8 | g.10612711C>A | CA370295612 | RP1L1 | c.1387G>T (p.Glu463Ter)
| dbSNP gnomAD v4 COSMIC |
8 | g.10612711C= | CA1763378904 | RP1L1 | c.1387G= (p.Glu463=)
| |
8 | g.10612711C>G | CA370295613 | RP1L1 | c.1387G>C (p.Glu463Gln)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
8 | g.10612711C>T | CA4625194 | RP1L1 | c.1387G>A (p.Glu463Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10612712G>A | CA4625195 | RP1L1 | c.1386C>T (p.Pro462=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10612712G>C | CA4625197 | RP1L1 | c.1386C>G (p.Pro462=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10612712G= | CA1763378909 | RP1L1 | c.1386C= (p.Pro462=)
| |
8 | g.10612712G>T | CA4625196 | RP1L1 | c.1386C>A (p.Pro462=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10612715del | CA2686113821 | RP1L1 | c.1386del (p.Glu463ArgfsTer27)
| gnomAD v4 |
8 | g.10612713G>A | CA370295616 | RP1L1 | c.1385C>T (p.Pro462Leu)
| gnomAD v4 |
8 | g.10612713G>C | CA370295615 | RP1L1 | c.1385C>G (p.Pro462Arg)
| |
8 | g.10612713G>T | CA370295614 | RP1L1 | c.1385C>A (p.Pro462His)
| gnomAD v4 |
8 | g.10612714G>A | CA370295617 | RP1L1 | c.1384C>T (p.Pro462Ser)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
8 | g.10612714G>C | CA370295619 | RP1L1 | c.1384C>G (p.Pro462Ala)
| |
8 | g.10612714G= | CA1763378911 | RP1L1 | c.1384C= (p.Pro462=)
| |
8 | g.10612714G>T | CA370295618 | RP1L1 | c.1384C>A (p.Pro462Thr)
| gnomAD v4 |
8 | g.10612715G>A | CA459619758 | RP1L1 | c.1383C>T (p.Leu461=)
| dbSNP gnomAD v2 |
8 | g.10612715G>C | CA459619756 | RP1L1 | c.1383C>G (p.Leu461=)
| |
8 | g.10612715G= | CA1763378913 | RP1L1 | c.1383C= (p.Leu461=)
| |
8 | g.10612715G>T | CA459619755 | RP1L1 | c.1383C>A (p.Leu461=)
| gnomAD v4 |
8 | g.10612716A>C | CA370295620 | RP1L1 | c.1382T>G (p.Leu461Arg)
| |
8 | g.10612716A>G | CA370295621 | RP1L1 | c.1382T>C (p.Leu461Pro)
| |
8 | g.10612716A>T | CA370295622 | RP1L1 | c.1382T>A (p.Leu461His)
| |
8 | g.10612717G>A | CA370295623 | RP1L1 | c.1381C>T (p.Leu461Phe)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
8 | g.10612717G>C | CA370295624 | RP1L1 | c.1381C>G (p.Leu461Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.10612717G= | CA1763378915 | RP1L1 | c.1381C= (p.Leu461=)
| |
8 | g.10612717G>T | CA370295625 | RP1L1 | c.1381C>A (p.Leu461Ile)
| |
8 | g.10612718G>A | CA459619764 | RP1L1 | c.1380C>T (p.Gly460=)
| dbSNP gnomAD v4 |
8 | g.10612718G>C | CA459619761 | RP1L1 | c.1380C>G (p.Gly460=)
| |
8 | g.10612718G= | CA1763378917 | RP1L1 | c.1380C= (p.Gly460=)
| |
8 | g.10612718G>T | CA459619763 | RP1L1 | c.1380C>A (p.Gly460=)
| gnomAD v4 |
8 | g.10612719C>A | CA370295626 | RP1L1 | c.1379G>T (p.Gly460Val)
| |
8 | g.10612719C= | CA1763378919 | RP1L1 | c.1379G= (p.Gly460=)
| |
8 | g.10612719C>G | CA370295627 | RP1L1 | c.1379G>C (p.Gly460Ala)
| |
8 | g.10612719C>T | CA370295628 | RP1L1 | c.1379G>A (p.Gly460Asp)
| dbSNP gnomAD v2 gnomAD v4 |
8 | g.10612720C>A | CA370295629 | RP1L1 | c.1378G>T (p.Gly460Cys)
| gnomAD v4 |
8 | g.10612720C= | CA1763378921 | RP1L1 | c.1378G= (p.Gly460=)
| |
8 | g.10612720C>G | CA370295630 | RP1L1 | c.1378G>C (p.Gly460Arg)
| |
8 | g.10612720C>T | CA4625198 | RP1L1 | c.1378G>A (p.Gly460Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10612721G>A | CA171947737 | RP1L1 | c.1377C>T (p.Thr459=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10612721G>C | CA459619769 | RP1L1 | c.1377C>G (p.Thr459=)
| gnomAD v4 |
8 | g.10612721G= | CA1763378924 | RP1L1 | c.1377C= (p.Thr459=)
| |
8 | g.10612721G>T | CA459619770 | RP1L1 | c.1377C>A (p.Thr459=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10612722G>A | CA4625200 | RP1L1 | c.1376C>T (p.Thr459Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10612722G>C | CA370295631 | RP1L1 | c.1376C>G (p.Thr459Ser)
