6 | g.64230710C>A | CA450758819 | EYS | c.6306G>T (p.Val2102=)
| |
6 | g.64230710C= | CA1633626670 | EYS | c.6306G= (p.Val2102=)
| |
6 | g.64230710C>G | CA450758820 | EYS | c.6306G>C (p.Val2102=)
| |
6 | g.64230710C>T | CA450758821 | EYS | c.6306G>A (p.Val2102=)
| ClinVar dbSNP gnomAD v4 |
6 | g.64230710_64230725delinsCACAGAGGGTGCTGCA | CA1633626669 | EYS | c.6291_6306delinsTGCAGCACCCTCTGTG (p.Val2097=)
| |
6 | g.64230711A= | CA1633626671 | EYS | c.6305T= (p.Val2102=)
| |
6 | g.64230711A>C | CA364391401 | EYS | c.6305T>G (p.Val2102Gly)
| |
6 | g.64230711A>G | CA364391400 | EYS | c.6305T>C (p.Val2102Ala)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.64230711A>T | CA364391399 | EYS | c.6305T>A (p.Val2102Glu)
| |
6 | g.64230719_64230733del | CA568119119 | EYS | c.6291_6305del (p.Ala2098_Val2102del)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.64230712C>A | CA364391402 | EYS | c.6304G>T (p.Val2102Leu)
| |
6 | g.64230712C= | CA1633626672 | EYS | c.6304G= (p.Val2102=)
| |
6 | g.64230712C>G | CA364391403 | EYS | c.6304G>C (p.Val2102Leu)
| dbSNP |
6 | g.64230712C>T | CA364391404 | EYS | c.6304G>A (p.Val2102Met)
| |
6 | g.64230713A>C | CA450758822 | EYS | c.6303T>G (p.Ser2101=)
| |
6 | g.64230713A>G | CA450758823 | EYS | c.6303T>C (p.Ser2101=)
| |
6 | g.64230713A>T | CA450758824 | EYS | c.6303T>A (p.Ser2101=)
| |
6 | g.64230715_64230716del | CA2695198255 | EYS | c.6302_6303del (p.Ser2101CysfsTer28)
| ClinVar |
6 | g.64230714G>A | CA140296097 | EYS | c.6302C>T (p.Ser2101Phe)
| ClinVar dbSNP gnomAD v4 COSMIC |
6 | g.64230714G>C | CA364391405 | EYS | c.6302C>G (p.Ser2101Cys)
| ClinVar gnomAD v4 |
6 | g.64230714G= | CA1633626673 | EYS | c.6302C= (p.Ser2101=)
| |
6 | g.64230714G>T | CA364391406 | EYS | c.6302C>A (p.Ser2101Tyr)
| |
6 | g.64230715A>C | CA364391407 | EYS | c.6301T>G (p.Ser2101Ala)
| |
6 | g.64230715A>G | CA364391408 | EYS | c.6301T>C (p.Ser2101Pro)
| gnomAD v4 |
6 | g.64230715A>T | CA364391409 | EYS | c.6301T>A (p.Ser2101Thr)
| |
6 | g.64230716G>A | CA450758825 | EYS | c.6300C>T (p.Pro2100=)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.64230716G>C | CA450758826 | EYS | c.6300C>G (p.Pro2100=)
| |
6 | g.64230716G= | CA1633626674 | EYS | c.6300C= (p.Pro2100=)
| |
6 | g.64230716G>T | CA450758827 | EYS | c.6300C>A (p.Pro2100=)
| |
6 | g.64230717G>A | CA364391410 | EYS | c.6299C>T (p.Pro2100Leu)
| |
6 | g.64230717G>C | CA364391411 | EYS | c.6299C>G (p.Pro2100Arg)
| |
6 | g.64230717G>T | CA364391412 | EYS | c.6299C>A (p.Pro2100His)
| gnomAD v4 |
6 | g.64230718G>A | CA364391415 | EYS | c.6298C>T (p.Pro2100Ser)
| dbSNP gnomAD v4 |
6 | g.64230718G>C | CA364391414 | EYS | c.6298C>G (p.Pro2100Ala)
| |
6 | g.64230718G= | CA1633626675 | EYS | c.6298C= (p.Pro2100=)
| |
6 | g.64230718G>T | CA364391413 | EYS | c.6298C>A (p.Pro2100Thr)
| |
6 | g.64230719T>A | CA450758828 | EYS | c.6297A>T (p.Ala2099=)
| |
6 | g.64230719T>C | CA450758830 | EYS | c.6297A>G (p.Ala2099=)
| |
6 | g.64230719T>G | CA450758829 | EYS | c.6297A>C (p.Ala2099=)
| |
6 | g.64230719_64230725dup | CA2679283468 | EYS | c.6291_6297dup (p.Pro2100CysfsTer32)
| gnomAD v4 |
