTGCACCTAGGTAGGGCCCTG | CA2635954825 | GUCY2D | c.2945-32_2945-31insGGCTGCACCTAGGTAGGGCCCTG (n.2945-32_2945-31insGGCTGCACCTAGGTAGGGCCCTG) | gnomAD v4 |
| 17 | g.8015706G>A | CA8366267 | GUCY2D | c.2945-37G>A (n.2945-37G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8015706G= | CA2246120760 | GUCY2D | c.2945-37G= (n.2945-37G=) | |
| 17 | g.8015706G>T | CA2635954827 | GUCY2D | c.2945-37G>T (n.2945-37G>T) | gnomAD v4 |
| 17 | g.8015706_8015709del | CA981232726 | GUCY2D | c.2945-37_2945-34del (n.2945-37_2945-34del) | gnomAD v3 gnomAD v4 |
| 17 | g.8015707C>A | CA2576160523 | GUCY2D | c.2945-36C>A (n.2945-36C>A) | gnomAD v4 |
| 17 | g.8015707C>T | CA2635954831 | GUCY2D | c.2945-36C>T (n.2945-36C>T) | gnomAD v4 |
| 17 | g.8015709dup | CA2838958476 | GUCY2D | c.2945-34dup (n.2945-34dup) | |
| 17 | g.8015708C>A | CA624868016 | GUCY2D | c.2945-35C>A (n.2945-35C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8015708C= | CA2246120765 | GUCY2D | c.2945-35C= (n.2945-35C=) | |
| 17 | g.8015708C>T | CA2635954833 | GUCY2D | c.2945-35C>T (n.2945-35C>T) | gnomAD v4 |
| 17 | g.8015709C>A | CA2246120769 | GUCY2D | c.2945-34C>A (n.2945-34C>A) | dbSNP gnomAD v4 |
| 17 | g.8015709C= | CA2246120768 | GUCY2D | c.2945-34C= (n.2945-34C=) | |
| 17 | g.8015710T>A | CA2635954836 | GUCY2D | c.2945-33T>A (n.2945-33T>A) | gnomAD v4 |
| 17 | g.8015710_8015711insTTTTTAAT | CA981232728 | GUCY2D | c.2945-33_2945-32insTTTTTAAT (n.2945-33_2945-32insTTTTTAAT) | gnomAD v3 gnomAD v4 |
| 17 | g.8015710_8015711insTTTTTATT | CA2808381708 | GUCY2D | c.2945-33_2945-32insTTTTTATT (n.2945-33_2945-32insTTTTTATT) | |
| 17 | g.8015711G>A | CA2576160524 | GUCY2D | c.2945-32G>A (n.2945-32G>A) | gnomAD v4 |
| 17 | g.8015711G>T | CA2635954837 | GUCY2D | c.2945-32G>T (n.2945-32G>T) | gnomAD v4 |
| 17 | g.8015712C>A | CA981232730 | GUCY2D | c.2945-31C>A (n.2945-31C>A) | gnomAD v3 gnomAD v4 |
| 17 | g.8015712C>T | CA2635954841 | GUCY2D | c.2945-31C>T (n.2945-31C>T) | gnomAD v4 |
| 17 | g.8015713T>C | CA8366268 | GUCY2D | c.2945-30T>C (n.2945-30T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8015713T= | CA2246120771 | GUCY2D | c.2945-30T= (n.2945-30T=) | |
| 17 | g.8015714A= | CA2246120775 | GUCY2D | c.2945-29A= (n.2945-29A=) | |
| 17 | g.8015714A>G | CA8366269 | GUCY2D | c.2945-29A>G (n.2945-29A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.8015715del | CA2635954842 | GUCY2D | c.2945-28del (n.2945-28del) | gnomAD v4 |
| 17 | g.8015715G>A | CA2635954843 | GUCY2D | c.2945-28G>A (n.2945-28G>A) | gnomAD v4 |
| 17 | g.8015715G>T | CA2635954844 | GUCY2D | c.2945-28G>T (n.2945-28G>T) | gnomAD v4 |
