6 | g.64591391A>C | CA450862991 | EYS | c.4476T>G (p.Ser1492=)
| |
6 | g.64591391A>G | CA450862992 | EYS | c.4476T>C (p.Ser1492=)
| |
6 | g.64591391A>T | CA450862993 | EYS | c.4476T>A (p.Ser1492=)
| |
6 | g.64591392G>A | CA364783241 | EYS | c.4475C>T (p.Ser1492Phe)
| |
6 | g.64591392G>C | CA364783239 | EYS | c.4475C>G (p.Ser1492Cys)
| |
6 | g.64591392G>T | CA364783240 | EYS | c.4475C>A (p.Ser1492Tyr)
| |
6 | g.64591393A>C | CA364783242 | EYS | c.4474T>G (p.Ser1492Ala)
| |
6 | g.64591393A>G | CA364783243 | EYS | c.4474T>C (p.Ser1492Pro)
| |
6 | g.64591393A>T | CA364783244 | EYS | c.4474T>A (p.Ser1492Thr)
| |
6 | g.64591394C>A | CA364783245 | EYS | c.4473G>T (p.Met1491Ile)
| |
6 | g.64591394C>G | CA364783246 | EYS | c.4473G>C (p.Met1491Ile)
| |
6 | g.64591394C>T | CA364783247 | EYS | c.4473G>A (p.Met1491Ile)
| ClinVar gnomAD v4 |
6 | g.64591395A>C | CA364783248 | EYS | c.4472T>G (p.Met1491Arg)
| |
6 | g.64591395A>G | CA364783249 | EYS | c.4472T>C (p.Met1491Thr)
| |
6 | g.64591395A>T | CA364783250 | EYS | c.4472T>A (p.Met1491Lys)
| |
6 | g.64591396T>A | CA364783251 | EYS | c.4471A>T (p.Met1491Leu)
| |
6 | g.64591396T>C | CA364783252 | EYS | c.4471A>G (p.Met1491Val)
| |
6 | g.64591396T>G | CA364783253 | EYS | c.4471A>C (p.Met1491Leu)
| |
6 | g.64591397C>A | CA140340943 | EYS | c.4470G>T (p.Ser1490=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.64591397C= | CA1633809382 | EYS | c.4470G= (p.Ser1490=)
| |
6 | g.64591397C>G | CA450863001 | EYS | c.4470G>C (p.Ser1490=)
| |
6 | g.64591397C>T | CA3877078 | EYS | c.4470G>A (p.Ser1490=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64591398G>A | CA3877079 | EYS | c.4469C>T (p.Ser1490Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
6 | g.64591398G>C | CA364783255 | EYS | c.4469C>G (p.Ser1490Trp)
| |
6 | g.64591398G= | CA1633809383 | EYS | c.4469C= (p.Ser1490=)
| |
6 | g.64591398G>T | CA364783254 | EYS | c.4469C>A (p.Ser1490Ter)
| |
6 | g.64591401_64591408dup | CA2506034580 | EYS | c.4462_4469dup (p.Met1491AlafsTer12)
| |
6 | g.64591399A>C | CA364783256 | EYS | c.4468T>G (p.Ser1490Ala)
| |
6 | g.64591399A>G | CA364783257 | EYS | c.4468T>C (p.Ser1490Pro)
| |
6 | g.64591399A>T | CA364783258 | EYS | c.4468T>A (p.Ser1490Thr)
| |
6 | g.64591400G>A | CA450863013 | EYS | c.4467C>T (p.Pro1489=)
| dbSNP |
6 | g.64591400G>C | CA450863016 | EYS | c.4467C>G (p.Pro1489=)
| |
6 | g.64591400G>T | CA450863020 | EYS | c.4467C>A (p.Pro1489=)
| COSMIC |
6 | g.64591401G>A | CA364783259 | EYS | c.4466C>T (p.Pro1489Leu)
| |
6 | g.64591401G>C | CA364783260 | EYS | c.4466C>G (p.Pro1489Arg)
| ClinVar gnomAD v4 |
6 | g.64591401G>T | CA364783261 | EYS | c.4466C>A (p.Pro1489His)
| COSMIC |
6 | g.64591402G>A | CA364783262 | EYS | c.4465C>T (p.Pro1489Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.64591402G>C | CA364783263 | EYS | c.4465C>G (p.Pro1489Ala)
| |
6 | g.64591402G= | CA1633809384 | EYS | c.4465C= (p.Pro1489=)
| |
6 | g.64591402G>T | CA364783264 | EYS | c.4465C>A (p.Pro1489Thr)
| |
6 | g.64591403G>A | CA140340944 | EYS | c.4464C>T (p.Ser1488=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.64591403G>C | CA364783265 | EYS | c.4464C>G (p.Ser1488Arg)
| |
6 | g.64591403G= | CA1633809385 | EYS | c.4464C= (p.Ser1488=)
| |
6 | g.64591403G>T | CA364783266 | EYS | c.4464C>A (p.Ser1488Arg)
| |
6 | g.64591404C>A | CA364783267 | EYS | c.4463G>T (p.Ser1488Ile)
| |
6 | g.64591404C>G | CA364783268 | EYS | c.4463G>C (p.Ser1488Thr)
| |
6 | g.64591404C>T | CA364783269 | EYS | c.4463G>A (p.Ser1488Asn)