6 | g.64230720G>A | CA364391416 | EYS | c.6296C>T (p.Ala2099Val)
| ClinVar dbSNP gnomAD v4 |
6 | g.64230720G>C | CA364391417 | EYS | c.6296C>G (p.Ala2099Gly)
| dbSNP |
6 | g.64230720G>T | CA364391418 | EYS | c.6296C>A (p.Ala2099Glu)
| gnomAD v4 |
6 | g.64230720_64230721delinsGC | CA1633626676 | EYS | c.6295_6296delinsGC (p.Ala2099=)
| |
6 | g.64230721del | CA568119120 | EYS | c.6295del (p.Ala2099HisfsTer25)
| dbSNP gnomAD v2 |
6 | g.64230721C>A | CA364391419 | EYS | c.6295G>T (p.Ala2099Ser)
| |
6 | g.64230721C>G | CA364391420 | EYS | c.6295G>C (p.Ala2099Pro)
| |
6 | g.64230721C>T | CA364391421 | EYS | c.6295G>A (p.Ala2099Thr)
| gnomAD v4 |
6 | g.64230722T>A | CA450758831 | EYS | c.6294A>T (p.Ala2098=)
| |
6 | g.64230722T>C | CA450758832 | EYS | c.6294A>G (p.Ala2098=)
| |
6 | g.64230722T>G | CA450758833 | EYS | c.6294A>C (p.Ala2098=)
| ClinVar |
6 | g.64230723G>A | CA364391422 | EYS | c.6293C>T (p.Ala2098Val)
| |
6 | g.64230723G>C | CA364391423 | EYS | c.6293C>G (p.Ala2098Gly)
| |
6 | g.64230723G>T | CA364391424 | EYS | c.6293C>A (p.Ala2098Glu)
| |
6 | g.64230724C>A | CA364391425 | EYS | c.6292G>T (p.Ala2098Ser)
| dbSNP COSMIC |
6 | g.64230724C= | CA1633626677 | EYS | c.6292G= (p.Ala2098=)
| |
6 | g.64230724C>G | CA364391426 | EYS | c.6292G>C (p.Ala2098Pro)
| gnomAD v4 |
6 | g.64230724C>T | CA364391427 | EYS | c.6292G>A (p.Ala2098Thr)
| |
6 | g.64230725A>C | CA450758834 | EYS | c.6291T>G (p.Val2097=)
| |
6 | g.64230725A>G | CA450758835 | EYS | c.6291T>C (p.Val2097=)
| |
6 | g.64230725A>T | CA450758836 | EYS | c.6291T>A (p.Val2097=)
| |
6 | g.64230726A= | CA1633626678 | EYS | c.6290T= (p.Val2097=)
| |
6 | g.64230726A>C | CA364391430 | EYS | c.6290T>G (p.Val2097Gly)
| |
6 | g.64230726A>G | CA364391429 | EYS | c.6290T>C (p.Val2097Ala)
| |
6 | g.64230726A>T | CA364391428 | EYS | c.6290T>A (p.Val2097Asp)
| dbSNP |
6 | g.64230727C>A | CA364391431 | EYS | c.6289G>T (p.Val2097Phe)
| |
6 | g.64230727C= | CA1633626679 | EYS | c.6289G= (p.Val2097=)
| |
6 | g.64230727C>G | CA364391432 | EYS | c.6289G>C (p.Val2097Leu)
| ClinVar gnomAD v4 |
6 | g.64230727C>T | CA140296098 | EYS | c.6289G>A (p.Val2097Ile)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64230728A>C | CA450758839 | EYS | c.6288T>G (p.Ser2096=)
| |
6 | g.64230728A>G | CA450758838 | EYS | c.6288T>C (p.Ser2096=)
| |
6 | g.64230728A>T | CA450758837 | EYS | c.6288T>A (p.Ser2096=)
| |
6 | g.64230730_64230731del | CA2580617280 | EYS | c.6287_6288del (p.Ser2096CysfsTer?)
| ClinVar dbSNP |
6 | g.64230729G>A | CA364391433 | EYS | c.6287C>T (p.Ser2096Phe)
| |
6 | g.64230729G>C | CA364391434 | EYS | c.6287C>G (p.Ser2096Cys)
| |
6 | g.64230729G>T | CA364391435 | EYS | c.6287C>A (p.Ser2096Tyr)
| |
6 | g.64230730del | CA2573052723 | EYS | c.6286del (p.Ser2096LeufsTer28)
| ClinVar dbSNP |
6 | g.64230730A>C | CA364391436 | EYS | c.6286T>G (p.Ser2096Ala)
| |
6 | g.64230730A>G | CA364391437 | EYS | c.6286T>C (p.Ser2096Pro)
| |
6 | g.64230730A>T | CA364391438 | EYS | c.6286T>A (p.Ser2096Thr)
| |
6 | g.64230731G>A | CA450758841 | EYS | c.6285C>T (p.Pro2095=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.64230731G>C | CA450758842 | EYS | c.6285C>G (p.Pro2095=)
