17 | g.8015294_8015483del | CA2740095253 | GUCY2D | c.2770-34_2925del
| ClinVar |
17 | g.8015407C>A | CA397954599 | GUCY2D | c.2849C>A (p.Ala950Asp)
| |
17 | g.8015407C= | CA2246119887 | GUCY2D | c.2849C= (p.Ala950=)
| |
17 | g.8015407C>G | CA397954600 | GUCY2D | c.2849C>G (p.Ala950Gly)
| |
17 | g.8015407C>T | CA226101 | GUCY2D | c.2849C>T (p.Ala950Val)
| ClinVar dbSNP gnomAD v4 |
17 | g.8015408del | CA2839840306 | GUCY2D | c.2850del (p.Asn951ThrfsTer27)
| |
17 | g.8015408C>A | CA8366242 | GUCY2D | c.2850C>A (p.Ala950=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8015408C= | CA2246119896 | GUCY2D | c.2850C= (p.Ala950=)
| |
17 | g.8015408C>G | CA497753664 | GUCY2D | c.2850C>G (p.Ala950=)
| |
17 | g.8015408C>T | CA8366241 | GUCY2D | c.2850C>T (p.Ala950=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8015409A>C | CA397954610 | GUCY2D | c.2851A>C (p.Asn951His)
| |
17 | g.8015409A>G | CA397954612 | GUCY2D | c.2851A>G (p.Asn951Asp)
| |
17 | g.8015409A>T | CA397954614 | GUCY2D | c.2851A>T (p.Asn951Tyr)
| |
17 | g.8015410A= | CA2246119902 | GUCY2D | c.2852A= (p.Asn951=)
| |
17 | g.8015410A>C | CA397954617 | GUCY2D | c.2852A>C (p.Asn951Thr)
| |
17 | g.8015410A>G | CA397954619 | GUCY2D | c.2852A>G (p.Asn951Ser)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8015410A>T | CA397954621 | GUCY2D | c.2852A>T (p.Asn951Ile)
| |
17 | g.8015411C>A | CA397954626 | GUCY2D | c.2853C>A (p.Asn951Lys)
| |
17 | g.8015411C>G | CA397954624 | GUCY2D | c.2853C>G (p.Asn951Lys)
| |
17 | g.8015411C>T | CA497753665 | GUCY2D | c.2853C>T (p.Asn951=)
| gnomAD v4 |
17 | g.8015412A>C | CA397954629 | GUCY2D | c.2854A>C (p.Met952Leu)
| |
17 | g.8015412A>G | CA397954633 | GUCY2D | c.2854A>G (p.Met952Val)
| gnomAD v4 |
17 | g.8015412A>T | CA397954631 | GUCY2D | c.2854A>T (p.Met952Leu)
| |
17 | g.8015413del | CA2841476686 | GUCY2D | c.2855del (p.Met952SerfsTer26)
| |
17 | g.8015413T>A | CA397954636 | GUCY2D | c.2855T>A (p.Met952Lys)
| |
17 | g.8015413T>C | CA397954638 | GUCY2D | c.2855T>C (p.Met952Thr)
| gnomAD v4 |
17 | g.8015413T>G | CA397954639 | GUCY2D | c.2855T>G (p.Met952Arg)
| |
17 | g.8015414G>A | CA397954642 | GUCY2D | c.2856G>A (p.Met952Ile)
| gnomAD v4 |
17 | g.8015414G>C | CA397954644 | GUCY2D | c.2856G>C (p.Met952Ile)
| |
17 | g.8015414G>T | CA397954646 | GUCY2D | c.2856G>T (p.Met952Ile)
| |
17 | g.8015415T>A | CA397954648 | GUCY2D | c.2857T>A (p.Ser953Thr)
| |
17 | g.8015415T>C | CA397954650 | GUCY2D | c.2857T>C (p.Ser953Pro)
| |
17 | g.8015415T>G | CA397954653 | GUCY2D | c.2857T>G (p.Ser953Ala)
| |
17 | g.8015416C>A | CA397954655 | GUCY2D | c.2858C>A (p.Ser953Ter)
| |
17 | g.8015416C>G | CA397954658 | GUCY2D | c.2858C>G (p.Ser953Ter)
| |
17 | g.8015416C>T | CA397954660 | GUCY2D | c.2858C>T (p.Ser953Leu)
| |
17 | g.8015417A>C | CA497753666 | GUCY2D | c.2859A>C (p.Ser953=)
| |
17 | g.8015417A>G | CA497753667 | GUCY2D | c.2859A>G (p.Ser953=)
| |
17 | g.8015417A>T | CA497753668 | GUCY2D | c.2859A>T (p.Ser953=)
| ClinVar gnomAD v4 |
17 | g.8015418C>A | CA397954662 | GUCY2D | c.2860C>A (p.Leu954Met)
| |
17 | g.8015418C= | CA2246119910 | GUCY2D | c.2860C= (p.Leu954=)
| |
17 | g.8015418C>G | CA397954661 | GUCY2D | c.2860C>G (p.Leu954Val)
| ClinVar dbSNP |
17 | g.8015418C>T | CA8366243 | GUCY2D | c.2860C>T (p.Leu954=)
| ClinVar dbSNP ExAC gnomAD v4 |
17 | g.8015419T>A | CA397954663 | GUCY2D | c.2861T>A (p.Leu954Gln)
| gnomAD v4 |
17 | g.8015419T>C | CA226103 | GUCY2D | c.2861T>C (p.Leu954Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8015419T>G | CA397954664 | GUCY2D | c.2861T>G (p.Leu954Arg)
| |
17 | g.8015419T= | CA2246119922 | GUCY2D | c.2861T= (p.Leu954=)
| |
17 | g.8015420G>A | CA497753669 | GUCY2D | c.2862G>A (p.Leu954=)
