| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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) | |
| 8 | g.54625979T>A | CA177237012 | RP1 | c.2097T>A (p.Asn699Lys) c.787+3691T>A (n.787+3691T>A) c.2118T>A (p.Asn706Lys) | dbSNP gnomAD v4 |
| 8 | g.54625979T>C | CA461098827 | RP1 | c.2097T>C (p.Asn699=) c.787+3691T>C (n.787+3691T>C) c.2118T>C (p.Asn706=) | |
| 8 | g.54625979T>G | CA370992721 | RP1 | c.2097T>G (p.Asn699Lys) c.787+3691T>G (n.787+3691T>G) c.2118T>G (p.Asn706Lys) | |
| 8 | g.54625979T= | CA1785188106 | RP1 | c.2097T= (p.Asn699=) c.787+3691T= (n.787+3691T=) c.2118T= (p.Asn706=) | |
| 8 | g.54625980G>A | CA370992722 | RP1 | c.2098G>A (p.Glu700Lys) c.787+3692G>A (n.787+3692G>A) c.2119G>A (p.Glu707Lys) | |
| 8 | g.54625980G>C | CA370992723 | RP1 | c.2098G>C (p.Glu700Gln) c.787+3692G>C (n.787+3692G>C) c.2119G>C (p.Glu707Gln) | |
| 8 | g.54625980G>T | CA370992724 | RP1 | c.2098G>T (p.Glu700Ter) c.787+3692G>T (n.787+3692G>T) c.2119G>T (p.Glu707Ter) | |
| 8 | g.54625984_54625985del | CA2695209263 | RP1 | c.2102_2103del (p.Arg701AsnfsTer6) c.787+3696_787+3697del (n.787+3696_787+3697del) c.2123_2124del (p.Arg708AsnfsTer6) | |
| 8 | g.54625981A>C | CA370992725 | RP1 | c.2099A>C (p.Glu700Ala) c.787+3693A>C (n.787+3693A>C) c.2120A>C (p.Glu707Ala) | |
| 8 | g.54625981A>G | CA370992726 | RP1 | c.2099A>G (p.Glu700Gly) c.787+3693A>G (n.787+3693A>G) c.2120A>G (p.Glu707Gly) | |
| 8 | g.54625981A>T | CA370992727 | RP1 | c.2099A>T (p.Glu700Val) c.787+3693A>T (n.787+3693A>T) c.2120A>T (p.Glu707Val) | |
| 8 | g.54625982G>A | CA4751477 | RP1 | c.2100G>A (p.Glu700=) c.787+3694G>A (n.787+3694G>A) c.2121G>A (p.Glu707=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54625982G>C | CA370992728 | RP1 | c.2100G>C (p.Glu700Asp) c.787+3694G>C (n.787+3694G>C) c.2121G>C (p.Glu707Asp) | gnomAD v4 |
| 8 | g.54625982G= | CA1785188107 | RP1 | c.2100G= (p.Glu700=) c.787+3694G= (n.787+3694G=) c.2121G= (p.Glu707=) | |
| 8 | g.54625982G>T | CA370992729 | RP1 | c.2100G>T (p.Glu700Asp) c.787+3694G>T (n.787+3694G>T) c.2121G>T (p.Glu707Asp) | |
| 8 | g.54625983A>C | CA461098615 | RP1 | c.2101A>C (p.Arg701=) c.787+3695A>C (n.787+3695A>C) c.2122A>C (p.Arg708=) | |
| 8 | g.54625983A>G | CA370992730 | RP1 | c.2101A>G (p.Arg701Gly) c.787+3695A>G (n.787+3695A>G) c.2122A>G (p.Arg708Gly) | gnomAD v4 |
| 8 | g.54625983A>T | CA370992731 | RP1 | c.2101A>T (p.Arg701Ter) c.787+3695A>T (n.787+3695A>T) c.2122A>T (p.Arg708Ter) | |
| 8 | g.54625984G>A | CA4751478 | RP1 | c.2102G>A (p.Arg701Lys) c.787+3696G>A (n.787+3696G>A) c.2123G>A (p.Arg708Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54625984G>C | CA370992732 | RP1 | c.2102G>C (p.Arg701Thr) c.787+3696G>C (n.787+3696G>C) c.2123G>C (p.Arg708Thr) | |
| 8 | g.54625984G= | CA1785188108 | RP1 | c.2102G= (p.Arg701=) c.787+3696G= (n.787+3696G=) c.2123G= (p.Arg708=) | |
| 8 | g.54625984G>T | CA370992733 | RP1 | c.2102G>T (p.Arg701Ile) c.787+3696G>T (n.787+3696G>T) c.2123G>T (p.Arg708Ile) | |
| 8 | g.54625984_54625988delinsGAATA | CA1785188109 | RP1 | c.2102_2106delinsGAATA (p.Arg701=) c.787+3696_787+3700delinsGAATA (n.787+3696_787+3700delinsGAATA) c.2123_2127delinsGAATA (p.Arg708=) | |
| 8 | g.54625985A>C | CA370992734 | RP1 | c.2103A>C (p.Arg701Ser) c.787+3697A>C (n.787+3697A>C) c.2124A>C (p.Arg708Ser) | |
| 8 | g.54625985A>G | CA461098616 | RP1 | c.2103A>G (p.Arg701=) c.787+3697A>G (n.787+3697A>G) c.2124A>G (p.Arg708=) | |
| 8 | g.54625985A>T | CA370992735 | RP1 | c.2103A>T (p.Arg701Ser) c.787+3697A>T (n.787+3697A>T) c.2124A>T (p.Arg708Ser) | |
| 8 | g.54625985_54625986del | CA2580078492 | RP1 | c.2103_2104del (p.Arg701SerfsTer6) c.787+3697_787+3698del (n.787+3697_787+3698del) c.2124_2125del (p.Arg708SerfsTer6) | ClinVar |
| 8 | g.54625987_54625990del | CA916082988 | RP1 | c.2105_2108del (p.Ile702ThrfsTer10) c.787+3699_787+3702del (n.787+3699_787+3702del) c.2126_2129del (p.Ile709ThrfsTer10) | ClinVar dbSNP |
| 8 | g.54625986A>C | CA370992736 | RP1 | c.2104A>C (p.Ile702Leu) c.787+3698A>C (n.787+3698A>C) c.2125A>C (p.Ile709Leu) | |
| 8 | g.54625986A>G | CA370992738 | RP1 | c.2104A>G (p.Ile702Val) c.787+3698A>G (n.787+3698A>G) c.2125A>G (p.Ile709Val) | |
| 8 | g.54625986A>T | CA370992737 | RP1 | c.2104A>T (p.Ile702Leu) c.787+3698A>T (n.787+3698A>T) c.2125A>T (p.Ile709Leu) | |
| 8 | g.54625987T>A | CA370992739 | RP1 | c.2105T>A (p.Ile702Lys) c.787+3699T>A (n.787+3699T>A) c.2126T>A (p.Ile709Lys) | |
| 8 | g.54625987T>C | CA370992740 | RP1 | c.2105T>C (p.Ile702Thr) c.787+3699T>C (n.787+3699T>C) c.2126T>C (p.Ile709Thr) | |
| 8 | g.54625987T>G | CA370992741 | RP1 | c.2105T>G (p.Ile702Arg) c.787+3699T>G (n.787+3699T>G) c.2126T>G (p.Ile709Arg) | |
| 8 | g.54625987_54625988delinsTA | CA1785188110 | RP1 | c.2105_2106delinsTA (p.Ile702=) c.787+3699_787+3700delinsTA (n.787+3699_787+3700delinsTA) c.2126_2127delinsTA (p.Ile709=) | |
| 8 | g.54625987_54625988insG | CA2499219348 | RP1 | c.2105_2106insG (p.Ile702MetfsTer6) c.787+3699_787+3700insG (n.787+3699_787+3700insG) c.2126_2127insG (p.Ile709MetfsTer6) | ClinVar dbSNP |
| 8 | g.54625988A>C | CA461098618 | RP1 | c.2106A>C (p.Ile702=) c.787+3700A>C (n.787+3700A>C) c.2127A>C (p.Ile709=) | |
| 8 | g.54625988A>G | CA370992742 | RP1 | c.2106A>G (p.Ile702Met) c.787+3700A>G (n.787+3700A>G) c.2127A>G (p.Ile709Met) | |
| 8 | g.54625988A>T | CA461098619 | RP1 | c.2106A>T (p.Ile702=) c.787+3700A>T (n.787+3700A>T) c.2127A>T (p.Ile709=) | |
| 8 | g.54625989_54625990dup | CA2695209264 | RP1 | c.2107_2108dup (p.Asn703LysfsTer11) c.787+3701_787+3702dup (n.787+3701_787+3702dup) c.2128_2129dup (p.Asn710LysfsTer11) | |
| 8 | g.54625990del | CA1139660531 | RP1 | c.2108del (p.Asn703ThrfsTer10) c.787+3702del (n.787+3702del) c.2129del (p.Asn710ThrfsTer10) | ClinVar dbSNP |
| 8 | g.54625989A>C | CA370992743 | RP1 | c.2107A>C (p.Asn703His) c.787+3701A>C (n.787+3701A>C) c.2128A>C (p.Asn710His) | COSMIC |