| dbSNP gnomAD v3 gnomAD v4 |
8 | g.10612722G= | CA1763378927 | RP1L1 | c.1376C= (p.Thr459=)
| |
8 | g.10612722G>T | CA4625199 | RP1L1 | c.1376C>A (p.Thr459Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10612723T>A | CA370295632 | RP1L1 | c.1375A>T (p.Thr459Ser)
| |
8 | g.10612723T>C | CA370295633 | RP1L1 | c.1375A>G (p.Thr459Ala)
| |
8 | g.10612723T>G | CA370295634 | RP1L1 | c.1375A>C (p.Thr459Pro)
| dbSNP gnomAD v3 gnomAD v4 |
8 | g.10612723T= | CA1763378929 | RP1L1 | c.1375A= (p.Thr459=)
| |
8 | g.10612724G>A | CA459619775 | RP1L1 | c.1374C>T (p.Ser458=)
| gnomAD v4 |
8 | g.10612724G>C | CA370295635 | RP1L1 | c.1374C>G (p.Ser458Arg)
| |
8 | g.10612724G>T | CA370295636 | RP1L1 | c.1374C>A (p.Ser458Arg)
| gnomAD v4 |
8 | g.10612725C>A | CA370295637 | RP1L1 | c.1373G>T (p.Ser458Ile)
| ClinVar gnomAD v4 COSMIC |
8 | g.10612725C>G | CA370295638 | RP1L1 | c.1373G>C (p.Ser458Thr)
| |
8 | g.10612725C>T | CA370295639 | RP1L1 | c.1373G>A (p.Ser458Asn)
| gnomAD v4 |
8 | g.10612726T>A | CA370295640 | RP1L1 | c.1372A>T (p.Ser458Cys)
| |
8 | g.10612726T>C | CA171947740 | RP1L1 | c.1372A>G (p.Ser458Gly)
| dbSNP |
8 | g.10612726T>G | CA370295641 | RP1L1 | c.1372A>C (p.Ser458Arg)
| |
8 | g.10612726T= | CA1763378931 | RP1L1 | c.1372A= (p.Ser458=)
| |
8 | g.10612727G>A | CA459619782 | RP1L1 | c.1371C>T (p.Ser457=)
| gnomAD v4 |
8 | g.10612727G>C | CA459619783 | RP1L1 | c.1371C>G (p.Ser457=)
| |
8 | g.10612727G>T | CA459619784 | RP1L1 | c.1371C>A (p.Ser457=)
| |
8 | g.10612728G>A | CA4625201 | RP1L1 | c.1370C>T (p.Ser457Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10612728G>C | CA370295643 | RP1L1 | c.1370C>G (p.Ser457Cys)
| dbSNP gnomAD v3 gnomAD v4 |
8 | g.10612728G= | CA1763378933 | RP1L1 | c.1370C= (p.Ser457=)
| |
8 | g.10612728G>T | CA370295642 | RP1L1 | c.1370C>A (p.Ser457Tyr)
| |
8 | g.10612729A>C | CA370295644 | RP1L1 | c.1369T>G (p.Ser457Ala)
| |
8 | g.10612729A>G | CA370295645 | RP1L1 | c.1369T>C (p.Ser457Pro)
| |
8 | g.10612729A>T | CA370295646 | RP1L1 | c.1369T>A (p.Ser457Thr)
| |
8 | g.10612730G>A | CA4625202 | RP1L1 | c.1368C>T (p.Ala456=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10612730G>C | CA459619789 | RP1L1 | c.1368C>G (p.Ala456=)
| |
8 | g.10612730G= | CA1763378934 | RP1L1 | c.1368C= (p.Ala456=)
| |
8 | g.10612730G>T | CA459619790 | RP1L1 | c.1368C>A (p.Ala456=)
| gnomAD v4 |
8 | g.10612731G>A | CA4625203 | RP1L1 | c.1367C>T (p.Ala456Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10612731G>C | CA4625204 | RP1L1 | c.1367C>G (p.Ala456Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10612731G= | CA1763378936 | RP1L1 | c.1367C= (p.Ala456=)
| |
8 | g.10612731G>T | CA370295647 | RP1L1 | c.1367C>A (p.Ala456Asp)
| dbSNP gnomAD v4 |
8 | g.10612731_10612741dup | CA2686113854 | RP1L1 | c.1357_1367dup (p.Ser457ProfsTer?)
| gnomAD v4 |
8 | g.10612732C>A | CA370295648 | RP1L1 | c.1366G>T (p.Ala456Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10612732C= | CA1763378938 | RP1L1 | c.1366G= (p.Ala456=)
| |
8 | g.10612732C>G | CA370295649 | RP1L1 | c.1366G>C (p.Ala456Pro)
| |
8 | g.10612732C>T | CA4625205 | RP1L1 | c.1366G>A (p.Ala456Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10612733T>A | CA459619794 | RP1L1 | c.1365A>T (p.Pro455=)
| |
8 | g.10612733T>C | CA459619795 | RP1L1 | c.1365A>G (p.Pro455=)
| dbSNP gnomAD v4 |
8 | g.10612733T>G | CA459619793 | RP1L1 | c.1365A>C (p.Pro455=)
| gnomAD v4 |
8 | g.10612733T= | CA1763378941 | RP1L1 | c.1365A= (p.Pro455=)
| |
8 | g.10612733_10612734delinsTG | CA1763378940 | RP1L1 | c.1364_1365delinsCA (p.Pro455=)
| |
8 | g.10612734G>A | CA4625207 | RP1L1 | c.1364C>T (p.Pro455Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10612734G>C | CA370295650 | RP1L1 | c.1364C>G (p.Pro455Arg)