| 17 | g.8015715_8015718del | CA981232736 | GUCY2D | c.2945-28_2945-25del (n.2945-28_2945-25del) | gnomAD v3 gnomAD v4 |
| 17 | g.8015716C>A | CA2635954847 | GUCY2D | c.2945-27C>A (n.2945-27C>A) | gnomAD v4 |
| 17 | g.8015716C= | CA2246120779 | GUCY2D | c.2945-27C= (n.2945-27C=) | |
| 17 | g.8015716C>G | CA624868017 | GUCY2D | c.2945-27C>G (n.2945-27C>G) | dbSNP gnomAD v2 |
| 17 | g.8015716C>T | CA2576160525 | GUCY2D | c.2945-27C>T (n.2945-27C>T) | |
| 17 | g.8015717C>A | CA2635954848 | GUCY2D | c.2945-26C>A (n.2945-26C>A) | gnomAD v4 |
| 17 | g.8015717C= | CA2246120780 | GUCY2D | c.2945-26C= (n.2945-26C=) | |
| 17 | g.8015717C>G | CA2635954849 | GUCY2D | c.2945-26C>G (n.2945-26C>G) | gnomAD v4 |
| 17 | g.8015717C>T | CA624868018 | GUCY2D | c.2945-26C>T (n.2945-26C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8015718C>A | CA2635954850 | GUCY2D | c.2945-25C>A (n.2945-25C>A) | gnomAD v4 |
| 17 | g.8015718C>T | CA2635954852 | GUCY2D | c.2945-25C>T (n.2945-25C>T) | gnomAD v4 |
| 17 | g.8015719C>A | CA2635954853 | GUCY2D | c.2945-24C>A (n.2945-24C>A) | gnomAD v4 |
| 17 | g.8015719C= | CA2246120783 | GUCY2D | c.2945-24C= (n.2945-24C=) | |
| 17 | g.8015719C>T | CA8366270 | GUCY2D | c.2945-24C>T (n.2945-24C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.8015720G>A | CA624868019 | GUCY2D | c.2945-23G>A (n.2945-23G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8015720G= | CA2246120784 | GUCY2D | c.2945-23G= (n.2945-23G=) | |
| 17 | g.8015720G>T | CA2635954859 | GUCY2D | c.2945-23G>T (n.2945-23G>T) | gnomAD v4 |
| 17 | g.8015721C>A | CA2635954862 | GUCY2D | c.2945-22C>A (n.2945-22C>A) | gnomAD v4 |
| 17 | g.8015721C= | CA2246120785 | GUCY2D | c.2945-22C= (n.2945-22C=) | |
| 17 | g.8015721C>G | CA981232738 | GUCY2D | c.2945-22C>G (n.2945-22C>G) | gnomAD v3 gnomAD v4 |
| 17 | g.8015721C>T | CA2246120786 | GUCY2D | c.2945-22C>T (n.2945-22C>T) | dbSNP |
| 17 | g.8015722C>A | CA2635954864 | GUCY2D | c.2945-21C>A (n.2945-21C>A) | gnomAD v4 |
| 17 | g.8015722C= | CA2246120788 | GUCY2D | c.2945-21C= (n.2945-21C=) | |
| 17 | g.8015722C>G | CA624868020 | GUCY2D | c.2945-21C>G (n.2945-21C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8015722C>T | CA624868021 | GUCY2D | c.2945-21C>T (n.2945-21C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8015723G>A | CA8366271 | GUCY2D | c.2945-20G>A (n.2945-20G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8015723G= | CA2246120794 | GUCY2D | c.2945-20G= (n.2945-20G=) | |
| 17 | g.8015723G>T | CA2635954871 | GUCY2D | c.2945-20G>T (n.2945-20G>T) | gnomAD v4 |
