Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.21324647C>ACA484986019RPGRIP1c.1792C>A (p.Arg598=)
c.688+2643C>A (n.688+2643C>A)
n.250C>A
n.724C>A
c.178C>A (p.Arg60=)
c.297-78C>A
c.134C>A (p.Pro45Gln)
c.217C>A (p.Arg73=)
c.1681+2643C>A (n.1681+2643C>A)
c.1678C>A (p.Arg560=)
c.718C>A (p.Arg240=)
c.685C>A (p.Arg229=)
c.166C>A (p.Arg56=)
c.1759C>A (p.Arg587=)
c.190+2643C>A (n.190+2643C>A)
14g.21324647C=CA2122459961RPGRIP1c.1792C= (p.Arg598=)
c.688+2643C= (n.688+2643C=)
n.250C=
n.724C=
c.178C= (p.Arg60=)
c.297-78C=
c.134C= (p.Pro45=)
c.217C= (p.Arg73=)
c.1681+2643C= (n.1681+2643C=)
c.1678C= (p.Arg560=)
c.718C= (p.Arg240=)
c.685C= (p.Arg229=)
c.166C= (p.Arg56=)
c.1759C= (p.Arg587=)
c.190+2643C= (n.190+2643C=)
14g.21324647C>GCA388866861RPGRIP1c.1792C>G (p.Arg598Gly)
c.688+2643C>G (n.688+2643C>G)
n.250C>G
n.724C>G
c.178C>G (p.Arg60Gly)
c.297-78C>G
c.134C>G (p.Pro45Arg)
c.217C>G (p.Arg73Gly)
c.1681+2643C>G (n.1681+2643C>G)
c.1678C>G (p.Arg560Gly)
c.718C>G (p.Arg240Gly)
c.685C>G (p.Arg229Gly)
c.166C>G (p.Arg56Gly)
c.1759C>G (p.Arg587Gly)
c.190+2643C>G (n.190+2643C>G)
 gnomAD v4
14g.21324647C>TCA7089094RPGRIP1c.1792C>T (p.Arg598Ter)
c.688+2643C>T (n.688+2643C>T)
n.250C>T
n.724C>T
c.178C>T (p.Arg60Ter)
c.297-78C>T
c.134C>T (p.Pro45Leu)
c.217C>T (p.Arg73Ter)
c.1681+2643C>T (n.1681+2643C>T)
c.1678C>T (p.Arg560Ter)
c.718C>T (p.Arg240Ter)
c.685C>T (p.Arg229Ter)
c.166C>T (p.Arg56Ter)
c.1759C>T (p.Arg587Ter)
c.190+2643C>T (n.190+2643C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21324648G>ACA7089095RPGRIP1c.1793G>A (p.Arg598Gln)
c.688+2644G>A (n.688+2644G>A)
n.251G>A
n.725G>A
c.179G>A (p.Arg60Gln)
c.297-77G>A
c.135G>A (p.Pro45=)
c.218G>A (p.Arg73Gln)
c.1681+2644G>A (n.1681+2644G>A)
c.1679G>A (p.Arg560Gln)
c.719G>A (p.Arg240Gln)
c.686G>A (p.Arg229Gln)
c.167G>A (p.Arg56Gln)
c.1760G>A (p.Arg587Gln)
c.190+2644G>A (n.190+2644G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
14g.21324648G>CCA388866862RPGRIP1c.1793G>C (p.Arg598Pro)
c.688+2644G>C (n.688+2644G>C)
n.251G>C
n.725G>C
c.179G>C (p.Arg60Pro)
c.297-77G>C
c.135G>C (p.Pro45=)
c.218G>C (p.Arg73Pro)
c.1681+2644G>C (n.1681+2644G>C)
c.1679G>C (p.Arg560Pro)
c.719G>C (p.Arg240Pro)
c.686G>C (p.Arg229Pro)
c.167G>C (p.Arg56Pro)
c.1760G>C (p.Arg587Pro)
c.190+2644G>C (n.190+2644G>C)
14g.21324648G=CA2122459966RPGRIP1c.1793G= (p.Arg598=)
c.688+2644G= (n.688+2644G=)
n.251G=
n.725G=
c.179G= (p.Arg60=)
c.297-77G=
c.135G= (p.Pro45=)
c.218G= (p.Arg73=)
c.1681+2644G= (n.1681+2644G=)
c.1679G= (p.Arg560=)
c.719G= (p.Arg240=)
c.686G= (p.Arg229=)
c.167G= (p.Arg56=)
c.1760G= (p.Arg587=)
c.190+2644G= (n.190+2644G=)
14g.21324648G>TCA388866863RPGRIP1c.1793G>T (p.Arg598Leu)
c.688+2644G>T (n.688+2644G>T)
n.251G>T
n.725G>T
c.179G>T (p.Arg60Leu)
c.297-77G>T
c.135G>T (p.Pro45=)
c.218G>T (p.Arg73Leu)
c.1681+2644G>T (n.1681+2644G>T)
c.1679G>T (p.Arg560Leu)
c.719G>T (p.Arg240Leu)
c.686G>T (p.Arg229Leu)
c.167G>T (p.Arg56Leu)
c.1760G>T (p.Arg587Leu)
c.190+2644G>T (n.190+2644G>T)
 dbSNP gnomAD v3 gnomAD v4
14g.21324649A=CA2122459970RPGRIP1c.1794A= (p.Arg598=)
c.688+2645A= (n.688+2645A=)
n.252A=
n.726A=
c.180A= (p.Arg60=)
c.297-76A=
c.136A= (p.Thr46=)
c.219A= (p.Arg73=)
c.1681+2645A= (n.1681+2645A=)
c.1680A= (p.Arg560=)
c.720A= (p.Arg240=)
c.687A= (p.Arg229=)
c.168A= (p.Arg56=)
c.1761A= (p.Arg587=)
c.190+2645A= (n.190+2645A=)
14g.21324649A>CCA484986020RPGRIP1c.1794A>C (p.Arg598=)
c.688+2645A>C (n.688+2645A>C)
n.252A>C
n.726A>C
c.180A>C (p.Arg60=)
c.297-76A>C
c.136A>C (p.Thr46Pro)
c.219A>C (p.Arg73=)
c.1681+2645A>C (n.1681+2645A>C)
c.1680A>C (p.Arg560=)
c.720A>C (p.Arg240=)
c.687A>C (p.Arg229=)
c.168A>C (p.Arg56=)
c.1761A>C (p.Arg587=)
c.190+2645A>C (n.190+2645A>C)
14g.21324649A>GCA7089096RPGRIP1c.1794A>G (p.Arg598=)
c.688+2645A>G (n.688+2645A>G)
n.252A>G
n.726A>G
c.180A>G (p.Arg60=)
c.297-76A>G
c.136A>G (p.Thr46Ala)
c.219A>G (p.Arg73=)
c.1681+2645A>G (n.1681+2645A>G)
c.1680A>G (p.Arg560=)
c.720A>G (p.Arg240=)
c.687A>G (p.Arg229=)
c.168A>G (p.Arg56=)
c.1761A>G (p.Arg587=)
c.190+2645A>G (n.190+2645A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21324649A>TCA484986021RPGRIP1c.1794A>T (p.Arg598=)
c.688+2645A>T (n.688+2645A>T)
n.252A>T
n.726A>T
c.180A>T (p.Arg60=)
c.297-76A>T
c.136A>T (p.Thr46Ser)
c.219A>T (p.Arg73=)
c.1681+2645A>T (n.1681+2645A>T)
c.1680A>T (p.Arg560=)
c.720A>T (p.Arg240=)
c.687A>T (p.Arg229=)
c.168A>T (p.Arg56=)
c.1761A>T (p.Arg587=)
c.190+2645A>T (n.190+2645A>T)
 gnomAD v4
14g.21324650C>ACA388866865RPGRIP1c.1795C>A (p.Pro599Thr)
c.688+2646C>A (n.688+2646C>A)
n.253C>A
n.727C>A
c.181C>A (p.Pro61Thr)
c.297-75C>A
c.137C>A (p.Thr46Asn)
c.220C>A (p.Pro74Thr)
c.1681+2646C>A (n.1681+2646C>A)
c.1681C>A (p.Pro561Thr)
c.721C>A (p.Pro241Thr)
c.688C>A (p.Pro230Thr)
c.169C>A (p.Pro57Thr)
c.1762C>A (p.Pro588Thr)
c.190+2646C>A (n.190+2646C>A)
14g.21324650C>GCA388866864RPGRIP1c.1795C>G (p.Pro599Ala)
c.688+2646C>G (n.688+2646C>G)
n.253C>G
n.727C>G
c.181C>G (p.Pro61Ala)
c.297-75C>G
c.137C>G (p.Thr46Ser)
c.220C>G (p.Pro74Ala)
c.1681+2646C>G (n.1681+2646C>G)
c.1681C>G (p.Pro561Ala)
c.721C>G (p.Pro241Ala)
c.688C>G (p.Pro230Ala)
c.169C>G (p.Pro57Ala)
c.1762C>G (p.Pro588Ala)
c.190+2646C>G (n.190+2646C>G)
14g.21324650C>TCA388866866RPGRIP1c.1795C>T (p.Pro599Ser)
c.688+2646C>T (n.688+2646C>T)
n.253C>T
n.727C>T
c.181C>T (p.Pro61Ser)
c.297-75C>T
c.137C>T (p.Thr46Ile)
c.220C>T (p.Pro74Ser)
c.1681+2646C>T (n.1681+2646C>T)
c.1681C>T (p.Pro561Ser)
c.721C>T (p.Pro241Ser)
c.688C>T (p.Pro230Ser)
c.169C>T (p.Pro57Ser)
c.1762C>T (p.Pro588Ser)
c.190+2646C>T (n.190+2646C>T)
14g.21324651C>ACA388866867RPGRIP1c.1796C>A (p.Pro599Gln)
c.688+2647C>A (n.688+2647C>A)
n.254C>A
n.728C>A
c.182C>A (p.Pro61Gln)
c.297-74C>A
c.138C>A (p.Thr46=)
c.221C>A (p.Pro74Gln)
c.1681+2647C>A (n.1681+2647C>A)
c.1682C>A (p.Pro561Gln)
c.722C>A (p.Pro241Gln)
c.689C>A (p.Pro230Gln)
c.170C>A (p.Pro57Gln)
c.1763C>A (p.Pro588Gln)
c.190+2647C>A (n.190+2647C>A)
14g.21324651C=CA2122459974RPGRIP1c.1796C= (p.Pro599=)
c.688+2647C= (n.688+2647C=)
n.254C=
n.728C=
c.182C= (p.Pro61=)
c.297-74C=
c.138C= (p.Thr46=)
c.221C= (p.Pro74=)
c.1681+2647C= (n.1681+2647C=)
c.1682C= (p.Pro561=)
c.722C= (p.Pro241=)
c.689C= (p.Pro230=)
c.170C= (p.Pro57=)
c.1763C= (p.Pro588=)
c.190+2647C= (n.190+2647C=)
14g.21324651C>GCA388866868RPGRIP1c.1796C>G (p.Pro599Arg)
c.688+2647C>G (n.688+2647C>G)
n.254C>G
n.728C>G
c.182C>G (p.Pro61Arg)
c.297-74C>G
c.138C>G (p.Thr46=)
c.221C>G (p.Pro74Arg)
c.1681+2647C>G (n.1681+2647C>G)
c.1682C>G (p.Pro561Arg)
c.722C>G (p.Pro241Arg)
c.689C>G (p.Pro230Arg)
c.170C>G (p.Pro57Arg)
c.1763C>G (p.Pro588Arg)
c.190+2647C>G (n.190+2647C>G)
14g.21324651C>TCA7089097RPGRIP1c.1796C>T (p.Pro599Leu)
c.688+2647C>T (n.688+2647C>T)
n.254C>T
n.728C>T
c.182C>T (p.Pro61Leu)
c.297-74C>T
c.138C>T (p.Thr46=)
c.221C>T (p.Pro74Leu)
c.1681+2647C>T (n.1681+2647C>T)
c.1682C>T (p.Pro561Leu)
c.722C>T (p.Pro241Leu)
c.689C>T (p.Pro230Leu)
c.170C>T (p.Pro57Leu)
c.1763C>T (p.Pro588Leu)
c.190+2647C>T (n.190+2647C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21324655_21324660delCA2580087811RPGRIP1c.1800_1805del (p.Ser601_Leu602del)
c.688+2651_688+2656del (n.688+2651_688+2656del)
n.258_263del
n.732_737del
c.186_191del (p.Ser63_Leu64del)
c.297-70_297-65del
c.142_147del (p.Val48_Val49del)
c.225_230del (p.Ser76_Leu77del)
c.1681+2651_1681+2656del (n.1681+2651_1681+2656del)
c.1686_1691del (p.Ser563_Leu564del)
c.726_731del (p.Ser243_Leu244del)
c.693_698del (p.Ser232_Leu233del)
c.174_179del (p.Ser59_Leu60del)
c.1767_1772del (p.Ser590_Leu591del)
c.190+2651_190+2656del (n.190+2651_190+2656del)
 ClinVar gnomAD v4
14g.21324652G>ACA227907RPGRIP1c.1797G>A (p.Pro599=)
c.688+2648G>A (n.688+2648G>A)
n.255G>A
n.729G>A
c.183G>A (p.Pro61=)
c.297-73G>A
c.139G>A (p.Val47Ile)
c.222G>A (p.Pro74=)
c.1681+2648G>A (n.1681+2648G>A)
c.1683G>A (p.Pro561=)
c.723G>A (p.Pro241=)
c.690G>A (p.Pro230=)
c.171G>A (p.Pro57=)
c.1764G>A (p.Pro588=)
c.190+2648G>A (n.190+2648G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21324652G>CCA484986022RPGRIP1c.1797G>C (p.Pro599=)
c.688+2648G>C (n.688+2648G>C)
n.255G>C
n.729G>C
c.183G>C (p.Pro61=)
c.297-73G>C
c.139G>C (p.Val47Leu)
c.222G>C (p.Pro74=)
c.1681+2648G>C (n.1681+2648G>C)
c.1683G>C (p.Pro561=)
c.723G>C (p.Pro241=)
c.690G>C (p.Pro230=)
c.171G>C (p.Pro57=)
c.1764G>C (p.Pro588=)
c.190+2648G>C (n.190+2648G>C)
14g.21324652G=CA1630856006RPGRIP1c.1797G= (p.Pro599=)
c.688+2648G= (n.688+2648G=)
n.255G=
n.729G=
c.183G= (p.Pro61=)
c.297-73G=
c.139G= (p.Val47=)
c.222G= (p.Pro74=)
c.1681+2648G= (n.1681+2648G=)
c.1683G= (p.Pro561=)
c.723G= (p.Pro241=)
c.690G= (p.Pro230=)
c.171G= (p.Pro57=)
c.1764G= (p.Pro588=)
c.190+2648G= (n.190+2648G=)
14g.21324652G>TCA484986023RPGRIP1c.1797G>T (p.Pro599=)
c.688+2648G>T (n.688+2648G>T)
n.255G>T
n.729G>T
c.183G>T (p.Pro61=)
c.297-73G>T
c.139G>T (p.Val47Phe)
c.222G>T (p.Pro74=)
c.1681+2648G>T (n.1681+2648G>T)
c.1683G>T (p.Pro561=)
c.723G>T (p.Pro241=)
c.690G>T (p.Pro230=)
c.171G>T (p.Pro57=)
c.1764G>T (p.Pro588=)
c.190+2648G>T (n.190+2648G>T)
 dbSNP
14g.21324653T>ACA388866869RPGRIP1c.1798T>A (p.Leu600Met)
c.688+2649T>A (n.688+2649T>A)
n.256T>A
n.730T>A
c.184T>A (p.Leu62Met)
c.297-72T>A
c.140T>A (p.Val47Asp)
c.223T>A (p.Leu75Met)
c.1681+2649T>A (n.1681+2649T>A)
c.1684T>A (p.Leu562Met)
c.724T>A (p.Leu242Met)
c.691T>A (p.Leu231Met)
c.172T>A (p.Leu58Met)
c.1765T>A (p.Leu589Met)
c.190+2649T>A (n.190+2649T>A)
14g.21324653T>CCA484986024RPGRIP1c.1798T>C (p.Leu600=)
c.688+2649T>C (n.688+2649T>C)
n.256T>C
n.730T>C
c.184T>C (p.Leu62=)
c.297-72T>C
c.140T>C (p.Val47Ala)
c.223T>C (p.Leu75=)
c.1681+2649T>C (n.1681+2649T>C)
c.1684T>C (p.Leu562=)
c.724T>C (p.Leu242=)
c.691T>C (p.Leu231=)
c.172T>C (p.Leu58=)
c.1765T>C (p.Leu589=)
c.190+2649T>C (n.190+2649T>C)
14g.21324653T>GCA388866870RPGRIP1c.1798T>G (p.Leu600Val)
c.688+2649T>G (n.688+2649T>G)
n.256T>G
n.730T>G
c.184T>G (p.Leu62Val)
c.297-72T>G
c.140T>G (p.Val47Gly)
c.223T>G (p.Leu75Val)
c.1681+2649T>G (n.1681+2649T>G)
c.1684T>G (p.Leu562Val)
c.724T>G (p.Leu242Val)
c.691T>G (p.Leu231Val)
c.172T>G (p.Leu58Val)
c.1765T>G (p.Leu589Val)
c.190+2649T>G (n.190+2649T>G)
14g.21324654T>ACA388866871RPGRIP1c.1799T>A (p.Leu600Ter)
c.688+2650T>A (n.688+2650T>A)
n.257T>A
n.731T>A
c.185T>A (p.Leu62Ter)
c.297-71T>A
c.141T>A (p.Val47=)
c.224T>A (p.Leu75Ter)
c.1681+2650T>A (n.1681+2650T>A)
c.1685T>A (p.Leu562Ter)
c.725T>A (p.Leu242Ter)
c.692T>A (p.Leu231Ter)
c.173T>A (p.Leu58Ter)
c.1766T>A (p.Leu589Ter)
c.190+2650T>A (n.190+2650T>A)
14g.21324654T>CCA388866872RPGRIP1c.1799T>C (p.Leu600Ser)
c.688+2650T>C (n.688+2650T>C)
n.257T>C
n.731T>C
c.185T>C (p.Leu62Ser)
c.297-71T>C
c.141T>C (p.Val47=)
c.224T>C (p.Leu75Ser)
c.1681+2650T>C (n.1681+2650T>C)
c.1685T>C (p.Leu562Ser)
c.725T>C (p.Leu242Ser)
c.692T>C (p.Leu231Ser)
c.173T>C (p.Leu58Ser)
c.1766T>C (p.Leu589Ser)
c.190+2650T>C (n.190+2650T>C)
 dbSNP
14g.21324654T>GCA388866873RPGRIP1c.1799T>G (p.Leu600Trp)
c.688+2650T>G (n.688+2650T>G)
n.257T>G
n.731T>G
c.185T>G (p.Leu62Trp)
c.297-71T>G
c.141T>G (p.Val47=)
c.224T>G (p.Leu75Trp)
c.1681+2650T>G (n.1681+2650T>G)
c.1685T>G (p.Leu562Trp)
c.725T>G (p.Leu242Trp)
c.692T>G (p.Leu231Trp)
c.173T>G (p.Leu58Trp)
c.1766T>G (p.Leu589Trp)
c.190+2650T>G (n.190+2650T>G)
14g.21324654T=CA2122459991RPGRIP1c.1799T= (p.Leu600=)
c.688+2650T= (n.688+2650T=)
n.257T=
n.731T=
c.185T= (p.Leu62=)
c.297-71T=
c.141T= (p.Val47=)
c.224T= (p.Leu75=)
c.1681+2650T= (n.1681+2650T=)
c.1685T= (p.Leu562=)
c.725T= (p.Leu242=)
c.692T= (p.Leu231=)
c.173T= (p.Leu58=)
c.1766T= (p.Leu589=)
c.190+2650T= (n.190+2650T=)
14g.21324654_21324657delinsTGTCCA2122459988RPGRIP1c.1799_1802delinsTGTC (p.Leu600=)
c.688+2650_688+2653delinsTGTC (n.688+2650_688+2653delinsTGTC)
n.257_260delinsTGTC
n.731_734delinsTGTC
c.185_188delinsTGTC (p.Leu62=)
c.297-71_297-68delinsTGTC
c.141_144delinsTGTC (p.Val47=)
c.224_227delinsTGTC (p.Leu75=)
c.1681+2650_1681+2653delinsTGTC (n.1681+2650_1681+2653delinsTGTC)
c.1685_1688delinsTGTC (p.Leu562=)
c.725_728delinsTGTC (p.Leu242=)
c.692_695delinsTGTC (p.Leu231=)
c.173_176delinsTGTC (p.Leu58=)
c.1766_1769delinsTGTC (p.Leu589=)
c.190+2650_190+2653delinsTGTC (n.190+2650_190+2653delinsTGTC)
14g.21324655G>ACA484986025RPGRIP1c.1800G>A (p.Leu600=)
c.688+2651G>A (n.688+2651G>A)
n.258G>A
n.732G>A
c.186G>A (p.Leu62=)
c.297-70G>A
c.142G>A (p.Val48Ile)
c.225G>A (p.Leu75=)
c.1681+2651G>A (n.1681+2651G>A)
c.1686G>A (p.Leu562=)
c.726G>A (p.Leu242=)
c.693G>A (p.Leu231=)
c.174G>A (p.Leu58=)
c.1767G>A (p.Leu589=)
c.190+2651G>A (n.190+2651G>A)
 ClinVar dbSNP
14g.21324655G>CCA388866874RPGRIP1c.1800G>C (p.Leu600Phe)
c.688+2651G>C (n.688+2651G>C)
n.258G>C
n.732G>C
c.186G>C (p.Leu62Phe)
c.297-70G>C
c.142G>C (p.Val48Leu)
c.225G>C (p.Leu75Phe)
c.1681+2651G>C (n.1681+2651G>C)
c.1686G>C (p.Leu562Phe)
c.726G>C (p.Leu242Phe)
c.693G>C (p.Leu231Phe)
c.174G>C (p.Leu58Phe)
c.1767G>C (p.Leu589Phe)
c.190+2651G>C (n.190+2651G>C)
14g.21324655G=CA2122459997RPGRIP1c.1800G= (p.Leu600=)
c.688+2651G= (n.688+2651G=)
n.258G=
n.732G=
c.186G= (p.Leu62=)
c.297-70G=
c.142G= (p.Val48=)
c.225G= (p.Leu75=)
c.1681+2651G= (n.1681+2651G=)
c.1686G= (p.Leu562=)
c.726G= (p.Leu242=)
c.693G= (p.Leu231=)
c.174G= (p.Leu58=)
c.1767G= (p.Leu589=)
c.190+2651G= (n.190+2651G=)
14g.21324655G>TCA388866875RPGRIP1c.1800G>T (p.Leu600Phe)
c.688+2651G>T (n.688+2651G>T)
n.258G>T
n.732G>T
c.186G>T (p.Leu62Phe)
c.297-70G>T
c.142G>T (p.Val48Phe)
c.225G>T (p.Leu75Phe)
c.1681+2651G>T (n.1681+2651G>T)
c.1686G>T (p.Leu562Phe)
c.726G>T (p.Leu242Phe)
c.693G>T (p.Leu231Phe)
c.174G>T (p.Leu58Phe)
c.1767G>T (p.Leu589Phe)
c.190+2651G>T (n.190+2651G>T)
14g.21324657_21324659delCA7089098RPGRIP1c.1802_1804del (p.Ser601del)
c.688+2653_688+2655del (n.688+2653_688+2655del)
n.260_262del
n.734_736del
c.188_190del (p.Ser63del)
c.297-68_297-66del
c.144_146del (p.Val49del)
c.227_229del (p.Ser76del)
c.1681+2653_1681+2655del (n.1681+2653_1681+2655del)
c.1688_1690del (p.Ser563del)
c.728_730del (p.Ser243del)
c.695_697del (p.Ser232del)
c.176_178del (p.Ser59del)
c.1769_1771del (p.Ser590del)
c.190+2653_190+2655del (n.190+2653_190+2655del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21324656T>ACA388866878RPGRIP1c.1801T>A (p.Ser601Thr)
c.688+2652T>A (n.688+2652T>A)
n.259T>A
n.733T>A
c.187T>A (p.Ser63Thr)
c.297-69T>A
c.143T>A (p.Val48Asp)
c.226T>A (p.Ser76Thr)
c.1681+2652T>A (n.1681+2652T>A)
c.1687T>A (p.Ser563Thr)
c.727T>A (p.Ser243Thr)
c.694T>A (p.Ser232Thr)
c.175T>A (p.Ser59Thr)
c.1768T>A (p.Ser590Thr)
c.190+2652T>A (n.190+2652T>A)
14g.21324656T>CCA388866876RPGRIP1c.1801T>C (p.Ser601Pro)
c.688+2652T>C (n.688+2652T>C)
n.259T>C
n.733T>C
c.187T>C (p.Ser63Pro)
c.297-69T>C
c.143T>C (p.Val48Ala)
c.226T>C (p.Ser76Pro)
c.1681+2652T>C (n.1681+2652T>C)
c.1687T>C (p.Ser563Pro)
c.727T>C (p.Ser243Pro)
c.694T>C (p.Ser232Pro)
c.175T>C (p.Ser59Pro)
c.1768T>C (p.Ser590Pro)
c.190+2652T>C (n.190+2652T>C)
14g.21324656T>GCA388866877RPGRIP1c.1801T>G (p.Ser601Ala)
c.688+2652T>G (n.688+2652T>G)
n.259T>G
n.733T>G
c.187T>G (p.Ser63Ala)
c.297-69T>G
c.143T>G (p.Val48Gly)
c.226T>G (p.Ser76Ala)
c.1681+2652T>G (n.1681+2652T>G)
c.1687T>G (p.Ser563Ala)
c.727T>G (p.Ser243Ala)
c.694T>G (p.Ser232Ala)
c.175T>G (p.Ser59Ala)
c.1768T>G (p.Ser590Ala)
c.190+2652T>G (n.190+2652T>G)
14g.21324657C>ACA388866879RPGRIP1c.1802C>A (p.Ser601Ter)
c.688+2653C>A (n.688+2653C>A)
n.260C>A
n.734C>A
c.188C>A (p.Ser63Ter)
c.297-68C>A
c.144C>A (p.Val48=)
c.227C>A (p.Ser76Ter)
c.1681+2653C>A (n.1681+2653C>A)
c.1688C>A (p.Ser563Ter)
c.728C>A (p.Ser243Ter)
c.695C>A (p.Ser232Ter)
c.176C>A (p.Ser59Ter)
c.1769C>A (p.Ser590Ter)
c.190+2653C>A (n.190+2653C>A)
14g.21324657C=CA2122460004RPGRIP1c.1802C= (p.Ser601=)
c.688+2653C= (n.688+2653C=)
n.260C=
n.734C=
c.188C= (p.Ser63=)
c.297-68C=
c.144C= (p.Val48=)
c.227C= (p.Ser76=)
c.1681+2653C= (n.1681+2653C=)
c.1688C= (p.Ser563=)
c.728C= (p.Ser243=)
c.695C= (p.Ser232=)
c.176C= (p.Ser59=)
c.1769C= (p.Ser590=)
c.190+2653C= (n.190+2653C=)
14g.21324657C>GCA7089099RPGRIP1c.1802C>G (p.Ser601Trp)
c.688+2653C>G (n.688+2653C>G)
n.260C>G
n.734C>G
c.188C>G (p.Ser63Trp)
c.297-68C>G
c.144C>G (p.Val48=)
c.227C>G (p.Ser76Trp)
c.1681+2653C>G (n.1681+2653C>G)
c.1688C>G (p.Ser563Trp)
c.728C>G (p.Ser243Trp)
c.695C>G (p.Ser232Trp)
c.176C>G (p.Ser59Trp)
c.1769C>G (p.Ser590Trp)
c.190+2653C>G (n.190+2653C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21324657C>TCA7089100RPGRIP1c.1802C>T (p.Ser601Leu)
c.688+2653C>T (n.688+2653C>T)
n.260C>T
n.734C>T
c.188C>T (p.Ser63Leu)
c.297-68C>T
c.144C>T (p.Val48=)
c.227C>T (p.Ser76Leu)
c.1681+2653C>T (n.1681+2653C>T)
c.1688C>T (p.Ser563Leu)
c.728C>T (p.Ser243Leu)
c.695C>T (p.Ser232Leu)
c.176C>T (p.Ser59Leu)
c.1769C>T (p.Ser590Leu)
c.190+2653C>T (n.190+2653C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21324658G>ACA7089101RPGRIP1c.1803G>A (p.Ser601=)
c.688+2654G>A (n.688+2654G>A)
n.261G>A
n.735G>A
c.189G>A (p.Ser63=)
c.297-67G>A
c.145G>A (p.Val49Ile)
c.228G>A (p.Ser76=)
c.1681+2654G>A (n.1681+2654G>A)
c.1689G>A (p.Ser563=)
c.729G>A (p.Ser243=)
c.696G>A (p.Ser232=)
c.177G>A (p.Ser59=)
c.1770G>A (p.Ser590=)
c.190+2654G>A (n.190+2654G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21324658G>CCA484986026RPGRIP1c.1803G>C (p.Ser601=)
c.688+2654G>C (n.688+2654G>C)
n.261G>C
n.735G>C
c.189G>C (p.Ser63=)
c.297-67G>C
c.145G>C (p.Val49Leu)
c.228G>C (p.Ser76=)
c.1681+2654G>C (n.1681+2654G>C)
c.1689G>C (p.Ser563=)
c.729G>C (p.Ser243=)
c.696G>C (p.Ser232=)
c.177G>C (p.Ser59=)
c.1770G>C (p.Ser590=)
c.190+2654G>C (n.190+2654G>C)
14g.21324658G=CA2122460015RPGRIP1c.1803G= (p.Ser601=)
c.688+2654G= (n.688+2654G=)
n.261G=
n.735G=
c.189G= (p.Ser63=)
c.297-67G=
c.145G= (p.Val49=)
c.228G= (p.Ser76=)
c.1681+2654G= (n.1681+2654G=)
c.1689G= (p.Ser563=)
c.729G= (p.Ser243=)
c.696G= (p.Ser232=)
c.177G= (p.Ser59=)
c.1770G= (p.Ser590=)
c.190+2654G= (n.190+2654G=)
14g.21324658G>TCA484986027RPGRIP1c.1803G>T (p.Ser601=)
c.688+2654G>T (n.688+2654G>T)
n.261G>T
n.735G>T
c.189G>T (p.Ser63=)
c.297-67G>T
c.145G>T (p.Val49Phe)
c.228G>T (p.Ser76=)
c.1681+2654G>T (n.1681+2654G>T)
c.1689G>T (p.Ser563=)
c.729G>T (p.Ser243=)
c.696G>T (p.Ser232=)
c.177G>T (p.Ser59=)
c.1770G>T (p.Ser590=)
c.190+2654G>T (n.190+2654G>T)
14g.21324659T>ACA388866880RPGRIP1c.1804T>A (p.Leu602Ile)
c.688+2655T>A (n.688+2655T>A)
n.262T>A
n.736T>A
c.190T>A (p.Leu64Ile)
c.297-66T>A
c.146T>A (p.Val49Asp)
c.229T>A (p.Leu77Ile)
c.1681+2655T>A (n.1681+2655T>A)
c.1690T>A (p.Leu564Ile)
c.730T>A (p.Leu244Ile)
c.697T>A (p.Leu233Ile)
c.178T>A (p.Leu60Ile)
c.1771T>A (p.Leu591Ile)
c.190+2655T>A (n.190+2655T>A)
14g.21324659T>CCA484986028RPGRIP1c.1804T>C (p.Leu602=)
c.688+2655T>C (n.688+2655T>C)
n.262T>C
n.736T>C
c.190T>C (p.Leu64=)
c.297-66T>C
c.146T>C (p.Val49Ala)
c.229T>C (p.Leu77=)
c.1681+2655T>C (n.1681+2655T>C)
c.1690T>C (p.Leu564=)
c.730T>C (p.Leu244=)
c.697T>C (p.Leu233=)
c.178T>C (p.Leu60=)
c.1771T>C (p.Leu591=)
c.190+2655T>C (n.190+2655T>C)
14g.21324659T>GCA388866881RPGRIP1c.1804T>G (p.Leu602Val)
c.688+2655T>G (n.688+2655T>G)
n.262T>G
n.736T>G
c.190T>G (p.Leu64Val)
c.297-66T>G
c.146T>G (p.Val49Gly)
c.229T>G (p.Leu77Val)
c.1681+2655T>G (n.1681+2655T>G)
c.1690T>G (p.Leu564Val)
c.730T>G (p.Leu244Val)
c.697T>G (p.Leu233Val)
c.178T>G (p.Leu60Val)
c.1771T>G (p.Leu591Val)
c.190+2655T>G (n.190+2655T>G)
14g.21324660T>ACA388866882RPGRIP1c.1805T>A (p.Leu602Ter)
c.688+2656T>A (n.688+2656T>A)
n.263T>A
n.737T>A
c.191T>A (p.Leu64Ter)
c.297-65T>A
c.147T>A (p.Val49=)
c.230T>A (p.Leu77Ter)
c.1681+2656T>A (n.1681+2656T>A)
c.1691T>A (p.Leu564Ter)
c.731T>A (p.Leu244Ter)
c.698T>A (p.Leu233Ter)
c.179T>A (p.Leu60Ter)
c.1772T>A (p.Leu591Ter)
c.190+2656T>A (n.190+2656T>A)
14g.21324660T>CCA388866883RPGRIP1c.1805T>C (p.Leu602Ser)
c.688+2656T>C (n.688+2656T>C)
n.263T>C
n.737T>C
c.191T>C (p.Leu64Ser)
c.297-65T>C
c.147T>C (p.Val49=)
c.230T>C (p.Leu77Ser)
c.1681+2656T>C (n.1681+2656T>C)
c.1691T>C (p.Leu564Ser)
c.731T>C (p.Leu244Ser)
c.698T>C (p.Leu233Ser)
c.179T>C (p.Leu60Ser)
c.1772T>C (p.Leu591Ser)
c.190+2656T>C (n.190+2656T>C)
14g.21324660T>GCA388866884RPGRIP1c.1805T>G (p.Leu602Ter)
c.688+2656T>G (n.688+2656T>G)
n.263T>G
n.737T>G
c.191T>G (p.Leu64Ter)
c.297-65T>G
c.147T>G (p.Val49=)
c.230T>G (p.Leu77Ter)
c.1681+2656T>G (n.1681+2656T>G)
c.1691T>G (p.Leu564Ter)
c.731T>G (p.Leu244Ter)
c.698T>G (p.Leu233Ter)
c.179T>G (p.Leu60Ter)
c.1772T>G (p.Leu591Ter)
c.190+2656T>G (n.190+2656T>G)
14g.21324661_21324662delCA2624071779RPGRIP1c.1806_1807del (p.Cys603PhefsTer10)
c.688+2657_688+2658del (n.688+2657_688+2658del)
n.264_265del
n.738_739del
c.192_193del (p.Cys65PhefsTer10)
c.297-64_297-63del
c.148_149del (p.Met50ValfsTer?)