| |
8 | g.10612734G= | CA1763378942 | RP1L1 | c.1364C= (p.Pro455=)
| |
8 | g.10612734G>T | CA370295651 | RP1L1 | c.1364C>A (p.Pro455Gln)
| |
8 | g.10612736del | CA4625206 | RP1L1 | c.1364del (p.Pro455GlnfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10612735G>A | CA370295652 | RP1L1 | c.1363C>T (p.Pro455Ser)
| COSMIC |
8 | g.10612735G>C | CA370295653 | RP1L1 | c.1363C>G (p.Pro455Ala)
| |
8 | g.10612735G= | CA1763378944 | RP1L1 | c.1363C= (p.Pro455=)
| |
8 | g.10612735G>T | CA171947748 | RP1L1 | c.1363C>A (p.Pro455Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.10612736G>A | CA459619801 | RP1L1 | c.1362C>T (p.Ser454=)
| dbSNP gnomAD v4 |
8 | g.10612736G>C | CA171947750 | RP1L1 | c.1362C>G (p.Ser454Arg)
| dbSNP |
8 | g.10612736G= | CA1763378946 | RP1L1 | c.1362C= (p.Ser454=)
| |
8 | g.10612736G>T | CA4625208 | RP1L1 | c.1362C>A (p.Ser454Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10612737C>A | CA370295654 | RP1L1 | c.1361G>T (p.Ser454Ile)
| gnomAD v4 |
8 | g.10612737C= | CA1763378948 | RP1L1 | c.1361G= (p.Ser454=)
| |
8 | g.10612737C>G | CA370295655 | RP1L1 | c.1361G>C (p.Ser454Thr)
| |
8 | g.10612737C>T | CA4625209 | RP1L1 | c.1361G>A (p.Ser454Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
8 | g.10612738T>A | CA370295656 | RP1L1 | c.1360A>T (p.Ser454Cys)
| |
8 | g.10612738T>C | CA370295657 | RP1L1 | c.1360A>G (p.Ser454Gly)
| |
8 | g.10612738T>G | CA370295658 | RP1L1 | c.1360A>C (p.Ser454Arg)
| dbSNP gnomAD v3 gnomAD v4 |
8 | g.10612738T= | CA1763378949 | RP1L1 | c.1360A= (p.Ser454=)
| |
8 | g.10612739G>A | CA459619808 | RP1L1 | c.1359C>T (p.Ala453=)
| gnomAD v4 |
8 | g.10612739G>C | CA459619809 | RP1L1 | c.1359C>G (p.Ala453=)
| |
8 | g.10612739G= | CA1763378951 | RP1L1 | c.1359C= (p.Ala453=)
| |
8 | g.10612739G>T | CA459619810 | RP1L1 | c.1359C>A (p.Ala453=)
| dbSNP gnomAD v4 |
8 | g.10612740G>A | CA4625210 | RP1L1 | c.1358C>T (p.Ala453Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10612740G>C | CA370295659 | RP1L1 | c.1358C>G (p.Ala453Gly)
| gnomAD v4 |
8 | g.10612740G= | CA1763378952 | RP1L1 | c.1358C= (p.Ala453=)
| |
8 | g.10612740G>T | CA370295660 | RP1L1 | c.1358C>A (p.Ala453Asp)
| gnomAD v4 |
8 | g.10612741C>A | CA370295661 | RP1L1 | c.1357G>T (p.Ala453Ser)
| |
8 | g.10612741C= | CA1763378953 | RP1L1 | c.1357G= (p.Ala453=)
| |
8 | g.10612741C>G | CA370295662 | RP1L1 | c.1357G>C (p.Ala453Pro)
| gnomAD v4 |
8 | g.10612741C>T | CA4625211 | RP1L1 | c.1357G>A (p.Ala453Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10612742A= | CA1763378954 | RP1L1 | c.1356T= (p.Ser452=)
| |
8 | g.10612742A>C | CA370295664 | RP1L1 | c.1356T>G (p.Ser452Arg)
| |
8 | g.10612742A>G | CA459619814 | RP1L1 | c.1356T>C (p.Ser452=)
| |
8 | g.10612742A>T | CA370295663 | RP1L1 | c.1356T>A (p.Ser452Arg)
| dbSNP gnomAD v2 gnomAD v4 |
8 | g.10612743C>A | CA370295666 | RP1L1 | c.1355G>T (p.Ser452Ile)
| |
8 | g.10612743C= | CA1763378956 | RP1L1 | c.1355G= (p.Ser452=)
| |
8 | g.10612743C>G | CA370295665 | RP1L1 | c.1355G>C (p.Ser452Thr)
| |
8 | g.10612743C>T | CA370295667 | RP1L1 | c.1355G>A (p.Ser452Asn)
| dbSNP |
8 | g.10612744T>A | CA370295668 | RP1L1 | c.1354A>T (p.Ser452Cys)
| |
8 | g.10612744T>C | CA370295669 | RP1L1 | c.1354A>G (p.Ser452Gly)
| dbSNP gnomAD v3 gnomAD v4 |
8 | g.10612744T>G | CA370295670 | RP1L1 | c.1354A>C (p.Ser452Arg)
| dbSNP gnomAD v3 gnomAD v4 |
8 | g.10612744T= | CA1763378958 | RP1L1 | c.1354A= (p.Ser452=)
| |
8 | g.10612745G>A | CA171947752 | RP1L1 | c.1353C>T (p.Asp451=)
| dbSNP gnomAD v3 gnomAD v4 |
8 | g.10612745G>C | CA4625212 | RP1L1 | c.1353C>G (p.Asp451Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10612745G= | CA1763378960 | RP1L1 | c.1353C= (p.Asp451=)
| |
8 | g.10612745G>T | CA370295671 | RP1L1 | c.1353C>A (p.Asp451Glu)