| 8 | g.54625989A>G | CA370992745 | RP1 | c.2107A>G (p.Asn703Asp) c.787+3701A>G (n.787+3701A>G) c.2128A>G (p.Asn710Asp) | |
| 8 | g.54625989A>T | CA370992744 | RP1 | c.2107A>T (p.Asn703Tyr) c.787+3701A>T (n.787+3701A>T) c.2128A>T (p.Asn710Tyr) | |
| 8 | g.54625990A>C | CA370992746 | RP1 | c.2108A>C (p.Asn703Thr) c.787+3702A>C (n.787+3702A>C) c.2129A>C (p.Asn710Thr) | |
| 8 | g.54625990A>G | CA370992747 | RP1 | c.2108A>G (p.Asn703Ser) c.787+3702A>G (n.787+3702A>G) c.2129A>G (p.Asn710Ser) | |
| 8 | g.54625990A>T | CA370992748 | RP1 | c.2108A>T (p.Asn703Ile) c.787+3702A>T (n.787+3702A>T) c.2129A>T (p.Asn710Ile) | |
| 8 | g.54625991C>A | CA370992749 | RP1 | c.2109C>A (p.Asn703Lys) c.787+3703C>A (n.787+3703C>A) c.2130C>A (p.Asn710Lys) | |
| 8 | g.54625991C= | CA1785188111 | RP1 | c.2109C= (p.Asn703=) c.787+3703C= (n.787+3703C=) c.2130C= (p.Asn710=) | |
| 8 | g.54625991C>G | CA370992750 | RP1 | c.2109C>G (p.Asn703Lys) c.787+3703C>G (n.787+3703C>G) c.2130C>G (p.Asn710Lys) | |
| 8 | g.54625991C>T | CA461098622 | RP1 | c.2109C>T (p.Asn703=) c.787+3703C>T (n.787+3703C>T) c.2130C>T (p.Asn710=) | dbSNP |
| 8 | g.54625991_54625992delinsCA | CA1785188112 | RP1 | c.2109_2110delinsCA (p.Asn703=) c.787+3703_787+3704delinsCA (n.787+3703_787+3704delinsCA) c.2130_2131delinsCA (p.Asn710=) | |
| 8 | g.54625992del | CA1139660532 | RP1 | c.2110del (p.Thr704GlnfsTer9) c.787+3704del (n.787+3704del) c.2131del (p.Thr711GlnfsTer9) | ClinVar dbSNP |
| 8 | g.54625992A>C | CA370992751 | RP1 | c.2110A>C (p.Thr704Pro) c.787+3704A>C (n.787+3704A>C) c.2131A>C (p.Thr711Pro) | gnomAD v4 |
| 8 | g.54625992A>G | CA370992752 | RP1 | c.2110A>G (p.Thr704Ala) c.787+3704A>G (n.787+3704A>G) c.2131A>G (p.Thr711Ala) | gnomAD v4 |
| 8 | g.54625992A>T | CA370992753 | RP1 | c.2110A>T (p.Thr704Ser) c.787+3704A>T (n.787+3704A>T) c.2131A>T (p.Thr711Ser) | |
| 8 | g.54625997_54626011del | CA2717224128 | RP1 | c.2115_2129del (p.Gly706_Lys710del) c.787+3709_787+3723del (n.787+3709_787+3723del) c.2136_2150del (p.Gly713_Lys717del) | dbSNP |
| 8 | g.54625993C>A | CA370992754 | RP1 | c.2111C>A (p.Thr704Lys) c.787+3705C>A (n.787+3705C>A) c.2132C>A (p.Thr711Lys) | |
| 8 | g.54625993C>G | CA370992755 | RP1 | c.2111C>G (p.Thr704Arg) c.787+3705C>G (n.787+3705C>G) c.2132C>G (p.Thr711Arg) | |
| 8 | g.54625993C>T | CA370992756 | RP1 | c.2111C>T (p.Thr704Ile) c.787+3705C>T (n.787+3705C>T) c.2132C>T (p.Thr711Ile) | |
| 8 | g.54625993_54625994delinsCA | CA1785188113 | RP1 | c.2111_2112delinsCA (p.Thr704=) c.787+3705_787+3706delinsCA (n.787+3705_787+3706delinsCA) c.2132_2133delinsCA (p.Thr711=) | |
| 8 | g.54625994A>C | CA461098625 | RP1 | c.2112A>C (p.Thr704=) c.787+3706A>C (n.787+3706A>C) c.2133A>C (p.Thr711=) | |
| 8 | g.54625994A>G | CA461098628 | RP1 | c.2112A>G (p.Thr704=) c.787+3706A>G (n.787+3706A>G) c.2133A>G (p.Thr711=) | |
| 8 | g.54625994A>T | CA461098626 | RP1 | c.2112A>T (p.Thr704=) c.787+3706A>T (n.787+3706A>T) c.2133A>T (p.Thr711=) | |
| 8 | g.54625997del | CA915945688 | RP1 | c.2115del (p.Gly706ValfsTer7) c.787+3709del (n.787+3709del) c.2136del (p.Gly713ValfsTer7) | ClinVar dbSNP |
| 8 | g.54625995A= | CA1785188114 | RP1 | c.2113A= (p.Lys705=) c.787+3707A= (n.787+3707A=) c.2134A= (p.Lys712=) | |
| 8 | g.54625995A>C | CA370992759 | RP1 | c.2113A>C (p.Lys705Gln) c.787+3707A>C (n.787+3707A>C) c.2134A>C (p.Lys712Gln) | |
| 8 | g.54625995A>G | CA370992757 | RP1 | c.2113A>G (p.Lys705Glu) c.787+3707A>G (n.787+3707A>G) c.2134A>G (p.Lys712Glu) | gnomAD v4 |
| 8 | g.54625995A>T | CA370992758 | RP1 | c.2113A>T (p.Lys705Ter) c.787+3707A>T (n.787+3707A>T) c.2134A>T (p.Lys712Ter) | ClinVar dbSNP |
| 8 | g.54625996A>C | CA370992760 | RP1 | c.2114A>C (p.Lys705Thr) c.787+3708A>C (n.787+3708A>C) c.2135A>C (p.Lys712Thr) | |
| 8 | g.54625996A>G | CA370992762 | RP1 | c.2114A>G (p.Lys705Arg) c.787+3708A>G (n.787+3708A>G) c.2135A>G (p.Lys712Arg) | |
| 8 | g.54625996A>T | CA370992761 | RP1 | c.2114A>T (p.Lys705Ile) c.787+3708A>T (n.787+3708A>T) c.2135A>T (p.Lys712Ile) | |
| 8 | g.54625997A>C | CA370992763 | RP1 | c.2115A>C (p.Lys705Asn) c.787+3709A>C (n.787+3709A>C) c.2136A>C (p.Lys712Asn) | |
| 8 | g.54625997A>G | CA461098629 | RP1 | c.2115A>G (p.Lys705=) c.787+3709A>G (n.787+3709A>G) c.2136A>G (p.Lys712=) | |
| 8 | g.54625997A>T | CA370992764 | RP1 | c.2115A>T (p.Lys705Asn) c.787+3709A>T (n.787+3709A>T) c.2136A>T (p.Lys712Asn) | |
| 8 | g.54625998G>A | CA370992765 | RP1 | c.2116G>A (p.Gly706Ser) c.787+3710G>A (n.787+3710G>A) c.2137G>A (p.Gly713Ser) | |
| 8 | g.54625998G>C | CA4751479 | RP1 | c.2116G>C (p.Gly706Arg) c.787+3710G>C (n.787+3710G>C) c.2137G>C (p.Gly713Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54625998G= | CA1785188115 | RP1 | c.2116G= (p.Gly706=) c.787+3710G= (n.787+3710G=) c.2137G= (p.Gly713=) | |
| 8 | g.54625998G>T | CA370992766 | RP1 | c.2116G>T (p.Gly706Cys) c.787+3710G>T (n.787+3710G>T) c.2137G>T (p.Gly713Cys) | COSMIC |
| 8 | g.54625999del | CA2695209265 | RP1 | c.2117del (p.Gly706ValfsTer7) c.787+3711del (n.787+3711del) c.2138del (p.Gly713ValfsTer7) | |
| 8 | g.54625999G>A | CA370992767 | RP1 | c.2117G>A (p.Gly706Asp) c.787+3711G>A (n.787+3711G>A) c.2138G>A (p.Gly713Asp) | |
| 8 | g.54625999G>C | CA370992768 | RP1 | c.2117G>C (p.Gly706Ala) c.787+3711G>C (n.787+3711G>C) c.2138G>C (p.Gly713Ala) | |
| 8 | g.54625999G>T | CA370992769 | RP1 | c.2117G>T (p.Gly706Val) c.787+3711G>T (n.787+3711G>T) c.2138G>T (p.Gly713Val) | gnomAD v4 |
| 8 | g.54626000T>A | CA461098630 | RP1 | c.2118T>A (p.Gly706=) c.787+3712T>A (n.787+3712T>A) c.2139T>A (p.Gly713=) | |
| 8 | g.54626000T>C | CA461098631 | RP1 | c.2118T>C (p.Gly706=) c.787+3712T>C (n.787+3712T>C) c.2139T>C (p.Gly713=) | gnomAD v4 |
| 8 | g.54626000T>G | CA461098632 | RP1 | c.2118T>G (p.Gly706=) c.787+3712T>G (n.787+3712T>G) c.2139T>G (p.Gly713=) | |
| 8 | g.54626001A>C | CA461098633 | RP1 | c.2119A>C (p.Arg707=) c.787+3713A>C (n.787+3713A>C) c.2140A>C (p.Arg714=) | |