| |
6 | g.64591405T>A | CA364783271 | EYS | c.4462A>T (p.Ser1488Cys)
| |
6 | g.64591405T>C | CA364783272 | EYS | c.4462A>G (p.Ser1488Gly)
| |
6 | g.64591405T>G | CA364783270 | EYS | c.4462A>C (p.Ser1488Arg)
| dbSNP |
6 | g.64591405dup | CA2771478453 | EYS | c.4462dup (p.Ser1488LysfsTer11)
| |
6 | g.64591406G>A | CA450863035 | EYS | c.4461C>T (p.Leu1487=)
| gnomAD v4 |
6 | g.64591406G>C | CA450863037 | EYS | c.4461C>G (p.Leu1487=)
| ClinVar dbSNP |
6 | g.64591406G>T | CA450863038 | EYS | c.4461C>A (p.Leu1487=)
| |
6 | g.64591407A>C | CA364783273 | EYS | c.4460T>G (p.Leu1487Arg)
| |
6 | g.64591407A>G | CA364783274 | EYS | c.4460T>C (p.Leu1487Pro)
| |
6 | g.64591407A>T | CA364783275 | EYS | c.4460T>A (p.Leu1487His)
| |
6 | g.64591408G>A | CA364783276 | EYS | c.4459C>T (p.Leu1487Phe)
| |
6 | g.64591408G>C | CA364783277 | EYS | c.4459C>G (p.Leu1487Val)
| |
6 | g.64591408G>T | CA364783278 | EYS | c.4459C>A (p.Leu1487Ile)
| |
6 | g.64591409C>A | CA364783279 | EYS | c.4458G>T (p.Leu1486Phe)
| |
6 | g.64591409C>G | CA364783280 | EYS | c.4458G>C (p.Leu1486Phe)
| |
6 | g.64591409C>T | CA450863052 | EYS | c.4458G>A (p.Leu1486=)
| ClinVar dbSNP |
6 | g.64591410_64591413del | CA2695198239 | EYS | c.4455_4458del (p.Arg1485SerfsTer14)
| ClinVar |
6 | g.64591410A>C | CA364783281 | EYS | c.4457T>G (p.Leu1486Trp)
| |
6 | g.64591410A>G | CA364783282 | EYS | c.4457T>C (p.Leu1486Ser)
| gnomAD v4 |
6 | g.64591410A>T | CA364783283 | EYS | c.4457T>A (p.Leu1486Ter)
| |
6 | g.64591411A= | CA1633809386 | EYS | c.4456T= (p.Leu1486=)
| |
6 | g.64591411A>C | CA364783284 | EYS | c.4456T>G (p.Leu1486Val)
| dbSNP gnomAD v4 |
6 | g.64591411A>G | CA450863072 | EYS | c.4456T>C (p.Leu1486=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.64591411A>T | CA364783285 | EYS | c.4456T>A (p.Leu1486Met)
| |
6 | g.64591412T>A | CA3877080 | EYS | c.4455A>T (p.Arg1485Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.64591412T>C | CA3877081 | EYS | c.4455A>G (p.Arg1485=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.64591412T>G | CA364783286 | EYS | c.4455A>C (p.Arg1485Ser)
| |
6 | g.64591412T= | CA1633809387 | EYS | c.4455A= (p.Arg1485=)
| |
6 | g.64591413C>A | CA364783287 | EYS | c.4454G>T (p.Arg1485Ile)
| gnomAD v4 |
6 | g.64591413C>G | CA364783288 | EYS | c.4454G>C (p.Arg1485Thr)
| |
6 | g.64591413C>T | CA364783289 | EYS | c.4454G>A (p.Arg1485Lys)
| |
6 | g.64591414T>A | CA364783290 | EYS | c.4453A>T (p.Arg1485Ter)
| |
6 | g.64591414T>C | CA364783291 | EYS | c.4453A>G (p.Arg1485Gly)
| |
6 | g.64591414T>G | CA450863080 | EYS | c.4453A>C (p.Arg1485=)
| |
6 | g.64591415C>A | CA364783292 | EYS | c.4452G>T (p.Trp1484Cys)
| |
6 | g.64591415C= | CA1633809388 | EYS | c.4452G= (p.Trp1484=)
| |
6 | g.64591415C>G | CA364783293 | EYS | c.4452G>C (p.Trp1484Cys)
| |
6 | g.64591415C>T | CA364783294 | EYS | c.4452G>A (p.Trp1484Ter)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.64591416C>A | CA364783295 | EYS | c.4451G>T (p.Trp1484Leu)
| ClinVar gnomAD v4 |
6 | g.64591416C= | CA1633809389 | EYS | c.4451G= (p.Trp1484=)
| |
6 | g.64591416C>G | CA364783296 | EYS | c.4451G>C (p.Trp1484Ser)
| |
6 | g.64591416C>T | CA364783297 | EYS | c.4451G>A (p.Trp1484Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.64591417A= | CA1633809390 | EYS | c.4450T= (p.Trp1484=)
| |
6 | g.64591417A>C | CA364783298 | EYS | c.4450T>G (p.Trp1484Gly)
| |
6 | g.64591417A>G | CA364783300 | EYS | c.4450T>C (p.Trp1484Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64591417A>T | CA364783299 | EYS | c.4450T>A (p.Trp1484Arg)
