10 | g.47350460A>C | CA376671841 | RBP3 | c.1976A>C (p.Gln659Pro)
| |
10 | g.47350460A>G | CA376671842 | RBP3 | c.1976A>G (p.Gln659Arg)
| |
10 | g.47350460A>T | CA376671843 | RBP3 | c.1976A>T (p.Gln659Leu)
| gnomAD v4 |
10 | g.47350461G>A | CA469782408 | RBP3 | c.1977G>A (p.Gln659=)
| |
10 | g.47350461G>C | CA376671844 | RBP3 | c.1977G>C (p.Gln659His)
| |
10 | g.47350461G>T | CA376671845 | RBP3 | c.1977G>T (p.Gln659His)
| gnomAD v4 |
10 | g.47350462A>C | CA376671846 | RBP3 | c.1978A>C (p.Thr660Pro)
| |
10 | g.47350462A>G | CA376671847 | RBP3 | c.1978A>G (p.Thr660Ala)
| |
10 | g.47350462A>T | CA376671848 | RBP3 | c.1978A>T (p.Thr660Ser)
| |
10 | g.47350463C>A | CA376671849 | RBP3 | c.1979C>A (p.Thr660Asn)
| gnomAD v4 |
10 | g.47350463C>G | CA376671850 | RBP3 | c.1979C>G (p.Thr660Ser)
| ClinVar dbSNP |
10 | g.47350463C>T | CA376671851 | RBP3 | c.1979C>T (p.Thr660Ile)
| |
10 | g.47350464C>A | CA469782417 | RBP3 | c.1980C>A (p.Thr660=)
| |
10 | g.47350464C>G | CA469782414 | RBP3 | c.1980C>G (p.Thr660=)
| |
10 | g.47350464C>T | CA469782415 | RBP3 | c.1980C>T (p.Thr660=)
| gnomAD v4 |
10 | g.47350465A>C | CA376671853 | RBP3 | c.1981A>C (p.Ser661Arg)
| |
10 | g.47350465A>G | CA376671854 | RBP3 | c.1981A>G (p.Ser661Gly)
| gnomAD v4 |
10 | g.47350465A>T | CA376671852 | RBP3 | c.1981A>T (p.Ser661Cys)
| |
10 | g.47350466G>A | CA376671855 | RBP3 | c.1982G>A (p.Ser661Asn)
| |
10 | g.47350466G>C | CA376671856 | RBP3 | c.1982G>C (p.Ser661Thr)
| |
10 | g.47350466G>T | CA376671857 | RBP3 | c.1982G>T (p.Ser661Ile)
| |
10 | g.47350467T>A | CA376671858 | RBP3 | c.1983T>A (p.Ser661Arg)
| |
10 | g.47350467T>C | CA469782424 | RBP3 | c.1983T>C (p.Ser661=)
| |
10 | g.47350467T>G | CA376671859 | RBP3 | c.1983T>G (p.Ser661Arg)
| |
10 | g.47350468G>A | CA376671862 | RBP3 | c.1984G>A (p.Ala662Thr)
| |
10 | g.47350468G>C | CA376671861 | RBP3 | c.1984G>C (p.Ala662Pro)
| |
10 | g.47350468G>T | CA376671860 | RBP3 | c.1984G>T (p.Ala662Ser)
| |
10 | g.47350469C>A | CA376671863 | RBP3 | c.1985C>A (p.Ala662Asp)
| gnomAD v4 |
10 | g.47350469C>G | CA376671864 | RBP3 | c.1985C>G (p.Ala662Gly)
| |
10 | g.47350469C>T | CA376671865 | RBP3 | c.1985C>T (p.Ala662Val)
| |
10 | g.47350470C>A | CA469782431 | RBP3 | c.1986C>A (p.Ala662=)
| dbSNP gnomAD v3 gnomAD v4 |
10 | g.47350470C= | CA1907806531 | RBP3 | c.1986C= (p.Ala662=)
| |
10 | g.47350470C>G | CA469782432 | RBP3 | c.1986C>G (p.Ala662=)
| |
10 | g.47350470C>T | CA469782433 | RBP3 | c.1986C>T (p.Ala662=)
| dbSNP gnomAD v2 gnomAD v4 |
10 | g.47350471C>A | CA376671866 | RBP3 | c.1987C>A (p.Leu663Ile)
| dbSNP |
10 | g.47350471C= | CA1907806533 | RBP3 | c.1987C= (p.Leu663=)
| |
10 | g.47350471C>G | CA376671867 | RBP3 | c.1987C>G (p.Leu663Val)
| |
10 | g.47350471C>T | CA376671868 | RBP3 | c.1987C>T (p.Leu663Phe)
| |
10 | g.47350472T>A | CA376671871 | RBP3 | c.1988T>A (p.Leu663His)
| |
10 | g.47350472T>C | CA376671869 | RBP3 | c.1988T>C (p.Leu663Pro)
| |
10 | g.47350472T>G | CA376671870 | RBP3 | c.1988T>G (p.Leu663Arg)
| |
10 | g.47350473C>A | CA469782440 | RBP3 | c.1989C>A (p.Leu663=)
| |
10 | g.47350473C>G | CA469782438 | RBP3 | c.1989C>G (p.Leu663=)
| dbSNP |
10 | g.47350473C>T | CA469782439 | RBP3 | c.1989C>T (p.Leu663=)
| |
10 | g.47350474C>A | CA376671872 | RBP3 | c.1990C>A (p.Leu664Met)
| |
10 | g.47350474C>G | CA376671873 | RBP3 | c.1990C>G (p.Leu664Val)
| |
10 | g.47350474C>T | CA469782443 | RBP3 | c.1990C>T (p.Leu664=)
| |
10 | g.47350475T>A | CA376671874 | RBP3 | c.1991T>A (p.Leu664Gln)
| |
10 | g.47350475T>C | CA376671875 | RBP3 | c.1991T>C (p.Leu664Pro)
| dbSNP gnomAD v4 |
10 | g.47350475T>G | CA376671876 | RBP3 | c.1991T>G (p.Leu664Arg)
| |
10 | g.47350475T= | CA1907806535 | RBP3 | c.1991T= (p.Leu664=)
| |
10 | g.47350476G>A | CA5487383 | RBP3 | c.1992G>A (p.Leu664=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.47350476G>C | CA206464115 | RBP3 | c.1992G>C (p.Leu664=)
