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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.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=) | |
| 17 | g.8015748T>A | CA397955085 | GUCY2D | c.2950T>A (p.Cys984Ser) | |
| 17 | g.8015748T>C | CA397955089 | GUCY2D | c.2950T>C (p.Cys984Arg) | ClinVar dbSNP |
| 17 | g.8015748T>G | CA397955087 | GUCY2D | c.2950T>G (p.Cys984Gly) | |
| 17 | g.8015748T= | CA2246120848 | GUCY2D | c.2950T= (p.Cys984=) | |
| 17 | g.8015748_8015754del | CA2635954946 | GUCY2D | c.2950_2956del (p.Cys984GlnfsTer?) | gnomAD v4 |
| 17 | g.8015749G>A | CA226110 | GUCY2D | c.2951G>A (p.Cys984Tyr) | ClinVar dbSNP gnomAD v4 |
| 17 | g.8015749G>C | CA397955091 | GUCY2D | c.2951G>C (p.Cys984Ser) | |
| 17 | g.8015749G= | CA2246120860 | GUCY2D | c.2951G= (p.Cys984=) | |
| 17 | g.8015749G>T | CA397955093 | GUCY2D | c.2951G>T (p.Cys984Phe) | |
| 17 | g.8015750C>A | CA397955095 | GUCY2D | c.2952C>A (p.Cys984Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8015750C= | CA2246120868 | GUCY2D | c.2952C= (p.Cys984=) | |
| 17 | g.8015750C>G | CA397955097 | GUCY2D | c.2952C>G (p.Cys984Trp) | |
| 17 | g.8015750C>T | CA497753817 | GUCY2D | c.2952C>T (p.Cys984=) | gnomAD v4 COSMIC |
| 17 | g.8015751G>A | CA397955100 | GUCY2D | c.2953G>A (p.Val985Met) | dbSNP gnomAD v4 |
| 17 | g.8015751G>C | CA397955101 | GUCY2D | c.2953G>C (p.Val985Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8015751G= | CA2246120880 | GUCY2D | c.2953G= (p.Val985=) | |
| 17 | g.8015751G>T | CA397955103 | GUCY2D | c.2953G>T (p.Val985Leu) | gnomAD v4 |
| 17 | g.8015752T>A | CA397955105 | GUCY2D | c.2954T>A (p.Val985Glu) | |
| 17 | g.8015752T>C | CA397955106 | GUCY2D | c.2954T>C (p.Val985Ala) | |
| 17 | g.8015752T>G | CA397955108 | GUCY2D | c.2954T>G (p.Val985Gly) | |
| 17 | g.8015753G>A | CA497753818 | GUCY2D | c.2955G>A (p.Val985=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8015753G>C | CA497753819 | GUCY2D | c.2955G>C (p.Val985=) | |
| 17 | g.8015753G= | CA2246120883 | GUCY2D | c.2955G= (p.Val985=) | |
| 17 | g.8015753G>T | CA497753820 | GUCY2D | c.2955G>T (p.Val985=) | |
| 17 | g.8015755_8015783del | CA2695224308 | GUCY2D | c.2957_2985del (p.Ala986ValfsTer?) | |
| 17 | g.8015754G>A | CA397955112 | GUCY2D | c.2956G>A (p.Ala986Thr) | gnomAD v4 |
| 17 | g.8015754G>C | CA397955110 | GUCY2D | c.2956G>C (p.Ala986Pro) | |
| 17 | g.8015754G>T | CA397955111 | GUCY2D | c.2956G>T (p.Ala986Ser) | |
| 17 | g.8015755C>A | CA397955114 | GUCY2D | c.2957C>A (p.Ala986Glu) | gnomAD v4 |
| 17 | g.8015755C= | CA2246120886 | GUCY2D | c.2957C= (p.Ala986=) | |
| 17 | g.8015755C>G | CA397955116 | GUCY2D | c.2957C>G (p.Ala986Gly) | |
| 17 | g.8015755C>T | CA397955118 | GUCY2D | c.2957C>T (p.Ala986Val) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8015756A= | CA2246120891 | GUCY2D | c.2958A= (p.Ala986=) | |