| |
6 | g.64591418G>A | CA450863095 | EYS | c.4449C>T (p.His1483=)
| |
6 | g.64591418G>C | CA364783301 | EYS | c.4449C>G (p.His1483Gln)
| |
6 | g.64591418G>T | CA364783302 | EYS | c.4449C>A (p.His1483Gln)
| |
6 | g.64591419T>A | CA364783303 | EYS | c.4448A>T (p.His1483Leu)
| |
6 | g.64591419T>C | CA364783305 | EYS | c.4448A>G (p.His1483Arg)
| |
6 | g.64591419T>G | CA364783304 | EYS | c.4448A>C (p.His1483Pro)
| |
6 | g.64591420G>A | CA364783306 | EYS | c.4447C>T (p.His1483Tyr)
| |
6 | g.64591420G>C | CA364783307 | EYS | c.4447C>G (p.His1483Asp)
| |
6 | g.64591420G>T | CA364783308 | EYS | c.4447C>A (p.His1483Asn)
| |
6 | g.64591421C>A | CA364783309 | EYS | c.4446G>T (p.Glu1482Asp)
| |
6 | g.64591421C= | CA1633809391 | EYS | c.4446G= (p.Glu1482=)
| |
6 | g.64591421C>G | CA364783310 | EYS | c.4446G>C (p.Glu1482Asp)
| |
6 | g.64591421C>T | CA450863110 | EYS | c.4446G>A (p.Glu1482=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.64591425_64591426del | CA2679284675 | EYS | c.4445_4446del (p.Glu1482AlafsTer16)
| gnomAD v4 |
6 | g.64591422T>A | CA364783311 | EYS | c.4445A>T (p.Glu1482Val)
| |
6 | g.64591422T>C | CA364783312 | EYS | c.4445A>G (p.Glu1482Gly)
| gnomAD v4 |
6 | g.64591422T>G | CA364783313 | EYS | c.4445A>C (p.Glu1482Ala)
| |
6 | g.64591423C>A | CA364783314 | EYS | c.4444G>T (p.Glu1482Ter)
| |
6 | g.64591423C= | CA1633809392 | EYS | c.4444G= (p.Glu1482=)
| |
6 | g.64591423C>G | CA364783315 | EYS | c.4444G>C (p.Glu1482Gln)
| |
6 | g.64591423C>T | CA140340945 | EYS | c.4444G>A (p.Glu1482Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64591424T>A | CA364783316 | EYS | c.4443A>T (p.Arg1481Ser)
| |
6 | g.64591424T>C | CA450863120 | EYS | c.4443A>G (p.Arg1481=)
| gnomAD v4 |
6 | g.64591424T>G | CA364783317 | EYS | c.4443A>C (p.Arg1481Ser)
| |
6 | g.64591425C>A | CA364783320 | EYS | c.4442G>T (p.Arg1481Ile)
| gnomAD v4 |
6 | g.64591425C>G | CA364783319 | EYS | c.4442G>C (p.Arg1481Thr)
| |
6 | g.64591425C>T | CA364783318 | EYS | c.4442G>A (p.Arg1481Lys)
| |
6 | g.64591426T>A | CA364783321 | EYS | c.4441A>T (p.Arg1481Ter)
| |
6 | g.64591426T>C | CA364783322 | EYS | c.4441A>G (p.Arg1481Gly)
| |
6 | g.64591426T>G | CA450863124 | EYS | c.4441A>C (p.Arg1481=)
| |
6 | g.64591427T>A | CA364783323 | EYS | c.4440A>T (p.Arg1480Ser)
| |
6 | g.64591427T>C | CA10622586 | EYS | c.4440A>G (p.Arg1480=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.64591427T>G | CA364783324 | EYS | c.4440A>C (p.Arg1480Ser)
| |
6 | g.64591427T= | CA1633809393 | EYS | c.4440A= (p.Arg1480=)
| |
6 | g.64591428C>A | CA364783325 | EYS | c.4439G>T (p.Arg1480Ile)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.64591428C= | CA1633809394 | EYS | c.4439G= (p.Arg1480=)
| |
6 | g.64591428C>G | CA364783326 | EYS | c.4439G>C (p.Arg1480Thr)
| |
6 | g.64591428C>T | CA364783327 | EYS | c.4439G>A (p.Arg1480Lys)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.64591429T>A | CA364783328 | EYS | c.4438A>T (p.Arg1480Ter)
| |
6 | g.64591429T>C | CA3877082 | EYS | c.4438A>G (p.Arg1480Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.64591429T>G | CA450863135 | EYS | c.4438A>C (p.Arg1480=)
| gnomAD v4 |
6 | g.64591429T= | CA1633809395 | EYS | c.4438A= (p.Arg1480=)
| |
6 | g.64591430T>A | CA450863136 | EYS | c.4437A>T (p.Ser1479=)
| |
6 | g.64591430T>C | CA450863138 | EYS | c.4437A>G (p.Ser1479=)
| |
6 | g.64591430T>G | CA450863137 | EYS | c.4437A>C (p.Ser1479=)
| |