| |
6 | g.64230731G= | CA1633626680 | EYS | c.6285C= (p.Pro2095=)
| |
6 | g.64230731G>T | CA450758843 | EYS | c.6285C>A (p.Pro2095=)
| |
6 | g.64230732G>A | CA3876931 | EYS | c.6284C>T (p.Pro2095Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64230732G>C | CA364391439 | EYS | c.6284C>G (p.Pro2095Arg)
| |
6 | g.64230732G= | CA1633626681 | EYS | c.6284C= (p.Pro2095=)
| |
6 | g.64230732G>T | CA364391440 | EYS | c.6284C>A (p.Pro2095His)
| dbSNP gnomAD v2 |
6 | g.64230733G>A | CA364391443 | EYS | c.6283C>T (p.Pro2095Ser)
| |
6 | g.64230733G>C | CA364391442 | EYS | c.6283C>G (p.Pro2095Ala)
| |
6 | g.64230733G>T | CA364391441 | EYS | c.6283C>A (p.Pro2095Thr)
| |
6 | g.64230734G>A | CA140296099 | EYS | c.6282C>T (p.Ser2094=)
| ClinVar dbSNP |
6 | g.64230734G>C | CA364391444 | EYS | c.6282C>G (p.Ser2094Arg)
| |
6 | g.64230734G= | CA1633626682 | EYS | c.6282C= (p.Ser2094=)
| |
6 | g.64230734G>T | CA364391445 | EYS | c.6282C>A (p.Ser2094Arg)
| |
6 | g.64230735C>A | CA364391446 | EYS | c.6281G>T (p.Ser2094Ile)
| |
6 | g.64230735C>G | CA364391448 | EYS | c.6281G>C (p.Ser2094Thr)
| |
6 | g.64230735C>T | CA364391447 | EYS | c.6281G>A (p.Ser2094Asn)
| ClinVar dbSNP |
6 | g.64230736T>A | CA364391449 | EYS | c.6280A>T (p.Ser2094Cys)
| |
6 | g.64230736T>C | CA364391451 | EYS | c.6280A>G (p.Ser2094Gly)
| gnomAD v3 gnomAD v4 |
6 | g.64230736T>G | CA364391450 | EYS | c.6280A>C (p.Ser2094Arg)
| |
6 | g.64230737G>A | CA450758844 | EYS | c.6279C>T (p.Val2093=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.64230737G>C | CA450758845 | EYS | c.6279C>G (p.Val2093=)
| |
6 | g.64230737G= | CA1633626683 | EYS | c.6279C= (p.Val2093=)
| |
6 | g.64230737G>T | CA450758847 | EYS | c.6279C>A (p.Val2093=)
| |
6 | g.64230738A= | CA1633626684 | EYS | c.6278T= (p.Val2093=)
| |
6 | g.64230738A>C | CA364391452 | EYS | c.6278T>G (p.Val2093Gly)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.64230738A>G | CA364391453 | EYS | c.6278T>C (p.Val2093Ala)
| |
6 | g.64230738A>T | CA364391454 | EYS | c.6278T>A (p.Val2093Asp)
| |
6 | g.64230739C>A | CA364391455 | EYS | c.6277G>T (p.Val2093Phe)
| |
6 | g.64230739C>G | CA364391456 | EYS | c.6277G>C (p.Val2093Leu)
| gnomAD v4 |
6 | g.64230739C>T | CA364391457 | EYS | c.6277G>A (p.Val2093Ile)
| |
6 | g.64230740A>C | CA450758848 | EYS | c.6276T>G (p.Ser2092=)
| |
6 | g.64230740A>G | CA450758849 | EYS | c.6276T>C (p.Ser2092=)
| ClinVar gnomAD v4 |
6 | g.64230740A>T | CA450758850 | EYS | c.6276T>A (p.Ser2092=)
| |
6 | g.64230741G>A | CA364391458 | EYS | c.6275C>T (p.Ser2092Phe)
| |
6 | g.64230741G>C | CA364391459 | EYS | c.6275C>G (p.Ser2092Cys)
| |
6 | g.64230741G>T | CA364391460 | EYS | c.6275C>A (p.Ser2092Tyr)
| |
6 | g.64230742A>C | CA364391461 | EYS | c.6274T>G (p.Ser2092Ala)
| |
6 | g.64230742A>G | CA364391462 | EYS | c.6274T>C (p.Ser2092Pro)
| gnomAD v4 |
6 | g.64230742A>T | CA364391463 | EYS | c.6274T>A (p.Ser2092Thr)
| |
6 | g.64230743A= | CA1633626685 | EYS | c.6273T= (p.Thr2091=)
| |
6 | g.64230743A>C | CA450758851 | EYS | c.6273T>G (p.Thr2091=)
| |