| 17 | g.8015756A>C | CA497753821 | GUCY2D | c.2958A>C (p.Ala986=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8015756A>G | CA497753822 | GUCY2D | c.2958A>G (p.Ala986=) | |
| 17 | g.8015756A>T | CA497753823 | GUCY2D | c.2958A>T (p.Ala986=) | |
| 17 | g.8015757G>A | CA397955120 | GUCY2D | c.2959G>A (p.Gly987Ser) | |
| 17 | g.8015757G>C | CA397955122 | GUCY2D | c.2959G>C (p.Gly987Arg) | |
| 17 | g.8015757G>T | CA397955124 | GUCY2D | c.2959G>T (p.Gly987Cys) | |
| 17 | g.8015758G>A | CA397955126 | GUCY2D | c.2960G>A (p.Gly987Asp) | |
| 17 | g.8015758G>C | CA397955128 | GUCY2D | c.2960G>C (p.Gly987Ala) | dbSNP |
| 17 | g.8015758G= | CA2246120898 | GUCY2D | c.2960G= (p.Gly987=) | |
| 17 | g.8015758G>T | CA397955130 | GUCY2D | c.2960G>T (p.Gly987Val) | gnomAD v4 COSMIC |
| 17 | g.8015759_8015760del | CA2635954968 | GUCY2D | c.2961_2962del (p.Val988GlyfsTer?) | gnomAD v4 |
| 17 | g.8015759C>A | CA497753826 | GUCY2D | c.2961C>A (p.Gly987=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.8015759C= | CA2246120909 | GUCY2D | c.2961C= (p.Gly987=) | |
| 17 | g.8015759C>G | CA497753827 | GUCY2D | c.2961C>G (p.Gly987=) | |
| 17 | g.8015759C>T | CA8366274 | GUCY2D | c.2961C>T (p.Gly987=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8015760G>A | CA397955135 | GUCY2D | c.2962G>A (p.Val988Met) | dbSNP gnomAD v4 |
| 17 | g.8015760G>C | CA397955137 | GUCY2D | c.2962G>C (p.Val988Leu) | |
| 17 | g.8015760G= | CA2246120915 | GUCY2D | c.2962G= (p.Val988=) | |
| 17 | g.8015760G>T | CA397955133 | GUCY2D | c.2962G>T (p.Val988Leu) | |
| 17 | g.8015761T>A | CA397955139 | GUCY2D | c.2963T>A (p.Val988Glu) | |
| 17 | g.8015761T>C | CA397955140 | GUCY2D | c.2963T>C (p.Val988Ala) | |
| 17 | g.8015761T>G | CA397955142 | GUCY2D | c.2963T>G (p.Val988Gly) | |
| 17 | g.8015762G>A | CA497753828 | GUCY2D | c.2964G>A (p.Val988=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8015762G>C | CA497753829 | GUCY2D | c.2964G>C (p.Val988=) | |
| 17 | g.8015762G= | CA2246120920 | GUCY2D | c.2964G= (p.Val988=) | |
| 17 | g.8015762G>T | CA497753830 | GUCY2D | c.2964G>T (p.Val988=) | |
| 17 | g.8015762_8015772del | CA2635954976 | GUCY2D | c.2964_2974del (p.Val989HisfsTer?) | gnomAD v4 |
| 17 | g.8015763G>A | CA397955144 | GUCY2D | c.2965G>A (p.Val989Met) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8015763G>C | CA397955146 | GUCY2D | c.2965G>C (p.Val989Leu) | ClinVar dbSNP |
| 17 | g.8015763G= | CA2246120923 | GUCY2D | c.2965G= (p.Val989=) | |
| 17 | g.8015763G>T | CA397955148 | GUCY2D | c.2965G>T (p.Val989Leu) | |
| 17 | g.8015764T>A | CA397955150 | GUCY2D | c.2966T>A (p.Val989Glu) | |
| 17 | g.8015764T>C | CA397955152 | GUCY2D | c.2966T>C (p.Val989Ala) | |
| 17 | g.8015764T>G | CA397955154 | GUCY2D | c.2966T>G (p.Val989Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8015764T= | CA2246120928 | GUCY2D | c.2966T= (p.Val989=) | |
