6 | g.64230601_64230612del | CA2679283466 | EYS | c.6404_6415del (p.Thr2135_Cys2139delinsSer)
| ClinVar gnomAD v4 |
6 | g.64230605G>A | CA450758752 | EYS | c.6411C>T (p.Arg2137=)
| |
6 | g.64230605G>C | CA450758751 | EYS | c.6411C>G (p.Arg2137=)
| |
6 | g.64230605G>T | CA450758750 | EYS | c.6411C>A (p.Arg2137=)
| |
6 | g.64230606C>A | CA364391165 | EYS | c.6410G>T (p.Arg2137Leu)
| gnomAD v4 |
6 | g.64230606C= | CA1633626630 | EYS | c.6410G= (p.Arg2137=)
| |
6 | g.64230606C>G | CA364391166 | EYS | c.6410G>C (p.Arg2137Pro)
| |
6 | g.64230606C>T | CA140296089 | EYS | c.6410G>A (p.Arg2137His)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64230607G>A | CA3876922 | EYS | c.6409C>T (p.Arg2137Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64230607G>C | CA364391167 | EYS | c.6409C>G (p.Arg2137Gly)
| |
6 | g.64230607G= | CA1633626631 | EYS | c.6409C= (p.Arg2137=)
| |
6 | g.64230607G>T | CA364391168 | EYS | c.6409C>A (p.Arg2137Ser)
| |
6 | g.64230608G>A | CA450758753 | EYS | c.6408C>T (p.Gly2136=)
| ClinVar |
6 | g.64230608G>C | CA450758754 | EYS | c.6408C>G (p.Gly2136=)
| gnomAD v4 |
6 | g.64230608G>T | CA450758755 | EYS | c.6408C>A (p.Gly2136=)
| |
6 | g.64230609C>A | CA364391169 | EYS | c.6407G>T (p.Gly2136Val)
| |
6 | g.64230609C= | CA1633626632 | EYS | c.6407G= (p.Gly2136=)
| |
6 | g.64230609C>G | CA364391170 | EYS | c.6407G>C (p.Gly2136Ala)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.64230609C>T | CA364391171 | EYS | c.6407G>A (p.Gly2136Asp)
| gnomAD v4 |
6 | g.64230610C>A | CA364391173 | EYS | c.6406G>T (p.Gly2136Cys)
| |
6 | g.64230610C>G | CA364391174 | EYS | c.6406G>C (p.Gly2136Arg)
| |
6 | g.64230610C>T | CA364391172 | EYS | c.6406G>A (p.Gly2136Ser)
| |
6 | g.64230611A= | CA1633626633 | EYS | c.6405T= (p.Thr2135=)
| |
6 | g.64230611A>C | CA450758757 | EYS | c.6405T>G (p.Thr2135=)
| |
6 | g.64230611A>G | CA450758758 | EYS | c.6405T>C (p.Thr2135=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64230611A>T | CA450758759 | EYS | c.6405T>A (p.Thr2135=)
| |
6 | g.64230612G>A | CA364391175 | EYS | c.6404C>T (p.Thr2135Ile)
| |
6 | g.64230612G>C | CA364391176 | EYS | c.6404C>G (p.Thr2135Ser)
| |
6 | g.64230612G>T | CA364391177 | EYS | c.6404C>A (p.Thr2135Asn)
| gnomAD v4 |
6 | g.64230613T>A | CA364391178 | EYS | c.6403A>T (p.Thr2135Ser)
| |
6 | g.64230613T>C | CA364391179 | EYS | c.6403A>G (p.Thr2135Ala)
| |
6 | g.64230613T>G | CA364391180 | EYS | c.6403A>C (p.Thr2135Pro)
| |
6 | g.64230614G>A | CA450758760 | EYS | c.6402C>T (p.Phe2134=)
| |
6 | g.64230614G>C | CA364391181 | EYS | c.6402C>G (p.Phe2134Leu)
| |
6 | g.64230614G>T | CA364391182 | EYS | c.6402C>A (p.Phe2134Leu)
| |
6 | g.64230615A>C | CA364391183 | EYS | c.6401T>G (p.Phe2134Cys)
| |
6 | g.64230615A>G | CA364391184 | EYS | c.6401T>C (p.Phe2134Ser)
| |
6 | g.64230615A>T | CA364391185 | EYS | c.6401T>A (p.Phe2134Tyr)
| |
6 | g.64230616A>C | CA364391186 | EYS | c.6400T>G (p.Phe2134Val)
| |
6 | g.64230616A>G | CA364391187 | EYS | c.6400T>C (p.Phe2134Leu)
| |
6 | g.64230616A>T | CA364391188 | EYS | c.6400T>A (p.Phe2134Ile)
| |
6 | g.64230617A>C | CA364391189 | EYS | c.6399T>G (p.His2133Gln)
| |
6 | g.64230617A>G | CA450758761 | EYS | c.6399T>C (p.His2133=)
| |
6 | g.64230617A>T | CA364391190 | EYS | c.6399T>A (p.His2133Gln)