6 | g.64591431G>A | CA364783329 | EYS | c.4436C>T (p.Ser1479Leu)
| |
6 | g.64591431G>C | CA364783330 | EYS | c.4436C>G (p.Ser1479Ter)
| |
6 | g.64591431G>T | CA364783331 | EYS | c.4436C>A (p.Ser1479Ter)
| ClinVar |
6 | g.64591432A>C | CA364783333 | EYS | c.4435T>G (p.Ser1479Ala)
| |
6 | g.64591432A>G | CA364783334 | EYS | c.4435T>C (p.Ser1479Pro)
| |
6 | g.64591432A>T | CA364783332 | EYS | c.4435T>A (p.Ser1479Thr)
| |
6 | g.64591433A= | CA1633809396 | EYS | c.4434T= (p.Ile1478=)
| |
6 | g.64591433A>C | CA364783335 | EYS | c.4434T>G (p.Ile1478Met)
| dbSNP |
6 | g.64591433A>G | CA450863149 | EYS | c.4434T>C (p.Ile1478=)
| |
6 | g.64591433A>T | CA450863151 | EYS | c.4434T>A (p.Ile1478=)
| ClinVar |
6 | g.64591434A>C | CA364783336 | EYS | c.4433T>G (p.Ile1478Ser)
| |
6 | g.64591434A>G | CA364783337 | EYS | c.4433T>C (p.Ile1478Thr)
| |
6 | g.64591434A>T | CA364783338 | EYS | c.4433T>A (p.Ile1478Asn)
| |
6 | g.64591435T>A | CA364783339 | EYS | c.4432A>T (p.Ile1478Phe)
| |
6 | g.64591435T>C | CA140340946 | EYS | c.4432A>G (p.Ile1478Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.64591435T>G | CA364783340 | EYS | c.4432A>C (p.Ile1478Leu)
| |
6 | g.64591435T= | CA1633809397 | EYS | c.4432A= (p.Ile1478=)
| |
6 | g.64591436T>A | CA364783341 | EYS | c.4431A>T (p.Leu1477Phe)
| |
6 | g.64591436T>C | CA450863166 | EYS | c.4431A>G (p.Leu1477=)
| |
6 | g.64591436T>G | CA364783342 | EYS | c.4431A>C (p.Leu1477Phe)
| |
6 | g.64591437A>C | CA364783343 | EYS | c.4430T>G (p.Leu1477Ter)
| |
6 | g.64591437A>G | CA364783344 | EYS | c.4430T>C (p.Leu1477Ser)
| COSMIC |
6 | g.64591437A>T | CA364783345 | EYS | c.4430T>A (p.Leu1477Ter)
| |
6 | g.64591438A>C | CA364783347 | EYS | c.4429T>G (p.Leu1477Val)
| |
6 | g.64591438A>G | CA450863178 | EYS | c.4429T>C (p.Leu1477=)
| |
6 | g.64591438A>T | CA364783346 | EYS | c.4429T>A (p.Leu1477Ile)
| |
6 | g.64591439A= | CA1633809398 | EYS | c.4428T= (p.Ser1476=)
| |
6 | g.64591439A>C | CA450863181 | EYS | c.4428T>G (p.Ser1476=)
| dbSNP |
6 | g.64591439A>G | CA450863184 | EYS | c.4428T>C (p.Ser1476=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64591439A>T | CA450863186 | EYS | c.4428T>A (p.Ser1476=)
| |
6 | g.64591440G>A | CA364783348 | EYS | c.4427C>T (p.Ser1476Phe)
| |
6 | g.64591440G>C | CA364783349 | EYS | c.4427C>G (p.Ser1476Cys)
| |
6 | g.64591440G>T | CA364783350 | EYS | c.4427C>A (p.Ser1476Tyr)
| |
6 | g.64591441A= | CA1633809399 | EYS | c.4426T= (p.Ser1476=)
| |
6 | g.64591441A>C | CA364783351 | EYS | c.4426T>G (p.Ser1476Ala)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64591441A>G | CA364783352 | EYS | c.4426T>C (p.Ser1476Pro)
| |
6 | g.64591441A>T | CA3877083 | EYS | c.4426T>A (p.Ser1476Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.64591442A>C | CA364783353 | EYS | c.4425T>G (p.Asp1475Glu)
| |
6 | g.64591442A>G | CA450863195 | EYS | c.4425T>C (p.Asp1475=)
| ClinVar |
6 | g.64591442A>T | CA364783354 | EYS | c.4425T>A (p.Asp1475Glu)
| |
6 | g.64591443T>A | CA364783355 | EYS | c.4424A>T (p.Asp1475Val)
| |
6 | g.64591443T>C | CA364783356 | EYS | c.4424A>G (p.Asp1475Gly)
| |
6 | g.64591443T>G | CA364783357 | EYS | c.4424A>C (p.Asp1475Ala)
| |
6 | g.64591444C>A | CA364783360 | EYS | c.4423G>T (p.Asp1475Tyr)
| |
6 | g.64591444C>G | CA364783359 | EYS | c.4423G>C (p.Asp1475His)
| |
6 | g.64591444C>T | CA364783358 | EYS | c.4423G>A (p.Asp1475Asn)
| |
6 | g.64591445A>C | CA450863201 | EYS | c.4422T>G (p.Ala1474=)
| gnomAD v4 |
6 | g.64591445A>G | CA450863203 | EYS | c.4422T>C (p.Ala1474=)