| 8 | g.54626001A>G | CA370992770 | RP1 | c.2119A>G (p.Arg707Gly) c.787+3713A>G (n.787+3713A>G) c.2140A>G (p.Arg714Gly) | |
| 8 | g.54626001A>T | CA370992771 | RP1 | c.2119A>T (p.Arg707Ter) c.787+3713A>T (n.787+3713A>T) c.2140A>T (p.Arg714Ter) | |
| 8 | g.54626002G>A | CA370992774 | RP1 | c.2120G>A (p.Arg707Lys) c.787+3714G>A (n.787+3714G>A) c.2141G>A (p.Arg714Lys) | ClinVar dbSNP |
| 8 | g.54626002G>C | CA370992773 | RP1 | c.2120G>C (p.Arg707Thr) c.787+3714G>C (n.787+3714G>C) c.2141G>C (p.Arg714Thr) | gnomAD v4 |
| 8 | g.54626002G>T | CA370992772 | RP1 | c.2120G>T (p.Arg707Ile) c.787+3714G>T (n.787+3714G>T) c.2141G>T (p.Arg714Ile) | |
| 8 | g.54626003A>C | CA370992775 | RP1 | c.2121A>C (p.Arg707Ser) c.787+3715A>C (n.787+3715A>C) c.2142A>C (p.Arg714Ser) | |
| 8 | g.54626003A>G | CA461098635 | RP1 | c.2121A>G (p.Arg707=) c.787+3715A>G (n.787+3715A>G) c.2142A>G (p.Arg714=) | |
| 8 | g.54626003A>T | CA370992776 | RP1 | c.2121A>T (p.Arg707Ser) c.787+3715A>T (n.787+3715A>T) c.2142A>T (p.Arg714Ser) | |
| 8 | g.54626004A= | CA1785188116 | RP1 | c.2122A= (p.Ile708=) c.787+3716A= (n.787+3716A=) c.2143A= (p.Ile715=) | |
| 8 | g.54626004A>C | CA370992777 | RP1 | c.2122A>C (p.Ile708Leu) c.787+3716A>C (n.787+3716A>C) c.2143A>C (p.Ile715Leu) | |
| 8 | g.54626004A>G | CA370992778 | RP1 | c.2122A>G (p.Ile708Val) c.787+3716A>G (n.787+3716A>G) c.2143A>G (p.Ile715Val) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54626004A>T | CA370992779 | RP1 | c.2122A>T (p.Ile708Phe) c.787+3716A>T (n.787+3716A>T) c.2143A>T (p.Ile715Phe) | |
| 8 | g.54626005T>A | CA370992780 | RP1 | c.2123T>A (p.Ile708Asn) c.787+3717T>A (n.787+3717T>A) c.2144T>A (p.Ile715Asn) | |
| 8 | g.54626005T>C | CA370992781 | RP1 | c.2123T>C (p.Ile708Thr) c.787+3717T>C (n.787+3717T>C) c.2144T>C (p.Ile715Thr) | |
| 8 | g.54626005T>G | CA370992782 | RP1 | c.2123T>G (p.Ile708Ser) c.787+3717T>G (n.787+3717T>G) c.2144T>G (p.Ile715Ser) | |
| 8 | g.54626006T>A | CA461098636 | RP1 | c.2124T>A (p.Ile708=) c.787+3718T>A (n.787+3718T>A) c.2145T>A (p.Ile715=) | gnomAD v4 |
| 8 | g.54626006T>C | CA461098637 | RP1 | c.2124T>C (p.Ile708=) c.787+3718T>C (n.787+3718T>C) c.2145T>C (p.Ile715=) | |
| 8 | g.54626006T>G | CA370992783 | RP1 | c.2124T>G (p.Ile708Met) c.787+3718T>G (n.787+3718T>G) c.2145T>G (p.Ile715Met) | |
| 8 | g.54626007A>C | CA370992784 | RP1 | c.2125A>C (p.Thr709Pro) c.787+3719A>C (n.787+3719A>C) c.2146A>C (p.Thr716Pro) | |
| 8 | g.54626007A>G | CA370992785 | RP1 | c.2125A>G (p.Thr709Ala) c.787+3719A>G (n.787+3719A>G) c.2146A>G (p.Thr716Ala) | |
| 8 | g.54626007A>T | CA370992786 | RP1 | c.2125A>T (p.Thr709Ser) c.787+3719A>T (n.787+3719A>T) c.2146A>T (p.Thr716Ser) | |
| 8 | g.54626008C>A | CA370992789 | RP1 | c.2126C>A (p.Thr709Lys) c.787+3720C>A (n.787+3720C>A) c.2147C>A (p.Thr716Lys) | |
| 8 | g.54626008C>G | CA370992788 | RP1 | c.2126C>G (p.Thr709Arg) c.787+3720C>G (n.787+3720C>G) c.2147C>G (p.Thr716Arg) | |
| 8 | g.54626008C>T | CA370992787 | RP1 | c.2126C>T (p.Thr709Ile) c.787+3720C>T (n.787+3720C>T) c.2147C>T (p.Thr716Ile) | |
| 8 | g.54626009A= | CA1785188117 | RP1 | c.2127A= (p.Thr709=) c.787+3721A= (n.787+3721A=) c.2148A= (p.Thr716=) | |
| 8 | g.54626009A>C | CA4751480 | RP1 | c.2127A>C (p.Thr709=) c.787+3721A>C (n.787+3721A>C) c.2148A>C (p.Thr716=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626009A>G | CA461098641 | RP1 | c.2127A>G (p.Thr709=) c.787+3721A>G (n.787+3721A>G) c.2148A>G (p.Thr716=) | |
| 8 | g.54626009A>T | CA461098642 | RP1 | c.2127A>T (p.Thr709=) c.787+3721A>T (n.787+3721A>T) c.2148A>T (p.Thr716=) | |
| 8 | g.54626010A>C | CA370992790 | RP1 | c.2128A>C (p.Lys710Gln) c.787+3722A>C (n.787+3722A>C) c.2149A>C (p.Lys717Gln) | |
| 8 | g.54626010A>G | CA370992791 | RP1 | c.2128A>G (p.Lys710Glu) c.787+3722A>G (n.787+3722A>G) c.2149A>G (p.Lys717Glu) | |
| 8 | g.54626010A>T | CA370992792 | RP1 | c.2128A>T (p.Lys710Ter) c.787+3722A>T (n.787+3722A>T) c.2149A>T (p.Lys717Ter) | |
| 8 | g.54626011A>C | CA370992793 | RP1 | c.2129A>C (p.Lys710Thr) c.787+3723A>C (n.787+3723A>C) c.2150A>C (p.Lys717Thr) | |
| 8 | g.54626011A>G | CA370992794 | RP1 | c.2129A>G (p.Lys710Arg) c.787+3723A>G (n.787+3723A>G) c.2150A>G (p.Lys717Arg) | |
| 8 | g.54626011A>T | CA370992795 | RP1 | c.2129A>T (p.Lys710Met) c.787+3723A>T (n.787+3723A>T) c.2150A>T (p.Lys717Met) | |
| 8 | g.54626012G>A | CA461098644 | RP1 | c.2130G>A (p.Lys710=) c.787+3724G>A (n.787+3724G>A) c.2151G>A (p.Lys717=) | |
| 8 | g.54626012G>C | CA4751481 | RP1 | c.2130G>C (p.Lys710Asn) c.787+3724G>C (n.787+3724G>C) c.2151G>C (p.Lys717Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626012G= | CA1785188118 | RP1 | c.2130G= (p.Lys710=) c.787+3724G= (n.787+3724G=) c.2151G= (p.Lys717=) | |
| 8 | g.54626012G>T | CA370992796 | RP1 | c.2130G>T (p.Lys710Asn) c.787+3724G>T (n.787+3724G>T) c.2151G>T (p.Lys717Asn) | |
| 8 | g.54626013G>A | CA370992797 | RP1 | c.2131G>A (p.Glu711Lys) c.787+3725G>A (n.787+3725G>A) c.2152G>A (p.Glu718Lys) | COSMIC |
| 8 | g.54626013G>C | CA370992798 | RP1 | c.2131G>C (p.Glu711Gln) c.787+3725G>C (n.787+3725G>C) c.2152G>C (p.Glu718Gln) | |
| 8 | g.54626013G>T | CA370992799 | RP1 | c.2131G>T (p.Glu711Ter) c.787+3725G>T (n.787+3725G>T) c.2152G>T (p.Glu718Ter) | COSMIC |
| 8 | g.54626014A>C | CA370992800 | RP1 | c.2132A>C (p.Glu711Ala) c.787+3726A>C (n.787+3726A>C) c.2153A>C (p.Glu718Ala) | |
| 8 | g.54626014A>G | CA370992801 | RP1 | c.2132A>G (p.Glu711Gly) c.787+3726A>G (n.787+3726A>G) c.2153A>G (p.Glu718Gly) | |
| 8 | g.54626014A>T | CA370992802 | RP1 | c.2132A>T (p.Glu711Val) c.787+3726A>T (n.787+3726A>T) c.2153A>T (p.Glu718Val) | |
| 8 | g.54626015A>C | CA370992803 | RP1 | c.2133A>C (p.Glu711Asp) c.787+3727A>C (n.787+3727A>C) c.2154A>C (p.Glu718Asp) | |
| 8 | g.54626015A>G | CA461098646 | RP1 | c.2133A>G (p.Glu711=) c.787+3727A>G (n.787+3727A>G) c.2154A>G (p.Glu718=) | |
| 8 | g.54626015A>T | CA370992804 | RP1 | c.2133A>T (p.Glu711Asp) c.787+3727A>T (n.787+3727A>T) c.2154A>T (p.Glu718Asp) | |