| |
6 | g.64230618T>A | CA364391191 | EYS | c.6398A>T (p.His2133Leu)
| |
6 | g.64230618T>C | CA364391192 | EYS | c.6398A>G (p.His2133Arg)
| gnomAD v4 |
6 | g.64230618T>G | CA364391193 | EYS | c.6398A>C (p.His2133Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64230618T= | CA1633626634 | EYS | c.6398A= (p.His2133=)
| |
6 | g.64230619G>A | CA364391194 | EYS | c.6397C>T (p.His2133Tyr)
| |
6 | g.64230619G>C | CA364391195 | EYS | c.6397C>G (p.His2133Asp)
| |
6 | g.64230619G>T | CA364391196 | EYS | c.6397C>A (p.His2133Asn)
| |
6 | g.64230620T>A | CA450758762 | EYS | c.6396A>T (p.Leu2132=)
| |
6 | g.64230620T>C | CA450758763 | EYS | c.6396A>G (p.Leu2132=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64230620T>G | CA450758764 | EYS | c.6396A>C (p.Leu2132=)
| |
6 | g.64230620T= | CA1633626635 | EYS | c.6396A= (p.Leu2132=)
| |
6 | g.64230621A= | CA1633626636 | EYS | c.6395T= (p.Leu2132=)
| |
6 | g.64230621A>C | CA140296090 | EYS | c.6395T>G (p.Leu2132Arg)
| dbSNP |
6 | g.64230621A>G | CA364391197 | EYS | c.6395T>C (p.Leu2132Pro)
| gnomAD v4 |
6 | g.64230621A>T | CA364391198 | EYS | c.6395T>A (p.Leu2132Gln)
| |
6 | g.64230622G>A | CA3876923 | EYS | c.6394C>T (p.Leu2132=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64230622G>C | CA364391199 | EYS | c.6394C>G (p.Leu2132Val)
| |
6 | g.64230622G= | CA1633626637 | EYS | c.6394C= (p.Leu2132=)
| |
6 | g.64230622G>T | CA364391200 | EYS | c.6394C>A (p.Leu2132Ile)
| |
6 | g.64230623T>A | CA450758765 | EYS | c.6393A>T (p.Pro2131=)
| |
6 | g.64230623T>C | CA450758766 | EYS | c.6393A>G (p.Pro2131=)
| |
6 | g.64230623T>G | CA450758767 | EYS | c.6393A>C (p.Pro2131=)
| |
6 | g.64230627_64230639del | CA2499218441 | EYS | c.6381_6393del (p.Gln2127HisfsTer26)
| ClinVar dbSNP |
6 | g.64230624G>A | CA364391203 | EYS | c.6392C>T (p.Pro2131Leu)
| |
6 | g.64230624G>C | CA364391202 | EYS | c.6392C>G (p.Pro2131Arg)
| |
6 | g.64230624G>T | CA364391201 | EYS | c.6392C>A (p.Pro2131Gln)
| |
6 | g.64230625G>A | CA364391204 | EYS | c.6391C>T (p.Pro2131Ser)
| |
6 | g.64230625G>C | CA364391206 | EYS | c.6391C>G (p.Pro2131Ala)
| |
6 | g.64230625G>T | CA364391205 | EYS | c.6391C>A (p.Pro2131Thr)
| |
6 | g.64230626A>C | CA364391207 | EYS | c.6390T>G (p.Cys2130Trp)
| |
6 | g.64230626A>G | CA450758769 | EYS | c.6390T>C (p.Cys2130=)
| ClinVar gnomAD v4 |
6 | g.64230626A>T | CA364391208 | EYS | c.6390T>A (p.Cys2130Ter)
| |
6 | g.64230627C>A | CA364391209 | EYS | c.6389G>T (p.Cys2130Phe)
| |
6 | g.64230627C= | CA1633626638 | EYS | c.6389G= (p.Cys2130=)
| |
6 | g.64230627C>G | CA140296091 | EYS | c.6389G>C (p.Cys2130Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64230627C>T | CA364391210 | EYS | c.6389G>A (p.Cys2130Tyr)
| |
6 | g.64230628A>C | CA364391211 | EYS | c.6388T>G (p.Cys2130Gly)
| |
6 | g.64230628A>G | CA364391212 | EYS | c.6388T>C (p.Cys2130Arg)
| |
6 | g.64230628A>T | CA364391213 | EYS | c.6388T>A (p.Cys2130Ser)
| |
6 | g.64230629G>A | CA450758770 | EYS | c.6387C>T (p.Asp2129=)
| |
6 | g.64230629G>C | CA364391214 | EYS | c.6387C>G (p.Asp2129Glu)
| |
6 | g.64230629G>T | CA364391215 | EYS | c.6387C>A (p.Asp2129Glu)
| COSMIC |
6 | g.64230630T>A | CA364391216 | EYS | c.6386A>T (p.Asp2129Val)
| |
6 | g.64230630T>C | CA364391217 | EYS | c.6386A>G (p.Asp2129Gly)
