6 | g.64902391A= | CA1633964726 | EYS | c.2738+13T= (n.2738+13T=)
| |
6 | g.64902391A>G | CA10624520 | EYS | c.2738+13T>C (n.2738+13T>C)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64902391A>T | CA2771486878 | EYS | c.2738+13T>A (n.2738+13T>A)
| |
6 | g.64902393G>A | CA140379038 | EYS | c.2738+11C>T (n.2738+11C>T)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.64902393G>C | CA2739273221 | EYS | c.2738+11C>G (n.2738+11C>G)
| ClinVar |
6 | g.64902393G= | CA1633964727 | EYS | c.2738+11C= (n.2738+11C=)
| |
6 | g.64902393G>T | CA140379039 | EYS | c.2738+11C>A (n.2738+11C>A)
| ClinVar dbSNP gnomAD v4 |
6 | g.64902394T>C | CA2679287290 | EYS | c.2738+10A>G (n.2738+10A>G)
| gnomAD v4 |
6 | g.64902394T>G | CA2771486879 | EYS | c.2738+10A>C (n.2738+10A>C)
| |
6 | g.64902396T>G | CA140379040 | EYS | c.2738+8A>C (n.2738+8A>C)
| dbSNP |
6 | g.64902396T= | CA1633964728 | EYS | c.2738+8A= (n.2738+8A=)
| |
6 | g.64902397T>C | CA1633964730 | EYS | c.2738+7A>G (n.2738+7A>G)
| ClinVar dbSNP gnomAD v4 |
6 | g.64902397T= | CA1633964729 | EYS | c.2738+7A= (n.2738+7A=)
| |
6 | g.64902398C= | CA1633964731 | EYS | c.2738+6G= (n.2738+6G=)
| |
6 | g.64902398C>G | CA1089876895 | EYS | c.2738+6G>C (n.2738+6G>C)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.64902398C>T | CA568119231 | EYS | c.2738+6G>A (n.2738+6G>A)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.64902399T>G | CA827113994 | EYS | c.2738+5A>C (n.2738+5A>C)
| dbSNP gnomAD v4 |
6 | g.64902399T= | CA1633964732 | EYS | c.2738+5A= (n.2738+5A=)
| |
6 | g.64902400G>T | CA2679287291 | EYS | c.2738+4C>A (n.2738+4C>A)
| gnomAD v4 |
6 | g.64902401T>C | CA568119232 | EYS | c.2738+3A>G (n.2738+3A>G)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.64902401T= | CA1633964733 | EYS | c.2738+3A= (n.2738+3A=)
| |
6 | g.64902402A>C | CA364785801 | EYS | c.2738+2T>G (n.2738+2T>G)
| |
6 | g.64902402A>G | CA364785802 | EYS | c.2738+2T>C (n.2738+2T>C)
| |
6 | g.64902402A>T | CA364785803 | EYS | c.2738+2T>A (n.2738+2T>A)
| |
6 | g.64902403C>A | CA364785805 | EYS | c.2738+1G>T (n.2738+1G>T)
| ClinVar dbSNP COSMIC |
6 | g.64902403C= | CA1633964734 | EYS | c.2738+1G= (n.2738+1G=)
| |
6 | g.64902403C>G | CA364785806 | EYS | c.2738+1G>C (n.2738+1G>C)
| |
6 | g.64902403C>T | CA364785804 | EYS | c.2738+1G>A (n.2738+1G>A)
| ClinVar dbSNP |
6 | g.64902404C>A | CA364785808 | EYS | c.2738G>T (p.Arg913Met)
| |
6 | g.64902404C>G | CA364785807 | EYS | c.2738G>C (p.Arg913Thr)
| |
6 | g.64902404C>T | CA364785809 | EYS | c.2738G>A (p.Arg913Lys)
| gnomAD v4 |
6 | g.64902405T>A | CA364785810 | EYS | c.2737A>T (p.Arg913Trp)
| |
6 | g.64902405T>C | CA364785811 | EYS | c.2737A>G (p.Arg913Gly)
| gnomAD v4 |
6 | g.64902405T>G | CA450763133 | EYS | c.2737A>C (p.Arg913=)
| gnomAD v4 |
6 | g.64902406G>A | CA450763134 | EYS | c.2736C>T (p.Phe912=)
| |
6 | g.64902406G>C | CA364785812 | EYS | c.2736C>G (p.Phe912Leu)
| |
6 | g.64902406G>T | CA364785813 | EYS | c.2736C>A (p.Phe912Leu)
| |
6 | g.64902407A>C | CA364785814 | EYS | c.2735T>G (p.Phe912Cys)
| |
6 | g.64902407A>G | CA364785815 | EYS | c.2735T>C (p.Phe912Ser)
| |