6 | g.64230743A>G | CA3876932 | EYS | c.6273T>C (p.Thr2091=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64230743A>T | CA450758852 | EYS | c.6273T>A (p.Thr2091=)
| |
6 | g.64230744G>A | CA364391464 | EYS | c.6272C>T (p.Thr2091Ile)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.64230744G>C | CA364391466 | EYS | c.6272C>G (p.Thr2091Ser)
| |
6 | g.64230744G= | CA1633626686 | EYS | c.6272C= (p.Thr2091=)
| |
6 | g.64230744G>T | CA364391465 | EYS | c.6272C>A (p.Thr2091Asn)
| |
6 | g.64230745T>A | CA364391467 | EYS | c.6271A>T (p.Thr2091Ser)
| |
6 | g.64230745T>C | CA364391468 | EYS | c.6271A>G (p.Thr2091Ala)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.64230745T>G | CA364391469 | EYS | c.6271A>C (p.Thr2091Pro)
| |
6 | g.64230745T= | CA1633626687 | EYS | c.6271A= (p.Thr2091=)
| |
6 | g.64230746C>A | CA364391470 | EYS | c.6270G>T (p.Trp2090Cys)
| |
6 | g.64230746C= | CA1633626688 | EYS | c.6270G= (p.Trp2090=)
| |
6 | g.64230746C>G | CA364391471 | EYS | c.6270G>C (p.Trp2090Cys)
| |
6 | g.64230746C>T | CA364391472 | EYS | c.6270G>A (p.Trp2090Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64230747C>A | CA364391473 | EYS | c.6269G>T (p.Trp2090Leu)
| |
6 | g.64230747C= | CA1633626689 | EYS | c.6269G= (p.Trp2090=)
| |
6 | g.64230747C>G | CA364391474 | EYS | c.6269G>C (p.Trp2090Ser)
| |
6 | g.64230747C>T | CA364391475 | EYS | c.6269G>A (p.Trp2090Ter)
| ClinVar dbSNP gnomAD v4 |
6 | g.64230748A>C | CA364391478 | EYS | c.6268T>G (p.Trp2090Gly)
| |
6 | g.64230748A>G | CA364391477 | EYS | c.6268T>C (p.Trp2090Arg)
| |
6 | g.64230748A>T | CA364391476 | EYS | c.6268T>A (p.Trp2090Arg)
| dbSNP |
6 | g.64230749C>A | CA364391479 | EYS | c.6267G>T (p.Met2089Ile)
| dbSNP |
6 | g.64230749C>G | CA364391480 | EYS | c.6267G>C (p.Met2089Ile)
| |
6 | g.64230749C>T | CA364391481 | EYS | c.6267G>A (p.Met2089Ile)
| gnomAD v4 |
6 | g.64230750A= | CA1633626690 | EYS | c.6266T= (p.Met2089=)
| |
6 | g.64230750A>C | CA364391482 | EYS | c.6266T>G (p.Met2089Arg)
| |
6 | g.64230750A>G | CA364391483 | EYS | c.6266T>C (p.Met2089Thr)
| dbSNP |
6 | g.64230750A>T | CA364391484 | EYS | c.6266T>A (p.Met2089Lys)
| |
6 | g.64230751T>A | CA364391485 | EYS | c.6265A>T (p.Met2089Leu)
| |
6 | g.64230751T>C | CA364391486 | EYS | c.6265A>G (p.Met2089Val)
| |
6 | g.64230751T>G | CA364391487 | EYS | c.6265A>C (p.Met2089Leu)
| |
6 | g.64230752G>A | CA450758853 | EYS | c.6264C>T (p.Thr2088=)
| gnomAD v4 |
6 | g.64230752G>C | CA450758854 | EYS | c.6264C>G (p.Thr2088=)
| |
6 | g.64230752G>T | CA450758855 | EYS | c.6264C>A (p.Thr2088=)
| |
6 | g.64230753G>A | CA364391488 | EYS | c.6263C>T (p.Thr2088Ile)
| dbSNP gnomAD v4 |
6 | g.64230753G>C | CA364391489 | EYS | c.6263C>G (p.Thr2088Ser)
| |
6 | g.64230753G= | CA1633626691 | EYS | c.6263C= (p.Thr2088=)
| |
6 | g.64230753G>T | CA364391490 | EYS | c.6263C>A (p.Thr2088Asn)
| gnomAD v4 |
6 | g.64230754T>A | CA364391493 | EYS | c.6262A>T (p.Thr2088Ser)
| |
6 | g.64230754T>C | CA364391491 | EYS | c.6262A>G (p.Thr2088Ala)
| |
6 | g.64230754T>G | CA364391492 | EYS | c.6262A>C (p.Thr2088Pro)
| |
6 | g.64230754dup | CA2679283469 | EYS | c.6262dup (p.Thr2088AsnfsTer?)