c.231_232del (p.Cys78PhefsTer10)
c.1681+2657_1681+2658del (n.1681+2657_1681+2658del)
c.1692_1693del (p.Cys565PhefsTer10)
c.732_733del (p.Cys245PhefsTer10)
c.699_700del (p.Cys234PhefsTer10)
c.180_181del (p.Cys61PhefsTer10)
c.1773_1774del (p.Cys592PhefsTer10)
c.190+2657_190+2658del (n.190+2657_190+2658del)
 gnomAD v4
14g.21324661A>CCA388866885RPGRIP1c.1806A>C (p.Leu602Phe)
c.688+2657A>C (n.688+2657A>C)
n.264A>C
n.738A>C
c.192A>C (p.Leu64Phe)
c.297-64A>C
c.148A>C (p.Met50Leu)
c.231A>C (p.Leu77Phe)
c.1681+2657A>C (n.1681+2657A>C)
c.1692A>C (p.Leu564Phe)
c.732A>C (p.Leu244Phe)
c.699A>C (p.Leu233Phe)
c.180A>C (p.Leu60Phe)
c.1773A>C (p.Leu591Phe)
c.190+2657A>C (n.190+2657A>C)
14g.21324661A>GCA484986029RPGRIP1c.1806A>G (p.Leu602=)
c.688+2657A>G (n.688+2657A>G)
n.264A>G
n.738A>G
c.192A>G (p.Leu64=)
c.297-64A>G
c.148A>G (p.Met50Val)
c.231A>G (p.Leu77=)
c.1681+2657A>G (n.1681+2657A>G)
c.1692A>G (p.Leu564=)
c.732A>G (p.Leu244=)
c.699A>G (p.Leu233=)
c.180A>G (p.Leu60=)
c.1773A>G (p.Leu591=)
c.190+2657A>G (n.190+2657A>G)
14g.21324661A>TCA388866886RPGRIP1c.1806A>T (p.Leu602Phe)
c.688+2657A>T (n.688+2657A>T)
n.264A>T
n.738A>T
c.192A>T (p.Leu64Phe)
c.297-64A>T
c.148A>T (p.Met50Leu)
c.231A>T (p.Leu77Phe)
c.1681+2657A>T (n.1681+2657A>T)
c.1692A>T (p.Leu564Phe)
c.732A>T (p.Leu244Phe)
c.699A>T (p.Leu233Phe)
c.180A>T (p.Leu60Phe)
c.1773A>T (p.Leu591Phe)
c.190+2657A>T (n.190+2657A>T)
14g.21324662T>ACA388866888RPGRIP1c.1807T>A (p.Cys603Ser)
c.688+2658T>A (n.688+2658T>A)
n.265T>A
n.739T>A
c.193T>A (p.Cys65Ser)
c.297-63T>A
c.149T>A (p.Met50Lys)
c.232T>A (p.Cys78Ser)
c.1681+2658T>A (n.1681+2658T>A)
c.1693T>A (p.Cys565Ser)
c.733T>A (p.Cys245Ser)
c.700T>A (p.Cys234Ser)
c.181T>A (p.Cys61Ser)
c.1774T>A (p.Cys592Ser)
c.190+2658T>A (n.190+2658T>A)
14g.21324662T>CCA7089102RPGRIP1c.1807T>C (p.Cys603Arg)
c.688+2658T>C (n.688+2658T>C)
n.265T>C
n.739T>C
c.193T>C (p.Cys65Arg)
c.297-63T>C
c.149T>C (p.Met50Thr)
c.232T>C (p.Cys78Arg)
c.1681+2658T>C (n.1681+2658T>C)
c.1693T>C (p.Cys565Arg)
c.733T>C (p.Cys245Arg)
c.700T>C (p.Cys234Arg)
c.181T>C (p.Cys61Arg)
c.1774T>C (p.Cys592Arg)
c.190+2658T>C (n.190+2658T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21324662T>GCA388866887RPGRIP1c.1807T>G (p.Cys603Gly)
c.688+2658T>G (n.688+2658T>G)
n.265T>G
n.739T>G
c.193T>G (p.Cys65Gly)
c.297-63T>G
c.149T>G (p.Met50Arg)
c.232T>G (p.Cys78Gly)
c.1681+2658T>G (n.1681+2658T>G)
c.1693T>G (p.Cys565Gly)
c.733T>G (p.Cys245Gly)
c.700T>G (p.Cys234Gly)
c.181T>G (p.Cys61Gly)
c.1774T>G (p.Cys592Gly)
c.190+2658T>G (n.190+2658T>G)
14g.21324662T=CA2122460020RPGRIP1c.1807T= (p.Cys603=)
c.688+2658T= (n.688+2658T=)
n.265T=
n.739T=
c.193T= (p.Cys65=)
c.297-63T=
c.149T= (p.Met50=)
c.232T= (p.Cys78=)
c.1681+2658T= (n.1681+2658T=)
c.1693T= (p.Cys565=)
c.733T= (p.Cys245=)
c.700T= (p.Cys234=)
c.181T= (p.Cys61=)
c.1774T= (p.Cys592=)
c.190+2658T= (n.190+2658T=)
14g.21324663G>ACA388866889RPGRIP1c.1808G>A (p.Cys603Tyr)
c.688+2659G>A (n.688+2659G>A)
n.266G>A
n.740G>A
c.194G>A (p.Cys65Tyr)
c.297-62G>A
c.150G>A (p.Met50Ile)
c.233G>A (p.Cys78Tyr)
c.1681+2659G>A (n.1681+2659G>A)
c.1694G>A (p.Cys565Tyr)
c.734G>A (p.Cys245Tyr)
c.701G>A (p.Cys234Tyr)
c.182G>A (p.Cys61Tyr)
c.1775G>A (p.Cys592Tyr)
c.190+2659G>A (n.190+2659G>A)
 dbSNP gnomAD v3 gnomAD v4
14g.21324663G>CCA388866890RPGRIP1c.1808G>C (p.Cys603Ser)
c.688+2659G>C (n.688+2659G>C)
n.266G>C
n.740G>C
c.194G>C (p.Cys65Ser)
c.297-62G>C
c.150G>C (p.Met50Ile)
c.233G>C (p.Cys78Ser)
c.1681+2659G>C (n.1681+2659G>C)
c.1694G>C (p.Cys565Ser)
c.734G>C (p.Cys245Ser)
c.701G>C (p.Cys234Ser)
c.182G>C (p.Cys61Ser)
c.1775G>C (p.Cys592Ser)
c.190+2659G>C (n.190+2659G>C)
 dbSNP gnomAD v4
14g.21324663G=CA2122460024RPGRIP1c.1808G= (p.Cys603=)
c.688+2659G= (n.688+2659G=)
n.266G=
n.740G=
c.194G= (p.Cys65=)
c.297-62G=
c.150G= (p.Met50=)
c.233G= (p.Cys78=)
c.1681+2659G= (n.1681+2659G=)
c.1694G= (p.Cys565=)
c.734G= (p.Cys245=)
c.701G= (p.Cys234=)
c.182G= (p.Cys61=)
c.1775G= (p.Cys592=)
c.190+2659G= (n.190+2659G=)
14g.21324663G>TCA388866891RPGRIP1c.1808G>T (p.Cys603Phe)
c.688+2659G>T (n.688+2659G>T)
n.266G>T
n.740G>T
c.194G>T (p.Cys65Phe)
c.297-62G>T
c.150G>T (p.Met50Ile)
c.233G>T (p.Cys78Phe)
c.1681+2659G>T (n.1681+2659G>T)
c.1694G>T (p.Cys565Phe)
c.734G>T (p.Cys245Phe)
c.701G>T (p.Cys234Phe)
c.182G>T (p.Cys61Phe)
c.1775G>T (p.Cys592Phe)
c.190+2659G>T (n.190+2659G>T)
14g.21324664T>ACA388866892RPGRIP1c.1809T>A (p.Cys603Ter)
c.688+2660T>A (n.688+2660T>A)
n.267T>A
n.741T>A
c.195T>A (p.Cys65Ter)
c.297-61T>A
c.151T>A (p.Phe51Ile)
c.234T>A (p.Cys78Ter)
c.1681+2660T>A (n.1681+2660T>A)
c.1695T>A (p.Cys565Ter)
c.735T>A (p.Cys245Ter)
c.702T>A (p.Cys234Ter)
c.183T>A (p.Cys61Ter)
c.1776T>A (p.Cys592Ter)
c.190+2660T>A (n.190+2660T>A)
14g.21324664T>CCA484986030RPGRIP1c.1809T>C (p.Cys603=)
c.688+2660T>C (n.688+2660T>C)
n.267T>C
n.741T>C
c.195T>C (p.Cys65=)
c.297-61T>C
c.151T>C (p.Phe51Leu)
c.234T>C (p.Cys78=)
c.1681+2660T>C (n.1681+2660T>C)
c.1695T>C (p.Cys565=)
c.735T>C (p.Cys245=)
c.702T>C (p.Cys234=)
c.183T>C (p.Cys61=)
c.1776T>C (p.Cys592=)
c.190+2660T>C (n.190+2660T>C)
14g.21324664T>GCA388866893RPGRIP1c.1809T>G (p.Cys603Trp)
c.688+2660T>G (n.688+2660T>G)
n.267T>G
n.741T>G
c.195T>G (p.Cys65Trp)
c.297-61T>G
c.151T>G (p.Phe51Val)
c.234T>G (p.Cys78Trp)
c.1681+2660T>G (n.1681+2660T>G)
c.1695T>G (p.Cys565Trp)
c.735T>G (p.Cys245Trp)
c.702T>G (p.Cys234Trp)
c.183T>G (p.Cys61Trp)
c.1776T>G (p.Cys592Trp)
c.190+2660T>G (n.190+2660T>G)
14g.21324665T>ACA388866894RPGRIP1c.1810T>A (p.Leu604Met)
c.688+2661T>A (n.688+2661T>A)
n.268T>A
n.742T>A
c.196T>A (p.Leu66Met)
c.297-60T>A
c.152T>A (p.Phe51Tyr)
c.235T>A (p.Leu79Met)
c.1681+2661T>A (n.1681+2661T>A)
c.1696T>A (p.Leu566Met)
c.736T>A (p.Leu246Met)
c.703T>A (p.Leu235Met)
c.184T>A (p.Leu62Met)
c.1777T>A (p.Leu593Met)
c.190+2661T>A (n.190+2661T>A)
 gnomAD v4
14g.21324665T>CCA484986031RPGRIP1c.1810T>C (p.Leu604=)
c.688+2661T>C (n.688+2661T>C)
n.268T>C
n.742T>C
c.196T>C (p.Leu66=)
c.297-60T>C
c.152T>C (p.Phe51Ser)
c.235T>C (p.Leu79=)
c.1681+2661T>C (n.1681+2661T>C)
c.1696T>C (p.Leu566=)
c.736T>C (p.Leu246=)
c.703T>C (p.Leu235=)
c.184T>C (p.Leu62=)
c.1777T>C (p.Leu593=)
c.190+2661T>C (n.190+2661T>C)
14g.21324665T>GCA388866895RPGRIP1c.1810T>G (p.Leu604Val)
c.688+2661T>G (n.688+2661T>G)
n.268T>G
n.742T>G
c.196T>G (p.Leu66Val)
c.297-60T>G
c.152T>G (p.Phe51Cys)
c.235T>G (p.Leu79Val)
c.1681+2661T>G (n.1681+2661T>G)
c.1696T>G (p.Leu566Val)
c.736T>G (p.Leu246Val)
c.703T>G (p.Leu235Val)
c.184T>G (p.Leu62Val)
c.1777T>G (p.Leu593Val)
c.190+2661T>G (n.190+2661T>G)
14g.21324666T>ACA388866896RPGRIP1c.1811T>A (p.Leu604Ter)
c.688+2662T>A (n.688+2662T>A)
n.269T>A
n.743T>A
c.197T>A (p.Leu66Ter)
c.297-59T>A
c.153T>A (p.Phe51Leu)
c.236T>A (p.Leu79Ter)
c.1681+2662T>A (n.1681+2662T>A)
c.1697T>A (p.Leu566Ter)
c.737T>A (p.Leu246Ter)
c.704T>A (p.Leu235Ter)
c.185T>A (p.Leu62Ter)
c.1778T>A (p.Leu593Ter)
c.190+2662T>A (n.190+2662T>A)
14g.21324666T>CCA388866897RPGRIP1c.1811T>C (p.Leu604Ser)
c.688+2662T>C (n.688+2662T>C)
n.269T>C
n.743T>C
c.197T>C (p.Leu66Ser)
c.297-59T>C
c.153T>C (p.Phe51=)
c.236T>C (p.Leu79Ser)
c.1681+2662T>C (n.1681+2662T>C)
c.1697T>C (p.Leu566Ser)
c.737T>C (p.Leu246Ser)
c.704T>C (p.Leu235Ser)
c.185T>C (p.Leu62Ser)
c.1778T>C (p.Leu593Ser)
c.190+2662T>C (n.190+2662T>C)
 gnomAD v4
14g.21324666T>GCA388866898RPGRIP1c.1811T>G (p.Leu604Trp)
c.688+2662T>G (n.688+2662T>G)
n.269T>G
n.743T>G
c.197T>G (p.Leu66Trp)
c.297-59T>G
c.153T>G (p.Phe51Leu)
c.236T>G (p.Leu79Trp)
c.1681+2662T>G (n.1681+2662T>G)
c.1697T>G (p.Leu566Trp)
c.737T>G (p.Leu246Trp)
c.704T>G (p.Leu235Trp)
c.185T>G (p.Leu62Trp)
c.1778T>G (p.Leu593Trp)
c.190+2662T>G (n.190+2662T>G)
14g.21324667G>ACA484986032RPGRIP1c.1812G>A (p.Leu604=)
c.688+2663G>A (n.688+2663G>A)
n.270G>A
n.744G>A
c.198G>A (p.Leu66=)
c.297-58G>A
c.154G>A (p.Gly52Arg)
c.237G>A (p.Leu79=)
c.1681+2663G>A (n.1681+2663G>A)
c.1698G>A (p.Leu566=)
c.738G>A (p.Leu246=)
c.705G>A (p.Leu235=)
c.186G>A (p.Leu62=)
c.1779G>A (p.Leu593=)
c.190+2663G>A (n.190+2663G>A)
14g.21324667G>CCA388866899RPGRIP1c.1812G>C (p.Leu604Phe)
c.688+2663G>C (n.688+2663G>C)
n.270G>C
n.744G>C
c.198G>C (p.Leu66Phe)
c.297-58G>C
c.154G>C (p.Gly52Arg)
c.237G>C (p.Leu79Phe)
c.1681+2663G>C (n.1681+2663G>C)
c.1698G>C (p.Leu566Phe)
c.738G>C (p.Leu246Phe)
c.705G>C (p.Leu235Phe)
c.186G>C (p.Leu62Phe)
c.1779G>C (p.Leu593Phe)
c.190+2663G>C (n.190+2663G>C)
14g.21324667G>TCA388866900RPGRIP1c.1812G>T (p.Leu604Phe)
c.688+2663G>T (n.688+2663G>T)
n.270G>T
n.744G>T
c.198G>T (p.Leu66Phe)
c.297-58G>T
c.154G>T (p.Gly52Ter)
c.237G>T (p.Leu79Phe)
c.1681+2663G>T (n.1681+2663G>T)
c.1698G>T (p.Leu566Phe)
c.738G>T (p.Leu246Phe)
c.705G>T (p.Leu235Phe)
c.186G>T (p.Leu62Phe)
c.1779G>T (p.Leu593Phe)
c.190+2663G>T (n.190+2663G>T)
14g.21324668G>ACA388866902RPGRIP1c.1813G>A (p.Glu605Lys)
c.688+2664G>A (n.688+2664G>A)
n.271G>A
n.745G>A
c.199G>A (p.Glu67Lys)
c.297-57G>A
c.155G>A (p.Gly52Glu)
c.238G>A (p.Glu80Lys)
c.1681+2664G>A (n.1681+2664G>A)
c.1699G>A (p.Glu567Lys)
c.739G>A (p.Glu247Lys)
c.706G>A (p.Glu236Lys)
c.187G>A (p.Glu63Lys)
c.1780G>A (p.Glu594Lys)
c.190+2664G>A (n.190+2664G>A)
 COSMIC COSMIC COSMIC
14g.21324668G>CCA388866903RPGRIP1c.1813G>C (p.Glu605Gln)
c.688+2664G>C (n.688+2664G>C)
n.271G>C
n.745G>C
c.199G>C (p.Glu67Gln)
c.297-57G>C
c.155G>C (p.Gly52Ala)
c.238G>C (p.Glu80Gln)
c.1681+2664G>C (n.1681+2664G>C)
c.1699G>C (p.Glu567Gln)
c.739G>C (p.Glu247Gln)
c.706G>C (p.Glu236Gln)
c.187G>C (p.Glu63Gln)
c.1780G>C (p.Glu594Gln)
c.190+2664G>C (n.190+2664G>C)
14g.21324668G>TCA388866901RPGRIP1c.1813G>T (p.Glu605Ter)
c.688+2664G>T (n.688+2664G>T)
n.271G>T
n.745G>T
c.199G>T (p.Glu67Ter)
c.297-57G>T
c.155G>T (p.Gly52Val)
c.238G>T (p.Glu80Ter)
c.1681+2664G>T (n.1681+2664G>T)
c.1699G>T (p.Glu567Ter)
c.739G>T (p.Glu247Ter)
c.706G>T (p.Glu236Ter)
c.187G>T (p.Glu63Ter)
c.1780G>T (p.Glu594Ter)
c.190+2664G>T (n.190+2664G>T)
14g.21324669A>CCA388866904RPGRIP1c.1814A>C (p.Glu605Ala)
c.688+2665A>C (n.688+2665A>C)
n.272A>C
n.746A>C
c.200A>C (p.Glu67Ala)
c.297-56A>C
c.156A>C (p.Gly52=)
c.239A>C (p.Glu80Ala)
c.1681+2665A>C (n.1681+2665A>C)
c.1700A>C (p.Glu567Ala)
c.740A>C (p.Glu247Ala)
c.707A>C (p.Glu236Ala)
c.188A>C (p.Glu63Ala)
c.1781A>C (p.Glu594Ala)
c.190+2665A>C (n.190+2665A>C)
 gnomAD v4
14g.21324669A>GCA388866905RPGRIP1c.1814A>G (p.Glu605Gly)
c.688+2665A>G (n.688+2665A>G)
n.272A>G
n.746A>G
c.200A>G (p.Glu67Gly)
c.297-56A>G
c.156A>G (p.Gly52=)
c.239A>G (p.Glu80Gly)
c.1681+2665A>G (n.1681+2665A>G)
c.1700A>G (p.Glu567Gly)
c.740A>G (p.Glu247Gly)
c.707A>G (p.Glu236Gly)
c.188A>G (p.Glu63Gly)
c.1781A>G (p.Glu594Gly)
c.190+2665A>G (n.190+2665A>G)
14g.21324669A>TCA388866906RPGRIP1c.1814A>T (p.Glu605Val)
c.688+2665A>T (n.688+2665A>T)
n.272A>T
n.746A>T
c.200A>T (p.Glu67Val)
c.297-56A>T
c.156A>T (p.Gly52=)
c.239A>T (p.Glu80Val)
c.1681+2665A>T (n.1681+2665A>T)
c.1700A>T (p.Glu567Val)
c.740A>T (p.Glu247Val)
c.707A>T (p.Glu236Val)
c.188A>T (p.Glu63Val)
c.1781A>T (p.Glu594Val)
c.190+2665A>T (n.190+2665A>T)
14g.21324670A>CCA388866907RPGRIP1c.1815A>C (p.Glu605Asp)
c.688+2666A>C (n.688+2666A>C)
n.273A>C
n.747A>C
c.201A>C (p.Glu67Asp)
c.297-55A>C
c.157A>C (p.Asn53His)
c.240A>C (p.Glu80Asp)
c.1681+2666A>C (n.1681+2666A>C)
c.1701A>C (p.Glu567Asp)
c.741A>C (p.Glu247Asp)
c.708A>C (p.Glu236Asp)
c.189A>C (p.Glu63Asp)
c.1782A>C (p.Glu594Asp)
c.190+2666A>C (n.190+2666A>C)
14g.21324670A>GCA484986033RPGRIP1c.1815A>G (p.Glu605=)
c.688+2666A>G (n.688+2666A>G)
n.273A>G
n.747A>G
c.201A>G (p.Glu67=)
c.297-55A>G
c.157A>G (p.Asn53Asp)
c.240A>G (p.Glu80=)
c.1681+2666A>G (n.1681+2666A>G)
c.1701A>G (p.Glu567=)
c.741A>G (p.Glu247=)
c.708A>G (p.Glu236=)
c.189A>G (p.Glu63=)
c.1782A>G (p.Glu594=)
c.190+2666A>G (n.190+2666A>G)
14g.21324670A>TCA388866908RPGRIP1c.1815A>T (p.Glu605Asp)
c.688+2666A>T (n.688+2666A>T)
n.273A>T
n.747A>T
c.201A>T (p.Glu67Asp)
c.297-55A>T
c.157A>T (p.Asn53Tyr)
c.240A>T (p.Glu80Asp)
c.1681+2666A>T (n.1681+2666A>T)
c.1701A>T (p.Glu567Asp)
c.741A>T (p.Glu247Asp)
c.708A>T (p.Glu236Asp)
c.189A>T (p.Glu63Asp)
c.1782A>T (p.Glu594Asp)
c.190+2666A>T (n.190+2666A>T)
14g.21324671A>CCA388866911RPGRIP1c.1816A>C (p.Thr606Pro)
c.688+2667A>C (n.688+2667A>C)
n.274A>C
n.748A>C
c.202A>C (p.Thr68Pro)
c.297-54A>C
c.158A>C (p.Asn53Thr)
c.241A>C (p.Thr81Pro)
c.1681+2667A>C (n.1681+2667A>C)
c.1702A>C (p.Thr568Pro)
c.742A>C (p.Thr248Pro)
c.709A>C (p.Thr237Pro)
c.190A>C (p.Thr64Pro)
c.1783A>C (p.Thr595Pro)
c.190+2667A>C (n.190+2667A>C)
14g.21324671A>GCA388866909RPGRIP1c.1816A>G (p.Thr606Ala)
c.688+2667A>G (n.688+2667A>G)
n.274A>G
n.748A>G
c.202A>G (p.Thr68Ala)
c.297-54A>G
c.158A>G (p.Asn53Ser)
c.241A>G (p.Thr81Ala)
c.1681+2667A>G (n.1681+2667A>G)
c.1702A>G (p.Thr568Ala)
c.742A>G (p.Thr248Ala)
c.709A>G (p.Thr237Ala)
c.190A>G (p.Thr64Ala)
c.1783A>G (p.Thr595Ala)
c.190+2667A>G (n.190+2667A>G)
14g.21324671A>TCA388866910RPGRIP1c.1816A>T (p.Thr606Ser)
c.688+2667A>T (n.688+2667A>T)
n.274A>T
n.748A>T
c.202A>T (p.Thr68Ser)
c.297-54A>T
c.158A>T (p.Asn53Ile)
c.241A>T (p.Thr81Ser)
c.1681+2667A>T (n.1681+2667A>T)
c.1702A>T (p.Thr568Ser)
c.742A>T (p.Thr248Ser)
c.709A>T (p.Thr237Ser)
c.190A>T (p.Thr64Ser)
c.1783A>T (p.Thr595Ser)
c.190+2667A>T (n.190+2667A>T)
14g.21324672C>ACA388866912RPGRIP1c.1817C>A (p.Thr606Lys)
c.688+2668C>A (n.688+2668C>A)
n.275C>A
n.749C>A
c.203C>A (p.Thr68Lys)
c.297-53C>A
c.159C>A (p.Asn53Lys)
c.242C>A (p.Thr81Lys)
c.1681+2668C>A (n.1681+2668C>A)
c.1703C>A (p.Thr568Lys)
c.743C>A (p.Thr248Lys)
c.710C>A (p.Thr237Lys)
c.191C>A (p.Thr64Lys)
c.1784C>A (p.Thr595Lys)
c.190+2668C>A (n.190+2668C>A)
14g.21324672C=CA2122460031RPGRIP1c.1817C= (p.Thr606=)
c.688+2668C= (n.688+2668C=)
n.275C=
n.749C=
c.203C= (p.Thr68=)
c.297-53C=
c.159C= (p.Asn53=)
c.242C= (p.Thr81=)
c.1681+2668C= (n.1681+2668C=)
c.1703C= (p.Thr568=)
c.743C= (p.Thr248=)
c.710C= (p.Thr237=)
c.191C= (p.Thr64=)
c.1784C= (p.Thr595=)
c.190+2668C= (n.190+2668C=)
14g.21324672C>GCA388866913RPGRIP1c.1817C>G (p.Thr606Arg)
c.688+2668C>G (n.688+2668C>G)
n.275C>G
n.749C>G
c.203C>G (p.Thr68Arg)
c.297-53C>G
c.159C>G (p.Asn53Lys)
c.242C>G (p.Thr81Arg)
c.1681+2668C>G (n.1681+2668C>G)
c.1703C>G (p.Thr568Arg)
c.743C>G (p.Thr248Arg)
c.710C>G (p.Thr237Arg)
c.191C>G (p.Thr64Arg)
c.1784C>G (p.Thr595Arg)
c.190+2668C>G (n.190+2668C>G)
14g.21324672C>TCA7089103RPGRIP1c.1817C>T (p.Thr606Ile)
c.688+2668C>T (n.688+2668C>T)
n.275C>T
n.749C>T
c.203C>T (p.Thr68Ile)
c.297-53C>T
c.159C>T (p.Asn53=)
c.242C>T (p.Thr81Ile)
c.1681+2668C>T (n.1681+2668C>T)
c.1703C>T (p.Thr568Ile)
c.743C>T (p.Thr248Ile)
c.710C>T (p.Thr237Ile)
c.191C>T (p.Thr64Ile)
c.1784C>T (p.Thr595Ile)
c.190+2668C>T (n.190+2668C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21324673A>CCA484986034RPGRIP1c.1818A>C (p.Thr606=)
c.688+2669A>C (n.688+2669A>C)
n.276A>C
n.750A>C
c.204A>C (p.Thr68=)
c.297-52A>C
c.160A>C (p.Thr54Pro)
c.243A>C (p.Thr81=)
c.1681+2669A>C (n.1681+2669A>C)
c.1704A>C (p.Thr568=)
c.744A>C (p.Thr248=)
c.711A>C (p.Thr237=)
c.192A>C (p.Thr64=)
c.1785A>C (p.Thr595=)
c.190+2669A>C (n.190+2669A>C)
14g.21324673A>GCA484986035RPGRIP1c.1818A>G (p.Thr606=)
c.688+2669A>G (n.688+2669A>G)
n.276A>G
n.750A>G
c.204A>G (p.Thr68=)
c.297-52A>G
c.160A>G (p.Thr54Ala)
c.243A>G (p.Thr81=)
c.1681+2669A>G (n.1681+2669A>G)
c.1704A>G (p.Thr568=)
c.744A>G (p.Thr248=)
c.711A>G (p.Thr237=)
c.192A>G (p.Thr64=)
c.1785A>G (p.Thr595=)
c.190+2669A>G (n.190+2669A>G)
14g.21324673A>TCA484986036RPGRIP1c.1818A>T (p.Thr606=)
c.688+2669A>T (n.688+2669A>T)
n.276A>T
n.750A>T
c.204A>T (p.Thr68=)
c.297-52A>T
c.160A>T (p.Thr54Ser)
c.243A>T (p.Thr81=)