6 | g.64902407A>T | CA364785816 | EYS | c.2735T>A (p.Phe912Tyr)
| |
6 | g.64902408A>C | CA364785817 | EYS | c.2734T>G (p.Phe912Val)
| |
6 | g.64902408A>G | CA364785818 | EYS | c.2734T>C (p.Phe912Leu)
| gnomAD v4 |
6 | g.64902408A>T | CA364785819 | EYS | c.2734T>A (p.Phe912Ile)
| |
6 | g.64902409A= | CA1633964735 | EYS | c.2733T= (p.Asn911=)
| |
6 | g.64902409A>C | CA364785820 | EYS | c.2733T>G (p.Asn911Lys)
| |
6 | g.64902409A>G | CA290803 | EYS | c.2733T>C (p.Asn911=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.64902409A>T | CA364785821 | EYS | c.2733T>A (p.Asn911Lys)
| |
6 | g.64902410T>A | CA364785824 | EYS | c.2732A>T (p.Asn911Ile)
| |
6 | g.64902410T>C | CA364785822 | EYS | c.2732A>G (p.Asn911Ser)
| |
6 | g.64902410T>G | CA364785823 | EYS | c.2732A>C (p.Asn911Thr)
| |
6 | g.64902411T>A | CA364785825 | EYS | c.2731A>T (p.Asn911Tyr)
| |
6 | g.64902411T>C | CA364785826 | EYS | c.2731A>G (p.Asn911Asp)
| dbSNP |
6 | g.64902411T>G | CA364785827 | EYS | c.2731A>C (p.Asn911His)
| |
6 | g.64902411T= | CA1633964736 | EYS | c.2731A= (p.Asn911=)
| |
6 | g.64902412G>A | CA450763135 | EYS | c.2730C>T (p.Asn910=)
| |
6 | g.64902412G>C | CA364785828 | EYS | c.2730C>G (p.Asn910Lys)
| |
6 | g.64902412G>T | CA364785829 | EYS | c.2730C>A (p.Asn910Lys)
| gnomAD v4 |
6 | g.64902413T>A | CA364785830 | EYS | c.2729A>T (p.Asn910Ile)
| |
6 | g.64902413T>C | CA364785831 | EYS | c.2729A>G (p.Asn910Ser)
| |
6 | g.64902413T>G | CA364785832 | EYS | c.2729A>C (p.Asn910Thr)
| |
6 | g.64902414T>A | CA364785833 | EYS | c.2728A>T (p.Asn910Tyr)
| |
6 | g.64902414T>C | CA364785834 | EYS | c.2728A>G (p.Asn910Asp)
| |
6 | g.64902414T>G | CA364785835 | EYS | c.2728A>C (p.Asn910His)
| gnomAD v4 |
6 | g.64902415G>A | CA450763136 | EYS | c.2727C>T (p.Val909=)
| dbSNP COSMIC |
6 | g.64902415G>C | CA450763137 | EYS | c.2727C>G (p.Val909=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.64902415G= | CA1633964738 | EYS | c.2727C= (p.Val909=)
| |
6 | g.64902415G>T | CA450763138 | EYS | c.2727C>A (p.Val909=)
| gnomAD v4 |
6 | g.64902415_64902432delinsGACCATATCTTCACAGTC | CA1633964737 | EYS | c.2710_2727delinsGACTGTGAAGATATGGTC (p.Asp904=)
| |
6 | g.64902416A= | CA1633964739 | EYS | c.2726T= (p.Val909=)
| |
6 | g.64902416A>C | CA364785837 | EYS | c.2726T>G (p.Val909Gly)
| |
6 | g.64902416A>G | CA364785836 | EYS | c.2726T>C (p.Val909Ala)
| |
6 | g.64902416A>T | CA364785838 | EYS | c.2726T>A (p.Val909Asp)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.64902422_64902438del | CA10575464 | EYS | c.2710_2726del (p.Asp904GlnfsTer17)
| ClinVar dbSNP |
6 | g.64902417C>A | CA364785839 | EYS | c.2725G>T (p.Val909Phe)
| |
6 | g.64902417C>G | CA364785840 | EYS | c.2725G>C (p.Val909Leu)
| |
6 | g.64902417C>T | CA364785841 | EYS | c.2725G>A (p.Val909Ile)
| |
6 | g.64902418C>A | CA364785842 | EYS | c.2724G>T (p.Met908Ile)
| |
6 | g.64902418C>G | CA364785843 | EYS | c.2724G>C (p.Met908Ile)
| |
6 | g.64902418C>T | CA364785844 | EYS | c.2724G>A (p.Met908Ile)
| |
6 | g.64902419A= | CA1633964740 | EYS | c.2723T= (p.Met908=)
| |
6 | g.64902419A>C | CA364785845 | EYS | c.2723T>G (p.Met908Arg)
| |