| gnomAD v4 |
8 | g.10612746T>A | CA370295672 | RP1L1 | c.1352A>T (p.Asp451Val)
| |
8 | g.10612746T>C | CA370295673 | RP1L1 | c.1352A>G (p.Asp451Gly)
| gnomAD v4 |
8 | g.10612746T>G | CA370295674 | RP1L1 | c.1352A>C (p.Asp451Ala)
| |
8 | g.10612747C>A | CA370295675 | RP1L1 | c.1351G>T (p.Asp451Tyr)
| |
8 | g.10612747C= | CA1763378962 | RP1L1 | c.1351G= (p.Asp451=)
| |
8 | g.10612747C>G | CA370295676 | RP1L1 | c.1351G>C (p.Asp451His)
| dbSNP gnomAD v2 gnomAD v4 |
8 | g.10612747C>T | CA370295677 | RP1L1 | c.1351G>A (p.Asp451Asn)
| |
8 | g.10612748C>A | CA4625213 | RP1L1 | c.1350G>T (p.Gln450His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10612748C= | CA1763378964 | RP1L1 | c.1350G= (p.Gln450=)
| |
8 | g.10612748C>G | CA370295678 | RP1L1 | c.1350G>C (p.Gln450His)
| |
8 | g.10612748C>T | CA4625214 | RP1L1 | c.1350G>A (p.Gln450=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10612749T>A | CA370295679 | RP1L1 | c.1349A>T (p.Gln450Leu)
| |
8 | g.10612749T>C | CA370295680 | RP1L1 | c.1349A>G (p.Gln450Arg)
| gnomAD v4 COSMIC |
8 | g.10612749T>G | CA370295681 | RP1L1 | c.1349A>C (p.Gln450Pro)
| |
8 | g.10612750G>A | CA370295682 | RP1L1 | c.1348C>T (p.Gln450Ter)
| |
8 | g.10612750G>C | CA370295683 | RP1L1 | c.1348C>G (p.Gln450Glu)
| gnomAD v4 |
8 | g.10612750G>T | CA370295684 | RP1L1 | c.1348C>A (p.Gln450Lys)
| gnomAD v4 |
8 | g.10612751G>A | CA459619822 | RP1L1 | c.1347C>T (p.Ser449=)
| gnomAD v4 |
8 | g.10612751G>C | CA370295685 | RP1L1 | c.1347C>G (p.Ser449Arg)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
8 | g.10612751G= | CA1763378965 | RP1L1 | c.1347C= (p.Ser449=)
| |
8 | g.10612751G>T | CA370295686 | RP1L1 | c.1347C>A (p.Ser449Arg)
| gnomAD v4 |
8 | g.10612752C>A | CA370295687 | RP1L1 | c.1346G>T (p.Ser449Ile)
| |
8 | g.10612752C= | CA1763378967 | RP1L1 | c.1346G= (p.Ser449=)
| |
8 | g.10612752C>G | CA4625215 | RP1L1 | c.1346G>C (p.Ser449Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10612752C>T | CA370295688 | RP1L1 | c.1346G>A (p.Ser449Asn)
| |
8 | g.10612753T>A | CA370295690 | RP1L1 | c.1345A>T (p.Ser449Cys)
| |
8 | g.10612753T>C | CA370295691 | RP1L1 | c.1345A>G (p.Ser449Gly)
| gnomAD v4 |
8 | g.10612753T>G | CA370295689 | RP1L1 | c.1345A>C (p.Ser449Arg)
| |
8 | g.10612754G>A | CA4625216 | RP1L1 | c.1344C>T (p.Cys448=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10612754G>C | CA370295692 | RP1L1 | c.1344C>G (p.Cys448Trp)
| |
8 | g.10612754G= | CA1763378969 | RP1L1 | c.1344C= (p.Cys448=)
| |
8 | g.10612754G>T | CA370295693 | RP1L1 | c.1344C>A (p.Cys448Ter)
| dbSNP gnomAD v3 gnomAD v4 |
8 | g.10612755C>A | CA370295694 | RP1L1 | c.1343G>T (p.Cys448Phe)
| |
8 | g.10612755C>G | CA370295695 | RP1L1 | c.1343G>C (p.Cys448Ser)
| |
8 | g.10612755C>T | CA370295696 | RP1L1 | c.1343G>A (p.Cys448Tyr)
| gnomAD v4 |
8 | g.10612756A= | CA1763378971 | RP1L1 | c.1342T= (p.Cys448=)
| |
8 | g.10612756A>C | CA370295697 | RP1L1 | c.1342T>G (p.Cys448Gly)
| |
8 | g.10612756A>G | CA4625217 | RP1L1 | c.1342T>C (p.Cys448Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10612756A>T | CA370295698 | RP1L1 | c.1342T>A (p.Cys448Ser)
| |
8 | g.10612757T>A | CA370295699 | RP1L1 | c.1341A>T (p.Arg447Ser)
| dbSNP gnomAD v4 |
8 | g.10612757T>C | CA171947757 | RP1L1 | c.1341A>G (p.Arg447=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10612757T>G | CA370295700 | RP1L1 | c.1341A>C (p.Arg447Ser)
| |
8 | g.10612757T= | CA1763378974 | RP1L1 | c.1341A= (p.Arg447=)
| |
8 | g.10612758C>A | CA370295701 | RP1L1 | c.1340G>T (p.Arg447Ile)
| |
8 | g.10612758C= | CA1763378976 | RP1L1 | c.1340G= (p.Arg447=)
| |
8 | g.10612758C>G | CA10629878 | RP1L1 | c.1340G>C (p.Arg447Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.10612758C>T | CA370295702 | RP1L1 | c.1340G>A (p.Arg447Lys)