| |
17 | g.8015420G>C | CA497753670 | GUCY2D | c.2862G>C (p.Leu954=)
| |
17 | g.8015420G>T | CA497753671 | GUCY2D | c.2862G>T (p.Leu954=)
| |
17 | g.8015421G>A | CA8366244 | GUCY2D | c.2863G>A (p.Asp955Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8015421G>C | CA397954665 | GUCY2D | c.2863G>C (p.Asp955His)
| |
17 | g.8015421G= | CA2246119927 | GUCY2D | c.2863G= (p.Asp955=)
| |
17 | g.8015421G>T | CA397954666 | GUCY2D | c.2863G>T (p.Asp955Tyr)
| gnomAD v4 |
17 | g.8015422A= | CA2246119930 | GUCY2D | c.2864A= (p.Asp955=)
| |
17 | g.8015422A>C | CA397954667 | GUCY2D | c.2864A>C (p.Asp955Ala)
| |
17 | g.8015422A>G | CA397954668 | GUCY2D | c.2864A>G (p.Asp955Gly)
| dbSNP |
17 | g.8015422A>T | CA397954669 | GUCY2D | c.2864A>T (p.Asp955Val)
| |
17 | g.8015423C>A | CA397954670 | GUCY2D | c.2865C>A (p.Asp955Glu)
| |
17 | g.8015423C= | CA2246119934 | GUCY2D | c.2865C= (p.Asp955=)
| |
17 | g.8015423C>G | CA397954671 | GUCY2D | c.2865C>G (p.Asp955Glu)
| |
17 | g.8015423C>T | CA497753672 | GUCY2D | c.2865C>T (p.Asp955=)
| dbSNP |
17 | g.8015424A= | CA2246119938 | GUCY2D | c.2866A= (p.Ile956=)
| |
17 | g.8015424A>C | CA397954673 | GUCY2D | c.2866A>C (p.Ile956Leu)
| |
17 | g.8015424A>G | CA397954674 | GUCY2D | c.2866A>G (p.Ile956Val)
| |
17 | g.8015424A>T | CA397954672 | GUCY2D | c.2866A>T (p.Ile956Phe)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8015425T>A | CA397954675 | GUCY2D | c.2867T>A (p.Ile956Asn)
| ClinVar |
17 | g.8015425T>C | CA397954676 | GUCY2D | c.2867T>C (p.Ile956Thr)
| |
17 | g.8015425T>G | CA397954677 | GUCY2D | c.2867T>G (p.Ile956Ser)
| gnomAD v4 |
17 | g.8015426C>A | CA497753674 | GUCY2D | c.2868C>A (p.Ile956=)
| |
17 | g.8015426C>G | CA397954678 | GUCY2D | c.2868C>G (p.Ile956Met)
| |
17 | g.8015426C>T | CA497753673 | GUCY2D | c.2868C>T (p.Ile956=)
| gnomAD v4 |
17 | g.8015427C>A | CA397954681 | GUCY2D | c.2869C>A (p.Leu957Ile)
| |
17 | g.8015427C>G | CA397954683 | GUCY2D | c.2869C>G (p.Leu957Val)
| |
17 | g.8015427C>T | CA397954684 | GUCY2D | c.2869C>T (p.Leu957Phe)
| |
17 | g.8015428T>A | CA397954688 | GUCY2D | c.2870T>A (p.Leu957His)
| |
17 | g.8015428T>C | CA397954690 | GUCY2D | c.2870T>C (p.Leu957Pro)
| |
17 | g.8015428T>G | CA397954692 | GUCY2D | c.2870T>G (p.Leu957Arg)
| |
17 | g.8015429del | CA2573154817 | GUCY2D | c.2871del (p.Ser958ValfsTer20)
| ClinVar dbSNP |
17 | g.8015429C>A | CA497753675 | GUCY2D | c.2871C>A (p.Leu957=)
| ClinVar |
17 | g.8015429C>G | CA497753677 | GUCY2D | c.2871C>G (p.Leu957=)
| |
17 | g.8015429C>T | CA497753676 | GUCY2D | c.2871C>T (p.Leu957=)
| gnomAD v4 |
17 | g.8015430A>C | CA397954695 | GUCY2D | c.2872A>C (p.Ser958Arg)
| ClinVar dbSNP gnomAD v4 |
17 | g.8015430A>G | CA397954697 | GUCY2D | c.2872A>G (p.Ser958Gly)
| gnomAD v4 |
17 | g.8015430A>T | CA397954699 | GUCY2D | c.2872A>T (p.Ser958Cys)
| |
17 | g.8015431G>A | CA397954706 | GUCY2D | c.2873G>A (p.Ser958Asn)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8015431G>C | CA397954704 | GUCY2D | c.2873G>C (p.Ser958Thr)
| |
17 | g.8015431G= | CA2246119951 | GUCY2D | c.2873G= (p.Ser958=)
| |
17 | g.8015431G>T | CA397954702 | GUCY2D | c.2873G>T (p.Ser958Ile)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8015432_8015433del | CA2635954076 | GUCY2D | c.2874_2875del (p.Ala959ArgfsTer11)
| gnomAD v4 |
17 | g.8015432T>A | CA397954708 | GUCY2D | c.2874T>A (p.Ser958Arg)
| |
17 | g.8015432T>C | CA497753678 | GUCY2D | c.2874T>C (p.Ser958=)
| |
17 | g.8015432T>G | CA397954711 | GUCY2D | c.2874T>G (p.Ser958Arg)
| |
17 | g.8015433G>A | CA8366245 | GUCY2D | c.2875G>A (p.Ala959Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8015433G>C | CA397954713 | GUCY2D | c.2875G>C (p.Ala959Pro)