6 | g.64902419A>G | CA364785846 | EYS | c.2723T>C (p.Met908Thr)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.64902419A>T | CA364785847 | EYS | c.2723T>A (p.Met908Lys)
| |
6 | g.64902420T>A | CA364785848 | EYS | c.2722A>T (p.Met908Leu)
| |
6 | g.64902420T>C | CA140379041 | EYS | c.2722A>G (p.Met908Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.64902420T>G | CA364785849 | EYS | c.2722A>C (p.Met908Leu)
| gnomAD v4 |
6 | g.64902420T= | CA1633964741 | EYS | c.2722A= (p.Met908=)
| |
6 | g.64902421A= | CA1633964742 | EYS | c.2721T= (p.Asp907=)
| |
6 | g.64902421A>C | CA364785851 | EYS | c.2721T>G (p.Asp907Glu)
| gnomAD v4 |
6 | g.64902421A>G | CA450763139 | EYS | c.2721T>C (p.Asp907=)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.64902421A>T | CA364785850 | EYS | c.2721T>A (p.Asp907Glu)
| COSMIC |
6 | g.64902422T>A | CA364785852 | EYS | c.2720A>T (p.Asp907Val)
| gnomAD v4 |
6 | g.64902422T>C | CA364785853 | EYS | c.2720A>G (p.Asp907Gly)
| dbSNP |
6 | g.64902422T>G | CA364785854 | EYS | c.2720A>C (p.Asp907Ala)
| |
6 | g.64902422T= | CA1633964743 | EYS | c.2720A= (p.Asp907=)
| |
6 | g.64902423C>A | CA364785855 | EYS | c.2719G>T (p.Asp907Tyr)
| dbSNP gnomAD v4 |
6 | g.64902423C= | CA1633964744 | EYS | c.2719G= (p.Asp907=)
| |
6 | g.64902423C>G | CA364785856 | EYS | c.2719G>C (p.Asp907His)
| |
6 | g.64902423C>T | CA364785857 | EYS | c.2719G>A (p.Asp907Asn)
| gnomAD v4 |
6 | g.64902424T>A | CA364785858 | EYS | c.2718A>T (p.Glu906Asp)
| |
6 | g.64902424T>C | CA450763140 | EYS | c.2718A>G (p.Glu906=)
| ClinVar dbSNP gnomAD v4 |
6 | g.64902424T>G | CA364785859 | EYS | c.2718A>C (p.Glu906Asp)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.64902424T= | CA1633964745 | EYS | c.2718A= (p.Glu906=)
| |
6 | g.64902425T>A | CA364785860 | EYS | c.2717A>T (p.Glu906Val)
| |
6 | g.64902425T>C | CA364785861 | EYS | c.2717A>G (p.Glu906Gly)
| |
6 | g.64902425T>G | CA364785862 | EYS | c.2717A>C (p.Glu906Ala)
| |
6 | g.64902426C>A | CA364785863 | EYS | c.2716G>T (p.Glu906Ter)
| ClinVar dbSNP |
6 | g.64902426C= | CA1633964746 | EYS | c.2716G= (p.Glu906=)
| |
6 | g.64902426C>G | CA364785864 | EYS | c.2716G>C (p.Glu906Gln)
| |
6 | g.64902426C>T | CA364785865 | EYS | c.2716G>A (p.Glu906Lys)
| |
6 | g.64902428_64902429del | CA2580617285 | EYS | c.2715_2716del (p.Cys905Ter)
| ClinVar dbSNP |
6 | g.64902427A>C | CA364785866 | EYS | c.2715T>G (p.Cys905Trp)
| |
6 | g.64902427A>G | CA450763141 | EYS | c.2715T>C (p.Cys905=)
| COSMIC |
6 | g.64902427A>T | CA364785867 | EYS | c.2715T>A (p.Cys905Ter)
| |
6 | g.64902428C>A | CA364785868 | EYS | c.2714G>T (p.Cys905Phe)
| |
6 | g.64902428C= | CA1633964747 | EYS | c.2714G= (p.Cys905=)
| |
6 | g.64902428C>G | CA364785869 | EYS | c.2714G>C (p.Cys905Ser)
| |
6 | g.64902428C>T | CA364785870 | EYS | c.2714G>A (p.Cys905Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.64902429A>C | CA364785871 | EYS | c.2713T>G (p.Cys905Gly)
| |
6 | g.64902429A>G | CA364785872 | EYS | c.2713T>C (p.Cys905Arg)
| |
6 | g.64902429A>T | CA364785873 | EYS | c.2713T>A (p.Cys905Ser)
| |
6 | g.64902430del | CA2528041740 | EYS | c.2712del (p.Cys905ValfsTer?)