| |
8 | g.10612759T>A | CA370295703 | RP1L1 | c.1339A>T (p.Arg447Ter)
| |
8 | g.10612759T>C | CA4625218 | RP1L1 | c.1339A>G (p.Arg447Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10612759T>G | CA459619826 | RP1L1 | c.1339A>C (p.Arg447=)
| |
8 | g.10612759T= | CA1763378978 | RP1L1 | c.1339A= (p.Arg447=)
| |
8 | g.10612760C>A | CA370295704 | RP1L1 | c.1338G>T (p.Glu446Asp)
| |
8 | g.10612760C>G | CA370295705 | RP1L1 | c.1338G>C (p.Glu446Asp)
| |
8 | g.10612760C>T | CA459619827 | RP1L1 | c.1338G>A (p.Glu446=)
| gnomAD v4 |
8 | g.10612761T>A | CA370295706 | RP1L1 | c.1337A>T (p.Glu446Val)
| |
8 | g.10612761T>C | CA370295707 | RP1L1 | c.1337A>G (p.Glu446Gly)
| |
8 | g.10612761T>G | CA370295708 | RP1L1 | c.1337A>C (p.Glu446Ala)
| |
8 | g.10612762C>A | CA370295709 | RP1L1 | c.1336G>T (p.Glu446Ter)
| |
8 | g.10612762C>G | CA370295710 | RP1L1 | c.1336G>C (p.Glu446Gln)
| |
8 | g.10612762C>T | CA370295711 | RP1L1 | c.1336G>A (p.Glu446Lys)
| gnomAD v4 COSMIC |
8 | g.10612763C>A | CA171947761 | RP1L1 | c.1335G>T (p.Arg445Ser)
| dbSNP |
8 | g.10612763C= | CA1763378980 | RP1L1 | c.1335G= (p.Arg445=)
| |
8 | g.10612763C>G | CA370295712 | RP1L1 | c.1335G>C (p.Arg445Ser)
| |
8 | g.10612763C>T | CA459619828 | RP1L1 | c.1335G>A (p.Arg445=)
| |
8 | g.10612764C>A | CA370295713 | RP1L1 | c.1334G>T (p.Arg445Met)
| |
8 | g.10612764C>G | CA370295714 | RP1L1 | c.1334G>C (p.Arg445Thr)
| |
8 | g.10612764C>T | CA370295715 | RP1L1 | c.1334G>A (p.Arg445Lys)
| |
8 | g.10612765T>A | CA370295717 | RP1L1 | c.1333A>T (p.Arg445Trp)
| |
8 | g.10612765T>C | CA370295716 | RP1L1 | c.1333A>G (p.Arg445Gly)
| |
8 | g.10612765T>G | CA459619829 | RP1L1 | c.1333A>C (p.Arg445=)
| |
8 | g.10612766C>A | CA4625219 | RP1L1 | c.1332G>T (p.Gly444=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10612766C= | CA1763378982 | RP1L1 | c.1332G= (p.Gly444=)
| |
8 | g.10612766C>G | CA459619831 | RP1L1 | c.1332G>C (p.Gly444=)
| |
8 | g.10612766C>T | CA459619830 | RP1L1 | c.1332G>A (p.Gly444=)
| gnomAD v4 COSMIC |
8 | g.10612767C>A | CA370295720 | RP1L1 | c.1331G>T (p.Gly444Val)
| |
8 | g.10612767C= | CA1763378984 | RP1L1 | c.1331G= (p.Gly444=)
| |
8 | g.10612767C>G | CA370295718 | RP1L1 | c.1331G>C (p.Gly444Ala)
| dbSNP gnomAD v2 gnomAD v4 |
8 | g.10612767C>T | CA370295719 | RP1L1 | c.1331G>A (p.Gly444Glu)
| dbSNP |
8 | g.10612768C>A | CA370295721 | RP1L1 | c.1330G>T (p.Gly444Trp)
| COSMIC |
8 | g.10612768C= | CA1763378986 | RP1L1 | c.1330G= (p.Gly444=)
| |
8 | g.10612768C>G | CA370295722 | RP1L1 | c.1330G>C (p.Gly444Arg)
| |
8 | g.10612768C>T | CA4625220 | RP1L1 | c.1330G>A (p.Gly444Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10612769G>A | CA4625221 | RP1L1 | c.1329C>T (p.Ala443=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10612769G>C | CA459619832 | RP1L1 | c.1329C>G (p.Ala443=)
| dbSNP |
8 | g.10612769G= | CA1763378988 | RP1L1 | c.1329C= (p.Ala443=)
| |
8 | g.10612769G>T | CA459619833 | RP1L1 | c.1329C>A (p.Ala443=)
| gnomAD v4 |
8 | g.10612770G>A | CA370295723 | RP1L1 | c.1328C>T (p.Ala443Val)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
8 | g.10612770G>C | CA4625222 | RP1L1 | c.1328C>G (p.Ala443Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10612770G= | CA1763378990 | RP1L1 | c.1328C= (p.Ala443=)
| |
8 | g.10612770G>T | CA370295724 | RP1L1 | c.1328C>A (p.Ala443Asp)
| gnomAD v4 |
8 | g.10612771C>A | CA370295725 | RP1L1 | c.1327G>T (p.Ala443Ser)
| |
8 | g.10612771C= | CA1763378992 | RP1L1 | c.1327G= (p.Ala443=)
| |
8 | g.10612771C>G | CA370295726 | RP1L1 | c.1327G>C (p.Ala443Pro)
| |
8 | g.10612771C>T | CA370295727 | RP1L1 | c.1327G>A (p.Ala443Thr)
| dbSNP gnomAD v2 gnomAD v4 |
8 | g.10612772A>C | CA459619834 | RP1L1 | c.1326T>G (p.Thr442=)