| 8 | g.54626016A>C | CA370992805 | RP1 | c.2134A>C (p.Met712Leu) c.787+3728A>C (n.787+3728A>C) c.2155A>C (p.Met719Leu) | |
| 8 | g.54626016A>G | CA370992806 | RP1 | c.2134A>G (p.Met712Val) c.787+3728A>G (n.787+3728A>G) c.2155A>G (p.Met719Val) | |
| 8 | g.54626016A>T | CA370992807 | RP1 | c.2134A>T (p.Met712Leu) c.787+3728A>T (n.787+3728A>T) c.2155A>T (p.Met719Leu) | |
| 8 | g.54626016_54626017del | CA2529427246 | RP1 | c.2134_2135del (p.Met712AspfsTer7) c.787+3728_787+3729del (n.787+3728_787+3729del) c.2155_2156del (p.Met719AspfsTer7) | |
| 8 | g.54626017T>A | CA370992808 | RP1 | c.2135T>A (p.Met712Lys) c.787+3729T>A (n.787+3729T>A) c.2156T>A (p.Met719Lys) | |
| 8 | g.54626017T>C | CA4751482 | RP1 | c.2135T>C (p.Met712Thr) c.787+3729T>C (n.787+3729T>C) c.2156T>C (p.Met719Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626017T>G | CA370992809 | RP1 | c.2135T>G (p.Met712Arg) c.787+3729T>G (n.787+3729T>G) c.2156T>G (p.Met719Arg) | |
| 8 | g.54626017T= | CA1785188119 | RP1 | c.2135T= (p.Met712=) c.787+3729T= (n.787+3729T=) c.2156T= (p.Met719=) | |
| 8 | g.54626018G>A | CA4751483 | RP1 | c.2136G>A (p.Met712Ile) c.787+3730G>A (n.787+3730G>A) c.2157G>A (p.Met719Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626018G>C | CA370992810 | RP1 | c.2136G>C (p.Met712Ile) c.787+3730G>C (n.787+3730G>C) c.2157G>C (p.Met719Ile) | gnomAD v4 |
| 8 | g.54626018G= | CA1785188120 | RP1 | c.2136G= (p.Met712=) c.787+3730G= (n.787+3730G=) c.2157G= (p.Met719=) | |
| 8 | g.54626018G>T | CA370992811 | RP1 | c.2136G>T (p.Met712Ile) c.787+3730G>T (n.787+3730G>T) c.2157G>T (p.Met719Ile) | |
| 8 | g.54626018_54626019insCC | CA2567737805 | RP1 | c.2136_2137insCC (p.Ile713ProfsTer2) c.787+3730_787+3731insCC (n.787+3730_787+3731insCC) c.2157_2158insCC (p.Ile720ProfsTer2) | |
| 8 | g.54626019A>C | CA370992812 | RP1 | c.2137A>C (p.Ile713Leu) c.787+3731A>C (n.787+3731A>C) c.2158A>C (p.Ile720Leu) | |
| 8 | g.54626019A>G | CA370992813 | RP1 | c.2137A>G (p.Ile713Val) c.787+3731A>G (n.787+3731A>G) c.2158A>G (p.Ile720Val) | |
| 8 | g.54626019A>T | CA370992814 | RP1 | c.2137A>T (p.Ile713Leu) c.787+3731A>T (n.787+3731A>T) c.2158A>T (p.Ile720Leu) | |
| 8 | g.54626020T>A | CA370992816 | RP1 | c.2138T>A (p.Ile713Lys) c.787+3732T>A (n.787+3732T>A) c.2159T>A (p.Ile720Lys) | |
| 8 | g.54626020T>C | CA370992817 | RP1 | c.2138T>C (p.Ile713Thr) c.787+3732T>C (n.787+3732T>C) c.2159T>C (p.Ile720Thr) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54626020T>G | CA370992815 | RP1 | c.2138T>G (p.Ile713Arg) c.787+3732T>G (n.787+3732T>G) c.2159T>G (p.Ile720Arg) | |
| 8 | g.54626021A>C | CA461098649 | RP1 | c.2139A>C (p.Ile713=) c.787+3733A>C (n.787+3733A>C) c.2160A>C (p.Ile720=) | |
| 8 | g.54626021A>G | CA370992818 | RP1 | c.2139A>G (p.Ile713Met) c.787+3733A>G (n.787+3733A>G) c.2160A>G (p.Ile720Met) | gnomAD v4 |
| 8 | g.54626021A>T | CA461098650 | RP1 | c.2139A>T (p.Ile713=) c.787+3733A>T (n.787+3733A>T) c.2160A>T (p.Ile720=) | |
| 8 | g.54626022G>A | CA370992820 | RP1 | c.2140G>A (p.Val714Met) c.787+3734G>A (n.787+3734G>A) c.2161G>A (p.Val721Met) | |
| 8 | g.54626022G>C | CA370992819 | RP1 | c.2140G>C (p.Val714Leu) c.787+3734G>C (n.787+3734G>C) c.2161G>C (p.Val721Leu) | |
| 8 | g.54626022G>T | CA370992821 | RP1 | c.2140G>T (p.Val714Leu) c.787+3734G>T (n.787+3734G>T) c.2161G>T (p.Val721Leu) | gnomAD v4 |
| 8 | g.54626023T>A | CA370992822 | RP1 | c.2141T>A (p.Val714Glu) c.787+3735T>A (n.787+3735T>A) c.2162T>A (p.Val721Glu) | |
| 8 | g.54626023T>C | CA370992824 | RP1 | c.2141T>C (p.Val714Ala) c.787+3735T>C (n.787+3735T>C) c.2162T>C (p.Val721Ala) | |
| 8 | g.54626023T>G | CA370992823 | RP1 | c.2141T>G (p.Val714Gly) c.787+3735T>G (n.787+3735T>G) c.2162T>G (p.Val721Gly) | dbSNP |
| 8 | g.54626023T= | CA1785188121 | RP1 | c.2141T= (p.Val714=) c.787+3735T= (n.787+3735T=) c.2162T= (p.Val721=) | |
| 8 | g.54626024G>A | CA177237025 | RP1 | c.2142G>A (p.Val714=) c.787+3736G>A (n.787+3736G>A) c.2163G>A (p.Val721=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626024G>C | CA461098652 | RP1 | c.2142G>C (p.Val714=) c.787+3736G>C (n.787+3736G>C) c.2163G>C (p.Val721=) | |
| 8 | g.54626024G= | CA1785188122 | RP1 | c.2142G= (p.Val714=) c.787+3736G= (n.787+3736G=) c.2163G= (p.Val721=) | |
| 8 | g.54626024G>T | CA461098653 | RP1 | c.2142G>T (p.Val714=) c.787+3736G>T (n.787+3736G>T) c.2163G>T (p.Val721=) | |
| 8 | g.54626025C>A | CA370992825 | RP1 | c.2143C>A (p.Gln715Lys) c.787+3737C>A (n.787+3737C>A) c.2164C>A (p.Gln722Lys) | |
| 8 | g.54626025C>G | CA370992826 | RP1 | c.2143C>G (p.Gln715Glu) c.787+3737C>G (n.787+3737C>G) c.2164C>G (p.Gln722Glu) | |
| 8 | g.54626025C>T | CA370992827 | RP1 | c.2143C>T (p.Gln715Ter) c.787+3737C>T (n.787+3737C>T) c.2164C>T (p.Gln722Ter) | |
| 8 | g.54626026A>C | CA370992828 | RP1 | c.2144A>C (p.Gln715Pro) c.787+3738A>C (n.787+3738A>C) c.2165A>C (p.Gln722Pro) | |
| 8 | g.54626026A>G | CA370992829 | RP1 | c.2144A>G (p.Gln715Arg) c.787+3738A>G (n.787+3738A>G) c.2165A>G (p.Gln722Arg) | |
| 8 | g.54626026A>T | CA370992830 | RP1 | c.2144A>T (p.Gln715Leu) c.787+3738A>T (n.787+3738A>T) c.2165A>T (p.Gln722Leu) | |
| 8 | g.54626027A>C | CA370992831 | RP1 | c.2145A>C (p.Gln715His) c.787+3739A>C (n.787+3739A>C) c.2166A>C (p.Gln722His) | |
| 8 | g.54626027A>G | CA461098654 | RP1 | c.2145A>G (p.Gln715=) c.787+3739A>G (n.787+3739A>G) c.2166A>G (p.Gln722=) | |
| 8 | g.54626027A>T | CA370992832 | RP1 | c.2145A>T (p.Gln715His) c.787+3739A>T (n.787+3739A>T) c.2166A>T (p.Gln722His) | |
| 8 | g.54626028G>A | CA370992833 | RP1 | c.2146G>A (p.Asp716Asn) c.787+3740G>A (n.787+3740G>A) c.2167G>A (p.Asp723Asn) | |
| 8 | g.54626028G>C | CA370992834 | RP1 | c.2146G>C (p.Asp716His) c.787+3740G>C (n.787+3740G>C) c.2167G>C (p.Asp723His) | |
| 8 | g.54626028G>T | CA370992835 | RP1 | c.2146G>T (p.Asp716Tyr) c.787+3740G>T (n.787+3740G>T) c.2167G>T (p.Asp723Tyr) | |
| 8 | g.54626029A>C | CA370992836 | RP1 | c.2147A>C (p.Asp716Ala) c.787+3741A>C (n.787+3741A>C) c.2168A>C (p.Asp723Ala) | |