| |
6 | g.64902430G>A | CA450763142 | EYS | c.2712C>T (p.Asp904=)
| dbSNP |
6 | g.64902430G>C | CA364785875 | EYS | c.2712C>G (p.Asp904Glu)
| |
6 | g.64902430G= | CA1633964748 | EYS | c.2712C= (p.Asp904=)
| |
6 | g.64902430G>T | CA364785874 | EYS | c.2712C>A (p.Asp904Glu)
| |
6 | g.64902431T>A | CA364785876 | EYS | c.2711A>T (p.Asp904Val)
| |
6 | g.64902431T>C | CA364785877 | EYS | c.2711A>G (p.Asp904Gly)
| |
6 | g.64902431T>G | CA364785878 | EYS | c.2711A>C (p.Asp904Ala)
| |
6 | g.64902432C>A | CA364785879 | EYS | c.2710G>T (p.Asp904Tyr)
| COSMIC |
6 | g.64902432C>G | CA364785880 | EYS | c.2710G>C (p.Asp904His)
| |
6 | g.64902432C>T | CA364785881 | EYS | c.2710G>A (p.Asp904Asn)
| |
6 | g.64902433A>C | CA450763143 | EYS | c.2709T>G (p.Gly903=)
| |
6 | g.64902433A>G | CA450763144 | EYS | c.2709T>C (p.Gly903=)
| gnomAD v4 |
6 | g.64902433A>T | CA450763145 | EYS | c.2709T>A (p.Gly903=)
| |
6 | g.64902434C>A | CA364785883 | EYS | c.2708G>T (p.Gly903Val)
| dbSNP |
6 | g.64902434C= | CA1633964749 | EYS | c.2708G= (p.Gly903=)
| |
6 | g.64902434C>G | CA364785882 | EYS | c.2708G>C (p.Gly903Ala)
| |
6 | g.64902434C>T | CA3877256 | EYS | c.2708G>A (p.Gly903Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64902435C>A | CA364785884 | EYS | c.2707G>T (p.Gly903Cys)
| |
6 | g.64902435C>G | CA364785885 | EYS | c.2707G>C (p.Gly903Arg)
| |
6 | g.64902435C>T | CA364785886 | EYS | c.2707G>A (p.Gly903Ser)
| |
6 | g.64902436A= | CA1633964750 | EYS | c.2706T= (p.Tyr902=)
| |
6 | g.64902436A>C | CA364785887 | EYS | c.2706T>G (p.Tyr902Ter)
| ClinVar |
6 | g.64902436A>G | CA450763146 | EYS | c.2706T>C (p.Tyr902=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.64902436A>T | CA364785888 | EYS | c.2706T>A (p.Tyr902Ter)
| |
6 | g.64902437T>A | CA364785889 | EYS | c.2705A>T (p.Tyr902Phe)
| |
6 | g.64902437T>C | CA364785890 | EYS | c.2705A>G (p.Tyr902Cys)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.64902437T>G | CA364785891 | EYS | c.2705A>C (p.Tyr902Ser)
| |
6 | g.64902437T= | CA1633964751 | EYS | c.2705A= (p.Tyr902=)
| |
6 | g.64902438A>C | CA364785892 | EYS | c.2704T>G (p.Tyr902Asp)
| |
6 | g.64902438A>G | CA364785893 | EYS | c.2704T>C (p.Tyr902His)
| |
6 | g.64902438A>T | CA364785894 | EYS | c.2704T>A (p.Tyr902Asn)
| |
6 | g.64902439dup | CA2695198260 | EYS | c.2704dup (p.Tyr902LeufsTer3)
| ClinVar |
6 | g.64902439A>C | CA364785895 | EYS | c.2703T>G (p.Asp901Glu)
| |
6 | g.64902439A>G | CA450763147 | EYS | c.2703T>C (p.Asp901=)
| |
6 | g.64902439A>T | CA364785896 | EYS | c.2703T>A (p.Asp901Glu)
| gnomAD v4 |
6 | g.64902440T>A | CA364785897 | EYS | c.2702A>T (p.Asp901Val)
| |
6 | g.64902440T>C | CA364785899 | EYS | c.2702A>G (p.Asp901Gly)
| |
6 | g.64902440T>G | CA364785898 | EYS | c.2702A>C (p.Asp901Ala)
| |
6 | g.64902441C>A | CA364785900 | EYS | c.2701G>T (p.Asp901Tyr)
| |
6 | g.64902441C>G | CA364785901 | EYS | c.2701G>C (p.Asp901His)
| |
6 | g.64902441C>T | CA364785902 | EYS | c.2701G>A (p.Asp901Asn)
| gnomAD v4 |
6 | g.64902442C>A | CA364785903 | EYS | c.2700G>T (p.Gln900His)
| |
6 | g.64902442C= | CA1633964752 | EYS | c.2700G= (p.Gln900=)
| |
6 | g.64902442C>G | CA364785904 | EYS | c.2700G>C (p.Gln900His)