| |
17 | g.8015433G= | CA2246119959 | GUCY2D | c.2875G= (p.Ala959=)
| |
17 | g.8015433G>T | CA397954715 | GUCY2D | c.2875G>T (p.Ala959Ser)
| gnomAD v4 |
17 | g.8015434C>A | CA397954718 | GUCY2D | c.2876C>A (p.Ala959Asp)
| dbSNP |
17 | g.8015434C= | CA2246119966 | GUCY2D | c.2876C= (p.Ala959=)
| |
17 | g.8015434C>G | CA397954720 | GUCY2D | c.2876C>G (p.Ala959Gly)
| |
17 | g.8015434C>T | CA397954723 | GUCY2D | c.2876C>T (p.Ala959Val)
| gnomAD v4 |
17 | g.8015435C>A | CA497753679 | GUCY2D | c.2877C>A (p.Ala959=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.8015435C= | CA2246119974 | GUCY2D | c.2877C= (p.Ala959=)
| |
17 | g.8015435C>G | CA497753680 | GUCY2D | c.2877C>G (p.Ala959=)
| |
17 | g.8015435C>T | CA497753681 | GUCY2D | c.2877C>T (p.Ala959=)
| ClinVar dbSNP gnomAD v4 |
17 | g.8015435_8015436del | CA2635954094 | GUCY2D | c.2877_2878del (p.Val960GlyfsTer10)
| gnomAD v4 |
17 | g.8015435_8015439del | CA2635954095 | GUCY2D | c.2877_2881del (p.Val960HisfsTer9)
| gnomAD v4 |
17 | g.8015436G>A | CA8366246 | GUCY2D | c.2878G>A (p.Val960Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.8015436G>C | CA397954726 | GUCY2D | c.2878G>C (p.Val960Leu)
| ClinVar |
17 | g.8015436G= | CA2246119988 | GUCY2D | c.2878G= (p.Val960=)
| |
17 | g.8015436G>T | CA397954729 | GUCY2D | c.2878G>T (p.Val960Leu)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8015437T>A | CA397954731 | GUCY2D | c.2879T>A (p.Val960Glu)
| |
17 | g.8015437T>C | CA397954733 | GUCY2D | c.2879T>C (p.Val960Ala)
| |
17 | g.8015437T>G | CA397954735 | GUCY2D | c.2879T>G (p.Val960Gly)
| |
17 | g.8015438G>A | CA497753682 | GUCY2D | c.2880G>A (p.Val960=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8015438G>C | CA497753683 | GUCY2D | c.2880G>C (p.Val960=)
| |
17 | g.8015438G= | CA2246119994 | GUCY2D | c.2880G= (p.Val960=)
| |
17 | g.8015438G>T | CA497753684 | GUCY2D | c.2880G>T (p.Val960=)
| |
17 | g.8015439G>A | CA397954739 | GUCY2D | c.2881G>A (p.Gly961Ser)
| |
17 | g.8015439G>C | CA397954741 | GUCY2D | c.2881G>C (p.Gly961Arg)
| ClinVar dbSNP |
17 | g.8015439G>T | CA397954737 | GUCY2D | c.2881G>T (p.Gly961Cys)
| gnomAD v4 |
17 | g.8015440G>A | CA397954744 | GUCY2D | c.2882G>A (p.Gly961Asp)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8015440G>C | CA397954748 | GUCY2D | c.2882G>C (p.Gly961Ala)
| |
17 | g.8015440G= | CA2246119999 | GUCY2D | c.2882G= (p.Gly961=)
| |
17 | g.8015440G>T | CA397954745 | GUCY2D | c.2882G>T (p.Gly961Val)
| ClinVar |
17 | g.8015441C>A | CA497753685 | GUCY2D | c.2883C>A (p.Gly961=)
| |
17 | g.8015441C= | CA2246120004 | GUCY2D | c.2883C= (p.Gly961=)
| |
17 | g.8015441C>G | CA497753686 | GUCY2D | c.2883C>G (p.Gly961=)
| |
17 | g.8015441C>T | CA8366247 | GUCY2D | c.2883C>T (p.Gly961=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8015442A>C | CA397954751 | GUCY2D | c.2884A>C (p.Thr962Pro)
| |
17 | g.8015442A>G | CA397954753 | GUCY2D | c.2884A>G (p.Thr962Ala)
| |
17 | g.8015442A>T | CA397954755 | GUCY2D | c.2884A>T (p.Thr962Ser)
| |
17 | g.8015442_8015443delinsAC | CA2246120006 | GUCY2D | c.2884_2885delinsAC (p.Thr962=)
| |
17 | g.8015443del | CA287533747 | GUCY2D | c.2885del (p.Thr962IlefsTer16)
| dbSNP |
17 | g.8015443C>A | CA397954759 | GUCY2D | c.2885C>A (p.Thr962Asn)
| |
17 | g.8015443C>G | CA397954761 | GUCY2D | c.2885C>G (p.Thr962Ser)
| gnomAD v4 |
17 | g.8015443C>T | CA397954763 | GUCY2D | c.2885C>T (p.Thr962Ile)
| |
17 | g.8015444T>A | CA497753688 | GUCY2D | c.2886T>A (p.Thr962=)
| |
17 | g.8015444T>C | CA497753689 | GUCY2D | c.2886T>C (p.Thr962=)
| |
17 | g.8015444T>G | CA497753687 | GUCY2D | c.2886T>G (p.Thr962=)
| |
17 | g.8015445T>A | CA397954765 | GUCY2D | c.2887T>A (p.Phe963Ile)
