| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.54625878T>A | CA370992504 | RP1 | c.1996T>A (p.Ser666Thr) c.787+3590T>A (n.787+3590T>A) c.2017T>A (p.Ser673Thr) | |
| 8 | g.54625878T>C | CA370992505 | RP1 | c.1996T>C (p.Ser666Pro) c.787+3590T>C (n.787+3590T>C) c.2017T>C (p.Ser673Pro) | |
| 8 | g.54625878T>G | CA370992506 | RP1 | c.1996T>G (p.Ser666Ala) c.787+3590T>G (n.787+3590T>G) c.2017T>G (p.Ser673Ala) | |
| 8 | g.54625879C>A | CA370992507 | RP1 | c.1997C>A (p.Ser666Ter) c.787+3591C>A (n.787+3591C>A) c.2018C>A (p.Ser673Ter) | |
| 8 | g.54625879C>G | CA370992508 | RP1 | c.1997C>G (p.Ser666Ter) c.787+3591C>G (n.787+3591C>G) c.2018C>G (p.Ser673Ter) | |
| 8 | g.54625879C>T | CA370992509 | RP1 | c.1997C>T (p.Ser666Leu) c.787+3591C>T (n.787+3591C>T) c.2018C>T (p.Ser673Leu) | COSMIC |
| 8 | g.54625880A= | CA1785188065 | RP1 | c.1998A= (p.Ser666=) c.787+3592A= (n.787+3592A=) c.2019A= (p.Ser673=) | |
| 8 | g.54625880A>C | CA461098710 | RP1 | c.1998A>C (p.Ser666=) c.787+3592A>C (n.787+3592A>C) c.2019A>C (p.Ser673=) | |
| 8 | g.54625880A>G | CA461098711 | RP1 | c.1998A>G (p.Ser666=) c.787+3592A>G (n.787+3592A>G) c.2019A>G (p.Ser673=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54625880A>T | CA461098712 | RP1 | c.1998A>T (p.Ser666=) c.787+3592A>T (n.787+3592A>T) c.2019A>T (p.Ser673=) | |
| 8 | g.54625881T>A | CA370992510 | RP1 | c.1999T>A (p.Ser667Thr) c.787+3593T>A (n.787+3593T>A) c.2020T>A (p.Ser674Thr) | |
| 8 | g.54625881T>C | CA370992511 | RP1 | c.1999T>C (p.Ser667Pro) c.787+3593T>C (n.787+3593T>C) c.2020T>C (p.Ser674Pro) | |
| 8 | g.54625881T>G | CA370992512 | RP1 | c.1999T>G (p.Ser667Ala) c.787+3593T>G (n.787+3593T>G) c.2020T>G (p.Ser674Ala) | |
| 8 | g.54625881_54625882insACTA | CA2780387004 | RP1 | c.1999_2000insACTA (p.Ser667TyrfsTer?) c.787+3593_787+3594insACTA (n.787+3593_787+3594insACTA) c.2020_2021insACTA (p.Ser674TyrfsTer?) | |
| 8 | g.54625882C>A | CA370992514 | RP1 | c.2000C>A (p.Ser667Tyr) c.787+3594C>A (n.787+3594C>A) c.2021C>A (p.Ser674Tyr) | |
| 8 | g.54625882C= | CA1785188066 | RP1 | c.2000C= (p.Ser667=) c.787+3594C= (n.787+3594C=) c.2021C= (p.Ser674=) | |
| 8 | g.54625882C>G | CA370992513 | RP1 | c.2000C>G (p.Ser667Cys) c.787+3594C>G (n.787+3594C>G) c.2021C>G (p.Ser674Cys) | |
| 8 | g.54625882C>T | CA4751462 | RP1 | c.2000C>T (p.Ser667Phe) c.787+3594C>T (n.787+3594C>T) c.2021C>T (p.Ser674Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54625882_54625883insACA | CA2780387005 | RP1 | c.2000_2001insACA (p.Ser667_Val668insHis) c.787+3594_787+3595insACA (n.787+3594_787+3595insACA) c.2021_2022insACA (p.Ser674_Val675insHis) | |
| 8 | g.54625883del | CA2580078488 | RP1 | c.2001del (p.Val668LeufsTer14) c.787+3595del (n.787+3595del) c.2022del (p.Val675LeufsTer14) | ClinVar |
| 8 | g.54625883T>A | CA461098715 | RP1 | c.2001T>A (p.Ser667=) c.787+3595T>A (n.787+3595T>A) c.2022T>A (p.Ser674=) | |
| 8 | g.54625883T>C | CA461098716 | RP1 | c.2001T>C (p.Ser667=) c.787+3595T>C (n.787+3595T>C) c.2022T>C (p.Ser674=) | |
| 8 | g.54625883T>G | CA461098718 | RP1 | c.2001T>G (p.Ser667=) c.787+3595T>G (n.787+3595T>G) c.2022T>G (p.Ser674=) | dbSNP |
| 8 | g.54625883T= | CA1785188067 | RP1 | c.2001T= (p.Ser667=) c.787+3595T= (n.787+3595T=) c.2022T= (p.Ser674=) | |
| 8 | g.54625884del | CA2573143218 | RP1 | c.2002del (p.Val668LeufsTer14) c.787+3596del (n.787+3596del) c.2023del (p.Val675LeufsTer14) | dbSNP |
| 8 | g.54625884G>A | CA370992515 | RP1 | c.2002G>A (p.Val668Ile) c.787+3596G>A (n.787+3596G>A) c.2023G>A (p.Val675Ile) | |
| 8 | g.54625884G>C | CA370992516 | RP1 | c.2002G>C (p.Val668Leu) c.787+3596G>C (n.787+3596G>C) c.2023G>C (p.Val675Leu) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54625884G= | CA1785188068 | RP1 | c.2002G= (p.Val668=) c.787+3596G= (n.787+3596G=) c.2023G= (p.Val675=) | |
| 8 | g.54625884G>T | CA370992517 | RP1 | c.2002G>T (p.Val668Phe) c.787+3596G>T (n.787+3596G>T) c.2023G>T (p.Val675Phe) | |
| 8 | g.54625885T>A | CA370992518 | RP1 | c.2003T>A (p.Val668Asp) c.787+3597T>A (n.787+3597T>A) c.2024T>A (p.Val675Asp) | |
| 8 | g.54625885T>C | CA370992519 | RP1 | c.2003T>C (p.Val668Ala) c.787+3597T>C (n.787+3597T>C) c.2024T>C (p.Val675Ala) | |
| 8 | g.54625885T>G | CA370992520 | RP1 | c.2003T>G (p.Val668Gly) c.787+3597T>G (n.787+3597T>G) c.2024T>G (p.Val675Gly) | |
| 8 | g.54625886T>A | CA461098723 | RP1 | c.2004T>A (p.Val668=) c.787+3598T>A (n.787+3598T>A) c.2025T>A (p.Val675=) | |
| 8 | g.54625886T>C | CA461098724 | RP1 | c.2004T>C (p.Val668=) c.787+3598T>C (n.787+3598T>C) c.2025T>C (p.Val675=) | |
| 8 | g.54625886T>G | CA461098725 | RP1 | c.2004T>G (p.Val668=) c.787+3598T>G (n.787+3598T>G) c.2025T>G (p.Val675=) | |
| 8 | g.54625887del | CA2780387006 | RP1 | c.2005del (p.Ala669ProfsTer13) c.787+3599del (n.787+3599del) c.2026del (p.Ala676ProfsTer13) | |
| 8 | g.54625887G>A | CA4751463 | RP1 | c.2005G>A (p.Ala669Thr) c.787+3599G>A (n.787+3599G>A) c.2026G>A (p.Ala676Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54625887G>C | CA370992521 | RP1 | c.2005G>C (p.Ala669Pro) c.787+3599G>C (n.787+3599G>C) c.2026G>C (p.Ala676Pro) | |
| 8 | g.54625887G= | CA1785188069 | RP1 | c.2005G= (p.Ala669=) c.787+3599G= (n.787+3599G=) c.2026G= (p.Ala676=) | |
| 8 | g.54625887G>T | CA370992522 | RP1 | c.2005G>T (p.Ala669Ser) c.787+3599G>T (n.787+3599G>T) c.2026G>T (p.Ala676Ser) | COSMIC |
| 8 | g.54625887_54625889del | CA2780387007 | RP1 | c.2005_2007del (p.Ala669del) c.787+3599_787+3601del (n.787+3599_787+3601del) c.2026_2028del (p.Ala676del) | |
| 8 | g.54625888C>A | CA370992523 | RP1 | c.2006C>A (p.Ala669Asp) c.787+3600C>A (n.787+3600C>A) c.2027C>A (p.Ala676Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54625888C= | CA1785188070 | RP1 | c.2006C= (p.Ala669=) c.787+3600C= (n.787+3600C=) c.2027C= (p.Ala676=) | |
| 8 | g.54625888C>G | CA370992524 | RP1 | c.2006C>G (p.Ala669Gly) c.787+3600C>G (n.787+3600C>G) c.2027C>G (p.Ala676Gly) | |
| 8 | g.54625888C>T | CA370992525 | RP1 | c.2006C>T (p.Ala669Val) c.787+3600C>T (n.787+3600C>T) c.2027C>T (p.Ala676Val) | dbSNP gnomAD v4 |