| 17 | g.8015765G>A | CA497753832 | GUCY2D | c.2967G>A (p.Val989=) | |
| 17 | g.8015765G>C | CA497753833 | GUCY2D | c.2967G>C (p.Val989=) | |
| 17 | g.8015765G>T | CA497753834 | GUCY2D | c.2967G>T (p.Val989=) | gnomAD v4 |
| 17 | g.8015766G>A | CA397955156 | GUCY2D | c.2968G>A (p.Gly990Ser) | dbSNP gnomAD v2 |
| 17 | g.8015766G>C | CA397955159 | GUCY2D | c.2968G>C (p.Gly990Arg) | |
| 17 | g.8015766G= | CA2246120930 | GUCY2D | c.2968G= (p.Gly990=) | |
| 17 | g.8015766G>T | CA397955160 | GUCY2D | c.2968G>T (p.Gly990Cys) | |
| 17 | g.8015767G>A | CA397955166 | GUCY2D | c.2969G>A (p.Gly990Asp) | |
| 17 | g.8015767G>C | CA397955163 | GUCY2D | c.2969G>C (p.Gly990Ala) | |
| 17 | g.8015767G= | CA2246120935 | GUCY2D | c.2969G= (p.Gly990=) | |
| 17 | g.8015767G>T | CA397955165 | GUCY2D | c.2969G>T (p.Gly990Val) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8015768C>A | CA497753836 | GUCY2D | c.2970C>A (p.Gly990=) | gnomAD v4 |
| 17 | g.8015768C>G | CA497753837 | GUCY2D | c.2970C>G (p.Gly990=) | |
| 17 | g.8015768C>T | CA497753838 | GUCY2D | c.2970C>T (p.Gly990=) | |
| 17 | g.8015769C>A | CA397955168 | GUCY2D | c.2971C>A (p.Leu991Ile) | gnomAD v4 |
| 17 | g.8015769C>G | CA397955170 | GUCY2D | c.2971C>G (p.Leu991Val) | gnomAD v4 |
| 17 | g.8015769C>T | CA397955175 | GUCY2D | c.2971C>T (p.Leu991Phe) | gnomAD v4 |
| 17 | g.8015770T>A | CA397955177 | GUCY2D | c.2972T>A (p.Leu991His) | |
| 17 | g.8015770T>C | CA397955179 | GUCY2D | c.2972T>C (p.Leu991Pro) | |
| 17 | g.8015770T>G | CA397955181 | GUCY2D | c.2972T>G (p.Leu991Arg) | |
| 17 | g.8015771C>A | CA497753841 | GUCY2D | c.2973C>A (p.Leu991=) | gnomAD v4 |
| 17 | g.8015771C>G | CA497753840 | GUCY2D | c.2973C>G (p.Leu991=) | |
| 17 | g.8015771C>T | CA497753839 | GUCY2D | c.2973C>T (p.Leu991=) | |
| 17 | g.8015772A>C | CA397955183 | GUCY2D | c.2974A>C (p.Thr992Pro) | |
| 17 | g.8015772A>G | CA397955185 | GUCY2D | c.2974A>G (p.Thr992Ala) | |
| 17 | g.8015772A>T | CA397955187 | GUCY2D | c.2974A>T (p.Thr992Ser) | |
| 17 | g.8015773C>A | CA397955188 | GUCY2D | c.2975C>A (p.Thr992Asn) | |
| 17 | g.8015773C= | CA2246120939 | GUCY2D | c.2975C= (p.Thr992=) | |
| 17 | g.8015773C>G | CA397955190 | GUCY2D | c.2975C>G (p.Thr992Ser) | |
| 17 | g.8015773C>T | CA287534071 | GUCY2D | c.2975C>T (p.Thr992Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8015774C>A | CA497753845 | GUCY2D | c.2976C>A (p.Thr992=) | |
| 17 | g.8015774C>G | CA497753846 | GUCY2D | c.2976C>G (p.Thr992=) | |
| 17 | g.8015774C>T | CA497753847 | GUCY2D | c.2976C>T (p.Thr992=) | |
| 17 | g.8015775A>C | CA397955196 | GUCY2D | c.2977A>C (p.Met993Leu) | |
| 17 | g.8015775A>G | CA397955195 | GUCY2D | c.2977A>G (p.Met993Val) | |
| 17 | g.8015775A>T | CA397955193 | GUCY2D | c.2977A>T (p.Met993Leu) | |
| 17 | g.8015775_8015776delinsAT | CA2246120944 | GUCY2D | c.2977_2978delinsAT (p.Met993=) | |