| gnomAD v4 |
6 | g.64230630T>G | CA364391218 | EYS | c.6386A>C (p.Asp2129Ala)
| |
6 | g.64230631C>A | CA364391219 | EYS | c.6385G>T (p.Asp2129Tyr)
| |
6 | g.64230631C>G | CA364391220 | EYS | c.6385G>C (p.Asp2129His)
| gnomAD v4 |
6 | g.64230631C>T | CA364391221 | EYS | c.6385G>A (p.Asp2129Asn)
| |
6 | g.64230632A>C | CA364391222 | EYS | c.6384T>G (p.Cys2128Trp)
| |
6 | g.64230632A>G | CA450758771 | EYS | c.6384T>C (p.Cys2128=)
| |
6 | g.64230632A>T | CA364391223 | EYS | c.6384T>A (p.Cys2128Ter)
| |
6 | g.64230633C>A | CA364391225 | EYS | c.6383G>T (p.Cys2128Phe)
| |
6 | g.64230633C= | CA1633626639 | EYS | c.6383G= (p.Cys2128=)
| |
6 | g.64230633C>G | CA364391224 | EYS | c.6383G>C (p.Cys2128Ser)
| |
6 | g.64230633C>T | CA140296092 | EYS | c.6383G>A (p.Cys2128Tyr)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.64230634A= | CA1633626640 | EYS | c.6382T= (p.Cys2128=)
| |
6 | g.64230634A>C | CA364391226 | EYS | c.6382T>G (p.Cys2128Gly)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.64230634A>G | CA364391227 | EYS | c.6382T>C (p.Cys2128Arg)
| ClinVar dbSNP |
6 | g.64230634A>T | CA364391228 | EYS | c.6382T>A (p.Cys2128Ser)
| |
6 | g.64230634dup | CA2840991401 | EYS | c.6382dup (p.Cys2128LeufsTer2)
| |
6 | g.64230635T>A | CA364391229 | EYS | c.6381A>T (p.Gln2127His)
| |
6 | g.64230635T>C | CA140296093 | EYS | c.6381A>G (p.Gln2127=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64230635T>G | CA364391230 | EYS | c.6381A>C (p.Gln2127His)
| |
6 | g.64230635T= | CA1633626641 | EYS | c.6381A= (p.Gln2127=)
| |
6 | g.64230636T>A | CA364391231 | EYS | c.6380A>T (p.Gln2127Leu)
| |
6 | g.64230636T>C | CA364391232 | EYS | c.6380A>G (p.Gln2127Arg)
| |
6 | g.64230636T>G | CA364391233 | EYS | c.6380A>C (p.Gln2127Pro)
| |
6 | g.64230637G>A | CA364391234 | EYS | c.6379C>T (p.Gln2127Ter)
| |
6 | g.64230637G>C | CA364391235 | EYS | c.6379C>G (p.Gln2127Glu)
| COSMIC |
6 | g.64230637G>T | CA364391236 | EYS | c.6379C>A (p.Gln2127Lys)
| |
6 | g.64230638G>A | CA450758773 | EYS | c.6378C>T (p.Phe2126=)
| gnomAD v4 |
6 | g.64230638G>C | CA140296094 | EYS | c.6378C>G (p.Phe2126Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64230638G= | CA1633626642 | EYS | c.6378C= (p.Phe2126=)
| |
6 | g.64230638G>T | CA364391237 | EYS | c.6378C>A (p.Phe2126Leu)
| |
6 | g.64230639A= | CA1633626643 | EYS | c.6377T= (p.Phe2126=)
| |
6 | g.64230639A>C | CA364391238 | EYS | c.6377T>G (p.Phe2126Cys)
| |
6 | g.64230639A>G | CA364391239 | EYS | c.6377T>C (p.Phe2126Ser)
| |
6 | g.64230639A>T | CA364391240 | EYS | c.6377T>A (p.Phe2126Tyr)
| |
6 | g.64230640A>C | CA364391241 | EYS | c.6376T>G (p.Phe2126Val)
| |
6 | g.64230640A>G | CA364391242 | EYS | c.6376T>C (p.Phe2126Leu)
| dbSNP |
6 | g.64230640A>T | CA364391243 | EYS | c.6376T>A (p.Phe2126Ile)
| |
6 | g.64230643_64230650dup | CA1139659651 | EYS | c.6369_6376dup (p.Phe2126Ter)
| ClinVar dbSNP |
6 | g.64230641T>A | CA450758774 | EYS | c.6375A>T (p.Ser2125=)
| |
6 | g.64230641T>C | CA450758775 | EYS | c.6375A>G (p.Ser2125=)
| |
6 | g.64230641T>G | CA450758776 | EYS | c.6375A>C (p.Ser2125=)
| |
6 | g.64230642G>A | CA364391244 | EYS | c.6374C>T (p.Ser2125Leu)
| |
6 | g.64230642G>C | CA3876924 | EYS | c.6374C>G (p.Ser2125Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.64230642G= | CA1633626644 | EYS | c.6374C= (p.Ser2125=)