| 8 | g.54626029A>G | CA370992838 | RP1 | c.2147A>G (p.Asp716Gly) c.787+3741A>G (n.787+3741A>G) c.2168A>G (p.Asp723Gly) | |
| 8 | g.54626029A>T | CA370992837 | RP1 | c.2147A>T (p.Asp716Val) c.787+3741A>T (n.787+3741A>T) c.2168A>T (p.Asp723Val) | |
| 8 | g.54626030T>A | CA370992839 | RP1 | c.2148T>A (p.Asp716Glu) c.787+3742T>A (n.787+3742T>A) c.2169T>A (p.Asp723Glu) | |
| 8 | g.54626030T>C | CA4751484 | RP1 | c.2148T>C (p.Asp716=) c.787+3742T>C (n.787+3742T>C) c.2169T>C (p.Asp723=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626030T>G | CA370992840 | RP1 | c.2148T>G (p.Asp716Glu) c.787+3742T>G (n.787+3742T>G) c.2169T>G (p.Asp723Glu) | |
| 8 | g.54626030T= | CA1785188123 | RP1 | c.2148T= (p.Asp716=) c.787+3742T= (n.787+3742T=) c.2169T= (p.Asp723=) | |
| 8 | g.54626031T>A | CA370992841 | RP1 | c.2149T>A (p.Ser717Thr) c.787+3743T>A (n.787+3743T>A) c.2170T>A (p.Ser724Thr) | |
| 8 | g.54626031T>C | CA370992842 | RP1 | c.2149T>C (p.Ser717Pro) c.787+3743T>C (n.787+3743T>C) c.2170T>C (p.Ser724Pro) | |
| 8 | g.54626031T>G | CA370992843 | RP1 | c.2149T>G (p.Ser717Ala) c.787+3743T>G (n.787+3743T>G) c.2170T>G (p.Ser724Ala) | |
| 8 | g.54626032del | CA2580078388 | RP1 | c.2150del (p.Ser717Ter) c.787+3744del (n.787+3744del) c.2171del (p.Ser724Ter) | ClinVar |
| 8 | g.54626032C>A | CA370992844 | RP1 | c.2150C>A (p.Ser717Ter) c.787+3744C>A (n.787+3744C>A) c.2171C>A (p.Ser724Ter) | |
| 8 | g.54626032C= | CA1785188124 | RP1 | c.2150C= (p.Ser717=) c.787+3744C= (n.787+3744C=) c.2171C= (p.Ser724=) | |
| 8 | g.54626032C>G | CA370992845 | RP1 | c.2150C>G (p.Ser717Ter) c.787+3744C>G (n.787+3744C>G) c.2171C>G (p.Ser724Ter) | |
| 8 | g.54626032C>T | CA370992846 | RP1 | c.2150C>T (p.Ser717Leu) c.787+3744C>T (n.787+3744C>T) c.2171C>T (p.Ser724Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626033A>C | CA461098660 | RP1 | c.2151A>C (p.Ser717=) c.787+3745A>C (n.787+3745A>C) c.2172A>C (p.Ser724=) | |
| 8 | g.54626033A>G | CA461098661 | RP1 | c.2151A>G (p.Ser717=) c.787+3745A>G (n.787+3745A>G) c.2172A>G (p.Ser724=) | |
| 8 | g.54626033A>T | CA461098662 | RP1 | c.2151A>T (p.Ser717=) c.787+3745A>T (n.787+3745A>T) c.2172A>T (p.Ser724=) | |
| 8 | g.54626034G>A | CA370992848 | RP1 | c.2152G>A (p.Asp718Asn) c.787+3746G>A (n.787+3746G>A) c.2173G>A (p.Asp725Asn) | COSMIC |
| 8 | g.54626034G>C | CA370992849 | RP1 | c.2152G>C (p.Asp718His) c.787+3746G>C (n.787+3746G>C) c.2173G>C (p.Asp725His) | |
| 8 | g.54626034G>T | CA370992847 | RP1 | c.2152G>T (p.Asp718Tyr) c.787+3746G>T (n.787+3746G>T) c.2173G>T (p.Asp725Tyr) | |
| 8 | g.54626035A= | CA1785188125 | RP1 | c.2153A= (p.Asp718=) c.787+3747A= (n.787+3747A=) c.2174A= (p.Asp725=) | |
| 8 | g.54626035A>C | CA370992850 | RP1 | c.2153A>C (p.Asp718Ala) c.787+3747A>C (n.787+3747A>C) c.2174A>C (p.Asp725Ala) | |
| 8 | g.54626035A>G | CA370992851 | RP1 | c.2153A>G (p.Asp718Gly) c.787+3747A>G (n.787+3747A>G) c.2174A>G (p.Asp725Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54626035A>T | CA370992852 | RP1 | c.2153A>T (p.Asp718Val) c.787+3747A>T (n.787+3747A>T) c.2174A>T (p.Asp725Val) | |
| 8 | g.54626036T>A | CA370992853 | RP1 | c.2154T>A (p.Asp718Glu) c.787+3748T>A (n.787+3748T>A) c.2175T>A (p.Asp725Glu) | |
| 8 | g.54626036T>C | CA461098667 | RP1 | c.2154T>C (p.Asp718=) c.787+3748T>C (n.787+3748T>C) c.2175T>C (p.Asp725=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54626036T>G | CA370992854 | RP1 | c.2154T>G (p.Asp718Glu) c.787+3748T>G (n.787+3748T>G) c.2175T>G (p.Asp725Glu) | |
| 8 | g.54626036T= | CA1785188126 | RP1 | c.2154T= (p.Asp718=) c.787+3748T= (n.787+3748T=) c.2175T= (p.Asp725=) | |
| 8 | g.54626037A>C | CA370992857 | RP1 | c.2155A>C (p.Ser719Arg) c.787+3749A>C (n.787+3749A>C) c.2176A>C (p.Ser726Arg) | |
| 8 | g.54626037A>G | CA370992855 | RP1 | c.2155A>G (p.Ser719Gly) c.787+3749A>G (n.787+3749A>G) c.2176A>G (p.Ser726Gly) | |
| 8 | g.54626037A>T | CA370992856 | RP1 | c.2155A>T (p.Ser719Cys) c.787+3749A>T (n.787+3749A>T) c.2176A>T (p.Ser726Cys) | |
| 8 | g.54626038G>A | CA370992858 | RP1 | c.2156G>A (p.Ser719Asn) c.787+3750G>A (n.787+3750G>A) c.2177G>A (p.Ser726Asn) | |
| 8 | g.54626038G>C | CA4751485 | RP1 | c.2156G>C (p.Ser719Thr) c.787+3750G>C (n.787+3750G>C) c.2177G>C (p.Ser726Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626038G= | CA1785188127 | RP1 | c.2156G= (p.Ser719=) c.787+3750G= (n.787+3750G=) c.2177G= (p.Ser726=) | |
| 8 | g.54626038G>T | CA370992859 | RP1 | c.2156G>T (p.Ser719Ile) c.787+3750G>T (n.787+3750G>T) c.2177G>T (p.Ser726Ile) | |
| 8 | g.54626039_54626138del | CA2740095044 | RP1 | c.2157_2256del (p.Ser719ArgfsTer11) c.787+3751_787+3850del (n.787+3751_787+3850del) c.2178_2277del (p.Ser726ArgfsTer11) | ClinVar |
| 8 | g.54626039T>A | CA370992860 | RP1 | c.2157T>A (p.Ser719Arg) c.787+3751T>A (n.787+3751T>A) c.2178T>A (p.Ser726Arg) | |
| 8 | g.54626039T>C | CA461098670 | RP1 | c.2157T>C (p.Ser719=) c.787+3751T>C (n.787+3751T>C) c.2178T>C (p.Ser726=) | |
| 8 | g.54626039T>G | CA370992861 | RP1 | c.2157T>G (p.Ser719Arg) c.787+3751T>G (n.787+3751T>G) c.2178T>G (p.Ser726Arg) | |
| 8 | g.54626039_54626040delinsTC | CA1785188128 | RP1 | c.2157_2158delinsTC (p.Ser719=) c.787+3751_787+3752delinsTC (n.787+3751_787+3752delinsTC) c.2178_2179delinsTC (p.Ser726=) | |
| 8 | g.54626040C>A | CA370992862 | RP1 | c.2158C>A (p.Pro720Thr) c.787+3752C>A (n.787+3752C>A) c.2179C>A (p.Pro727Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.54626040C= | CA1785188129 | RP1 | c.2158C= (p.Pro720=) c.787+3752C= (n.787+3752C=) c.2179C= (p.Pro727=) | |
| 8 | g.54626040C>G | CA370992864 | RP1 | c.2158C>G (p.Pro720Ala) c.787+3752C>G (n.787+3752C>G) c.2179C>G (p.Pro727Ala) | |
| 8 | g.54626040C>T | CA370992863 | RP1 | c.2158C>T (p.Pro720Ser) c.787+3752C>T (n.787+3752C>T) c.2179C>T (p.Pro727Ser) | dbSNP COSMIC |
| 8 | g.54626043del | CA4751486 | RP1 | c.2161del (p.Gly723GlufsTer15) c.787+3755del (n.787+3755del) c.2182del (p.Gly730GlufsTer15) | ClinVar dbSNP ExAC gnomAD v2 |