| |
17 | g.8015445T>C | CA397954770 | GUCY2D | c.2887T>C (p.Phe963Leu)
| |
17 | g.8015445T>G | CA397954767 | GUCY2D | c.2887T>G (p.Phe963Val)
| |
17 | g.8015446T>A | CA397954772 | GUCY2D | c.2888T>A (p.Phe963Tyr)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8015446T>C | CA287533750 | GUCY2D | c.2888T>C (p.Phe963Ser)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8015446T>G | CA397954776 | GUCY2D | c.2888T>G (p.Phe963Cys)
| |
17 | g.8015446T= | CA2246120016 | GUCY2D | c.2888T= (p.Phe963=)
| |
17 | g.8015447C>A | CA397954779 | GUCY2D | c.2889C>A (p.Phe963Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8015447C= | CA2246120045 | GUCY2D | c.2889C= (p.Phe963=)
| |
17 | g.8015447C>G | CA397954781 | GUCY2D | c.2889C>G (p.Phe963Leu)
| |
17 | g.8015447C>T | CA497753690 | GUCY2D | c.2889C>T (p.Phe963=)
| |
17 | g.8015448C>A | CA397954784 | GUCY2D | c.2890C>A (p.Arg964Ser)
| |
17 | g.8015448C= | CA2246120056 | GUCY2D | c.2890C= (p.Arg964=)
| |
17 | g.8015448C>G | CA397954787 | GUCY2D | c.2890C>G (p.Arg964Gly)
| |
17 | g.8015448C>T | CA287533751 | GUCY2D | c.2890C>T (p.Arg964Cys)
| dbSNP gnomAD v4 COSMIC |
17 | g.8015449G>A | CA397954790 | GUCY2D | c.2891G>A (p.Arg964His)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8015449G>C | CA397954791 | GUCY2D | c.2891G>C (p.Arg964Pro)
| |
17 | g.8015449G= | CA2246120073 | GUCY2D | c.2891G= (p.Arg964=)
| |
17 | g.8015449G>T | CA397954792 | GUCY2D | c.2891G>T (p.Arg964Leu)
| gnomAD v4 |
17 | g.8015450C>A | CA497753691 | GUCY2D | c.2892C>A (p.Arg964=)
| ClinVar |
17 | g.8015450C= | CA2246120081 | GUCY2D | c.2892C= (p.Arg964=)
| |
17 | g.8015450C>G | CA8366248 | GUCY2D | c.2892C>G (p.Arg964=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8015450C>T | CA497753692 | GUCY2D | c.2892C>T (p.Arg964=)
| |
17 | g.8015451A= | CA2246120090 | GUCY2D | c.2893A= (p.Met965=)
| |
17 | g.8015451A>C | CA8366249 | GUCY2D | c.2893A>C (p.Met965Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8015451A>G | CA397954796 | GUCY2D | c.2893A>G (p.Met965Val)
| gnomAD v4 |
17 | g.8015451A>T | CA397954798 | GUCY2D | c.2893A>T (p.Met965Leu)
| |
17 | g.8015452T>A | CA397954801 | GUCY2D | c.2894T>A (p.Met965Lys)
| |
17 | g.8015452T>C | CA397954803 | GUCY2D | c.2894T>C (p.Met965Thr)
| |
17 | g.8015452T>G | CA397954805 | GUCY2D | c.2894T>G (p.Met965Arg)
| |
17 | g.8015453G>A | CA397954807 | GUCY2D | c.2895G>A (p.Met965Ile)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8015453G>C | CA397954809 | GUCY2D | c.2895G>C (p.Met965Ile)
| |
17 | g.8015453G= | CA2246120097 | GUCY2D | c.2895G= (p.Met965=)
| |
17 | g.8015453G>T | CA397954811 | GUCY2D | c.2895G>T (p.Met965Ile)
| |
17 | g.8015454C>A | CA397954813 | GUCY2D | c.2896C>A (p.Arg966Ser)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8015454C= | CA2246120101 | GUCY2D | c.2896C= (p.Arg966=)
| |
17 | g.8015454C>G | CA287533776 | GUCY2D | c.2896C>G (p.Arg966Gly)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8015454C>T | CA397954815 | GUCY2D | c.2896C>T (p.Arg966Cys)
| gnomAD v4 |
17 | g.8015455G>A | CA8366251 | GUCY2D | c.2897G>A (p.Arg966His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8015455G>C | CA8366250 | GUCY2D | c.2897G>C (p.Arg966Pro)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8015455G= | CA2246120112 | GUCY2D | c.2897G= (p.Arg966=)
| |
17 | g.8015455G>T | CA397954822 | GUCY2D | c.2897G>T (p.Arg966Leu)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8015455_8015456delinsGC | CA2246120109 | GUCY2D | c.2897_2898delinsGC (p.Arg966=)
| |
17 | g.8015456C>A | CA497753693 | GUCY2D | c.2898C>A (p.Arg966=)
| |
17 | g.8015456C>G | CA497753694 | GUCY2D | c.2898C>G (p.Arg966=)