| |
6 | g.64230642G>T | CA364391245 | EYS | c.6374C>A (p.Ser2125Ter)
| gnomAD v4 |
6 | g.64230643A>C | CA364391246 | EYS | c.6373T>G (p.Ser2125Ala)
| |
6 | g.64230643A>G | CA364391247 | EYS | c.6373T>C (p.Ser2125Pro)
| gnomAD v4 |
6 | g.64230643A>T | CA364391248 | EYS | c.6373T>A (p.Ser2125Thr)
| |
6 | g.64230644C>A | CA450758778 | EYS | c.6372G>T (p.Val2124=)
| gnomAD v4 |
6 | g.64230644C= | CA1633626645 | EYS | c.6372G= (p.Val2124=)
| |
6 | g.64230644C>G | CA450758779 | EYS | c.6372G>C (p.Val2124=)
| |
6 | g.64230644C>T | CA450758781 | EYS | c.6372G>A (p.Val2124=)
| ClinVar dbSNP |
6 | g.64230645A>C | CA364391250 | EYS | c.6371T>G (p.Val2124Gly)
| ClinVar |
6 | g.64230645A>G | CA364391251 | EYS | c.6371T>C (p.Val2124Ala)
| |
6 | g.64230645A>T | CA364391249 | EYS | c.6371T>A (p.Val2124Glu)
| |
6 | g.64230646C>A | CA364391252 | EYS | c.6370G>T (p.Val2124Leu)
| |
6 | g.64230646C= | CA1633626646 | EYS | c.6370G= (p.Val2124=)
| |
6 | g.64230646C>G | CA364391253 | EYS | c.6370G>C (p.Val2124Leu)
| |
6 | g.64230646C>T | CA140296095 | EYS | c.6370G>A (p.Val2124Met)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
6 | g.64230647T>A | CA450758782 | EYS | c.6369A>T (p.Ile2123=)
| |
6 | g.64230647T>C | CA364391254 | EYS | c.6369A>G (p.Ile2123Met)
| |
6 | g.64230647T>G | CA450758783 | EYS | c.6369A>C (p.Ile2123=)
| |
6 | g.64230648A>C | CA364391257 | EYS | c.6368T>G (p.Ile2123Arg)
| |
6 | g.64230648A>G | CA364391256 | EYS | c.6368T>C (p.Ile2123Thr)
| gnomAD v4 |
6 | g.64230648A>T | CA364391255 | EYS | c.6368T>A (p.Ile2123Lys)
| |
6 | g.64230649T>A | CA364391258 | EYS | c.6367A>T (p.Ile2123Leu)
| |
6 | g.64230649T>C | CA364391259 | EYS | c.6367A>G (p.Ile2123Val)
| |
6 | g.64230649T>G | CA364391260 | EYS | c.6367A>C (p.Ile2123Leu)
| |
6 | g.64230650G>A | CA450758784 | EYS | c.6366C>T (p.Gly2122=)
| |
6 | g.64230650G>C | CA450758785 | EYS | c.6366C>G (p.Gly2122=)
| |
6 | g.64230650G>T | CA450758786 | EYS | c.6366C>A (p.Gly2122=)
| |
6 | g.64230651C>A | CA3876925 | EYS | c.6365G>T (p.Gly2122Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64230651C= | CA1633626647 | EYS | c.6365G= (p.Gly2122=)
| |
6 | g.64230651C>G | CA364391261 | EYS | c.6365G>C (p.Gly2122Ala)
| |
6 | g.64230651C>T | CA364391262 | EYS | c.6365G>A (p.Gly2122Asp)
| |
6 | g.64230652C>A | CA364391263 | EYS | c.6364G>T (p.Gly2122Cys)
| |
6 | g.64230652C>G | CA364391265 | EYS | c.6364G>C (p.Gly2122Arg)
| |
6 | g.64230652C>T | CA364391264 | EYS | c.6364G>A (p.Gly2122Ser)
| |
6 | g.64230653A>C | CA364391266 | EYS | c.6363T>G (p.Ser2121Arg)
| |
6 | g.64230653A>G | CA450758787 | EYS | c.6363T>C (p.Ser2121=)
| ClinVar dbSNP gnomAD v4 |
6 | g.64230653A>T | CA364391267 | EYS | c.6363T>A (p.Ser2121Arg)
| |
6 | g.64230654C>A | CA364391268 | EYS | c.6362G>T (p.Ser2121Ile)
| |
6 | g.64230654C>G | CA364391269 | EYS | c.6362G>C (p.Ser2121Thr)
| |
6 | g.64230654C>T | CA364391270 | EYS | c.6362G>A (p.Ser2121Asn)
| |
6 | g.64230655T>A | CA364391273 | EYS | c.6361A>T (p.Ser2121Cys)
| |
6 | g.64230655T>C | CA364391272 | EYS | c.6361A>G (p.Ser2121Gly)
| dbSNP |
6 | g.64230655T>G | CA364391271 | EYS | c.6361A>C (p.Ser2121Arg)
| |
6 | g.64230655T= | CA1633626648 | EYS | c.6361A= (p.Ser2121=)