| |
6 | g.64902442C>T | CA450763148 | EYS | c.2700G>A (p.Gln900=)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.64902443T>A | CA364785905 | EYS | c.2699A>T (p.Gln900Leu)
| |
6 | g.64902443T>C | CA364785906 | EYS | c.2699A>G (p.Gln900Arg)
| gnomAD v4 |
6 | g.64902443T>G | CA364785907 | EYS | c.2699A>C (p.Gln900Pro)
| |
6 | g.64902444G>A | CA364785908 | EYS | c.2698C>T (p.Gln900Ter)
| gnomAD v4 COSMIC |
6 | g.64902444G>C | CA364785909 | EYS | c.2698C>G (p.Gln900Glu)
| |
6 | g.64902444G>T | CA364785910 | EYS | c.2698C>A (p.Gln900Lys)
| gnomAD v4 COSMIC |
6 | g.64902445G>A | CA450763149 | EYS | c.2697C>T (p.Cys899=)
| dbSNP COSMIC |
6 | g.64902445G>C | CA364785911 | EYS | c.2697C>G (p.Cys899Trp)
| |
6 | g.64902445G= | CA1633964753 | EYS | c.2697C= (p.Cys899=)
| |
6 | g.64902445G>T | CA364785912 | EYS | c.2697C>A (p.Cys899Ter)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.64902446C>A | CA364785915 | EYS | c.2696G>T (p.Cys899Phe)
| |
6 | g.64902446C>G | CA364785913 | EYS | c.2696G>C (p.Cys899Ser)
| |
6 | g.64902446C>T | CA364785914 | EYS | c.2696G>A (p.Cys899Tyr)
| gnomAD v4 |
6 | g.64902447A>C | CA364785916 | EYS | c.2695T>G (p.Cys899Gly)
| |
6 | g.64902447A>G | CA364785917 | EYS | c.2695T>C (p.Cys899Arg)
| |
6 | g.64902447A>T | CA364785918 | EYS | c.2695T>A (p.Cys899Ser)
| |
6 | g.64902448G>A | CA450763150 | EYS | c.2694C>T (p.Ser898=)
| gnomAD v4 |
6 | g.64902448G>C | CA450763151 | EYS | c.2694C>G (p.Ser898=)
| |
6 | g.64902448G>T | CA450763152 | EYS | c.2694C>A (p.Ser898=)
| |
6 | g.64902449del | CA2573141023 | EYS | c.2694del (p.Cys899AlafsTer?)
| ClinVar dbSNP |
6 | g.64902449G>A | CA364785919 | EYS | c.2693C>T (p.Ser898Phe)
| gnomAD v4 COSMIC |
6 | g.64902449G>C | CA364785920 | EYS | c.2693C>G (p.Ser898Cys)
| |
6 | g.64902449G>T | CA364785921 | EYS | c.2693C>A (p.Ser898Tyr)
| |
6 | g.64902450A>C | CA364785922 | EYS | c.2692T>G (p.Ser898Ala)
| |
6 | g.64902450A>G | CA364785923 | EYS | c.2692T>C (p.Ser898Pro)
| |
6 | g.64902450A>T | CA364785924 | EYS | c.2692T>A (p.Ser898Thr)
| |
6 | g.64902451A>C | CA450763153 | EYS | c.2691T>G (p.Leu897=)
| |
6 | g.64902451A>G | CA450763154 | EYS | c.2691T>C (p.Leu897=)
| |
6 | g.64902451A>T | CA450763155 | EYS | c.2691T>A (p.Leu897=)
| |
6 | g.64902452A= | CA1633964754 | EYS | c.2690T= (p.Leu897=)
| |
6 | g.64902452A>C | CA364785925 | EYS | c.2690T>G (p.Leu897Arg)
| |
6 | g.64902452A>G | CA364785926 | EYS | c.2690T>C (p.Leu897Pro)
| dbSNP gnomAD v4 |
6 | g.64902452A>T | CA364785927 | EYS | c.2690T>A (p.Leu897His)
| gnomAD v4 |
6 | g.64902453G>A | CA140379042 | EYS | c.2689C>T (p.Leu897Phe)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.64902453G>C | CA364785929 | EYS | c.2689C>G (p.Leu897Val)
| |
6 | g.64902453G= | CA1633964755 | EYS | c.2689C= (p.Leu897=)
| |
6 | g.64902453G>T | CA364785928 | EYS | c.2689C>A (p.Leu897Ile)
| gnomAD v4 |
6 | g.64902454G>A | CA140379043 | EYS | c.2688C>T (p.Phe896=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.64902454G>C | CA364785931 | EYS | c.2688C>G (p.Phe896Leu)
| |
6 | g.64902454G= | CA1633964756 | EYS | c.2688C= (p.Phe896=)
| |
6 | g.64902454G>T | CA364785930 | EYS | c.2688C>A (p.Phe896Leu)