| 17 | g.8015776del | CA915949558 | GUCY2D | c.2978del (p.Met993SerfsTer28) | ClinVar dbSNP |
| 17 | g.8015776T>A | CA397955198 | GUCY2D | c.2978T>A (p.Met993Lys) | |
| 17 | g.8015776T>C | CA397955201 | GUCY2D | c.2978T>C (p.Met993Thr) | dbSNP |
| 17 | g.8015776T>G | CA397955199 | GUCY2D | c.2978T>G (p.Met993Arg) | |
| 17 | g.8015776T= | CA2246120952 | GUCY2D | c.2978T= (p.Met993=) | |
| 17 | g.8015777G>A | CA397955203 | GUCY2D | c.2979G>A (p.Met993Ile) | |
| 17 | g.8015777G>C | CA397955207 | GUCY2D | c.2979G>C (p.Met993Ile) | |
| 17 | g.8015777G>T | CA397955205 | GUCY2D | c.2979G>T (p.Met993Ile) | gnomAD v4 |
| 17 | g.8015778C>A | CA397955208 | GUCY2D | c.2980C>A (p.Pro994Thr) | |
| 17 | g.8015778C= | CA2246120963 | GUCY2D | c.2980C= (p.Pro994=) | |
| 17 | g.8015778C>G | CA397955211 | GUCY2D | c.2980C>G (p.Pro994Ala) | |
| 17 | g.8015778C>T | CA397955209 | GUCY2D | c.2980C>T (p.Pro994Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8015779del | CA2635954988 | GUCY2D | c.2981del (p.Pro994ArgfsTer27) | gnomAD v4 |
| 17 | g.8015779C>A | CA397955214 | GUCY2D | c.2981C>A (p.Pro994Gln) | gnomAD v4 |
| 17 | g.8015779C>G | CA397955215 | GUCY2D | c.2981C>G (p.Pro994Arg) | |
| 17 | g.8015779C>T | CA397955217 | GUCY2D | c.2981C>T (p.Pro994Leu) | |
| 17 | g.8015780G>A | CA287534084 | GUCY2D | c.2982G>A (p.Pro994=) | dbSNP gnomAD v4 |
| 17 | g.8015780G>C | CA497753849 | GUCY2D | c.2982G>C (p.Pro994=) | gnomAD v4 |
| 17 | g.8015780G= | CA2246120973 | GUCY2D | c.2982G= (p.Pro994=) | |
| 17 | g.8015780G>T | CA497753850 | GUCY2D | c.2982G>T (p.Pro994=) | |
| 17 | g.8015781C>A | CA497753851 | GUCY2D | c.2983C>A (p.Arg995=) | |
| 17 | g.8015781C= | CA2246120983 | GUCY2D | c.2983C= (p.Arg995=) | |
| 17 | g.8015781C>G | CA397955219 | GUCY2D | c.2983C>G (p.Arg995Gly) | |
| 17 | g.8015781C>T | CA226112 | GUCY2D | c.2983C>T (p.Arg995Trp) | ClinVar dbSNP gnomAD v4 COSMIC |
| 17 | g.8015782G>A | CA397955222 | GUCY2D | c.2984G>A (p.Arg995Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8015782G>C | CA8366275 | GUCY2D | c.2984G>C (p.Arg995Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.8015782G= | CA2246120991 | GUCY2D | c.2984G= (p.Arg995=) | |
| 17 | g.8015782G>T | CA287534095 | GUCY2D | c.2984G>T (p.Arg995Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8015783G>A | CA497753852 | GUCY2D | c.2985G>A (p.Arg995=) | gnomAD v4 |
| 17 | g.8015783G>C | CA497753853 | GUCY2D | c.2985G>C (p.Arg995=) | |
| 17 | g.8015783G>T | CA497753854 | GUCY2D | c.2985G>T (p.Arg995=) | |
| 17 | g.8015784T>A | CA397955227 | GUCY2D | c.2986T>A (p.Tyr996Asn) | |
| 17 | g.8015784T>C | CA397955229 | GUCY2D | c.2986T>C (p.Tyr996His) | |
| 17 | g.8015784T>G | CA397955230 | GUCY2D | c.2986T>G (p.Tyr996Asp) | |
| 17 | g.8015785A>C | CA397955236 | GUCY2D | c.2987A>C (p.Tyr996Ser) | |
| 17 | g.8015785A>G | CA397955233 | GUCY2D | c.2987A>G (p.Tyr996Cys) | gnomAD v4 |