| |
10 | g.47350476G= | CA1907806537 | RBP3 | c.1992G= (p.Leu664=)
| |
10 | g.47350476G>T | CA206464111 | RBP3 | c.1992G>T (p.Leu664=)
| |
10 | g.47350477C>A | CA5487382 | RBP3 | c.1993C>A (p.Arg665=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.47350477C= | CA1907806539 | RBP3 | c.1993C= (p.Arg665=)
| |
10 | g.47350477C>G | CA206464119 | RBP3 | c.1993C>G (p.Arg665Gly)
| |
10 | g.47350477C>T | CA5487381 | RBP3 | c.1993C>T (p.Arg665Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.47350478G>A | CA5487380 | RBP3 | c.1994G>A (p.Arg665Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.47350478G>C | CA376671877 | RBP3 | c.1994G>C (p.Arg665Pro)
| |
10 | g.47350478G= | CA1907806541 | RBP3 | c.1994G= (p.Arg665=)
| |
10 | g.47350478G>T | CA376671878 | RBP3 | c.1994G>T (p.Arg665Leu)
| dbSNP |
10 | g.47350479G>A | CA469782450 | RBP3 | c.1995G>A (p.Arg665=)
| |
10 | g.47350479G>C | CA469782451 | RBP3 | c.1995G>C (p.Arg665=)
| |
10 | g.47350479G>T | CA469782452 | RBP3 | c.1995G>T (p.Arg665=)
| |
10 | g.47350480G>A | CA376671879 | RBP3 | c.1996G>A (p.Ala666Thr)
| gnomAD v4 |
10 | g.47350480G>C | CA376671881 | RBP3 | c.1996G>C (p.Ala666Pro)
| |
10 | g.47350480G>T | CA376671880 | RBP3 | c.1996G>T (p.Ala666Ser)
| |
10 | g.47350481C>A | CA376671882 | RBP3 | c.1997C>A (p.Ala666Asp)
| dbSNP gnomAD v2 gnomAD v4 |
10 | g.47350481C= | CA1907806544 | RBP3 | c.1997C= (p.Ala666=)
| |
10 | g.47350481C>G | CA376671883 | RBP3 | c.1997C>G (p.Ala666Gly)
| |
10 | g.47350481C>T | CA376671884 | RBP3 | c.1997C>T (p.Ala666Val)
| |
10 | g.47350482del | CA2741091819 | RBP3 | c.1998del (p.Lys667SerfsTer?)
| |
10 | g.47350482C>A | CA206464122 | RBP3 | c.1998C>A (p.Ala666=)
| |
10 | g.47350482C= | CA1907806545 | RBP3 | c.1998C= (p.Ala666=)
| |
10 | g.47350482C>G | CA206464125 | RBP3 | c.1998C>G (p.Ala666=)
| |
10 | g.47350482C>T | CA5487379 | RBP3 | c.1998C>T (p.Ala666=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.47350483A= | CA1907806547 | RBP3 | c.1999A= (p.Lys667=)
| |
10 | g.47350483A>C | CA376671885 | RBP3 | c.1999A>C (p.Lys667Gln)
| |
10 | g.47350483A>G | CA376671886 | RBP3 | c.1999A>G (p.Lys667Glu)
| dbSNP |
10 | g.47350483A>T | CA376671887 | RBP3 | c.1999A>T (p.Lys667Ter)
| |
10 | g.47350484A>C | CA376671888 | RBP3 | c.2000A>C (p.Lys667Thr)
| |
10 | g.47350484A>G | CA376671889 | RBP3 | c.2000A>G (p.Lys667Arg)
| |
10 | g.47350484A>T | CA376671890 | RBP3 | c.2000A>T (p.Lys667Met)
| |
10 | g.47350485G>A | CA206464131 | RBP3 | c.2001G>A (p.Lys667=)
| dbSNP gnomAD v2 gnomAD v4 |
10 | g.47350485G>C | CA206464138 | RBP3 | c.2001G>C (p.Lys667Asn)
| |
10 | g.47350485G= | CA1907806549 | RBP3 | c.2001G= (p.Lys667=)
| |
10 | g.47350485G>T | CA5487378 | RBP3 | c.2001G>T (p.Lys667Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.47350486C>A | CA376671891 | RBP3 | c.2002C>A (p.Leu668Met)
| gnomAD v4 |
10 | g.47350486C= | CA1907806551 | RBP3 | c.2002C= (p.Leu668=)
| |
10 | g.47350486C>G | CA376671892 | RBP3 | c.2002C>G (p.Leu668Val)
| dbSNP gnomAD v3 gnomAD v4 |
10 | g.47350486C>T | CA5487377 | RBP3 | c.2002C>T (p.Leu668=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.47350487T>A | CA376671893 | RBP3 | c.2003T>A (p.Leu668Gln)
| |
10 | g.47350487T>C | CA376671894 | RBP3 | c.2003T>C (p.Leu668Pro)
| |
10 | g.47350487T>G | CA376671895 | RBP3 | c.2003T>G (p.Leu668Arg)
| |
10 | g.47350487_47350488delinsTG | CA1907806552 | RBP3 | c.2003_2004delinsTG (p.Leu668=)
| |
10 | g.47350488G>A | CA469782470 | RBP3 | c.2004G>A (p.Leu668=)
| dbSNP gnomAD v2 gnomAD v4 |
10 | g.47350488G>C | CA469782471 | RBP3 | c.2004G>C (p.Leu668=)
| |
10 | g.47350488G= | CA1907806555 | RBP3 | c.2004G= (p.Leu668=)
| |
10 | g.47350488G>T | CA469782472 | RBP3 | c.2004G>T (p.Leu668=)
| gnomAD v4 |
10 | g.47350489del | CA1907806554 | RBP3 | c.2005del (p.Ala669ProfsTer?)