| |
6 | g.64902455A>C | CA364785933 | EYS | c.2687T>G (p.Phe896Cys)
| |
6 | g.64902455A>G | CA364785932 | EYS | c.2687T>C (p.Phe896Ser)
| |
6 | g.64902455A>T | CA364785934 | EYS | c.2687T>A (p.Phe896Tyr)
| gnomAD v4 |
6 | g.64902456A>C | CA364785935 | EYS | c.2686T>G (p.Phe896Val)
| |
6 | g.64902456A>G | CA364785937 | EYS | c.2686T>C (p.Phe896Leu)
| |
6 | g.64902456A>T | CA364785936 | EYS | c.2686T>A (p.Phe896Ile)
| gnomAD v4 |
6 | g.64902457G>A | CA450763156 | EYS | c.2685C>T (p.Leu895=)
| dbSNP |
6 | g.64902457G>C | CA450763157 | EYS | c.2685C>G (p.Leu895=)
| |
6 | g.64902457G= | CA1633964757 | EYS | c.2685C= (p.Leu895=)
| |
6 | g.64902457G>T | CA450763158 | EYS | c.2685C>A (p.Leu895=)
| gnomAD v4 |
6 | g.64902458A>C | CA364785938 | EYS | c.2684T>G (p.Leu895Arg)
| |
6 | g.64902458A>G | CA364785940 | EYS | c.2684T>C (p.Leu895Pro)
| |
6 | g.64902458A>T | CA364785939 | EYS | c.2684T>A (p.Leu895His)
| gnomAD v4 |
6 | g.64902459G>A | CA364785941 | EYS | c.2683C>T (p.Leu895Phe)
| gnomAD v4 |
6 | g.64902459G>C | CA364785942 | EYS | c.2683C>G (p.Leu895Val)
| |
6 | g.64902459G>T | CA364785943 | EYS | c.2683C>A (p.Leu895Ile)
| COSMIC |
6 | g.64902460G>A | CA450763159 | EYS | c.2682C>T (p.Cys894=)
| gnomAD v4 |
6 | g.64902460G>C | CA364785944 | EYS | c.2682C>G (p.Cys894Trp)
| gnomAD v4 |
6 | g.64902460G>T | CA364785945 | EYS | c.2682C>A (p.Cys894Ter)
| |
6 | g.64902461C>A | CA364785946 | EYS | c.2681G>T (p.Cys894Phe)
| |
6 | g.64902461C= | CA1633964758 | EYS | c.2681G= (p.Cys894=)
| |
6 | g.64902461C>G | CA364785948 | EYS | c.2681G>C (p.Cys894Ser)
| gnomAD v4 |
6 | g.64902461C>T | CA364785949 | EYS | c.2681G>A (p.Cys894Tyr)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.64902462A= | CA1633964759 | EYS | c.2680T= (p.Cys894=)
| |
6 | g.64902462A>C | CA364785950 | EYS | c.2680T>G (p.Cys894Gly)
| |
6 | g.64902462A>G | CA364785951 | EYS | c.2680T>C (p.Cys894Arg)
| gnomAD v4 |
6 | g.64902462A>T | CA364785952 | EYS | c.2680T>A (p.Cys894Ser)
| |
6 | g.64902463G>A | CA450763160 | EYS | c.2679C>T (p.Asp893=)
| |
6 | g.64902463G>C | CA364785954 | EYS | c.2679C>G (p.Asp893Glu)
| dbSNP gnomAD v4 |
6 | g.64902463G= | CA1633964761 | EYS | c.2679C= (p.Asp893=)
| |
6 | g.64902463G>T | CA364785953 | EYS | c.2679C>A (p.Asp893Glu)
| dbSNP gnomAD v4 |
6 | g.64902463_64902464insCCG | CA1633964760 | EYS | c.2679_2680insGGC (p.Asp893_Cys894insGly)
| dbSNP |
6 | g.64902464T>A | CA364785955 | EYS | c.2678A>T (p.Asp893Val)
| COSMIC |
6 | g.64902464T>C | CA364785956 | EYS | c.2678A>G (p.Asp893Gly)
| |
6 | g.64902464T>G | CA364785957 | EYS | c.2678A>C (p.Asp893Ala)
| |
6 | g.64902465C>A | CA364785958 | EYS | c.2677G>T (p.Asp893Tyr)
| gnomAD v4 COSMIC |
6 | g.64902465C>G | CA364785959 | EYS | c.2677G>C (p.Asp893His)
| |
6 | g.64902465C>T | CA364785960 | EYS | c.2677G>A (p.Asp893Asn)
| ClinVar gnomAD v4 |
6 | g.64902466T>A | CA364785961 | EYS | c.2676A>T (p.Lys892Asn)
| |
6 | g.64902466T>C | CA450763161 | EYS | c.2676A>G (p.Lys892=)
| |
6 | g.64902466T>G | CA364785962 | EYS | c.2676A>C (p.Lys892Asn)
| |
6 | g.64902467T>A | CA364785963 | EYS | c.2675A>T (p.Lys892Ile)
| |
6 | g.64902467T>C | CA364785964 | EYS | c.2675A>G (p.Lys892Arg)