| |
17 | g.8015456C>T | CA497753695 | GUCY2D | c.2898C>T (p.Arg966=)
| |
17 | g.8015457del | CA226104 | GUCY2D | c.2899del (p.His967IlefsTer11)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8015457C>A | CA397954829 | GUCY2D | c.2899C>A (p.His967Asn)
| |
17 | g.8015457C= | CA2246120128 | GUCY2D | c.2899C= (p.His967=)
| |
17 | g.8015457C>G | CA397954831 | GUCY2D | c.2899C>G (p.His967Asp)
| dbSNP |
17 | g.8015457C>T | CA397954833 | GUCY2D | c.2899C>T (p.His967Tyr)
| gnomAD v4 |
17 | g.8015458A= | CA2246120135 | GUCY2D | c.2900A= (p.His967=)
| |
17 | g.8015458A>C | CA397954836 | GUCY2D | c.2900A>C (p.His967Pro)
| gnomAD v4 |
17 | g.8015458A>G | CA397954837 | GUCY2D | c.2900A>G (p.His967Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8015458A>T | CA397954840 | GUCY2D | c.2900A>T (p.His967Leu)
| |
17 | g.8015460_8015461dup | CA624867985 | GUCY2D | c.2902_2903dup (p.Met968IlefsTer11)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8015459T>A | CA397954842 | GUCY2D | c.2901T>A (p.His967Gln)
| |
17 | g.8015459T>C | CA497753696 | GUCY2D | c.2901T>C (p.His967=)
| |
17 | g.8015459T>G | CA397954844 | GUCY2D | c.2901T>G (p.His967Gln)
| |
17 | g.8015460_8015470dup | CA2635954183 | GUCY2D | c.2902_2912dup (p.Pro972CysfsTer10)
| gnomAD v4 |
17 | g.8015460A>C | CA397954849 | GUCY2D | c.2902A>C (p.Met968Leu)
| |
17 | g.8015460A>G | CA397954846 | GUCY2D | c.2902A>G (p.Met968Val)
| gnomAD v4 |
17 | g.8015460A>T | CA397954847 | GUCY2D | c.2902A>T (p.Met968Leu)
| |
17 | g.8015461T>A | CA397954851 | GUCY2D | c.2903T>A (p.Met968Lys)
| |
17 | g.8015461T>C | CA397954853 | GUCY2D | c.2903T>C (p.Met968Thr)
| |
17 | g.8015461T>G | CA397954855 | GUCY2D | c.2903T>G (p.Met968Arg)
| |
17 | g.8015462G>A | CA397954857 | GUCY2D | c.2904G>A (p.Met968Ile)
| |
17 | g.8015462G>C | CA397954859 | GUCY2D | c.2904G>C (p.Met968Ile)
| |
17 | g.8015462G= | CA2246120142 | GUCY2D | c.2904G= (p.Met968=)
| |
17 | g.8015462G>T | CA397954861 | GUCY2D | c.2904G>T (p.Met968Ile)
| ClinVar dbSNP |
17 | g.8015463C>A | CA397954865 | GUCY2D | c.2905C>A (p.Pro969Thr)
| |
17 | g.8015463C= | CA2246120146 | GUCY2D | c.2905C= (p.Pro969=)
| |
17 | g.8015463C>G | CA397954867 | GUCY2D | c.2905C>G (p.Pro969Ala)
| |
17 | g.8015463C>T | CA397954869 | GUCY2D | c.2905C>T (p.Pro969Ser)
| ClinVar dbSNP gnomAD v4 |
17 | g.8015464dup | CA2839840307 | GUCY2D | c.2906dup (p.Glu970Ter)
| |
17 | g.8015464C>A | CA397954873 | GUCY2D | c.2906C>A (p.Pro969His)
| |
17 | g.8015464C= | CA2246120157 | GUCY2D | c.2906C= (p.Pro969=)
| |
17 | g.8015464C>G | CA397954875 | GUCY2D | c.2906C>G (p.Pro969Arg)
| |
17 | g.8015464C>T | CA397954877 | GUCY2D | c.2906C>T (p.Pro969Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8015465T>A | CA497753697 | GUCY2D | c.2907T>A (p.Pro969=)
| |
17 | g.8015465T>C | CA497753699 | GUCY2D | c.2907T>C (p.Pro969=)
| |
17 | g.8015465T>G | CA497753698 | GUCY2D | c.2907T>G (p.Pro969=)
| |
17 | g.8015466G>A | CA397954878 | GUCY2D | c.2908G>A (p.Glu970Lys)
| gnomAD v4 |
17 | g.8015466G>C | CA397954881 | GUCY2D | c.2908G>C (p.Glu970Gln)
| |
17 | g.8015466G>T | CA397954880 | GUCY2D | c.2908G>T (p.Glu970Ter)
| |
17 | g.8015467A>C | CA397954884 | GUCY2D | c.2909A>C (p.Glu970Ala)
| |
17 | g.8015467A>G | CA397954887 | GUCY2D | c.2909A>G (p.Glu970Gly)
| |
17 | g.8015467A>T | CA397954885 | GUCY2D | c.2909A>T (p.Glu970Val)
| |
17 | g.8015468G>A | CA497753700 | GUCY2D | c.2910G>A (p.Glu970=)
| |
17 | g.8015468G>C | CA397954890 | GUCY2D | c.2910G>C (p.Glu970Asp)
| |
17 | g.8015468G>T | CA397954891 | GUCY2D | c.2910G>T (p.Glu970Asp)
| |
17 | g.8015469G>A | CA397954894 | GUCY2D | c.2911G>A (p.Val971Ile)
| |