| dbSNP |
10 | g.47350489G>A | CA376671896 | RBP3 | c.2005G>A (p.Ala669Thr)
| dbSNP gnomAD v2 gnomAD v4 |
10 | g.47350489G>C | CA376671897 | RBP3 | c.2005G>C (p.Ala669Pro)
| |
10 | g.47350489G= | CA1907806558 | RBP3 | c.2005G= (p.Ala669=)
| |
10 | g.47350489G>T | CA376671898 | RBP3 | c.2005G>T (p.Ala669Ser)
| dbSNP |
10 | g.47350490C>A | CA376671899 | RBP3 | c.2006C>A (p.Ala669Asp)
| |
10 | g.47350490C>G | CA376671900 | RBP3 | c.2006C>G (p.Ala669Gly)
| ClinVar |
10 | g.47350490C>T | CA376671901 | RBP3 | c.2006C>T (p.Ala669Val)
| |
10 | g.47350491C>A | CA469782474 | RBP3 | c.2007C>A (p.Ala669=)
| |
10 | g.47350491C= | CA1907806560 | RBP3 | c.2007C= (p.Ala669=)
| |
10 | g.47350491C>G | CA469782477 | RBP3 | c.2007C>G (p.Ala669=)
| |
10 | g.47350491C>T | CA469782480 | RBP3 | c.2007C>T (p.Ala669=)
| dbSNP gnomAD v2 |
10 | g.47350492C>A | CA376671902 | RBP3 | c.2008C>A (p.Gln670Lys)
| |
10 | g.47350492C= | CA1907806562 | RBP3 | c.2008C= (p.Gln670=)
| |
10 | g.47350492C>G | CA376671903 | RBP3 | c.2008C>G (p.Gln670Glu)
| dbSNP gnomAD v3 gnomAD v4 |
10 | g.47350492C>T | CA376671904 | RBP3 | c.2008C>T (p.Gln670Ter)
| |
10 | g.47350493A>C | CA376671905 | RBP3 | c.2009A>C (p.Gln670Pro)
| |
10 | g.47350493A>G | CA376671907 | RBP3 | c.2009A>G (p.Gln670Arg)
| |
10 | g.47350493A>T | CA376671906 | RBP3 | c.2009A>T (p.Gln670Leu)
| |
10 | g.47350494G>A | CA469782487 | RBP3 | c.2010G>A (p.Gln670=)
| |
10 | g.47350494G>C | CA376671908 | RBP3 | c.2010G>C (p.Gln670His)
| |
10 | g.47350494G>T | CA376671909 | RBP3 | c.2010G>T (p.Gln670His)
| |
10 | g.47350495G>A | CA376671910 | RBP3 | c.2011G>A (p.Gly671Ser)
| gnomAD v4 |
10 | g.47350495G>C | CA376671912 | RBP3 | c.2011G>C (p.Gly671Arg)
| |
10 | g.47350495G>T | CA376671911 | RBP3 | c.2011G>T (p.Gly671Cys)
| |
10 | g.47350496G>A | CA10628590 | RBP3 | c.2012G>A (p.Gly671Asp)
| ClinVar dbSNP gnomAD v4 |
10 | g.47350496G>C | CA376671914 | RBP3 | c.2012G>C (p.Gly671Ala)
| gnomAD v4 |
10 | g.47350496G= | CA1907806564 | RBP3 | c.2012G= (p.Gly671=)
| |
10 | g.47350496G>T | CA376671913 | RBP3 | c.2012G>T (p.Gly671Val)
| |
10 | g.47350497C>A | CA206464158 | RBP3 | c.2013C>A (p.Gly671=)
| |
10 | g.47350497C= | CA1907806567 | RBP3 | c.2013C= (p.Gly671=)
| |
10 | g.47350497C>G | CA206464171 | RBP3 | c.2013C>G (p.Gly671=)
| |
10 | g.47350497C>T | CA5487376 | RBP3 | c.2013C>T (p.Gly671=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.47350498G>A | CA376671915 | RBP3 | c.2014G>A (p.Ala672Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.47350498G>C | CA376671917 | RBP3 | c.2014G>C (p.Ala672Pro)
| |
10 | g.47350498G= | CA1907806569 | RBP3 | c.2014G= (p.Ala672=)
| |
10 | g.47350498G>T | CA376671916 | RBP3 | c.2014G>T (p.Ala672Ser)
| gnomAD v4 |
10 | g.47350499C>A | CA376671918 | RBP3 | c.2015C>A (p.Ala672Asp)
| |
10 | g.47350499C= | CA1907806572 | RBP3 | c.2015C= (p.Ala672=)
| |
10 | g.47350499C>G | CA376671919 | RBP3 | c.2015C>G (p.Ala672Gly)
| |
10 | g.47350499C>T | CA206464176 | RBP3 | c.2015C>T (p.Ala672Val)
| dbSNP |
10 | g.47350500C>A | CA469782495 | RBP3 | c.2016C>A (p.Ala672=)
| |
10 | g.47350500C= | CA1907806573 | RBP3 | c.2016C= (p.Ala672=)
| |
10 | g.47350500C>G | CA469782497 | RBP3 | c.2016C>G (p.Ala672=)