| gnomAD v4 |
6 | g.64230755A= | CA1633626692 | EYS | c.6261T= (p.Asp2087=)
| |
6 | g.64230755A>C | CA364391494 | EYS | c.6261T>G (p.Asp2087Glu)
| |
6 | g.64230755A>G | CA450758856 | EYS | c.6261T>C (p.Asp2087=)
| dbSNP |
6 | g.64230755A>T | CA364391495 | EYS | c.6261T>A (p.Asp2087Glu)
| |
6 | g.64230756T>A | CA364391496 | EYS | c.6260A>T (p.Asp2087Val)
| |
6 | g.64230756T>C | CA364391497 | EYS | c.6260A>G (p.Asp2087Gly)
| gnomAD v4 |
6 | g.64230756T>G | CA364391498 | EYS | c.6260A>C (p.Asp2087Ala)
| |
6 | g.64230757C>A | CA364391499 | EYS | c.6259G>T (p.Asp2087Tyr)
| COSMIC |
6 | g.64230757C= | CA1633626693 | EYS | c.6259G= (p.Asp2087=)
| |
6 | g.64230757C>G | CA364391500 | EYS | c.6259G>C (p.Asp2087His)
| dbSNP gnomAD v4 |
6 | g.64230757C>T | CA364391501 | EYS | c.6259G>A (p.Asp2087Asn)
| COSMIC |
6 | g.64230758A>C | CA450758857 | EYS | c.6258T>G (p.Val2086=)
| |
6 | g.64230758A>G | CA450758858 | EYS | c.6258T>C (p.Val2086=)
| |
6 | g.64230758A>T | CA450758859 | EYS | c.6258T>A (p.Val2086=)
| ClinVar gnomAD v4 |
6 | g.64230759A>C | CA364391502 | EYS | c.6257T>G (p.Val2086Gly)
| |
6 | g.64230759A>G | CA364391503 | EYS | c.6257T>C (p.Val2086Ala)
| |
6 | g.64230759A>T | CA364391504 | EYS | c.6257T>A (p.Val2086Asp)
| |
6 | g.64230760C>A | CA364391507 | EYS | c.6256G>T (p.Val2086Phe)
| gnomAD v4 |
6 | g.64230760C= | CA1633626694 | EYS | c.6256G= (p.Val2086=)
| |
6 | g.64230760C>G | CA364391506 | EYS | c.6256G>C (p.Val2086Leu)
| |
6 | g.64230760C>T | CA364391505 | EYS | c.6256G>A (p.Val2086Ile)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64230761C>A | CA450758860 | EYS | c.6255G>T (p.Gly2085=)
| gnomAD v4 |
6 | g.64230761C>G | CA450758861 | EYS | c.6255G>C (p.Gly2085=)
| |
6 | g.64230761C>T | CA450758862 | EYS | c.6255G>A (p.Gly2085=)
| ClinVar gnomAD v4 |
6 | g.64230762C>A | CA364391508 | EYS | c.6254G>T (p.Gly2085Val)
| |
6 | g.64230762C>G | CA364391510 | EYS | c.6254G>C (p.Gly2085Ala)
| |
6 | g.64230762C>T | CA364391509 | EYS | c.6254G>A (p.Gly2085Glu)
| |
6 | g.64230763C>A | CA364391511 | EYS | c.6253G>T (p.Gly2085Trp)
| |
6 | g.64230763C>G | CA364391512 | EYS | c.6253G>C (p.Gly2085Arg)
| |
6 | g.64230763C>T | CA364391513 | EYS | c.6253G>A (p.Gly2085Arg)
| |
6 | g.64230764T>A | CA364391514 | EYS | c.6252A>T (p.Gln2084His)
| |
6 | g.64230764T>C | CA450758863 | EYS | c.6252A>G (p.Gln2084=)
| |
6 | g.64230764T>G | CA364391515 | EYS | c.6252A>C (p.Gln2084His)
| |
6 | g.64230765T>A | CA364391516 | EYS | c.6251A>T (p.Gln2084Leu)
| |
6 | g.64230765T>C | CA364391517 | EYS | c.6251A>G (p.Gln2084Arg)
| dbSNP |
6 | g.64230765T>G | CA364391518 | EYS | c.6251A>C (p.Gln2084Pro)
| |
6 | g.64230766G>A | CA364391519 | EYS | c.6250C>T (p.Gln2084Ter)
| |
6 | g.64230766G>C | CA364391520 | EYS | c.6250C>G (p.Gln2084Glu)
| |
6 | g.64230766G>T | CA364391521 | EYS | c.6250C>A (p.Gln2084Lys)
| |
6 | g.64230767T>A | CA450758864 | EYS | c.6249A>T (p.Thr2083=)
| |
6 | g.64230767T>C | CA450758865 | EYS | c.6249A>G (p.Thr2083=)
| |
6 | g.64230767T>G | CA140296100 | EYS | c.6249A>C (p.Thr2083=)
| ClinVar dbSNP gnomAD v4 |
6 | g.64230767T= | CA1633626695 | EYS | c.6249A= (p.Thr2083=)
| |
6 | g.64230768G>A | CA364391524 | EYS | c.6248C>T (p.Thr2083Ile)
| |
6 | g.64230768G>C | CA364391522 | EYS | c.6248C>G (p.Thr2083Arg)
| |
6 | g.64230768G>T | CA364391523 | EYS | c.6248C>A (p.Thr2083Lys)
| |
6 | g.64230769T>A | CA364391525 | EYS | c.6247A>T (p.Thr2083Ser)
| |
6 | g.64230769T>C | CA364391526 | EYS | c.6247A>G (p.Thr2083Ala)
| |