17 | g.8015469G>C | CA397954896 | GUCY2D | c.2911G>C (p.Val971Leu)
| |
17 | g.8015469G>T | CA397954897 | GUCY2D | c.2911G>T (p.Val971Phe)
| |
17 | g.8015470T>A | CA397954899 | GUCY2D | c.2912T>A (p.Val971Asp)
| |
17 | g.8015470T>C | CA397954901 | GUCY2D | c.2912T>C (p.Val971Ala)
| |
17 | g.8015470T>G | CA397954903 | GUCY2D | c.2912T>G (p.Val971Gly)
| |
17 | g.8015471T>A | CA497753701 | GUCY2D | c.2913T>A (p.Val971=)
| |
17 | g.8015471T>C | CA497753702 | GUCY2D | c.2913T>C (p.Val971=)
| |
17 | g.8015471T>G | CA497753703 | GUCY2D | c.2913T>G (p.Val971=)
| dbSNP gnomAD v4 |
17 | g.8015471T= | CA2246120160 | GUCY2D | c.2913T= (p.Val971=)
| |
17 | g.8015472C>A | CA397954905 | GUCY2D | c.2914C>A (p.Pro972Thr)
| |
17 | g.8015472C= | CA2246120172 | GUCY2D | c.2914C= (p.Pro972=)
| |
17 | g.8015472C>G | CA397954906 | GUCY2D | c.2914C>G (p.Pro972Ala)
| |
17 | g.8015472C>T | CA397954908 | GUCY2D | c.2914C>T (p.Pro972Ser)
| dbSNP gnomAD v2 |
17 | g.8015474del | CA2635954216 | GUCY2D | c.2916del (p.Val973CysfsTer5)
| gnomAD v4 |
17 | g.8015473C>A | CA397954913 | GUCY2D | c.2915C>A (p.Pro972His)
| gnomAD v4 |
17 | g.8015473C>G | CA397954911 | GUCY2D | c.2915C>G (p.Pro972Arg)
| |
17 | g.8015473C>T | CA397954910 | GUCY2D | c.2915C>T (p.Pro972Leu)
| |
17 | g.8015474C>A | CA497753704 | GUCY2D | c.2916C>A (p.Pro972=)
| |
17 | g.8015474C= | CA2246120173 | GUCY2D | c.2916C= (p.Pro972=)
| |
17 | g.8015474C>G | CA497753705 | GUCY2D | c.2916C>G (p.Pro972=)
| |
17 | g.8015474C>T | CA497753706 | GUCY2D | c.2916C>T (p.Pro972=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8015475G>A | CA8366253 | GUCY2D | c.2917G>A (p.Val973Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8015475G>C | CA397954917 | GUCY2D | c.2917G>C (p.Val973Leu)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8015475G= | CA2246120180 | GUCY2D | c.2917G= (p.Val973=)
| |
17 | g.8015475G>T | CA8366252 | GUCY2D | c.2917G>T (p.Val973Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8015476T>A | CA397954920 | GUCY2D | c.2918T>A (p.Val973Glu)
| |
17 | g.8015476T>C | CA397954922 | GUCY2D | c.2918T>C (p.Val973Ala)
| gnomAD v4 |
17 | g.8015476T>G | CA397954924 | GUCY2D | c.2918T>G (p.Val973Gly)
| |
17 | g.8015477G>A | CA497753707 | GUCY2D | c.2919G>A (p.Val973=)
| dbSNP gnomAD v4 |
17 | g.8015477G>C | CA497753708 | GUCY2D | c.2919G>C (p.Val973=)
| |
17 | g.8015477G= | CA2246120185 | GUCY2D | c.2919G= (p.Val973=)
| |
17 | g.8015477G>T | CA497753709 | GUCY2D | c.2919G>T (p.Val973=)
| |
17 | g.8015478C>A | CA397954926 | GUCY2D | c.2920C>A (p.Arg974Ser)
| |
17 | g.8015478C= | CA2246120192 | GUCY2D | c.2920C= (p.Arg974=)
| |
17 | g.8015478C>G | CA397954927 | GUCY2D | c.2920C>G (p.Arg974Gly)
| gnomAD v4 |
17 | g.8015478C>T | CA397954930 | GUCY2D | c.2920C>T (p.Arg974Cys)
| dbSNP |
17 | g.8015479G>A | CA240433 | GUCY2D | c.2921G>A (p.Arg974His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8015479G>C | CA397954932 | GUCY2D | c.2921G>C (p.Arg974Pro)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8015479G= | CA2246120200 | GUCY2D | c.2921G= (p.Arg974=)
| |
17 | g.8015479G>T | CA287533778 | GUCY2D | c.2921G>T (p.Arg974Leu)
| dbSNP |
17 | g.8015480C>A | CA497753710 | GUCY2D | c.2922C>A (p.Arg974=)
| |
17 | g.8015480C>G | CA497753711 | GUCY2D | c.2922C>G (p.Arg974=)
| |
17 | g.8015480C>T | CA497753712 | GUCY2D | c.2922C>T (p.Arg974=)
| |
17 | g.8015481A>C | CA397954939 | GUCY2D | c.2923A>C (p.Ile975Leu)
| |
17 | g.8015481A>G | CA397954937 | GUCY2D | c.2923A>G (p.Ile975Val)
| |
17 | g.8015481A>T | CA397954935 | GUCY2D | c.2923A>T (p.Ile975Phe)
| |
17 | g.8015482T>A | CA397954940 | GUCY2D | c.2924T>A (p.Ile975Asn)
| |
17 | g.8015482T>C | CA397954942 | GUCY2D | c.2924T>C (p.Ile975Thr)