| 8 | g.54625889C>A | CA461098730 | RP1 | c.2007C>A (p.Ala669=) c.787+3601C>A (n.787+3601C>A) c.2028C>A (p.Ala676=) | |
| 8 | g.54625889C>G | CA461098731 | RP1 | c.2007C>G (p.Ala669=) c.787+3601C>G (n.787+3601C>G) c.2028C>G (p.Ala676=) | |
| 8 | g.54625889C>T | CA461098732 | RP1 | c.2007C>T (p.Ala669=) c.787+3601C>T (n.787+3601C>T) c.2028C>T (p.Ala676=) | gnomAD v4 |
| 8 | g.54625890A>C | CA370992528 | RP1 | c.2008A>C (p.Ser670Arg) c.787+3602A>C (n.787+3602A>C) c.2029A>C (p.Ser677Arg) | |
| 8 | g.54625890A>G | CA370992527 | RP1 | c.2008A>G (p.Ser670Gly) c.787+3602A>G (n.787+3602A>G) c.2029A>G (p.Ser677Gly) | |
| 8 | g.54625890A>T | CA370992526 | RP1 | c.2008A>T (p.Ser670Cys) c.787+3602A>T (n.787+3602A>T) c.2029A>T (p.Ser677Cys) | |
| 8 | g.54625891G>A | CA370992529 | RP1 | c.2009G>A (p.Ser670Asn) c.787+3603G>A (n.787+3603G>A) c.2030G>A (p.Ser677Asn) | |
| 8 | g.54625891G>C | CA370992530 | RP1 | c.2009G>C (p.Ser670Thr) c.787+3603G>C (n.787+3603G>C) c.2030G>C (p.Ser677Thr) | |
| 8 | g.54625891G>T | CA370992531 | RP1 | c.2009G>T (p.Ser670Ile) c.787+3603G>T (n.787+3603G>T) c.2030G>T (p.Ser677Ile) | |
| 8 | g.54625892C>A | CA370992532 | RP1 | c.2010C>A (p.Ser670Arg) c.787+3604C>A (n.787+3604C>A) c.2031C>A (p.Ser677Arg) | |
| 8 | g.54625892C>G | CA370992533 | RP1 | c.2010C>G (p.Ser670Arg) c.787+3604C>G (n.787+3604C>G) c.2031C>G (p.Ser677Arg) | gnomAD v4 |
| 8 | g.54625892C>T | CA461098736 | RP1 | c.2010C>T (p.Ser670=) c.787+3604C>T (n.787+3604C>T) c.2031C>T (p.Ser677=) | |
| 8 | g.54625893A= | CA1785188071 | RP1 | c.2011A= (p.Lys671=) c.787+3605A= (n.787+3605A=) c.2032A= (p.Lys678=) | |
| 8 | g.54625893A>C | CA4751464 | RP1 | c.2011A>C (p.Lys671Gln) c.787+3605A>C (n.787+3605A>C) c.2032A>C (p.Lys678Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54625893A>G | CA370992534 | RP1 | c.2011A>G (p.Lys671Glu) c.787+3605A>G (n.787+3605A>G) c.2032A>G (p.Lys678Glu) | |
| 8 | g.54625893A>T | CA370992535 | RP1 | c.2011A>T (p.Lys671Ter) c.787+3605A>T (n.787+3605A>T) c.2032A>T (p.Lys678Ter) | |
| 8 | g.54625897dup | CA2573053024 | RP1 | c.2015dup (p.Lys673GlufsTer25) c.787+3609dup (n.787+3609dup) c.2036dup (p.Lys680GlufsTer25) | ClinVar dbSNP |
| 8 | g.54625897del | CA923726313 | RP1 | c.2015del (p.Lys672ArgfsTer10) c.787+3609del (n.787+3609del) c.2036del (p.Lys679ArgfsTer10) | ClinVar |
| 8 | g.54625894A>C | CA370992536 | RP1 | c.2012A>C (p.Lys671Thr) c.787+3606A>C (n.787+3606A>C) c.2033A>C (p.Lys678Thr) | |
| 8 | g.54625894A>G | CA370992537 | RP1 | c.2012A>G (p.Lys671Arg) c.787+3606A>G (n.787+3606A>G) c.2033A>G (p.Lys678Arg) | |
| 8 | g.54625894A>T | CA370992538 | RP1 | c.2012A>T (p.Lys671Ile) c.787+3606A>T (n.787+3606A>T) c.2033A>T (p.Lys678Ile) | |
| 8 | g.54625895A>C | CA370992539 | RP1 | c.2013A>C (p.Lys671Asn) c.787+3607A>C (n.787+3607A>C) c.2034A>C (p.Lys678Asn) | |
| 8 | g.54625895A>G | CA461098744 | RP1 | c.2013A>G (p.Lys671=) c.787+3607A>G (n.787+3607A>G) c.2034A>G (p.Lys678=) | |
| 8 | g.54625895A>T | CA370992540 | RP1 | c.2013A>T (p.Lys671Asn) c.787+3607A>T (n.787+3607A>T) c.2034A>T (p.Lys678Asn) | |
| 8 | g.54625896A>C | CA370992543 | RP1 | c.2014A>C (p.Lys672Gln) c.787+3608A>C (n.787+3608A>C) c.2035A>C (p.Lys679Gln) | |
| 8 | g.54625896A>G | CA370992542 | RP1 | c.2014A>G (p.Lys672Glu) c.787+3608A>G (n.787+3608A>G) c.2035A>G (p.Lys679Glu) | |
| 8 | g.54625896A>T | CA370992541 | RP1 | c.2014A>T (p.Lys672Ter) c.787+3608A>T (n.787+3608A>T) c.2035A>T (p.Lys679Ter) | |
| 8 | g.54625901_54625903del | CA2579168457 | RP1 | c.2019_2021del (p.Lys674del) c.787+3613_787+3615del (n.787+3613_787+3615del) c.2040_2042del (p.Lys681del) | |
| 8 | g.54625897A>C | CA370992544 | RP1 | c.2015A>C (p.Lys672Thr) c.787+3609A>C (n.787+3609A>C) c.2036A>C (p.Lys679Thr) | |
| 8 | g.54625897A>G | CA370992545 | RP1 | c.2015A>G (p.Lys672Arg) c.787+3609A>G (n.787+3609A>G) c.2036A>G (p.Lys679Arg) | |
| 8 | g.54625897A>T | CA370992546 | RP1 | c.2015A>T (p.Lys672Met) c.787+3609A>T (n.787+3609A>T) c.2036A>T (p.Lys679Met) | |
| 8 | g.54625898G>A | CA177236958 | RP1 | c.2016G>A (p.Lys672=) c.787+3610G>A (n.787+3610G>A) c.2037G>A (p.Lys679=) | dbSNP COSMIC |
| 8 | g.54625898G>C | CA177236962 | RP1 | c.2016G>C (p.Lys672Asn) c.787+3610G>C (n.787+3610G>C) c.2037G>C (p.Lys679Asn) | dbSNP gnomAD v4 |
| 8 | g.54625898G= | CA1785188072 | RP1 | c.2016G= (p.Lys672=) c.787+3610G= (n.787+3610G=) c.2037G= (p.Lys679=) | |
| 8 | g.54625898G>T | CA4751465 | RP1 | c.2016G>T (p.Lys672Asn) c.787+3610G>T (n.787+3610G>T) c.2037G>T (p.Lys679Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.54625899A= | CA1785188073 | RP1 | c.2017A= (p.Lys673=) c.787+3611A= (n.787+3611A=) c.2038A= (p.Lys680=) | |
| 8 | g.54625899A>C | CA370992547 | RP1 | c.2017A>C (p.Lys673Gln) c.787+3611A>C (n.787+3611A>C) c.2038A>C (p.Lys680Gln) | |
| 8 | g.54625899A>G | CA4751466 | RP1 | c.2017A>G (p.Lys673Glu) c.787+3611A>G (n.787+3611A>G) c.2038A>G (p.Lys680Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54625899A>T | CA370992548 | RP1 | c.2017A>T (p.Lys673Ter) c.787+3611A>T (n.787+3611A>T) c.2038A>T (p.Lys680Ter) | ClinVar dbSNP |
| 8 | g.54625900del | CA2499219346 | RP1 | c.2018del (p.Lys673ArgfsTer9) c.787+3612del (n.787+3612del) c.2039del (p.Lys680ArgfsTer9) | ClinVar dbSNP |
| 8 | g.54625900A>C | CA370992549 | RP1 | c.2018A>C (p.Lys673Thr) c.787+3612A>C (n.787+3612A>C) c.2039A>C (p.Lys680Thr) | |
| 8 | g.54625900A>G | CA370992550 | RP1 | c.2018A>G (p.Lys673Arg) c.787+3612A>G (n.787+3612A>G) c.2039A>G (p.Lys680Arg) | |
| 8 | g.54625900A>T | CA370992551 | RP1 | c.2018A>T (p.Lys673Met) c.787+3612A>T (n.787+3612A>T) c.2039A>T (p.Lys680Met) | |
| 8 | g.54625901G>A | CA461098754 | RP1 | c.2019G>A (p.Lys673=) c.787+3613G>A (n.787+3613G>A) c.2040G>A (p.Lys680=) | |
| 8 | g.54625901G>C | CA370992552 | RP1 | c.2019G>C (p.Lys673Asn) c.787+3613G>C (n.787+3613G>C) c.2040G>C (p.Lys680Asn) | |
| 8 | g.54625901G= | CA1785188074 | RP1 | c.2019G= (p.Lys673=) c.787+3613G= (n.787+3613G=) c.2040G= (p.Lys680=) | |