6 | g.64230769T>G | CA364391527 | EYS | c.6247A>C (p.Thr2083Pro)
| |
6 | g.64230770C>A | CA450758866 | EYS | c.6246G>T (p.Val2082=)
| gnomAD v4 |
6 | g.64230770C>G | CA450758867 | EYS | c.6246G>C (p.Val2082=)
| |
6 | g.64230770C>T | CA450758868 | EYS | c.6246G>A (p.Val2082=)
| |
6 | g.64230771A>C | CA364391528 | EYS | c.6245T>G (p.Val2082Gly)
| |
6 | g.64230771A>G | CA364391529 | EYS | c.6245T>C (p.Val2082Ala)
| |
6 | g.64230771A>T | CA364391530 | EYS | c.6245T>A (p.Val2082Glu)
| |
6 | g.64230772C>A | CA364391531 | EYS | c.6244G>T (p.Val2082Leu)
| |
6 | g.64230772C= | CA1633626696 | EYS | c.6244G= (p.Val2082=)
| |
6 | g.64230772C>G | CA364391532 | EYS | c.6244G>C (p.Val2082Leu)
| |
6 | g.64230772C>T | CA364391533 | EYS | c.6244G>A (p.Val2082Met)
| ClinVar dbSNP |
6 | g.64230773A>C | CA364391534 | EYS | c.6243T>G (p.Asp2081Glu)
| |
6 | g.64230773A>G | CA450758869 | EYS | c.6243T>C (p.Asp2081=)
| |
6 | g.64230773A>T | CA364391535 | EYS | c.6243T>A (p.Asp2081Glu)
| |
6 | g.64230774T>A | CA364391537 | EYS | c.6242A>T (p.Asp2081Val)
| dbSNP gnomAD v4 |
6 | g.64230774T>C | CA364391538 | EYS | c.6242A>G (p.Asp2081Gly)
| |
6 | g.64230774T>G | CA364391536 | EYS | c.6242A>C (p.Asp2081Ala)
| |
6 | g.64230774T= | CA1633626697 | EYS | c.6242A= (p.Asp2081=)
| |
6 | g.64230775C>A | CA364391539 | EYS | c.6241G>T (p.Asp2081Tyr)
| gnomAD v4 |
6 | g.64230775C>G | CA364391540 | EYS | c.6241G>C (p.Asp2081His)
| |
6 | g.64230775C>T | CA364391541 | EYS | c.6241G>A (p.Asp2081Asn)
| |
6 | g.64230776A>C | CA450758870 | EYS | c.6240T>G (p.Ser2080=)
| |
6 | g.64230776A>G | CA450758871 | EYS | c.6240T>C (p.Ser2080=)
| ClinVar |
6 | g.64230776A>T | CA450758872 | EYS | c.6240T>A (p.Ser2080=)
| |
6 | g.64230777G>A | CA364391542 | EYS | c.6239C>T (p.Ser2080Phe)
| |
6 | g.64230777G>C | CA364391543 | EYS | c.6239C>G (p.Ser2080Cys)
| |
6 | g.64230777G>T | CA364391544 | EYS | c.6239C>A (p.Ser2080Tyr)
| |
6 | g.64230777_64230787del | CA913111500 | EYS | c.6229_6239del (p.Val2077Ter)
| |
6 | g.64230777_64230787delinsGAAGCATCAAC | CA1633626698 | EYS | c.6229_6239delinsGTTGATGCTTC (p.Val2077=)
| |
6 | g.64230778A>C | CA364391545 | EYS | c.6238T>G (p.Ser2080Ala)
| |
6 | g.64230778A>G | CA364391546 | EYS | c.6238T>C (p.Ser2080Pro)
| |
6 | g.64230778A>T | CA364391547 | EYS | c.6238T>A (p.Ser2080Thr)
| |
6 | g.64230780_64230789del | CA658822023 | EYS | c.6229_6238del (p.Val2077LeufsTer3)
| ClinVar dbSNP |
6 | g.64230779A>C | CA450758873 | EYS | c.6237T>G (p.Ala2079=)
| gnomAD v4 |
6 | g.64230779A>G | CA450758875 | EYS | c.6237T>C (p.Ala2079=)
| |
6 | g.64230779A>T | CA450758874 | EYS | c.6237T>A (p.Ala2079=)
| |
6 | g.64230780G>A | CA364391548 | EYS | c.6236C>T (p.Ala2079Val)
| dbSNP |
6 | g.64230780G>C | CA364391549 | EYS | c.6236C>G (p.Ala2079Gly)
| |
6 | g.64230780G= | CA1633626699 | EYS | c.6236C= (p.Ala2079=)
| |
6 | g.64230780G>T | CA364391550 | EYS | c.6236C>A (p.Ala2079Asp)
| gnomAD v4 |
6 | g.64230781C>A | CA364391552 | EYS | c.6235G>T (p.Ala2079Ser)
| |
6 | g.64230781C>G | CA364391553 | EYS | c.6235G>C (p.Ala2079Pro)
| |
6 | g.64230781C>T | CA364391551 | EYS | c.6235G>A (p.Ala2079Thr)
| gnomAD v4 |
6 | g.64230782A>C | CA364391554 | EYS | c.6234T>G (p.Asp2078Glu)
| |
6 | g.64230782A>G | CA450758876 | EYS | c.6234T>C (p.Asp2078=)
| |
6 | g.64230782A>T | CA364391555 | EYS | c.6234T>A (p.Asp2078Glu)
| |
6 | g.64230783T>A | CA364391556 | EYS | c.6233A>T (p.Asp2078Val)
| |
6 | g.64230783T>C | CA364391557 | EYS | c.6233A>G (p.Asp2078Gly)
| |