| 17 | g.8015785A>T | CA397955235 | GUCY2D | c.2987A>T (p.Tyr996Phe) | |
| 17 | g.8015786C>A | CA397955239 | GUCY2D | c.2988C>A (p.Tyr996Ter) | |
| 17 | g.8015786C= | CA2246121008 | GUCY2D | c.2988C= (p.Tyr996=) | |
| 17 | g.8015786C>G | CA397955241 | GUCY2D | c.2988C>G (p.Tyr996Ter) | ClinVar dbSNP |
| 17 | g.8015786C>T | CA497753856 | GUCY2D | c.2988C>T (p.Tyr996=) | |
| 17 | g.8015787T>A | CA397955243 | GUCY2D | c.2989T>A (p.Cys997Ser) | |
| 17 | g.8015787T>C | CA397955245 | GUCY2D | c.2989T>C (p.Cys997Arg) | |
| 17 | g.8015787T>G | CA397955247 | GUCY2D | c.2989T>G (p.Cys997Gly) | |
| 17 | g.8015788G>A | CA397955249 | GUCY2D | c.2990G>A (p.Cys997Tyr) | gnomAD v4 |
| 17 | g.8015788G>C | CA397955251 | GUCY2D | c.2990G>C (p.Cys997Ser) | |
| 17 | g.8015788G= | CA2246121014 | GUCY2D | c.2990G= (p.Cys997=) | |
| 17 | g.8015788G>T | CA287534097 | GUCY2D | c.2990G>T (p.Cys997Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8015789C>A | CA397955254 | GUCY2D | c.2991C>A (p.Cys997Ter) | |
| 17 | g.8015789C= | CA2246121018 | GUCY2D | c.2991C= (p.Cys997=) | |
| 17 | g.8015789C>G | CA397955256 | GUCY2D | c.2991C>G (p.Cys997Trp) | |
| 17 | g.8015789C>T | CA287534099 | GUCY2D | c.2991C>T (p.Cys997=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8015790C>A | CA397955258 | GUCY2D | c.2992C>A (p.Leu998Met) | |
| 17 | g.8015790C>G | CA397955260 | GUCY2D | c.2992C>G (p.Leu998Val) | |
| 17 | g.8015790C>T | CA497753857 | GUCY2D | c.2992C>T (p.Leu998=) | ClinVar gnomAD v4 |
| 17 | g.8015791T>A | CA397955262 | GUCY2D | c.2993T>A (p.Leu998Gln) | |
| 17 | g.8015791T>C | CA397955264 | GUCY2D | c.2993T>C (p.Leu998Pro) | |
| 17 | g.8015791T>G | CA397955266 | GUCY2D | c.2993T>G (p.Leu998Arg) | |
| 17 | g.8015792G>A | CA287534102 | GUCY2D | c.2994G>A (p.Leu998=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8015792G>C | CA287534101 | GUCY2D | c.2994G>C (p.Leu998=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8015792G= | CA2246121021 | GUCY2D | c.2994G= (p.Leu998=) | |
| 17 | g.8015792G>T | CA497753859 | GUCY2D | c.2994G>T (p.Leu998=) | |
| 17 | g.8015792_8015793delinsGT | CA2246121022 | GUCY2D | c.2994_2995delinsGT (p.Leu998=) | |
| 17 | g.8015793T>A | CA397955270 | GUCY2D | c.2995T>A (p.Phe999Ile) | |
| 17 | g.8015793T>C | CA397955271 | GUCY2D | c.2995T>C (p.Phe999Leu) | gnomAD v4 |
| 17 | g.8015793T>G | CA397955273 | GUCY2D | c.2995T>G (p.Phe999Val) | |
| 17 | g.8015795del | CA1139664116 | GUCY2D | c.2997del (p.Phe999LeufsTer22) | ClinVar dbSNP |
| 17 | g.8015794T>A | CA8366276 | GUCY2D | c.2996T>A (p.Phe999Tyr) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 17 | g.8015794T>C | CA397955276 | GUCY2D | c.2996T>C (p.Phe999Ser) | gnomAD v4 |
| 17 | g.8015794T>G | CA397955278 | GUCY2D | c.2996T>G (p.Phe999Cys) | |
| 17 | g.8015794T= | CA2246121031 | GUCY2D | c.2996T= (p.Phe999=) | |
| 17 | g.8015795T>A | CA397955280 | GUCY2D | c.2997T>A (p.Phe999Leu) | |