| 8 | g.54625901G>T | CA370992553 | RP1 | c.2019G>T (p.Lys673Asn) c.787+3613G>T (n.787+3613G>T) c.2040G>T (p.Lys680Asn) | COSMIC |
| 8 | g.54625902A= | CA1785188075 | RP1 | c.2020A= (p.Lys674=) c.787+3614A= (n.787+3614A=) c.2041A= (p.Lys681=) | |
| 8 | g.54625902A>C | CA370992555 | RP1 | c.2020A>C (p.Lys674Gln) c.787+3614A>C (n.787+3614A>C) c.2041A>C (p.Lys681Gln) | dbSNP |
| 8 | g.54625902A>G | CA370992556 | RP1 | c.2020A>G (p.Lys674Glu) c.787+3614A>G (n.787+3614A>G) c.2041A>G (p.Lys681Glu) | gnomAD v4 |
| 8 | g.54625902A>T | CA370992554 | RP1 | c.2020A>T (p.Lys674Ter) c.787+3614A>T (n.787+3614A>T) c.2041A>T (p.Lys681Ter) | |
| 8 | g.54625907dup | CA582205357 | RP1 | c.2025dup (p.Ser676IlefsTer22) c.787+3619dup (n.787+3619dup) c.2046dup (p.Ser683IlefsTer22) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54625907del | CA2695209261 | RP1 | c.2025del (p.Lys675AsnfsTer7) c.787+3619del (n.787+3619del) c.2046del (p.Lys682AsnfsTer7) | ClinVar |
| 8 | g.54625903A= | CA1785188076 | RP1 | c.2021A= (p.Lys674=) c.787+3615A= (n.787+3615A=) c.2042A= (p.Lys681=) | |
| 8 | g.54625903A>C | CA370992557 | RP1 | c.2021A>C (p.Lys674Thr) c.787+3615A>C (n.787+3615A>C) c.2042A>C (p.Lys681Thr) | |
| 8 | g.54625903A>G | CA4751467 | RP1 | c.2021A>G (p.Lys674Arg) c.787+3615A>G (n.787+3615A>G) c.2042A>G (p.Lys681Arg) | dbSNP ExAC gnomAD v2 |
| 8 | g.54625903A>T | CA370992558 | RP1 | c.2021A>T (p.Lys674Ile) c.787+3615A>T (n.787+3615A>T) c.2042A>T (p.Lys681Ile) | |
| 8 | g.54625904A>C | CA370992559 | RP1 | c.2022A>C (p.Lys674Asn) c.787+3616A>C (n.787+3616A>C) c.2043A>C (p.Lys681Asn) | |
| 8 | g.54625904A>G | CA461098759 | RP1 | c.2022A>G (p.Lys674=) c.787+3616A>G (n.787+3616A>G) c.2043A>G (p.Lys681=) | |
| 8 | g.54625904A>T | CA370992560 | RP1 | c.2022A>T (p.Lys674Asn) c.787+3616A>T (n.787+3616A>T) c.2043A>T (p.Lys681Asn) | |
| 8 | g.54625905A>C | CA370992561 | RP1 | c.2023A>C (p.Lys675Gln) c.787+3617A>C (n.787+3617A>C) c.2044A>C (p.Lys682Gln) | |
| 8 | g.54625905A>G | CA370992562 | RP1 | c.2023A>G (p.Lys675Glu) c.787+3617A>G (n.787+3617A>G) c.2044A>G (p.Lys682Glu) | |
| 8 | g.54625905A>T | CA370992563 | RP1 | c.2023A>T (p.Lys675Ter) c.787+3617A>T (n.787+3617A>T) c.2044A>T (p.Lys682Ter) | |
| 8 | g.54625906A= | CA1785188077 | RP1 | c.2024A= (p.Lys675=) c.787+3618A= (n.787+3618A=) c.2045A= (p.Lys682=) | |
| 8 | g.54625906A>C | CA370992564 | RP1 | c.2024A>C (p.Lys675Thr) c.787+3618A>C (n.787+3618A>C) c.2045A>C (p.Lys682Thr) | |
| 8 | g.54625906A>G | CA370992565 | RP1 | c.2024A>G (p.Lys675Arg) c.787+3618A>G (n.787+3618A>G) c.2045A>G (p.Lys682Arg) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54625906A>T | CA4751468 | RP1 | c.2024A>T (p.Lys675Ile) c.787+3618A>T (n.787+3618A>T) c.2045A>T (p.Lys682Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54625907A= | CA1785188078 | RP1 | c.2025A= (p.Lys675=) c.787+3619A= (n.787+3619A=) c.2046A= (p.Lys682=) | |
| 8 | g.54625907A>C | CA177236971 | RP1 | c.2025A>C (p.Lys675Asn) c.787+3619A>C (n.787+3619A>C) c.2046A>C (p.Lys682Asn) | dbSNP |
| 8 | g.54625907A>G | CA461098761 | RP1 | c.2025A>G (p.Lys675=) c.787+3619A>G (n.787+3619A>G) c.2046A>G (p.Lys682=) | ClinVar dbSNP |
| 8 | g.54625907A>T | CA370992566 | RP1 | c.2025A>T (p.Lys675Asn) c.787+3619A>T (n.787+3619A>T) c.2046A>T (p.Lys682Asn) | ClinVar dbSNP |
| 8 | g.54625907_54625908delinsAT | CA1785188079 | RP1 | c.2025_2026delinsAT (p.Lys675=) c.787+3619_787+3620delinsAT (n.787+3619_787+3620delinsAT) c.2046_2047delinsAT (p.Lys682=) | |
| 8 | g.54625908del | CA915945687 | RP1 | c.2026del (p.Ser676LeufsTer6) c.787+3620del (n.787+3620del) c.2047del (p.Ser683LeufsTer6) | ClinVar dbSNP |
| 8 | g.54625908T>A | CA370992569 | RP1 | c.2026T>A (p.Ser676Thr) c.787+3620T>A (n.787+3620T>A) c.2047T>A (p.Ser683Thr) | |
| 8 | g.54625908T>C | CA370992567 | RP1 | c.2026T>C (p.Ser676Pro) c.787+3620T>C (n.787+3620T>C) c.2047T>C (p.Ser683Pro) | |
| 8 | g.54625908T>G | CA370992568 | RP1 | c.2026T>G (p.Ser676Ala) c.787+3620T>G (n.787+3620T>G) c.2047T>G (p.Ser683Ala) | COSMIC |
| 8 | g.54625909C>A | CA4751469 | RP1 | c.2027C>A (p.Ser676Tyr) c.787+3621C>A (n.787+3621C>A) c.2048C>A (p.Ser683Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54625909C= | CA1785188080 | RP1 | c.2027C= (p.Ser676=) c.787+3621C= (n.787+3621C=) c.2048C= (p.Ser683=) | |
| 8 | g.54625909C>G | CA370992570 | RP1 | c.2027C>G (p.Ser676Cys) c.787+3621C>G (n.787+3621C>G) c.2048C>G (p.Ser683Cys) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54625909C>T | CA370992571 | RP1 | c.2027C>T (p.Ser676Phe) c.787+3621C>T (n.787+3621C>T) c.2048C>T (p.Ser683Phe) | dbSNP gnomAD v4 |
| 8 | g.54625910T>A | CA461098763 | RP1 | c.2028T>A (p.Ser676=) c.787+3622T>A (n.787+3622T>A) c.2049T>A (p.Ser683=) | |
| 8 | g.54625910T>C | CA461098764 | RP1 | c.2028T>C (p.Ser676=) c.787+3622T>C (n.787+3622T>C) c.2049T>C (p.Ser683=) | |
| 8 | g.54625910T>G | CA461098766 | RP1 | c.2028T>G (p.Ser676=) c.787+3622T>G (n.787+3622T>G) c.2049T>G (p.Ser683=) | |
| 8 | g.54625911del | CA2695209262 | RP1 | c.2029del (p.Arg677AspfsTer5) c.787+3623del (n.787+3623del) c.2050del (p.Arg684AspfsTer5) | |
| 8 | g.54625911C>A | CA461098768 | RP1 | c.2029C>A (p.Arg677=) c.787+3623C>A (n.787+3623C>A) c.2050C>A (p.Arg684=) | dbSNP |
| 8 | g.54625911C= | CA1785188081 | RP1 | c.2029C= (p.Arg677=) c.787+3623C= (n.787+3623C=) c.2050C= (p.Arg684=) | |
| 8 | g.54625911C>G | CA370992572 | RP1 | c.2029C>G (p.Arg677Gly) c.787+3623C>G (n.787+3623C>G) c.2050C>G (p.Arg684Gly) | dbSNP |
| 8 | g.54625911C>T | CA253665 | RP1 | c.2029C>T (p.Arg677Ter) c.787+3623C>T (n.787+3623C>T) c.2050C>T (p.Arg684Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 8 | g.54625912G>A | CA177236987 | RP1 | c.2030G>A (p.Arg677Gln) c.787+3624G>A (n.787+3624G>A) c.2051G>A (p.Arg684Gln) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54625912G>C | CA370992573 | RP1 | c.2030G>C (p.Arg677Pro) c.787+3624G>C (n.787+3624G>C) c.2051G>C (p.Arg684Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54625912G= | CA1785188082 | RP1 | c.2030G= (p.Arg677=) c.787+3624G= (n.787+3624G=) c.2051G= (p.Arg684=) | |