c.1681+2669A>T (n.1681+2669A>T)
c.1704A>T (p.Thr568=)
c.744A>T (p.Thr248=)
c.711A>T (p.Thr237=)
c.192A>T (p.Thr64=)
c.1785A>T (p.Thr595=)
c.190+2669A>T (n.190+2669A>T)
14g.21324674C>ACA388866914RPGRIP1c.1819C>A (p.Leu607Met)
c.688+2670C>A (n.688+2670C>A)
n.277C>A
n.751C>A
c.205C>A (p.Leu69Met)
c.297-51C>A
c.161C>A (p.Thr54Asn)
c.244C>A (p.Leu82Met)
c.1681+2670C>A (n.1681+2670C>A)
c.1705C>A (p.Leu569Met)
c.745C>A (p.Leu249Met)
c.712C>A (p.Leu238Met)
c.193C>A (p.Leu65Met)
c.1786C>A (p.Leu596Met)
c.190+2670C>A (n.190+2670C>A)
14g.21324674C>GCA388866915RPGRIP1c.1819C>G (p.Leu607Val)
c.688+2670C>G (n.688+2670C>G)
n.277C>G
n.751C>G
c.205C>G (p.Leu69Val)
c.297-51C>G
c.161C>G (p.Thr54Ser)
c.244C>G (p.Leu82Val)
c.1681+2670C>G (n.1681+2670C>G)
c.1705C>G (p.Leu569Val)
c.745C>G (p.Leu249Val)
c.712C>G (p.Leu238Val)
c.193C>G (p.Leu65Val)
c.1786C>G (p.Leu596Val)
c.190+2670C>G (n.190+2670C>G)
14g.21324674C>TCA484986037RPGRIP1c.1819C>T (p.Leu607=)
c.688+2670C>T (n.688+2670C>T)
n.277C>T
n.751C>T
c.205C>T (p.Leu69=)
c.297-51C>T
c.161C>T (p.Thr54Ile)
c.244C>T (p.Leu82=)
c.1681+2670C>T (n.1681+2670C>T)
c.1705C>T (p.Leu569=)
c.745C>T (p.Leu249=)
c.712C>T (p.Leu238=)
c.193C>T (p.Leu65=)
c.1786C>T (p.Leu596=)
c.190+2670C>T (n.190+2670C>T)
14g.21324675T>ACA7089104RPGRIP1c.1820T>A (p.Leu607Gln)
c.688+2671T>A (n.688+2671T>A)
n.278T>A
n.752T>A
c.206T>A (p.Leu69Gln)
c.297-50T>A
c.162T>A (p.Thr54=)
c.245T>A (p.Leu82Gln)
c.1681+2671T>A (n.1681+2671T>A)
c.1706T>A (p.Leu569Gln)
c.746T>A (p.Leu249Gln)
c.713T>A (p.Leu238Gln)
c.194T>A (p.Leu65Gln)
c.1787T>A (p.Leu596Gln)
c.190+2671T>A (n.190+2671T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21324675T>CCA388866917RPGRIP1c.1820T>C (p.Leu607Pro)
c.688+2671T>C (n.688+2671T>C)
n.278T>C
n.752T>C
c.206T>C (p.Leu69Pro)
c.297-50T>C
c.162T>C (p.Thr54=)
c.245T>C (p.Leu82Pro)
c.1681+2671T>C (n.1681+2671T>C)
c.1706T>C (p.Leu569Pro)
c.746T>C (p.Leu249Pro)
c.713T>C (p.Leu238Pro)
c.194T>C (p.Leu65Pro)
c.1787T>C (p.Leu596Pro)
c.190+2671T>C (n.190+2671T>C)
14g.21324675T>GCA388866916RPGRIP1c.1820T>G (p.Leu607Arg)
c.688+2671T>G (n.688+2671T>G)
n.278T>G
n.752T>G
c.206T>G (p.Leu69Arg)
c.297-50T>G
c.162T>G (p.Thr54=)
c.245T>G (p.Leu82Arg)
c.1681+2671T>G (n.1681+2671T>G)
c.1706T>G (p.Leu569Arg)
c.746T>G (p.Leu249Arg)
c.713T>G (p.Leu238Arg)
c.194T>G (p.Leu65Arg)
c.1787T>G (p.Leu596Arg)
c.190+2671T>G (n.190+2671T>G)
14g.21324675T=CA2122460034RPGRIP1c.1820T= (p.Leu607=)
c.688+2671T= (n.688+2671T=)
n.278T=
n.752T=
c.206T= (p.Leu69=)
c.297-50T=
c.162T= (p.Thr54=)
c.245T= (p.Leu82=)
c.1681+2671T= (n.1681+2671T=)
c.1706T= (p.Leu569=)
c.746T= (p.Leu249=)
c.713T= (p.Leu238=)
c.194T= (p.Leu65=)
c.1787T= (p.Leu596=)
c.190+2671T= (n.190+2671T=)
14g.21324676G>ACA484986038RPGRIP1c.1821G>A (p.Leu607=)
c.688+2672G>A (n.688+2672G>A)
n.279G>A
n.753G>A
c.207G>A (p.Leu69=)
c.297-49G>A
c.163G>A (p.Ala55Thr)
c.246G>A (p.Leu82=)
c.1681+2672G>A (n.1681+2672G>A)
c.1707G>A (p.Leu569=)
c.747G>A (p.Leu249=)
c.714G>A (p.Leu238=)
c.195G>A (p.Leu65=)
c.1788G>A (p.Leu596=)
c.190+2672G>A (n.190+2672G>A)
 dbSNP gnomAD v2 gnomAD v4
14g.21324676G>CCA484986040RPGRIP1c.1821G>C (p.Leu607=)
c.688+2672G>C (n.688+2672G>C)
n.279G>C
n.753G>C
c.207G>C (p.Leu69=)
c.297-49G>C
c.163G>C (p.Ala55Pro)
c.246G>C (p.Leu82=)
c.1681+2672G>C (n.1681+2672G>C)
c.1707G>C (p.Leu569=)
c.747G>C (p.Leu249=)
c.714G>C (p.Leu238=)
c.195G>C (p.Leu65=)
c.1788G>C (p.Leu596=)
c.190+2672G>C (n.190+2672G>C)
14g.21324676G=CA2122460037RPGRIP1c.1821G= (p.Leu607=)
c.688+2672G= (n.688+2672G=)
n.279G=
n.753G=
c.207G= (p.Leu69=)
c.297-49G=
c.163G= (p.Ala55=)
c.246G= (p.Leu82=)
c.1681+2672G= (n.1681+2672G=)
c.1707G= (p.Leu569=)
c.747G= (p.Leu249=)
c.714G= (p.Leu238=)
c.195G= (p.Leu65=)
c.1788G= (p.Leu596=)
c.190+2672G= (n.190+2672G=)
14g.21324676G>TCA484986039RPGRIP1c.1821G>T (p.Leu607=)
c.688+2672G>T (n.688+2672G>T)
n.279G>T
n.753G>T
c.207G>T (p.Leu69=)
c.297-49G>T
c.163G>T (p.Ala55Ser)
c.246G>T (p.Leu82=)
c.1681+2672G>T (n.1681+2672G>T)
c.1707G>T (p.Leu569=)
c.747G>T (p.Leu249=)
c.714G>T (p.Leu238=)
c.195G>T (p.Leu65=)
c.1788G>T (p.Leu596=)
c.190+2672G>T (n.190+2672G>T)
14g.21324677C>ACA7089105RPGRIP1c.1822C>A (p.Pro608Thr)
c.688+2673C>A (n.688+2673C>A)
n.280C>A
n.754C>A
c.208C>A (p.Pro70Thr)
c.297-48C>A
c.164C>A (p.Ala55Asp)
c.247C>A (p.Pro83Thr)
c.1681+2673C>A (n.1681+2673C>A)
c.1708C>A (p.Pro570Thr)
c.748C>A (p.Pro250Thr)
c.715C>A (p.Pro239Thr)
c.196C>A (p.Pro66Thr)
c.1789C>A (p.Pro597Thr)
c.190+2673C>A (n.190+2673C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21324677C=CA2122460041RPGRIP1c.1822C= (p.Pro608=)
c.688+2673C= (n.688+2673C=)
n.280C=
n.754C=
c.208C= (p.Pro70=)
c.297-48C=
c.164C= (p.Ala55=)
c.247C= (p.Pro83=)
c.1681+2673C= (n.1681+2673C=)
c.1708C= (p.Pro570=)
c.748C= (p.Pro250=)
c.715C= (p.Pro239=)
c.196C= (p.Pro66=)
c.1789C= (p.Pro597=)
c.190+2673C= (n.190+2673C=)
14g.21324677C>GCA388866918RPGRIP1c.1822C>G (p.Pro608Ala)
c.688+2673C>G (n.688+2673C>G)
n.280C>G
n.754C>G
c.208C>G (p.Pro70Ala)
c.297-48C>G
c.164C>G (p.Ala55Gly)
c.247C>G (p.Pro83Ala)
c.1681+2673C>G (n.1681+2673C>G)
c.1708C>G (p.Pro570Ala)
c.748C>G (p.Pro250Ala)
c.715C>G (p.Pro239Ala)
c.196C>G (p.Pro66Ala)
c.1789C>G (p.Pro597Ala)
c.190+2673C>G (n.190+2673C>G)
14g.21324677C>TCA388866919RPGRIP1c.1822C>T (p.Pro608Ser)
c.688+2673C>T (n.688+2673C>T)
n.280C>T
n.754C>T
c.208C>T (p.Pro70Ser)
c.297-48C>T
c.164C>T (p.Ala55Val)
c.247C>T (p.Pro83Ser)
c.1681+2673C>T (n.1681+2673C>T)
c.1708C>T (p.Pro570Ser)
c.748C>T (p.Pro250Ser)
c.715C>T (p.Pro239Ser)
c.196C>T (p.Pro66Ser)
c.1789C>T (p.Pro597Ser)
c.190+2673C>T (n.190+2673C>T)
14g.21324678C>ACA388866920RPGRIP1c.1823C>A (p.Pro608Gln)
c.688+2674C>A (n.688+2674C>A)
n.281C>A
n.755C>A
c.209C>A (p.Pro70Gln)
c.297-47C>A
c.165C>A (p.Ala55=)
c.248C>A (p.Pro83Gln)
c.1681+2674C>A (n.1681+2674C>A)
c.1709C>A (p.Pro570Gln)
c.749C>A (p.Pro250Gln)
c.716C>A (p.Pro239Gln)
c.197C>A (p.Pro66Gln)
c.1790C>A (p.Pro597Gln)
c.190+2674C>A (n.190+2674C>A)
14g.21324678C>GCA388866921RPGRIP1c.1823C>G (p.Pro608Arg)
c.688+2674C>G (n.688+2674C>G)
n.281C>G
n.755C>G
c.209C>G (p.Pro70Arg)
c.297-47C>G
c.165C>G (p.Ala55=)
c.248C>G (p.Pro83Arg)
c.1681+2674C>G (n.1681+2674C>G)
c.1709C>G (p.Pro570Arg)
c.749C>G (p.Pro250Arg)
c.716C>G (p.Pro239Arg)
c.197C>G (p.Pro66Arg)
c.1790C>G (p.Pro597Arg)
c.190+2674C>G (n.190+2674C>G)
14g.21324678C>TCA388866922RPGRIP1c.1823C>T (p.Pro608Leu)
c.688+2674C>T (n.688+2674C>T)
n.281C>T
n.755C>T
c.209C>T (p.Pro70Leu)
c.297-47C>T
c.165C>T (p.Ala55=)
c.248C>T (p.Pro83Leu)
c.1681+2674C>T (n.1681+2674C>T)
c.1709C>T (p.Pro570Leu)
c.749C>T (p.Pro250Leu)
c.716C>T (p.Pro239Leu)
c.197C>T (p.Pro66Leu)
c.1790C>T (p.Pro597Leu)
c.190+2674C>T (n.190+2674C>T)
14g.21324679A>CCA484986043RPGRIP1c.1824A>C (p.Pro608=)
c.688+2675A>C (n.688+2675A>C)
n.282A>C
n.756A>C
c.210A>C (p.Pro70=)
c.297-46A>C
c.166A>C (p.Ser56Arg)
c.249A>C (p.Pro83=)
c.1681+2675A>C (n.1681+2675A>C)
c.1710A>C (p.Pro570=)
c.750A>C (p.Pro250=)
c.717A>C (p.Pro239=)
c.198A>C (p.Pro66=)
c.1791A>C (p.Pro597=)
c.190+2675A>C (n.190+2675A>C)
14g.21324679A>GCA484986041RPGRIP1c.1824A>G (p.Pro608=)
c.688+2675A>G (n.688+2675A>G)
n.282A>G
n.756A>G
c.210A>G (p.Pro70=)
c.297-46A>G
c.166A>G (p.Ser56Gly)
c.249A>G (p.Pro83=)
c.1681+2675A>G (n.1681+2675A>G)
c.1710A>G (p.Pro570=)
c.750A>G (p.Pro250=)
c.717A>G (p.Pro239=)
c.198A>G (p.Pro66=)
c.1791A>G (p.Pro597=)
c.190+2675A>G (n.190+2675A>G)
14g.21324679A>TCA484986042RPGRIP1c.1824A>T (p.Pro608=)
c.688+2675A>T (n.688+2675A>T)
n.282A>T
n.756A>T
c.210A>T (p.Pro70=)
c.297-46A>T
c.166A>T (p.Ser56Cys)
c.249A>T (p.Pro83=)
c.1681+2675A>T (n.1681+2675A>T)
c.1710A>T (p.Pro570=)
c.750A>T (p.Pro250=)
c.717A>T (p.Pro239=)
c.198A>T (p.Pro66=)
c.1791A>T (p.Pro597=)
c.190+2675A>T (n.190+2675A>T)
14g.21324680G>ACA388866925RPGRIP1c.1825G>A (p.Ala609Thr)
c.688+2676G>A (n.688+2676G>A)
n.283G>A
n.757G>A
c.211G>A (p.Ala71Thr)
c.297-45G>A
c.167G>A (p.Ser56Asn)
c.250G>A (p.Ala84Thr)
c.1681+2676G>A (n.1681+2676G>A)
c.1711G>A (p.Ala571Thr)
c.751G>A (p.Ala251Thr)
c.718G>A (p.Ala240Thr)
c.199G>A (p.Ala67Thr)
c.1792G>A (p.Ala598Thr)
c.190+2676G>A (n.190+2676G>A)
14g.21324680G>CCA388866924RPGRIP1c.1825G>C (p.Ala609Pro)
c.688+2676G>C (n.688+2676G>C)
n.283G>C
n.757G>C
c.211G>C (p.Ala71Pro)
c.297-45G>C
c.167G>C (p.Ser56Thr)
c.250G>C (p.Ala84Pro)
c.1681+2676G>C (n.1681+2676G>C)
c.1711G>C (p.Ala571Pro)
c.751G>C (p.Ala251Pro)
c.718G>C (p.Ala240Pro)
c.199G>C (p.Ala67Pro)
c.1792G>C (p.Ala598Pro)
c.190+2676G>C (n.190+2676G>C)
14g.21324680G>TCA388866923RPGRIP1c.1825G>T (p.Ala609Ser)
c.688+2676G>T (n.688+2676G>T)
n.283G>T
n.757G>T
c.211G>T (p.Ala71Ser)
c.297-45G>T
c.167G>T (p.Ser56Ile)
c.250G>T (p.Ala84Ser)
c.1681+2676G>T (n.1681+2676G>T)
c.1711G>T (p.Ala571Ser)
c.751G>T (p.Ala251Ser)
c.718G>T (p.Ala240Ser)
c.199G>T (p.Ala67Ser)
c.1792G>T (p.Ala598Ser)
c.190+2676G>T (n.190+2676G>T)
 gnomAD v4
14g.21324681C>ACA388866926RPGRIP1c.1826C>A (p.Ala609Asp)
c.688+2677C>A (n.688+2677C>A)
n.284C>A
n.758C>A
c.212C>A (p.Ala71Asp)
c.297-44C>A
c.168C>A (p.Ser56Arg)
c.251C>A (p.Ala84Asp)
c.1681+2677C>A (n.1681+2677C>A)
c.1712C>A (p.Ala571Asp)
c.752C>A (p.Ala251Asp)
c.719C>A (p.Ala240Asp)
c.200C>A (p.Ala67Asp)
c.1793C>A (p.Ala598Asp)
c.190+2677C>A (n.190+2677C>A)
14g.21324681C>GCA388866927RPGRIP1c.1826C>G (p.Ala609Gly)
c.688+2677C>G (n.688+2677C>G)
n.284C>G
n.758C>G
c.212C>G (p.Ala71Gly)
c.297-44C>G
c.168C>G (p.Ser56Arg)
c.251C>G (p.Ala84Gly)
c.1681+2677C>G (n.1681+2677C>G)
c.1712C>G (p.Ala571Gly)
c.752C>G (p.Ala251Gly)
c.719C>G (p.Ala240Gly)
c.200C>G (p.Ala67Gly)
c.1793C>G (p.Ala598Gly)
c.190+2677C>G (n.190+2677C>G)
14g.21324681C>TCA388866928RPGRIP1c.1826C>T (p.Ala609Val)
c.688+2677C>T (n.688+2677C>T)
n.284C>T
n.758C>T
c.212C>T (p.Ala71Val)
c.297-44C>T
c.168C>T (p.Ser56=)
c.251C>T (p.Ala84Val)
c.1681+2677C>T (n.1681+2677C>T)
c.1712C>T (p.Ala571Val)
c.752C>T (p.Ala251Val)
c.719C>T (p.Ala240Val)
c.200C>T (p.Ala67Val)
c.1793C>T (p.Ala598Val)
c.190+2677C>T (n.190+2677C>T)
 gnomAD v4
14g.21324682C>ACA484986044RPGRIP1c.1827C>A (p.Ala609=)
c.688+2678C>A (n.688+2678C>A)
n.285C>A
n.759C>A
c.213C>A (p.Ala71=)
c.297-43C>A
c.169C>A (p.Pro57Thr)
c.252C>A (p.Ala84=)
c.1681+2678C>A (n.1681+2678C>A)
c.1713C>A (p.Ala571=)
c.753C>A (p.Ala251=)
c.720C>A (p.Ala240=)
c.201C>A (p.Ala67=)
c.1794C>A (p.Ala598=)
c.190+2678C>A (n.190+2678C>A)
14g.21324682C>GCA484986045RPGRIP1c.1827C>G (p.Ala609=)
c.688+2678C>G (n.688+2678C>G)
n.285C>G
n.759C>G
c.213C>G (p.Ala71=)
c.297-43C>G
c.169C>G (p.Pro57Ala)
c.252C>G (p.Ala84=)
c.1681+2678C>G (n.1681+2678C>G)
c.1713C>G (p.Ala571=)
c.753C>G (p.Ala251=)
c.720C>G (p.Ala240=)
c.201C>G (p.Ala67=)
c.1794C>G (p.Ala598=)
c.190+2678C>G (n.190+2678C>G)
14g.21324682C>TCA484986046RPGRIP1c.1827C>T (p.Ala609=)
c.688+2678C>T (n.688+2678C>T)
n.285C>T
n.759C>T
c.213C>T (p.Ala71=)
c.297-43C>T
c.169C>T (p.Pro57Ser)
c.252C>T (p.Ala84=)
c.1681+2678C>T (n.1681+2678C>T)
c.1713C>T (p.Ala571=)
c.753C>T (p.Ala251=)
c.720C>T (p.Ala240=)
c.201C>T (p.Ala67=)
c.1794C>T (p.Ala598=)
c.190+2678C>T (n.190+2678C>T)
 COSMIC COSMIC COSMIC
14g.21324683C>ACA388866929RPGRIP1c.1828C>A (p.His610Asn)
c.688+2679C>A (n.688+2679C>A)
n.286C>A
n.760C>A
c.214C>A (p.His72Asn)
c.297-42C>A
c.170C>A (p.Pro57Gln)
c.253C>A (p.His85Asn)
c.1681+2679C>A (n.1681+2679C>A)
c.1714C>A (p.His572Asn)
c.754C>A (p.His252Asn)
c.721C>A (p.His241Asn)
c.202C>A (p.His68Asn)
c.1795C>A (p.His599Asn)
c.190+2679C>A (n.190+2679C>A)
14g.21324683C>GCA388866930RPGRIP1c.1828C>G (p.His610Asp)
c.688+2679C>G (n.688+2679C>G)
n.286C>G
n.760C>G
c.214C>G (p.His72Asp)
c.297-42C>G
c.170C>G (p.Pro57Arg)
c.253C>G (p.His85Asp)
c.1681+2679C>G (n.1681+2679C>G)
c.1714C>G (p.His572Asp)
c.754C>G (p.His252Asp)
c.721C>G (p.His241Asp)
c.202C>G (p.His68Asp)
c.1795C>G (p.His599Asp)
c.190+2679C>G (n.190+2679C>G)
14g.21324683C>TCA388866931RPGRIP1c.1828C>T (p.His610Tyr)
c.688+2679C>T (n.688+2679C>T)
n.286C>T
n.760C>T
c.214C>T (p.His72Tyr)
c.297-42C>T
c.170C>T (p.Pro57Leu)
c.253C>T (p.His85Tyr)
c.1681+2679C>T (n.1681+2679C>T)
c.1714C>T (p.His572Tyr)
c.754C>T (p.His252Tyr)
c.721C>T (p.His241Tyr)
c.202C>T (p.His68Tyr)
c.1795C>T (p.His599Tyr)
c.190+2679C>T (n.190+2679C>T)
 gnomAD v4
14g.21324684A=CA2122460047RPGRIP1c.1829A= (p.His610=)
c.688+2680A= (n.688+2680A=)
n.287A=
n.761A=
c.215A= (p.His72=)
c.297-41A=
c.171A= (p.Pro57=)
c.254A= (p.His85=)
c.1681+2680A= (n.1681+2680A=)
c.1715A= (p.His572=)
c.755A= (p.His252=)
c.722A= (p.His241=)
c.203A= (p.His68=)
c.1796A= (p.His599=)
c.190+2680A= (n.190+2680A=)
14g.21324684A>CCA388866932RPGRIP1c.1829A>C (p.His610Pro)
c.688+2680A>C (n.688+2680A>C)
n.287A>C
n.761A>C
c.215A>C (p.His72Pro)
c.297-41A>C
c.171A>C (p.Pro57=)
c.254A>C (p.His85Pro)
c.1681+2680A>C (n.1681+2680A>C)
c.1715A>C (p.His572Pro)
c.755A>C (p.His252Pro)
c.722A>C (p.His241Pro)
c.203A>C (p.His68Pro)
c.1796A>C (p.His599Pro)
c.190+2680A>C (n.190+2680A>C)
14g.21324684A>GCA7089106RPGRIP1c.1829A>G (p.His610Arg)
c.688+2680A>G (n.688+2680A>G)
n.287A>G
n.761A>G
c.215A>G (p.His72Arg)
c.297-41A>G
c.171A>G (p.Pro57=)
c.254A>G (p.His85Arg)
c.1681+2680A>G (n.1681+2680A>G)
c.1715A>G (p.His572Arg)
c.755A>G (p.His252Arg)
c.722A>G (p.His241Arg)
c.203A>G (p.His68Arg)
c.1796A>G (p.His599Arg)
c.190+2680A>G (n.190+2680A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21324684A>TCA388866933RPGRIP1c.1829A>T (p.His610Leu)
c.688+2680A>T (n.688+2680A>T)
n.287A>T
n.761A>T
c.215A>T (p.His72Leu)
c.297-41A>T
c.171A>T (p.Pro57=)
c.254A>T (p.His85Leu)
c.1681+2680A>T (n.1681+2680A>T)
c.1715A>T (p.His572Leu)
c.755A>T (p.His252Leu)
c.722A>T (p.His241Leu)
c.203A>T (p.His68Leu)
c.1796A>T (p.His599Leu)
c.190+2680A>T (n.190+2680A>T)
14g.21324685T>ACA388866934RPGRIP1c.1830T>A (p.His610Gln)
c.688+2681T>A (n.688+2681T>A)
n.288T>A
n.762T>A
c.216T>A (p.His72Gln)
c.297-40T>A
c.172T>A (p.Trp58Arg)
c.255T>A (p.His85Gln)
c.1681+2681T>A (n.1681+2681T>A)
c.1716T>A (p.His572Gln)
c.756T>A (p.His252Gln)
c.723T>A (p.His241Gln)
c.204T>A (p.His68Gln)
c.1797T>A (p.His599Gln)
c.190+2681T>A (n.190+2681T>A)
14g.21324685T>CCA7089107RPGRIP1c.1830T>C (p.His610=)
c.688+2681T>C (n.688+2681T>C)
n.288T>C
n.762T>C
c.216T>C (p.His72=)
c.297-40T>C
c.172T>C (p.Trp58Arg)
c.255T>C (p.His85=)
c.1681+2681T>C (n.1681+2681T>C)
c.1716T>C (p.His572=)
c.756T>C (p.His252=)
c.723T>C (p.His241=)
c.204T>C (p.His68=)
c.1797T>C (p.His599=)
c.190+2681T>C (n.190+2681T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21324685T>GCA388866935RPGRIP1c.1830T>G (p.His610Gln)
c.688+2681T>G (n.688+2681T>G)
n.288T>G
n.762T>G
c.216T>G (p.His72Gln)
c.297-40T>G
c.172T>G (p.Trp58Gly)
c.255T>G (p.His85Gln)
c.1681+2681T>G (n.1681+2681T>G)
c.1716T>G (p.His572Gln)
c.756T>G (p.His252Gln)
c.723T>G (p.His241Gln)
c.204T>G (p.His68Gln)
c.1797T>G (p.His599Gln)
c.190+2681T>G (n.190+2681T>G)
 gnomAD v4
14g.21324685T=CA2122460050RPGRIP1c.1830T= (p.His610=)
c.688+2681T= (n.688+2681T=)
n.288T=
n.762T=
c.216T= (p.His72=)
c.297-40T=
c.172T= (p.Trp58=)
c.255T= (p.His85=)
c.1681+2681T= (n.1681+2681T=)
c.1716T= (p.His572=)
c.756T= (p.His252=)
c.723T= (p.His241=)
c.204T= (p.His68=)
c.1797T= (p.His599=)
c.190+2681T= (n.190+2681T=)
14g.21324686G>ACA388866936RPGRIP1c.1831G>A (p.Gly611Arg)
c.688+2682G>A (n.688+2682G>A)
n.289G>A
n.763G>A
c.217G>A (p.Gly73Arg)
c.297-39G>A
c.173G>A (p.Trp58Ter)
c.256G>A (p.Gly86Arg)
c.1681+2682G>A (n.1681+2682G>A)
c.1717G>A (p.Gly573Arg)
c.757G>A (p.Gly253Arg)
c.724G>A (p.Gly242Arg)
c.205G>A (p.Gly69Arg)
c.1798G>A (p.Gly600Arg)
c.190+2682G>A (n.190+2682G>A)
14g.21324686G>CCA388866937RPGRIP1c.1831G>C (p.Gly611Arg)