| |
6 | g.64230656G>A | CA450758789 | EYS | c.6360C>T (p.Ser2120=)
| gnomAD v4 |
6 | g.64230656G>C | CA450758790 | EYS | c.6360C>G (p.Ser2120=)
| |
6 | g.64230656G>T | CA450758788 | EYS | c.6360C>A (p.Ser2120=)
| |
6 | g.64230657dup | CA2679283467 | EYS | c.6360dup (p.Ser2121GlnfsTer9)
| gnomAD v4 |
6 | g.64230657del | CA2711909845 | EYS | c.6360del (p.Ser2121ValfsTer3)
| dbSNP |
6 | g.64230657G>A | CA364391274 | EYS | c.6359C>T (p.Ser2120Phe)
| |
6 | g.64230657G>C | CA364391275 | EYS | c.6359C>G (p.Ser2120Cys)
| |
6 | g.64230657G>T | CA364391276 | EYS | c.6359C>A (p.Ser2120Tyr)
| |
6 | g.64230657_64230663delinsGAGAGGA | CA1633626649 | EYS | c.6353_6359delinsTCCTCTC (p.Phe2118=)
| |
6 | g.64230658A>C | CA364391277 | EYS | c.6358T>G (p.Ser2120Ala)
| |
6 | g.64230658A>G | CA364391278 | EYS | c.6358T>C (p.Ser2120Pro)
| |
6 | g.64230658A>T | CA364391279 | EYS | c.6358T>A (p.Ser2120Thr)
| COSMIC |
6 | g.64230661_64230666del | CA1089830951 | EYS | c.6353_6358del (p.Phe2118_Leu2119del)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.64230659G>A | CA450758793 | EYS | c.6357C>T (p.Leu2119=)
| ClinVar dbSNP |
6 | g.64230659G>C | CA450758791 | EYS | c.6357C>G (p.Leu2119=)
| |
6 | g.64230659G>T | CA450758792 | EYS | c.6357C>A (p.Leu2119=)
| |
6 | g.64230660A>C | CA364391282 | EYS | c.6356T>G (p.Leu2119Arg)
| |
6 | g.64230660A>G | CA364391280 | EYS | c.6356T>C (p.Leu2119Pro)
| |
6 | g.64230660A>T | CA364391281 | EYS | c.6356T>A (p.Leu2119His)
| |
6 | g.64230661G>A | CA364391283 | EYS | c.6355C>T (p.Leu2119Phe)
| dbSNP gnomAD v2 |
6 | g.64230661G>C | CA364391284 | EYS | c.6355C>G (p.Leu2119Val)
| |
6 | g.64230661G= | CA1633626650 | EYS | c.6355C= (p.Leu2119=)
| |
6 | g.64230661G>T | CA364391285 | EYS | c.6355C>A (p.Leu2119Ile)
| gnomAD v4 |
6 | g.64230662G>A | CA450758794 | EYS | c.6354C>T (p.Phe2118=)
| dbSNP gnomAD v4 |
6 | g.64230662G>C | CA364391286 | EYS | c.6354C>G (p.Phe2118Leu)
| |
6 | g.64230662G>T | CA364391287 | EYS | c.6354C>A (p.Phe2118Leu)
| |
6 | g.64230663A>C | CA364391288 | EYS | c.6353T>G (p.Phe2118Cys)
| |
6 | g.64230663A>G | CA364391289 | EYS | c.6353T>C (p.Phe2118Ser)
| |
6 | g.64230663A>T | CA364391290 | EYS | c.6353T>A (p.Phe2118Tyr)
| |
6 | g.64230664A= | CA1633626651 | EYS | c.6352T= (p.Phe2118=)
| |
6 | g.64230664A>C | CA364391291 | EYS | c.6352T>G (p.Phe2118Val)
| |
6 | g.64230664A>G | CA364391292 | EYS | c.6352T>C (p.Phe2118Leu)
| gnomAD v4 |
6 | g.64230664A>T | CA364391293 | EYS | c.6352T>A (p.Phe2118Ile)
| dbSNP |
6 | g.64230665G>A | CA450758795 | EYS | c.6351C>T (p.Ile2117=)
| ClinVar |
6 | g.64230665G>C | CA364391294 | EYS | c.6351C>G (p.Ile2117Met)
| |
6 | g.64230665G>T | CA450758796 | EYS | c.6351C>A (p.Ile2117=)
| |
6 | g.64230666A>C | CA364391295 | EYS | c.6350T>G (p.Ile2117Ser)
| |
6 | g.64230666A>G | CA364391297 | EYS | c.6350T>C (p.Ile2117Thr)
| |
6 | g.64230666A>T | CA364391296 | EYS | c.6350T>A (p.Ile2117Asn)
| |
6 | g.64230674_64230678dup | CA2578660042 | EYS | c.6346_6350dup (p.Ile2117MetfsTer9)
| gnomAD v4 |
6 | g.64230667T>A | CA364391298 | EYS | c.6349A>T (p.Ile2117Phe)
| |
6 | g.64230667T>C | CA364391299 | EYS | c.6349A>G (p.Ile2117Val)
| gnomAD v4 |
6 | g.64230667T>G | CA364391300 | EYS | c.6349A>C (p.Ile2117Leu)
| |