| 8 | g.54625912G>T | CA370992574 | RP1 | c.2030G>T (p.Arg677Leu) c.787+3624G>T (n.787+3624G>T) c.2051G>T (p.Arg684Leu) | gnomAD v4 |
| 8 | g.54625913A>C | CA461098769 | RP1 | c.2031A>C (p.Arg677=) c.787+3625A>C (n.787+3625A>C) c.2052A>C (p.Arg684=) | |
| 8 | g.54625913A>G | CA461098770 | RP1 | c.2031A>G (p.Arg677=) c.787+3625A>G (n.787+3625A>G) c.2052A>G (p.Arg684=) | |
| 8 | g.54625913A>T | CA461098771 | RP1 | c.2031A>T (p.Arg677=) c.787+3625A>T (n.787+3625A>T) c.2052A>T (p.Arg684=) | |
| 8 | g.54625914C>A | CA370992575 | RP1 | c.2032C>A (p.Gln678Lys) c.787+3626C>A (n.787+3626C>A) c.2053C>A (p.Gln685Lys) | |
| 8 | g.54625914C= | CA1785188083 | RP1 | c.2032C= (p.Gln678=) c.787+3626C= (n.787+3626C=) c.2053C= (p.Gln685=) | |
| 8 | g.54625914C>G | CA370992576 | RP1 | c.2032C>G (p.Gln678Glu) c.787+3626C>G (n.787+3626C>G) c.2053C>G (p.Gln685Glu) | |
| 8 | g.54625914C>T | CA10581673 | RP1 | c.2032C>T (p.Gln678Ter) c.787+3626C>T (n.787+3626C>T) c.2053C>T (p.Gln685Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54625915A>C | CA370992579 | RP1 | c.2033A>C (p.Gln678Pro) c.787+3627A>C (n.787+3627A>C) c.2054A>C (p.Gln685Pro) | |
| 8 | g.54625915A>G | CA370992578 | RP1 | c.2033A>G (p.Gln678Arg) c.787+3627A>G (n.787+3627A>G) c.2054A>G (p.Gln685Arg) | |
| 8 | g.54625915A>T | CA370992577 | RP1 | c.2033A>T (p.Gln678Leu) c.787+3627A>T (n.787+3627A>T) c.2054A>T (p.Gln685Leu) | |
| 8 | g.54625916G>A | CA4751470 | RP1 | c.2034G>A (p.Gln678=) c.787+3628G>A (n.787+3628G>A) c.2055G>A (p.Gln685=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.54625916G>C | CA370992581 | RP1 | c.2034G>C (p.Gln678His) c.787+3628G>C (n.787+3628G>C) c.2055G>C (p.Gln685His) | |
| 8 | g.54625916G= | CA1785188084 | RP1 | c.2034G= (p.Gln678=) c.787+3628G= (n.787+3628G=) c.2055G= (p.Gln685=) | |
| 8 | g.54625916G>T | CA370992580 | RP1 | c.2034G>T (p.Gln678His) c.787+3628G>T (n.787+3628G>T) c.2055G>T (p.Gln685His) | |
| 8 | g.54625917C>A | CA370992582 | RP1 | c.2035C>A (p.Gln679Lys) c.787+3629C>A (n.787+3629C>A) c.2056C>A (p.Gln686Lys) | |
| 8 | g.54625917C= | CA1785188085 | RP1 | c.2035C= (p.Gln679=) c.787+3629C= (n.787+3629C=) c.2056C= (p.Gln686=) | |
| 8 | g.54625917C>G | CA370992583 | RP1 | c.2035C>G (p.Gln679Glu) c.787+3629C>G (n.787+3629C>G) c.2056C>G (p.Gln686Glu) | |
| 8 | g.54625917C>T | CA253667 | RP1 | c.2035C>T (p.Gln679Ter) c.787+3629C>T (n.787+3629C>T) c.2056C>T (p.Gln686Ter) | ClinVar dbSNP |
| 8 | g.54625918A>C | CA370992584 | RP1 | c.2036A>C (p.Gln679Pro) c.787+3630A>C (n.787+3630A>C) c.2057A>C (p.Gln686Pro) | |
| 8 | g.54625918A>G | CA370992585 | RP1 | c.2036A>G (p.Gln679Arg) c.787+3630A>G (n.787+3630A>G) c.2057A>G (p.Gln686Arg) | |
| 8 | g.54625918A>T | CA370992586 | RP1 | c.2036A>T (p.Gln679Leu) c.787+3630A>T (n.787+3630A>T) c.2057A>T (p.Gln686Leu) | gnomAD v4 |
| 8 | g.54625919del | CA2580078490 | RP1 | c.2037del (p.Ala680GlnfsTer2) c.787+3631del (n.787+3631del) c.2058del (p.Ala687GlnfsTer2) | ClinVar |
| 8 | g.54625919A>C | CA370992588 | RP1 | c.2037A>C (p.Gln679His) c.787+3631A>C (n.787+3631A>C) c.2058A>C (p.Gln686His) | |
| 8 | g.54625919A>G | CA461098774 | RP1 | c.2037A>G (p.Gln679=) c.787+3631A>G (n.787+3631A>G) c.2058A>G (p.Gln686=) | |
| 8 | g.54625919A>T | CA370992587 | RP1 | c.2037A>T (p.Gln679His) c.787+3631A>T (n.787+3631A>T) c.2058A>T (p.Gln686His) | |
| 8 | g.54625920G>A | CA370992589 | RP1 | c.2038G>A (p.Ala680Thr) c.787+3632G>A (n.787+3632G>A) c.2059G>A (p.Ala687Thr) | gnomAD v4 |
| 8 | g.54625920G>C | CA370992590 | RP1 | c.2038G>C (p.Ala680Pro) c.787+3632G>C (n.787+3632G>C) c.2059G>C (p.Ala687Pro) | |
| 8 | g.54625920G>T | CA370992591 | RP1 | c.2038G>T (p.Ala680Ser) c.787+3632G>T (n.787+3632G>T) c.2059G>T (p.Ala687Ser) | |
| 8 | g.54625921C>A | CA370992592 | RP1 | c.2039C>A (p.Ala680Glu) c.787+3633C>A (n.787+3633C>A) c.2060C>A (p.Ala687Glu) | |
| 8 | g.54625921C= | CA1785188086 | RP1 | c.2039C= (p.Ala680=) c.787+3633C= (n.787+3633C=) c.2060C= (p.Ala687=) | |
| 8 | g.54625921C>G | CA370992593 | RP1 | c.2039C>G (p.Ala680Gly) c.787+3633C>G (n.787+3633C>G) c.2060C>G (p.Ala687Gly) | |
| 8 | g.54625921C>T | CA370992594 | RP1 | c.2039C>T (p.Ala680Val) c.787+3633C>T (n.787+3633C>T) c.2060C>T (p.Ala687Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.54625922A>C | CA461098777 | RP1 | c.2040A>C (p.Ala680=) c.787+3634A>C (n.787+3634A>C) c.2061A>C (p.Ala687=) | |
| 8 | g.54625922A>G | CA461098778 | RP1 | c.2040A>G (p.Ala680=) c.787+3634A>G (n.787+3634A>G) c.2061A>G (p.Ala687=) | |
| 8 | g.54625922A>T | CA461098779 | RP1 | c.2040A>T (p.Ala680=) c.787+3634A>T (n.787+3634A>T) c.2061A>T (p.Ala687=) | |
| 8 | g.54625923dup | CA461098776 | RP1 | c.2041dup (p.Ile681AsnfsTer17) c.787+3635dup (n.787+3635dup) c.2062dup (p.Ile688AsnfsTer17) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54625923A= | CA1785188088 | RP1 | c.2041A= (p.Ile681=) c.787+3635A= (n.787+3635A=) c.2062A= (p.Ile688=) | |
| 8 | g.54625923A>C | CA370992596 | RP1 | c.2041A>C (p.Ile681Leu) c.787+3635A>C (n.787+3635A>C) c.2062A>C (p.Ile688Leu) | COSMIC |
| 8 | g.54625923A>G | CA4751471 | RP1 | c.2041A>G (p.Ile681Val) c.787+3635A>G (n.787+3635A>G) c.2062A>G (p.Ile688Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54625923A>T | CA370992595 | RP1 | c.2041A>T (p.Ile681Leu) c.787+3635A>T (n.787+3635A>T) c.2062A>T (p.Ile688Leu) | |
| 8 | g.54625923_54625924delinsAT | CA1785188087 | RP1 | c.2041_2042delinsAT (p.Ile681=) c.787+3635_787+3636delinsAT (n.787+3635_787+3636delinsAT) c.2062_2063delinsAT (p.Ile688=) | |
| 8 | g.54625924T>A | CA177236998 | RP1 | c.2042T>A (p.Ile681Lys) c.787+3636T>A (n.787+3636T>A) c.2063T>A (p.Ile688Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54625924T>C | CA370992597 | RP1 | c.2042T>C (p.Ile681Thr) c.787+3636T>C (n.787+3636T>C) c.2063T>C (p.Ile688Thr) | |
| 8 | g.54625924T>G | CA370992598 | RP1 | c.2042T>G (p.Ile681Arg) c.787+3636T>G (n.787+3636T>G) c.2063T>G (p.Ile688Arg) | |
| 8 | g.54625924T= | CA1785188089 | RP1 | c.2042T= (p.Ile681=) c.787+3636T= (n.787+3636T=) c.2063T= (p.Ile688=) | |