| 8 | g.54626041C>A | CA370992865 | RP1 | c.2159C>A (p.Pro720His) c.787+3753C>A (n.787+3753C>A) c.2180C>A (p.Pro727His) | dbSNP |
| 8 | g.54626041C= | CA1785188130 | RP1 | c.2159C= (p.Pro720=) c.787+3753C= (n.787+3753C=) c.2180C= (p.Pro727=) | |
| 8 | g.54626041C>G | CA370992866 | RP1 | c.2159C>G (p.Pro720Arg) c.787+3753C>G (n.787+3753C>G) c.2180C>G (p.Pro727Arg) | dbSNP |
| 8 | g.54626041C>T | CA177237032 | RP1 | c.2159C>T (p.Pro720Leu) c.787+3753C>T (n.787+3753C>T) c.2180C>T (p.Pro727Leu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.54626042C>A | CA461098674 | RP1 | c.2160C>A (p.Pro720=) c.787+3754C>A (n.787+3754C>A) c.2181C>A (p.Pro727=) | |
| 8 | g.54626042C= | CA1785188131 | RP1 | c.2160C= (p.Pro720=) c.787+3754C= (n.787+3754C=) c.2181C= (p.Pro727=) | |
| 8 | g.54626042C>G | CA461098672 | RP1 | c.2160C>G (p.Pro720=) c.787+3754C>G (n.787+3754C>G) c.2181C>G (p.Pro727=) | |
| 8 | g.54626042C>T | CA461098673 | RP1 | c.2160C>T (p.Pro720=) c.787+3754C>T (n.787+3754C>T) c.2181C>T (p.Pro727=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 8 | g.54626043C>A | CA370992867 | RP1 | c.2161C>A (p.Leu721Ile) c.787+3755C>A (n.787+3755C>A) c.2182C>A (p.Leu728Ile) | |
| 8 | g.54626043C>G | CA370992868 | RP1 | c.2161C>G (p.Leu721Val) c.787+3755C>G (n.787+3755C>G) c.2182C>G (p.Leu728Val) | |
| 8 | g.54626043C>T | CA370992869 | RP1 | c.2161C>T (p.Leu721Phe) c.787+3755C>T (n.787+3755C>T) c.2182C>T (p.Leu728Phe) | COSMIC |
| 8 | g.54626044T>A | CA370992870 | RP1 | c.2162T>A (p.Leu721His) c.787+3756T>A (n.787+3756T>A) c.2183T>A (p.Leu728His) | dbSNP |
| 8 | g.54626044T>C | CA370992871 | RP1 | c.2162T>C (p.Leu721Pro) c.787+3756T>C (n.787+3756T>C) c.2183T>C (p.Leu728Pro) | |
| 8 | g.54626044T>G | CA370992872 | RP1 | c.2162T>G (p.Leu721Arg) c.787+3756T>G (n.787+3756T>G) c.2183T>G (p.Leu728Arg) | |
| 8 | g.54626044T= | CA1785188132 | RP1 | c.2162T= (p.Leu721=) c.787+3756T= (n.787+3756T=) c.2183T= (p.Leu728=) | |
| 8 | g.54626045dup | CA2695209266 | RP1 | c.2163dup (p.Lys722Ter) c.787+3757dup (n.787+3757dup) c.2184dup (p.Lys729Ter) | |
| 8 | g.54626045T>A | CA461098678 | RP1 | c.2163T>A (p.Leu721=) c.787+3757T>A (n.787+3757T>A) c.2184T>A (p.Leu728=) | |
| 8 | g.54626045T>C | CA4751487 | RP1 | c.2163T>C (p.Leu721=) c.787+3757T>C (n.787+3757T>C) c.2184T>C (p.Leu728=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626045T>G | CA461098679 | RP1 | c.2163T>G (p.Leu721=) c.787+3757T>G (n.787+3757T>G) c.2184T>G (p.Leu728=) | |
| 8 | g.54626045T= | CA1785188133 | RP1 | c.2163T= (p.Leu721=) c.787+3757T= (n.787+3757T=) c.2184T= (p.Leu728=) | |
| 8 | g.54626046A>C | CA370992875 | RP1 | c.2164A>C (p.Lys722Gln) c.787+3758A>C (n.787+3758A>C) c.2185A>C (p.Lys729Gln) | |
| 8 | g.54626046A>G | CA370992874 | RP1 | c.2164A>G (p.Lys722Glu) c.787+3758A>G (n.787+3758A>G) c.2185A>G (p.Lys729Glu) | |
| 8 | g.54626046A>T | CA370992873 | RP1 | c.2164A>T (p.Lys722Ter) c.787+3758A>T (n.787+3758A>T) c.2185A>T (p.Lys729Ter) | |
| 8 | g.54626048del | CA2499219349 | RP1 | c.2166del (p.Gly723GlufsTer15) c.787+3760del (n.787+3760del) c.2187del (p.Gly730GlufsTer15) | ClinVar dbSNP |
| 8 | g.54626047A= | CA1785188134 | RP1 | c.2165A= (p.Lys722=) c.787+3759A= (n.787+3759A=) c.2186A= (p.Lys729=) | |
| 8 | g.54626047A>C | CA370992876 | RP1 | c.2165A>C (p.Lys722Thr) c.787+3759A>C (n.787+3759A>C) c.2186A>C (p.Lys729Thr) | |
| 8 | g.54626047A>G | CA370992877 | RP1 | c.2165A>G (p.Lys722Arg) c.787+3759A>G (n.787+3759A>G) c.2186A>G (p.Lys729Arg) | COSMIC |
| 8 | g.54626047A>T | CA4751488 | RP1 | c.2165A>T (p.Lys722Ile) c.787+3759A>T (n.787+3759A>T) c.2186A>T (p.Lys729Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626047_54626048delinsG | CA2695209267 | RP1 | c.2165_2166delinsG (p.Lys722ArgfsTer16) c.787+3759_787+3760delinsG (n.787+3759_787+3760delinsG) c.2186_2187delinsG (p.Lys729ArgfsTer16) | |
| 8 | g.54626048A>C | CA370992878 | RP1 | c.2166A>C (p.Lys722Asn) c.787+3760A>C (n.787+3760A>C) c.2187A>C (p.Lys729Asn) | COSMIC |
| 8 | g.54626048A>G | CA461098683 | RP1 | c.2166A>G (p.Lys722=) c.787+3760A>G (n.787+3760A>G) c.2187A>G (p.Lys729=) | |
| 8 | g.54626048A>T | CA370992879 | RP1 | c.2166A>T (p.Lys722Asn) c.787+3760A>T (n.787+3760A>T) c.2187A>T (p.Lys729Asn) | |
| 8 | g.54626049G>A | CA370992880 | RP1 | c.2167G>A (p.Gly723Arg) c.787+3761G>A (n.787+3761G>A) c.2188G>A (p.Gly730Arg) | gnomAD v4 |
| 8 | g.54626049G>C | CA370992881 | RP1 | c.2167G>C (p.Gly723Arg) c.787+3761G>C (n.787+3761G>C) c.2188G>C (p.Gly730Arg) | |
| 8 | g.54626049G= | CA1785188136 | RP1 | c.2167G= (p.Gly723=) c.787+3761G= (n.787+3761G=) c.2188G= (p.Gly730=) | |
| 8 | g.54626049G>T | CA370992882 | RP1 | c.2167G>T (p.Gly723Ter) c.787+3761G>T (n.787+3761G>T) c.2188G>T (p.Gly730Ter) | ClinVar dbSNP |
| 8 | g.54626049_54626063delinsGGAGGGATACTTTGT | CA1785188135 | RP1 | c.2167_2181delinsGGAGGGATACTTTGT (p.Gly723=) c.787+3761_787+3775delinsGGAGGGATACTTTGT (n.787+3761_787+3775delinsGGAGGGATACTTTGT) c.2188_2202delinsGGAGGGATACTTTGT (p.Gly730=) | |
| 8 | g.54626050G>A | CA4751489 | RP1 | c.2168G>A (p.Gly723Glu) c.787+3762G>A (n.787+3762G>A) c.2189G>A (p.Gly730Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626050G>C | CA370992883 | RP1 | c.2168G>C (p.Gly723Ala) c.787+3762G>C (n.787+3762G>C) c.2189G>C (p.Gly730Ala) | |
| 8 | g.54626050G= | CA1785188137 | RP1 | c.2168G= (p.Gly723=) c.787+3762G= (n.787+3762G=) c.2189G= (p.Gly730=) | |
| 8 | g.54626050G>T | CA370992884 | RP1 | c.2168G>T (p.Gly723Val) c.787+3762G>T (n.787+3762G>T) c.2189G>T (p.Gly730Val) | COSMIC |
| 8 | g.54626054_54626067del | CA645509466 | RP1 | c.2172_2185del (p.Ile725ArgfsTer6) c.787+3766_787+3779del (n.787+3766_787+3779del) c.2193_2206del (p.Ile732ArgfsTer6) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54626051del | CA2695209268 | RP1 | c.2169del (p.Ile725TyrfsTer13) c.787+3763del (n.787+3763del) c.2190del (p.Ile732TyrfsTer13) | |