| |
6 | g.64902467T>G | CA364785965 | EYS | c.2675A>C (p.Lys892Thr)
| |
6 | g.64902468T>A | CA364785967 | EYS | c.2674A>T (p.Lys892Ter)
| |
6 | g.64902468T>C | CA364785968 | EYS | c.2674A>G (p.Lys892Glu)
| |
6 | g.64902468T>G | CA364785966 | EYS | c.2674A>C (p.Lys892Gln)
| |
6 | g.64902469C>A | CA450763162 | EYS | c.2673G>T (p.Val891=)
| |
6 | g.64902469C>G | CA450763163 | EYS | c.2673G>C (p.Val891=)
| |
6 | g.64902469C>T | CA450763164 | EYS | c.2673G>A (p.Val891=)
| ClinVar dbSNP |
6 | g.64902470A= | CA1633964762 | EYS | c.2672T= (p.Val891=)
| |
6 | g.64902470A>C | CA364785969 | EYS | c.2672T>G (p.Val891Gly)
| gnomAD v4 |
6 | g.64902470A>G | CA364785970 | EYS | c.2672T>C (p.Val891Ala)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.64902470A>T | CA364785971 | EYS | c.2672T>A (p.Val891Glu)
| |
6 | g.64902471C>A | CA364785972 | EYS | c.2671G>T (p.Val891Leu)
| |
6 | g.64902471C= | CA1633964763 | EYS | c.2671G= (p.Val891=)
| |
6 | g.64902471C>G | CA364785973 | EYS | c.2671G>C (p.Val891Leu)
| |
6 | g.64902471C>T | CA140379044 | EYS | c.2671G>A (p.Val891Met)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.64902472A>C | CA364785974 | EYS | c.2670T>G (p.Asp890Glu)
| |
6 | g.64902472A>G | CA450763165 | EYS | c.2670T>C (p.Asp890=)
| gnomAD v4 |
6 | g.64902472A>T | CA364785975 | EYS | c.2670T>A (p.Asp890Glu)
| |
6 | g.64902473T>A | CA364785976 | EYS | c.2669A>T (p.Asp890Val)
| |
6 | g.64902473T>C | CA364785977 | EYS | c.2669A>G (p.Asp890Gly)
| dbSNP |
6 | g.64902473T>G | CA364785978 | EYS | c.2669A>C (p.Asp890Ala)
| |
6 | g.64902473T= | CA1633964764 | EYS | c.2669A= (p.Asp890=)
| |
6 | g.64902474C>A | CA364785979 | EYS | c.2668G>T (p.Asp890Tyr)
| gnomAD v4 |
6 | g.64902474C>G | CA364785980 | EYS | c.2668G>C (p.Asp890His)
| |
6 | g.64902474C>T | CA364785981 | EYS | c.2668G>A (p.Asp890Asn)
| |
6 | g.64902475A= | CA1633964765 | EYS | c.2667T= (p.Ile889=)
| |
6 | g.64902475A>C | CA364785982 | EYS | c.2667T>G (p.Ile889Met)
| |
6 | g.64902475A>G | CA450763166 | EYS | c.2667T>C (p.Ile889=)
| |
6 | g.64902475A>T | CA450763167 | EYS | c.2667T>A (p.Ile889=)
| dbSNP |
6 | g.64902476A>C | CA364785983 | EYS | c.2666T>G (p.Ile889Ser)
| |
6 | g.64902476A>G | CA364785984 | EYS | c.2666T>C (p.Ile889Thr)
| gnomAD v4 |
6 | g.64902476A>T | CA364785985 | EYS | c.2666T>A (p.Ile889Asn)
| |
6 | g.64902477T>A | CA364785986 | EYS | c.2665A>T (p.Ile889Phe)
| |
6 | g.64902477T>C | CA364785987 | EYS | c.2665A>G (p.Ile889Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64902477T>G | CA364785988 | EYS | c.2665A>C (p.Ile889Leu)
| |
6 | g.64902477T= | CA1633964766 | EYS | c.2665A= (p.Ile889=)
| |
6 | g.64902478T>A | CA364785989 | EYS | c.2664A>T (p.Glu888Asp)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.64902478T>C | CA450763168 | EYS | c.2664A>G (p.Glu888=)
| |
6 | g.64902478T>G | CA364785990 | EYS | c.2664A>C (p.Glu888Asp)
| |
6 | g.64902478T= | CA1633964767 | EYS | c.2664A= (p.Glu888=)
| |
6 | g.64902479T>A | CA364785991 | EYS | c.2663A>T (p.Glu888Val)
| |
6 | g.64902479T>C | CA364785992 | EYS | c.2663A>G (p.Glu888Gly)
| |
6 | g.64902479T>G | CA364785993 | EYS | c.2663A>C (p.Glu888Ala)
| |