6 | g.64230668G>A | CA450758797 | EYS | c.6348C>T (p.Ala2116=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64230668G>C | CA450758798 | EYS | c.6348C>G (p.Ala2116=)
| |
6 | g.64230668G= | CA1633626652 | EYS | c.6348C= (p.Ala2116=)
| |
6 | g.64230668G>T | CA450758799 | EYS | c.6348C>A (p.Ala2116=)
| |
6 | g.64230669G>A | CA364391301 | EYS | c.6347C>T (p.Ala2116Val)
| |
6 | g.64230669G>C | CA364391302 | EYS | c.6347C>G (p.Ala2116Gly)
| gnomAD v4 |
6 | g.64230669G>T | CA364391303 | EYS | c.6347C>A (p.Ala2116Asp)
| |
6 | g.64230670C>A | CA364391304 | EYS | c.6346G>T (p.Ala2116Ser)
| ClinVar dbSNP |
6 | g.64230670C= | CA1633626653 | EYS | c.6346G= (p.Ala2116=)
| |
6 | g.64230670C>G | CA3876926 | EYS | c.6346G>C (p.Ala2116Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.64230670C>T | CA364391305 | EYS | c.6346G>A (p.Ala2116Thr)
| gnomAD v4 |
6 | g.64230671A>C | CA364391306 | EYS | c.6345T>G (p.His2115Gln)
| |
6 | g.64230671A>G | CA450758800 | EYS | c.6345T>C (p.His2115=)
| ClinVar |
6 | g.64230671A>T | CA364391307 | EYS | c.6345T>A (p.His2115Gln)
| |
6 | g.64230672T>A | CA364391309 | EYS | c.6344A>T (p.His2115Leu)
| dbSNP gnomAD v4 |
6 | g.64230672T>C | CA140296096 | EYS | c.6344A>G (p.His2115Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64230672T>G | CA364391308 | EYS | c.6344A>C (p.His2115Pro)
| ClinVar dbSNP |
6 | g.64230672T= | CA1633626654 | EYS | c.6344A= (p.His2115=)
| |
6 | g.64230673G>A | CA364391310 | EYS | c.6343C>T (p.His2115Tyr)
| |
6 | g.64230673G>C | CA364391311 | EYS | c.6343C>G (p.His2115Asp)
| |
6 | g.64230673G>T | CA364391312 | EYS | c.6343C>A (p.His2115Asn)
| |
6 | g.64230674G>A | CA450758801 | EYS | c.6342C>T (p.Cys2114=)
| gnomAD v4 |
6 | g.64230674G>C | CA364391313 | EYS | c.6342C>G (p.Cys2114Trp)
| |
6 | g.64230674G>T | CA364391314 | EYS | c.6342C>A (p.Cys2114Ter)
| |
6 | g.64230675C>A | CA364391315 | EYS | c.6341G>T (p.Cys2114Phe)
| |
6 | g.64230675C>G | CA364391316 | EYS | c.6341G>C (p.Cys2114Ser)
| |
6 | g.64230675C>T | CA364391317 | EYS | c.6341G>A (p.Cys2114Tyr)
| |
6 | g.64230676A>C | CA364391318 | EYS | c.6340T>G (p.Cys2114Gly)
| gnomAD v4 |
6 | g.64230676A>G | CA364391319 | EYS | c.6340T>C (p.Cys2114Arg)
| |
6 | g.64230676A>T | CA364391320 | EYS | c.6340T>A (p.Cys2114Ser)
| |
6 | g.64230677T>A | CA450758802 | EYS | c.6339A>T (p.Thr2113=)
| |
6 | g.64230677T>C | CA3876927 | EYS | c.6339A>G (p.Thr2113=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.64230677T>G | CA450758803 | EYS | c.6339A>C (p.Thr2113=)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.64230677T= | CA1633626655 | EYS | c.6339A= (p.Thr2113=)
| |
6 | g.64230678G>A | CA364391323 | EYS | c.6338C>T (p.Thr2113Ile)
| |
6 | g.64230678G>C | CA364391322 | EYS | c.6338C>G (p.Thr2113Arg)
| dbSNP |
6 | g.64230678G= | CA1633626656 | EYS | c.6338C= (p.Thr2113=)
| |
6 | g.64230678G>T | CA364391321 | EYS | c.6338C>A (p.Thr2113Lys)
| gnomAD v4 |
6 | g.64230679T>A | CA364391324 | EYS | c.6337A>T (p.Thr2113Ser)
| gnomAD v4 |
6 | g.64230679T>C | CA364391326 | EYS | c.6337A>G (p.Thr2113Ala)
| |
6 | g.64230679T>G | CA364391325 | EYS | c.6337A>C (p.Thr2113Pro)
| |
6 | g.64230680G>A | CA450758804 | EYS | c.6336C>T (p.Gly2112=)
| |
6 | g.64230680G>C | CA450758805 | EYS | c.6336C>G (p.Gly2112=)
| |