6 | g.64230783T>G | CA364391558 | EYS | c.6233A>C (p.Asp2078Ala)
| |
6 | g.64230784C>A | CA364391561 | EYS | c.6232G>T (p.Asp2078Tyr)
| |
6 | g.64230784C>G | CA364391559 | EYS | c.6232G>C (p.Asp2078His)
| |
6 | g.64230784C>T | CA364391560 | EYS | c.6232G>A (p.Asp2078Asn)
| |
6 | g.64230785A>C | CA450758877 | EYS | c.6231T>G (p.Val2077=)
| |
6 | g.64230785A>G | CA450758878 | EYS | c.6231T>C (p.Val2077=)
| |
6 | g.64230785A>T | CA450758879 | EYS | c.6231T>A (p.Val2077=)
| |
6 | g.64230786A>C | CA364391562 | EYS | c.6230T>G (p.Val2077Gly)
| |
6 | g.64230786A>G | CA364391563 | EYS | c.6230T>C (p.Val2077Ala)
| |
6 | g.64230786A>T | CA364391564 | EYS | c.6230T>A (p.Val2077Asp)
| |
6 | g.64230787del | CA2679283470 | EYS | c.6229del (p.Val2077LeufsTer6)
| gnomAD v4 |
6 | g.64230787C>A | CA364391565 | EYS | c.6229G>T (p.Val2077Phe)
| |
6 | g.64230787C= | CA1633626700 | EYS | c.6229G= (p.Val2077=)
| |
6 | g.64230787C>G | CA364391566 | EYS | c.6229G>C (p.Val2077Leu)
| |
6 | g.64230787C>T | CA364391567 | EYS | c.6229G>A (p.Val2077Ile)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.64230788A>C | CA364391569 | EYS | c.6228T>G (p.Phe2076Leu)
| gnomAD v4 |
6 | g.64230788A>G | CA450758880 | EYS | c.6228T>C (p.Phe2076=)
| |
6 | g.64230788A>T | CA364391568 | EYS | c.6228T>A (p.Phe2076Leu)
| |
6 | g.64230789A>C | CA364391570 | EYS | c.6227T>G (p.Phe2076Cys)
| |
6 | g.64230789A>G | CA364391571 | EYS | c.6227T>C (p.Phe2076Ser)
| |
6 | g.64230789A>T | CA364391572 | EYS | c.6227T>A (p.Phe2076Tyr)
| |
6 | g.64230790A>C | CA364391573 | EYS | c.6226T>G (p.Phe2076Val)
| |
6 | g.64230790A>G | CA364391574 | EYS | c.6226T>C (p.Phe2076Leu)
| gnomAD v4 |
6 | g.64230790A>T | CA364391575 | EYS | c.6226T>A (p.Phe2076Ile)
| |
6 | g.64230791G>A | CA450758881 | EYS | c.6225C>T (p.Ser2075=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
6 | g.64230791G>C | CA450758882 | EYS | c.6225C>G (p.Ser2075=)
| |
6 | g.64230791G= | CA1633626701 | EYS | c.6225C= (p.Ser2075=)
| |
6 | g.64230791G>T | CA450758883 | EYS | c.6225C>A (p.Ser2075=)
| |
6 | g.64230792G>A | CA364391578 | EYS | c.6224C>T (p.Ser2075Phe)
| COSMIC |
6 | g.64230792G>C | CA364391577 | EYS | c.6224C>G (p.Ser2075Cys)
| gnomAD v4 |
6 | g.64230792G>T | CA364391576 | EYS | c.6224C>A (p.Ser2075Tyr)
| |
6 | g.64230793A>C | CA364391579 | EYS | c.6223T>G (p.Ser2075Ala)
| gnomAD v4 |
6 | g.64230793A>G | CA364391580 | EYS | c.6223T>C (p.Ser2075Pro)
| |
6 | g.64230793A>T | CA364391581 | EYS | c.6223T>A (p.Ser2075Thr)
| |
6 | g.64230794G>A | CA450758884 | EYS | c.6222C>T (p.Ala2074=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.64230794G>C | CA450758885 | EYS | c.6222C>G (p.Ala2074=)
| |
6 | g.64230794G= | CA1633626702 | EYS | c.6222C= (p.Ala2074=)
| |
6 | g.64230794G>T | CA450758886 | EYS | c.6222C>A (p.Ala2074=)
| |
6 | g.64230795G>A | CA364391582 | EYS | c.6221C>T (p.Ala2074Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64230795G>C | CA364391583 | EYS | c.6221C>G (p.Ala2074Gly)
| |
6 | g.64230795G= | CA1633626703 | EYS | c.6221C= (p.Ala2074=)
| |
6 | g.64230795G>T | CA364391584 | EYS | c.6221C>A (p.Ala2074Asp)
| |
6 | g.64230796C>A | CA364391585 | EYS | c.6220G>T (p.Ala2074Ser)
| |
6 | g.64230796C= | CA1633626704 | EYS | c.6220G= (p.Ala2074=)
| |
6 | g.64230796C>G | CA364391587 | EYS | c.6220G>C (p.Ala2074Pro)
| |
6 | g.64230796C>T | CA364391586 | EYS | c.6220G>A (p.Ala2074Thr)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.64230797T>A | CA450758889 | EYS | c.6219A>T (p.Thr2073=)