| dbSNP |
10 | g.47350500C>T | CA469782498 | RBP3 | c.2016C>T (p.Ala672=)
| |
10 | g.47350501T>A | CA376671920 | RBP3 | c.2017T>A (p.Tyr673Asn)
| |
10 | g.47350501T>C | CA376671921 | RBP3 | c.2017T>C (p.Tyr673His)
| |
10 | g.47350501T>G | CA376671922 | RBP3 | c.2017T>G (p.Tyr673Asp)
| |
10 | g.47350502A>C | CA376671923 | RBP3 | c.2018A>C (p.Tyr673Ser)
| |
10 | g.47350502A>G | CA376671924 | RBP3 | c.2018A>G (p.Tyr673Cys)
| |
10 | g.47350502A>T | CA376671925 | RBP3 | c.2018A>T (p.Tyr673Phe)
| |
10 | g.47350503C>A | CA376671926 | RBP3 | c.2019C>A (p.Tyr673Ter)
| |
10 | g.47350503C>G | CA376671927 | RBP3 | c.2019C>G (p.Tyr673Ter)
| |
10 | g.47350503C>T | CA469782508 | RBP3 | c.2019C>T (p.Tyr673=)
| gnomAD v4 |
10 | g.47350504C>A | CA376671928 | RBP3 | c.2020C>A (p.Arg674Ser)
| |
10 | g.47350504C= | CA1907806575 | RBP3 | c.2020C= (p.Arg674=)
| |
10 | g.47350504C>G | CA376671929 | RBP3 | c.2020C>G (p.Arg674Gly)
| dbSNP gnomAD v4 |
10 | g.47350504C>T | CA5487375 | RBP3 | c.2020C>T (p.Arg674Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.47350505G>A | CA5487374 | RBP3 | c.2021G>A (p.Arg674His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.47350505G>C | CA376671931 | RBP3 | c.2021G>C (p.Arg674Pro)
| |
10 | g.47350505G= | CA1907806577 | RBP3 | c.2021G= (p.Arg674=)
| |
10 | g.47350505G>T | CA376671930 | RBP3 | c.2021G>T (p.Arg674Leu)
| |
10 | g.47350506C>A | CA469782510 | RBP3 | c.2022C>A (p.Arg674=)
| |
10 | g.47350506C>G | CA469782512 | RBP3 | c.2022C>G (p.Arg674=)
| |
10 | g.47350506C>T | CA469782511 | RBP3 | c.2022C>T (p.Arg674=)
| gnomAD v4 |
10 | g.47350507A= | CA1907806579 | RBP3 | c.2023A= (p.Thr675=)
| |
10 | g.47350507A>C | CA376671932 | RBP3 | c.2023A>C (p.Thr675Pro)
| |
10 | g.47350507A>G | CA376671933 | RBP3 | c.2023A>G (p.Thr675Ala)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.47350507A>T | CA376671934 | RBP3 | c.2023A>T (p.Thr675Ser)
| |
10 | g.47350508C>A | CA376671935 | RBP3 | c.2024C>A (p.Thr675Lys)
| |
10 | g.47350508C= | CA1907806582 | RBP3 | c.2024C= (p.Thr675=)
| |
10 | g.47350508C>G | CA376671936 | RBP3 | c.2024C>G (p.Thr675Arg)
| |
10 | g.47350508C>T | CA350934 | RBP3 | c.2024C>T (p.Thr675Ile)
| ClinVar dbSNP |
10 | g.47350509A>C | CA469782519 | RBP3 | c.2025A>C (p.Thr675=)
| |
10 | g.47350509A>G | CA469782520 | RBP3 | c.2025A>G (p.Thr675=)
| |
10 | g.47350509A>T | CA469782521 | RBP3 | c.2025A>T (p.Thr675=)
| |
10 | g.47350510G>A | CA376671937 | RBP3 | c.2026G>A (p.Ala676Thr)
| dbSNP gnomAD v2 gnomAD v4 |
10 | g.47350510G>C | CA376671938 | RBP3 | c.2026G>C (p.Ala676Pro)
| |
10 | g.47350510G= | CA1907806584 | RBP3 | c.2026G= (p.Ala676=)
| |
10 | g.47350510G>T | CA376671939 | RBP3 | c.2026G>T (p.Ala676Ser)
| |
10 | g.47350511C>A | CA206464177 | RBP3 | c.2027C>A (p.Ala676Asp)
| |
10 | g.47350511C= | CA1907806587 | RBP3 | c.2027C= (p.Ala676=)
| |
10 | g.47350511C>G | CA206464182 | RBP3 | c.2027C>G (p.Ala676Gly)
| |
10 | g.47350511C>T | CA5487373 | RBP3 | c.2027C>T (p.Ala676Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.47350512T>A | CA469782525 | RBP3 | c.2028T>A (p.Ala676=)
| |
10 | g.47350512T>C | CA469782528 | RBP3 | c.2028T>C (p.Ala676=)
| ClinVar gnomAD v4 |