| |
8 | g.10612772A>G | CA459619835 | RP1L1 | c.1326T>C (p.Thr442=)
| |
8 | g.10612772A>T | CA459619836 | RP1L1 | c.1326T>A (p.Thr442=)
| |
8 | g.10612773G>A | CA4625223 | RP1L1 | c.1325C>T (p.Thr442Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10612773G>C | CA370295729 | RP1L1 | c.1325C>G (p.Thr442Ser)
| |
8 | g.10612773G= | CA1763378995 | RP1L1 | c.1325C= (p.Thr442=)
| |
8 | g.10612773G>T | CA370295728 | RP1L1 | c.1325C>A (p.Thr442Asn)
| |
8 | g.10612774T>A | CA370295730 | RP1L1 | c.1324A>T (p.Thr442Ser)
| dbSNP gnomAD v2 gnomAD v4 |
8 | g.10612774T>C | CA370295731 | RP1L1 | c.1324A>G (p.Thr442Ala)
| dbSNP gnomAD v3 gnomAD v4 |
8 | g.10612774T>G | CA171947768 | RP1L1 | c.1324A>C (p.Thr442Pro)
| dbSNP gnomAD v4 |
8 | g.10612774T= | CA1763378997 | RP1L1 | c.1324A= (p.Thr442=)
| |
8 | g.10612775C>A | CA459619837 | RP1L1 | c.1323G>T (p.Gly441=)
| |
8 | g.10612775C= | CA1763378999 | RP1L1 | c.1323G= (p.Gly441=)
| |
8 | g.10612775C>G | CA459619838 | RP1L1 | c.1323G>C (p.Gly441=)
| gnomAD v4 |
8 | g.10612775C>T | CA4625224 | RP1L1 | c.1323G>A (p.Gly441=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10612776C>A | CA370295734 | RP1L1 | c.1322G>T (p.Gly441Val)
| |
8 | g.10612776C= | CA1763379001 | RP1L1 | c.1322G= (p.Gly441=)
| |
8 | g.10612776C>G | CA370295733 | RP1L1 | c.1322G>C (p.Gly441Ala)
| dbSNP |
8 | g.10612776C>T | CA370295732 | RP1L1 | c.1322G>A (p.Gly441Glu)
| dbSNP gnomAD v3 gnomAD v4 |
8 | g.10612777C>A | CA370295735 | RP1L1 | c.1321G>T (p.Gly441Trp)
| gnomAD v4 |
8 | g.10612777C= | CA1763379003 | RP1L1 | c.1321G= (p.Gly441=)
| |
8 | g.10612777C>G | CA370295736 | RP1L1 | c.1321G>C (p.Gly441Arg)
| dbSNP gnomAD v3 gnomAD v4 |
8 | g.10612777C>T | CA4625225 | RP1L1 | c.1321G>A (p.Gly441Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10612777_10612798del | CA2686113912 | RP1L1 | c.1300_1321del (p.Cys434GlyfsTer?)
| gnomAD v4 |
8 | g.10612778G>A | CA4625226 | RP1L1 | c.1320C>T (p.His440=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10612778G>C | CA370295737 | RP1L1 | c.1320C>G (p.His440Gln)
| |
8 | g.10612778G= | CA1763379005 | RP1L1 | c.1320C= (p.His440=)
| |
8 | g.10612778G>T | CA370295738 | RP1L1 | c.1320C>A (p.His440Gln)
| |
8 | g.10612779T>A | CA370295740 | RP1L1 | c.1319A>T (p.His440Leu)
| |
8 | g.10612779T>C | CA370295739 | RP1L1 | c.1319A>G (p.His440Arg)
| gnomAD v4 |
8 | g.10612779T>G | CA171947772 | RP1L1 | c.1319A>C (p.His440Pro)
| dbSNP |
8 | g.10612779T= | CA1763379009 | RP1L1 | c.1319A= (p.His440=)
| |
8 | g.10612779_10612780delinsTG | CA1763379008 | RP1L1 | c.1318_1319delinsCA (p.His440=)
| |
8 | g.10612780G>A | CA370295741 | RP1L1 | c.1318C>T (p.His440Tyr)
| |
8 | g.10612780G>C | CA370295742 | RP1L1 | c.1318C>G (p.His440Asp)
| |
8 | g.10612780G>T | CA370295743 | RP1L1 | c.1318C>A (p.His440Asn)
| gnomAD v4 |
8 | g.10612781del | CA4625227 | RP1L1 | c.1318del (p.His440ThrfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10612781G>A | CA459619839 | RP1L1 | c.1317C>T (p.Gly439=)
| dbSNP gnomAD v4 |
8 | g.10612781G>C | CA459619840 | RP1L1 | c.1317C>G (p.Gly439=)
| |
8 | g.10612781G= | CA1763379013 | RP1L1 | c.1317C= (p.Gly439=)
| |
8 | g.10612781G>T | CA4625228 | RP1L1 | c.1317C>A (p.Gly439=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10612783_10612797del | CA2686113920 | RP1L1 | c.1303_1317del (p.Ser435_Gly439del)
| gnomAD v4 |
8 | g.10612782C>A | CA370295746 | RP1L1 | c.1316G>T (p.Gly439Val)
| |
8 | g.10612782C= | CA1763379015 | RP1L1 | c.1316G= (p.Gly439=)
| |
8 | g.10612782C>G | CA370295745 | RP1L1 | c.1316G>C (p.Gly439Ala)
| |
8 | g.10612782C>T | CA370295744 | RP1L1 | c.1316G>A (p.Gly439Asp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10612785del | CA2686113921 | RP1L1 | c.1316del (p.Gly439AlafsTer?)