| 8 | g.54625924delinsAA | CA1139660530 | RP1 | c.2042delinsAA (p.Ile681LysfsTer17) c.787+3636delinsAA (n.787+3636delinsAA) c.2063delinsAA (p.Ile688LysfsTer17) | ClinVar dbSNP |
| 8 | g.54625925A>C | CA461098783 | RP1 | c.2043A>C (p.Ile681=) c.787+3637A>C (n.787+3637A>C) c.2064A>C (p.Ile688=) | |
| 8 | g.54625925A>G | CA370992599 | RP1 | c.2043A>G (p.Ile681Met) c.787+3637A>G (n.787+3637A>G) c.2064A>G (p.Ile688Met) | |
| 8 | g.54625925A>T | CA461098782 | RP1 | c.2043A>T (p.Ile681=) c.787+3637A>T (n.787+3637A>T) c.2064A>T (p.Ile688=) | |
| 8 | g.54625926A>C | CA370992600 | RP1 | c.2044A>C (p.Asn682His) c.787+3638A>C (n.787+3638A>C) c.2065A>C (p.Asn689His) | |
| 8 | g.54625926A>G | CA370992601 | RP1 | c.2044A>G (p.Asn682Asp) c.787+3638A>G (n.787+3638A>G) c.2065A>G (p.Asn689Asp) | |
| 8 | g.54625926A>T | CA370992602 | RP1 | c.2044A>T (p.Asn682Tyr) c.787+3638A>T (n.787+3638A>T) c.2065A>T (p.Asn689Tyr) | |
| 8 | g.54625927A= | CA1785188090 | RP1 | c.2045A= (p.Asn682=) c.787+3639A= (n.787+3639A=) c.2066A= (p.Asn689=) | |
| 8 | g.54625927A>C | CA370992603 | RP1 | c.2045A>C (p.Asn682Thr) c.787+3639A>C (n.787+3639A>C) c.2066A>C (p.Asn689Thr) | dbSNP |
| 8 | g.54625927A>G | CA370992604 | RP1 | c.2045A>G (p.Asn682Ser) c.787+3639A>G (n.787+3639A>G) c.2066A>G (p.Asn689Ser) | |
| 8 | g.54625927A>T | CA370992605 | RP1 | c.2045A>T (p.Asn682Ile) c.787+3639A>T (n.787+3639A>T) c.2066A>T (p.Asn689Ile) | |
| 8 | g.54625928T>A | CA370992606 | RP1 | c.2046T>A (p.Asn682Lys) c.787+3640T>A (n.787+3640T>A) c.2067T>A (p.Asn689Lys) | |
| 8 | g.54625928T>C | CA461098785 | RP1 | c.2046T>C (p.Asn682=) c.787+3640T>C (n.787+3640T>C) c.2067T>C (p.Asn689=) | gnomAD v4 |
| 8 | g.54625928T>G | CA370992607 | RP1 | c.2046T>G (p.Asn682Lys) c.787+3640T>G (n.787+3640T>G) c.2067T>G (p.Asn689Lys) | |
| 8 | g.54625929T>A | CA370992608 | RP1 | c.2047T>A (p.Ser683Thr) c.787+3641T>A (n.787+3641T>A) c.2068T>A (p.Ser690Thr) | ClinVar dbSNP |
| 8 | g.54625929T>C | CA370992610 | RP1 | c.2047T>C (p.Ser683Pro) c.787+3641T>C (n.787+3641T>C) c.2068T>C (p.Ser690Pro) | |
| 8 | g.54625929T>G | CA370992609 | RP1 | c.2047T>G (p.Ser683Ala) c.787+3641T>G (n.787+3641T>G) c.2068T>G (p.Ser690Ala) | |
| 8 | g.54625930C>A | CA370992611 | RP1 | c.2048C>A (p.Ser683Tyr) c.787+3642C>A (n.787+3642C>A) c.2069C>A (p.Ser690Tyr) | gnomAD v4 |
| 8 | g.54625930C>G | CA370992612 | RP1 | c.2048C>G (p.Ser683Cys) c.787+3642C>G (n.787+3642C>G) c.2069C>G (p.Ser690Cys) | |
| 8 | g.54625930C>T | CA370992613 | RP1 | c.2048C>T (p.Ser683Phe) c.787+3642C>T (n.787+3642C>T) c.2069C>T (p.Ser690Phe) | COSMIC |
| 8 | g.54625931C>A | CA461098788 | RP1 | c.2049C>A (p.Ser683=) c.787+3643C>A (n.787+3643C>A) c.2070C>A (p.Ser690=) | |
| 8 | g.54625931C= | CA1785188091 | RP1 | c.2049C= (p.Ser683=) c.787+3643C= (n.787+3643C=) c.2070C= (p.Ser690=) | |
| 8 | g.54625931C>G | CA461098786 | RP1 | c.2049C>G (p.Ser683=) c.787+3643C>G (n.787+3643C>G) c.2070C>G (p.Ser690=) | |
| 8 | g.54625931C>T | CA461098787 | RP1 | c.2049C>T (p.Ser683=) c.787+3643C>T (n.787+3643C>T) c.2070C>T (p.Ser690=) | dbSNP gnomAD v4 |
| 8 | g.54625932A= | CA1785188092 | RP1 | c.2050A= (p.Arg684=) c.787+3644A= (n.787+3644A=) c.2071A= (p.Arg691=) | |
| 8 | g.54625932A>C | CA461098789 | RP1 | c.2050A>C (p.Arg684=) c.787+3644A>C (n.787+3644A>C) c.2071A>C (p.Arg691=) | |
| 8 | g.54625932A>G | CA370992614 | RP1 | c.2050A>G (p.Arg684Gly) c.787+3644A>G (n.787+3644A>G) c.2071A>G (p.Arg691Gly) | |
| 8 | g.54625932A>T | CA370992615 | RP1 | c.2050A>T (p.Arg684Trp) c.787+3644A>T (n.787+3644A>T) c.2071A>T (p.Arg691Trp) | dbSNP |
| 8 | g.54625933G>A | CA370992616 | RP1 | c.2051G>A (p.Arg684Lys) c.787+3645G>A (n.787+3645G>A) c.2072G>A (p.Arg691Lys) | |
| 8 | g.54625933G>C | CA370992617 | RP1 | c.2051G>C (p.Arg684Thr) c.787+3645G>C (n.787+3645G>C) c.2072G>C (p.Arg691Thr) | gnomAD v4 |
| 8 | g.54625933G>T | CA370992618 | RP1 | c.2051G>T (p.Arg684Met) c.787+3645G>T (n.787+3645G>T) c.2072G>T (p.Arg691Met) | |
| 8 | g.54625934G>A | CA461098790 | RP1 | c.2052G>A (p.Arg684=) c.787+3646G>A (n.787+3646G>A) c.2073G>A (p.Arg691=) | |
| 8 | g.54625934G>C | CA370992619 | RP1 | c.2052G>C (p.Arg684Ser) c.787+3646G>C (n.787+3646G>C) c.2073G>C (p.Arg691Ser) | |
| 8 | g.54625934G>T | CA370992620 | RP1 | c.2052G>T (p.Arg684Ser) c.787+3646G>T (n.787+3646G>T) c.2073G>T (p.Arg691Ser) | |
| 8 | g.54625935del | CA2580078491 | RP1 | c.2053del (p.Tyr685IlefsTer18) c.787+3647del (n.787+3647del) c.2074del (p.Tyr692IlefsTer18) | ClinVar |
| 8 | g.54625935T>A | CA370992621 | RP1 | c.2053T>A (p.Tyr685Asn) c.787+3647T>A (n.787+3647T>A) c.2074T>A (p.Tyr692Asn) | |
| 8 | g.54625935T>C | CA370992622 | RP1 | c.2053T>C (p.Tyr685His) c.787+3647T>C (n.787+3647T>C) c.2074T>C (p.Tyr692His) | |
| 8 | g.54625935T>G | CA370992623 | RP1 | c.2053T>G (p.Tyr685Asp) c.787+3647T>G (n.787+3647T>G) c.2074T>G (p.Tyr692Asp) | |
| 8 | g.54625936A>C | CA370992624 | RP1 | c.2054A>C (p.Tyr685Ser) c.787+3648A>C (n.787+3648A>C) c.2075A>C (p.Tyr692Ser) | |
| 8 | g.54625936A>G | CA370992626 | RP1 | c.2054A>G (p.Tyr685Cys) c.787+3648A>G (n.787+3648A>G) c.2075A>G (p.Tyr692Cys) | |
| 8 | g.54625936A>T | CA370992625 | RP1 | c.2054A>T (p.Tyr685Phe) c.787+3648A>T (n.787+3648A>T) c.2075A>T (p.Tyr692Phe) | |
| 8 | g.54625937T>A | CA370992627 | RP1 | c.2055T>A (p.Tyr685Ter) c.787+3649T>A (n.787+3649T>A) c.2076T>A (p.Tyr692Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54625937T>C | CA461098791 | RP1 | c.2055T>C (p.Tyr685=) c.787+3649T>C (n.787+3649T>C) c.2076T>C (p.Tyr692=) | |
| 8 | g.54625937T>G | CA370992628 | RP1 | c.2055T>G (p.Tyr685Ter) c.787+3649T>G (n.787+3649T>G) c.2076T>G (p.Tyr692Ter) | ClinVar dbSNP |
| 8 | g.54625937T= | CA1785188093 | RP1 | c.2055T= (p.Tyr685=) c.787+3649T= (n.787+3649T=) c.2076T= (p.Tyr692=) | |
| 8 | g.54625938C>A | CA370992629 | RP1 | c.2056C>A (p.Gln686Lys) c.787+3650C>A (n.787+3650C>A) c.2077C>A (p.Gln693Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54625938C= | CA1785188094 | RP1 | c.2056C= (p.Gln686=) c.787+3650C= (n.787+3650C=) c.2077C= (p.Gln693=) | |