10 | g.47350512T>G | CA469782530 | RBP3 | c.2028T>G (p.Ala676=)
| |
10 | g.47350513G>A | CA376671940 | RBP3 | c.2029G>A (p.Val677Met)
| |
10 | g.47350513G>C | CA376671941 | RBP3 | c.2029G>C (p.Val677Leu)
| |
10 | g.47350513G>T | CA376671942 | RBP3 | c.2029G>T (p.Val677Leu)
| |
10 | g.47350514T>A | CA376671943 | RBP3 | c.2030T>A (p.Val677Glu)
| |
10 | g.47350514T>C | CA376671944 | RBP3 | c.2030T>C (p.Val677Ala)
| dbSNP gnomAD v2 gnomAD v4 |
10 | g.47350514T>G | CA376671945 | RBP3 | c.2030T>G (p.Val677Gly)
| |
10 | g.47350514T= | CA1907806589 | RBP3 | c.2030T= (p.Val677=)
| |
10 | g.47350517_47350531del | CA2609024851 | RBP3 | c.2033_2047del (p.Asp678_Leu682del)
| gnomAD v4 |
10 | g.47350515G>A | CA469782532 | RBP3 | c.2031G>A (p.Val677=)
| |
10 | g.47350515G>C | CA469782533 | RBP3 | c.2031G>C (p.Val677=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.47350515G= | CA1907806591 | RBP3 | c.2031G= (p.Val677=)
| |
10 | g.47350515G>T | CA469782534 | RBP3 | c.2031G>T (p.Val677=)
| |
10 | g.47350516G>A | CA376671946 | RBP3 | c.2032G>A (p.Asp678Asn)
| |
10 | g.47350516G>C | CA376671947 | RBP3 | c.2032G>C (p.Asp678His)
| |
10 | g.47350516G>T | CA376671948 | RBP3 | c.2032G>T (p.Asp678Tyr)
| |
10 | g.47350517A= | CA1907806593 | RBP3 | c.2033A= (p.Asp678=)
| |
10 | g.47350517A>C | CA206464183 | RBP3 | c.2033A>C (p.Asp678Ala)
| |
10 | g.47350517A>G | CA5487372 | RBP3 | c.2033A>G (p.Asp678Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.47350517A>T | CA206464184 | RBP3 | c.2033A>T (p.Asp678Val)
| |
10 | g.47350518C>A | CA376671950 | RBP3 | c.2034C>A (p.Asp678Glu)
| |
10 | g.47350518C>G | CA376671949 | RBP3 | c.2034C>G (p.Asp678Glu)
| |
10 | g.47350518C>T | CA469782535 | RBP3 | c.2034C>T (p.Asp678=)
| |
10 | g.47350519T>A | CA376671951 | RBP3 | c.2035T>A (p.Leu679Met)
| |
10 | g.47350519T>C | CA469782536 | RBP3 | c.2035T>C (p.Leu679=)
| dbSNP |
10 | g.47350519T>G | CA376671952 | RBP3 | c.2035T>G (p.Leu679Val)
| |
10 | g.47350520_47350525dup | CA2574540257 | RBP3 | c.2036_2041dup (p.Glu680_Ser681insLeuGlu)
| |
10 | g.47350520T>A | CA376671953 | RBP3 | c.2036T>A (p.Leu679Ter)
| |
10 | g.47350520T>C | CA376671954 | RBP3 | c.2036T>C (p.Leu679Ser)
| |
10 | g.47350520T>G | CA376671955 | RBP3 | c.2036T>G (p.Leu679Trp)
| |
10 | g.47350521G>A | CA469782538 | RBP3 | c.2037G>A (p.Leu679=)
| dbSNP gnomAD v3 gnomAD v4 |
10 | g.47350521G>C | CA376671956 | RBP3 | c.2037G>C (p.Leu679Phe)
| |
10 | g.47350521G= | CA1907806595 | RBP3 | c.2037G= (p.Leu679=)
| |
10 | g.47350521G>T | CA376671957 | RBP3 | c.2037G>T (p.Leu679Phe)
| |
10 | g.47350522del | CA2787867037 | RBP3 | c.2038del (p.Glu680SerfsTer21)
| |
10 | g.47350522G>A | CA376671958 | RBP3 | c.2038G>A (p.Glu680Lys)
| |
10 | g.47350522G>C | CA376671959 | RBP3 | c.2038G>C (p.Glu680Gln)
| |
10 | g.47350522G>T | CA376671960 | RBP3 | c.2038G>T (p.Glu680Ter)
| |
10 | g.47350523A>C | CA376671961 | RBP3 | c.2039A>C (p.Glu680Ala)
| dbSNP |
10 | g.47350523A>G | CA376671962 | RBP3 | c.2039A>G (p.Glu680Gly)
| |
10 | g.47350523A>T | CA376671963 | RBP3 | c.2039A>T (p.Glu680Val)
| dbSNP |
10 | g.47350524G>A | CA469782541 | RBP3 | c.2040G>A (p.Glu680=)
| |
10 | g.47350524G>C | CA376671965 | RBP3 | c.2040G>C (p.Glu680Asp)