| 8 | g.54626051A= | CA1785188138 | RP1 | c.2169A= (p.Gly723=) c.787+3763A= (n.787+3763A=) c.2190A= (p.Gly730=) | |
| 8 | g.54626051A>C | CA461098686 | RP1 | c.2169A>C (p.Gly723=) c.787+3763A>C (n.787+3763A>C) c.2190A>C (p.Gly730=) | |
| 8 | g.54626051A>G | CA4751490 | RP1 | c.2169A>G (p.Gly723=) c.787+3763A>G (n.787+3763A>G) c.2190A>G (p.Gly730=) | dbSNP ExAC |
| 8 | g.54626051A>T | CA461098687 | RP1 | c.2169A>T (p.Gly723=) c.787+3763A>T (n.787+3763A>T) c.2190A>T (p.Gly730=) | |
| 8 | g.54626052G>A | CA370992885 | RP1 | c.2170G>A (p.Gly724Arg) c.787+3764G>A (n.787+3764G>A) c.2191G>A (p.Gly731Arg) | ClinVar |
| 8 | g.54626052G>C | CA370992886 | RP1 | c.2170G>C (p.Gly724Arg) c.787+3764G>C (n.787+3764G>C) c.2191G>C (p.Gly731Arg) | |
| 8 | g.54626052G>T | CA370992887 | RP1 | c.2170G>T (p.Gly724Trp) c.787+3764G>T (n.787+3764G>T) c.2191G>T (p.Gly731Trp) | |
| 8 | g.54626054dup | CA2695209269 | RP1 | c.2172dup (p.Ile725AspfsTer4) c.787+3766dup (n.787+3766dup) c.2193dup (p.Ile732AspfsTer4) | |
| 8 | g.54626053G>A | CA370992890 | RP1 | c.2171G>A (p.Gly724Glu) c.787+3765G>A (n.787+3765G>A) c.2192G>A (p.Gly731Glu) | gnomAD v4 COSMIC |
| 8 | g.54626053G>C | CA370992888 | RP1 | c.2171G>C (p.Gly724Ala) c.787+3765G>C (n.787+3765G>C) c.2192G>C (p.Gly731Ala) | |
| 8 | g.54626053G>T | CA370992889 | RP1 | c.2171G>T (p.Gly724Val) c.787+3765G>T (n.787+3765G>T) c.2192G>T (p.Gly731Val) | |
| 8 | g.54626053_54626068del | CA2695209270 | RP1 | c.2171_2186del (p.Gly724GlufsTer9) c.787+3765_787+3780del (n.787+3765_787+3780del) c.2192_2207del (p.Gly731GlufsTer9) | |
| 8 | g.54626054G>A | CA461098691 | RP1 | c.2172G>A (p.Gly724=) c.787+3766G>A (n.787+3766G>A) c.2193G>A (p.Gly731=) | COSMIC |
| 8 | g.54626054G>C | CA461098693 | RP1 | c.2172G>C (p.Gly724=) c.787+3766G>C (n.787+3766G>C) c.2193G>C (p.Gly731=) | ClinVar |
| 8 | g.54626054G>T | CA461098692 | RP1 | c.2172G>T (p.Gly724=) c.787+3766G>T (n.787+3766G>T) c.2193G>T (p.Gly731=) | gnomAD v4 |
| 8 | g.54626055A= | CA1785188139 | RP1 | c.2173A= (p.Ile725=) c.787+3767A= (n.787+3767A=) c.2194A= (p.Ile732=) | |
| 8 | g.54626055A>C | CA370992891 | RP1 | c.2173A>C (p.Ile725Leu) c.787+3767A>C (n.787+3767A>C) c.2194A>C (p.Ile732Leu) | |
| 8 | g.54626055A>G | CA370992892 | RP1 | c.2173A>G (p.Ile725Val) c.787+3767A>G (n.787+3767A>G) c.2194A>G (p.Ile732Val) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626055A>T | CA370992893 | RP1 | c.2173A>T (p.Ile725Leu) c.787+3767A>T (n.787+3767A>T) c.2194A>T (p.Ile732Leu) | gnomAD v4 |
| 8 | g.54626055dup | CA2573143220 | RP1 | c.2173dup (p.Ile725AsnfsTer4) c.787+3767dup (n.787+3767dup) c.2194dup (p.Ile732AsnfsTer4) | ClinVar dbSNP |
| 8 | g.54626055_54626056delinsG | CA2580078390 | RP1 | c.2173_2174delinsG (p.Ile725AspfsTer13) c.787+3767_787+3768delinsG (n.787+3767_787+3768delinsG) c.2194_2195delinsG (p.Ile732AspfsTer13) | ClinVar dbSNP |
| 8 | g.54626056T>A | CA370992894 | RP1 | c.2174T>A (p.Ile725Lys) c.787+3768T>A (n.787+3768T>A) c.2195T>A (p.Ile732Lys) | |
| 8 | g.54626056T>C | CA370992895 | RP1 | c.2174T>C (p.Ile725Thr) c.787+3768T>C (n.787+3768T>C) c.2195T>C (p.Ile732Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626056T>G | CA370992896 | RP1 | c.2174T>G (p.Ile725Arg) c.787+3768T>G (n.787+3768T>G) c.2195T>G (p.Ile732Arg) | |
| 8 | g.54626056T= | CA1785188140 | RP1 | c.2174T= (p.Ile725=) c.787+3768T= (n.787+3768T=) c.2195T= (p.Ile732=) | |
| 8 | g.54626057A= | CA1785188141 | RP1 | c.2175A= (p.Ile725=) c.787+3769A= (n.787+3769A=) c.2196A= (p.Ile732=) | |
| 8 | g.54626057A>C | CA461098694 | RP1 | c.2175A>C (p.Ile725=) c.787+3769A>C (n.787+3769A>C) c.2196A>C (p.Ile732=) | |
| 8 | g.54626057A>G | CA370992897 | RP1 | c.2175A>G (p.Ile725Met) c.787+3769A>G (n.787+3769A>G) c.2196A>G (p.Ile732Met) | dbSNP |
| 8 | g.54626057A>T | CA461098696 | RP1 | c.2175A>T (p.Ile725=) c.787+3769A>T (n.787+3769A>T) c.2196A>T (p.Ile732=) | |
| 8 | g.54626058C>A | CA370992898 | RP1 | c.2176C>A (p.Leu726Ile) c.787+3770C>A (n.787+3770C>A) c.2197C>A (p.Leu733Ile) | gnomAD v4 |
| 8 | g.54626058C>G | CA370992899 | RP1 | c.2176C>G (p.Leu726Val) c.787+3770C>G (n.787+3770C>G) c.2197C>G (p.Leu733Val) | |
| 8 | g.54626058C>T | CA370992900 | RP1 | c.2176C>T (p.Leu726Phe) c.787+3770C>T (n.787+3770C>T) c.2197C>T (p.Leu733Phe) | |
| 8 | g.54626059T>A | CA370992903 | RP1 | c.2177T>A (p.Leu726His) c.787+3771T>A (n.787+3771T>A) c.2198T>A (p.Leu733His) | COSMIC |
| 8 | g.54626059T>C | CA370992902 | RP1 | c.2177T>C (p.Leu726Pro) c.787+3771T>C (n.787+3771T>C) c.2198T>C (p.Leu733Pro) | COSMIC |
| 8 | g.54626059T>G | CA370992901 | RP1 | c.2177T>G (p.Leu726Arg) c.787+3771T>G (n.787+3771T>G) c.2198T>G (p.Leu733Arg) | dbSNP |
| 8 | g.54626059T= | CA1785188142 | RP1 | c.2177T= (p.Leu726=) c.787+3771T= (n.787+3771T=) c.2198T= (p.Leu733=) | |
| 8 | g.54626060T>A | CA4751491 | RP1 | c.2178T>A (p.Leu726=) c.787+3772T>A (n.787+3772T>A) c.2199T>A (p.Leu733=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626060T>C | CA461098697 | RP1 | c.2178T>C (p.Leu726=) c.787+3772T>C (n.787+3772T>C) c.2199T>C (p.Leu733=) | |
| 8 | g.54626060T>G | CA461098698 | RP1 | c.2178T>G (p.Leu726=) c.787+3772T>G (n.787+3772T>G) c.2199T>G (p.Leu733=) | |
| 8 | g.54626060T= | CA1785188143 | RP1 | c.2178T= (p.Leu726=) c.787+3772T= (n.787+3772T=) c.2199T= (p.Leu733=) | |
| 8 | g.54626061T>A | CA370992904 | RP1 | c.2179T>A (p.Cys727Ser) c.787+3773T>A (n.787+3773T>A) c.2200T>A (p.Cys734Ser) | |
| 8 | g.54626061T>C | CA370992905 | RP1 | c.2179T>C (p.Cys727Arg) c.787+3773T>C (n.787+3773T>C) c.2200T>C (p.Cys734Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626061T>G | CA370992906 | RP1 | c.2179T>G (p.Cys727Gly) c.787+3773T>G (n.787+3773T>G) c.2200T>G (p.Cys734Gly) | |
| 8 | g.54626061T= | CA1785188144 | RP1 | c.2179T= (p.Cys727=) c.787+3773T= (n.787+3773T=) c.2200T= (p.Cys734=) | |
| 8 | g.54626062del | CA2580611074 | RP1 | c.2180del (p.Cys727LeufsTer11) c.787+3774del (n.787+3774del) c.2201del (p.Cys734LeufsTer11) | |