c.688+2682G>C (n.688+2682G>C)
n.289G>C
n.763G>C
c.217G>C (p.Gly73Arg)
c.297-39G>C
c.173G>C (p.Trp58Ser)
c.256G>C (p.Gly86Arg)
c.1681+2682G>C (n.1681+2682G>C)
c.1717G>C (p.Gly573Arg)
c.757G>C (p.Gly253Arg)
c.724G>C (p.Gly242Arg)
c.205G>C (p.Gly69Arg)
c.1798G>C (p.Gly600Arg)
c.190+2682G>C (n.190+2682G>C)
14g.21324686G>TCA388866938RPGRIP1c.1831G>T (p.Gly611Ter)
c.688+2682G>T (n.688+2682G>T)
n.289G>T
n.763G>T
c.217G>T (p.Gly73Ter)
c.297-39G>T
c.173G>T (p.Trp58Leu)
c.256G>T (p.Gly86Ter)
c.1681+2682G>T (n.1681+2682G>T)
c.1717G>T (p.Gly573Ter)
c.757G>T (p.Gly253Ter)
c.724G>T (p.Gly242Ter)
c.205G>T (p.Gly69Ter)
c.1798G>T (p.Gly600Ter)
c.190+2682G>T (n.190+2682G>T)
14g.21324687G>ACA388866939RPGRIP1c.1832G>A (p.Gly611Glu)
c.688+2683G>A (n.688+2683G>A)
n.290G>A
n.764G>A
c.218G>A (p.Gly73Glu)
c.297-38G>A
c.174G>A (p.Trp58Ter)
c.257G>A (p.Gly86Glu)
c.1681+2683G>A (n.1681+2683G>A)
c.1718G>A (p.Gly573Glu)
c.758G>A (p.Gly253Glu)
c.725G>A (p.Gly242Glu)
c.206G>A (p.Gly69Glu)
c.1799G>A (p.Gly600Glu)
c.190+2683G>A (n.190+2683G>A)
14g.21324687G>CCA388866940RPGRIP1c.1832G>C (p.Gly611Ala)
c.688+2683G>C (n.688+2683G>C)
n.290G>C
n.764G>C
c.218G>C (p.Gly73Ala)
c.297-38G>C
c.174G>C (p.Trp58Cys)
c.257G>C (p.Gly86Ala)
c.1681+2683G>C (n.1681+2683G>C)
c.1718G>C (p.Gly573Ala)
c.758G>C (p.Gly253Ala)
c.725G>C (p.Gly242Ala)
c.206G>C (p.Gly69Ala)
c.1799G>C (p.Gly600Ala)
c.190+2683G>C (n.190+2683G>C)
14g.21324687G>TCA388866941RPGRIP1c.1832G>T (p.Gly611Val)
c.688+2683G>T (n.688+2683G>T)
n.290G>T
n.764G>T
c.218G>T (p.Gly73Val)
c.297-38G>T
c.174G>T (p.Trp58Cys)
c.257G>T (p.Gly86Val)
c.1681+2683G>T (n.1681+2683G>T)
c.1718G>T (p.Gly573Val)
c.758G>T (p.Gly253Val)
c.725G>T (p.Gly242Val)
c.206G>T (p.Gly69Val)
c.1799G>T (p.Gly600Val)
c.190+2683G>T (n.190+2683G>T)
14g.21324688A>CCA484986047RPGRIP1c.1833A>C (p.Gly611=)
c.688+2684A>C (n.688+2684A>C)
n.291A>C
n.765A>C
c.219A>C (p.Gly73=)
c.297-37A>C
c.175A>C (p.Arg59=)
c.258A>C (p.Gly86=)
c.1681+2684A>C (n.1681+2684A>C)
c.1719A>C (p.Gly573=)
c.759A>C (p.Gly253=)
c.726A>C (p.Gly242=)
c.207A>C (p.Gly69=)
c.1800A>C (p.Gly600=)
c.190+2684A>C (n.190+2684A>C)
14g.21324688A>GCA484986049RPGRIP1c.1833A>G (p.Gly611=)
c.688+2684A>G (n.688+2684A>G)
n.291A>G
n.765A>G
c.219A>G (p.Gly73=)
c.297-37A>G
c.175A>G (p.Arg59Gly)
c.258A>G (p.Gly86=)
c.1681+2684A>G (n.1681+2684A>G)
c.1719A>G (p.Gly573=)
c.759A>G (p.Gly253=)
c.726A>G (p.Gly242=)
c.207A>G (p.Gly69=)
c.1800A>G (p.Gly600=)
c.190+2684A>G (n.190+2684A>G)
 gnomAD v4
14g.21324688A>TCA484986048RPGRIP1c.1833A>T (p.Gly611=)
c.688+2684A>T (n.688+2684A>T)
n.291A>T
n.765A>T
c.219A>T (p.Gly73=)
c.297-37A>T
c.175A>T (p.Arg59Ter)
c.258A>T (p.Gly86=)
c.1681+2684A>T (n.1681+2684A>T)
c.1719A>T (p.Gly573=)
c.759A>T (p.Gly253=)
c.726A>T (p.Gly242=)
c.207A>T (p.Gly69=)
c.1800A>T (p.Gly600=)
c.190+2684A>T (n.190+2684A>T)
 gnomAD v4
14g.21324689G>ACA388866942RPGRIP1c.1834G>A (p.Asp612Asn)
c.688+2685G>A (n.688+2685G>A)
n.292G>A
n.766G>A
c.220G>A (p.Asp74Asn)
c.297-36G>A
c.176G>A (p.Arg59Lys)
c.259G>A (p.Asp87Asn)
c.1681+2685G>A (n.1681+2685G>A)
c.1720G>A (p.Asp574Asn)
c.760G>A (p.Asp254Asn)
c.727G>A (p.Asp243Asn)
c.208G>A (p.Asp70Asn)
c.1801G>A (p.Asp601Asn)
c.190+2685G>A (n.190+2685G>A)
14g.21324689G>CCA388866943RPGRIP1c.1834G>C (p.Asp612His)
c.688+2685G>C (n.688+2685G>C)
n.292G>C
n.766G>C
c.220G>C (p.Asp74His)
c.297-36G>C
c.176G>C (p.Arg59Thr)
c.259G>C (p.Asp87His)
c.1681+2685G>C (n.1681+2685G>C)
c.1720G>C (p.Asp574His)
c.760G>C (p.Asp254His)
c.727G>C (p.Asp243His)
c.208G>C (p.Asp70His)
c.1801G>C (p.Asp601His)
c.190+2685G>C (n.190+2685G>C)
14g.21324689G>TCA388866944RPGRIP1c.1834G>T (p.Asp612Tyr)
c.688+2685G>T (n.688+2685G>T)
n.292G>T
n.766G>T
c.220G>T (p.Asp74Tyr)
c.297-36G>T
c.176G>T (p.Arg59Ile)
c.259G>T (p.Asp87Tyr)
c.1681+2685G>T (n.1681+2685G>T)
c.1720G>T (p.Asp574Tyr)
c.760G>T (p.Asp254Tyr)
c.727G>T (p.Asp243Tyr)
c.208G>T (p.Asp70Tyr)
c.1801G>T (p.Asp601Tyr)
c.190+2685G>T (n.190+2685G>T)
14g.21324690A>CCA388866947RPGRIP1c.1835A>C (p.Asp612Ala)
c.688+2686A>C (n.688+2686A>C)
n.293A>C
n.767A>C
c.221A>C (p.Asp74Ala)
c.297-35A>C
c.177A>C (p.Arg59Ser)
c.260A>C (p.Asp87Ala)
c.1681+2686A>C (n.1681+2686A>C)
c.1721A>C (p.Asp574Ala)
c.761A>C (p.Asp254Ala)
c.728A>C (p.Asp243Ala)
c.209A>C (p.Asp70Ala)
c.1802A>C (p.Asp601Ala)
c.190+2686A>C (n.190+2686A>C)
14g.21324690A>GCA388866945RPGRIP1c.1835A>G (p.Asp612Gly)
c.688+2686A>G (n.688+2686A>G)
n.293A>G
n.767A>G
c.221A>G (p.Asp74Gly)
c.297-35A>G
c.177A>G (p.Arg59=)
c.260A>G (p.Asp87Gly)
c.1681+2686A>G (n.1681+2686A>G)
c.1721A>G (p.Asp574Gly)
c.761A>G (p.Asp254Gly)
c.728A>G (p.Asp243Gly)
c.209A>G (p.Asp70Gly)
c.1802A>G (p.Asp601Gly)
c.190+2686A>G (n.190+2686A>G)
14g.21324690A>TCA388866946RPGRIP1c.1835A>T (p.Asp612Val)
c.688+2686A>T (n.688+2686A>T)
n.293A>T
n.767A>T
c.221A>T (p.Asp74Val)
c.297-35A>T
c.177A>T (p.Arg59Ser)
c.260A>T (p.Asp87Val)
c.1681+2686A>T (n.1681+2686A>T)
c.1721A>T (p.Asp574Val)
c.761A>T (p.Asp254Val)
c.728A>T (p.Asp243Val)
c.209A>T (p.Asp70Val)
c.1802A>T (p.Asp601Val)
c.190+2686A>T (n.190+2686A>T)
14g.21324691T>ACA388866948RPGRIP1c.1836T>A (p.Asp612Glu)
c.688+2687T>A (n.688+2687T>A)
n.294T>A
n.768T>A
c.222T>A (p.Asp74Glu)
c.297-34T>A
c.178T>A (p.Ter60Arg)
c.261T>A (p.Asp87Glu)
c.1681+2687T>A (n.1681+2687T>A)
c.1722T>A (p.Asp574Glu)
c.762T>A (p.Asp254Glu)
c.729T>A (p.Asp243Glu)
c.210T>A (p.Asp70Glu)
c.1803T>A (p.Asp601Glu)
c.190+2687T>A (n.190+2687T>A)
14g.21324691T>CCA484986050RPGRIP1c.1836T>C (p.Asp612=)
c.688+2687T>C (n.688+2687T>C)
n.294T>C
n.768T>C
c.222T>C (p.Asp74=)
c.297-34T>C
c.178T>C (p.Ter60Arg)
c.261T>C (p.Asp87=)
c.1681+2687T>C (n.1681+2687T>C)
c.1722T>C (p.Asp574=)
c.762T>C (p.Asp254=)
c.729T>C (p.Asp243=)
c.210T>C (p.Asp70=)
c.1803T>C (p.Asp601=)
c.190+2687T>C (n.190+2687T>C)
14g.21324691T>GCA388866949RPGRIP1c.1836T>G (p.Asp612Glu)
c.688+2687T>G (n.688+2687T>G)
n.294T>G
n.768T>G
c.222T>G (p.Asp74Glu)
c.297-34T>G
c.178T>G (p.Ter60Gly)
c.261T>G (p.Asp87Glu)
c.1681+2687T>G (n.1681+2687T>G)
c.1722T>G (p.Asp574Glu)
c.762T>G (p.Asp254Glu)
c.729T>G (p.Asp243Glu)
c.210T>G (p.Asp70Glu)
c.1803T>G (p.Asp601Glu)
c.190+2687T>G (n.190+2687T>G)
14g.21324692G>ACA388866950RPGRIP1c.1837G>A (p.Glu613Lys)
c.688+2688G>A (n.688+2688G>A)
n.295G>A
n.769G>A
c.223G>A (p.Glu75Lys)
c.297-33G>A
c.179G>A (p.Ter60=)
c.262G>A (p.Glu88Lys)
c.1681+2688G>A (n.1681+2688G>A)
c.1723G>A (p.Glu575Lys)
c.763G>A (p.Glu255Lys)
c.730G>A (p.Glu244Lys)
c.211G>A (p.Glu71Lys)
c.1804G>A (p.Glu602Lys)
c.190+2688G>A (n.190+2688G>A)
14g.21324692G>CCA388866951RPGRIP1c.1837G>C (p.Glu613Gln)
c.688+2688G>C (n.688+2688G>C)
n.295G>C
n.769G>C
c.223G>C (p.Glu75Gln)
c.297-33G>C
c.179G>C (p.Ter60Ser)
c.262G>C (p.Glu88Gln)
c.1681+2688G>C (n.1681+2688G>C)
c.1723G>C (p.Glu575Gln)
c.763G>C (p.Glu255Gln)
c.730G>C (p.Glu244Gln)
c.211G>C (p.Glu71Gln)
c.1804G>C (p.Glu602Gln)
c.190+2688G>C (n.190+2688G>C)
14g.21324692G>TCA388866952RPGRIP1c.1837G>T (p.Glu613Ter)
c.688+2688G>T (n.688+2688G>T)
n.295G>T
n.769G>T
c.223G>T (p.Glu75Ter)
c.297-33G>T
c.179G>T (p.Ter60Leu)
c.262G>T (p.Glu88Ter)
c.1681+2688G>T (n.1681+2688G>T)
c.1723G>T (p.Glu575Ter)
c.763G>T (p.Glu255Ter)
c.730G>T (p.Glu244Ter)
c.211G>T (p.Glu71Ter)
c.1804G>T (p.Glu602Ter)
c.190+2688G>T (n.190+2688G>T)
14g.21324693A>CCA388866953RPGRIP1c.1838A>C (p.Glu613Ala)
c.688+2689A>C (n.688+2689A>C)
n.296A>C
n.770A>C
c.224A>C (p.Glu75Ala)
c.297-32A>C
c.180A>C (p.Ter60Cys)
c.263A>C (p.Glu88Ala)
c.1681+2689A>C (n.1681+2689A>C)
c.1724A>C (p.Glu575Ala)
c.764A>C (p.Glu255Ala)
c.731A>C (p.Glu244Ala)
c.212A>C (p.Glu71Ala)
c.1805A>C (p.Glu602Ala)
c.190+2689A>C (n.190+2689A>C)
14g.21324693A>GCA388866954RPGRIP1c.1838A>G (p.Glu613Gly)
c.688+2689A>G (n.688+2689A>G)
n.296A>G
n.770A>G
c.224A>G (p.Glu75Gly)
c.297-32A>G
c.180A>G (p.Ter60Trp)
c.263A>G (p.Glu88Gly)
c.1681+2689A>G (n.1681+2689A>G)
c.1724A>G (p.Glu575Gly)
c.764A>G (p.Glu255Gly)
c.731A>G (p.Glu244Gly)
c.212A>G (p.Glu71Gly)
c.1805A>G (p.Glu602Gly)
c.190+2689A>G (n.190+2689A>G)
14g.21324693A>TCA388866955RPGRIP1c.1838A>T (p.Glu613Val)
c.688+2689A>T (n.688+2689A>T)
n.296A>T
n.770A>T
c.224A>T (p.Glu75Val)
c.297-32A>T
c.180A>T (p.Ter60Cys)
c.263A>T (p.Glu88Val)
c.1681+2689A>T (n.1681+2689A>T)
c.1724A>T (p.Glu575Val)
c.764A>T (p.Glu255Val)
c.731A>T (p.Glu244Val)
c.212A>T (p.Glu71Val)
c.1805A>T (p.Glu602Val)
c.190+2689A>T (n.190+2689A>T)
14g.21324694G>ACA484986051RPGRIP1c.1839G>A (p.Glu613=)
c.688+2690G>A (n.688+2690G>A)
n.297G>A
n.771G>A
c.225G>A (p.Glu75=)
c.297-31G>A
c.181G>A (n.181G>A)
c.264G>A (p.Glu88=)
c.1681+2690G>A (n.1681+2690G>A)
c.1725G>A (p.Glu575=)
c.765G>A (p.Glu255=)
c.732G>A (p.Glu244=)
c.213G>A (p.Glu71=)
c.1806G>A (p.Glu602=)
c.190+2690G>A (n.190+2690G>A)
 dbSNP
14g.21324694G>CCA388866956RPGRIP1c.1839G>C (p.Glu613Asp)
c.688+2690G>C (n.688+2690G>C)
n.297G>C
n.771G>C
c.225G>C (p.Glu75Asp)
c.297-31G>C
c.181G>C (n.181G>C)
c.264G>C (p.Glu88Asp)
c.1681+2690G>C (n.1681+2690G>C)
c.1725G>C (p.Glu575Asp)
c.765G>C (p.Glu255Asp)
c.732G>C (p.Glu244Asp)
c.213G>C (p.Glu71Asp)
c.1806G>C (p.Glu602Asp)
c.190+2690G>C (n.190+2690G>C)
14g.21324694G=CA2122460053RPGRIP1c.1839G= (p.Glu613=)
c.688+2690G= (n.688+2690G=)
n.297G=
n.771G=
c.225G= (p.Glu75=)
c.297-31G=
c.181G= (n.181G=)
c.264G= (p.Glu88=)
c.1681+2690G= (n.1681+2690G=)
c.1725G= (p.Glu575=)
c.765G= (p.Glu255=)
c.732G= (p.Glu244=)
c.213G= (p.Glu71=)
c.1806G= (p.Glu602=)
c.190+2690G= (n.190+2690G=)
14g.21324694G>TCA388866957RPGRIP1c.1839G>T (p.Glu613Asp)
c.688+2690G>T (n.688+2690G>T)
n.297G>T
n.771G>T
c.225G>T (p.Glu75Asp)
c.297-31G>T
c.181G>T (n.181G>T)
c.264G>T (p.Glu88Asp)
c.1681+2690G>T (n.1681+2690G>T)
c.1725G>T (p.Glu575Asp)
c.765G>T (p.Glu255Asp)
c.732G>T (p.Glu244Asp)
c.213G>T (p.Glu71Asp)
c.1806G>T (p.Glu602Asp)
c.190+2690G>T (n.190+2690G>T)
14g.21324695G>ACA388866958RPGRIP1c.1840G>A (p.Asp614Asn)
c.688+2691G>A (n.688+2691G>A)
n.298G>A
n.772G>A
c.226G>A (p.Asp76Asn)
c.297-30G>A
c.182G>A (n.182G>A)
c.265G>A (p.Asp89Asn)
c.1681+2691G>A (n.1681+2691G>A)
c.1726G>A (p.Asp576Asn)
c.766G>A (p.Asp256Asn)
c.733G>A (p.Asp245Asn)
c.214G>A (p.Asp72Asn)
c.1807G>A (p.Asp603Asn)
c.190+2691G>A (n.190+2691G>A)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
14g.21324695G>CCA388866959RPGRIP1c.1840G>C (p.Asp614His)
c.688+2691G>C (n.688+2691G>C)
n.298G>C
n.772G>C
c.226G>C (p.Asp76His)
c.297-30G>C
c.182G>C (n.182G>C)
c.265G>C (p.Asp89His)
c.1681+2691G>C (n.1681+2691G>C)
c.1726G>C (p.Asp576His)
c.766G>C (p.Asp256His)
c.733G>C (p.Asp245His)
c.214G>C (p.Asp72His)
c.1807G>C (p.Asp603His)
c.190+2691G>C (n.190+2691G>C)
14g.21324695G=CA2122460060RPGRIP1c.1840G= (p.Asp614=)
c.688+2691G= (n.688+2691G=)
n.298G=
n.772G=
c.226G= (p.Asp76=)
c.297-30G=
c.182G= (n.182G=)
c.265G= (p.Asp89=)
c.1681+2691G= (n.1681+2691G=)
c.1726G= (p.Asp576=)
c.766G= (p.Asp256=)
c.733G= (p.Asp245=)
c.214G= (p.Asp72=)
c.1807G= (p.Asp603=)
c.190+2691G= (n.190+2691G=)
14g.21324695G>TCA388866960RPGRIP1c.1840G>T (p.Asp614Tyr)
c.688+2691G>T (n.688+2691G>T)
n.298G>T
n.772G>T
c.226G>T (p.Asp76Tyr)
c.297-30G>T
c.182G>T (n.182G>T)
c.265G>T (p.Asp89Tyr)
c.1681+2691G>T (n.1681+2691G>T)
c.1726G>T (p.Asp576Tyr)
c.766G>T (p.Asp256Tyr)
c.733G>T (p.Asp245Tyr)
c.214G>T (p.Asp72Tyr)
c.1807G>T (p.Asp603Tyr)
c.190+2691G>T (n.190+2691G>T)
14g.21324696A>CCA388866963RPGRIP1c.1841A>C (p.Asp614Ala)
c.688+2692A>C (n.688+2692A>C)
n.299A>C
n.773A>C
c.227A>C (p.Asp76Ala)
c.297-29A>C
c.183A>C (n.183A>C)
c.266A>C (p.Asp89Ala)
c.1681+2692A>C (n.1681+2692A>C)
c.1727A>C (p.Asp576Ala)
c.767A>C (p.Asp256Ala)
c.734A>C (p.Asp245Ala)
c.215A>C (p.Asp72Ala)
c.1808A>C (p.Asp603Ala)
c.190+2692A>C (n.190+2692A>C)
14g.21324696A>GCA388866962RPGRIP1c.1841A>G (p.Asp614Gly)
c.688+2692A>G (n.688+2692A>G)
n.299A>G
n.773A>G
c.227A>G (p.Asp76Gly)
c.297-29A>G
c.183A>G (n.183A>G)
c.266A>G (p.Asp89Gly)
c.1681+2692A>G (n.1681+2692A>G)
c.1727A>G (p.Asp576Gly)
c.767A>G (p.Asp256Gly)
c.734A>G (p.Asp245Gly)
c.215A>G (p.Asp72Gly)
c.1808A>G (p.Asp603Gly)
c.190+2692A>G (n.190+2692A>G)
14g.21324696A>TCA388866961RPGRIP1c.1841A>T (p.Asp614Val)
c.688+2692A>T (n.688+2692A>T)
n.299A>T
n.773A>T
c.227A>T (p.Asp76Val)
c.297-29A>T
c.183A>T (n.183A>T)
c.266A>T (p.Asp89Val)
c.1681+2692A>T (n.1681+2692A>T)
c.1727A>T (p.Asp576Val)
c.767A>T (p.Asp256Val)
c.734A>T (p.Asp245Val)
c.215A>T (p.Asp72Val)
c.1808A>T (p.Asp603Val)
c.190+2692A>T (n.190+2692A>T)
14g.21324697T>ACA388866964RPGRIP1c.1842T>A (p.Asp614Glu)
c.688+2693T>A (n.688+2693T>A)
n.300T>A
n.774T>A
c.228T>A (p.Asp76Glu)
c.297-28T>A
c.184T>A (n.184T>A)
c.267T>A (p.Asp89Glu)
c.1681+2693T>A (n.1681+2693T>A)
c.1728T>A (p.Asp576Glu)
c.768T>A (p.Asp256Glu)
c.735T>A (p.Asp245Glu)
c.216T>A (p.Asp72Glu)
c.1809T>A (p.Asp603Glu)
c.190+2693T>A (n.190+2693T>A)
14g.21324697T>CCA484986052RPGRIP1c.1842T>C (p.Asp614=)
c.688+2693T>C (n.688+2693T>C)
n.300T>C
n.774T>C
c.228T>C (p.Asp76=)
c.297-28T>C
c.184T>C (n.184T>C)
c.267T>C (p.Asp89=)
c.1681+2693T>C (n.1681+2693T>C)
c.1728T>C (p.Asp576=)
c.768T>C (p.Asp256=)
c.735T>C (p.Asp245=)
c.216T>C (p.Asp72=)
c.1809T>C (p.Asp603=)
c.190+2693T>C (n.190+2693T>C)
14g.21324697T>GCA388866966RPGRIP1c.1842T>G (p.Asp614Glu)
c.688+2693T>G (n.688+2693T>G)
n.300T>G
n.774T>G
c.228T>G (p.Asp76Glu)
c.297-28T>G
c.184T>G (n.184T>G)
c.267T>G (p.Asp89Glu)
c.1681+2693T>G (n.1681+2693T>G)
c.1728T>G (p.Asp576Glu)
c.768T>G (p.Asp256Glu)
c.735T>G (p.Asp245Glu)
c.216T>G (p.Asp72Glu)
c.1809T>G (p.Asp603Glu)
c.190+2693T>G (n.190+2693T>G)
14g.21324698A=CA2122460065RPGRIP1c.1843A= (p.Lys615=)
c.688+2694A= (n.688+2694A=)
n.301A=
n.775A=
c.229A= (p.Lys77=)
c.297-27A=
c.185A= (n.185A=)
c.268A= (p.Lys90=)
c.1681+2694A= (n.1681+2694A=)
c.1729A= (p.Lys577=)
c.769A= (p.Lys257=)
c.736A= (p.Lys246=)
c.217A= (p.Lys73=)
c.1810A= (p.Lys604=)
c.190+2694A= (n.190+2694A=)
14g.21324698A>CCA388866967RPGRIP1c.1843A>C (p.Lys615Gln)
c.688+2694A>C (n.688+2694A>C)
n.301A>C
n.775A>C
c.229A>C (p.Lys77Gln)
c.297-27A>C
c.185A>C (n.185A>C)
c.268A>C (p.Lys90Gln)
c.1681+2694A>C (n.1681+2694A>C)
c.1729A>C (p.Lys577Gln)
c.769A>C (p.Lys257Gln)
c.736A>C (p.Lys246Gln)
c.217A>C (p.Lys73Gln)
c.1810A>C (p.Lys604Gln)
c.190+2694A>C (n.190+2694A>C)
14g.21324698A>GCA388866968RPGRIP1c.1843A>G (p.Lys615Glu)
c.688+2694A>G (n.688+2694A>G)
n.301A>G
n.775A>G
c.229A>G (p.Lys77Glu)
c.297-27A>G
c.185A>G (n.185A>G)
c.268A>G (p.Lys90Glu)
c.1681+2694A>G (n.1681+2694A>G)
c.1729A>G (p.Lys577Glu)
c.769A>G (p.Lys257Glu)
c.736A>G (p.Lys246Glu)
c.217A>G (p.Lys73Glu)
c.1810A>G (p.Lys604Glu)
c.190+2694A>G (n.190+2694A>G)
 dbSNP gnomAD v2 gnomAD v4
14g.21324698A>TCA388866969RPGRIP1c.1843A>T (p.Lys615Ter)
c.688+2694A>T (n.688+2694A>T)
n.301A>T
n.775A>T
c.229A>T (p.Lys77Ter)
c.297-27A>T
c.185A>T (n.185A>T)
c.268A>T (p.Lys90Ter)
c.1681+2694A>T (n.1681+2694A>T)
c.1729A>T (p.Lys577Ter)
c.769A>T (p.Lys257Ter)
c.736A>T (p.Lys246Ter)
c.217A>T (p.Lys73Ter)
c.1810A>T (p.Lys604Ter)
c.190+2694A>T (n.190+2694A>T)
14g.21324699A>CCA388866971RPGRIP1c.1844A>C (p.Lys615Thr)
c.688+2695A>C (n.688+2695A>C)
n.302A>C
n.776A>C
c.230A>C (p.Lys77Thr)
c.297-26A>C
c.186A>C (n.186A>C)
c.269A>C (p.Lys90Thr)
c.1681+2695A>C (n.1681+2695A>C)
c.1730A>C (p.Lys577Thr)
c.770A>C (p.Lys257Thr)
c.737A>C (p.Lys246Thr)
c.218A>C (p.Lys73Thr)
c.1811A>C (p.Lys604Thr)
c.190+2695A>C (n.190+2695A>C)
14g.21324699A>GCA388866973RPGRIP1c.1844A>G (p.Lys615Arg)
c.688+2695A>G (n.688+2695A>G)
n.302A>G
n.776A>G
c.230A>G (p.Lys77Arg)
c.297-26A>G
c.186A>G (n.186A>G)
c.269A>G (p.Lys90Arg)
c.1681+2695A>G (n.1681+2695A>G)
c.1730A>G (p.Lys577Arg)
c.770A>G (p.Lys257Arg)
c.737A>G (p.Lys246Arg)