| 17 | g.8015724A>T | CA2635954874 | GUCY2D | c.2945-19A>T (n.2945-19A>T) | gnomAD v4 |
| 17 | g.8015725C>A | CA287534028 | GUCY2D | c.2945-18C>A (n.2945-18C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8015725C= | CA2246120799 | GUCY2D | c.2945-18C= (n.2945-18C=) | |
| 17 | g.8015725C>G | CA287534036 | GUCY2D | c.2945-18C>G (n.2945-18C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8015729del | CA2635954877 | GUCY2D | c.2945-14del (n.2945-14del) | dbSNP gnomAD v4 |
| 17 | g.8015726C>A | CA2635954883 | GUCY2D | c.2945-17C>A (n.2945-17C>A) | gnomAD v4 |
| 17 | g.8015726_8015727insA | CA981232746 | GUCY2D | c.2945-17_2945-16insA (n.2945-17_2945-16insA) | gnomAD v3 gnomAD v4 |
| 17 | g.8015727C>A | CA2580095251 | GUCY2D | c.2945-16C>A (n.2945-16C>A) | ClinVar gnomAD v4 |
| 17 | g.8015727C>T | CA2635954886 | GUCY2D | c.2945-16C>T (n.2945-16C>T) | gnomAD v4 |
| 17 | g.8015728C>A | CA2635954888 | GUCY2D | c.2945-15C>A (n.2945-15C>A) | gnomAD v4 |
| 17 | g.8015728C= | CA2246120801 | GUCY2D | c.2945-15C= (n.2945-15C=) | |
| 17 | g.8015728C>G | CA2576160526 | GUCY2D | c.2945-15C>G (n.2945-15C>G) | gnomAD v4 |
| 17 | g.8015728C>T | CA2246120802 | GUCY2D | c.2945-15C>T (n.2945-15C>T) | ClinVar dbSNP gnomAD v4 |
| 17 | g.8015729C>A | CA2635954896 | GUCY2D | c.2945-14C>A (n.2945-14C>A) | gnomAD v4 |
| 17 | g.8015729C= | CA2246120806 | GUCY2D | c.2945-14C= (n.2945-14C=) | |
| 17 | g.8015729C>G | CA981232748 | GUCY2D | c.2945-14C>G (n.2945-14C>G) | gnomAD v3 gnomAD v4 |
| 17 | g.8015729C>T | CA8366272 | GUCY2D | c.2945-14C>T (n.2945-14C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8015732_8015742dup | CA2695224307 | GUCY2D | c.2945-11_2945-1dup (n.2945-11_2945-1dup) | |
| 17 | g.8015730A>T | CA2576160527 | GUCY2D | c.2945-13A>T (n.2945-13A>T) | |
| 17 | g.8015731G>A | CA624868022 | GUCY2D | c.2945-12G>A (n.2945-12G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8015731G= | CA2246120809 | GUCY2D | c.2945-12G= (n.2945-12G=) | |
| 17 | g.8015732del | CA981232753 | GUCY2D | c.2945-11del (n.2945-11del) | gnomAD v3 gnomAD v4 |
| 17 | g.8015732C>A | CA624868023 | GUCY2D | c.2945-11C>A (n.2945-11C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8015732C= | CA2246120812 | GUCY2D | c.2945-11C= (n.2945-11C=) | |
| 17 | g.8015733A>G | CA2635954905 | GUCY2D | c.2945-10A>G (n.2945-10A>G) | dbSNP gnomAD v4 |
| 17 | g.8015733_8015735delinsATC | CA2246120818 | GUCY2D | c.2945-10_2945-8delinsATC (n.2945-10_2945-8delinsATC) | |
| 17 | g.8015736_8015737del | CA8366273 | GUCY2D | c.2945-7_2945-6del (n.2945-7_2945-6del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8015735C>A | CA2635954908 | GUCY2D | c.2945-8C>A (n.2945-8C>A) | gnomAD v4 |