| |
10 | g.47350524G>T | CA376671964 | RBP3 | c.2040G>T (p.Glu680Asp)
| |
10 | g.47350525T>A | CA376671966 | RBP3 | c.2041T>A (p.Ser681Thr)
| |
10 | g.47350525T>C | CA376671968 | RBP3 | c.2041T>C (p.Ser681Pro)
| gnomAD v4 |
10 | g.47350525T>G | CA376671967 | RBP3 | c.2041T>G (p.Ser681Ala)
| gnomAD v4 |
10 | g.47350526C>A | CA206464187 | RBP3 | c.2042C>A (p.Ser681Tyr)
| dbSNP |
10 | g.47350526C= | CA1907806596 | RBP3 | c.2042C= (p.Ser681=)
| |
10 | g.47350526C>G | CA206464191 | RBP3 | c.2042C>G (p.Ser681Cys)
| |
10 | g.47350526C>T | CA5487371 | RBP3 | c.2042C>T (p.Ser681Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.47350527T>A | CA469782542 | RBP3 | c.2043T>A (p.Ser681=)
| |
10 | g.47350527T>C | CA469782543 | RBP3 | c.2043T>C (p.Ser681=)
| |
10 | g.47350527T>G | CA469782545 | RBP3 | c.2043T>G (p.Ser681=)
| |
10 | g.47350528C>A | CA376671969 | RBP3 | c.2044C>A (p.Leu682Met)
| |
10 | g.47350528C>G | CA376671970 | RBP3 | c.2044C>G (p.Leu682Val)
| gnomAD v4 |
10 | g.47350528C>T | CA469782547 | RBP3 | c.2044C>T (p.Leu682=)
| |
10 | g.47350529T>A | CA376671971 | RBP3 | c.2045T>A (p.Leu682Gln)
| |
10 | g.47350529T>C | CA376671972 | RBP3 | c.2045T>C (p.Leu682Pro)
| dbSNP gnomAD v2 gnomAD v4 |
10 | g.47350529T>G | CA376671973 | RBP3 | c.2045T>G (p.Leu682Arg)
| |
10 | g.47350529T= | CA1907806598 | RBP3 | c.2045T= (p.Leu682=)
| |
10 | g.47350530G>A | CA469782552 | RBP3 | c.2046G>A (p.Leu682=)
| |
10 | g.47350530G>C | CA469782554 | RBP3 | c.2046G>C (p.Leu682=)
| |
10 | g.47350530G>T | CA469782555 | RBP3 | c.2046G>T (p.Leu682=)
| |
10 | g.47350531G>A | CA376671974 | RBP3 | c.2047G>A (p.Ala683Thr)
| ClinVar dbSNP |
10 | g.47350531G>C | CA376671975 | RBP3 | c.2047G>C (p.Ala683Pro)
| |
10 | g.47350531G>T | CA376671976 | RBP3 | c.2047G>T (p.Ala683Ser)
| |
10 | g.47350532C>A | CA376671979 | RBP3 | c.2048C>A (p.Ala683Asp)
| dbSNP gnomAD v4 |
10 | g.47350532C= | CA1907806600 | RBP3 | c.2048C= (p.Ala683=)
| |
10 | g.47350532C>G | CA376671978 | RBP3 | c.2048C>G (p.Ala683Gly)
| dbSNP gnomAD v2 gnomAD v4 |
10 | g.47350532C>T | CA376671977 | RBP3 | c.2048C>T (p.Ala683Val)
| gnomAD v4 |
10 | g.47350533C>A | CA469782556 | RBP3 | c.2049C>A (p.Ala683=)
| gnomAD v4 |
10 | g.47350533C>G | CA469782557 | RBP3 | c.2049C>G (p.Ala683=)
| |
10 | g.47350533C>T | CA469782558 | RBP3 | c.2049C>T (p.Ala683=)
| gnomAD v4 |
10 | g.47350534T>A | CA376671980 | RBP3 | c.2050T>A (p.Ser684Thr)
| |
10 | g.47350534T>C | CA376671981 | RBP3 | c.2050T>C (p.Ser684Pro)
| |
10 | g.47350534T>G | CA376671982 | RBP3 | c.2050T>G (p.Ser684Ala)
| |
10 | g.47350535C>A | CA376671983 | RBP3 | c.2051C>A (p.Ser684Tyr)
| |
10 | g.47350535C>G | CA376671984 | RBP3 | c.2051C>G (p.Ser684Cys)
| |
10 | g.47350535C>T | CA376671985 | RBP3 | c.2051C>T (p.Ser684Phe)
| |
10 | g.47350536T>A | CA469782560 | RBP3 | c.2052T>A (p.Ser684=)
| |
10 | g.47350536T>C | CA469782561 | RBP3 | c.2052T>C (p.Ser684=)
| |
10 | g.47350536T>G | CA469782562 | RBP3 | c.2052T>G (p.Ser684=)
| |
10 | g.47350536_47350543delinsTCAGCTCA | CA1907806602 | RBP3 | c.2052_2059delinsTCAGCTCA (p.Ser684=)
| |
10 | g.47350537C>A | CA206464197 | RBP3 | c.2053C>A (p.Gln685Lys)
| |