| |
6 | g.64230797T>C | CA450758888 | EYS | c.6219A>G (p.Thr2073=)
| |
6 | g.64230797T>G | CA450758887 | EYS | c.6219A>C (p.Thr2073=)
| |
6 | g.64230798G>A | CA364391588 | EYS | c.6218C>T (p.Thr2073Ile)
| |
6 | g.64230798G>C | CA364391589 | EYS | c.6218C>G (p.Thr2073Arg)
| |
6 | g.64230798G>T | CA364391590 | EYS | c.6218C>A (p.Thr2073Lys)
| |
6 | g.64230798_64230799insGAAGAGCAGGGATGAATCAGA | CA2771469814 | EYS | c.6217_6218insTCTGATTCATCCCTGCTCTTC (p.Thr2073IlefsTer2)
| |
6 | g.64230799T>A | CA364391591 | EYS | c.6217A>T (p.Thr2073Ser)
| |
6 | g.64230799T>C | CA364391592 | EYS | c.6217A>G (p.Thr2073Ala)
| |
6 | g.64230799T>G | CA364391593 | EYS | c.6217A>C (p.Thr2073Pro)
| |
6 | g.64230800T>A | CA450758890 | EYS | c.6216A>T (p.Pro2072=)
| |
6 | g.64230800T>C | CA450758891 | EYS | c.6216A>G (p.Pro2072=)
| |
6 | g.64230800T>G | CA450758892 | EYS | c.6216A>C (p.Pro2072=)
| |
6 | g.64230800_64230802del | CA2771469815 | EYS | c.6214_6216del (p.Pro2072del)
| |
6 | g.64230801G>A | CA364391594 | EYS | c.6215C>T (p.Pro2072Leu)
| gnomAD v4 |
6 | g.64230801G>C | CA364391595 | EYS | c.6215C>G (p.Pro2072Arg)
| |
6 | g.64230801G>T | CA364391596 | EYS | c.6215C>A (p.Pro2072Gln)
| |
6 | g.64230802G>A | CA364391597 | EYS | c.6214C>T (p.Pro2072Ser)
| |
6 | g.64230802G>C | CA364391598 | EYS | c.6214C>G (p.Pro2072Ala)
| ClinVar dbSNP gnomAD v4 |
6 | g.64230802G= | CA1633626705 | EYS | c.6214C= (p.Pro2072=)
| |
6 | g.64230802G>T | CA364391599 | EYS | c.6214C>A (p.Pro2072Thr)
| |
6 | g.64230803A>C | CA450758893 | EYS | c.6213T>G (p.Ser2071=)
| |
6 | g.64230803A>G | CA450758895 | EYS | c.6213T>C (p.Ser2071=)
| ClinVar |
6 | g.64230803A>T | CA450758894 | EYS | c.6213T>A (p.Ser2071=)
| |
6 | g.64230804G>A | CA364391602 | EYS | c.6212C>T (p.Ser2071Phe)
| |
6 | g.64230804G>C | CA364391600 | EYS | c.6212C>G (p.Ser2071Cys)
| |
6 | g.64230804G>T | CA364391601 | EYS | c.6212C>A (p.Ser2071Tyr)
| |
6 | g.64230805A>C | CA364391603 | EYS | c.6211T>G (p.Ser2071Ala)
| |
6 | g.64230805A>G | CA364391604 | EYS | c.6211T>C (p.Ser2071Pro)
| |
6 | g.64230805A>T | CA364391605 | EYS | c.6211T>A (p.Ser2071Thr)
| |
6 | g.64230806C>A | CA450758896 | EYS | c.6210G>T (p.Leu2070=)
| |
6 | g.64230806C= | CA1633626706 | EYS | c.6210G= (p.Leu2070=)
| |
6 | g.64230806C>G | CA450758897 | EYS | c.6210G>C (p.Leu2070=)
| |
6 | g.64230806C>T | CA450758898 | EYS | c.6210G>A (p.Leu2070=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.64230807A= | CA1633626707 | EYS | c.6209T= (p.Leu2070=)
| |
6 | g.64230807A>C | CA364391606 | EYS | c.6209T>G (p.Leu2070Arg)
| |
6 | g.64230807A>G | CA364391607 | EYS | c.6209T>C (p.Leu2070Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64230807A>T | CA364391608 | EYS | c.6209T>A (p.Leu2070Gln)
| |
6 | g.64230808G>A | CA450758899 | EYS | c.6208C>T (p.Leu2070=)
| gnomAD v4 |
6 | g.64230808G>C | CA364391610 | EYS | c.6208C>G (p.Leu2070Val)
| |
6 | g.64230808G>T | CA364391609 | EYS | c.6208C>A (p.Leu2070Met)
| |
6 | g.64230809C>A | CA364391611 | EYS | c.6207G>T (p.Met2069Ile)
| gnomAD v4 |
6 | g.64230809C>G | CA364391612 | EYS | c.6207G>C (p.Met2069Ile)
| |
6 | g.64230809C>T | CA364391613 | EYS | c.6207G>A (p.Met2069Ile)
| gnomAD v4 |
6 | g.64230809_64230811del | CA2578660043 | EYS | c.6205_6207del (p.Met2069del)
| |
6 | g.64230810A>C | CA364391614 | EYS | c.6206T>G (p.Met2069Arg)
| |
6 | g.64230810A>G | CA364391615 | EYS | c.6206T>C (p.Met2069Thr)
| |
6 | g.64230810A>T | CA364391616 | EYS | c.6206T>A (p.Met2069Lys)
| |