| gnomAD v4 |
8 | g.10612783C>A | CA370295747 | RP1L1 | c.1315G>T (p.Gly439Cys)
| dbSNP gnomAD v2 gnomAD v4 |
8 | g.10612783C= | CA1763379017 | RP1L1 | c.1315G= (p.Gly439=)
| |
8 | g.10612783C>G | CA4625229 | RP1L1 | c.1315G>C (p.Gly439Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10612783C>T | CA370295748 | RP1L1 | c.1315G>A (p.Gly439Ser)
| dbSNP gnomAD v2 gnomAD v4 |
8 | g.10612784C>A | CA370295749 | RP1L1 | c.1314G>T (p.Trp438Cys)
| |
8 | g.10612784C>G | CA370295750 | RP1L1 | c.1314G>C (p.Trp438Cys)
| |
8 | g.10612784C>T | CA370295751 | RP1L1 | c.1314G>A (p.Trp438Ter)
| |
8 | g.10612785C>A | CA370295752 | RP1L1 | c.1313G>T (p.Trp438Leu)
| |
8 | g.10612785C>G | CA370295754 | RP1L1 | c.1313G>C (p.Trp438Ser)
| gnomAD v4 |
8 | g.10612785C>T | CA370295753 | RP1L1 | c.1313G>A (p.Trp438Ter)
| |
8 | g.10612786A>C | CA370295755 | RP1L1 | c.1312T>G (p.Trp438Gly)
| dbSNP gnomAD v3 gnomAD v4 |
8 | g.10612786A>G | CA370295756 | RP1L1 | c.1312T>C (p.Trp438Arg)
| gnomAD v4 |
8 | g.10612786A>T | CA370295757 | RP1L1 | c.1312T>A (p.Trp438Arg)
| |
8 | g.10612787C>A | CA459619841 | RP1L1 | c.1311G>T (p.Leu437=)
| gnomAD v4 |
8 | g.10612787C>G | CA459619842 | RP1L1 | c.1311G>C (p.Leu437=)
| |
8 | g.10612787C>T | CA459619843 | RP1L1 | c.1311G>A (p.Leu437=)
| gnomAD v4 |
8 | g.10612788A= | CA1763379019 | RP1L1 | c.1310T= (p.Leu437=)
| |
8 | g.10612788A>C | CA370295758 | RP1L1 | c.1310T>G (p.Leu437Arg)
| |
8 | g.10612788A>G | CA370295759 | RP1L1 | c.1310T>C (p.Leu437Pro)
| dbSNP gnomAD v2 gnomAD v4 |
8 | g.10612788A>T | CA370295760 | RP1L1 | c.1310T>A (p.Leu437Gln)
| |
8 | g.10612789G>A | CA171947775 | RP1L1 | c.1309C>T (p.Leu437=)
| dbSNP gnomAD v3 gnomAD v4 |
8 | g.10612789G>C | CA370295761 | RP1L1 | c.1309C>G (p.Leu437Val)
| |
8 | g.10612789G= | CA1763379022 | RP1L1 | c.1309C= (p.Leu437=)
| |
8 | g.10612789G>T | CA370295762 | RP1L1 | c.1309C>A (p.Leu437Met)
| gnomAD v4 |
8 | g.10612790G>A | CA171947777 | RP1L1 | c.1308C>T (p.Gly436=)
| dbSNP gnomAD v3 gnomAD v4 |
8 | g.10612790G>C | CA459619844 | RP1L1 | c.1308C>G (p.Gly436=)
| gnomAD v4 |
8 | g.10612790G= | CA1763379024 | RP1L1 | c.1308C= (p.Gly436=)
| |
8 | g.10612790G>T | CA459619845 | RP1L1 | c.1308C>A (p.Gly436=)
| gnomAD v4 |
8 | g.10612791C>A | CA370295763 | RP1L1 | c.1307G>T (p.Gly436Val)
| gnomAD v4 |
8 | g.10612791C>G | CA370295764 | RP1L1 | c.1307G>C (p.Gly436Ala)
| |
8 | g.10612791C>T | CA370295765 | RP1L1 | c.1307G>A (p.Gly436Asp)
| |
8 | g.10612792C>A | CA370295768 | RP1L1 | c.1306G>T (p.Gly436Cys)
| gnomAD v4 |
8 | g.10612792C= | CA1763379026 | RP1L1 | c.1306G= (p.Gly436=)
| |
8 | g.10612792C>G | CA370295767 | RP1L1 | c.1306G>C (p.Gly436Arg)
| gnomAD v4 |
8 | g.10612792C>T | CA370295766 | RP1L1 | c.1306G>A (p.Gly436Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10612793A= | CA1763379028 | RP1L1 | c.1305T= (p.Ser435=)
| |
8 | g.10612793A>C | CA4625230 | RP1L1 | c.1305T>G (p.Ser435Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10612793A>G | CA459619846 | RP1L1 | c.1305T>C (p.Ser435=)
| COSMIC |
8 | g.10612793A>T | CA370295769 | RP1L1 | c.1305T>A (p.Ser435Arg)
| |
8 | g.10612794C>A | CA370295770 | RP1L1 | c.1304G>T (p.Ser435Ile)
| |
8 | g.10612794C>G | CA370295771 | RP1L1 | c.1304G>C (p.Ser435Thr)
| |
8 | g.10612794C>T | CA370295772 | RP1L1 | c.1304G>A (p.Ser435Asn)
| |
8 | g.10612795T>A | CA370295773 | RP1L1 | c.1303A>T (p.Ser435Cys)
| |
8 | g.10612795T>C | CA4625231 | RP1L1 | c.1303A>G (p.Ser435Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10612795T>G | CA370295774 | RP1L1 | c.1303A>C (p.Ser435Arg)
| dbSNP gnomAD v3 gnomAD v4 |
8 | g.10612795T= | CA1763379030 | RP1L1 | c.1303A= (p.Ser435=)
| |
8 | g.10612796G>A | CA459619916 | RP1L1 | c.1302C>T (p.Cys434=)
| gnomAD v4 |
8 | g.10612796G>C | CA370295775 | RP1L1 | c.1302C>G (p.Cys434Trp)
| |
8 | g.10612796G>T | CA370295776 | RP1L1 | c.1302C>A (p.Cys434Ter)
| gnomAD v4 |
8 | g.10612797C>A | CA370295777 | RP1L1 | c.1301G>T (p.Cys434Phe)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10612797C= | CA1763379031 | RP1L1 | c.1301G= (p.Cys434=)
| |
8 | g.10612797C>G | CA370295778 | RP1L1 | c.1301G>C (p.Cys434Ser)
| |
8 | g.10612797C>T | CA370295779 | RP1L1 | c.1301G>A (p.Cys434Tyr)
| dbSNP gnomAD v3 gnomAD v4 |