| 17 | g.8015795T>C | CA497753861 | GUCY2D | c.2997T>C (p.Phe999=) | |
| 17 | g.8015795T>G | CA397955282 | GUCY2D | c.2997T>G (p.Phe999Leu) | |
| 17 | g.8015796G>A | CA397955287 | GUCY2D | c.2998G>A (p.Gly1000Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8015796G>C | CA397955284 | GUCY2D | c.2998G>C (p.Gly1000Arg) | |
| 17 | g.8015796G= | CA2246121033 | GUCY2D | c.2998G= (p.Gly1000=) | |
| 17 | g.8015796G>T | CA397955286 | GUCY2D | c.2998G>T (p.Gly1000Trp) | |
| 17 | g.8015797G>A | CA397955289 | GUCY2D | c.2999G>A (p.Gly1000Glu) | ClinVar dbSNP gnomAD v4 |
| 17 | g.8015797G>C | CA397955291 | GUCY2D | c.2999G>C (p.Gly1000Ala) | |
| 17 | g.8015797G= | CA2246121038 | GUCY2D | c.2999G= (p.Gly1000=) | |
| 17 | g.8015797G>T | CA397955293 | GUCY2D | c.2999G>T (p.Gly1000Val) | |
| 17 | g.8015798G>A | CA497753863 | GUCY2D | c.3000G>A (p.Gly1000=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8015798G>C | CA497753864 | GUCY2D | c.3000G>C (p.Gly1000=) | |
| 17 | g.8015798G= | CA2246121045 | GUCY2D | c.3000G= (p.Gly1000=) | |
| 17 | g.8015798G>T | CA497753862 | GUCY2D | c.3000G>T (p.Gly1000=) | gnomAD v4 |
| 17 | g.8015799G>A | CA397955294 | GUCY2D | c.3001G>A (p.Asp1001Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8015799G>C | CA397955296 | GUCY2D | c.3001G>C (p.Asp1001His) | gnomAD v4 |
| 17 | g.8015799G= | CA2246121052 | GUCY2D | c.3001G= (p.Asp1001=) | |
| 17 | g.8015799G>T | CA397955298 | GUCY2D | c.3001G>T (p.Asp1001Tyr) | |
| 17 | g.8015800A>C | CA397955300 | GUCY2D | c.3002A>C (p.Asp1001Ala) | |
| 17 | g.8015800A>G | CA397955302 | GUCY2D | c.3002A>G (p.Asp1001Gly) | |
| 17 | g.8015800A>T | CA397955304 | GUCY2D | c.3002A>T (p.Asp1001Val) | |
| 17 | g.8015801C>A | CA397955306 | GUCY2D | c.3003C>A (p.Asp1001Glu) | |
| 17 | g.8015801C>G | CA397955308 | GUCY2D | c.3003C>G (p.Asp1001Glu) | |
| 17 | g.8015801C>T | CA497753866 | GUCY2D | c.3003C>T (p.Asp1001=) | gnomAD v4 |
| 17 | g.8015802A>C | CA397955312 | GUCY2D | c.3004A>C (p.Thr1002Pro) | ClinVar |
| 17 | g.8015802A>G | CA397955314 | GUCY2D | c.3004A>G (p.Thr1002Ala) | |
| 17 | g.8015802A>T | CA397955310 | GUCY2D | c.3004A>T (p.Thr1002Ser) | |
| 17 | g.8015803C>A | CA397955320 | GUCY2D | c.3005C>A (p.Thr1002Lys) | |
| 17 | g.8015803C= | CA2246121054 | GUCY2D | c.3005C= (p.Thr1002=) | |
| 17 | g.8015803C>G | CA397955316 | GUCY2D | c.3005C>G (p.Thr1002Arg) | gnomAD v4 |
| 17 | g.8015803C>T | CA397955318 | GUCY2D | c.3005C>T (p.Thr1002Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8015804G>A | CA8366277 | GUCY2D | c.3006G>A (p.Thr1002=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.8015804G>C | CA497753869 | GUCY2D | c.3006G>C (p.Thr1002=) | |
| 17 | g.8015804G= | CA2246121059 | GUCY2D | c.3006G= (p.Thr1002=) | |
| 17 | g.8015804G>T | CA497753867 | GUCY2D | c.3006G>T (p.Thr1002=) | gnomAD v4 |
| 17 | g.8015805G>A | CA397955322 | GUCY2D | c.3007G>A (p.Val1003Ile) | |