| ClinVar dbSNP |
6 | g.64591445A>T | CA450863202 | EYS | c.4422T>A (p.Ala1474=)
| ClinVar |
6 | g.64591446G>A | CA364783361 | EYS | c.4421C>T (p.Ala1474Val)
| |
6 | g.64591446G>C | CA364783362 | EYS | c.4421C>G (p.Ala1474Gly)
| gnomAD v4 |
6 | g.64591446G>T | CA364783363 | EYS | c.4421C>A (p.Ala1474Asp)
| |
6 | g.64591447C>A | CA364783364 | EYS | c.4420G>T (p.Ala1474Ser)
| |
6 | g.64591447C= | CA1633809400 | EYS | c.4420G= (p.Ala1474=)
| |
6 | g.64591447C>G | CA364783365 | EYS | c.4420G>C (p.Ala1474Pro)
| |
6 | g.64591447C>T | CA364783366 | EYS | c.4420G>A (p.Ala1474Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64591448T>A | CA450863208 | EYS | c.4419A>T (p.Ser1473=)
| |
6 | g.64591448T>C | CA450863210 | EYS | c.4419A>G (p.Ser1473=)
| |
6 | g.64591448T>G | CA450863212 | EYS | c.4419A>C (p.Ser1473=)
| ClinVar dbSNP |
6 | g.64591448T= | CA1633809401 | EYS | c.4419A= (p.Ser1473=)
| |
6 | g.64591449G>A | CA364783369 | EYS | c.4418C>T (p.Ser1473Leu)
| |
6 | g.64591449G>C | CA364783367 | EYS | c.4418C>G (p.Ser1473Ter)
| |
6 | g.64591449G= | CA1633809402 | EYS | c.4418C= (p.Ser1473=)
| |
6 | g.64591449G>T | CA364783368 | EYS | c.4418C>A (p.Ser1473Ter)
| dbSNP COSMIC |
6 | g.64591450A>C | CA364783370 | EYS | c.4417T>G (p.Ser1473Ala)
| |
6 | g.64591450A>G | CA364783371 | EYS | c.4417T>C (p.Ser1473Pro)
| gnomAD v4 |
6 | g.64591450A>T | CA364783372 | EYS | c.4417T>A (p.Ser1473Thr)
| |
6 | g.64591451A>C | CA364783373 | EYS | c.4416T>G (p.Tyr1472Ter)
| gnomAD v4 |
6 | g.64591451A>G | CA450863222 | EYS | c.4416T>C (p.Tyr1472=)
| |
6 | g.64591451A>T | CA364783374 | EYS | c.4416T>A (p.Tyr1472Ter)
| |
6 | g.64591452T>A | CA364783377 | EYS | c.4415A>T (p.Tyr1472Phe)
| |
6 | g.64591452T>C | CA364783375 | EYS | c.4415A>G (p.Tyr1472Cys)
| |
6 | g.64591452T>G | CA364783376 | EYS | c.4415A>C (p.Tyr1472Ser)
| |
6 | g.64591453A>C | CA364783378 | EYS | c.4414T>G (p.Tyr1472Asp)
| |
6 | g.64591453A>G | CA364783379 | EYS | c.4414T>C (p.Tyr1472His)
| |
6 | g.64591453A>T | CA364783380 | EYS | c.4414T>A (p.Tyr1472Asn)
| |
6 | g.64591454T>A | CA364783381 | EYS | c.4413A>T (p.Glu1471Asp)
| |
6 | g.64591454T>C | CA450863228 | EYS | c.4413A>G (p.Glu1471=)
| ClinVar |
6 | g.64591454T>G | CA364783382 | EYS | c.4413A>C (p.Glu1471Asp)
| |
6 | g.64591455T>A | CA364783383 | EYS | c.4412A>T (p.Glu1471Val)
| |
6 | g.64591455T>C | CA364783384 | EYS | c.4412A>G (p.Glu1471Gly)
| |
6 | g.64591455T>G | CA364783385 | EYS | c.4412A>C (p.Glu1471Ala)
| |
6 | g.64591456C>A | CA364783386 | EYS | c.4411G>T (p.Glu1471Ter)
| |
6 | g.64591456C= | CA1633809403 | EYS | c.4411G= (p.Glu1471=)
| |
6 | g.64591456C>G | CA364783387 | EYS | c.4411G>C (p.Glu1471Gln)
| |
6 | g.64591456C>T | CA364783388 | EYS | c.4411G>A (p.Glu1471Lys)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.64591457T>A | CA364783389 | EYS | c.4410A>T (p.Glu1470Asp)
| |
6 | g.64591457T>C | CA450863231 | EYS | c.4410A>G (p.Glu1470=)
| |
6 | g.64591457T>G | CA364783390 | EYS | c.4410A>C (p.Glu1470Asp)
| |
6 | g.64591458T>A | CA140340947 | EYS | c.4409A>T (p.Glu1470Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.64591458T>C | CA364783392 | EYS | c.4409A>G (p.Glu1470Gly)
| |
6 | g.64591458T>G | CA364783391 | EYS | c.4409A>C (p.Glu1470Ala)
| |
6 | g.64591458T= | CA1633809404 | EYS | c.4409A= (p.Glu1470=)
| |
6 | g.64591459C>A | CA364783393 | EYS | c.4408G>T (p.Glu1470Ter)
| |
6 | g.64591459C= | CA1633809405 | EYS | c.4408G= (p.Glu1470=)
| |