| |
17 | g.8015482T>G | CA397954944 | GUCY2D | c.2924T>G (p.Ile975Ser)
| |
17 | g.8015483C>A | CA497753713 | GUCY2D | c.2925C>A (p.Ile975=)
| |
17 | g.8015483C= | CA2246120213 | GUCY2D | c.2925C= (p.Ile975=)
| |
17 | g.8015483C>G | CA397954946 | GUCY2D | c.2925C>G (p.Ile975Met)
| |
17 | g.8015483C>T | CA497753714 | GUCY2D | c.2925C>T (p.Ile975=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8015484C>A | CA397954948 | GUCY2D | c.2926C>A (p.Arg976Ser)
| |
17 | g.8015484C= | CA2246120219 | GUCY2D | c.2926C= (p.Arg976=)
| |
17 | g.8015484C>G | CA397954950 | GUCY2D | c.2926C>G (p.Arg976Gly)
| gnomAD v4 |
17 | g.8015484C>T | CA397954952 | GUCY2D | c.2926C>T (p.Arg976Cys)
| ClinVar dbSNP gnomAD v4 |
17 | g.8015485G>A | CA397954954 | GUCY2D | c.2927G>A (p.Arg976His)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8015485G>C | CA397954957 | GUCY2D | c.2927G>C (p.Arg976Pro)
| |
17 | g.8015485G= | CA2246120229 | GUCY2D | c.2927G= (p.Arg976=)
| |
17 | g.8015485G>T | CA226107 | GUCY2D | c.2927G>T (p.Arg976Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.8015486C>A | CA497753716 | GUCY2D | c.2928C>A (p.Arg976=)
| ClinVar dbSNP gnomAD v4 |
17 | g.8015486C= | CA2246120242 | GUCY2D | c.2928C= (p.Arg976=)
| |
17 | g.8015486C>G | CA497753715 | GUCY2D | c.2928C>G (p.Arg976=)
| |
17 | g.8015486C>T | CA8366254 | GUCY2D | c.2928C>T (p.Arg976=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8015487A>C | CA397954961 | GUCY2D | c.2929A>C (p.Ile977Leu)
| |
17 | g.8015487A>G | CA397954963 | GUCY2D | c.2929A>G (p.Ile977Val)
| |
17 | g.8015487A>T | CA397954965 | GUCY2D | c.2929A>T (p.Ile977Leu)
| ClinVar |
17 | g.8015488T>A | CA397954966 | GUCY2D | c.2930T>A (p.Ile977Lys)
| |
17 | g.8015488T>C | CA8366255 | GUCY2D | c.2930T>C (p.Ile977Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8015488T>G | CA397954968 | GUCY2D | c.2930T>G (p.Ile977Arg)
| |
17 | g.8015488T= | CA2246120250 | GUCY2D | c.2930T= (p.Ile977=)
| |
17 | g.8015489A>C | CA497753717 | GUCY2D | c.2931A>C (p.Ile977=)
| |
17 | g.8015489A>G | CA397954970 | GUCY2D | c.2931A>G (p.Ile977Met)
| |
17 | g.8015489A>T | CA497753718 | GUCY2D | c.2931A>T (p.Ile977=)
| gnomAD v4 |
17 | g.8015490G>A | CA397954971 | GUCY2D | c.2932G>A (p.Gly978Ser)
| |
17 | g.8015490G>C | CA397954973 | GUCY2D | c.2932G>C (p.Gly978Arg)
| |
17 | g.8015490G>T | CA397954975 | GUCY2D | c.2932G>T (p.Gly978Cys)
| |
17 | g.8015491G>A | CA397954977 | GUCY2D | c.2933G>A (p.Gly978Asp)
| ClinVar dbSNP gnomAD v4 |
17 | g.8015491G>C | CA397954979 | GUCY2D | c.2933G>C (p.Gly978Ala)
| ClinVar |
17 | g.8015491G= | CA2246120257 | GUCY2D | c.2933G= (p.Gly978=)
| |
17 | g.8015491G>T | CA8366256 | GUCY2D | c.2933G>T (p.Gly978Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8015492C>A | CA497753719 | GUCY2D | c.2934C>A (p.Gly978=)
| gnomAD v4 |
17 | g.8015492C= | CA2246120273 | GUCY2D | c.2934C= (p.Gly978=)
| |
17 | g.8015492C>G | CA8366257 | GUCY2D | c.2934C>G (p.Gly978=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8015492C>T | CA497753720 | GUCY2D | c.2934C>T (p.Gly978=)
| |
17 | g.8015493C>A | CA397954983 | GUCY2D | c.2935C>A (p.Leu979Met)
| |
17 | g.8015493C>G | CA397954985 | GUCY2D | c.2935C>G (p.Leu979Val)
| |
17 | g.8015493C>T | CA497753721 | GUCY2D | c.2935C>T (p.Leu979=)
| |
17 | g.8015494T>A | CA397954988 | GUCY2D | c.2936T>A (p.Leu979Gln)
| |
17 | g.8015494T>C | CA397954991 | GUCY2D | c.2936T>C (p.Leu979Pro)
| ClinVar dbSNP gnomAD v4 |
17 | g.8015494T>G | CA397954989 | GUCY2D | c.2936T>G (p.Leu979Arg)
| |
17 | g.8015494T= | CA2246120289 | GUCY2D | c.2936T= (p.Leu979=)
| |
17 | g.8015495del | CA2635954326 | GUCY2D | c.2937del (p.His980ThrfsTer?)