| 17 | g.8015805G>C | CA397955324 | GUCY2D | c.3007G>C (p.Val1003Leu) | |
| 17 | g.8015805G= | CA2246121061 | GUCY2D | c.3007G= (p.Val1003=) | |
| 17 | g.8015805G>T | CA397955326 | GUCY2D | c.3007G>T (p.Val1003Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8015806T>A | CA397955328 | GUCY2D | c.3008T>A (p.Val1003Asp) | |
| 17 | g.8015806T>C | CA397955329 | GUCY2D | c.3008T>C (p.Val1003Ala) | |
| 17 | g.8015806T>G | CA397955331 | GUCY2D | c.3008T>G (p.Val1003Gly) | |
| 17 | g.8015807C>A | CA497753870 | GUCY2D | c.3009C>A (p.Val1003=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8015807C= | CA2246121065 | GUCY2D | c.3009C= (p.Val1003=) | |
| 17 | g.8015807C>G | CA497753871 | GUCY2D | c.3009C>G (p.Val1003=) | |
| 17 | g.8015807C>T | CA497753872 | GUCY2D | c.3009C>T (p.Val1003=) | ClinVar dbSNP |
| 17 | g.8015808A>C | CA397955333 | GUCY2D | c.3010A>C (p.Asn1004His) | |
| 17 | g.8015808A>G | CA397955335 | GUCY2D | c.3010A>G (p.Asn1004Asp) | gnomAD v4 |
| 17 | g.8015808A>T | CA397955337 | GUCY2D | c.3010A>T (p.Asn1004Tyr) | |
| 17 | g.8015809A>C | CA397955343 | GUCY2D | c.3011A>C (p.Asn1004Thr) | |
| 17 | g.8015809A>G | CA397955342 | GUCY2D | c.3011A>G (p.Asn1004Ser) | |
| 17 | g.8015809A>T | CA397955340 | GUCY2D | c.3011A>T (p.Asn1004Ile) | |
| 17 | g.8015810C>A | CA397955344 | GUCY2D | c.3012C>A (p.Asn1004Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8015810C= | CA2246121071 | GUCY2D | c.3012C= (p.Asn1004=) | |
| 17 | g.8015810C>G | CA397955345 | GUCY2D | c.3012C>G (p.Asn1004Lys) | |
| 17 | g.8015810C>T | CA8366278 | GUCY2D | c.3012C>T (p.Asn1004=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8015811A>C | CA397955347 | GUCY2D | c.3013A>C (p.Thr1005Pro) | |
| 17 | g.8015811A>G | CA397955349 | GUCY2D | c.3013A>G (p.Thr1005Ala) | |
| 17 | g.8015811A>T | CA397955351 | GUCY2D | c.3013A>T (p.Thr1005Ser) | |
| 17 | g.8015812C>A | CA397955353 | GUCY2D | c.3014C>A (p.Thr1005Asn) | |
| 17 | g.8015812C= | CA2246121084 | GUCY2D | c.3014C= (p.Thr1005=) | |
| 17 | g.8015812C>G | CA397955355 | GUCY2D | c.3014C>G (p.Thr1005Ser) | gnomAD v4 |
| 17 | g.8015812C>T | CA8366279 | GUCY2D | c.3014C>T (p.Thr1005Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8015813C>A | CA497753876 | GUCY2D | c.3015C>A (p.Thr1005=) | dbSNP gnomAD v2 |
| 17 | g.8015813C= | CA2246121090 | GUCY2D | c.3015C= (p.Thr1005=) | |
| 17 | g.8015813C>G | CA497753877 | GUCY2D | c.3015C>G (p.Thr1005=) | |
| 17 | g.8015813C>T | CA497753878 | GUCY2D | c.3015C>T (p.Thr1005=) | ClinVar gnomAD v4 |
| 17 | g.8015816_8015822del | CA2808381770 | GUCY2D | c.3018_3024del (p.Ser1007TrpfsTer12) | |
| 17 | g.8015814G>A | CA397955358 | GUCY2D | c.3016G>A (p.Ala1006Thr) | gnomAD v4 COSMIC |
| 17 | g.8015814G>C | CA397955360 | GUCY2D | c.3016G>C (p.Ala1006Pro) | |
| 17 | g.8015814G>T | CA397955362 | GUCY2D | c.3016G>T (p.Ala1006Ser) | gnomAD v4 |