6 | g.64591459C>G | CA364783394 | EYS | c.4408G>C (p.Glu1470Gln)
| |
6 | g.64591459C>T | CA364783395 | EYS | c.4408G>A (p.Glu1470Lys)
| dbSNP gnomAD v4 |
6 | g.64591460A= | CA1633809406 | EYS | c.4407T= (p.Ile1469=)
| |
6 | g.64591460A>C | CA364783396 | EYS | c.4407T>G (p.Ile1469Met)
| |
6 | g.64591460A>G | CA450863239 | EYS | c.4407T>C (p.Ile1469=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.64591460A>T | CA450863240 | EYS | c.4407T>A (p.Ile1469=)
| |
6 | g.64591461A= | CA1633809407 | EYS | c.4406T= (p.Ile1469=)
| |
6 | g.64591461A>C | CA364783397 | EYS | c.4406T>G (p.Ile1469Ser)
| |
6 | g.64591461A>G | CA140340948 | EYS | c.4406T>C (p.Ile1469Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64591461A>T | CA364783398 | EYS | c.4406T>A (p.Ile1469Asn)
| gnomAD v4 |
6 | g.64591462T>A | CA364783399 | EYS | c.4405A>T (p.Ile1469Phe)
| |
6 | g.64591462T>C | CA364783400 | EYS | c.4405A>G (p.Ile1469Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64591462T>G | CA364783401 | EYS | c.4405A>C (p.Ile1469Leu)
| |
6 | g.64591462T= | CA1633809408 | EYS | c.4405A= (p.Ile1469=)
| |
6 | g.64591463A>C | CA364783402 | EYS | c.4404T>G (p.Asp1468Glu)
| |
6 | g.64591463A>G | CA450863245 | EYS | c.4404T>C (p.Asp1468=)
| |
6 | g.64591463A>T | CA364783403 | EYS | c.4404T>A (p.Asp1468Glu)
| |
6 | g.64591464T>A | CA364783406 | EYS | c.4403A>T (p.Asp1468Val)
| gnomAD v4 |
6 | g.64591464T>C | CA364783404 | EYS | c.4403A>G (p.Asp1468Gly)
| ClinVar dbSNP gnomAD v4 |
6 | g.64591464T>G | CA364783405 | EYS | c.4403A>C (p.Asp1468Ala)
| gnomAD v4 |
6 | g.64591464T= | CA1633809409 | EYS | c.4403A= (p.Asp1468=)
| |
6 | g.64591465C>A | CA364783407 | EYS | c.4402G>T (p.Asp1468Tyr)
| ClinVar dbSNP gnomAD v4 |
6 | g.64591465C= | CA1633809410 | EYS | c.4402G= (p.Asp1468=)
| |
6 | g.64591465C>G | CA242645 | EYS | c.4402G>C (p.Asp1468His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64591465C>T | CA364783408 | EYS | c.4402G>A (p.Asp1468Asn)
| |
6 | g.64591465_64591472dup | CA270054 | EYS | c.4395_4402dup (p.Asp1468ValfsTer13)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.64591466C>A | CA364783409 | EYS | c.4401G>T (p.Glu1467Asp)
| dbSNP |
6 | g.64591466C= | CA1633809411 | EYS | c.4401G= (p.Glu1467=)
| |
6 | g.64591466C>G | CA364783410 | EYS | c.4401G>C (p.Glu1467Asp)
| |
6 | g.64591466C>T | CA450863254 | EYS | c.4401G>A (p.Glu1467=)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.64591467T>A | CA364783411 | EYS | c.4400A>T (p.Glu1467Val)
| gnomAD v4 |
6 | g.64591467T>C | CA140340949 | EYS | c.4400A>G (p.Glu1467Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.64591467T>G | CA364783412 | EYS | c.4400A>C (p.Glu1467Ala)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.64591467T= | CA1633809412 | EYS | c.4400A= (p.Glu1467=)
| |
6 | g.64591468C>A | CA364783413 | EYS | c.4399G>T (p.Glu1467Ter)
| |
6 | g.64591468C= | CA1633809413 | EYS | c.4399G= (p.Glu1467=)
| |
6 | g.64591468C>G | CA364783414 | EYS | c.4399G>C (p.Glu1467Gln)
| |
6 | g.64591468C>T | CA364783415 | EYS | c.4399G>A (p.Glu1467Lys)
| dbSNP gnomAD v4 |
6 | g.64591469T>A | CA364783417 | EYS | c.4398A>T (p.Gln1466His)
| |
6 | g.64591469T>C | CA450863262 | EYS | c.4398A>G (p.Gln1466=)
| |
6 | g.64591469T>G | CA364783416 | EYS | c.4398A>C (p.Gln1466His)
| |
6 | g.64591470T>A | CA364783418 | EYS | c.4397A>T (p.Gln1466Leu)
| |
6 | g.64591470T>C | CA364783420 | EYS | c.4397A>G (p.Gln1466Arg)
| ClinVar gnomAD v4 |
6 | g.64591470T>G | CA364783419 | EYS | c.4397A>C (p.Gln1466Pro)
| |