| 8 | g.54626062G>A | CA370992907 | RP1 | c.2180G>A (p.Cys727Tyr) c.787+3774G>A (n.787+3774G>A) c.2201G>A (p.Cys734Tyr) | |
| 8 | g.54626062G>C | CA370992908 | RP1 | c.2180G>C (p.Cys727Ser) c.787+3774G>C (n.787+3774G>C) c.2201G>C (p.Cys734Ser) | |
| 8 | g.54626062G>T | CA370992909 | RP1 | c.2180G>T (p.Cys727Phe) c.787+3774G>T (n.787+3774G>T) c.2201G>T (p.Cys734Phe) | gnomAD v4 |
| 8 | g.54626062_54626063delinsAA | CA915945689 | RP1 | c.2180_2181delinsAA (p.Cys727Ter) c.787+3774_787+3775delinsAA (n.787+3774_787+3775delinsAA) c.2201_2202delinsAA (p.Cys734Ter) | ClinVar dbSNP |
| 8 | g.54626062_54626063delinsGT | CA1785188145 | RP1 | c.2180_2181delinsGT (p.Cys727=) c.787+3774_787+3775delinsGT (n.787+3774_787+3775delinsGT) c.2201_2202delinsGT (p.Cys734=) | |
| 8 | g.54626063T>A | CA370992910 | RP1 | c.2181T>A (p.Cys727Ter) c.787+3775T>A (n.787+3775T>A) c.2202T>A (p.Cys734Ter) | |
| 8 | g.54626063T>C | CA461098702 | RP1 | c.2181T>C (p.Cys727=) c.787+3775T>C (n.787+3775T>C) c.2202T>C (p.Cys734=) | |
| 8 | g.54626063T>G | CA370992911 | RP1 | c.2181T>G (p.Cys727Trp) c.787+3775T>G (n.787+3775T>G) c.2202T>G (p.Cys734Trp) | |
| 8 | g.54626064G>A | CA370992912 | RP1 | c.2182G>A (p.Glu728Lys) c.787+3776G>A (n.787+3776G>A) c.2203G>A (p.Glu735Lys) | gnomAD v4 |
| 8 | g.54626064G>C | CA370992913 | RP1 | c.2182G>C (p.Glu728Gln) c.787+3776G>C (n.787+3776G>C) c.2203G>C (p.Glu735Gln) | |
| 8 | g.54626064G>T | CA370992914 | RP1 | c.2182G>T (p.Glu728Ter) c.787+3776G>T (n.787+3776G>T) c.2203G>T (p.Glu735Ter) | |
| 8 | g.54626065A>C | CA370992917 | RP1 | c.2183A>C (p.Glu728Ala) c.787+3777A>C (n.787+3777A>C) c.2204A>C (p.Glu735Ala) | |
| 8 | g.54626065A>G | CA370992916 | RP1 | c.2183A>G (p.Glu728Gly) c.787+3777A>G (n.787+3777A>G) c.2204A>G (p.Glu735Gly) | |
| 8 | g.54626065A>T | CA370992915 | RP1 | c.2183A>T (p.Glu728Val) c.787+3777A>T (n.787+3777A>T) c.2204A>T (p.Glu735Val) | |
| 8 | g.54626066G>A | CA461098706 | RP1 | c.2184G>A (p.Glu728=) c.787+3778G>A (n.787+3778G>A) c.2205G>A (p.Glu735=) | gnomAD v4 |
| 8 | g.54626066G>C | CA370992918 | RP1 | c.2184G>C (p.Glu728Asp) c.787+3778G>C (n.787+3778G>C) c.2205G>C (p.Glu735Asp) | ClinVar dbSNP |
| 8 | g.54626066G>T | CA370992919 | RP1 | c.2184G>T (p.Glu728Asp) c.787+3778G>T (n.787+3778G>T) c.2205G>T (p.Glu735Asp) | |
| 8 | g.54626067del | CA2580078391 | RP1 | c.2185del (p.Glu729LysfsTer9) c.787+3779del (n.787+3779del) c.2206del (p.Glu736LysfsTer9) | ClinVar |
| 8 | g.54626067G>A | CA370992920 | RP1 | c.2185G>A (p.Glu729Lys) c.787+3779G>A (n.787+3779G>A) c.2206G>A (p.Glu736Lys) | gnomAD v4 COSMIC |
| 8 | g.54626067G>C | CA370992921 | RP1 | c.2185G>C (p.Glu729Gln) c.787+3779G>C (n.787+3779G>C) c.2206G>C (p.Glu736Gln) | |
| 8 | g.54626067G>T | CA370992922 | RP1 | c.2185G>T (p.Glu729Ter) c.787+3779G>T (n.787+3779G>T) c.2206G>T (p.Glu736Ter) | ClinVar |
| 8 | g.54626069_54626071dup | CA2579168459 | RP1 | c.2187_2189dup (p.Glu729_Asp730insGlu) c.787+3781_787+3783dup (n.787+3781_787+3783dup) c.2208_2210dup (p.Glu736_Asp737insGlu) | gnomAD v4 |
| 8 | g.54626068A= | CA1785188146 | RP1 | c.2186A= (p.Glu729=) c.787+3780A= (n.787+3780A=) c.2207A= (p.Glu736=) | |
| 8 | g.54626068A>C | CA370992923 | RP1 | c.2186A>C (p.Glu729Ala) c.787+3780A>C (n.787+3780A>C) c.2207A>C (p.Glu736Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626068A>G | CA370992924 | RP1 | c.2186A>G (p.Glu729Gly) c.787+3780A>G (n.787+3780A>G) c.2207A>G (p.Glu736Gly) | |
| 8 | g.54626068A>T | CA370992925 | RP1 | c.2186A>T (p.Glu729Val) c.787+3780A>T (n.787+3780A>T) c.2207A>T (p.Glu736Val) | |
| 8 | g.54626069A= | CA1785188147 | RP1 | c.2187A= (p.Glu729=) c.787+3781A= (n.787+3781A=) c.2208A= (p.Glu736=) | |
| 8 | g.54626069A>C | CA370992926 | RP1 | c.2187A>C (p.Glu729Asp) c.787+3781A>C (n.787+3781A>C) c.2208A>C (p.Glu736Asp) | |
| 8 | g.54626069A>G | CA461098709 | RP1 | c.2187A>G (p.Glu729=) c.787+3781A>G (n.787+3781A>G) c.2208A>G (p.Glu736=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626069A>T | CA370992927 | RP1 | c.2187A>T (p.Glu729Asp) c.787+3781A>T (n.787+3781A>T) c.2208A>T (p.Glu736Asp) | COSMIC |
| 8 | g.54626070G>A | CA370992928 | RP1 | c.2188G>A (p.Asp730Asn) c.787+3782G>A (n.787+3782G>A) c.2209G>A (p.Asp737Asn) | gnomAD v4 |
| 8 | g.54626070G>C | CA177237046 | RP1 | c.2188G>C (p.Asp730His) c.787+3782G>C (n.787+3782G>C) c.2209G>C (p.Asp737His) | dbSNP gnomAD v4 |
| 8 | g.54626070G= | CA1785188148 | RP1 | c.2188G= (p.Asp730=) c.787+3782G= (n.787+3782G=) c.2209G= (p.Asp737=) | |
| 8 | g.54626070G>T | CA370992929 | RP1 | c.2188G>T (p.Asp730Tyr) c.787+3782G>T (n.787+3782G>T) c.2209G>T (p.Asp737Tyr) | |
| 8 | g.54626071A>C | CA370992931 | RP1 | c.2189A>C (p.Asp730Ala) c.787+3783A>C (n.787+3783A>C) c.2210A>C (p.Asp737Ala) | |
| 8 | g.54626071A>G | CA370992932 | RP1 | c.2189A>G (p.Asp730Gly) c.787+3783A>G (n.787+3783A>G) c.2210A>G (p.Asp737Gly) | |
| 8 | g.54626071A>T | CA370992930 | RP1 | c.2189A>T (p.Asp730Val) c.787+3783A>T (n.787+3783A>T) c.2210A>T (p.Asp737Val) | |
| 8 | g.54626072C>A | CA370992934 | RP1 | c.2190C>A (p.Asp730Glu) c.787+3784C>A (n.787+3784C>A) c.2211C>A (p.Asp737Glu) | |
| 8 | g.54626072C>G | CA370992933 | RP1 | c.2190C>G (p.Asp730Glu) c.787+3784C>G (n.787+3784C>G) c.2211C>G (p.Asp737Glu) | |
| 8 | g.54626072C>T | CA461098713 | RP1 | c.2190C>T (p.Asp730=) c.787+3784C>T (n.787+3784C>T) c.2211C>T (p.Asp737=) | |
| 8 | g.54626073del | CA2687301830 | RP1 | c.2191del (p.Leu731SerfsTer7) c.787+3785del (n.787+3785del) c.2212del (p.Leu738SerfsTer7) | gnomAD v4 |
| 8 | g.54626073C>A | CA370992937 | RP1 | c.2191C>A (p.Leu731Ile) c.787+3785C>A (n.787+3785C>A) c.2212C>A (p.Leu738Ile) | |
| 8 | g.54626073C>G | CA370992935 | RP1 | c.2191C>G (p.Leu731Val) c.787+3785C>G (n.787+3785C>G) c.2212C>G (p.Leu738Val) | |
| 8 | g.54626073C>T | CA370992936 | RP1 | c.2191C>T (p.Leu731Phe) c.787+3785C>T (n.787+3785C>T) c.2212C>T (p.Leu738Phe) |