| 17 | g.8015737C>A | CA981232757 | GUCY2D | c.2945-6C>A (n.2945-6C>A) | gnomAD v3 gnomAD v4 |
| 17 | g.8015738C>A | CA2635954911 | GUCY2D | c.2945-5C>A (n.2945-5C>A) | gnomAD v4 |
| 17 | g.8015738C>T | CA2576160528 | GUCY2D | c.2945-5C>T (n.2945-5C>T) | |
| 17 | g.8015740C>A | CA2635954913 | GUCY2D | c.2945-3C>A (n.2945-3C>A) | gnomAD v4 |
| 17 | g.8015741A= | CA2246120829 | GUCY2D | c.2945-2A= (n.2945-2A=) | |
| 17 | g.8015741A>C | CA397955055 | GUCY2D | c.2945-2A>C (n.2945-2A>C) | ClinVar dbSNP |
| 17 | g.8015741A>G | CA397955057 | GUCY2D | c.2945-2A>G (n.2945-2A>G) | gnomAD v4 |
| 17 | g.8015741A>T | CA397955059 | GUCY2D | c.2945-2A>T (n.2945-2A>T) | |
| 17 | g.8015742G>A | CA397955062 | GUCY2D | c.2945-1G>A (n.2945-1G>A) | gnomAD v4 |
| 17 | g.8015742G>C | CA397955063 | GUCY2D | c.2945-1G>C (n.2945-1G>C) | |
| 17 | g.8015742G>T | CA397955065 | GUCY2D | c.2945-1G>T (n.2945-1G>T) | |
| 17 | g.8015743dup | CA2841476692 | GUCY2D | c.2945dup | |
| 17 | g.8015742_8015743insCAT | CA2635954929 | GUCY2D | c.2945-1_2945insCAT (n.2945-1_2945insCAT) | gnomAD v4 |
| 17 | g.8015743G>A | CA397955068 | GUCY2D | c.2945G>A (p.Gly982Asp) | dbSNP gnomAD v2 |
| 17 | g.8015743G>C | CA397955069 | GUCY2D | c.2945G>C (p.Gly982Ala) | gnomAD v4 |
| 17 | g.8015743G= | CA2246120837 | GUCY2D | c.2945G= (p.Gly982=) | |
| 17 | g.8015743G>T | CA397955071 | GUCY2D | c.2945G>T (p.Gly982Val) | gnomAD v4 COSMIC |
| 17 | g.8015744T>A | CA497753807 | GUCY2D | c.2946T>A (p.Gly982=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.8015744T>C | CA497753808 | GUCY2D | c.2946T>C (p.Gly982=) | ClinVar dbSNP gnomAD v2 |
| 17 | g.8015744T>G | CA497753809 | GUCY2D | c.2946T>G (p.Gly982=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8015744T= | CA2246120841 | GUCY2D | c.2946T= (p.Gly982=) | |
| 17 | g.8015745C>A | CA397955073 | GUCY2D | c.2947C>A (p.Pro983Thr) | gnomAD v4 |
| 17 | g.8015745C= | CA2246120844 | GUCY2D | c.2947C= (p.Pro983=) | |
| 17 | g.8015745C>G | CA397955075 | GUCY2D | c.2947C>G (p.Pro983Ala) | |
| 17 | g.8015745C>T | CA397955077 | GUCY2D | c.2947C>T (p.Pro983Ser) | dbSNP gnomAD v2 |
| 17 | g.8015746C>A | CA397955079 | GUCY2D | c.2948C>A (p.Pro983Gln) | gnomAD v4 |
| 17 | g.8015746C>G | CA397955083 | GUCY2D | c.2948C>G (p.Pro983Arg) | |
| 17 | g.8015746C>T | CA397955081 | GUCY2D | c.2948C>T (p.Pro983Leu) | gnomAD v4 |
| 17 | g.8015747A>C | CA497753811 | GUCY2D | c.2949A>C (p.Pro983=) | |
| 17 | g.8015747A>G | CA497753812 | GUCY2D | c.2949A>G (p.Pro983=) | |
| 17 | g.8015747A>T | CA497753814 | GUCY2D | c.2949A>T (p.Pro983=) |