c.218A>G (p.Lys73Arg)
c.1811A>G (p.Lys604Arg)
c.190+2695A>G (n.190+2695A>G)
14g.21324699A>TCA388866975RPGRIP1c.1844A>T (p.Lys615Ile)
c.688+2695A>T (n.688+2695A>T)
n.302A>T
n.776A>T
c.230A>T (p.Lys77Ile)
c.297-26A>T
c.186A>T (n.186A>T)
c.269A>T (p.Lys90Ile)
c.1681+2695A>T (n.1681+2695A>T)
c.1730A>T (p.Lys577Ile)
c.770A>T (p.Lys257Ile)
c.737A>T (p.Lys246Ile)
c.218A>T (p.Lys73Ile)
c.1811A>T (p.Lys604Ile)
c.190+2695A>T (n.190+2695A>T)
14g.21324700A>CCA388866977RPGRIP1c.1845A>C (p.Lys615Asn)
c.688+2696A>C (n.688+2696A>C)
n.303A>C
n.777A>C
c.231A>C (p.Lys77Asn)
c.297-25A>C
c.187A>C (n.187A>C)
c.270A>C (p.Lys90Asn)
c.1681+2696A>C (n.1681+2696A>C)
c.1731A>C (p.Lys577Asn)
c.771A>C (p.Lys257Asn)
c.738A>C (p.Lys246Asn)
c.219A>C (p.Lys73Asn)
c.1812A>C (p.Lys604Asn)
c.190+2696A>C (n.190+2696A>C)
14g.21324700A>GCA484986198RPGRIP1c.1845A>G (p.Lys615=)
c.688+2696A>G (n.688+2696A>G)
n.303A>G
n.777A>G
c.231A>G (p.Lys77=)
c.297-25A>G
c.187A>G (n.187A>G)
c.270A>G (p.Lys90=)
c.1681+2696A>G (n.1681+2696A>G)
c.1731A>G (p.Lys577=)
c.771A>G (p.Lys257=)
c.738A>G (p.Lys246=)
c.219A>G (p.Lys73=)
c.1812A>G (p.Lys604=)
c.190+2696A>G (n.190+2696A>G)
 gnomAD v4
14g.21324700A>TCA388866979RPGRIP1c.1845A>T (p.Lys615Asn)
c.688+2696A>T (n.688+2696A>T)
n.303A>T
n.777A>T
c.231A>T (p.Lys77Asn)
c.297-25A>T
c.187A>T (n.187A>T)
c.270A>T (p.Lys90Asn)
c.1681+2696A>T (n.1681+2696A>T)
c.1731A>T (p.Lys577Asn)
c.771A>T (p.Lys257Asn)
c.738A>T (p.Lys246Asn)
c.219A>T (p.Lys73Asn)
c.1812A>T (p.Lys604Asn)
c.190+2696A>T (n.190+2696A>T)
14g.21324701G>ACA388866981RPGRIP1c.1846G>A (p.Val616Met)
c.688+2697G>A (n.688+2697G>A)
n.304G>A
n.778G>A
c.232G>A (p.Val78Met)
c.297-24G>A
c.188G>A (n.188G>A)
c.271G>A (p.Val91Met)
c.1681+2697G>A (n.1681+2697G>A)
c.1732G>A (p.Val578Met)
c.772G>A (p.Val258Met)
c.739G>A (p.Val247Met)
c.220G>A (p.Val74Met)
c.1813G>A (p.Val605Met)
c.190+2697G>A (n.190+2697G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.21324701G>CCA388866982RPGRIP1c.1846G>C (p.Val616Leu)
c.688+2697G>C (n.688+2697G>C)
n.304G>C
n.778G>C
c.232G>C (p.Val78Leu)
c.297-24G>C
c.188G>C (n.188G>C)
c.271G>C (p.Val91Leu)
c.1681+2697G>C (n.1681+2697G>C)
c.1732G>C (p.Val578Leu)
c.772G>C (p.Val258Leu)
c.739G>C (p.Val247Leu)
c.220G>C (p.Val74Leu)
c.1813G>C (p.Val605Leu)
c.190+2697G>C (n.190+2697G>C)
14g.21324701G=CA2122460069RPGRIP1c.1846G= (p.Val616=)
c.688+2697G= (n.688+2697G=)
n.304G=
n.778G=
c.232G= (p.Val78=)
c.297-24G=
c.188G= (n.188G=)
c.271G= (p.Val91=)
c.1681+2697G= (n.1681+2697G=)
c.1732G= (p.Val578=)
c.772G= (p.Val258=)
c.739G= (p.Val247=)
c.220G= (p.Val74=)
c.1813G= (p.Val605=)
c.190+2697G= (n.190+2697G=)
14g.21324701G>TCA388866984RPGRIP1c.1846G>T (p.Val616Leu)
c.688+2697G>T (n.688+2697G>T)
n.304G>T
n.778G>T
c.232G>T (p.Val78Leu)
c.297-24G>T
c.188G>T (n.188G>T)
c.271G>T (p.Val91Leu)
c.1681+2697G>T (n.1681+2697G>T)
c.1732G>T (p.Val578Leu)
c.772G>T (p.Val258Leu)
c.739G>T (p.Val247Leu)
c.220G>T (p.Val74Leu)
c.1813G>T (p.Val605Leu)
c.190+2697G>T (n.190+2697G>T)
14g.21324702T>ACA388866988RPGRIP1c.1847T>A (p.Val616Glu)
c.688+2698T>A (n.688+2698T>A)
n.305T>A
n.779T>A
c.233T>A (p.Val78Glu)
c.297-23T>A
c.189T>A (n.189T>A)
c.272T>A (p.Val91Glu)
c.1681+2698T>A (n.1681+2698T>A)
c.1733T>A (p.Val578Glu)
c.773T>A (p.Val258Glu)
c.740T>A (p.Val247Glu)
c.221T>A (p.Val74Glu)
c.1814T>A (p.Val605Glu)
c.190+2698T>A (n.190+2698T>A)
14g.21324702T>CCA388866990RPGRIP1c.1847T>C (p.Val616Ala)
c.688+2698T>C (n.688+2698T>C)
n.305T>C
n.779T>C
c.233T>C (p.Val78Ala)
c.297-23T>C
c.189T>C (n.189T>C)
c.272T>C (p.Val91Ala)
c.1681+2698T>C (n.1681+2698T>C)
c.1733T>C (p.Val578Ala)
c.773T>C (p.Val258Ala)
c.740T>C (p.Val247Ala)
c.221T>C (p.Val74Ala)
c.1814T>C (p.Val605Ala)
c.190+2698T>C (n.190+2698T>C)
 gnomAD v4
14g.21324702T>GCA388866986RPGRIP1c.1847T>G (p.Val616Gly)
c.688+2698T>G (n.688+2698T>G)
n.305T>G
n.779T>G
c.233T>G (p.Val78Gly)
c.297-23T>G
c.189T>G (n.189T>G)
c.272T>G (p.Val91Gly)
c.1681+2698T>G (n.1681+2698T>G)
c.1733T>G (p.Val578Gly)
c.773T>G (p.Val258Gly)
c.740T>G (p.Val247Gly)
c.221T>G (p.Val74Gly)
c.1814T>G (p.Val605Gly)
c.190+2698T>G (n.190+2698T>G)
14g.21324703G>ACA484986205RPGRIP1c.1848G>A (p.Val616=)
c.688+2699G>A (n.688+2699G>A)
n.306G>A
n.780G>A
c.234G>A (p.Val78=)
c.297-22G>A
c.190G>A (n.190G>A)
c.273G>A (p.Val91=)
c.1681+2699G>A (n.1681+2699G>A)
c.1734G>A (p.Val578=)
c.774G>A (p.Val258=)
c.741G>A (p.Val247=)
c.222G>A (p.Val74=)
c.1815G>A (p.Val605=)
c.190+2699G>A (n.190+2699G>A)
 dbSNP gnomAD v2 gnomAD v4
14g.21324703G>CCA484986202RPGRIP1c.1848G>C (p.Val616=)
c.688+2699G>C (n.688+2699G>C)
n.306G>C
n.780G>C
c.234G>C (p.Val78=)
c.297-22G>C
c.190G>C (n.190G>C)
c.273G>C (p.Val91=)
c.1681+2699G>C (n.1681+2699G>C)
c.1734G>C (p.Val578=)
c.774G>C (p.Val258=)
c.741G>C (p.Val247=)
c.222G>C (p.Val74=)
c.1815G>C (p.Val605=)
c.190+2699G>C (n.190+2699G>C)
14g.21324703G=CA2122460073RPGRIP1c.1848G= (p.Val616=)
c.688+2699G= (n.688+2699G=)
n.306G=
n.780G=
c.234G= (p.Val78=)
c.297-22G=
c.190G= (n.190G=)
c.273G= (p.Val91=)
c.1681+2699G= (n.1681+2699G=)
c.1734G= (p.Val578=)
c.774G= (p.Val258=)
c.741G= (p.Val247=)
c.222G= (p.Val74=)
c.1815G= (p.Val605=)
c.190+2699G= (n.190+2699G=)
14g.21324703G>TCA484986203RPGRIP1c.1848G>T (p.Val616=)
c.688+2699G>T (n.688+2699G>T)
n.306G>T
n.780G>T
c.234G>T (p.Val78=)
c.297-22G>T
c.190G>T (n.190G>T)
c.273G>T (p.Val91=)
c.1681+2699G>T (n.1681+2699G>T)
c.1734G>T (p.Val578=)
c.774G>T (p.Val258=)
c.741G>T (p.Val247=)
c.222G>T (p.Val74=)
c.1815G>T (p.Val605=)
c.190+2699G>T (n.190+2699G>T)
14g.21324704G>ACA388866992RPGRIP1c.1849G>A (p.Asp617Asn)
c.688+2700G>A (n.688+2700G>A)
n.307G>A
n.781G>A
c.235G>A (p.Asp79Asn)
c.297-21G>A
c.191G>A (n.191G>A)
c.274G>A (p.Asp92Asn)
c.1681+2700G>A (n.1681+2700G>A)
c.1735G>A (p.Asp579Asn)
c.775G>A (p.Asp259Asn)
c.742G>A (p.Asp248Asn)
c.223G>A (p.Asp75Asn)
c.1816G>A (p.Asp606Asn)
c.190+2700G>A (n.190+2700G>A)
14g.21324704G>CCA388866996RPGRIP1c.1849G>C (p.Asp617His)
c.688+2700G>C (n.688+2700G>C)
n.307G>C
n.781G>C
c.235G>C (p.Asp79His)
c.297-21G>C
c.191G>C (n.191G>C)
c.274G>C (p.Asp92His)
c.1681+2700G>C (n.1681+2700G>C)
c.1735G>C (p.Asp579His)
c.775G>C (p.Asp259His)
c.742G>C (p.Asp248His)
c.223G>C (p.Asp75His)
c.1816G>C (p.Asp606His)
c.190+2700G>C (n.190+2700G>C)
14g.21324704G>TCA388866994RPGRIP1c.1849G>T (p.Asp617Tyr)
c.688+2700G>T (n.688+2700G>T)
n.307G>T
n.781G>T
c.235G>T (p.Asp79Tyr)
c.297-21G>T
c.191G>T (n.191G>T)
c.274G>T (p.Asp92Tyr)
c.1681+2700G>T (n.1681+2700G>T)
c.1735G>T (p.Asp579Tyr)
c.775G>T (p.Asp259Tyr)
c.742G>T (p.Asp248Tyr)
c.223G>T (p.Asp75Tyr)
c.1816G>T (p.Asp606Tyr)
c.190+2700G>T (n.190+2700G>T)
 COSMIC COSMIC COSMIC
14g.21324705A>CCA388866998RPGRIP1c.1850A>C (p.Asp617Ala)
c.688+2701A>C (n.688+2701A>C)
n.308A>C
n.782A>C
c.236A>C (p.Asp79Ala)
c.297-20A>C
c.192A>C (n.192A>C)
c.275A>C (p.Asp92Ala)
c.1681+2701A>C (n.1681+2701A>C)
c.1736A>C (p.Asp579Ala)
c.776A>C (p.Asp259Ala)
c.743A>C (p.Asp248Ala)
c.224A>C (p.Asp75Ala)
c.1817A>C (p.Asp606Ala)
c.190+2701A>C (n.190+2701A>C)
14g.21324705A>GCA388867000RPGRIP1c.1850A>G (p.Asp617Gly)
c.688+2701A>G (n.688+2701A>G)
n.308A>G
n.782A>G
c.236A>G (p.Asp79Gly)
c.297-20A>G
c.192A>G (n.192A>G)
c.275A>G (p.Asp92Gly)
c.1681+2701A>G (n.1681+2701A>G)
c.1736A>G (p.Asp579Gly)
c.776A>G (p.Asp259Gly)
c.743A>G (p.Asp248Gly)
c.224A>G (p.Asp75Gly)
c.1817A>G (p.Asp606Gly)
c.190+2701A>G (n.190+2701A>G)
 gnomAD v4 COSMIC
14g.21324705A>TCA388867002RPGRIP1c.1850A>T (p.Asp617Val)
c.688+2701A>T (n.688+2701A>T)
n.308A>T
n.782A>T
c.236A>T (p.Asp79Val)
c.297-20A>T
c.192A>T (n.192A>T)
c.275A>T (p.Asp92Val)
c.1681+2701A>T (n.1681+2701A>T)
c.1736A>T (p.Asp579Val)
c.776A>T (p.Asp259Val)
c.743A>T (p.Asp248Val)
c.224A>T (p.Asp75Val)
c.1817A>T (p.Asp606Val)
c.190+2701A>T (n.190+2701A>T)
14g.21324706T>ACA388867004RPGRIP1c.1851T>A (p.Asp617Glu)
c.688+2702T>A (n.688+2702T>A)
n.309T>A
n.783T>A
c.237T>A (p.Asp79Glu)
c.297-19T>A
c.193T>A (n.193T>A)
c.276T>A (p.Asp92Glu)
c.1681+2702T>A (n.1681+2702T>A)
c.1737T>A (p.Asp579Glu)
c.777T>A (p.Asp259Glu)
c.744T>A (p.Asp248Glu)
c.225T>A (p.Asp75Glu)
c.1818T>A (p.Asp606Glu)
c.190+2702T>A (n.190+2702T>A)
14g.21324706T>CCA484986207RPGRIP1c.1851T>C (p.Asp617=)
c.688+2702T>C (n.688+2702T>C)
n.309T>C
n.783T>C
c.237T>C (p.Asp79=)
c.297-19T>C
c.193T>C (n.193T>C)
c.276T>C (p.Asp92=)
c.1681+2702T>C (n.1681+2702T>C)
c.1737T>C (p.Asp579=)
c.777T>C (p.Asp259=)
c.744T>C (p.Asp248=)
c.225T>C (p.Asp75=)
c.1818T>C (p.Asp606=)
c.190+2702T>C (n.190+2702T>C)
14g.21324706T>GCA388867005RPGRIP1c.1851T>G (p.Asp617Glu)
c.688+2702T>G (n.688+2702T>G)
n.309T>G
n.783T>G
c.237T>G (p.Asp79Glu)
c.297-19T>G
c.193T>G (n.193T>G)
c.276T>G (p.Asp92Glu)
c.1681+2702T>G (n.1681+2702T>G)
c.1737T>G (p.Asp579Glu)
c.777T>G (p.Asp259Glu)
c.744T>G (p.Asp248Glu)
c.225T>G (p.Asp75Glu)
c.1818T>G (p.Asp606Glu)
c.190+2702T>G (n.190+2702T>G)
14g.21324707A=CA2122460075RPGRIP1c.1852A= (p.Ile618=)
c.688+2703A= (n.688+2703A=)
n.310A=
n.784A=
c.238A= (p.Ile80=)
c.297-18A=
c.194A= (n.194A=)
c.277A= (p.Ile93=)
c.1681+2703A= (n.1681+2703A=)
c.1738A= (p.Ile580=)
c.778A= (p.Ile260=)
c.745A= (p.Ile249=)
c.226A= (p.Ile76=)
c.1819A= (p.Ile607=)
c.190+2703A= (n.190+2703A=)
14g.21324707A>CCA388867008RPGRIP1c.1852A>C (p.Ile618Leu)
c.688+2703A>C (n.688+2703A>C)
n.310A>C
n.784A>C
c.238A>C (p.Ile80Leu)
c.297-18A>C
c.194A>C (n.194A>C)
c.277A>C (p.Ile93Leu)
c.1681+2703A>C (n.1681+2703A>C)
c.1738A>C (p.Ile580Leu)
c.778A>C (p.Ile260Leu)
c.745A>C (p.Ile249Leu)
c.226A>C (p.Ile76Leu)
c.1819A>C (p.Ile607Leu)
c.190+2703A>C (n.190+2703A>C)
 gnomAD v4
14g.21324707A>GCA388867009RPGRIP1c.1852A>G (p.Ile618Val)
c.688+2703A>G (n.688+2703A>G)
n.310A>G
n.784A>G
c.238A>G (p.Ile80Val)
c.297-18A>G
c.194A>G (n.194A>G)
c.277A>G (p.Ile93Val)
c.1681+2703A>G (n.1681+2703A>G)
c.1738A>G (p.Ile580Val)
c.778A>G (p.Ile260Val)
c.745A>G (p.Ile249Val)
c.226A>G (p.Ile76Val)
c.1819A>G (p.Ile607Val)
c.190+2703A>G (n.190+2703A>G)
 dbSNP gnomAD v2 gnomAD v4
14g.21324707A>TCA388867011RPGRIP1c.1852A>T (p.Ile618Phe)
c.688+2703A>T (n.688+2703A>T)
n.310A>T
n.784A>T
c.238A>T (p.Ile80Phe)
c.297-18A>T
c.194A>T (n.194A>T)
c.277A>T (p.Ile93Phe)
c.1681+2703A>T (n.1681+2703A>T)
c.1738A>T (p.Ile580Phe)
c.778A>T (p.Ile260Phe)
c.745A>T (p.Ile249Phe)
c.226A>T (p.Ile76Phe)
c.1819A>T (p.Ile607Phe)
c.190+2703A>T (n.190+2703A>T)
14g.21324708T>ACA388867013RPGRIP1c.1853T>A (p.Ile618Asn)
c.688+2704T>A (n.688+2704T>A)
n.311T>A
n.785T>A
c.239T>A (p.Ile80Asn)
c.297-17T>A
c.195T>A (n.195T>A)
c.278T>A (p.Ile93Asn)
c.1681+2704T>A (n.1681+2704T>A)
c.1739T>A (p.Ile580Asn)
c.779T>A (p.Ile260Asn)
c.746T>A (p.Ile249Asn)
c.227T>A (p.Ile76Asn)
c.1820T>A (p.Ile607Asn)
c.190+2704T>A (n.190+2704T>A)
14g.21324708T>CCA388867015RPGRIP1c.1853T>C (p.Ile618Thr)
c.688+2704T>C (n.688+2704T>C)
n.311T>C
n.785T>C
c.239T>C (p.Ile80Thr)
c.297-17T>C
c.195T>C (n.195T>C)
c.278T>C (p.Ile93Thr)
c.1681+2704T>C (n.1681+2704T>C)
c.1739T>C (p.Ile580Thr)
c.779T>C (p.Ile260Thr)
c.746T>C (p.Ile249Thr)
c.227T>C (p.Ile76Thr)
c.1820T>C (p.Ile607Thr)
c.190+2704T>C (n.190+2704T>C)
14g.21324708T>GCA388867017RPGRIP1c.1853T>G (p.Ile618Ser)
c.688+2704T>G (n.688+2704T>G)
n.311T>G
n.785T>G
c.239T>G (p.Ile80Ser)
c.297-17T>G
c.195T>G (n.195T>G)
c.278T>G (p.Ile93Ser)
c.1681+2704T>G (n.1681+2704T>G)
c.1739T>G (p.Ile580Ser)
c.779T>G (p.Ile260Ser)
c.746T>G (p.Ile249Ser)
c.227T>G (p.Ile76Ser)
c.1820T>G (p.Ile607Ser)
c.190+2704T>G (n.190+2704T>G)
14g.21324709T>ACA484986210RPGRIP1c.1854T>A (p.Ile618=)
c.688+2705T>A (n.688+2705T>A)
n.312T>A
n.786T>A
c.240T>A (p.Ile80=)
c.297-16T>A
c.196T>A (n.196T>A)
c.279T>A (p.Ile93=)
c.1681+2705T>A (n.1681+2705T>A)
c.1740T>A (p.Ile580=)
c.780T>A (p.Ile260=)
c.747T>A (p.Ile249=)
c.228T>A (p.Ile76=)
c.1821T>A (p.Ile607=)
c.190+2705T>A (n.190+2705T>A)
14g.21324709T>CCA484986212RPGRIP1c.1854T>C (p.Ile618=)
c.688+2705T>C (n.688+2705T>C)
n.312T>C
n.786T>C
c.240T>C (p.Ile80=)
c.297-16T>C
c.196T>C (n.196T>C)
c.279T>C (p.Ile93=)
c.1681+2705T>C (n.1681+2705T>C)
c.1740T>C (p.Ile580=)
c.780T>C (p.Ile260=)
c.747T>C (p.Ile249=)
c.228T>C (p.Ile76=)
c.1821T>C (p.Ile607=)
c.190+2705T>C (n.190+2705T>C)
14g.21324709T>GCA388867019RPGRIP1c.1854T>G (p.Ile618Met)
c.688+2705T>G (n.688+2705T>G)
n.312T>G
n.786T>G
c.240T>G (p.Ile80Met)
c.297-16T>G
c.196T>G (n.196T>G)
c.279T>G (p.Ile93Met)
c.1681+2705T>G (n.1681+2705T>G)
c.1740T>G (p.Ile580Met)
c.780T>G (p.Ile260Met)
c.747T>G (p.Ile249Met)
c.228T>G (p.Ile76Met)
c.1821T>G (p.Ile607Met)
c.190+2705T>G (n.190+2705T>G)
14g.21324710T>ACA388867024RPGRIP1c.1855T>A (p.Ser619Thr)
c.688+2706T>A (n.688+2706T>A)
n.313T>A
n.787T>A
c.241T>A (p.Ser81Thr)
c.297-15T>A
c.197T>A (n.197T>A)
c.280T>A (p.Ser94Thr)
c.1681+2706T>A (n.1681+2706T>A)
c.1741T>A (p.Ser581Thr)
c.781T>A (p.Ser261Thr)
c.748T>A (p.Ser250Thr)
c.229T>A (p.Ser77Thr)
c.1822T>A (p.Ser608Thr)
c.190+2706T>A (n.190+2706T>A)
14g.21324710T>CCA388867021RPGRIP1c.1855T>C (p.Ser619Pro)
c.688+2706T>C (n.688+2706T>C)
n.313T>C
n.787T>C
c.241T>C (p.Ser81Pro)
c.297-15T>C
c.197T>C (n.197T>C)
c.280T>C (p.Ser94Pro)
c.1681+2706T>C (n.1681+2706T>C)
c.1741T>C (p.Ser581Pro)
c.781T>C (p.Ser261Pro)
c.748T>C (p.Ser250Pro)
c.229T>C (p.Ser77Pro)
c.1822T>C (p.Ser608Pro)
c.190+2706T>C (n.190+2706T>C)
14g.21324710T>GCA388867022RPGRIP1c.1855T>G (p.Ser619Ala)
c.688+2706T>G (n.688+2706T>G)
n.313T>G
n.787T>G
c.241T>G (p.Ser81Ala)
c.297-15T>G
c.197T>G (n.197T>G)
c.280T>G (p.Ser94Ala)
c.1681+2706T>G (n.1681+2706T>G)
c.1741T>G (p.Ser581Ala)
c.781T>G (p.Ser261Ala)
c.748T>G (p.Ser250Ala)
c.229T>G (p.Ser77Ala)
c.1822T>G (p.Ser608Ala)
c.190+2706T>G (n.190+2706T>G)
14g.21324711C>ACA388867026RPGRIP1c.1856C>A (p.Ser619Tyr)
c.688+2707C>A (n.688+2707C>A)
n.314C>A
n.788C>A
c.242C>A (p.Ser81Tyr)
c.297-14C>A
c.198C>A (n.198C>A)
c.281C>A (p.Ser94Tyr)
c.1681+2707C>A (n.1681+2707C>A)
c.1742C>A (p.Ser581Tyr)
c.782C>A (p.Ser261Tyr)
c.749C>A (p.Ser250Tyr)
c.230C>A (p.Ser77Tyr)
c.1823C>A (p.Ser608Tyr)
c.190+2707C>A (n.190+2707C>A)
 COSMIC COSMIC COSMIC
14g.21324711C=CA2122460078RPGRIP1c.1856C= (p.Ser619=)
c.688+2707C= (n.688+2707C=)
n.314C=
n.788C=
c.242C= (p.Ser81=)
c.297-14C=
c.198C= (n.198C=)
c.281C= (p.Ser94=)
c.1681+2707C= (n.1681+2707C=)
c.1742C= (p.Ser581=)
c.782C= (p.Ser261=)
c.749C= (p.Ser250=)
c.230C= (p.Ser77=)
c.1823C= (p.Ser608=)
c.190+2707C= (n.190+2707C=)
14g.21324711C>GCA388867028RPGRIP1c.1856C>G (p.Ser619Cys)
c.688+2707C>G (n.688+2707C>G)
n.314C>G
n.788C>G
c.242C>G (p.Ser81Cys)
c.297-14C>G
c.198C>G (n.198C>G)
c.281C>G (p.Ser94Cys)
c.1681+2707C>G (n.1681+2707C>G)
c.1742C>G (p.Ser581Cys)
c.782C>G (p.Ser261Cys)
c.749C>G (p.Ser250Cys)
c.230C>G (p.Ser77Cys)
c.1823C>G (p.Ser608Cys)
c.190+2707C>G (n.190+2707C>G)
14g.21324711C>TCA7089108RPGRIP1c.1856C>T (p.Ser619Phe)
c.688+2707C>T (n.688+2707C>T)
n.314C>T
n.788C>T
c.242C>T (p.Ser81Phe)
c.297-14C>T
c.198C>T (n.198C>T)
c.281C>T (p.Ser94Phe)
c.1681+2707C>T (n.1681+2707C>T)
c.1742C>T (p.Ser581Phe)
c.782C>T (p.Ser261Phe)
c.749C>T (p.Ser250Phe)
c.230C>T (p.Ser77Phe)
c.1823C>T (p.Ser608Phe)
c.190+2707C>T (n.190+2707C>T)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
14g.21324712T>ACA484986218RPGRIP1c.1857T>A (p.Ser619=)
c.688+2708T>A (n.688+2708T>A)
n.315T>A
n.789T>A
c.243T>A (p.Ser81=)
c.297-13T>A
c.199T>A (n.199T>A)
c.282T>A (p.Ser94=)
c.1681+2708T>A (n.1681+2708T>A)
c.1743T>A (p.Ser581=)
c.783T>A (p.Ser261=)
c.750T>A (p.Ser250=)
c.231T>A (p.Ser77=)
c.1824T>A (p.Ser608=)
c.190+2708T>A (n.190+2708T>A)
14g.21324712T>CCA484986219RPGRIP1c.1857T>C (p.Ser619=)
c.688+2708T>C (n.688+2708T>C)
n.315T>C
n.789T>C
c.243T>C (p.Ser81=)