6 | g.64591471G>A | CA364783421 | EYS | c.4396C>T (p.Gln1466Ter)
| dbSNP gnomAD v2 |
6 | g.64591471G>C | CA364783423 | EYS | c.4396C>G (p.Gln1466Glu)
| |
6 | g.64591471G= | CA1633809414 | EYS | c.4396C= (p.Gln1466=)
| |
6 | g.64591471G>T | CA364783422 | EYS | c.4396C>A (p.Gln1466Lys)
| |
6 | g.64591472A>C | CA450863266 | EYS | c.4395T>G (p.Ala1465=)
| |
6 | g.64591472A>G | CA450863268 | EYS | c.4395T>C (p.Ala1465=)
| |
6 | g.64591472A>T | CA450863269 | EYS | c.4395T>A (p.Ala1465=)
| |
6 | g.64591473G>A | CA364783424 | EYS | c.4394C>T (p.Ala1465Val)
| gnomAD v4 COSMIC |
6 | g.64591473G>C | CA364783425 | EYS | c.4394C>G (p.Ala1465Gly)
| |
6 | g.64591473G= | CA1633809415 | EYS | c.4394C= (p.Ala1465=)
| |
6 | g.64591473G>T | CA364783426 | EYS | c.4394C>A (p.Ala1465Asp)
| ClinVar |
6 | g.64591473dup | CA913111501 | EYS | c.4394dup (p.Gln1466SerfsTer5)
| |
6 | g.64591474C>A | CA364783427 | EYS | c.4393G>T (p.Ala1465Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64591474C= | CA1633809416 | EYS | c.4393G= (p.Ala1465=)
| |
6 | g.64591474C>G | CA364783428 | EYS | c.4393G>C (p.Ala1465Pro)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.64591474C>T | CA140340950 | EYS | c.4393G>A (p.Ala1465Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64591479dup | CA3877084 | EYS | c.4393dup (p.Ala1465GlyfsTer6)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
6 | g.64591479del | CA2679284676 | EYS | c.4393del (p.Ala1465LeufsTer13)
| gnomAD v4 |
6 | g.64591478_64591479del | CA2578660418 | EYS | c.4392_4393del (p.Ala1465SerfsTer5)
| ClinVar |
6 | g.64591475C>A | CA3877085 | EYS | c.4392G>T (p.Gly1464=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.64591475C= | CA1633809417 | EYS | c.4392G= (p.Gly1464=)
| |
6 | g.64591475C>G | CA450863276 | EYS | c.4392G>C (p.Gly1464=)
| ClinVar gnomAD v4 |
6 | g.64591475C>T | CA450863277 | EYS | c.4392G>A (p.Gly1464=)
| |
6 | g.64591476C>A | CA364783429 | EYS | c.4391G>T (p.Gly1464Val)
| gnomAD v4 |
6 | g.64591476C= | CA1633809418 | EYS | c.4391G= (p.Gly1464=)
| |
6 | g.64591476C>G | CA364783430 | EYS | c.4391G>C (p.Gly1464Ala)
| |
6 | g.64591476C>T | CA140340951 | EYS | c.4391G>A (p.Gly1464Glu)
| dbSNP gnomAD v4 |
6 | g.64591476_64591477insT | CA645542553 | EYS | c.4390_4391insA (p.Gly1464GlufsTer7)
| ClinVar dbSNP gnomAD v4 COSMIC |
6 | g.64591477C>A | CA364783433 | EYS | c.4390G>T (p.Gly1464Trp)
| dbSNP gnomAD v4 |
6 | g.64591477C= | CA1633809419 | EYS | c.4390G= (p.Gly1464=)
| |
6 | g.64591477C>G | CA364783432 | EYS | c.4390G>C (p.Gly1464Arg)
| |
6 | g.64591477C>T | CA364783431 | EYS | c.4390G>A (p.Gly1464Arg)
| |
6 | g.64591477_64591485delinsCCCTAGAGA | CA1633809420 | EYS | c.4382_4390delinsTCTCTAGGG (p.Val1461=)
| |
6 | g.64591478C>A | CA364783434 | EYS | c.4389G>T (p.Arg1463Ser)
| dbSNP |
6 | g.64591478C= | CA1633809422 | EYS | c.4389G= (p.Arg1463=)
| |
6 | g.64591478C>G | CA364783435 | EYS | c.4389G>C (p.Arg1463Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64591478C>T | CA3877086 | EYS | c.4389G>A (p.Arg1463=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64591479_64591486del | CA1633809421 | EYS | c.4382_4389del (p.Val1461GlyfsTer7)
| dbSNP |
6 | g.64591479C>A | CA364783436 | EYS | c.4388G>T (p.Arg1463Met)
| gnomAD v4 |
6 | g.64591479C>G | CA364783437 | EYS | c.4388G>C (p.Arg1463Thr)
| |
6 | g.64591479C>T | CA364783438 | EYS | c.4388G>A (p.Arg1463Lys)
| |
6 | g.64591479_64591480delinsCT | CA1633809423 | EYS | c.4387_4388delinsAG (p.Arg1463=)
| |