| 8 | g.54625938C>G | CA370992630 | RP1 | c.2056C>G (p.Gln686Glu) c.787+3650C>G (n.787+3650C>G) c.2077C>G (p.Gln693Glu) | |
| 8 | g.54625938C>T | CA370992631 | RP1 | c.2056C>T (p.Gln686Ter) c.787+3650C>T (n.787+3650C>T) c.2077C>T (p.Gln693Ter) | ClinVar dbSNP |
| 8 | g.54625939A= | CA1785188095 | RP1 | c.2057A= (p.Gln686=) c.787+3651A= (n.787+3651A=) c.2078A= (p.Gln693=) | |
| 8 | g.54625939A>C | CA370992632 | RP1 | c.2057A>C (p.Gln686Pro) c.787+3651A>C (n.787+3651A>C) c.2078A>C (p.Gln693Pro) | |
| 8 | g.54625939A>G | CA370992633 | RP1 | c.2057A>G (p.Gln686Arg) c.787+3651A>G (n.787+3651A>G) c.2078A>G (p.Gln693Arg) | ClinVar dbSNP |
| 8 | g.54625939A>T | CA370992634 | RP1 | c.2057A>T (p.Gln686Leu) c.787+3651A>T (n.787+3651A>T) c.2078A>T (p.Gln693Leu) | |
| 8 | g.54625940A>C | CA370992635 | RP1 | c.2058A>C (p.Gln686His) c.787+3652A>C (n.787+3652A>C) c.2079A>C (p.Gln693His) | |
| 8 | g.54625940A>G | CA461098793 | RP1 | c.2058A>G (p.Gln686=) c.787+3652A>G (n.787+3652A>G) c.2079A>G (p.Gln693=) | gnomAD v4 |
| 8 | g.54625940A>T | CA370992636 | RP1 | c.2058A>T (p.Gln686His) c.787+3652A>T (n.787+3652A>T) c.2079A>T (p.Gln693His) | |
| 8 | g.54625941G>A | CA370992639 | RP1 | c.2059G>A (p.Asp687Asn) c.787+3653G>A (n.787+3653G>A) c.2080G>A (p.Asp694Asn) | |
| 8 | g.54625941G>C | CA370992638 | RP1 | c.2059G>C (p.Asp687His) c.787+3653G>C (n.787+3653G>C) c.2080G>C (p.Asp694His) | |
| 8 | g.54625941G>T | CA370992637 | RP1 | c.2059G>T (p.Asp687Tyr) c.787+3653G>T (n.787+3653G>T) c.2080G>T (p.Asp694Tyr) | |
| 8 | g.54625942A= | CA1785188096 | RP1 | c.2060A= (p.Asp687=) c.787+3654A= (n.787+3654A=) c.2081A= (p.Asp694=) | |
| 8 | g.54625942A>C | CA4751473 | RP1 | c.2060A>C (p.Asp687Ala) c.787+3654A>C (n.787+3654A>C) c.2081A>C (p.Asp694Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54625942A>G | CA4751472 | RP1 | c.2060A>G (p.Asp687Gly) c.787+3654A>G (n.787+3654A>G) c.2081A>G (p.Asp694Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54625942A>T | CA370992640 | RP1 | c.2060A>T (p.Asp687Val) c.787+3654A>T (n.787+3654A>T) c.2081A>T (p.Asp694Val) | |
| 8 | g.54625943T>A | CA370992641 | RP1 | c.2061T>A (p.Asp687Glu) c.787+3655T>A (n.787+3655T>A) c.2082T>A (p.Asp694Glu) | |
| 8 | g.54625943T>C | CA4751474 | RP1 | c.2061T>C (p.Asp687=) c.787+3655T>C (n.787+3655T>C) c.2082T>C (p.Asp694=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54625943T>G | CA370992642 | RP1 | c.2061T>G (p.Asp687Glu) c.787+3655T>G (n.787+3655T>G) c.2082T>G (p.Asp694Glu) | |
| 8 | g.54625943T= | CA1785188097 | RP1 | c.2061T= (p.Asp687=) c.787+3655T= (n.787+3655T=) c.2082T= (p.Asp694=) | |
| 8 | g.54625944G>A | CA370992643 | RP1 | c.2062G>A (p.Gly688Arg) c.787+3656G>A (n.787+3656G>A) c.2083G>A (p.Gly695Arg) | |
| 8 | g.54625944G>C | CA370992644 | RP1 | c.2062G>C (p.Gly688Arg) c.787+3656G>C (n.787+3656G>C) c.2083G>C (p.Gly695Arg) | |
| 8 | g.54625944G>T | CA370992645 | RP1 | c.2062G>T (p.Gly688Ter) c.787+3656G>T (n.787+3656G>T) c.2083G>T (p.Gly695Ter) | |
| 8 | g.54625945G>A | CA4751475 | RP1 | c.2063G>A (p.Gly688Glu) c.787+3657G>A (n.787+3657G>A) c.2084G>A (p.Gly695Glu) | dbSNP ExAC gnomAD v2 |
| 8 | g.54625945G>C | CA370992646 | RP1 | c.2063G>C (p.Gly688Ala) c.787+3657G>C (n.787+3657G>C) c.2084G>C (p.Gly695Ala) | |
| 8 | g.54625945G= | CA1785188098 | RP1 | c.2063G= (p.Gly688=) c.787+3657G= (n.787+3657G=) c.2084G= (p.Gly695=) | |
| 8 | g.54625945G>T | CA370992647 | RP1 | c.2063G>T (p.Gly688Val) c.787+3657G>T (n.787+3657G>T) c.2084G>T (p.Gly695Val) | ClinVar dbSNP |
| 8 | g.54625945_54625947del | CA2579168458 | RP1 | c.2063_2065del (p.Gly688_Gln689delinsGlu) c.787+3657_787+3659del (n.787+3657_787+3659del) c.2084_2086del (p.Gly695_Gln696delinsGlu) | gnomAD v4 |
| 8 | g.54625946A>C | CA461098795 | RP1 | c.2064A>C (p.Gly688=) c.787+3658A>C (n.787+3658A>C) c.2085A>C (p.Gly695=) | |
| 8 | g.54625946A>G | CA461098796 | RP1 | c.2064A>G (p.Gly688=) c.787+3658A>G (n.787+3658A>G) c.2085A>G (p.Gly695=) | |
| 8 | g.54625946A>T | CA461098797 | RP1 | c.2064A>T (p.Gly688=) c.787+3658A>T (n.787+3658A>T) c.2085A>T (p.Gly695=) | |
| 8 | g.54625947C>A | CA370992648 | RP1 | c.2065C>A (p.Gln689Lys) c.787+3659C>A (n.787+3659C>A) c.2086C>A (p.Gln696Lys) | gnomAD v4 |
| 8 | g.54625947C>G | CA370992649 | RP1 | c.2065C>G (p.Gln689Glu) c.787+3659C>G (n.787+3659C>G) c.2086C>G (p.Gln696Glu) | |
| 8 | g.54625947C>T | CA370992650 | RP1 | c.2065C>T (p.Gln689Ter) c.787+3659C>T (n.787+3659C>T) c.2086C>T (p.Gln696Ter) | ClinVar gnomAD v4 |
| 8 | g.54625948A>C | CA370992653 | RP1 | c.2066A>C (p.Gln689Pro) c.787+3660A>C (n.787+3660A>C) c.2087A>C (p.Gln696Pro) | gnomAD v4 |
| 8 | g.54625948A>G | CA370992651 | RP1 | c.2066A>G (p.Gln689Arg) c.787+3660A>G (n.787+3660A>G) c.2087A>G (p.Gln696Arg) | |
| 8 | g.54625948A>T | CA370992652 | RP1 | c.2066A>T (p.Gln689Leu) c.787+3660A>T (n.787+3660A>T) c.2087A>T (p.Gln696Leu) | |
| 8 | g.54625949G>A | CA461098799 | RP1 | c.2067G>A (p.Gln689=) c.787+3661G>A (n.787+3661G>A) c.2088G>A (p.Gln696=) | |
| 8 | g.54625949G>C | CA370992654 | RP1 | c.2067G>C (p.Gln689His) c.787+3661G>C (n.787+3661G>C) c.2088G>C (p.Gln696His) | |
| 8 | g.54625949G>T | CA370992655 | RP1 | c.2067G>T (p.Gln689His) c.787+3661G>T (n.787+3661G>T) c.2088G>T (p.Gln696His) | |
| 8 | g.54625950C>A | CA370992656 | RP1 | c.2068C>A (p.Leu690Ile) c.787+3662C>A (n.787+3662C>A) c.2089C>A (p.Leu697Ile) | |
| 8 | g.54625950C>G | CA370992657 | RP1 | c.2068C>G (p.Leu690Val) c.787+3662C>G (n.787+3662C>G) c.2089C>G (p.Leu697Val) | |
| 8 | g.54625950C>T | CA370992658 | RP1 | c.2068C>T (p.Leu690Phe) c.787+3662C>T (n.787+3662C>T) c.2089C>T (p.Leu697Phe) | |
| 8 | g.54625951T>A | CA370992659 | RP1 | c.2069T>A (p.Leu690His) c.787+3663T>A (n.787+3663T>A) c.2090T>A (p.Leu697His) | |
| 8 | g.54625951T>C | CA370992660 | RP1 | c.2069T>C (p.Leu690Pro) c.787+3663T>C (n.787+3663T>C) c.2090T>C (p.Leu697Pro) | |
| 8 | g.54625951T>G | CA370992661 | RP1 | c.2069T>G (p.Leu690Arg) c.787+3663T>G (n.787+3663T>G) c.2090T>G (p.Leu697Arg) | |