6 | g.64230680G>T | CA450758806 | EYS | c.6336C>A (p.Gly2112=)
| |
6 | g.64230681C>A | CA364391327 | EYS | c.6335G>T (p.Gly2112Val)
| |
6 | g.64230681C>G | CA364391329 | EYS | c.6335G>C (p.Gly2112Ala)
| |
6 | g.64230681C>T | CA364391328 | EYS | c.6335G>A (p.Gly2112Asp)
| ClinVar |
6 | g.64230682C>A | CA364391330 | EYS | c.6334G>T (p.Gly2112Cys)
| |
6 | g.64230682C>G | CA364391331 | EYS | c.6334G>C (p.Gly2112Arg)
| gnomAD v4 |
6 | g.64230682C>T | CA364391332 | EYS | c.6334G>A (p.Gly2112Ser)
| |
6 | g.64230683T>A | CA450758807 | EYS | c.6333A>T (p.Gly2111=)
| gnomAD v4 |
6 | g.64230683T>C | CA450758809 | EYS | c.6333A>G (p.Gly2111=)
| |
6 | g.64230683T>G | CA450758808 | EYS | c.6333A>C (p.Gly2111=)
| gnomAD v4 |
6 | g.64230684C>A | CA364391333 | EYS | c.6332G>T (p.Gly2111Val)
| |
6 | g.64230684C>G | CA364391334 | EYS | c.6332G>C (p.Gly2111Ala)
| |
6 | g.64230684C>T | CA364391335 | EYS | c.6332G>A (p.Gly2111Glu)
| |
6 | g.64230685C>A | CA364391336 | EYS | c.6331G>T (p.Gly2111Ter)
| |
6 | g.64230685C= | CA1633626657 | EYS | c.6331G= (p.Gly2111=)
| |
6 | g.64230685C>G | CA364391337 | EYS | c.6331G>C (p.Gly2111Arg)
| |
6 | g.64230685C>T | CA364391338 | EYS | c.6331G>A (p.Gly2111Arg)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.64230686A>C | CA364391339 | EYS | c.6330T>G (p.Asn2110Lys)
| |
6 | g.64230686A>G | CA450758810 | EYS | c.6330T>C (p.Asn2110=)
| ClinVar dbSNP gnomAD v4 |
6 | g.64230686A>T | CA364391340 | EYS | c.6330T>A (p.Asn2110Lys)
| gnomAD v4 |
6 | g.64230687T>A | CA364391343 | EYS | c.6329A>T (p.Asn2110Ile)
| |
6 | g.64230687T>C | CA364391341 | EYS | c.6329A>G (p.Asn2110Ser)
| gnomAD v4 |
6 | g.64230687T>G | CA364391342 | EYS | c.6329A>C (p.Asn2110Thr)
| |
6 | g.64230688T>A | CA364391344 | EYS | c.6328A>T (p.Asn2110Tyr)
| |
6 | g.64230688T>C | CA364391345 | EYS | c.6328A>G (p.Asn2110Asp)
| |
6 | g.64230688T>G | CA364391346 | EYS | c.6328A>C (p.Asn2110His)
| |
6 | g.64230689G>A | CA450758811 | EYS | c.6327C>T (p.His2109=)
| dbSNP |
6 | g.64230689G>C | CA364391347 | EYS | c.6327C>G (p.His2109Gln)
| |
6 | g.64230689G= | CA1633626658 | EYS | c.6327C= (p.His2109=)
| |
6 | g.64230689G>T | CA364391348 | EYS | c.6327C>A (p.His2109Gln)
| |
6 | g.64230690T>A | CA364391349 | EYS | c.6326A>T (p.His2109Leu)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.64230690T>C | CA364391350 | EYS | c.6326A>G (p.His2109Arg)
| |
6 | g.64230690T>G | CA364391351 | EYS | c.6326A>C (p.His2109Pro)
| |
6 | g.64230690T= | CA1633626659 | EYS | c.6326A= (p.His2109=)
| |
6 | g.64230691G>A | CA364391352 | EYS | c.6325C>T (p.His2109Tyr)
| |
6 | g.64230691G>C | CA364391353 | EYS | c.6325C>G (p.His2109Asp)
| |
6 | g.64230691G>T | CA364391354 | EYS | c.6325C>A (p.His2109Asn)
| |
6 | g.64230692G>A | CA450758812 | EYS | c.6324C>T (p.Cys2108=)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.64230692G>C | CA364391356 | EYS | c.6324C>G (p.Cys2108Trp)
| |
6 | g.64230692G= | CA1633626660 | EYS | c.6324C= (p.Cys2108=)
| |
6 | g.64230692G>T | CA364391355 | EYS | c.6324C>A (p.Cys2108Ter)
| ClinVar dbSNP gnomAD v4 |
6 | g.64230693C>A | CA364391357 | EYS | c.6323G>T (p.Cys2108Phe)
| |
6 | g.64230693C= | CA1633626661 | EYS | c.6323G= (p.Cys2108=)
| |
6 | g.64230693C>G | CA364391358 | EYS | c.6323G>C (p.Cys2108Ser)
| |