10 | g.47350537C= | CA1907806604 | RBP3 | c.2053C= (p.Gln685=)
| |
10 | g.47350537C>G | CA206464199 | RBP3 | c.2053C>G (p.Gln685Glu)
| |
10 | g.47350537C>T | CA376671986 | RBP3 | c.2053C>T (p.Gln685Ter)
| dbSNP gnomAD v4 |
10 | g.47350541_47350547del | CA1907806603 | RBP3 | c.2057_2063del (p.Leu686GlnfsTer13)
| dbSNP |
10 | g.47350538A>C | CA376671987 | RBP3 | c.2054A>C (p.Gln685Pro)
| |
10 | g.47350538A>G | CA376671988 | RBP3 | c.2054A>G (p.Gln685Arg)
| |
10 | g.47350538A>T | CA376671989 | RBP3 | c.2054A>T (p.Gln685Leu)
| |
10 | g.47350539G>A | CA469782564 | RBP3 | c.2055G>A (p.Gln685=)
| dbSNP gnomAD v2 gnomAD v4 |
10 | g.47350539G>C | CA376671991 | RBP3 | c.2055G>C (p.Gln685His)
| |
10 | g.47350539G= | CA1907806606 | RBP3 | c.2055G= (p.Gln685=)
| |
10 | g.47350539G>T | CA376671990 | RBP3 | c.2055G>T (p.Gln685His)
| gnomAD v4 |
10 | g.47350540C>A | CA376671992 | RBP3 | c.2056C>A (p.Leu686Ile)
| |
10 | g.47350540C= | CA1907806608 | RBP3 | c.2056C= (p.Leu686=)
| |
10 | g.47350540C>G | CA376671993 | RBP3 | c.2056C>G (p.Leu686Val)
| |
10 | g.47350540C>T | CA376671994 | RBP3 | c.2056C>T (p.Leu686Phe)
| dbSNP gnomAD v4 |
10 | g.47350541T>A | CA376671995 | RBP3 | c.2057T>A (p.Leu686His)
| |
10 | g.47350541T>C | CA376671996 | RBP3 | c.2057T>C (p.Leu686Pro)
| |
10 | g.47350541T>G | CA376671997 | RBP3 | c.2057T>G (p.Leu686Arg)
| |
10 | g.47350541_47350549del | CA2609024852 | RBP3 | c.2057_2065del (p.Leu686_Asp689delinsHis)
| gnomAD v4 |
10 | g.47350542C>A | CA469782570 | RBP3 | c.2058C>A (p.Leu686=)
| |
10 | g.47350542C>G | CA469782569 | RBP3 | c.2058C>G (p.Leu686=)
| |
10 | g.47350542C>T | CA469782568 | RBP3 | c.2058C>T (p.Leu686=)
| |
10 | g.47350543A= | CA1907806610 | RBP3 | c.2059A= (p.Thr687=)
| |
10 | g.47350543A>C | CA206464201 | RBP3 | c.2059A>C (p.Thr687Pro)
| gnomAD v4 |
10 | g.47350543A>G | CA5487370 | RBP3 | c.2059A>G (p.Thr687Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.47350543A>T | CA206464204 | RBP3 | c.2059A>T (p.Thr687Ser)
| |
10 | g.47350544C>A | CA376671998 | RBP3 | c.2060C>A (p.Thr687Lys)
| |
10 | g.47350544C>G | CA376671999 | RBP3 | c.2060C>G (p.Thr687Arg)
| |
10 | g.47350544C>T | CA376672000 | RBP3 | c.2060C>T (p.Thr687Ile)
| |
10 | g.47350545A>C | CA469782574 | RBP3 | c.2061A>C (p.Thr687=)
| |
10 | g.47350545A>G | CA469782575 | RBP3 | c.2061A>G (p.Thr687=)
| |
10 | g.47350545A>T | CA469782576 | RBP3 | c.2061A>T (p.Thr687=)
| |
10 | g.47350546G>A | CA376672002 | RBP3 | c.2062G>A (p.Ala688Thr)
| |
10 | g.47350546G>C | CA376672003 | RBP3 | c.2062G>C (p.Ala688Pro)
| |
10 | g.47350546G>T | CA376672001 | RBP3 | c.2062G>T (p.Ala688Ser)
| |
10 | g.47350547C>A | CA376672004 | RBP3 | c.2063C>A (p.Ala688Glu)
| |
10 | g.47350547C= | CA1907806613 | RBP3 | c.2063C= (p.Ala688=)
| |
10 | g.47350547C>G | CA376672005 | RBP3 | c.2063C>G (p.Ala688Gly)
| |
10 | g.47350547C>T | CA350973 | RBP3 | c.2063C>T (p.Ala688Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.47350548A>C | CA469782581 | RBP3 | c.2064A>C (p.Ala688=)
| |
10 | g.47350548A>G | CA469782582 | RBP3 | c.2064A>G (p.Ala688=)
| |
10 | g.47350548A>T | CA469782583 | RBP3 | c.2064A>T (p.Ala688=)
| |
10 | g.47350549G>A | CA376672006 | RBP3 | c.2065G>A (p.Asp689Asn)
| gnomAD v4 |