| 8 | g.54625952T>A | CA461098800 | RP1 | c.2070T>A (p.Leu690=) c.787+3664T>A (n.787+3664T>A) c.2091T>A (p.Leu697=) | |
| 8 | g.54625952T>C | CA461098802 | RP1 | c.2070T>C (p.Leu690=) c.787+3664T>C (n.787+3664T>C) c.2091T>C (p.Leu697=) | |
| 8 | g.54625952T>G | CA461098801 | RP1 | c.2070T>G (p.Leu690=) c.787+3664T>G (n.787+3664T>G) c.2091T>G (p.Leu697=) | |
| 8 | g.54625953G>A | CA370992662 | RP1 | c.2071G>A (p.Ala691Thr) c.787+3665G>A (n.787+3665G>A) c.2092G>A (p.Ala698Thr) | |
| 8 | g.54625953G>C | CA370992663 | RP1 | c.2071G>C (p.Ala691Pro) c.787+3665G>C (n.787+3665G>C) c.2092G>C (p.Ala698Pro) | |
| 8 | g.54625953G>T | CA370992664 | RP1 | c.2071G>T (p.Ala691Ser) c.787+3665G>T (n.787+3665G>T) c.2092G>T (p.Ala698Ser) | ClinVar dbSNP |
| 8 | g.54625954del | CA2573143219 | RP1 | c.2072del (p.Ala691GlufsTer12) c.787+3666del (n.787+3666del) c.2093del (p.Ala698GlufsTer12) | ClinVar dbSNP |
| 8 | g.54625954C>A | CA370992666 | RP1 | c.2072C>A (p.Ala691Glu) c.787+3666C>A (n.787+3666C>A) c.2093C>A (p.Ala698Glu) | gnomAD v4 |
| 8 | g.54625954C>G | CA370992667 | RP1 | c.2072C>G (p.Ala691Gly) c.787+3666C>G (n.787+3666C>G) c.2093C>G (p.Ala698Gly) | |
| 8 | g.54625954C>T | CA370992665 | RP1 | c.2072C>T (p.Ala691Val) c.787+3666C>T (n.787+3666C>T) c.2093C>T (p.Ala698Val) | gnomAD v4 |
| 8 | g.54625955A>C | CA461098806 | RP1 | c.2073A>C (p.Ala691=) c.787+3667A>C (n.787+3667A>C) c.2094A>C (p.Ala698=) | |
| 8 | g.54625955A>G | CA461098807 | RP1 | c.2073A>G (p.Ala691=) c.787+3667A>G (n.787+3667A>G) c.2094A>G (p.Ala698=) | |
| 8 | g.54625955A>T | CA461098808 | RP1 | c.2073A>T (p.Ala691=) c.787+3667A>T (n.787+3667A>T) c.2094A>T (p.Ala698=) | |
| 8 | g.54625956A>C | CA370992668 | RP1 | c.2074A>C (p.Thr692Pro) c.787+3668A>C (n.787+3668A>C) c.2095A>C (p.Thr699Pro) | |
| 8 | g.54625956A>G | CA370992669 | RP1 | c.2074A>G (p.Thr692Ala) c.787+3668A>G (n.787+3668A>G) c.2095A>G (p.Thr699Ala) | gnomAD v4 |
| 8 | g.54625956A>T | CA370992670 | RP1 | c.2074A>T (p.Thr692Ser) c.787+3668A>T (n.787+3668A>T) c.2095A>T (p.Thr699Ser) | |
| 8 | g.54625957C>A | CA370992671 | RP1 | c.2075C>A (p.Thr692Asn) c.787+3669C>A (n.787+3669C>A) c.2096C>A (p.Thr699Asn) | |
| 8 | g.54625957C>G | CA370992672 | RP1 | c.2075C>G (p.Thr692Ser) c.787+3669C>G (n.787+3669C>G) c.2096C>G (p.Thr699Ser) | |
| 8 | g.54625957C>T | CA370992673 | RP1 | c.2075C>T (p.Thr692Ile) c.787+3669C>T (n.787+3669C>T) c.2096C>T (p.Thr699Ile) | |
| 8 | g.54625958C>A | CA461098809 | RP1 | c.2076C>A (p.Thr692=) c.787+3670C>A (n.787+3670C>A) c.2097C>A (p.Thr699=) | |
| 8 | g.54625958C>G | CA461098810 | RP1 | c.2076C>G (p.Thr692=) c.787+3670C>G (n.787+3670C>G) c.2097C>G (p.Thr699=) | |
| 8 | g.54625958C>T | CA461098812 | RP1 | c.2076C>T (p.Thr692=) c.787+3670C>T (n.787+3670C>T) c.2097C>T (p.Thr699=) | |
| 8 | g.54625959A= | CA1785188099 | RP1 | c.2077A= (p.Lys693=) c.787+3671A= (n.787+3671A=) c.2098A= (p.Lys700=) | |
| 8 | g.54625959A>C | CA370992676 | RP1 | c.2077A>C (p.Lys693Gln) c.787+3671A>C (n.787+3671A>C) c.2098A>C (p.Lys700Gln) | gnomAD v4 |
| 8 | g.54625959A>G | CA370992674 | RP1 | c.2077A>G (p.Lys693Glu) c.787+3671A>G (n.787+3671A>G) c.2098A>G (p.Lys700Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54625959A>T | CA370992675 | RP1 | c.2077A>T (p.Lys693Ter) c.787+3671A>T (n.787+3671A>T) c.2098A>T (p.Lys700Ter) | ClinVar |
| 8 | g.54625961del | CA2499219347 | RP1 | c.2079del (p.Gly694GlufsTer9) c.787+3673del (n.787+3673del) c.2100del (p.Gly701GlufsTer9) | ClinVar dbSNP |
| 8 | g.54625960A>C | CA370992677 | RP1 | c.2078A>C (p.Lys693Thr) c.787+3672A>C (n.787+3672A>C) c.2099A>C (p.Lys700Thr) | |
| 8 | g.54625960A>G | CA370992678 | RP1 | c.2078A>G (p.Lys693Arg) c.787+3672A>G (n.787+3672A>G) c.2099A>G (p.Lys700Arg) | |
| 8 | g.54625960A>T | CA370992679 | RP1 | c.2078A>T (p.Lys693Ile) c.787+3672A>T (n.787+3672A>T) c.2099A>T (p.Lys700Ile) | |
| 8 | g.54625961A>C | CA370992680 | RP1 | c.2079A>C (p.Lys693Asn) c.787+3673A>C (n.787+3673A>C) c.2100A>C (p.Lys700Asn) | |
| 8 | g.54625961A>G | CA461098813 | RP1 | c.2079A>G (p.Lys693=) c.787+3673A>G (n.787+3673A>G) c.2100A>G (p.Lys700=) | |
| 8 | g.54625961A>T | CA370992681 | RP1 | c.2079A>T (p.Lys693Asn) c.787+3673A>T (n.787+3673A>T) c.2100A>T (p.Lys700Asn) | |
| 8 | g.54625962G>A | CA370992682 | RP1 | c.2080G>A (p.Gly694Arg) c.787+3674G>A (n.787+3674G>A) c.2101G>A (p.Gly701Arg) | |
| 8 | g.54625962G>C | CA370992684 | RP1 | c.2080G>C (p.Gly694Arg) c.787+3674G>C (n.787+3674G>C) c.2101G>C (p.Gly701Arg) | |
| 8 | g.54625962G>T | CA370992683 | RP1 | c.2080G>T (p.Gly694Ter) c.787+3674G>T (n.787+3674G>T) c.2101G>T (p.Gly701Ter) | |
| 8 | g.54625963G>A | CA370992685 | RP1 | c.2081G>A (p.Gly694Glu) c.787+3675G>A (n.787+3675G>A) c.2102G>A (p.Gly701Glu) | |
| 8 | g.54625963G>C | CA370992686 | RP1 | c.2081G>C (p.Gly694Ala) c.787+3675G>C (n.787+3675G>C) c.2102G>C (p.Gly701Ala) | |
| 8 | g.54625963G>T | CA370992687 | RP1 | c.2081G>T (p.Gly694Val) c.787+3675G>T (n.787+3675G>T) c.2102G>T (p.Gly701Val) | |
| 8 | g.54625963_54625964delinsGA | CA1785188100 | RP1 | c.2081_2082delinsGA (p.Gly694=) c.787+3675_787+3676delinsGA (n.787+3675_787+3676delinsGA) c.2102_2103delinsGA (p.Gly701=) | |
| 8 | g.54625964A>C | CA461098815 | RP1 | c.2082A>C (p.Gly694=) c.787+3676A>C (n.787+3676A>C) c.2103A>C (p.Gly701=) | |
| 8 | g.54625964A>G | CA461098817 | RP1 | c.2082A>G (p.Gly694=) c.787+3676A>G (n.787+3676A>G) c.2103A>G (p.Gly701=) | gnomAD v4 |
| 8 | g.54625964A>T | CA461098816 | RP1 | c.2082A>T (p.Gly694=) c.787+3676A>T (n.787+3676A>T) c.2103A>T (p.Gly701=) | |
| 8 | g.54625965del | CA645509465 | RP1 | c.2083del (p.Ile695PhefsTer8) c.787+3677del (n.787+3677del) c.2104del (p.Ile702PhefsTer8) | ClinVar dbSNP |
| 8 | g.54625965A>C | CA370992688 | RP1 | c.2083A>C (p.Ile695Leu) c.787+3677A>C (n.787+3677A>C) c.2104A>C (p.Ile702Leu) | |
| 8 | g.54625965A>G | CA370992689 | RP1 | c.2083A>G (p.Ile695Val) c.787+3677A>G (n.787+3677A>G) c.2104A>G (p.Ile702Val) | |
| 8 | g.54625965A>T | CA370992690 | RP1 | c.2083A>T (p.Ile695Phe) c.787+3677A>T (n.787+3677A>T) c.2104A>T (p.Ile702Phe) | gnomAD v4 |