6 | g.64902480C>A | CA364785994 | EYS | c.2662G>T (p.Glu888Ter)
| |
6 | g.64902480C= | CA1633964768 | EYS | c.2662G= (p.Glu888=)
| |
6 | g.64902480C>G | CA364785995 | EYS | c.2662G>C (p.Glu888Gln)
| |
6 | g.64902480C>T | CA364785996 | EYS | c.2662G>A (p.Glu888Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.64902481A>C | CA364785997 | EYS | c.2661T>G (p.Cys887Trp)
| |
6 | g.64902481A>G | CA450763169 | EYS | c.2661T>C (p.Cys887=)
| |
6 | g.64902481A>T | CA364785998 | EYS | c.2661T>A (p.Cys887Ter)
| gnomAD v4 |
6 | g.64902482C>A | CA364785999 | EYS | c.2660G>T (p.Cys887Phe)
| |
6 | g.64902482C= | CA1633964769 | EYS | c.2660G= (p.Cys887=)
| |
6 | g.64902482C>G | CA364786000 | EYS | c.2660G>C (p.Cys887Ser)
| |
6 | g.64902482C>T | CA364786001 | EYS | c.2660G>A (p.Cys887Tyr)
| dbSNP |
6 | g.64902483A>C | CA364786002 | EYS | c.2659T>G (p.Cys887Gly)
| |
6 | g.64902483A>G | CA364786003 | EYS | c.2659T>C (p.Cys887Arg)
| |
6 | g.64902483A>T | CA364786004 | EYS | c.2659T>A (p.Cys887Ser)
| |
6 | g.64902484G>A | CA450763170 | EYS | c.2658C>T (p.Asn886=)
| |
6 | g.64902484G>C | CA364786005 | EYS | c.2658C>G (p.Asn886Lys)
| |
6 | g.64902484G>T | CA364786006 | EYS | c.2658C>A (p.Asn886Lys)
| |
6 | g.64902485T>A | CA364786007 | EYS | c.2657A>T (p.Asn886Ile)
| |
6 | g.64902485T>C | CA364786008 | EYS | c.2657A>G (p.Asn886Ser)
| |
6 | g.64902485T>G | CA364786009 | EYS | c.2657A>C (p.Asn886Thr)
| |
6 | g.64902489del | CA2679287292 | EYS | c.2657del (p.Asn886ThrfsTer6)
| ClinVar gnomAD v4 |
6 | g.64902486_64902489del | CA2771486884 | EYS | c.2654_2657del (p.Lys885ThrfsTer6)
| |
6 | g.64902486T>A | CA364786010 | EYS | c.2656A>T (p.Asn886Tyr)
| |
6 | g.64902486T>C | CA364786011 | EYS | c.2656A>G (p.Asn886Asp)
| |
6 | g.64902486T>G | CA364786012 | EYS | c.2656A>C (p.Asn886His)
| |
6 | g.64902487T>A | CA364786014 | EYS | c.2655A>T (p.Lys885Asn)
| |
6 | g.64902487T>C | CA450763171 | EYS | c.2655A>G (p.Lys885=)
| |
6 | g.64902487T>G | CA364786013 | EYS | c.2655A>C (p.Lys885Asn)
| |
6 | g.64902488T>A | CA364786015 | EYS | c.2654A>T (p.Lys885Ile)
| |
6 | g.64902488T>C | CA364786016 | EYS | c.2654A>G (p.Lys885Arg)
| dbSNP gnomAD v4 |
6 | g.64902488T>G | CA364786017 | EYS | c.2654A>C (p.Lys885Thr)
| |
6 | g.64902488T= | CA1633964770 | EYS | c.2654A= (p.Lys885=)
| |
6 | g.64902489T>A | CA364786018 | EYS | c.2653A>T (p.Lys885Ter)
| |
6 | g.64902489T>C | CA364786019 | EYS | c.2653A>G (p.Lys885Glu)
| |
6 | g.64902489T>G | CA364786020 | EYS | c.2653A>C (p.Lys885Gln)
| |
6 | g.64902489T= | CA1633964771 | EYS | c.2653A= (p.Lys885=)
| |
6 | g.64902490A>C | CA450763175 | EYS | c.2652T>G (p.Gly884=)
| gnomAD v4 |
6 | g.64902490A>G | CA450763174 | EYS | c.2652T>C (p.Gly884=)
| |
6 | g.64902490A>T | CA450763173 | EYS | c.2652T>A (p.Gly884=)
| |
6 | g.64902490dup | CA916082868 | EYS | c.2652dup (p.Lys885Ter)
| ClinVar dbSNP gnomAD v3 |
6 | g.64902491C>A | CA364786023 | EYS | c.2651G>T (p.Gly884Val)
| |
6 | g.64902491C>G | CA364786021 | EYS | c.2651G>C (p.Gly884Ala)
| |
6 | g.64902491C>T | CA364786022 | EYS | c.2651G>A (p.Gly884Asp)
| ClinVar |
6 | g.64902492_64902495del | CA2771486885 | EYS | c.2648_2651del (p.Glu883ValfsTer8)
| |