6 | g.64230693C>T | CA3876928 | EYS | c.6323G>A (p.Cys2108Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64230694A= | CA1633626662 | EYS | c.6322T= (p.Cys2108=)
| |
6 | g.64230694A>C | CA364391359 | EYS | c.6322T>G (p.Cys2108Gly)
| |
6 | g.64230694A>G | CA364391360 | EYS | c.6322T>C (p.Cys2108Arg)
| ClinVar dbSNP |
6 | g.64230694A>T | CA364391361 | EYS | c.6322T>A (p.Cys2108Ser)
| |
6 | g.64230695T>A | CA450758813 | EYS | c.6321A>T (p.Val2107=)
| gnomAD v4 |
6 | g.64230695T>C | CA450758814 | EYS | c.6321A>G (p.Val2107=)
| ClinVar |
6 | g.64230695T>G | CA450758815 | EYS | c.6321A>C (p.Val2107=)
| |
6 | g.64230696A>C | CA364391362 | EYS | c.6320T>G (p.Val2107Gly)
| |
6 | g.64230696A>G | CA364391363 | EYS | c.6320T>C (p.Val2107Ala)
| |
6 | g.64230696A>T | CA364391364 | EYS | c.6320T>A (p.Val2107Glu)
| |
6 | g.64230697C>A | CA364391365 | EYS | c.6319G>T (p.Val2107Leu)
| |
6 | g.64230697C= | CA1633626663 | EYS | c.6319G= (p.Val2107=)
| |
6 | g.64230697C>G | CA364391366 | EYS | c.6319G>C (p.Val2107Leu)
| |
6 | g.64230697C>T | CA364391367 | EYS | c.6319G>A (p.Val2107Ile)
| dbSNP gnomAD v4 |
6 | g.64230698A= | CA1633626664 | EYS | c.6318T= (p.Asp2106=)
| |
6 | g.64230698A>C | CA364391369 | EYS | c.6318T>G (p.Asp2106Glu)
| |
6 | g.64230698A>G | CA3876929 | EYS | c.6318T>C (p.Asp2106=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64230698A>T | CA364391368 | EYS | c.6318T>A (p.Asp2106Glu)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.64230699T>A | CA364391370 | EYS | c.6317A>T (p.Asp2106Val)
| |
6 | g.64230699T>C | CA364391371 | EYS | c.6317A>G (p.Asp2106Gly)
| dbSNP |
6 | g.64230699T>G | CA364391372 | EYS | c.6317A>C (p.Asp2106Ala)
| |
6 | g.64230699T= | CA1633626665 | EYS | c.6317A= (p.Asp2106=)
| |
6 | g.64230700C>A | CA3876930 | EYS | c.6316G>T (p.Asp2106Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64230700C= | CA1633626666 | EYS | c.6316G= (p.Asp2106=)
| |
6 | g.64230700C>G | CA364391373 | EYS | c.6316G>C (p.Asp2106His)
| |
6 | g.64230700C>T | CA364391374 | EYS | c.6316G>A (p.Asp2106Asn)
| |
6 | g.64230701C>A | CA364391375 | EYS | c.6315G>T (p.Gln2105His)
| gnomAD v4 COSMIC |
6 | g.64230701C>G | CA364391376 | EYS | c.6315G>C (p.Gln2105His)
| |
6 | g.64230701C>T | CA450758816 | EYS | c.6315G>A (p.Gln2105=)
| gnomAD v4 |
6 | g.64230702T>A | CA364391377 | EYS | c.6314A>T (p.Gln2105Leu)
| gnomAD v4 |
6 | g.64230702T>C | CA364391378 | EYS | c.6314A>G (p.Gln2105Arg)
| |
6 | g.64230702T>G | CA364391379 | EYS | c.6314A>C (p.Gln2105Pro)
| |
6 | g.64230703G>A | CA364391380 | EYS | c.6313C>T (p.Gln2105Ter)
| ClinVar dbSNP |
6 | g.64230703G>C | CA364391381 | EYS | c.6313C>G (p.Gln2105Glu)
| gnomAD v4 |
6 | g.64230703G= | CA1633626667 | EYS | c.6313C= (p.Gln2105=)
| |
6 | g.64230703G>T | CA364391382 | EYS | c.6313C>A (p.Gln2105Lys)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.64230704C>A | CA364391383 | EYS | c.6312G>T (p.Gln2104His)
| |
6 | g.64230704C>G | CA364391384 | EYS | c.6312G>C (p.Gln2104His)
| |
6 | g.64230704C>T | CA450758817 | EYS | c.6312G>A (p.Gln2104=)
| gnomAD v4 |
6 | g.64230705T>A | CA364391385 | EYS | c.6311A>T (p.Gln2104Leu)
| |
6 | g.64230705T>C | CA364391387 | EYS | c.6311A>G (p.Gln2104Arg)
| |
6 | g.64230705T>G | CA364391386 | EYS | c.6311A>C (p.Gln2104Pro)
| |