| gnomAD v4 |
17 | g.8015495G>A | CA497753722 | GUCY2D | c.2937G>A (p.Leu979=)
| |
17 | g.8015495G>C | CA497753723 | GUCY2D | c.2937G>C (p.Leu979=)
| |
17 | g.8015495G>T | CA497753724 | GUCY2D | c.2937G>T (p.Leu979=)
| |
17 | g.8015496C>A | CA397954994 | GUCY2D | c.2938C>A (p.His980Asn)
| gnomAD v4 |
17 | g.8015496C= | CA2246120301 | GUCY2D | c.2938C= (p.His980=)
| |
17 | g.8015496C>G | CA397954997 | GUCY2D | c.2938C>G (p.His980Asp)
| |
17 | g.8015496C>T | CA397954995 | GUCY2D | c.2938C>T (p.His980Tyr)
| ClinVar dbSNP gnomAD v4 |
17 | g.8015496_8015505delinsCACTCGGGTA | CA2246120299 | GUCY2D | c.2938_2944+3delinsCACTCGGGTA
| |
17 | g.8015497A= | CA2246120309 | GUCY2D | c.2939A= (p.His980=)
| |
17 | g.8015497A>C | CA397954999 | GUCY2D | c.2939A>C (p.His980Pro)
| |
17 | g.8015497A>G | CA397955004 | GUCY2D | c.2939A>G (p.His980Arg)
| |
17 | g.8015497A>T | CA8366258 | GUCY2D | c.2939A>T (p.His980Leu)
| ClinVar dbSNP ExAC gnomAD v2 |
17 | g.8015501_8015509del | CA624867986 | GUCY2D | c.2943_2944+7del
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8015498C>A | CA397955009 | GUCY2D | c.2940C>A (p.His980Gln)
| dbSNP |
17 | g.8015498C>G | CA397955010 | GUCY2D | c.2940C>G (p.His980Gln)
| |
17 | g.8015498C>T | CA497753725 | GUCY2D | c.2940C>T (p.His980=)
| gnomAD v4 |
17 | g.8015499T>A | CA397955012 | GUCY2D | c.2941T>A (p.Ser981Thr)
| |
17 | g.8015499T>C | CA397955014 | GUCY2D | c.2941T>C (p.Ser981Pro)
| |
17 | g.8015499T>G | CA397955016 | GUCY2D | c.2941T>G (p.Ser981Ala)
| |
17 | g.8015500C>A | CA397955018 | GUCY2D | c.2942C>A (p.Ser981Ter)
| gnomAD v4 |
17 | g.8015500C= | CA2246120318 | GUCY2D | c.2942C= (p.Ser981=)
| |
17 | g.8015500C>G | CA397955020 | GUCY2D | c.2942C>G (p.Ser981Trp)
| dbSNP |
17 | g.8015500C>T | CA397955022 | GUCY2D | c.2942C>T (p.Ser981Leu)
| ClinVar gnomAD v4 COSMIC |
17 | g.8015500_8015501delinsCG | CA2246120320 | GUCY2D | c.2942_2943delinsCG (p.Ser981=)
| |
17 | g.8015500_8015501insACA | CA2808381646 | GUCY2D | c.2942_2943insACA (p.Ser981_Gly982insGln)
| |
17 | g.8015501G>A | CA8366259 | GUCY2D | c.2943G>A (p.Ser981=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8015501G>C | CA497753727 | GUCY2D | c.2943G>C (p.Ser981=)
| gnomAD v4 |
17 | g.8015501G= | CA2246120329 | GUCY2D | c.2943G= (p.Ser981=)
| |
17 | g.8015501G>T | CA497753726 | GUCY2D | c.2943G>T (p.Ser981=)
| gnomAD v4 |
17 | g.8015503dup | CA2246120330 | GUCY2D | c.2944+1dup
| dbSNP |
17 | g.8015503del | CA226109 | GUCY2D | c.2944+1del
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8015502G>A | CA397955029 | GUCY2D | c.2944G>A (p.Gly982Ser)
| |
17 | g.8015502G>C | CA397955027 | GUCY2D | c.2944G>C (p.Gly982Arg)
| |
17 | g.8015502G>T | CA397955028 | GUCY2D | c.2944G>T (p.Gly982Cys)
| |
17 | g.8015503G>A | CA397955030 | GUCY2D | c.2944+1G>A (n.2944+1G>A)
| gnomAD v4 |
17 | g.8015503G>C | CA397955031 | GUCY2D | c.2944+1G>C (n.2944+1G>C)
| |
17 | g.8015503G>T | CA397955032 | GUCY2D | c.2944+1G>T (n.2944+1G>T)
| |
17 | g.8015504T>A | CA397955033 | GUCY2D | c.2944+2T>A (n.2944+2T>A)
| |
17 | g.8015504T>C | CA397955034 | GUCY2D | c.2944+2T>C (n.2944+2T>C)
| |
17 | g.8015504T>G | CA397955035 | GUCY2D | c.2944+2T>G (n.2944+2T>G)
| |
17 | g.8015504_8015505del | CA2808381647 | GUCY2D | c.2944+2_2944+3del (n.2944+2_2944+3del)
| |
17 | g.8015505A= | CA2246120333 | GUCY2D | c.2944+3A= (n.2944+3A=)
| |
17 | g.8015505A>G | CA8366260 | GUCY2D | c.2944+3A>G (n.2944+3A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8015505_8015509delinsAACTC | CA2246120335 | GUCY2D | c.2944+3_2944+7delinsAACTC (n.2944+3_2944+7delinsAACTC)
| |
17 | g.8015506A>G | CA2635954378 | GUCY2D | c.2944+4A>G (n.2944+4A>G)
| gnomAD v4 |
17 | g.8015506_8015509del | CA497753728 | GUCY2D | c.2944+4_2944+7del (n.2944+4_2944+7del)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8015508_8015511del | CA397955037 | GUCY2D | c.2944+6_2944+9del (n.2944+6_2944+9del)
| |