10 | g.47350549G>C | CA376672007 | RBP3 | c.2065G>C (p.Asp689His)
| |
10 | g.47350549G= | CA1907806615 | RBP3 | c.2065G= (p.Asp689=)
| |
10 | g.47350549G>T | CA376672008 | RBP3 | c.2065G>T (p.Asp689Tyr)
| dbSNP |
10 | g.47350550A= | CA1907806616 | RBP3 | c.2066A= (p.Asp689=)
| |
10 | g.47350550A>C | CA376672009 | RBP3 | c.2066A>C (p.Asp689Ala)
| gnomAD v4 |
10 | g.47350550A>G | CA376672011 | RBP3 | c.2066A>G (p.Asp689Gly)
| dbSNP |
10 | g.47350550A>T | CA376672010 | RBP3 | c.2066A>T (p.Asp689Val)
| |
10 | g.47350550_47350551insTG | CA2609024853 | RBP3 | c.2066_2067insTG (p.Leu690AlafsTer12)
| gnomAD v4 |
10 | g.47350551C>A | CA376672012 | RBP3 | c.2067C>A (p.Asp689Glu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.47350551C= | CA1907806620 | RBP3 | c.2067C= (p.Asp689=)
| |
10 | g.47350551C>G | CA376672013 | RBP3 | c.2067C>G (p.Asp689Glu)
| dbSNP gnomAD v2 gnomAD v4 |
10 | g.47350551C>T | CA469782584 | RBP3 | c.2067C>T (p.Asp689=)
| |
10 | g.47350552C>A | CA376672014 | RBP3 | c.2068C>A (p.Leu690Ile)
| |
10 | g.47350552C>G | CA376672015 | RBP3 | c.2068C>G (p.Leu690Val)
| |
10 | g.47350552C>T | CA376672016 | RBP3 | c.2068C>T (p.Leu690Phe)
| |
10 | g.47350553T>A | CA376672018 | RBP3 | c.2069T>A (p.Leu690His)
| |
10 | g.47350553T>C | CA376672019 | RBP3 | c.2069T>C (p.Leu690Pro)
| |
10 | g.47350553T>G | CA376672017 | RBP3 | c.2069T>G (p.Leu690Arg)
| |
10 | g.47350554C>A | CA469782100 | RBP3 | c.2070C>A (p.Leu690=)
| |
10 | g.47350554C>G | CA469782098 | RBP3 | c.2070C>G (p.Leu690=)
| |
10 | g.47350554C>T | CA469782099 | RBP3 | c.2070C>T (p.Leu690=)
| |
10 | g.47350555C>A | CA376672021 | RBP3 | c.2071C>A (p.Gln691Lys)
| |
10 | g.47350555C>G | CA376672020 | RBP3 | c.2071C>G (p.Gln691Glu)
| |
10 | g.47350555C>T | CA376672022 | RBP3 | c.2071C>T (p.Gln691Ter)
| |
10 | g.47350556A>C | CA376672023 | RBP3 | c.2072A>C (p.Gln691Pro)
| |
10 | g.47350556A>G | CA376672024 | RBP3 | c.2072A>G (p.Gln691Arg)
| |
10 | g.47350556A>T | CA376672025 | RBP3 | c.2072A>T (p.Gln691Leu)
| |
10 | g.47350557G>A | CA469782109 | RBP3 | c.2073G>A (p.Gln691=)
| |
10 | g.47350557G>C | CA376672026 | RBP3 | c.2073G>C (p.Gln691His)
| |
10 | g.47350557G>T | CA376672027 | RBP3 | c.2073G>T (p.Gln691His)
| |
10 | g.47350558G>A | CA5487369 | RBP3 | c.2074G>A (p.Glu692Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.47350558G>C | CA206464209 | RBP3 | c.2074G>C (p.Glu692Gln)
| |
10 | g.47350558G= | CA1907806622 | RBP3 | c.2074G= (p.Glu692=)
| |
10 | g.47350558G>T | CA206464210 | RBP3 | c.2074G>T (p.Glu692Ter)
| ClinVar dbSNP gnomAD v4 |
10 | g.47350559A= | CA1907806625 | RBP3 | c.2075A= (p.Glu692=)
| |
10 | g.47350559A>C | CA206464211 | RBP3 | c.2075A>C (p.Glu692Ala)
| |
10 | g.47350559A>G | CA5487368 | RBP3 | c.2075A>G (p.Glu692Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.47350559A>T | CA206464212 | RBP3 | c.2075A>T (p.Glu692Val)
| |
10 | g.47350560G>A | CA469782117 | RBP3 | c.2076G>A (p.Glu692=)
| dbSNP gnomAD v3 gnomAD v4 |
10 | g.47350560G>C | CA206464215 | RBP3 | c.2076G>C (p.Glu692Asp)
| |
10 | g.47350560G= | CA1907806627 | RBP3 | c.2076G= (p.Glu692=)
| |
10 | g.47350560G>T | CA206464233 | RBP3 | c.2076G>T (p.Glu692Asp)
| gnomAD v4 |