6 | g.64591480del | CA270053 | EYS | c.4387del (p.Arg1463GlyfsTer15)
| ClinVar dbSNP |
6 | g.64591480T>A | CA364783439 | EYS | c.4387A>T (p.Arg1463Trp)
| |
6 | g.64591480T>C | CA364783440 | EYS | c.4387A>G (p.Arg1463Gly)
| COSMIC |
6 | g.64591480T>G | CA450863280 | EYS | c.4387A>C (p.Arg1463=)
| ClinVar |
6 | g.64591480T= | CA1633809424 | EYS | c.4387A= (p.Arg1463=)
| |
6 | g.64591481A>C | CA450863284 | EYS | c.4386T>G (p.Ser1462=)
| |
6 | g.64591481A>G | CA450863285 | EYS | c.4386T>C (p.Ser1462=)
| COSMIC |
6 | g.64591481A>T | CA450863286 | EYS | c.4386T>A (p.Ser1462=)
| |
6 | g.64591482_64591483insGCAG | CA568119152 | EYS | c.4386_4387insGCCT (p.Arg1463AlafsTer2)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.64591482G>A | CA364783441 | EYS | c.4385C>T (p.Ser1462Phe)
| gnomAD v4 |
6 | g.64591482G>C | CA364783442 | EYS | c.4385C>G (p.Ser1462Cys)
| |
6 | g.64591482G>T | CA364783443 | EYS | c.4385C>A (p.Ser1462Tyr)
| |
6 | g.64591483A>C | CA364783446 | EYS | c.4384T>G (p.Ser1462Ala)
| |
6 | g.64591483A>G | CA364783445 | EYS | c.4384T>C (p.Ser1462Pro)
| |
6 | g.64591483A>T | CA364783444 | EYS | c.4384T>A (p.Ser1462Thr)
| |
6 | g.64591484G>A | CA450863288 | EYS | c.4383C>T (p.Val1461=)
| ClinVar gnomAD v4 |
6 | g.64591484G>C | CA450863289 | EYS | c.4383C>G (p.Val1461=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64591484G= | CA1633809425 | EYS | c.4383C= (p.Val1461=)
| |
6 | g.64591484G>T | CA450863290 | EYS | c.4383C>A (p.Val1461=)
| COSMIC |
6 | g.64591485A>C | CA364783447 | EYS | c.4382T>G (p.Val1461Gly)
| |
6 | g.64591485A>G | CA364783448 | EYS | c.4382T>C (p.Val1461Ala)
| |
6 | g.64591485A>T | CA364783449 | EYS | c.4382T>A (p.Val1461Asp)
| |
6 | g.64591486C>A | CA364783450 | EYS | c.4381G>T (p.Val1461Phe)
| dbSNP gnomAD v4 |
6 | g.64591486C= | CA1633809426 | EYS | c.4381G= (p.Val1461=)
| |
6 | g.64591486C>G | CA364783451 | EYS | c.4381G>C (p.Val1461Leu)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.64591486C>T | CA140340952 | EYS | c.4381G>A (p.Val1461Ile)
| dbSNP gnomAD v4 |
6 | g.64591487A= | CA1633809427 | EYS | c.4380T= (p.Val1460=)
| |
6 | g.64591487A>C | CA450863293 | EYS | c.4380T>G (p.Val1460=)
| |
6 | g.64591487A>G | CA450863294 | EYS | c.4380T>C (p.Val1460=)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.64591487A>T | CA450863295 | EYS | c.4380T>A (p.Val1460=)
| ClinVar dbSNP |
6 | g.64591488dup | CA2679284677 | EYS | c.4380dup (p.Val1461CysfsTer3)
| gnomAD v4 |
6 | g.64591488A>C | CA364783452 | EYS | c.4379T>G (p.Val1460Gly)
| |
6 | g.64591488A>G | CA364783453 | EYS | c.4379T>C (p.Val1460Ala)
| |
6 | g.64591488A>T | CA364783454 | EYS | c.4379T>A (p.Val1460Asp)
| |
6 | g.64591489C>A | CA364783455 | EYS | c.4378G>T (p.Val1460Phe)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64591489C= | CA1633809428 | EYS | c.4378G= (p.Val1460=)
| |
6 | g.64591489C>G | CA364783456 | EYS | c.4378G>C (p.Val1460Leu)
| |
6 | g.64591489C>T | CA140340953 | EYS | c.4378G>A (p.Val1460Ile)
| dbSNP gnomAD v4 |
6 | g.64591490T>A | CA450863301 | EYS | c.4377A>T (p.Pro1459=)
| |
6 | g.64591490T>C | CA140340954 | EYS | c.4377A>G (p.Pro1459=)
| ClinVar dbSNP gnomAD v4 |
6 | g.64591490T>G | CA450863298 | EYS | c.4377A>C (p.Pro1459=)
| |
6 | g.64591490T= | CA1633809429 | EYS | c.4377A= (p.Pro1459=)
| |
6 | g.64591491G>A | CA364783459 | EYS | c.4376C>T (p.Pro1459Leu)
| |
6 | g.64591491G>C | CA364783458 | EYS | c.4376C>G (p.Pro1459Arg)
| |
6 | g.64591491G>T | CA364783457 | EYS | c.4376C>A (p.Pro1459Gln)
| |