8 | g.10612798A= | CA1763379033 | RP1L1 | c.1300T= (p.Cys434=)
| |
8 | g.10612798A>C | CA370295780 | RP1L1 | c.1300T>G (p.Cys434Gly)
| |
8 | g.10612798A>G | CA370295781 | RP1L1 | c.1300T>C (p.Cys434Arg)
| |
8 | g.10612798A>T | CA370295782 | RP1L1 | c.1300T>A (p.Cys434Ser)
| dbSNP |
8 | g.10612799G>A | CA4625232 | RP1L1 | c.1299C>T (p.Arg433=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10612799G>C | CA459619920 | RP1L1 | c.1299C>G (p.Arg433=)
| |
8 | g.10612799G= | CA1763379035 | RP1L1 | c.1299C= (p.Arg433=)
| |
8 | g.10612799G>T | CA459619919 | RP1L1 | c.1299C>A (p.Arg433=)
| |
8 | g.10612800C>A | CA370295784 | RP1L1 | c.1298G>T (p.Arg433Leu)
| dbSNP gnomAD v4 |
8 | g.10612800C= | CA1763379037 | RP1L1 | c.1298G= (p.Arg433=)
| |
8 | g.10612800C>G | CA370295783 | RP1L1 | c.1298G>C (p.Arg433Pro)
| |
8 | g.10612800C>T | CA4625233 | RP1L1 | c.1298G>A (p.Arg433His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.10612801G>A | CA4625234 | RP1L1 | c.1297C>T (p.Arg433Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.10612801G>C | CA370295785 | RP1L1 | c.1297C>G (p.Arg433Gly)
| |
8 | g.10612801G= | CA1763379039 | RP1L1 | c.1297C= (p.Arg433=)
| |
8 | g.10612801G>T | CA370295786 | RP1L1 | c.1297C>A (p.Arg433Ser)
| gnomAD v4 |
8 | g.10612802G>A | CA459619931 | RP1L1 | c.1296C>T (p.Val432=)
| gnomAD v4 |
8 | g.10612802G>C | CA459619929 | RP1L1 | c.1296C>G (p.Val432=)
| COSMIC |
8 | g.10612802G>T | CA459619930 | RP1L1 | c.1296C>A (p.Val432=)
| |
8 | g.10612803A>C | CA370295789 | RP1L1 | c.1295T>G (p.Val432Gly)
| |
8 | g.10612803A>G | CA370295788 | RP1L1 | c.1295T>C (p.Val432Ala)
| gnomAD v4 |
8 | g.10612803A>T | CA370295787 | RP1L1 | c.1295T>A (p.Val432Asp)
| |
8 | g.10612804C>A | CA370295790 | RP1L1 | c.1294G>T (p.Val432Phe)
| |
8 | g.10612804C= | CA1763379042 | RP1L1 | c.1294G= (p.Val432=)
| |
8 | g.10612804C>G | CA171947784 | RP1L1 | c.1294G>C (p.Val432Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10612804C>T | CA4625235 | RP1L1 | c.1294G>A (p.Val432Ile)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10612805G>A | CA4625236 | RP1L1 | c.1293C>T (p.His431=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10612805G>C | CA370295791 | RP1L1 | c.1293C>G (p.His431Gln)
| |
8 | g.10612805G= | CA1763379044 | RP1L1 | c.1293C= (p.His431=)
| |
8 | g.10612805G>T | CA370295792 | RP1L1 | c.1293C>A (p.His431Gln)
| gnomAD v4 |
8 | g.10612806T>A | CA370295793 | RP1L1 | c.1292A>T (p.His431Leu)
| |
8 | g.10612806T>C | CA370295795 | RP1L1 | c.1292A>G (p.His431Arg)
| |
8 | g.10612806T>G | CA370295794 | RP1L1 | c.1292A>C (p.His431Pro)
| |
8 | g.10612806T= | CA1763379046 | RP1L1 | c.1292A= (p.His431=)
| |
8 | g.10612807G>A | CA370295796 | RP1L1 | c.1291C>T (p.His431Tyr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10612807G>C | CA370295797 | RP1L1 | c.1291C>G (p.His431Asp)
| dbSNP gnomAD v2 gnomAD v4 |
8 | g.10612807G= | CA1763379048 | RP1L1 | c.1291C= (p.His431=)
| |
8 | g.10612807G>T | CA370295798 | RP1L1 | c.1291C>A (p.His431Asn)
| |
8 | g.10612811_10612836dup | CA580030540 | RP1L1 | c.1266_1291dup (p.His431LeufsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
8 | g.10612808C>A | CA4625237 | RP1L1 | c.1290G>T (p.Gln430His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10612808C= | CA1763379051 | RP1L1 | c.1290G= (p.Gln430=)
| |
8 | g.10612808C>G | CA370295799 | RP1L1 | c.1290G>C (p.Gln430His)
| dbSNP |
8 | g.10612808C>T | CA459619943 | RP1L1 | c.1290G>A (p.Gln430=)
| gnomAD v4 |
8 | g.10612809T>A | CA370295802 | RP1L1 | c.1289A>T (p.Gln430Leu)
| |
8 | g.10612809T>C | CA370295801 | RP1L1 | c.1289A>G (p.Gln430Arg)
| |
8 | g.10612809T>G | CA370295800 | RP1L1 | c.1289A>C (p.Gln430Pro)
| |
8 | g.10612810G>A | CA370295803 | RP1L1 | c.1288C>T (p.Gln430Ter)
| ClinVar dbSNP gnomAD v4 |
8 | g.10612810G>C | CA370295804 | RP1L1 | c.1288C>G (p.Gln430Glu)
| |
8 | g.10612810G>T | CA370295805 | RP1L1 | c.1288C>A (p.Gln430Lys)
| |
8 | g.10612811G>A | CA459619947 | RP1L1 | c.1287C>T (p.Ala429=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10612811G>C | CA459619948 | RP1L1 | c.1287C>G (p.Ala429=)
| gnomAD v4 |
8 | g.10612811G= | CA1763379054 | RP1L1 | c.1287C= (p.Ala429=)
| |
8 | g.10612811G>T | CA459619949 | RP1L1 | c.1287C>A (p.Ala429=)
| gnomAD v4 |