| 17 | g.8015815C>A | CA397955368 | GUCY2D | c.3017C>A (p.Ala1006Asp) | gnomAD v4 |
| 17 | g.8015815C>G | CA397955366 | GUCY2D | c.3017C>G (p.Ala1006Gly) | |
| 17 | g.8015815C>T | CA397955364 | GUCY2D | c.3017C>T (p.Ala1006Val) | |
| 17 | g.8015816C>A | CA497753879 | GUCY2D | c.3018C>A (p.Ala1006=) | |
| 17 | g.8015816C>G | CA497753880 | GUCY2D | c.3018C>G (p.Ala1006=) | ClinVar |
| 17 | g.8015816C>T | CA497753881 | GUCY2D | c.3018C>T (p.Ala1006=) | ClinVar gnomAD v4 |
| 17 | g.8015817T>A | CA397955371 | GUCY2D | c.3019T>A (p.Ser1007Thr) | |
| 17 | g.8015817T>C | CA397955373 | GUCY2D | c.3019T>C (p.Ser1007Pro) | |
| 17 | g.8015817T>G | CA397955375 | GUCY2D | c.3019T>G (p.Ser1007Ala) | |
| 17 | g.8015817_8015819delinsTCG | CA2246121093 | GUCY2D | c.3019_3021delinsTCG (p.Ser1007=) | |
| 17 | g.8015818C>A | CA397955377 | GUCY2D | c.3020C>A (p.Ser1007Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8015818C= | CA2246121098 | GUCY2D | c.3020C= (p.Ser1007=) | |
| 17 | g.8015818C>G | CA397955378 | GUCY2D | c.3020C>G (p.Ser1007Trp) | gnomAD v4 |
| 17 | g.8015818C>T | CA397955379 | GUCY2D | c.3020C>T (p.Ser1007Leu) | ClinVar gnomAD v4 |
| 17 | g.8015821_8015822del | CA2246121096 | GUCY2D | c.3023_3024del (p.Arg1008HisfsTer?) | dbSNP |
| 17 | g.8015819G>A | CA287534144 | GUCY2D | c.3021G>A (p.Ser1007=) | dbSNP gnomAD v4 |
| 17 | g.8015819G>C | CA497753883 | GUCY2D | c.3021G>C (p.Ser1007=) | |
| 17 | g.8015819G= | CA2246121106 | GUCY2D | c.3021G= (p.Ser1007=) | |
| 17 | g.8015819G>T | CA497753882 | GUCY2D | c.3021G>T (p.Ser1007=) | |
| 17 | g.8015820C>A | CA397955382 | GUCY2D | c.3022C>A (p.Arg1008Ser) | |
| 17 | g.8015820C>G | CA397955386 | GUCY2D | c.3022C>G (p.Arg1008Gly) | |
| 17 | g.8015820C>T | CA397955384 | GUCY2D | c.3022C>T (p.Arg1008Cys) | gnomAD v4 |
| 17 | g.8015821G>A | CA8366280 | GUCY2D | c.3023G>A (p.Arg1008His) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.8015821G>C | CA397955388 | GUCY2D | c.3023G>C (p.Arg1008Pro) | |
| 17 | g.8015821G= | CA2246121110 | GUCY2D | c.3023G= (p.Arg1008=) | |
| 17 | g.8015821G>T | CA397955390 | GUCY2D | c.3023G>T (p.Arg1008Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8015822C>A | CA497753887 | GUCY2D | c.3024C>A (p.Arg1008=) | |
| 17 | g.8015822C= | CA2246121114 | GUCY2D | c.3024C= (p.Arg1008=) | |
| 17 | g.8015822C>G | CA497753888 | GUCY2D | c.3024C>G (p.Arg1008=) | |
| 17 | g.8015822C>T | CA8366281 | GUCY2D | c.3024C>T (p.Arg1008=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.8015823A= | CA2246121121 | GUCY2D | c.3025A= (p.Met1009=) | |
| 17 | g.8015823A>C | CA287534181 | GUCY2D | c.3025A>C (p.Met1009Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8015823A>G | CA397955395 | GUCY2D | c.3025A>G (p.Met1009Val) | gnomAD v4 |
| 17 | g.8015823A>T | CA226116 | GUCY2D | c.3025A>T (p.Met1009Leu) | ClinVar dbSNP gnomAD v4 |