c.297-13T>C
c.199T>C (n.199T>C)
c.282T>C (p.Ser94=)
c.1681+2708T>C (n.1681+2708T>C)
c.1743T>C (p.Ser581=)
c.783T>C (p.Ser261=)
c.750T>C (p.Ser250=)
c.231T>C (p.Ser77=)
c.1824T>C (p.Ser608=)
c.190+2708T>C (n.190+2708T>C)
 dbSNP
14g.21324712T>GCA484986221RPGRIP1c.1857T>G (p.Ser619=)
c.688+2708T>G (n.688+2708T>G)
n.315T>G
n.789T>G
c.243T>G (p.Ser81=)
c.297-13T>G
c.199T>G (n.199T>G)
c.282T>G (p.Ser94=)
c.1681+2708T>G (n.1681+2708T>G)
c.1743T>G (p.Ser581=)
c.783T>G (p.Ser261=)
c.750T>G (p.Ser250=)
c.231T>G (p.Ser77=)
c.1824T>G (p.Ser608=)
c.190+2708T>G (n.190+2708T>G)
14g.21324712T=CA2122460083RPGRIP1c.1857T= (p.Ser619=)
c.688+2708T= (n.688+2708T=)
n.315T=
n.789T=
c.243T= (p.Ser81=)
c.297-13T=
c.199T= (n.199T=)
c.282T= (p.Ser94=)
c.1681+2708T= (n.1681+2708T=)
c.1743T= (p.Ser581=)
c.783T= (p.Ser261=)
c.750T= (p.Ser250=)
c.231T= (p.Ser77=)
c.1824T= (p.Ser608=)
c.190+2708T= (n.190+2708T=)
14g.21324713C>ACA388867030RPGRIP1c.1858C>A (p.Leu620Met)
c.688+2709C>A (n.688+2709C>A)
n.316C>A
n.790C>A
c.244C>A (p.Leu82Met)
c.297-12C>A
c.200C>A (n.200C>A)
c.283C>A (p.Leu95Met)
c.1681+2709C>A (n.1681+2709C>A)
c.1744C>A (p.Leu582Met)
c.784C>A (p.Leu262Met)
c.751C>A (p.Leu251Met)
c.232C>A (p.Leu78Met)
c.1825C>A (p.Leu609Met)
c.190+2709C>A (n.190+2709C>A)
14g.21324713C=CA2122460087RPGRIP1c.1858C= (p.Leu620=)
c.688+2709C= (n.688+2709C=)
n.316C=
n.790C=
c.244C= (p.Leu82=)
c.297-12C=
c.200C= (n.200C=)
c.283C= (p.Leu95=)
c.1681+2709C= (n.1681+2709C=)
c.1744C= (p.Leu582=)
c.784C= (p.Leu262=)
c.751C= (p.Leu251=)
c.232C= (p.Leu78=)
c.1825C= (p.Leu609=)
c.190+2709C= (n.190+2709C=)
14g.21324713C>GCA388867032RPGRIP1c.1858C>G (p.Leu620Val)
c.688+2709C>G (n.688+2709C>G)
n.316C>G
n.790C>G
c.244C>G (p.Leu82Val)
c.297-12C>G
c.200C>G (n.200C>G)
c.283C>G (p.Leu95Val)
c.1681+2709C>G (n.1681+2709C>G)
c.1744C>G (p.Leu582Val)
c.784C>G (p.Leu262Val)
c.751C>G (p.Leu251Val)
c.232C>G (p.Leu78Val)
c.1825C>G (p.Leu609Val)
c.190+2709C>G (n.190+2709C>G)
 COSMIC COSMIC COSMIC
14g.21324713C>TCA257536059RPGRIP1c.1858C>T (p.Leu620=)
c.688+2709C>T (n.688+2709C>T)
n.316C>T
n.790C>T
c.244C>T (p.Leu82=)
c.297-12C>T
c.200C>T (n.200C>T)
c.283C>T (p.Leu95=)
c.1681+2709C>T (n.1681+2709C>T)
c.1744C>T (p.Leu582=)
c.784C>T (p.Leu262=)
c.751C>T (p.Leu251=)
c.232C>T (p.Leu78=)
c.1825C>T (p.Leu609=)
c.190+2709C>T (n.190+2709C>T)
 ClinVar dbSNP
14g.21324714T>ACA388867034RPGRIP1c.1859T>A (p.Leu620Gln)
c.688+2710T>A (n.688+2710T>A)
n.317T>A
n.791T>A
c.245T>A (p.Leu82Gln)
c.297-11T>A
c.201T>A (n.201T>A)
c.284T>A (p.Leu95Gln)
c.1681+2710T>A (n.1681+2710T>A)
c.1745T>A (p.Leu582Gln)
c.785T>A (p.Leu262Gln)
c.752T>A (p.Leu251Gln)
c.233T>A (p.Leu78Gln)
c.1826T>A (p.Leu609Gln)
c.190+2710T>A (n.190+2710T>A)
14g.21324714T>CCA388867037RPGRIP1c.1859T>C (p.Leu620Pro)
c.688+2710T>C (n.688+2710T>C)
n.317T>C
n.791T>C
c.245T>C (p.Leu82Pro)
c.297-11T>C
c.201T>C (n.201T>C)
c.284T>C (p.Leu95Pro)
c.1681+2710T>C (n.1681+2710T>C)
c.1745T>C (p.Leu582Pro)
c.785T>C (p.Leu262Pro)
c.752T>C (p.Leu251Pro)
c.233T>C (p.Leu78Pro)
c.1826T>C (p.Leu609Pro)
c.190+2710T>C (n.190+2710T>C)
14g.21324714T>GCA388867039RPGRIP1c.1859T>G (p.Leu620Arg)
c.688+2710T>G (n.688+2710T>G)
n.317T>G
n.791T>G
c.245T>G (p.Leu82Arg)
c.297-11T>G
c.201T>G (n.201T>G)
c.284T>G (p.Leu95Arg)
c.1681+2710T>G (n.1681+2710T>G)
c.1745T>G (p.Leu582Arg)
c.785T>G (p.Leu262Arg)
c.752T>G (p.Leu251Arg)
c.233T>G (p.Leu78Arg)
c.1826T>G (p.Leu609Arg)
c.190+2710T>G (n.190+2710T>G)
14g.21324715G>ACA484986224RPGRIP1c.1860G>A (p.Leu620=)
c.688+2711G>A (n.688+2711G>A)
n.318G>A
n.792G>A
c.246G>A (p.Leu82=)
c.297-10G>A
c.202G>A (n.202G>A)
c.285G>A (p.Leu95=)
c.1681+2711G>A (n.1681+2711G>A)
c.1746G>A (p.Leu582=)
c.786G>A (p.Leu262=)
c.753G>A (p.Leu251=)
c.234G>A (p.Leu78=)
c.1827G>A (p.Leu609=)
c.190+2711G>A (n.190+2711G>A)
14g.21324715G>CCA484986222RPGRIP1c.1860G>C (p.Leu620=)
c.688+2711G>C (n.688+2711G>C)
n.318G>C
n.792G>C
c.246G>C (p.Leu82=)
c.297-10G>C
c.202G>C (n.202G>C)
c.285G>C (p.Leu95=)
c.1681+2711G>C (n.1681+2711G>C)
c.1746G>C (p.Leu582=)
c.786G>C (p.Leu262=)
c.753G>C (p.Leu251=)
c.234G>C (p.Leu78=)
c.1827G>C (p.Leu609=)
c.190+2711G>C (n.190+2711G>C)
14g.21324715G>TCA484986223RPGRIP1c.1860G>T (p.Leu620=)
c.688+2711G>T (n.688+2711G>T)
n.318G>T
n.792G>T
c.246G>T (p.Leu82=)
c.297-10G>T
c.202G>T (n.202G>T)
c.285G>T (p.Leu95=)
c.1681+2711G>T (n.1681+2711G>T)
c.1746G>T (p.Leu582=)
c.786G>T (p.Leu262=)
c.753G>T (p.Leu251=)
c.234G>T (p.Leu78=)
c.1827G>T (p.Leu609=)
c.190+2711G>T (n.190+2711G>T)
14g.21324716C>ACA388867041RPGRIP1c.1861C>A (p.Leu621Met)
c.688+2712C>A (n.688+2712C>A)
n.319C>A
n.793C>A
c.247C>A (p.Leu83Met)
c.297-9C>A
c.203C>A (n.203C>A)
c.286C>A (p.Leu96Met)
c.1681+2712C>A (n.1681+2712C>A)
c.1747C>A (p.Leu583Met)
c.787C>A (p.Leu263Met)
c.754C>A (p.Leu252Met)
c.235C>A (p.Leu79Met)
c.1828C>A (p.Leu610Met)
c.190+2712C>A (n.190+2712C>A)
 dbSNP gnomAD v4
14g.21324716C=CA2122460091RPGRIP1c.1861C= (p.Leu621=)
c.688+2712C= (n.688+2712C=)
n.319C=
n.793C=
c.247C= (p.Leu83=)
c.297-9C=
c.203C= (n.203C=)
c.286C= (p.Leu96=)
c.1681+2712C= (n.1681+2712C=)
c.1747C= (p.Leu583=)
c.787C= (p.Leu263=)
c.754C= (p.Leu252=)
c.235C= (p.Leu79=)
c.1828C= (p.Leu610=)
c.190+2712C= (n.190+2712C=)
14g.21324716C>GCA388867042RPGRIP1c.1861C>G (p.Leu621Val)
c.688+2712C>G (n.688+2712C>G)
n.319C>G
n.793C>G
c.247C>G (p.Leu83Val)
c.297-9C>G
c.203C>G (n.203C>G)
c.286C>G (p.Leu96Val)
c.1681+2712C>G (n.1681+2712C>G)
c.1747C>G (p.Leu583Val)
c.787C>G (p.Leu263Val)
c.754C>G (p.Leu252Val)
c.235C>G (p.Leu79Val)
c.1828C>G (p.Leu610Val)
c.190+2712C>G (n.190+2712C>G)
14g.21324716C>TCA484986225RPGRIP1c.1861C>T (p.Leu621=)
c.688+2712C>T (n.688+2712C>T)
n.319C>T
n.793C>T
c.247C>T (p.Leu83=)
c.297-9C>T
c.203C>T (n.203C>T)
c.286C>T (p.Leu96=)
c.1681+2712C>T (n.1681+2712C>T)
c.1747C>T (p.Leu583=)
c.787C>T (p.Leu263=)
c.754C>T (p.Leu252=)
c.235C>T (p.Leu79=)
c.1828C>T (p.Leu610=)
c.190+2712C>T (n.190+2712C>T)
14g.21324717T>ACA388867047RPGRIP1c.1862T>A (p.Leu621Gln)
c.688+2713T>A (n.688+2713T>A)
n.320T>A
n.794T>A
c.248T>A (p.Leu83Gln)
c.297-8T>A
c.204T>A (n.204T>A)
c.287T>A (p.Leu96Gln)
c.1681+2713T>A (n.1681+2713T>A)
c.1748T>A (p.Leu583Gln)
c.788T>A (p.Leu263Gln)
c.755T>A (p.Leu252Gln)
c.236T>A (p.Leu79Gln)
c.1829T>A (p.Leu610Gln)
c.190+2713T>A (n.190+2713T>A)
14g.21324717T>CCA388867046RPGRIP1c.1862T>C (p.Leu621Pro)
c.688+2713T>C (n.688+2713T>C)
n.320T>C
n.794T>C
c.248T>C (p.Leu83Pro)
c.297-8T>C
c.204T>C (n.204T>C)
c.287T>C (p.Leu96Pro)
c.1681+2713T>C (n.1681+2713T>C)
c.1748T>C (p.Leu583Pro)
c.788T>C (p.Leu263Pro)
c.755T>C (p.Leu252Pro)
c.236T>C (p.Leu79Pro)
c.1829T>C (p.Leu610Pro)
c.190+2713T>C (n.190+2713T>C)
14g.21324717T>GCA388867044RPGRIP1c.1862T>G (p.Leu621Arg)
c.688+2713T>G (n.688+2713T>G)
n.320T>G
n.794T>G
c.248T>G (p.Leu83Arg)
c.297-8T>G
c.204T>G (n.204T>G)
c.287T>G (p.Leu96Arg)
c.1681+2713T>G (n.1681+2713T>G)
c.1748T>G (p.Leu583Arg)
c.788T>G (p.Leu263Arg)
c.755T>G (p.Leu252Arg)
c.236T>G (p.Leu79Arg)
c.1829T>G (p.Leu610Arg)
c.190+2713T>G (n.190+2713T>G)
14g.21324718G>ACA484986227RPGRIP1c.1863G>A (p.Leu621=)
c.688+2714G>A (n.688+2714G>A)
n.321G>A
n.795G>A
c.249G>A (p.Leu83=)
c.297-7G>A
c.205G>A (n.205G>A)
c.288G>A (p.Leu96=)
c.1681+2714G>A (n.1681+2714G>A)
c.1749G>A (p.Leu583=)
c.789G>A (p.Leu263=)
c.756G>A (p.Leu252=)
c.237G>A (p.Leu79=)
c.1830G>A (p.Leu610=)
c.190+2714G>A (n.190+2714G>A)
14g.21324718G>CCA484986228RPGRIP1c.1863G>C (p.Leu621=)
c.688+2714G>C (n.688+2714G>C)
n.321G>C
n.795G>C
c.249G>C (p.Leu83=)
c.297-7G>C
c.205G>C (n.205G>C)
c.288G>C (p.Leu96=)
c.1681+2714G>C (n.1681+2714G>C)
c.1749G>C (p.Leu583=)
c.789G>C (p.Leu263=)
c.756G>C (p.Leu252=)
c.237G>C (p.Leu79=)
c.1830G>C (p.Leu610=)
c.190+2714G>C (n.190+2714G>C)
14g.21324718G=CA2122460093RPGRIP1c.1863G= (p.Leu621=)
c.688+2714G= (n.688+2714G=)
n.321G=
n.795G=
c.249G= (p.Leu83=)
c.297-7G=
c.205G= (n.205G=)
c.288G= (p.Leu96=)
c.1681+2714G= (n.1681+2714G=)
c.1749G= (p.Leu583=)
c.789G= (p.Leu263=)
c.756G= (p.Leu252=)
c.237G= (p.Leu79=)
c.1830G= (p.Leu610=)
c.190+2714G= (n.190+2714G=)
14g.21324718G>TCA484986229RPGRIP1c.1863G>T (p.Leu621=)
c.688+2714G>T (n.688+2714G>T)
n.321G>T
n.795G>T
c.249G>T (p.Leu83=)
c.297-7G>T
c.205G>T (n.205G>T)
c.288G>T (p.Leu96=)
c.1681+2714G>T (n.1681+2714G>T)
c.1749G>T (p.Leu583=)
c.789G>T (p.Leu263=)
c.756G>T (p.Leu252=)
c.237G>T (p.Leu79=)
c.1830G>T (p.Leu610=)
c.190+2714G>T (n.190+2714G>T)
 dbSNP
14g.21324719C>ACA388867050RPGRIP1c.1864C>A (p.His622Asn)
c.688+2715C>A (n.688+2715C>A)
n.322C>A
n.796C>A
c.250C>A (p.His84Asn)
c.297-6C>A
c.206C>A (n.206C>A)
c.289C>A (p.His97Asn)
c.1681+2715C>A (n.1681+2715C>A)
c.1750C>A (p.His584Asn)
c.790C>A (p.His264Asn)
c.757C>A (p.His253Asn)
c.238C>A (p.His80Asn)
c.1831C>A (p.His611Asn)
c.190+2715C>A (n.190+2715C>A)
14g.21324719C=CA2122460100RPGRIP1c.1864C= (p.His622=)
c.688+2715C= (n.688+2715C=)
n.322C=
n.796C=
c.250C= (p.His84=)
c.297-6C=
c.206C= (n.206C=)
c.289C= (p.His97=)
c.1681+2715C= (n.1681+2715C=)
c.1750C= (p.His584=)
c.790C= (p.His264=)
c.757C= (p.His253=)
c.238C= (p.His80=)
c.1831C= (p.His611=)
c.190+2715C= (n.190+2715C=)
14g.21324719C>GCA388867052RPGRIP1c.1864C>G (p.His622Asp)
c.688+2715C>G (n.688+2715C>G)
n.322C>G
n.796C>G
c.250C>G (p.His84Asp)
c.297-6C>G
c.206C>G (n.206C>G)
c.289C>G (p.His97Asp)
c.1681+2715C>G (n.1681+2715C>G)
c.1750C>G (p.His584Asp)
c.790C>G (p.His264Asp)
c.757C>G (p.His253Asp)
c.238C>G (p.His80Asp)
c.1831C>G (p.His611Asp)
c.190+2715C>G (n.190+2715C>G)
14g.21324719C>TCA388867054RPGRIP1c.1864C>T (p.His622Tyr)
c.688+2715C>T (n.688+2715C>T)
n.322C>T
n.796C>T
c.250C>T (p.His84Tyr)
c.297-6C>T
c.206C>T (n.206C>T)
c.289C>T (p.His97Tyr)
c.1681+2715C>T (n.1681+2715C>T)
c.1750C>T (p.His584Tyr)
c.790C>T (p.His264Tyr)
c.757C>T (p.His253Tyr)
c.238C>T (p.His80Tyr)
c.1831C>T (p.His611Tyr)
c.190+2715C>T (n.190+2715C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.21324720A=CA2122460108RPGRIP1c.1865A= (p.His622=)
c.688+2716A= (n.688+2716A=)
n.323A=
n.797A=
c.251A= (p.His84=)
c.297-5A=
c.207A= (n.207A=)
c.290A= (p.His97=)
c.1681+2716A= (n.1681+2716A=)
c.1751A= (p.His584=)
c.791A= (p.His264=)
c.758A= (p.His253=)
c.239A= (p.His80=)
c.1832A= (p.His611=)
c.190+2716A= (n.190+2716A=)
14g.21324720A>CCA388867056RPGRIP1c.1865A>C (p.His622Pro)
c.688+2716A>C (n.688+2716A>C)
n.323A>C
n.797A>C
c.251A>C (p.His84Pro)
c.297-5A>C
c.207A>C (n.207A>C)
c.290A>C (p.His97Pro)
c.1681+2716A>C (n.1681+2716A>C)
c.1751A>C (p.His584Pro)
c.791A>C (p.His264Pro)
c.758A>C (p.His253Pro)
c.239A>C (p.His80Pro)
c.1832A>C (p.His611Pro)
c.190+2716A>C (n.190+2716A>C)
14g.21324720A>GCA7089109RPGRIP1c.1865A>G (p.His622Arg)
c.688+2716A>G (n.688+2716A>G)
n.323A>G
n.797A>G
c.251A>G (p.His84Arg)
c.297-5A>G
c.207A>G (n.207A>G)
c.290A>G (p.His97Arg)
c.1681+2716A>G (n.1681+2716A>G)
c.1751A>G (p.His584Arg)
c.791A>G (p.His264Arg)
c.758A>G (p.His253Arg)
c.239A>G (p.His80Arg)
c.1832A>G (p.His611Arg)
c.190+2716A>G (n.190+2716A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21324720A>TCA388867059RPGRIP1c.1865A>T (p.His622Leu)
c.688+2716A>T (n.688+2716A>T)
n.323A>T
n.797A>T
c.251A>T (p.His84Leu)
c.297-5A>T
c.207A>T (n.207A>T)
c.290A>T (p.His97Leu)
c.1681+2716A>T (n.1681+2716A>T)
c.1751A>T (p.His584Leu)
c.791A>T (p.His264Leu)
c.758A>T (p.His253Leu)
c.239A>T (p.His80Leu)
c.1832A>T (p.His611Leu)
c.190+2716A>T (n.190+2716A>T)
14g.21324721T>ACA388867061RPGRIP1c.1866T>A (p.His622Gln)
c.688+2717T>A (n.688+2717T>A)
n.324T>A
n.798T>A
c.252T>A (p.His84Gln)
c.297-4T>A
c.208T>A (n.208T>A)
c.291T>A (p.His97Gln)
c.1681+2717T>A (n.1681+2717T>A)
c.1752T>A (p.His584Gln)
c.792T>A (p.His264Gln)
c.759T>A (p.His253Gln)
c.240T>A (p.His80Gln)
c.1833T>A (p.His611Gln)
c.190+2717T>A (n.190+2717T>A)
14g.21324721T>CCA484986231RPGRIP1c.1866T>C (p.His622=)
c.688+2717T>C (n.688+2717T>C)
n.324T>C
n.798T>C
c.252T>C (p.His84=)
c.297-4T>C
c.208T>C (n.208T>C)
c.291T>C (p.His97=)
c.1681+2717T>C (n.1681+2717T>C)
c.1752T>C (p.His584=)
c.792T>C (p.His264=)
c.759T>C (p.His253=)
c.240T>C (p.His80=)
c.1833T>C (p.His611=)
c.190+2717T>C (n.190+2717T>C)
14g.21324721T>GCA388867062RPGRIP1c.1866T>G (p.His622Gln)
c.688+2717T>G (n.688+2717T>G)
n.324T>G
n.798T>G
c.252T>G (p.His84Gln)
c.297-4T>G
c.208T>G (n.208T>G)
c.291T>G (p.His97Gln)
c.1681+2717T>G (n.1681+2717T>G)
c.1752T>G (p.His584Gln)
c.792T>G (p.His264Gln)
c.759T>G (p.His253Gln)
c.240T>G (p.His80Gln)
c.1833T>G (p.His611Gln)
c.190+2717T>G (n.190+2717T>G)
14g.21324722C>ACA388867063RPGRIP1c.1867C>A (p.Gln623Lys)
c.688+2718C>A (n.688+2718C>A)
n.325C>A
n.799C>A
c.253C>A (p.Gln85Lys)
c.297-3C>A
c.209C>A (n.209C>A)
c.292C>A (p.Gln98Lys)
c.1681+2718C>A (n.1681+2718C>A)
c.1753C>A (p.Gln585Lys)
c.793C>A (p.Gln265Lys)
c.760C>A (p.Gln254Lys)
c.241C>A (p.Gln81Lys)
c.1834C>A (p.Gln612Lys)
c.190+2718C>A (n.190+2718C>A)
14g.21324722C=CA2122460112RPGRIP1c.1867C= (p.Gln623=)
c.688+2718C= (n.688+2718C=)
n.325C=
n.799C=
c.253C= (p.Gln85=)
c.297-3C=
c.209C= (n.209C=)
c.292C= (p.Gln98=)
c.1681+2718C= (n.1681+2718C=)
c.1753C= (p.Gln585=)
c.793C= (p.Gln265=)
c.760C= (p.Gln254=)
c.241C= (p.Gln81=)
c.1834C= (p.Gln612=)
c.190+2718C= (n.190+2718C=)
14g.21324722C>GCA7089110RPGRIP1c.1867C>G (p.Gln623Glu)
c.688+2718C>G (n.688+2718C>G)
n.325C>G
n.799C>G
c.253C>G (p.Gln85Glu)
c.297-3C>G
c.209C>G (n.209C>G)
c.292C>G (p.Gln98Glu)
c.1681+2718C>G (n.1681+2718C>G)
c.1753C>G (p.Gln585Glu)
c.793C>G (p.Gln265Glu)
c.760C>G (p.Gln254Glu)
c.241C>G (p.Gln81Glu)
c.1834C>G (p.Gln612Glu)
c.190+2718C>G (n.190+2718C>G)
 dbSNP ExAC gnomAD v2
14g.21324722C>TCA388867065RPGRIP1c.1867C>T (p.Gln623Ter)
c.688+2718C>T (n.688+2718C>T)
n.325C>T
n.799C>T
c.253C>T (p.Gln85Ter)
c.297-3C>T
c.209C>T (n.209C>T)
c.292C>T (p.Gln98Ter)
c.1681+2718C>T (n.1681+2718C>T)
c.1753C>T (p.Gln585Ter)
c.793C>T (p.Gln265Ter)
c.760C>T (p.Gln254Ter)
c.241C>T (p.Gln81Ter)
c.1834C>T (p.Gln612Ter)
c.190+2718C>T (n.190+2718C>T)
 ClinVar dbSNP
14g.21324723A=CA2122460116RPGRIP1c.1868A= (p.Gln623=)
c.688+2719A= (n.688+2719A=)
n.326A=
n.800A=
c.254A= (p.Gln85=)
c.297-2A=
c.210A= (n.210A=)
c.293A= (p.Gln98=)
c.1681+2719A= (n.1681+2719A=)
c.1754A= (p.Gln585=)
c.794A= (p.Gln265=)
c.761A= (p.Gln254=)
c.242A= (p.Gln81=)
c.1835A= (p.Gln612=)
c.190+2719A= (n.190+2719A=)
14g.21324723A>CCA388867067RPGRIP1c.1868A>C (p.Gln623Pro)
c.688+2719A>C (n.688+2719A>C)
n.326A>C
n.800A>C
c.254A>C (p.Gln85Pro)
c.297-2A>C
c.210A>C (n.210A>C)
c.293A>C (p.Gln98Pro)
c.1681+2719A>C (n.1681+2719A>C)
c.1754A>C (p.Gln585Pro)
c.794A>C (p.Gln265Pro)
c.761A>C (p.Gln254Pro)
c.242A>C (p.Gln81Pro)
c.1835A>C (p.Gln612Pro)
c.190+2719A>C (n.190+2719A>C)
14g.21324723A>GCA7089111RPGRIP1c.1868A>G (p.Gln623Arg)
c.688+2719A>G (n.688+2719A>G)
n.326A>G
n.800A>G
c.254A>G (p.Gln85Arg)
c.297-2A>G
c.210A>G (n.210A>G)
c.293A>G (p.Gln98Arg)
c.1681+2719A>G (n.1681+2719A>G)
c.1754A>G (p.Gln585Arg)
c.794A>G (p.Gln265Arg)
c.761A>G (p.Gln254Arg)
c.242A>G (p.Gln81Arg)
c.1835A>G (p.Gln612Arg)
c.190+2719A>G (n.190+2719A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21324723A>TCA388867070RPGRIP1c.1868A>T (p.Gln623Leu)
c.688+2719A>T (n.688+2719A>T)
n.326A>T
n.800A>T
c.254A>T (p.Gln85Leu)
c.297-2A>T
c.210A>T (n.210A>T)
c.293A>T (p.Gln98Leu)
c.1681+2719A>T (n.1681+2719A>T)
c.1754A>T (p.Gln585Leu)
c.794A>T (p.Gln265Leu)
c.761A>T (p.Gln254Leu)
c.242A>T (p.Gln81Leu)
c.1835A>T (p.Gln612Leu)
c.190+2719A>T (n.190+2719A>T)
14g.21324724G>ACA484986233RPGRIP1c.1869G>A (p.Gln623=)
c.688+2720G>A (n.688+2720G>A)
n.327G>A
n.801G>A
c.255G>A (p.Gln85=)
c.297-1G>A
c.211G>A (n.211G>A)
c.294G>A (p.Gln98=)
c.1681+2720G>A (n.1681+2720G>A)