| 8 | g.54625966T>A | CA370992691 | RP1 | c.2084T>A (p.Ile695Asn) c.787+3678T>A (n.787+3678T>A) c.2105T>A (p.Ile702Asn) | |
| 8 | g.54625966T>C | CA370992692 | RP1 | c.2084T>C (p.Ile695Thr) c.787+3678T>C (n.787+3678T>C) c.2105T>C (p.Ile702Thr) | |
| 8 | g.54625966T>G | CA370992693 | RP1 | c.2084T>G (p.Ile695Ser) c.787+3678T>G (n.787+3678T>G) c.2105T>G (p.Ile702Ser) | |
| 8 | g.54625967T>A | CA461098818 | RP1 | c.2085T>A (p.Ile695=) c.787+3679T>A (n.787+3679T>A) c.2106T>A (p.Ile702=) | |
| 8 | g.54625967T>C | CA461098819 | RP1 | c.2085T>C (p.Ile695=) c.787+3679T>C (n.787+3679T>C) c.2106T>C (p.Ile702=) | |
| 8 | g.54625967T>G | CA370992694 | RP1 | c.2085T>G (p.Ile695Met) c.787+3679T>G (n.787+3679T>G) c.2106T>G (p.Ile702Met) | |
| 8 | g.54625968C>A | CA370992695 | RP1 | c.2086C>A (p.Leu696Ile) c.787+3680C>A (n.787+3680C>A) c.2107C>A (p.Leu703Ile) | |
| 8 | g.54625968C>G | CA370992696 | RP1 | c.2086C>G (p.Leu696Val) c.787+3680C>G (n.787+3680C>G) c.2107C>G (p.Leu703Val) | |
| 8 | g.54625968C>T | CA370992697 | RP1 | c.2086C>T (p.Leu696Phe) c.787+3680C>T (n.787+3680C>T) c.2107C>T (p.Leu703Phe) | |
| 8 | g.54625969T>A | CA370992700 | RP1 | c.2087T>A (p.Leu696His) c.787+3681T>A (n.787+3681T>A) c.2108T>A (p.Leu703His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54625969T>C | CA370992699 | RP1 | c.2087T>C (p.Leu696Pro) c.787+3681T>C (n.787+3681T>C) c.2108T>C (p.Leu703Pro) | |
| 8 | g.54625969T>G | CA370992698 | RP1 | c.2087T>G (p.Leu696Arg) c.787+3681T>G (n.787+3681T>G) c.2108T>G (p.Leu703Arg) | |
| 8 | g.54625969T= | CA1785188101 | RP1 | c.2087T= (p.Leu696=) c.787+3681T= (n.787+3681T=) c.2108T= (p.Leu703=) | |
| 8 | g.54625970T>A | CA461098821 | RP1 | c.2088T>A (p.Leu696=) c.787+3682T>A (n.787+3682T>A) c.2109T>A (p.Leu703=) | |
| 8 | g.54625970T>C | CA461098822 | RP1 | c.2088T>C (p.Leu696=) c.787+3682T>C (n.787+3682T>C) c.2109T>C (p.Leu703=) | |
| 8 | g.54625970T>G | CA461098823 | RP1 | c.2088T>G (p.Leu696=) c.787+3682T>G (n.787+3682T>G) c.2109T>G (p.Leu703=) | |
| 8 | g.54625971A>C | CA370992701 | RP1 | c.2089A>C (p.Asn697His) c.787+3683A>C (n.787+3683A>C) c.2110A>C (p.Asn704His) | |
| 8 | g.54625971A>G | CA370992702 | RP1 | c.2089A>G (p.Asn697Asp) c.787+3683A>G (n.787+3683A>G) c.2110A>G (p.Asn704Asp) | |
| 8 | g.54625971A>T | CA370992703 | RP1 | c.2089A>T (p.Asn697Tyr) c.787+3683A>T (n.787+3683A>T) c.2110A>T (p.Asn704Tyr) | |
| 8 | g.54625974_54625979del | CA2780387008 | RP1 | c.2092_2097del (p.Lys698_Asn699del) c.787+3686_787+3691del (n.787+3686_787+3691del) c.2113_2118del (p.Lys705_Asn706del) | |
| 8 | g.54625972A= | CA1785188102 | RP1 | c.2090A= (p.Asn697=) c.787+3684A= (n.787+3684A=) c.2111A= (p.Asn704=) | |
| 8 | g.54625972A>C | CA370992704 | RP1 | c.2090A>C (p.Asn697Thr) c.787+3684A>C (n.787+3684A>C) c.2111A>C (p.Asn704Thr) | |
| 8 | g.54625972A>G | CA370992705 | RP1 | c.2090A>G (p.Asn697Ser) c.787+3684A>G (n.787+3684A>G) c.2111A>G (p.Asn704Ser) | |
| 8 | g.54625972A>T | CA4751476 | RP1 | c.2090A>T (p.Asn697Ile) c.787+3684A>T (n.787+3684A>T) c.2111A>T (p.Asn704Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.54625973T>A | CA370992706 | RP1 | c.2091T>A (p.Asn697Lys) c.787+3685T>A (n.787+3685T>A) c.2112T>A (p.Asn704Lys) | |
| 8 | g.54625973T>C | CA461098825 | RP1 | c.2091T>C (p.Asn697=) c.787+3685T>C (n.787+3685T>C) c.2112T>C (p.Asn704=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54625973T>G | CA370992707 | RP1 | c.2091T>G (p.Asn697Lys) c.787+3685T>G (n.787+3685T>G) c.2112T>G (p.Asn704Lys) | |
| 8 | g.54625973T= | CA1785188103 | RP1 | c.2091T= (p.Asn697=) c.787+3685T= (n.787+3685T=) c.2112T= (p.Asn704=) | |
| 8 | g.54625974A>C | CA370992708 | RP1 | c.2092A>C (p.Lys698Gln) c.787+3686A>C (n.787+3686A>C) c.2113A>C (p.Lys705Gln) | |
| 8 | g.54625974A>G | CA370992709 | RP1 | c.2092A>G (p.Lys698Glu) c.787+3686A>G (n.787+3686A>G) c.2113A>G (p.Lys705Glu) | gnomAD v4 |
| 8 | g.54625974A>T | CA370992710 | RP1 | c.2092A>T (p.Lys698Ter) c.787+3686A>T (n.787+3686A>T) c.2113A>T (p.Lys705Ter) | |
| 8 | g.54625974_54625975delinsTCTT | CA916079845 | RP1 | c.2092_2093delinsTCTT (p.Lys698SerfsTer2) c.787+3686_787+3687delinsTCTT (n.787+3686_787+3687delinsTCTT) c.2113_2114delinsTCTT (p.Lys705SerfsTer2) | ClinVar dbSNP |
| 8 | g.54625975A>C | CA370992711 | RP1 | c.2093A>C (p.Lys698Thr) c.787+3687A>C (n.787+3687A>C) c.2114A>C (p.Lys705Thr) | |
| 8 | g.54625975A>G | CA370992712 | RP1 | c.2093A>G (p.Lys698Arg) c.787+3687A>G (n.787+3687A>G) c.2114A>G (p.Lys705Arg) | |
| 8 | g.54625975A>T | CA370992713 | RP1 | c.2093A>T (p.Lys698Met) c.787+3687A>T (n.787+3687A>T) c.2114A>T (p.Lys705Met) | |
| 8 | g.54625976G>A | CA461098826 | RP1 | c.2094G>A (p.Lys698=) c.787+3688G>A (n.787+3688G>A) c.2115G>A (p.Lys705=) | |
| 8 | g.54625976G>C | CA370992715 | RP1 | c.2094G>C (p.Lys698Asn) c.787+3688G>C (n.787+3688G>C) c.2115G>C (p.Lys705Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54625976G= | CA1785188104 | RP1 | c.2094G= (p.Lys698=) c.787+3688G= (n.787+3688G=) c.2115G= (p.Lys705=) | |
| 8 | g.54625976G>T | CA370992714 | RP1 | c.2094G>T (p.Lys698Asn) c.787+3688G>T (n.787+3688G>T) c.2115G>T (p.Lys705Asn) | |
| 8 | g.54625977A>C | CA370992716 | RP1 | c.2095A>C (p.Asn699His) c.787+3689A>C (n.787+3689A>C) c.2116A>C (p.Asn706His) | |
| 8 | g.54625977A>G | CA370992717 | RP1 | c.2095A>G (p.Asn699Asp) c.787+3689A>G (n.787+3689A>G) c.2116A>G (p.Asn706Asp) | |
| 8 | g.54625977A>T | CA370992718 | RP1 | c.2095A>T (p.Asn699Tyr) c.787+3689A>T (n.787+3689A>T) c.2116A>T (p.Asn706Tyr) | |
| 8 | g.54625978A= | CA1785188105 | RP1 | c.2096A= (p.Asn699=) c.787+3690A= (n.787+3690A=) c.2117A= (p.Asn706=) | |
| 8 | g.54625978A>C | CA370992719 | RP1 | c.2096A>C (p.Asn699Thr) c.787+3690A>C (n.787+3690A>C) c.2117A>C (p.Asn706Thr) | |
| 8 | g.54625978A>G | CA177237009 | RP1 | c.2096A>G (p.Asn699Ser) c.787+3690A>G (n.787+3690A>G) c.2117A>G (p.Asn706Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54625978A>T | CA370992720 | RP1 | c.2096A>T (p.Asn699Ile) c.787+3690A>T (n.787+3690A>T) c.2117A>T (p.Asn706Ile) |