c.1755G>A (p.Gln585=)
c.795G>A (p.Gln265=)
c.762G>A (p.Gln254=)
c.243G>A (p.Gln81=)
c.1836G>A (p.Gln612=)
c.190+2720G>A (n.190+2720G>A)
14g.21324724G>CCA388867072RPGRIP1c.1869G>C (p.Gln623His)
c.688+2720G>C (n.688+2720G>C)
n.327G>C
n.801G>C
c.255G>C (p.Gln85His)
c.297-1G>C
c.211G>C (n.211G>C)
c.294G>C (p.Gln98His)
c.1681+2720G>C (n.1681+2720G>C)
c.1755G>C (p.Gln585His)
c.795G>C (p.Gln265His)
c.762G>C (p.Gln254His)
c.243G>C (p.Gln81His)
c.1836G>C (p.Gln612His)
c.190+2720G>C (n.190+2720G>C)
 gnomAD v4
14g.21324724G>TCA388867074RPGRIP1c.1869G>T (p.Gln623His)
c.688+2720G>T (n.688+2720G>T)
n.327G>T
n.801G>T
c.255G>T (p.Gln85His)
c.297-1G>T
c.211G>T (n.211G>T)
c.294G>T (p.Gln98His)
c.1681+2720G>T (n.1681+2720G>T)
c.1755G>T (p.Gln585His)
c.795G>T (p.Gln265His)
c.762G>T (p.Gln254His)
c.243G>T (p.Gln81His)
c.1836G>T (p.Gln612His)
c.190+2720G>T (n.190+2720G>T)
14g.21324725G>ACA388867076RPGRIP1c.1870G>A (p.Gly624Ser)
c.688+2721G>A (n.688+2721G>A)
n.328G>A
n.802G>A
c.256G>A (p.Gly86Ser)
c.297G>A
c.212G>A (n.212G>A)
c.295G>A (p.Gly99Ser)
c.1681+2721G>A (n.1681+2721G>A)
c.1756G>A (p.Gly586Ser)
c.796G>A (p.Gly266Ser)
c.763G>A (p.Gly255Ser)
c.244G>A (p.Gly82Ser)
c.796G>A (p.Glu266Lys)
c.796G>A (p.Gly266Arg)
c.1837G>A (p.Gly613Ser)
c.190+2721G>A (n.190+2721G>A)
 gnomAD v4
14g.21324725G>CCA388867078RPGRIP1c.1870G>C (p.Gly624Arg)
c.688+2721G>C (n.688+2721G>C)
n.328G>C
n.802G>C
c.256G>C (p.Gly86Arg)
c.297G>C
c.212G>C (n.212G>C)
c.295G>C (p.Gly99Arg)
c.1681+2721G>C (n.1681+2721G>C)
c.1756G>C (p.Gly586Arg)
c.796G>C (p.Gly266Arg)
c.763G>C (p.Gly255Arg)
c.244G>C (p.Gly82Arg)
c.796G>C (p.Glu266Gln)
c.1837G>C (p.Gly613Arg)
c.190+2721G>C (n.190+2721G>C)
 ClinVar dbSNP
14g.21324725G>TCA388867080RPGRIP1c.1870G>T (p.Gly624Cys)
c.688+2721G>T (n.688+2721G>T)
n.328G>T
n.802G>T
c.256G>T (p.Gly86Cys)
c.297G>T
c.212G>T (n.212G>T)
c.295G>T (p.Gly99Cys)
c.1681+2721G>T (n.1681+2721G>T)
c.1756G>T (p.Gly586Cys)
c.796G>T (p.Gly266Cys)
c.763G>T (p.Gly255Cys)
c.244G>T (p.Gly82Cys)
c.796G>T (p.Glu266Ter)
c.796G>T (p.Gly266Ter)
c.1837G>T (p.Gly613Cys)
c.190+2721G>T (n.190+2721G>T)
14g.21324726G>ACA388867082RPGRIP1c.1871G>A (p.Gly624Asp)
c.688+2722G>A (n.688+2722G>A)
n.328+1G>A
n.803G>A
c.257G>A (p.Gly86Asp)
c.298G>A
c.212+1G>A (n.212+1G>A)
c.296G>A (p.Gly99Asp)
c.1681+2722G>A (n.1681+2722G>A)
c.1757G>A (p.Gly586Asp)
c.797G>A (p.Gly266Asp)
c.764G>A (p.Gly255Asp)
c.245G>A (p.Gly82Asp)
c.796+1G>A (n.796+1G>A)
c.1838G>A (p.Gly613Asp)
c.190+2722G>A (n.190+2722G>A)
14g.21324726G>CCA388867084RPGRIP1c.1871G>C (p.Gly624Ala)
c.688+2722G>C (n.688+2722G>C)
n.328+1G>C
n.803G>C
c.257G>C (p.Gly86Ala)
c.298G>C
c.212+1G>C (n.212+1G>C)
c.296G>C (p.Gly99Ala)
c.1681+2722G>C (n.1681+2722G>C)
c.1757G>C (p.Gly586Ala)
c.797G>C (p.Gly266Ala)
c.764G>C (p.Gly255Ala)
c.245G>C (p.Gly82Ala)
c.796+1G>C (n.796+1G>C)
c.1838G>C (p.Gly613Ala)
c.190+2722G>C (n.190+2722G>C)
14g.21324726G>TCA388867086RPGRIP1c.1871G>T (p.Gly624Val)
c.688+2722G>T (n.688+2722G>T)
n.328+1G>T
n.803G>T
c.257G>T (p.Gly86Val)
c.298G>T
c.212+1G>T (n.212+1G>T)
c.296G>T (p.Gly99Val)
c.1681+2722G>T (n.1681+2722G>T)
c.1757G>T (p.Gly586Val)
c.797G>T (p.Gly266Val)
c.764G>T (p.Gly255Val)
c.245G>T (p.Gly82Val)
c.796+1G>T (n.796+1G>T)
c.1838G>T (p.Gly613Val)
c.190+2722G>T (n.190+2722G>T)
14g.21324727T>ACA484986239RPGRIP1c.1872T>A (p.Gly624=)
c.688+2723T>A (n.688+2723T>A)
n.328+2T>A
n.804T>A
c.258T>A (p.Gly86=)
c.299T>A
c.212+2T>A (n.212+2T>A)
c.297T>A (p.Gly99=)
c.1681+2723T>A (n.1681+2723T>A)
c.1758T>A (p.Gly586=)
c.798T>A (p.Gly266=)
c.765T>A (p.Gly255=)
c.246T>A (p.Gly82=)
c.796+2T>A (n.796+2T>A)
c.1839T>A (p.Gly613=)
c.190+2723T>A (n.190+2723T>A)
14g.21324727T>CCA484986237RPGRIP1c.1872T>C (p.Gly624=)
c.688+2723T>C (n.688+2723T>C)
n.328+2T>C
n.804T>C
c.258T>C (p.Gly86=)
c.299T>C
c.212+2T>C (n.212+2T>C)
c.297T>C (p.Gly99=)
c.1681+2723T>C (n.1681+2723T>C)
c.1758T>C (p.Gly586=)
c.798T>C (p.Gly266=)
c.765T>C (p.Gly255=)
c.246T>C (p.Gly82=)
c.796+2T>C (n.796+2T>C)
c.1839T>C (p.Gly613=)
c.190+2723T>C (n.190+2723T>C)
14g.21324727T>GCA484986238RPGRIP1c.1872T>G (p.Gly624=)
c.688+2723T>G (n.688+2723T>G)
n.328+2T>G
n.804T>G
c.258T>G (p.Gly86=)
c.299T>G
c.212+2T>G (n.212+2T>G)
c.297T>G (p.Gly99=)
c.1681+2723T>G (n.1681+2723T>G)
c.1758T>G (p.Gly586=)
c.798T>G (p.Gly266=)
c.765T>G (p.Gly255=)
c.246T>G (p.Gly82=)
c.796+2T>G (n.796+2T>G)
c.1839T>G (p.Gly613=)
c.190+2723T>G (n.190+2723T>G)
14g.21324728G>ACA388867088RPGRIP1c.1873G>A (p.Glu625Lys)
c.688+2724G>A (n.688+2724G>A)
n.328+3G>A
n.805G>A
c.259G>A (p.Glu87Lys)
c.300G>A
c.212+3G>A (n.212+3G>A)
c.298G>A (p.Glu100Lys)
c.1681+2724G>A (n.1681+2724G>A)
c.1759G>A (p.Glu587Lys)
c.799G>A (p.Glu267Lys)
c.766G>A (p.Glu256Lys)
c.247G>A (p.Glu83Lys)
c.796+3G>A (n.796+3G>A)
c.1840G>A (p.Glu614Lys)
c.190+2724G>A (n.190+2724G>A)
14g.21324728G>CCA388867089RPGRIP1c.1873G>C (p.Glu625Gln)
c.688+2724G>C (n.688+2724G>C)
n.328+3G>C
n.805G>C
c.259G>C (p.Glu87Gln)
c.300G>C
c.212+3G>C (n.212+3G>C)
c.298G>C (p.Glu100Gln)
c.1681+2724G>C (n.1681+2724G>C)
c.1759G>C (p.Glu587Gln)
c.799G>C (p.Glu267Gln)
c.766G>C (p.Glu256Gln)
c.247G>C (p.Glu83Gln)
c.796+3G>C (n.796+3G>C)
c.1840G>C (p.Glu614Gln)
c.190+2724G>C (n.190+2724G>C)
14g.21324728G>TCA388867091RPGRIP1c.1873G>T (p.Glu625Ter)
c.688+2724G>T (n.688+2724G>T)
n.328+3G>T
n.805G>T
c.259G>T (p.Glu87Ter)
c.300G>T
c.212+3G>T (n.212+3G>T)
c.298G>T (p.Glu100Ter)
c.1681+2724G>T (n.1681+2724G>T)
c.1759G>T (p.Glu587Ter)
c.799G>T (p.Glu267Ter)
c.766G>T (p.Glu256Ter)
c.247G>T (p.Glu83Ter)
c.796+3G>T (n.796+3G>T)
c.1840G>T (p.Glu614Ter)
c.190+2724G>T (n.190+2724G>T)
14g.21324729A>CCA388867094RPGRIP1c.1874A>C (p.Glu625Ala)
c.688+2725A>C (n.688+2725A>C)
n.328+4A>C
n.806A>C
c.260A>C (p.Glu87Ala)
c.301A>C
c.212+4A>C (n.212+4A>C)
c.299A>C (p.Glu100Ala)
c.1681+2725A>C (n.1681+2725A>C)
c.1760A>C (p.Glu587Ala)
c.800A>C (p.Glu267Ala)
c.767A>C (p.Glu256Ala)
c.248A>C (p.Glu83Ala)
c.796+4A>C (n.796+4A>C)
c.1841A>C (p.Glu614Ala)
c.190+2725A>C (n.190+2725A>C)
14g.21324729A>GCA388867095RPGRIP1c.1874A>G (p.Glu625Gly)
c.688+2725A>G (n.688+2725A>G)
n.328+4A>G
n.806A>G
c.260A>G (p.Glu87Gly)
c.301A>G
c.212+4A>G (n.212+4A>G)
c.299A>G (p.Glu100Gly)
c.1681+2725A>G (n.1681+2725A>G)
c.1760A>G (p.Glu587Gly)
c.800A>G (p.Glu267Gly)
c.767A>G (p.Glu256Gly)
c.248A>G (p.Glu83Gly)
c.796+4A>G (n.796+4A>G)
c.1841A>G (p.Glu614Gly)
c.190+2725A>G (n.190+2725A>G)
14g.21324729A>TCA388867097RPGRIP1c.1874A>T (p.Glu625Val)
c.688+2725A>T (n.688+2725A>T)
n.328+4A>T
n.806A>T
c.260A>T (p.Glu87Val)
c.301A>T
c.212+4A>T (n.212+4A>T)
c.299A>T (p.Glu100Val)
c.1681+2725A>T (n.1681+2725A>T)
c.1760A>T (p.Glu587Val)
c.800A>T (p.Glu267Val)
c.767A>T (p.Glu256Val)
c.248A>T (p.Glu83Val)
c.796+4A>T (n.796+4A>T)
c.1841A>T (p.Glu614Val)
c.190+2725A>T (n.190+2725A>T)
14g.21324730G>ACA484986242RPGRIP1c.1875G>A (p.Glu625=)
c.688+2726G>A (n.688+2726G>A)
n.328+5G>A
n.807G>A
c.261G>A (p.Glu87=)
c.302G>A
c.212+5G>A (n.212+5G>A)
c.300G>A (p.Glu100=)
c.1681+2726G>A (n.1681+2726G>A)
c.1761G>A (p.Glu587=)
c.801G>A (p.Glu267=)
c.768G>A (p.Glu256=)
c.249G>A (p.Glu83=)
c.796+5G>A (n.796+5G>A)
c.1842G>A (p.Glu614=)
c.190+2726G>A (n.190+2726G>A)
14g.21324730G>CCA388867101RPGRIP1c.1875G>C (p.Glu625Asp)
c.688+2726G>C (n.688+2726G>C)
n.328+5G>C
n.807G>C
c.261G>C (p.Glu87Asp)
c.302G>C
c.212+5G>C (n.212+5G>C)
c.300G>C (p.Glu100Asp)
c.1681+2726G>C (n.1681+2726G>C)
c.1761G>C (p.Glu587Asp)
c.801G>C (p.Glu267Asp)
c.768G>C (p.Glu256Asp)
c.249G>C (p.Glu83Asp)
c.796+5G>C (n.796+5G>C)
c.1842G>C (p.Glu614Asp)
c.190+2726G>C (n.190+2726G>C)
14g.21324730G>TCA388867099RPGRIP1c.1875G>T (p.Glu625Asp)
c.688+2726G>T (n.688+2726G>T)
n.328+5G>T
n.807G>T
c.261G>T (p.Glu87Asp)
c.302G>T
c.212+5G>T (n.212+5G>T)
c.300G>T (p.Glu100Asp)
c.1681+2726G>T (n.1681+2726G>T)
c.1761G>T (p.Glu587Asp)
c.801G>T (p.Glu267Asp)
c.768G>T (p.Glu256Asp)
c.249G>T (p.Glu83Asp)
c.796+5G>T (n.796+5G>T)
c.1842G>T (p.Glu614Asp)
c.190+2726G>T (n.190+2726G>T)
 ClinVar gnomAD v4
14g.21324731A=CA2122460119RPGRIP1c.1876A= (p.Asn626=)
c.688+2727A= (n.688+2727A=)
n.328+6A=
n.808A=
c.262A= (p.Asn88=)
c.303A=
c.212+6A= (n.212+6A=)
c.301A= (p.Asn101=)
c.1681+2727A= (n.1681+2727A=)
c.1762A= (p.Asn588=)
c.802A= (p.Asn268=)
c.769A= (p.Asn257=)
c.250A= (p.Asn84=)
c.796+6A= (n.796+6A=)
c.1843A= (p.Asn615=)
c.190+2727A= (n.190+2727A=)
14g.21324731A>CCA388867103RPGRIP1c.1876A>C (p.Asn626His)
c.688+2727A>C (n.688+2727A>C)
n.328+6A>C
n.808A>C
c.262A>C (p.Asn88His)
c.303A>C
c.212+6A>C (n.212+6A>C)
c.301A>C (p.Asn101His)
c.1681+2727A>C (n.1681+2727A>C)
c.1762A>C (p.Asn588His)
c.802A>C (p.Asn268His)
c.769A>C (p.Asn257His)
c.250A>C (p.Asn84His)
c.796+6A>C (n.796+6A>C)
c.1843A>C (p.Asn615His)
c.190+2727A>C (n.190+2727A>C)
14g.21324731A>GCA388867107RPGRIP1c.1876A>G (p.Asn626Asp)
c.688+2727A>G (n.688+2727A>G)
n.328+6A>G
n.808A>G
c.262A>G (p.Asn88Asp)
c.303A>G
c.212+6A>G (n.212+6A>G)
c.301A>G (p.Asn101Asp)
c.1681+2727A>G (n.1681+2727A>G)
c.1762A>G (p.Asn588Asp)
c.802A>G (p.Asn268Asp)
c.769A>G (p.Asn257Asp)
c.250A>G (p.Asn84Asp)
c.796+6A>G (n.796+6A>G)
c.1843A>G (p.Asn615Asp)
c.190+2727A>G (n.190+2727A>G)
14g.21324731A>TCA388867105RPGRIP1c.1876A>T (p.Asn626Tyr)
c.688+2727A>T (n.688+2727A>T)
n.328+6A>T
n.808A>T
c.262A>T (p.Asn88Tyr)
c.303A>T
c.212+6A>T (n.212+6A>T)
c.301A>T (p.Asn101Tyr)
c.1681+2727A>T (n.1681+2727A>T)
c.1762A>T (p.Asn588Tyr)
c.802A>T (p.Asn268Tyr)
c.769A>T (p.Asn257Tyr)
c.250A>T (p.Asn84Tyr)
c.796+6A>T (n.796+6A>T)
c.1843A>T (p.Asn615Tyr)
c.190+2727A>T (n.190+2727A>T)
 ClinVar dbSNP gnomAD v4
14g.21324732A=CA2122460126RPGRIP1c.1877A= (p.Asn626=)
c.688+2728A= (n.688+2728A=)
n.328+7A=
n.809A=
c.263A= (p.Asn88=)
c.304A=
c.212+7A= (n.212+7A=)
c.302A= (p.Asn101=)
c.1681+2728A= (n.1681+2728A=)
c.1763A= (p.Asn588=)
c.803A= (p.Asn268=)
c.770A= (p.Asn257=)
c.251A= (p.Asn84=)
c.796+7A= (n.796+7A=)
c.1844A= (p.Asn615=)
c.190+2728A= (n.190+2728A=)
14g.21324732A>CCA388867109RPGRIP1c.1877A>C (p.Asn626Thr)
c.688+2728A>C (n.688+2728A>C)
n.328+7A>C
n.809A>C
c.263A>C (p.Asn88Thr)
c.304A>C
c.212+7A>C (n.212+7A>C)
c.302A>C (p.Asn101Thr)
c.1681+2728A>C (n.1681+2728A>C)
c.1763A>C (p.Asn588Thr)
c.803A>C (p.Asn268Thr)
c.770A>C (p.Asn257Thr)
c.251A>C (p.Asn84Thr)
c.796+7A>C (n.796+7A>C)
c.1844A>C (p.Asn615Thr)
c.190+2728A>C (n.190+2728A>C)
14g.21324732A>GCA388867111RPGRIP1c.1877A>G (p.Asn626Ser)
c.688+2728A>G (n.688+2728A>G)
n.328+7A>G
n.809A>G
c.263A>G (p.Asn88Ser)
c.304A>G
c.212+7A>G (n.212+7A>G)
c.302A>G (p.Asn101Ser)
c.1681+2728A>G (n.1681+2728A>G)
c.1763A>G (p.Asn588Ser)
c.803A>G (p.Asn268Ser)
c.770A>G (p.Asn257Ser)
c.251A>G (p.Asn84Ser)
c.796+7A>G (n.796+7A>G)
c.1844A>G (p.Asn615Ser)
c.190+2728A>G (n.190+2728A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.21324732A>TCA388867112RPGRIP1c.1877A>T (p.Asn626Ile)
c.688+2728A>T (n.688+2728A>T)
n.328+7A>T
n.809A>T
c.263A>T (p.Asn88Ile)
c.304A>T
c.212+7A>T (n.212+7A>T)
c.302A>T (p.Asn101Ile)
c.1681+2728A>T (n.1681+2728A>T)
c.1763A>T (p.Asn588Ile)
c.803A>T (p.Asn268Ile)
c.770A>T (p.Asn257Ile)
c.251A>T (p.Asn84Ile)
c.796+7A>T (n.796+7A>T)
c.1844A>T (p.Asn615Ile)
c.190+2728A>T (n.190+2728A>T)
14g.21324733T>ACA388867114RPGRIP1c.1878T>A (p.Asn626Lys)
c.688+2729T>A (n.688+2729T>A)
n.328+8T>A
n.810T>A
c.264T>A (p.Asn88Lys)
c.305T>A
c.212+8T>A (n.212+8T>A)
c.303T>A (p.Asn101Lys)
c.1681+2729T>A (n.1681+2729T>A)
c.1764T>A (p.Asn588Lys)
c.804T>A (p.Asn268Lys)
c.771T>A (p.Asn257Lys)
c.252T>A (p.Asn84Lys)
c.796+8T>A (n.796+8T>A)
c.1845T>A (p.Asn615Lys)
c.190+2729T>A (n.190+2729T>A)
14g.21324733T>CCA484986246RPGRIP1c.1878T>C (p.Asn626=)
c.688+2729T>C (n.688+2729T>C)
n.328+8T>C
n.810T>C
c.264T>C (p.Asn88=)
c.305T>C
c.212+8T>C (n.212+8T>C)
c.303T>C (p.Asn101=)
c.1681+2729T>C (n.1681+2729T>C)
c.1764T>C (p.Asn588=)
c.804T>C (p.Asn268=)
c.771T>C (p.Asn257=)
c.252T>C (p.Asn84=)
c.796+8T>C (n.796+8T>C)
c.1845T>C (p.Asn615=)
c.190+2729T>C (n.190+2729T>C)
14g.21324733T>GCA388867116RPGRIP1c.1878T>G (p.Asn626Lys)
c.688+2729T>G (n.688+2729T>G)
n.328+8T>G
n.810T>G
c.264T>G (p.Asn88Lys)
c.305T>G
c.212+8T>G (n.212+8T>G)
c.303T>G (p.Asn101Lys)
c.1681+2729T>G (n.1681+2729T>G)
c.1764T>G (p.Asn588Lys)
c.804T>G (p.Asn268Lys)
c.771T>G (p.Asn257Lys)
c.252T>G (p.Asn84Lys)
c.796+8T>G (n.796+8T>G)
c.1845T>G (p.Asn615Lys)
c.190+2729T>G (n.190+2729T>G)
14g.21324734C>ACA388867119RPGRIP1c.1879C>A (p.Leu627Ile)
c.688+2730C>A (n.688+2730C>A)
n.328+9C>A
n.811C>A
c.265C>A (p.Leu89Ile)
c.306C>A
c.212+9C>A (n.212+9C>A)
c.304C>A (p.Leu102Ile)
c.1681+2730C>A (n.1681+2730C>A)
c.1765C>A (p.Leu589Ile)
c.805C>A (p.Leu269Ile)
c.772C>A (p.Leu258Ile)
c.253C>A (p.Leu85Ile)
c.796+9C>A (n.796+9C>A)
c.1846C>A (p.Leu616Ile)
c.190+2730C>A (n.190+2730C>A)
14g.21324734C>GCA388867121RPGRIP1c.1879C>G (p.Leu627Val)
c.688+2730C>G (n.688+2730C>G)
n.328+9C>G
n.811C>G
c.265C>G (p.Leu89Val)
c.306C>G
c.212+9C>G (n.212+9C>G)
c.304C>G (p.Leu102Val)
c.1681+2730C>G (n.1681+2730C>G)
c.1765C>G (p.Leu589Val)
c.805C>G (p.Leu269Val)
c.772C>G (p.Leu258Val)
c.253C>G (p.Leu85Val)
c.796+9C>G (n.796+9C>G)
c.1846C>G (p.Leu616Val)
c.190+2730C>G (n.190+2730C>G)
 gnomAD v4
14g.21324734C>TCA388867122RPGRIP1c.1879C>T (p.Leu627Phe)
c.688+2730C>T (n.688+2730C>T)
n.328+9C>T
n.811C>T
c.265C>T (p.Leu89Phe)
c.306C>T
c.212+9C>T (n.212+9C>T)
c.304C>T (p.Leu102Phe)
c.1681+2730C>T (n.1681+2730C>T)
c.1765C>T (p.Leu589Phe)
c.805C>T (p.Leu269Phe)
c.772C>T (p.Leu258Phe)
c.253C>T (p.Leu85Phe)
c.796+9C>T (n.796+9C>T)
c.1846C>T (p.Leu616Phe)
c.190+2730C>T (n.190+2730C>T)
 gnomAD v4
14g.21324735T>ACA388867124RPGRIP1c.1880T>A (p.Leu627His)
c.688+2731T>A (n.688+2731T>A)
n.328+10T>A
n.812T>A
c.266T>A (p.Leu89His)
c.307T>A
c.212+10T>A (n.212+10T>A)
c.305T>A (p.Leu102His)
c.1681+2731T>A (n.1681+2731T>A)
c.1766T>A (p.Leu589His)
c.806T>A (p.Leu269His)
c.773T>A (p.Leu258His)
c.254T>A (p.Leu85His)
c.796+10T>A (n.796+10T>A)
c.1847T>A (p.Leu616His)
c.190+2731T>A (n.190+2731T>A)
14g.21324735T>CCA388867126RPGRIP1c.1880T>C (p.Leu627Pro)
c.688+2731T>C (n.688+2731T>C)
n.328+10T>C
n.812T>C
c.266T>C (p.Leu89Pro)
c.307T>C
c.212+10T>C (n.212+10T>C)
c.305T>C (p.Leu102Pro)
c.1681+2731T>C (n.1681+2731T>C)
c.1766T>C (p.Leu589Pro)
c.806T>C (p.Leu269Pro)
c.773T>C (p.Leu258Pro)
c.254T>C (p.Leu85Pro)
c.796+10T>C (n.796+10T>C)
c.1847T>C (p.Leu616Pro)
c.190+2731T>C (n.190+2731T>C)
14g.21324735T>GCA388867127RPGRIP1c.1880T>G (p.Leu627Arg)
c.688+2731T>G (n.688+2731T>G)
n.328+10T>G
n.812T>G
c.266T>G (p.Leu89Arg)
c.307T>G
c.212+10T>G (n.212+10T>G)
c.305T>G (p.Leu102Arg)
c.1681+2731T>G (n.1681+2731T>G)
c.1766T>G (p.Leu589Arg)
c.806T>G (p.Leu269Arg)
c.773T>G (p.Leu258Arg)
c.254T>G (p.Leu85Arg)
c.796+10T>G (n.796+10T>G)
c.1847T>G (p.Leu616Arg)
c.190+2731T>G (n.190+2731T>G)
14g.21324736T>ACA484986249RPGRIP1c.1881T>A (p.Leu627=)
c.688+2732T>A (n.688+2732T>A)
n.328+11T>A
n.813T>A
c.267T>A (p.Leu89=)
c.308T>A
c.212+11T>A (n.212+11T>A)
c.306T>A (p.Leu102=)
c.1681+2732T>A (n.1681+2732T>A)
c.1767T>A (p.Leu589=)
c.807T>A (p.Leu269=)
c.774T>A (p.Leu258=)
c.255T>A (p.Leu85=)
c.796+11T>A (n.796+11T>A)
c.1848T>A (p.Leu616=)
c.190+2732T>A (n.190+2732T>A)
14g.21324736T>CCA484986251RPGRIP1c.1881T>C (p.Leu627=)
c.688+2732T>C (n.688+2732T>C)
n.328+11T>C
n.813T>C
c.267T>C (p.Leu89=)
c.308T>C
c.212+11T>C (n.212+11T>C)
c.306T>C (p.Leu102=)
c.1681+2732T>C (n.1681+2732T>C)
c.1767T>C (p.Leu589=)
c.807T>C (p.Leu269=)
c.774T>C (p.Leu258=)
c.255T>C (p.Leu85=)
c.796+11T>C (n.796+11T>C)
c.1848T>C (p.Leu616=)
c.190+2732T>C (n.190+2732T>C)
14g.21324736T>GCA484986250RPGRIP1c.1881T>G (p.Leu627=)
c.688+2732T>G (n.688+2732T>G)
n.328+11T>G
n.813T>G
c.267T>G (p.Leu89=)
c.308T>G
c.212+11T>G (n.212+11T>G)
c.306T>G (p.Leu102=)
c.1681+2732T>G (n.1681+2732T>G)
c.1767T>G (p.Leu589=)
c.807T>G (p.Leu269=)
c.774T>G (p.Leu258=)
c.255T>G (p.Leu85=)
c.796+11T>G (n.796+11T>G)
c.1848T>G (p.Leu616=)
c.190+2732T>G (n.190+2732T>G)
14g.21324737T>ACA388867129RPGRIP1c.1882T>A (p.Phe628Ile)
c.688+2733T>A (n.688+2733T>A)
n.328+12T>A
n.814T>A
c.268T>A (p.Phe90Ile)
c.309T>A
c.212+12T>A (n.212+12T>A)
c.307T>A (p.Phe103Ile)
c.1681+2733T>A (n.1681+2733T>A)
c.1768T>A (p.Phe590Ile)
c.808T>A (p.Phe270Ile)
c.775T>A (p.Phe259Ile)
c.256T>A (p.Phe86Ile)
c.796+12T>A (n.796+12T>A)
c.1849T>A (p.Phe617Ile)
c.190+2733T>A (n.190+2733T>A)
 dbSNP gnomAD v2 gnomAD v4
14g.21324737T>CCA388867131RPGRIP1c.1882T>C (p.Phe628Leu)
c.688+2733T>C (n.688+2733T>C)
n.328+12T>C
n.814T>C
c.268T>C (p.Phe90Leu)
c.309T>C
c.212+12T>C (n.212+12T>C)
c.307T>C (p.Phe103Leu)
c.1681+2733T>C (n.1681+2733T>C)
c.1768T>C (p.Phe590Leu)
c.808T>C (p.Phe270Leu)
c.775T>C (p.Phe259Leu)
c.256T>C (p.Phe86Leu)
c.796+12T>C (n.796+12T>C)
c.1849T>C (p.Phe617Leu)
c.190+2733T>C (n.190+2733T>C)
14g.21324737T>GCA388867133RPGRIP1c.1882T>G (p.Phe628Val)
c.688+2733T>G (n.688+2733T>G)
n.328+12T>G
n.814T>G
c.268T>G (p.Phe90Val)
c.309T>G
c.212+12T>G (n.212+12T>G)
c.307T>G (p.Phe103Val)
c.1681+2733T>G (n.1681+2733T>G)
c.1768T>G (p.Phe590Val)
c.808T>G (p.Phe270Val)
c.775T>G (p.Phe259Val)
c.256T>G (p.Phe86Val)
c.796+12T>G (n.796+12T>G)
c.1849T>G (p.Phe617Val)
c.190+2733T>G (n.190+2733T>G)
14g.21324737T=CA2122460130RPGRIP1c.1882T= (p.Phe628=)
c.688+2733T= (n.688+2733T=)
n.328+12T=
n.814T=
c.268T= (p.Phe90=)
c.309T=
c.212+12T= (n.212+12T=)
c.307T= (p.Phe103=)
c.1681+2733T= (n.1681+2733T=)
c.1768T= (p.Phe590=)
c.808T= (p.Phe270=)
c.775T= (p.Phe259=)
c.256T= (p.Phe86=)
c.796+12T= (n.796+12T=)
c.1849T= (p.Phe617=)
c.190+2733T= (n.190+2733T=)
14g.21324738T>ACA388867138RPGRIP1c.1883T>A (p.Phe628Tyr)
c.688+2734T>A (n.688+2734T>A)
n.328+13T>A
n.815T>A
c.269T>A (p.Phe90Tyr)
c.310T>A
c.212+13T>A (n.212+13T>A)
c.308T>A (p.Phe103Tyr)
c.1681+2734T>A (n.1681+2734T>A)
c.1769T>A (p.Phe590Tyr)
c.809T>A (p.Phe270Tyr)
c.776T>A (p.Phe259Tyr)
c.257T>A (p.Phe86Tyr)
c.796+13T>A (n.796+13T>A)
c.1850T>A (p.Phe617Tyr)
c.190+2734T>A (n.190+2734T>A)
14g.21324738T>CCA388867137RPGRIP1c.1883T>C (p.Phe628Ser)
c.688+2734T>C (n.688+2734T>C)
n.328+13T>C
n.815T>C
c.269T>C (p.Phe90Ser)
c.310T>C
c.212+13T>C (n.212+13T>C)
c.308T>C (p.Phe103Ser)
c.1681+2734T>C (n.1681+2734T>C)
c.1769T>C (p.Phe590Ser)
c.809T>C (p.Phe270Ser)
c.776T>C (p.Phe259Ser)
c.257T>C (p.Phe86Ser)
c.796+13T>C (n.796+13T>C)
c.1850T>C (p.Phe617Ser)
c.190+2734T>C (n.190+2734T>C)
14g.21324738T>GCA388867135RPGRIP1c.1883T>G (p.Phe628Cys)
c.688+2734T>G (n.688+2734T>G)
n.328+13T>G
n.815T>G
c.269T>G (p.Phe90Cys)
c.310T>G
c.212+13T>G (n.212+13T>G)
c.308T>G (p.Phe103Cys)
c.1681+2734T>G (n.1681+2734T>G)
c.1769T>G (p.Phe590Cys)
c.809T>G (p.Phe270Cys)
c.776T>G (p.Phe259Cys)
c.257T>G (p.Phe86Cys)
c.796+13T>G (n.796+13T>G)
c.1850T>G (p.Phe617Cys)
c.190+2734T>G (n.190+2734T>G)
14g.21324739T>ACA388867140RPGRIP1c.1884T>A (p.Phe628Leu)
c.688+2735T>A (n.688+2735T>A)
n.328+14T>A
n.816T>A
c.270T>A (p.Phe90Leu)
c.311T>A
c.212+14T>A (n.212+14T>A)
c.309T>A (p.Phe103Leu)
c.1681+2735T>A (n.1681+2735T>A)
c.1770T>A (p.Phe590Leu)
c.810T>A (p.Phe270Leu)
c.777T>A (p.Phe259Leu)
c.258T>A (p.Phe86Leu)
c.796+14T>A (n.796+14T>A)
c.1851T>A (p.Phe617Leu)
c.190+2735T>A (n.190+2735T>A)
14g.21324739T>CCA7089112RPGRIP1c.1884T>C (p.Phe628=)
c.688+2735T>C (n.688+2735T>C)
n.328+14T>C
n.816T>C
c.270T>C (p.Phe90=)
c.311T>C
c.212+14T>C (n.212+14T>C)
c.309T>C (p.Phe103=)
c.1681+2735T>C (n.1681+2735T>C)
c.1770T>C (p.Phe590=)
c.810T>C (p.Phe270=)
c.777T>C (p.Phe259=)
c.258T>C (p.Phe86=)
c.796+14T>C (n.796+14T>C)
c.1851T>C (p.Phe617=)
c.190+2735T>C (n.190+2735T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21324739T>GCA388867142RPGRIP1c.1884T>G (p.Phe628Leu)
c.688+2735T>G (n.688+2735T>G)
n.328+14T>G
n.816T>G
c.270T>G (p.Phe90Leu)
c.311T>G
c.212+14T>G (n.212+14T>G)
c.309T>G (p.Phe103Leu)
c.1681+2735T>G (n.1681+2735T>G)
c.1770T>G (p.Phe590Leu)
c.810T>G (p.Phe270Leu)
c.777T>G (p.Phe259Leu)
c.258T>G (p.Phe86Leu)
c.796+14T>G (n.796+14T>G)
c.1851T>G (p.Phe617Leu)
c.190+2735T>G (n.190+2735T>G)
14g.21324739T=CA2122460133RPGRIP1c.1884T= (p.Phe628=)
c.688+2735T= (n.688+2735T=)
n.328+14T=
n.816T=
c.270T= (p.Phe90=)
c.311T=
c.212+14T= (n.212+14T=)
c.309T= (p.Phe103=)
c.1681+2735T= (n.1681+2735T=)
c.1770T= (p.Phe590=)
c.810T= (p.Phe270=)
c.777T= (p.Phe259=)
c.258T= (p.Phe86=)
c.796+14T= (n.796+14T=)
c.1851T= (p.Phe617=)
c.190+2735T= (n.190+2735T=)
14g.21324740G>ACA388867145RPGRIP1c.1885G>A (p.Glu629Lys)
c.688+2736G>A (n.688+2736G>A)
n.328+15G>A
n.817G>A
c.271G>A (p.Glu91Lys)
c.312G>A
c.212+15G>A (n.212+15G>A)
c.310G>A (p.Glu104Lys)
c.1681+2736G>A (n.1681+2736G>A)
c.1771G>A (p.Glu591Lys)
c.811G>A (p.Glu271Lys)
c.778G>A (p.Glu260Lys)
c.259G>A (p.Glu87Lys)
c.796+15G>A (n.796+15G>A)
c.1852G>A (p.Glu618Lys)
c.190+2736G>A (n.190+2736G>A)
 COSMIC COSMIC COSMIC
14g.21324740G>CCA388867147RPGRIP1c.1885G>C (p.Glu629Gln)
c.688+2736G>C (n.688+2736G>C)
n.328+15G>C
n.817G>C
c.271G>C (p.Glu91Gln)
c.312G>C
c.212+15G>C (n.212+15G>C)
c.310G>C (p.Glu104Gln)
c.1681+2736G>C (n.1681+2736G>C)
c.1771G>C (p.Glu591Gln)
c.811G>C (p.Glu271Gln)
c.778G>C (p.Glu260Gln)
c.259G>C (p.Glu87Gln)
c.796+15G>C (n.796+15G>C)
c.1852G>C (p.Glu618Gln)
c.190+2736G>C (n.190+2736G>C)
 COSMIC COSMIC COSMIC
14g.21324740G>TCA388867149RPGRIP1c.1885G>T (p.Glu629Ter)
c.688+2736G>T (n.688+2736G>T)
n.328+15G>T
n.817G>T
c.271G>T (p.Glu91Ter)
c.312G>T
c.212+15G>T (n.212+15G>T)
c.310G>T (p.Glu104Ter)
c.1681+2736G>T (n.1681+2736G>T)
c.1771G>T (p.Glu591Ter)
c.811G>T (p.Glu271Ter)
c.778G>T (p.Glu260Ter)
c.259G>T (p.Glu87Ter)
c.796+15G>T (n.796+15G>T)
c.1852G>T (p.Glu618Ter)
c.190+2736G>T (n.190+2736G>T)
14g.21324741A>CCA388867152RPGRIP1c.1886A>C (p.Glu629Ala)
c.688+2737A>C (n.688+2737A>C)
n.328+16A>C
n.818A>C
c.272A>C (p.Glu91Ala)
c.313A>C
c.212+16A>C (n.212+16A>C)
c.311A>C (p.Glu104Ala)
c.1681+2737A>C (n.1681+2737A>C)
c.1772A>C (p.Glu591Ala)
c.812A>C (p.Glu271Ala)
c.779A>C (p.Glu260Ala)
c.260A>C (p.Glu87Ala)
c.796+16A>C (n.796+16A>C)
c.1853A>C (p.Glu618Ala)
c.190+2737A>C (n.190+2737A>C)
14g.21324741A>GCA388867153RPGRIP1c.1886A>G (p.Glu629Gly)
c.688+2737A>G (n.688+2737A>G)
n.328+16A>G
n.818A>G
c.272A>G (p.Glu91Gly)
c.313A>G
c.212+16A>G (n.212+16A>G)
c.311A>G (p.Glu104Gly)
c.1681+2737A>G (n.1681+2737A>G)
c.1772A>G (p.Glu591Gly)
c.812A>G (p.Glu271Gly)
c.779A>G (p.Glu260Gly)
c.260A>G (p.Glu87Gly)
c.796+16A>G (n.796+16A>G)
c.1853A>G (p.Glu618Gly)
c.190+2737A>G (n.190+2737A>G)
14g.21324741A>TCA388867155RPGRIP1c.1886A>T (p.Glu629Val)
c.688+2737A>T (n.688+2737A>T)
n.328+16A>T
n.818A>T
c.272A>T (p.Glu91Val)
c.313A>T
c.212+16A>T (n.212+16A>T)
c.311A>T (p.Glu104Val)
c.1681+2737A>T (n.1681+2737A>T)
c.1772A>T (p.Glu591Val)
c.812A>T (p.Glu271Val)
c.779A>T (p.Glu260Val)
c.260A>T (p.Glu87Val)
c.796+16A>T (n.796+16A>T)
c.1853A>T (p.Glu618Val)
c.190+2737A>T (n.190+2737A>T)
14g.21324742A>CCA388867158RPGRIP1c.1887A>C (p.Glu629Asp)
c.688+2738A>C (n.688+2738A>C)
n.328+17A>C
n.819A>C
c.273A>C (p.Glu91Asp)
c.314A>C
c.212+17A>C (n.212+17A>C)
c.312A>C (p.Glu104Asp)
c.1681+2738A>C (n.1681+2738A>C)
c.1773A>C (p.Glu591Asp)
c.813A>C (p.Glu271Asp)
c.780A>C (p.Glu260Asp)
c.261A>C (p.Glu87Asp)
c.796+17A>C (n.796+17A>C)
c.1854A>C (p.Glu618Asp)
c.190+2738A>C (n.190+2738A>C)
14g.21324742A>GCA484986258RPGRIP1c.1887A>G (p.Glu629=)
c.688+2738A>G (n.688+2738A>G)
n.328+17A>G
n.819A>G
c.273A>G (p.Glu91=)
c.314A>G
c.212+17A>G (n.212+17A>G)
c.312A>G (p.Glu104=)
c.1681+2738A>G (n.1681+2738A>G)
c.1773A>G (p.Glu591=)
c.813A>G (p.Glu271=)
c.780A>G (p.Glu260=)
c.261A>G (p.Glu87=)
c.796+17A>G (n.796+17A>G)
c.1854A>G (p.Glu618=)
c.190+2738A>G (n.190+2738A>G)
14g.21324742A>TCA388867159RPGRIP1c.1887A>T (p.Glu629Asp)
c.688+2738A>T (n.688+2738A>T)
n.328+17A>T
n.819A>T
c.273A>T (p.Glu91Asp)
c.314A>T
c.212+17A>T (n.212+17A>T)
c.312A>T (p.Glu104Asp)
c.1681+2738A>T (n.1681+2738A>T)
c.1773A>T (p.Glu591Asp)
c.813A>T (p.Glu271Asp)
c.780A>T (p.Glu260Asp)
c.261A>T (p.Glu87Asp)
c.796+17A>T (n.796+17A>T)
c.1854A>T (p.Glu618Asp)
c.190+2738A>T (n.190+2738A>T)
14g.21324743C>ACA388867162RPGRIP1c.1888C>A (p.Leu630Met)
c.688+2739C>A (n.688+2739C>A)
n.328+18C>A
n.820C>A
c.274C>A (p.Leu92Met)
c.315C>A
c.212+18C>A (n.212+18C>A)
c.313C>A (p.Leu105Met)
c.1681+2739C>A (n.1681+2739C>A)
c.1774C>A (p.Leu592Met)
c.814C>A (p.Leu272Met)
c.781C>A (p.Leu261Met)
c.262C>A (p.Leu88Met)
c.796+18C>A (n.796+18C>A)
c.1855C>A (p.Leu619Met)
c.190+2739C>A (n.190+2739C>A)
14g.21324743C=CA2122460136RPGRIP1c.1888C= (p.Leu630=)
c.688+2739C= (n.688+2739C=)
n.328+18C=
n.820C=
c.274C= (p.Leu92=)
c.315C=
c.212+18C= (n.212+18C=)
c.313C= (p.Leu105=)
c.1681+2739C= (n.1681+2739C=)
c.1774C= (p.Leu592=)
c.814C= (p.Leu272=)
c.781C= (p.Leu261=)
c.262C= (p.Leu88=)
c.796+18C= (n.796+18C=)
c.1855C= (p.Leu619=)
c.190+2739C= (n.190+2739C=)
14g.21324743C>GCA388867164RPGRIP1c.1888C>G (p.Leu630Val)
c.688+2739C>G (n.688+2739C>G)
n.328+18C>G
n.820C>G
c.274C>G (p.Leu92Val)
c.315C>G
c.212+18C>G (n.212+18C>G)
c.313C>G (p.Leu105Val)
c.1681+2739C>G (n.1681+2739C>G)
c.1774C>G (p.Leu592Val)
c.814C>G (p.Leu272Val)
c.781C>G (p.Leu261Val)
c.262C>G (p.Leu88Val)
c.796+18C>G (n.796+18C>G)
c.1855C>G (p.Leu619Val)
c.190+2739C>G (n.190+2739C>G)
 gnomAD v4
14g.21324743C>TCA7089113RPGRIP1c.1888C>T (p.Leu630=)
c.688+2739C>T (n.688+2739C>T)
n.328+18C>T
n.820C>T
c.274C>T (p.Leu92=)
c.315C>T
c.212+18C>T (n.212+18C>T)
c.313C>T (p.Leu105=)
c.1681+2739C>T (n.1681+2739C>T)
c.1774C>T (p.Leu592=)
c.814C>T (p.Leu272=)
c.781C>T (p.Leu261=)
c.262C>T (p.Leu88=)
c.796+18C>T (n.796+18C>T)
c.1855C>T (p.Leu619=)
c.190+2739C>T (n.190+2739C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.21324744T>ACA388867169RPGRIP1c.1889T>A (p.Leu630Gln)
c.688+2740T>A (n.688+2740T>A)
n.328+19T>A
n.821T>A
c.275T>A (p.Leu92Gln)
c.316T>A
c.212+19T>A (n.212+19T>A)
c.314T>A (p.Leu105Gln)
c.1681+2740T>A (n.1681+2740T>A)
c.1775T>A (p.Leu592Gln)
c.815T>A (p.Leu272Gln)
c.782T>A (p.Leu261Gln)
c.263T>A (p.Leu88Gln)
c.796+19T>A (n.796+19T>A)
c.1856T>A (p.Leu619Gln)
c.190+2740T>A (n.190+2740T>A)
14g.21324744T>CCA388867171RPGRIP1c.1889T>C (p.Leu630Pro)
c.688+2740T>C (n.688+2740T>C)
n.328+19T>C
n.821T>C
c.275T>C (p.Leu92Pro)
c.316T>C
c.212+19T>C (n.212+19T>C)
c.314T>C (p.Leu105Pro)
c.1681+2740T>C (n.1681+2740T>C)
c.1775T>C (p.Leu592Pro)
c.815T>C (p.Leu272Pro)
c.782T>C (p.Leu261Pro)
c.263T>C (p.Leu88Pro)
c.796+19T>C (n.796+19T>C)
c.1856T>C (p.Leu619Pro)
c.190+2740T>C (n.190+2740T>C)
14g.21324744T>GCA388867167RPGRIP1c.1889T>G (p.Leu630Arg)
c.688+2740T>G (n.688+2740T>G)
n.328+19T>G
n.821T>G
c.275T>G (p.Leu92Arg)
c.316T>G
c.212+19T>G (n.212+19T>G)
c.314T>G (p.Leu105Arg)
c.1681+2740T>G (n.1681+2740T>G)
c.1775T>G (p.Leu592Arg)
c.815T>G (p.Leu272Arg)
c.782T>G (p.Leu261Arg)
c.263T>G (p.Leu88Arg)
c.796+19T>G (n.796+19T>G)
c.1856T>G (p.Leu619Arg)
c.190+2740T>G (n.190+2740T>G)
14g.21324745G>ACA484986262RPGRIP1c.1890G>A (p.Leu630=)
c.688+2741G>A (n.688+2741G>A)
n.328+20G>A
n.822G>A
c.276G>A (p.Leu92=)
c.317G>A
c.212+20G>A (n.212+20G>A)
c.315G>A (p.Leu105=)
c.1681+2741G>A (n.1681+2741G>A)
c.1776G>A (p.Leu592=)
c.816G>A (p.Leu272=)
c.783G>A (p.Leu261=)
c.264G>A (p.Leu88=)
c.796+20G>A (n.796+20G>A)
c.1857G>A (p.Leu619=)
c.190+2741G>A (n.190+2741G>A)
 gnomAD v4 COSMIC COSMIC COSMIC
14g.21324745G>CCA484986263RPGRIP1c.1890G>C (p.Leu630=)
c.688+2741G>C (n.688+2741G>C)
n.328+20G>C
n.822G>C
c.276G>C (p.Leu92=)
c.317G>C
c.212+20G>C (n.212+20G>C)
c.315G>C (p.Leu105=)
c.1681+2741G>C (n.1681+2741G>C)
c.1776G>C (p.Leu592=)
c.816G>C (p.Leu272=)
c.783G>C (p.Leu261=)
c.264G>C (p.Leu88=)
c.796+20G>C (n.796+20G>C)
c.1857G>C (p.Leu619=)
c.190+2741G>C (n.190+2741G>C)
 gnomAD v4
14g.21324745G>TCA484986264RPGRIP1c.1890G>T (p.Leu630=)
c.688+2741G>T (n.688+2741G>T)
n.328+20G>T
n.822G>T
c.276G>T (p.Leu92=)
c.317G>T
c.212+20G>T (n.212+20G>T)
c.315G>T (p.Leu105=)
c.1681+2741G>T (n.1681+2741G>T)
c.1776G>T (p.Leu592=)
c.816G>T (p.Leu272=)
c.783G>T (p.Leu261=)
c.264G>T (p.Leu88=)
c.796+20G>T (n.796+20G>T)
c.1857G>T (p.Leu619=)
c.190+2741G>T (n.190+2741G>T)
14g.21324746C>ACA388867174RPGRIP1c.1891C>A (p.His631Asn)
c.688+2742C>A (n.688+2742C>A)
n.328+21C>A
n.823C>A
c.277C>A (p.His93Asn)
c.318C>A
c.212+21C>A (n.212+21C>A)
c.316C>A (p.His106Asn)
c.1681+2742C>A (n.1681+2742C>A)
c.1777C>A (p.His593Asn)
c.817C>A (p.His273Asn)
c.784C>A (p.His262Asn)
c.265C>A (p.His89Asn)
c.796+21C>A (n.796+21C>A)
c.1858C>A (p.His620Asn)
c.190+2742C>A (n.190+2742C>A)
14g.21324746C=CA2122460140RPGRIP1c.1891C= (p.His631=)
c.688+2742C= (n.688+2742C=)
n.328+21C=
n.823C=
c.277C= (p.His93=)
c.318C=
c.212+21C= (n.212+21C=)
c.316C= (p.His106=)
c.1681+2742C= (n.1681+2742C=)
c.1777C= (p.His593=)
c.817C= (p.His273=)
c.784C= (p.His262=)
c.265C= (p.His89=)
c.796+21C= (n.796+21C=)
c.1858C= (p.His620=)
c.190+2742C= (n.190+2742C=)
14g.21324746C>GCA7089114RPGRIP1c.1891C>G (p.His631Asp)
c.688+2742C>G (n.688+2742C>G)
n.328+21C>G
n.823C>G
c.277C>G (p.His93Asp)
c.318C>G
c.212+21C>G (n.212+21C>G)
c.316C>G (p.His106Asp)
c.1681+2742C>G (n.1681+2742C>G)
c.1777C>G (p.His593Asp)
c.817C>G (p.His273Asp)
c.784C>G (p.His262Asp)
c.265C>G (p.His89Asp)
c.796+21C>G (n.796+21C>G)
c.1858C>G (p.His620Asp)
c.190+2742C>G (n.190+2742C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21324746C>TCA388867176RPGRIP1c.1891C>T (p.His631Tyr)
c.688+2742C>T (n.688+2742C>T)
n.328+21C>T
n.823C>T
c.277C>T (p.His93Tyr)
c.318C>T
c.212+21C>T (n.212+21C>T)
c.316C>T (p.His106Tyr)
c.1681+2742C>T (n.1681+2742C>T)
c.1777C>T (p.His593Tyr)
c.817C>T (p.His273Tyr)
c.784C>T (p.His262Tyr)
c.265C>T (p.His89Tyr)
c.796+21C>T (n.796+21C>T)
c.1858C>T (p.His620Tyr)
c.190+2742C>T (n.190+2742C>T)
14g.21324747A=CA2122460143RPGRIP1c.1892A= (p.His631=)
c.688+2743A= (n.688+2743A=)
n.328+22A=
n.824A=
c.278A= (p.His93=)
c.319A=
c.212+22A= (n.212+22A=)
c.317A= (p.His106=)
c.1681+2743A= (n.1681+2743A=)
c.1778A= (p.His593=)
c.818A= (p.His273=)
c.785A= (p.His262=)
c.266A= (p.His89=)
c.796+22A= (n.796+22A=)
c.1859A= (p.His620=)
c.190+2743A= (n.190+2743A=)
14g.21324747A>CCA388867179RPGRIP1c.1892A>C (p.His631Pro)
c.688+2743A>C (n.688+2743A>C)
n.328+22A>C
n.824A>C
c.278A>C (p.His93Pro)
c.319A>C
c.212+22A>C (n.212+22A>C)
c.317A>C (p.His106Pro)
c.1681+2743A>C (n.1681+2743A>C)
c.1778A>C (p.His593Pro)
c.818A>C (p.His273Pro)
c.785A>C (p.His262Pro)
c.266A>C (p.His89Pro)
c.796+22A>C (n.796+22A>C)
c.1859A>C (p.His620Pro)
c.190+2743A>C (n.190+2743A>C)
14g.21324747A>GCA7089115RPGRIP1c.1892A>G (p.His631Arg)
c.688+2743A>G (n.688+2743A>G)
n.328+22A>G
n.824A>G
c.278A>G (p.His93Arg)
c.319A>G
c.212+22A>G (n.212+22A>G)
c.317A>G (p.His106Arg)
c.1681+2743A>G (n.1681+2743A>G)
c.1778A>G (p.His593Arg)
c.818A>G (p.His273Arg)
c.785A>G (p.His262Arg)
c.266A>G (p.His89Arg)
c.796+22A>G (n.796+22A>G)
c.1859A>G (p.His620Arg)
c.190+2743A>G (n.190+2743A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21324747A>TCA170857RPGRIP1c.1892A>T (p.His631Leu)
c.688+2743A>T (n.688+2743A>T)
n.328+22A>T
n.824A>T
c.278A>T (p.His93Leu)
c.319A>T
c.212+22A>T (n.212+22A>T)
c.317A>T (p.His106Leu)
c.1681+2743A>T (n.1681+2743A>T)
c.1778A>T (p.His593Leu)
c.818A>T (p.His273Leu)
c.785A>T (p.His262Leu)
c.266A>T (p.His89Leu)
c.796+22A>T (n.796+22A>T)
c.1859A>T (p.His620Leu)
c.190+2743A>T (n.190+2743A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched