| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.10622637_10622723dup | CA2580077999 | RP1L1 | c.481_567dup (p.Leu189_Arg190insAspProArgLeuGlnGlnThrValValLeuSerHisArgAsnThrArgAsnLeuAlaAlaPheLeuGlyLysAlaSerAspLeuLeu) n.731_817dup | ClinVar |
| 8 | g.10622715G>A | CA4625677 | RP1L1 | c.487C>T (p.Arg163Cys) n.737C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622715G>C | CA4625676 | RP1L1 | c.487C>G (p.Arg163Gly) n.737C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622715G= | CA1763389696 | RP1L1 | c.487C= (p.Arg163=) n.737C= | |
| 8 | g.10622715G>T | CA370300018 | RP1L1 | c.487C>A (p.Arg163Ser) n.737C>A | |
| 8 | g.10622716A= | CA1763389698 | RP1L1 | c.486T= (p.Pro162=) n.736T= | |
| 8 | g.10622716A>C | CA459620146 | RP1L1 | c.486T>G (p.Pro162=) n.736T>G | |
| 8 | g.10622716A>G | CA4625678 | RP1L1 | c.486T>C (p.Pro162=) n.736T>C | dbSNP ExAC gnomAD v2 |
| 8 | g.10622716A>T | CA459620144 | RP1L1 | c.486T>A (p.Pro162=) n.736T>A | |
| 8 | g.10622717G>A | CA370300022 | RP1L1 | c.485C>T (p.Pro162Leu) n.735C>T | |
| 8 | g.10622717G>C | CA4625679 | RP1L1 | c.485C>G (p.Pro162Arg) n.735C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10622717G= | CA1763389703 | RP1L1 | c.485C= (p.Pro162=) n.735C= | |
| 8 | g.10622717G>T | CA370300024 | RP1L1 | c.485C>A (p.Pro162His) n.735C>A | |
| 8 | g.10622719del | CA2739290045 | RP1L1 | c.485del (p.Pro162LeufsTer?) n.735del | |
| 8 | g.10622718G>A | CA370300025 | RP1L1 | c.484C>T (p.Pro162Ser) n.734C>T | ClinVar gnomAD v4 |
| 8 | g.10622718G>C | CA370300026 | RP1L1 | c.484C>G (p.Pro162Ala) n.734C>G | ClinVar dbSNP gnomAD v4 |
| 8 | g.10622718G= | CA1763389705 | RP1L1 | c.484C= (p.Pro162=) n.734C= | |
| 8 | g.10622718G>T | CA4625680 | RP1L1 | c.484C>A (p.Pro162Thr) n.734C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622719G>A | CA459620147 | RP1L1 | c.483C>T (p.Asp161=) n.733C>T | dbSNP gnomAD v4 |
| 8 | g.10622719G>C | CA370300027 | RP1L1 | c.483C>G (p.Asp161Glu) n.733C>G | |
| 8 | g.10622719G= | CA1763389707 | RP1L1 | c.483C= (p.Asp161=) n.733C= | |
| 8 | g.10622719G>T | CA370300028 | RP1L1 | c.483C>A (p.Asp161Glu) n.733C>A | dbSNP |
| 8 | g.10622720T>A | CA370300029 | RP1L1 | c.482A>T (p.Asp161Val) n.732A>T | |
| 8 | g.10622720T>C | CA171954662 | RP1L1 | c.482A>G (p.Asp161Gly) n.732A>G | dbSNP gnomAD v4 |
| 8 | g.10622720T>G | CA370300031 | RP1L1 | c.482A>C (p.Asp161Ala) n.732A>C | dbSNP |
| 8 | g.10622720T= | CA1763389708 | RP1L1 | c.482A= (p.Asp161=) n.732A= | |
| 8 | g.10622721C>A | CA370300035 | RP1L1 | c.481G>T (p.Asp161Tyr) n.731G>T | |
| 8 | g.10622721C>G | CA370300034 | RP1L1 | c.481G>C (p.Asp161His) n.731G>C | gnomAD v4 |
| 8 | g.10622721C>T | CA370300033 | RP1L1 | c.481G>A (p.Asp161Asn) n.731G>A | gnomAD v4 |
| 8 | g.10622722C>A | CA171954664 | RP1L1 | c.480G>T (p.Met160Ile) n.730G>T | ClinVar dbSNP gnomAD v4 |
| 8 | g.10622722C= | CA1763389709 | RP1L1 | c.480G= (p.Met160=) n.730G= | |
| 8 | g.10622722C>G | CA370300038 | RP1L1 | c.480G>C (p.Met160Ile) n.730G>C | |
| 8 | g.10622722C>T | CA370300039 | RP1L1 | c.480G>A (p.Met160Ile) n.730G>A | |
| 8 | g.10622722_10622723del | CA2779033562 | RP1L1 | c.479_480del (p.Met160ArgfsTer16) n.729_730del | |
| 8 | g.10622723A= | CA1763389712 | RP1L1 | c.479T= (p.Met160=) n.729T= | |
| 8 | g.10622723A>C | CA370300040 | RP1L1 | c.479T>G (p.Met160Arg) n.729T>G | |
| 8 | g.10622723A>G | CA370300041 | RP1L1 | c.479T>C (p.Met160Thr) n.729T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622723A>T | CA370300042 | RP1L1 | c.479T>A (p.Met160Lys) n.729T>A | |
| 8 | g.10622723_10622724insGGAGA | CA2686114438 | RP1L1 | c.479_480insCTCCT (p.Met160IlefsTer?) n.729_730insCTCCT | gnomAD v4 |
| 8 | g.10622723_10622724insGGAGATCTGAGGCTTTGCCGAGAAA | CA2686114439 | RP1L1 | c.479_480insTTCTCGGCAAAGCCTCAGATCTCCT (p.Met160IlefsTer25) n.729_730insTTCTCGGCAAAGCCTCAGATCTCCT | gnomAD v4 |
| 8 | g.10622724T>A | CA370300043 | RP1L1 | c.478A>T (p.Met160Leu) n.728A>T | |
| 8 | g.10622724T>C | CA4625681 | RP1L1 | c.478A>G (p.Met160Val) n.728A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10622724T>G | CA370300045 | RP1L1 | c.478A>C (p.Met160Leu) n.728A>C | ClinVar dbSNP gnomAD v4 |
| 8 | g.10622724T= | CA1763389713 | RP1L1 | c.478A= (p.Met160=) n.728A= | |
| 8 | g.10622724_10622725insCTGAGGCTTTGCCGAGAAAGGCGGCCAG | CA2686114443 | RP1L1 | c.477_478insCTGGCCGCCTTTCTCGGCAAAGCCTCAG (p.Met160LeufsTer26) n.727_728insCTGGCCGCCTTTCTCGGCAAAGCCTCAG | gnomAD v4 |
| 8 | g.10622725G>A | CA4625684 | RP1L1 | c.477C>T (p.Asn159=) n.727C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622725G>C | CA4625683 | RP1L1 | c.477C>G (p.Asn159Lys) n.727C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10622725G= | CA1763389718 | RP1L1 | c.477C= (p.Asn159=) n.727C= | |
| 8 | g.10622725G>T | CA4625682 | RP1L1 | c.477C>A (p.Asn159Lys) n.727C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622726T>A | CA370300050 | RP1L1 | c.476A>T (p.Asn159Ile) n.726A>T | |
| 8 | g.10622726T>C | CA370300049 | RP1L1 | c.476A>G (p.Asn159Ser) n.726A>G | ClinVar gnomAD v4 |
| 8 | g.10622726T>G | CA370300048 | RP1L1 | c.476A>C (p.Asn159Thr) n.726A>C | |
| 8 | g.10622727T>A | CA4625685 | RP1L1 | c.475A>T (p.Asn159Tyr) n.725A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10622727T>C | CA370300052 | RP1L1 | c.475A>G (p.Asn159Asp) n.725A>G | |
| 8 | g.10622727T>G | CA370300053 | RP1L1 | c.475A>C (p.Asn159His) n.725A>C | |
| 8 | g.10622727T= | CA1763389721 | RP1L1 | c.475A= (p.Asn159=) n.725A= | |
| 8 | g.10622728C>A | CA370300055 | RP1L1 | c.474G>T (p.Lys158Asn) n.724G>T | |
| 8 | g.10622728C= | CA1763389722 | RP1L1 | c.474G= (p.Lys158=) n.724G= | |
| 8 | g.10622728C>G | CA370300056 | RP1L1 | c.474G>C (p.Lys158Asn) n.724G>C | COSMIC |
| 8 | g.10622728C>T | CA459620153 | RP1L1 | c.474G>A (p.Lys158=) n.724G>A | dbSNP |
| 8 | g.10622729T>A | CA370300058 | RP1L1 | c.473A>T (p.Lys158Met) n.723A>T | |
| 8 | g.10622729T>C | CA370300060 | RP1L1 | c.473A>G (p.Lys158Arg) n.723A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10622729T>G | CA370300061 | RP1L1 | c.473A>C (p.Lys158Thr) n.723A>C | dbSNP |
| 8 | g.10622729T= | CA1763389726 | RP1L1 | c.473A= (p.Lys158=) n.723A= | |
| 8 | g.10622730T>A | CA370300063 | RP1L1 | c.472A>T (p.Lys158Ter) n.722A>T | |
| 8 | g.10622730T>C | CA370300065 | RP1L1 | c.472A>G (p.Lys158Glu) n.722A>G | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10622730T>G | CA370300064 | RP1L1 | c.472A>C (p.Lys158Gln) n.722A>C | |
| 8 | g.10622730T= | CA1763389727 | RP1L1 | c.472A= (p.Lys158=) n.722A= | |
| 8 | g.10622731A>C | CA370300066 | RP1L1 | c.471T>G (p.Ile157Met) n.721T>G | ClinVar dbSNP |
| 8 | g.10622731A>G | CA459620155 | RP1L1 | c.471T>C (p.Ile157=) n.721T>C | |
| 8 | g.10622731A>T | CA459620156 | RP1L1 | c.471T>A (p.Ile157=) n.721T>A | |
| 8 | g.10622732A= | CA1763389729 | RP1L1 | c.470T= (p.Ile157=) n.720T= | |
| 8 | g.10622732A>C | CA370300067 | RP1L1 | c.470T>G (p.Ile157Ser) n.720T>G | |
| 8 | g.10622732A>G | CA370300068 | RP1L1 | c.470T>C (p.Ile157Thr) n.720T>C | dbSNP |
| 8 | g.10622732A>T | CA370300070 | RP1L1 | c.470T>A (p.Ile157Asn) n.720T>A | |
| 8 | g.10622733T>A | CA370300071 | RP1L1 | c.469A>T (p.Ile157Phe) n.719A>T | |
| 8 | g.10622733T>C | CA370300073 | RP1L1 | c.469A>G (p.Ile157Val) n.719A>G | dbSNP gnomAD v4 |
| 8 | g.10622733T>G | CA370300072 | RP1L1 | c.469A>C (p.Ile157Leu) n.719A>C | |
| 8 | g.10622733T= | CA1763389731 | RP1L1 | c.469A= (p.Ile157=) n.719A= | |
| 8 | g.10622733_10622736delinsTCAG | CA1763389730 | RP1L1 | c.466_469delinsCTGA (p.Leu156=) n.716_719delinsCTGA | |
| 8 | g.10622734C>A | CA459620159 | RP1L1 | c.468G>T (p.Leu156=) n.718G>T | |
| 8 | g.10622734C>G | CA459620161 | RP1L1 | c.468G>C (p.Leu156=) n.718G>C | |
| 8 | g.10622734C>T | CA459620162 | RP1L1 | c.468G>A (p.Leu156=) n.718G>A | |
| 8 | g.10622737_10622739del | CA580030559 | RP1L1 | c.466_468del (p.Leu156del) n.716_718del | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10622735A= | CA1763389732 | RP1L1 | c.467T= (p.Leu156=) n.717T= | |
| 8 | g.10622735A>C | CA370300075 | RP1L1 | c.467T>G (p.Leu156Arg) n.717T>G | |
| 8 | g.10622735A>G | CA370300077 | RP1L1 | c.467T>C (p.Leu156Pro) n.717T>C | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10622735A>T | CA370300078 | RP1L1 | c.467T>A (p.Leu156Gln) n.717T>A | |
| 8 | g.10622736G>A | CA459620163 | RP1L1 | c.466C>T (p.Leu156=) n.716C>T | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10622736G>C | CA370300080 | RP1L1 | c.466C>G (p.Leu156Val) n.716C>G | gnomAD v4 |
| 8 | g.10622736G= | CA1763389735 | RP1L1 | c.466C= (p.Leu156=) n.716C= | |
| 8 | g.10622736G>T | CA370300081 | RP1L1 | c.466C>A (p.Leu156Met) n.716C>A | |
| 8 | g.10622737C>A | CA459620164 | RP1L1 | c.465G>T (p.Leu155=) n.715G>T | |
| 8 | g.10622737C= | CA1763389738 | RP1L1 | c.465G= (p.Leu155=) n.715G= | |
| 8 | g.10622737C>G | CA4625686 | RP1L1 | c.465G>C (p.Leu155=) n.715G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10622737C>T | CA459620165 | RP1L1 | c.465G>A (p.Leu155=) n.715G>A | gnomAD v4 |
| 8 | g.10622738A>C | CA370300082 | RP1L1 | c.464T>G (p.Leu155Arg) n.714T>G | |
| 8 | g.10622738A>G | CA370300083 | RP1L1 | c.464T>C (p.Leu155Pro) n.714T>C | |
| 8 | g.10622738A>T | CA370300084 | RP1L1 | c.464T>A (p.Leu155Gln) n.714T>A | |
| 8 | g.10622739G>A | CA459620167 | RP1L1 | c.463C>T (p.Leu155=) n.713C>T | dbSNP |
| 8 | g.10622739G>C | CA370300086 | RP1L1 | c.463C>G (p.Leu155Val) n.713C>G | gnomAD v4 |
| 8 | g.10622739G= | CA1763389742 | RP1L1 | c.463C= (p.Leu155=) n.713C= | |
| 8 | g.10622739G>T | CA370300088 | RP1L1 | c.463C>A (p.Leu155Met) n.713C>A | |
| 8 | g.10622740T>A | CA459620168 | RP1L1 | c.462A>T (p.Ile154=) n.712A>T | |
| 8 | g.10622740T>C | CA370300089 | RP1L1 | c.462A>G (p.Ile154Met) n.712A>G | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10622740T>G | CA459620169 | RP1L1 | c.462A>C (p.Ile154=) n.712A>C | |
| 8 | g.10622740T= | CA1763389743 | RP1L1 | c.462A= (p.Ile154=) n.712A= | |
| 8 | g.10622741A= | CA1763389744 | RP1L1 | c.461T= (p.Ile154=) n.711T= | |
| 8 | g.10622741A>C | CA370300091 | RP1L1 | c.461T>G (p.Ile154Arg) n.711T>G | |
| 8 | g.10622741A>G | CA370300093 | RP1L1 | c.461T>C (p.Ile154Thr) n.711T>C | gnomAD v4 |
| 8 | g.10622741A>T | CA370300092 | RP1L1 | c.461T>A (p.Ile154Lys) n.711T>A | |
| 8 | g.10622742T>A | CA370300095 | RP1L1 | c.460A>T (p.Ile154Leu) n.710A>T | dbSNP gnomAD v4 |
| 8 | g.10622742T>C | CA370300096 | RP1L1 | c.460A>G (p.Ile154Val) n.710A>G | ClinVar gnomAD v4 |
| 8 | g.10622742T>G | CA370300098 | RP1L1 | c.460A>C (p.Ile154Leu) n.710A>C | |
| 8 | g.10622742T= | CA1763389745 | RP1L1 | c.460A= (p.Ile154=) n.710A= | |
| 8 | g.10622742dup | CA845136104 | RP1L1 | c.460dup (p.Ile154AsnfsTer5) n.710dup | ClinVar dbSNP gnomAD v4 |
| 8 | g.10622743C>A | CA4625687 | RP1L1 | c.459G>T (p.Arg153Ser) n.709G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622743C= | CA1763389750 | RP1L1 | c.459G= (p.Arg153=) n.709G= | |
| 8 | g.10622743C>G | CA370300100 | RP1L1 | c.459G>C (p.Arg153Ser) n.709G>C | gnomAD v4 |
| 8 | g.10622743C>T | CA459620173 | RP1L1 | c.459G>A (p.Arg153=) n.709G>A | dbSNP gnomAD v4 COSMIC |
| 8 | g.10622744C>A | CA370300102 | RP1L1 | c.458G>T (p.Arg153Met) n.708G>T | |
| 8 | g.10622744C= | CA1763389751 | RP1L1 | c.458G= (p.Arg153=) n.708G= | |
| 8 | g.10622744C>G | CA370300103 | RP1L1 | c.458G>C (p.Arg153Thr) n.708G>C | |
| 8 | g.10622744C>T | CA370300105 | RP1L1 | c.458G>A (p.Arg153Lys) n.708G>A | dbSNP gnomAD v4 |
| 8 | g.10622745T>A | CA370300106 | RP1L1 | c.457A>T (p.Arg153Trp) n.707A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622745T>C | CA370300108 | RP1L1 | c.457A>G (p.Arg153Gly) n.707A>G | |
| 8 | g.10622745T>G | CA459620175 | RP1L1 | c.457A>C (p.Arg153=) n.707A>C | |
| 8 | g.10622745T= | CA1763389752 | RP1L1 | c.457A= (p.Arg153=) n.707A= | |
| 8 | g.10622746C>A | CA459620176 | RP1L1 | c.456G>T (p.Arg152=) n.706G>T | gnomAD v4 |
| 8 | g.10622746C>G | CA459620177 | RP1L1 | c.456G>C (p.Arg152=) n.706G>C | |
| 8 | g.10622746C>T | CA459620178 | RP1L1 | c.456G>A (p.Arg152=) n.706G>A | gnomAD v4 |
| 8 | g.10622747C>A | CA370300110 | RP1L1 | c.455G>T (p.Arg152Leu) n.705G>T | |
| 8 | g.10622747C= | CA1763389756 | RP1L1 | c.455G= (p.Arg152=) n.705G= | |
| 8 | g.10622747C>G | CA370300112 | RP1L1 | c.455G>C (p.Arg152Pro) n.705G>C | |
| 8 | g.10622747C>T | CA4625688 | RP1L1 | c.455G>A (p.Arg152Gln) n.705G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622747_10622748delinsCG | CA1763389758 | RP1L1 | c.454_455delinsCG (p.Arg152=) n.704_705delinsCG | |
| 8 | g.10622748G>A | CA370300114 | RP1L1 | c.454C>T (p.Arg152Trp) n.704C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.10622748G>C | CA4625690 | RP1L1 | c.454C>G (p.Arg152Gly) n.704C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622748G= | CA1763389761 | RP1L1 | c.454C= (p.Arg152=) n.704C= | |
| 8 | g.10622748G>T | CA459620181 | RP1L1 | c.454C>A (p.Arg152=) n.704C>A | |
| 8 | g.10622753dup | CA4625689 | RP1L1 | c.454dup (p.Arg152ProfsTer7) n.704dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622753del | CA1110648153 | RP1L1 | c.454del (p.Arg152GlyfsTer5) n.704del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10622749_10622828dup | CA2779033567 | RP1L1 | c.375_454dup (p.Arg152LeufsTer32) n.625_704dup | |
| 8 | g.10622749G>A | CA4625691 | RP1L1 | c.453C>T (p.Pro151=) n.703C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622749G>C | CA459620182 | RP1L1 | c.453C>G (p.Pro151=) n.703C>G | |
| 8 | g.10622749G= | CA1763389763 | RP1L1 | c.453C= (p.Pro151=) n.703C= | |
| 8 | g.10622749G>T | CA459620183 | RP1L1 | c.453C>A (p.Pro151=) n.703C>A | |
| 8 | g.10622750G>A | CA370300119 | RP1L1 | c.452C>T (p.Pro151Leu) n.702C>T | gnomAD v4 COSMIC |
| 8 | g.10622750G>C | CA171954679 | RP1L1 | c.452C>G (p.Pro151Arg) n.702C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622750G= | CA1763389767 | RP1L1 | c.452C= (p.Pro151=) n.702C= | |
| 8 | g.10622750G>T | CA4625692 | RP1L1 | c.452C>A (p.Pro151His) n.702C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622751G>A | CA370300122 | RP1L1 | c.451C>T (p.Pro151Ser) n.701C>T | ClinVar gnomAD v4 |
| 8 | g.10622751G>C | CA370300123 | RP1L1 | c.451C>G (p.Pro151Ala) n.701C>G | |
| 8 | g.10622751G>T | CA370300124 | RP1L1 | c.451C>A (p.Pro151Thr) n.701C>A | gnomAD v4 |
| 8 | g.10622752G>A | CA4625693 | RP1L1 | c.450C>T (p.Thr150=) n.700C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622752G>C | CA459620184 | RP1L1 | c.450C>G (p.Thr150=) n.700C>G | |
| 8 | g.10622752G= | CA1763389771 | RP1L1 | c.450C= (p.Thr150=) n.700C= | |
| 8 | g.10622752G>T | CA459620185 | RP1L1 | c.450C>A (p.Thr150=) n.700C>A | gnomAD v4 |
| 8 | g.10622753G>A | CA370300127 | RP1L1 | c.449C>T (p.Thr150Ile) n.699C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10622753G>C | CA4625694 | RP1L1 | c.449C>G (p.Thr150Ser) n.699C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622753G= | CA1763389776 | RP1L1 | c.449C= (p.Thr150=) n.699C= | |
| 8 | g.10622753G>T | CA370300129 | RP1L1 | c.449C>A (p.Thr150Asn) n.699C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622754T>A | CA370300131 | RP1L1 | c.448A>T (p.Thr150Ser) n.698A>T | |
| 8 | g.10622754T>C | CA4625695 | RP1L1 | c.448A>G (p.Thr150Ala) n.698A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622754T>G | CA4625696 | RP1L1 | c.448A>C (p.Thr150Pro) n.698A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.10622754T= | CA1763389779 | RP1L1 | c.448A= (p.Thr150=) n.698A= | |
| 8 | g.10622755T>A | CA370300135 | RP1L1 | c.447A>T (p.Lys149Asn) n.697A>T | |
| 8 | g.10622755T>C | CA459620190 | RP1L1 | c.447A>G (p.Lys149=) n.697A>G | dbSNP |
| 8 | g.10622755T>G | CA370300136 | RP1L1 | c.447A>C (p.Lys149Asn) n.697A>C | |
| 8 | g.10622755T= | CA1763389780 | RP1L1 | c.447A= (p.Lys149=) n.697A= | |
| 8 | g.10622756T>A | CA370300137 | RP1L1 | c.446A>T (p.Lys149Ile) n.696A>T | |
| 8 | g.10622756T>C | CA370300139 | RP1L1 | c.446A>G (p.Lys149Arg) n.696A>G | |
| 8 | g.10622756T>G | CA370300138 | RP1L1 | c.446A>C (p.Lys149Thr) n.696A>C | |
| 8 | g.10622756_10622758delinsTTA | CA1763389781 | RP1L1 | c.444_446delinsTAA (p.Leu148=) n.694_696delinsTAA | |
| 8 | g.10622757T>A | CA370300140 | RP1L1 | c.445A>T (p.Lys149Ter) n.695A>T | |
| 8 | g.10622757T>C | CA4625697 | RP1L1 | c.445A>G (p.Lys149Glu) n.695A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10622757T>G | CA370300142 | RP1L1 | c.445A>C (p.Lys149Gln) n.695A>C | |
| 8 | g.10622757T= | CA1763389784 | RP1L1 | c.445A= (p.Lys149=) n.695A= | |
| 8 | g.10622757_10622758del | CA918199342 | RP1L1 | c.444_445del (p.Lys149AsnfsTer9) n.694_695del | dbSNP gnomAD v4 |
| 8 | g.10622758A= | CA1763389789 | RP1L1 | c.444T= (p.Leu148=) n.694T= | |
| 8 | g.10622758A>C | CA4625698 | RP1L1 | c.444T>G (p.Leu148=) n.694T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622758A>G | CA459620192 | RP1L1 | c.444T>C (p.Leu148=) n.694T>C | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10622758A>T | CA459620193 | RP1L1 | c.444T>A (p.Leu148=) n.694T>A | |
| 8 | g.10622759A= | CA1763389791 | RP1L1 | c.443T= (p.Leu148=) n.693T= | |
| 8 | g.10622759A>C | CA370300144 | RP1L1 | c.443T>G (p.Leu148Arg) n.693T>G | |
| 8 | g.10622759A>G | CA370300150 | RP1L1 | c.443T>C (p.Leu148Pro) n.693T>C | dbSNP gnomAD v4 |
| 8 | g.10622759A>T | CA370300151 | RP1L1 | c.443T>A (p.Leu148His) n.693T>A | |
| 8 | g.10622760G>A | CA370300152 | RP1L1 | c.442C>T (p.Leu148Phe) n.692C>T | gnomAD v4 |
| 8 | g.10622760G>C | CA370300153 | RP1L1 | c.442C>G (p.Leu148Val) n.692C>G | ClinVar dbSNP gnomAD v4 |
| 8 | g.10622760G= | CA1763389792 | RP1L1 | c.442C= (p.Leu148=) n.692C= | |
| 8 | g.10622760G>T | CA370300155 | RP1L1 | c.442C>A (p.Leu148Ile) n.692C>A | |
| 8 | g.10622761A>C | CA370300156 | RP1L1 | c.441T>G (p.Ser147Arg) n.691T>G | |
| 8 | g.10622761A>G | CA459620198 | RP1L1 | c.441T>C (p.Ser147=) n.691T>C | gnomAD v4 |
| 8 | g.10622761A>T | CA370300157 | RP1L1 | c.441T>A (p.Ser147Arg) n.691T>A | |
| 8 | g.10622762C>A | CA370300160 | RP1L1 | c.440G>T (p.Ser147Ile) n.690G>T | dbSNP gnomAD v4 |
| 8 | g.10622762C= | CA1763389793 | RP1L1 | c.440G= (p.Ser147=) n.690G= | |
| 8 | g.10622762C>G | CA171954689 | RP1L1 | c.440G>C (p.Ser147Thr) n.690G>C | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10622762C>T | CA370300159 | RP1L1 | c.440G>A (p.Ser147Asn) n.690G>A | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10622764_10622765del | CA2580614306 | RP1L1 | c.439_440del (p.Leu148Ter) n.689_690del | ClinVar |
| 8 | g.10622763T>A | CA370300161 | RP1L1 | c.439A>T (p.Ser147Cys) n.689A>T | |
| 8 | g.10622763T>C | CA370300163 | RP1L1 | c.439A>G (p.Ser147Gly) n.689A>G | dbSNP gnomAD v4 |
| 8 | g.10622763T>G | CA370300165 | RP1L1 | c.439A>C (p.Ser147Arg) n.689A>C | |
| 8 | g.10622763T= | CA1763389797 | RP1L1 | c.439A= (p.Ser147=) n.689A= | |
| 8 | g.10622764C>A | CA4625699 | RP1L1 | c.438G>T (p.Lys146Asn) n.688G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10622764C= | CA1763389798 | RP1L1 | c.438G= (p.Lys146=) n.688G= | |
| 8 | g.10622764C>G | CA370300168 | RP1L1 | c.438G>C (p.Lys146Asn) n.688G>C | |
| 8 | g.10622764C>T | CA459620203 | RP1L1 | c.438G>A (p.Lys146=) n.688G>A | dbSNP gnomAD v4 |
| 8 | g.10622768_10622793del | CA2779033570 | RP1L1 | c.413_438del (p.Ala138GlufsTer3) n.663_688del | |
| 8 | g.10622765T>A | CA370300170 | RP1L1 | c.437A>T (p.Lys146Met) n.687A>T | |
| 8 | g.10622765T>C | CA370300171 | RP1L1 | c.437A>G (p.Lys146Arg) n.687A>G | dbSNP gnomAD v4 |
| 8 | g.10622765T>G | CA370300172 | RP1L1 | c.437A>C (p.Lys146Thr) n.687A>C | |
| 8 | g.10622765_10622766insAG | CA2779033571 | RP1L1 | c.436_437insCT (p.Lys146ThrfsTer12) n.686_687insCT | |
| 8 | g.10622766T>A | CA370300173 | RP1L1 | c.436A>T (p.Lys146Ter) n.686A>T | |
| 8 | g.10622766T>C | CA370300174 | RP1L1 | c.436A>G (p.Lys146Glu) n.686A>G | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10622766T>G | CA370300176 | RP1L1 | c.436A>C (p.Lys146Gln) n.686A>C | |
| 8 | g.10622766T= | CA1763389803 | RP1L1 | c.436A= (p.Lys146=) n.686A= | |
| 8 | g.10622766_10622767delinsTC | CA1763389802 | RP1L1 | c.435_436delinsGA (p.Arg145=) n.685_686delinsGA | |
| 8 | g.10622767C>A | CA459620206 | RP1L1 | c.435G>T (p.Arg145=) n.685G>T | |
| 8 | g.10622767C= | CA1763389806 | RP1L1 | c.435G= (p.Arg145=) n.685G= | |
| 8 | g.10622767C>G | CA459620208 | RP1L1 | c.435G>C (p.Arg145=) n.685G>C | |
| 8 | g.10622767C>T | CA459620209 | RP1L1 | c.435G>A (p.Arg145=) n.685G>A | ClinVar dbSNP gnomAD v4 |
| 8 | g.10622767_10622768del | CA2779033572 | RP1L1 | c.434_435del (p.Arg145GlnfsTer4) n.684_685del | |
| 8 | g.10622768del | CA4625700 | RP1L1 | c.435del (p.Lys146ArgfsTer11) n.685del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622768C>A | CA370300178 | RP1L1 | c.434G>T (p.Arg145Leu) n.684G>T | |
| 8 | g.10622768C= | CA1763389808 | RP1L1 | c.434G= (p.Arg145=) n.684G= | |
| 8 | g.10622768C>G | CA4625702 | RP1L1 | c.434G>C (p.Arg145Pro) n.684G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10622768C>T | CA4625701 | RP1L1 | c.434G>A (p.Arg145Gln) n.684G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622769G>A | CA4625704 | RP1L1 | c.433C>T (p.Arg145Trp) n.683C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.10622769G>C | CA370300180 | RP1L1 | c.433C>G (p.Arg145Gly) n.683C>G | |
| 8 | g.10622769G= | CA1763389809 | RP1L1 | c.433C= (p.Arg145=) n.683C= | |
| 8 | g.10622769G>T | CA459620215 | RP1L1 | c.433C>A (p.Arg145=) n.683C>A | dbSNP |
| 8 | g.10622769_10622772delinsGGGA | CA1763389811 | RP1L1 | c.430_433delinsTCCC (p.Ser144=) n.680_683delinsTCCC | |
| 8 | g.10622770G>A | CA459620219 | RP1L1 | c.432C>T (p.Ser144=) n.682C>T | |
| 8 | g.10622770G>C | CA459620218 | RP1L1 | c.432C>G (p.Ser144=) n.682C>G | |
| 8 | g.10622770G>T | CA459620217 | RP1L1 | c.432C>A (p.Ser144=) n.682C>A | |
| 8 | g.10622778_10622780dup | CA916082971 | RP1L1 | c.430_432dup (p.Ser144_Arg145insSer) n.680_682dup | ClinVar dbSNP |
| 8 | g.10622778_10622780del | CA4625703 | RP1L1 | c.430_432del (p.Ser144del) n.680_682del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622771G>A | CA370300182 | RP1L1 | c.431C>T (p.Ser144Phe) n.681C>T | dbSNP |
| 8 | g.10622771G>C | CA370300183 | RP1L1 | c.431C>G (p.Ser144Cys) n.681C>G | |
| 8 | g.10622771G= | CA1763389816 | RP1L1 | c.431C= (p.Ser144=) n.681C= | |
| 8 | g.10622771G>T | CA171954699 | RP1L1 | c.431C>A (p.Ser144Tyr) n.681C>A | dbSNP gnomAD v4 |
| 8 | g.10622772A>C | CA370300185 | RP1L1 | c.430T>G (p.Ser144Ala) n.680T>G | |
| 8 | g.10622772A>G | CA370300187 | RP1L1 | c.430T>C (p.Ser144Pro) n.680T>C | |
| 8 | g.10622772A>T | CA370300189 | RP1L1 | c.430T>A (p.Ser144Thr) n.680T>A | |
| 8 | g.10622773G>A | CA4625705 | RP1L1 | c.429C>T (p.Ser143=) n.679C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10622773G>C | CA459620221 | RP1L1 | c.429C>G (p.Ser143=) n.679C>G | ClinVar dbSNP gnomAD v4 |
| 8 | g.10622773G= | CA1763389818 | RP1L1 | c.429C= (p.Ser143=) n.679C= | |
| 8 | g.10622773G>T | CA459620222 | RP1L1 | c.429C>A (p.Ser143=) n.679C>A | gnomAD v4 |
| 8 | g.10622774G>A | CA4625706 | RP1L1 | c.428C>T (p.Ser143Phe) n.678C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622774G>C | CA370300195 | RP1L1 | c.428C>G (p.Ser143Cys) n.678C>G | |
| 8 | g.10622774G= | CA1763389820 | RP1L1 | c.428C= (p.Ser143=) n.678C= | |
| 8 | g.10622774G>T | CA370300192 | RP1L1 | c.428C>A (p.Ser143Tyr) n.678C>A | ClinVar dbSNP |
| 8 | g.10622775A>C | CA370300197 | RP1L1 | c.427T>G (p.Ser143Ala) n.677T>G | |
| 8 | g.10622775A>G | CA370300198 | RP1L1 | c.427T>C (p.Ser143Pro) n.677T>C | |
| 8 | g.10622775A>T | CA370300199 | RP1L1 | c.427T>A (p.Ser143Thr) n.677T>A | |
| 8 | g.10622776G>A | CA459620226 | RP1L1 | c.426C>T (p.Ser142=) n.676C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10622776G>C | CA459620227 | RP1L1 | c.426C>G (p.Ser142=) n.676C>G | gnomAD v4 |
| 8 | g.10622776G= | CA1763389822 | RP1L1 | c.426C= (p.Ser142=) n.676C= | |
| 8 | g.10622776G>T | CA4625707 | RP1L1 | c.426C>A (p.Ser142=) n.676C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622777G>A | CA370300201 | RP1L1 | c.425C>T (p.Ser142Phe) n.675C>T | |
| 8 | g.10622777G>C | CA370300202 | RP1L1 | c.425C>G (p.Ser142Cys) n.675C>G | |
| 8 | g.10622777G>T | CA370300204 | RP1L1 | c.425C>A (p.Ser142Tyr) n.675C>A | |
| 8 | g.10622778A= | CA1763389824 | RP1L1 | c.424T= (p.Ser142=) n.674T= | |
| 8 | g.10622778A>C | CA4625708 | RP1L1 | c.424T>G (p.Ser142Ala) n.674T>G | ClinVar dbSNP ExAC gnomAD v2 |
| 8 | g.10622778A>G | CA370300206 | RP1L1 | c.424T>C (p.Ser142Pro) n.674T>C | |
| 8 | g.10622778A>T | CA370300208 | RP1L1 | c.424T>A (p.Ser142Thr) n.674T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10622779G>A | CA459620231 | RP1L1 | c.423C>T (p.Thr141=) n.673C>T | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10622779G>C | CA171954705 | RP1L1 | c.423C>G (p.Thr141=) n.673C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10622779G= | CA1763389827 | RP1L1 | c.423C= (p.Thr141=) n.673C= | |
| 8 | g.10622779G>T | CA459620233 | RP1L1 | c.423C>A (p.Thr141=) n.673C>A | |
| 8 | g.10622780G>A | CA370300210 | RP1L1 | c.422C>T (p.Thr141Ile) n.672C>T | gnomAD v4 |
| 8 | g.10622780G>C | CA370300211 | RP1L1 | c.422C>G (p.Thr141Ser) n.672C>G | |
| 8 | g.10622780G>T | CA370300215 | RP1L1 | c.422C>A (p.Thr141Asn) n.672C>A | ClinVar gnomAD v4 |
| 8 | g.10622781T>A | CA370300219 | RP1L1 | c.421A>T (p.Thr141Ser) n.671A>T | |
| 8 | g.10622781T>C | CA370300217 | RP1L1 | c.421A>G (p.Thr141Ala) n.671A>G | gnomAD v4 |
| 8 | g.10622781T>G | CA370300216 | RP1L1 | c.421A>C (p.Thr141Pro) n.671A>C | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.10622781T= | CA1763389830 | RP1L1 | c.421A= (p.Thr141=) n.671A= | |
| 8 | g.10622782G>A | CA4625710 | RP1L1 | c.420C>T (p.Gly140=) n.670C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622782G>C | CA459620281 | RP1L1 | c.420C>G (p.Gly140=) n.670C>G | |
| 8 | g.10622782G= | CA1763389835 | RP1L1 | c.420C= (p.Gly140=) n.670C= | |
| 8 | g.10622782G>T | CA4625709 | RP1L1 | c.420C>A (p.Gly140=) n.670C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622783C>A | CA370300221 | RP1L1 | c.419G>T (p.Gly140Val) n.669G>T | gnomAD v4 |
| 8 | g.10622783C>G | CA370300222 | RP1L1 | c.419G>C (p.Gly140Ala) n.669G>C | |
| 8 | g.10622783C>T | CA370300223 | RP1L1 | c.419G>A (p.Gly140Asp) n.669G>A | gnomAD v4 COSMIC |
| 8 | g.10622784dup | CA4625711 | RP1L1 | c.419dup (p.Thr141HisfsTer9) n.669dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10622784C>A | CA370300224 | RP1L1 | c.418G>T (p.Gly140Cys) n.668G>T | |
| 8 | g.10622784C>G | CA370300226 | RP1L1 | c.418G>C (p.Gly140Arg) n.668G>C | |
| 8 | g.10622784C>T | CA370300227 | RP1L1 | c.418G>A (p.Gly140Ser) n.668G>A | gnomAD v4 |
| 8 | g.10622784_10622785delinsCT | CA1763389838 | RP1L1 | c.417_418delinsAG (p.Pro139=) n.667_668delinsAG | |
| 8 | g.10622785del | CA171954710 | RP1L1 | c.417del (p.Gly140AlafsTer17) n.667del | dbSNP |
| 8 | g.10622785T>A | CA459620283 | RP1L1 | c.417A>T (p.Pro139=) n.667A>T | |
| 8 | g.10622785T>C | CA459620284 | RP1L1 | c.417A>G (p.Pro139=) n.667A>G | dbSNP gnomAD v4 |
| 8 | g.10622785T>G | CA459620285 | RP1L1 | c.417A>C (p.Pro139=) n.667A>C | |
| 8 | g.10622785T= | CA1763389840 | RP1L1 | c.417A= (p.Pro139=) n.667A= | |
| 8 | g.10622786G>A | CA4625713 | RP1L1 | c.416C>T (p.Pro139Leu) n.666C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622786G>C | CA370300231 | RP1L1 | c.416C>G (p.Pro139Arg) n.666C>G | gnomAD v4 |
| 8 | g.10622786G= | CA1763389843 | RP1L1 | c.416C= (p.Pro139=) n.666C= | |
| 8 | g.10622786G>T | CA370300229 | RP1L1 | c.416C>A (p.Pro139Gln) n.666C>A | |
| 8 | g.10622789dup | CA4625712 | RP1L1 | c.416dup (p.Gly140ArgfsTer10) n.666dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622794_10622881del | CA2779033574 | RP1L1 | c.329_416del (p.Pro110GlnfsTer18) n.579_666del | |
| 8 | g.10622787G>A | CA4625715 | RP1L1 | c.415C>T (p.Pro139Ser) n.665C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622787G>C | CA4625716 | RP1L1 | c.415C>G (p.Pro139Ala) n.665C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622787G= | CA1763389846 | RP1L1 | c.415C= (p.Pro139=) n.665C= | |
| 8 | g.10622787G>T | CA370300237 | RP1L1 | c.415C>A (p.Pro139Thr) n.665C>A | |
| 8 | g.10622787_10622788insA | CA4625714 | RP1L1 | c.414_415insT (p.Pro139SerfsTer11) n.664_665insT | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622788G>A | CA459620290 | RP1L1 | c.414C>T (p.Ala138=) n.664C>T | gnomAD v4 |
| 8 | g.10622788G>C | CA459620291 | RP1L1 | c.414C>G (p.Ala138=) n.664C>G | |
| 8 | g.10622788G>T | CA459620292 | RP1L1 | c.414C>A (p.Ala138=) n.664C>A | gnomAD v4 |
| 8 | g.10622788_10622789insCG | CA845136248 | RP1L1 | c.414_415insGC (p.Pro139AlafsTer19) n.664_665insGC | dbSNP |
| 8 | g.10622789G>A | CA370300238 | RP1L1 | c.413C>T (p.Ala138Val) n.663C>T | dbSNP gnomAD v4 |
| 8 | g.10622789G>C | CA370300245 | RP1L1 | c.413C>G (p.Ala138Gly) n.663C>G | |
| 8 | g.10622789G= | CA1763389850 | RP1L1 | c.413C= (p.Ala138=) n.663C= | |
| 8 | g.10622789G>T | CA370300241 | RP1L1 | c.413C>A (p.Ala138Asp) n.663C>A | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10622790C>A | CA370300246 | RP1L1 | c.412G>T (p.Ala138Ser) n.662G>T | |
| 8 | g.10622790C= | CA1763389852 | RP1L1 | c.412G= (p.Ala138=) n.662G= | |
| 8 | g.10622790C>G | CA370300248 | RP1L1 | c.412G>C (p.Ala138Pro) n.662G>C | dbSNP |
| 8 | g.10622790C>T | CA370300249 | RP1L1 | c.412G>A (p.Ala138Thr) n.662G>A | ClinVar dbSNP gnomAD v4 |
| 8 | g.10622791T>A | CA370300250 | RP1L1 | c.411A>T (p.Glu137Asp) n.661A>T | |
| 8 | g.10622791T>C | CA459620295 | RP1L1 | c.411A>G (p.Glu137=) n.661A>G | dbSNP gnomAD v4 |
| 8 | g.10622791T>G | CA370300252 | RP1L1 | c.411A>C (p.Glu137Asp) n.661A>C | |
| 8 | g.10622792T>A | CA370300254 | RP1L1 | c.410A>T (p.Glu137Val) n.660A>T | |
| 8 | g.10622792T>C | CA370300258 | RP1L1 | c.410A>G (p.Glu137Gly) n.660A>G | dbSNP gnomAD v4 |
| 8 | g.10622792T>G | CA370300260 | RP1L1 | c.410A>C (p.Glu137Ala) n.660A>C | |
| 8 | g.10622792T= | CA1763389855 | RP1L1 | c.410A= (p.Glu137=) n.660A= | |
| 8 | g.10622793C>A | CA370300261 | RP1L1 | c.409G>T (p.Glu137Ter) n.659G>T | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10622793C= | CA1763389861 | RP1L1 | c.409G= (p.Glu137=) n.659G= | |
| 8 | g.10622793C>G | CA370300263 | RP1L1 | c.409G>C (p.Glu137Gln) n.659G>C | |
| 8 | g.10622793C>T | CA4625717 | RP1L1 | c.409G>A (p.Glu137Lys) n.659G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.10622794A= | CA1763389864 | RP1L1 | c.408T= (p.Arg136=) n.658T= | |
| 8 | g.10622794A>C | CA459620300 | RP1L1 | c.408T>G (p.Arg136=) n.658T>G | |
| 8 | g.10622794A>G | CA171954719 | RP1L1 | c.408T>C (p.Arg136=) n.658T>C | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10622794A>T | CA459620301 | RP1L1 | c.408T>A (p.Arg136=) n.658T>A | |
| 8 | g.10622795C>A | CA370300265 | RP1L1 | c.407G>T (p.Arg136Leu) n.657G>T | |
| 8 | g.10622795C= | CA1763389868 | RP1L1 | c.407G= (p.Arg136=) n.657G= | |
| 8 | g.10622795C>G | CA4625719 | RP1L1 | c.407G>C (p.Arg136Pro) n.657G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622795C>T | CA4625718 | RP1L1 | c.407G>A (p.Arg136His) n.657G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622796G>A | CA4625720 | RP1L1 | c.406C>T (p.Arg136Cys) n.656C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10622796G>C | CA370300267 | RP1L1 | c.406C>G (p.Arg136Gly) n.656C>G | |
| 8 | g.10622796G= | CA1763389872 | RP1L1 | c.406C= (p.Arg136=) n.656C= | |
| 8 | g.10622796G>T | CA370300268 | RP1L1 | c.406C>A (p.Arg136Ser) n.656C>A | |
| 8 | g.10622797C>A | CA370300270 | RP1L1 | c.405G>T (p.Gln135His) n.655G>T | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10622797C= | CA1763389873 | RP1L1 | c.405G= (p.Gln135=) n.655G= | |
| 8 | g.10622797C>G | CA370300271 | RP1L1 | c.405G>C (p.Gln135His) n.655G>C | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10622797C>T | CA459620305 | RP1L1 | c.405G>A (p.Gln135=) n.655G>A | |
| 8 | g.10622798T>A | CA370300273 | RP1L1 | c.404A>T (p.Gln135Leu) n.654A>T | |
| 8 | g.10622798T>C | CA370300275 | RP1L1 | c.404A>G (p.Gln135Arg) n.654A>G | ClinVar dbSNP gnomAD v4 |
| 8 | g.10622798T>G | CA370300277 | RP1L1 | c.404A>C (p.Gln135Pro) n.654A>C | |
| 8 | g.10622798T= | CA1763389875 | RP1L1 | c.404A= (p.Gln135=) n.654A= | |
| 8 | g.10622799G>A | CA370300279 | RP1L1 | c.403C>T (p.Gln135Ter) n.653C>T | ClinVar dbSNP gnomAD v4 |
| 8 | g.10622799G>C | CA370300280 | RP1L1 | c.403C>G (p.Gln135Glu) n.653C>G | |
| 8 | g.10622799G>T | CA370300281 | RP1L1 | c.403C>A (p.Gln135Lys) n.653C>A | |
| 8 | g.10622800G>A | CA459620311 | RP1L1 | c.402C>T (p.Gly134=) n.652C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622800G>C | CA459620310 | RP1L1 | c.402C>G (p.Gly134=) n.652C>G | |
| 8 | g.10622800G= | CA1763389878 | RP1L1 | c.402C= (p.Gly134=) n.652C= | |
| 8 | g.10622800G>T | CA459620308 | RP1L1 | c.402C>A (p.Gly134=) n.652C>A | gnomAD v4 |
| 8 | g.10622801C>A | CA370300285 | RP1L1 | c.401G>T (p.Gly134Val) n.651G>T | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10622801C= | CA1763389881 | RP1L1 | c.401G= (p.Gly134=) n.651G= | |
| 8 | g.10622801C>G | CA370300283 | RP1L1 | c.401G>C (p.Gly134Ala) n.651G>C | |
| 8 | g.10622801C>T | CA171954725 | RP1L1 | c.401G>A (p.Gly134Asp) n.651G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622802C>A | CA4625722 | RP1L1 | c.400G>T (p.Gly134Cys) n.650G>T | dbSNP ExAC gnomAD v2 |
| 8 | g.10622802C= | CA1763389886 | RP1L1 | c.400G= (p.Gly134=) n.650G= | |
| 8 | g.10622802C>G | CA370300287 | RP1L1 | c.400G>C (p.Gly134Arg) n.650G>C | gnomAD v4 |
| 8 | g.10622802C>T | CA4625721 | RP1L1 | c.400G>A (p.Gly134Ser) n.650G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10622803T>A | CA370300289 | RP1L1 | c.399A>T (p.Glu133Asp) n.649A>T | |
| 8 | g.10622803T>C | CA459620313 | RP1L1 | c.399A>G (p.Glu133=) n.649A>G | |
| 8 | g.10622803T>G | CA370300291 | RP1L1 | c.399A>C (p.Glu133Asp) n.649A>C | |
| 8 | g.10622804T>A | CA370300292 | RP1L1 | c.398A>T (p.Glu133Val) n.648A>T | |
| 8 | g.10622804T>C | CA4625723 | RP1L1 | c.398A>G (p.Glu133Gly) n.648A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10622804T>G | CA370300294 | RP1L1 | c.398A>C (p.Glu133Ala) n.648A>C | |
| 8 | g.10622804T= | CA1763389890 | RP1L1 | c.398A= (p.Glu133=) n.648A= | |
| 8 | g.10622805C>A | CA370300296 | RP1L1 | c.397G>T (p.Glu133Ter) n.647G>T | ClinVar |
| 8 | g.10622805C= | CA1763389893 | RP1L1 | c.397G= (p.Glu133=) n.647G= | |
| 8 | g.10622805C>G | CA370300298 | RP1L1 | c.397G>C (p.Glu133Gln) n.647G>C | |
| 8 | g.10622805C>T | CA4625724 | RP1L1 | c.397G>A (p.Glu133Lys) n.647G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622806G>A | CA4625726 | RP1L1 | c.396C>T (p.Val132=) n.646C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622806G>C | CA4625725 | RP1L1 | c.396C>G (p.Val132=) n.646C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10622806G= | CA1763389894 | RP1L1 | c.396C= (p.Val132=) n.646C= | |
| 8 | g.10622806G>T | CA459620318 | RP1L1 | c.396C>A (p.Val132=) n.646C>A | |
| 8 | g.10622807A= | CA1763389897 | RP1L1 | c.395T= (p.Val132=) n.645T= | |
| 8 | g.10622807A>C | CA370300303 | RP1L1 | c.395T>G (p.Val132Gly) n.645T>G | |
| 8 | g.10622807A>G | CA370300304 | RP1L1 | c.395T>C (p.Val132Ala) n.645T>C | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10622807A>T | CA370300302 | RP1L1 | c.395T>A (p.Val132Asp) n.645T>A | |
| 8 | g.10622808C>A | CA370300306 | RP1L1 | c.394G>T (p.Val132Phe) n.644G>T | gnomAD v4 |
| 8 | g.10622808C= | CA1763389901 | RP1L1 | c.394G= (p.Val132=) n.644G= | |
| 8 | g.10622808C>G | CA370300307 | RP1L1 | c.394G>C (p.Val132Leu) n.644G>C | |
| 8 | g.10622808C>T | CA4625727 | RP1L1 | c.394G>A (p.Val132Ile) n.644G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10622809A>C | CA370300308 | RP1L1 | c.393T>G (p.Asp131Glu) n.643T>G | |
| 8 | g.10622809A>G | CA459620322 | RP1L1 | c.393T>C (p.Asp131=) n.643T>C | |
| 8 | g.10622809A>T | CA370300309 | RP1L1 | c.393T>A (p.Asp131Glu) n.643T>A | |
| 8 | g.10622810T>A | CA370300311 | RP1L1 | c.392A>T (p.Asp131Val) n.642A>T | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10622810T>C | CA370300312 | RP1L1 | c.392A>G (p.Asp131Gly) n.642A>G | |
| 8 | g.10622810T>G | CA370300314 | RP1L1 | c.392A>C (p.Asp131Ala) n.642A>C | |
| 8 | g.10622810T= | CA1763389903 | RP1L1 | c.392A= (p.Asp131=) n.642A= | |
| 8 | g.10622811C>A | CA370300315 | RP1L1 | c.391G>T (p.Asp131Tyr) n.641G>T | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10622811C= | CA1763389904 | RP1L1 | c.391G= (p.Asp131=) n.641G= | |
| 8 | g.10622811C>G | CA370300316 | RP1L1 | c.391G>C (p.Asp131His) n.641G>C | |
| 8 | g.10622811C>T | CA370300317 | RP1L1 | c.391G>A (p.Asp131Asn) n.641G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622812C>A | CA459620328 | RP1L1 | c.390G>T (p.Arg130=) n.640G>T | |
| 8 | g.10622812C= | CA1763389906 | RP1L1 | c.390G= (p.Arg130=) n.640G= | |
| 8 | g.10622812C>G | CA459620329 | RP1L1 | c.390G>C (p.Arg130=) n.640G>C | |
| 8 | g.10622812C>T | CA459620330 | RP1L1 | c.390G>A (p.Arg130=) n.640G>A | dbSNP gnomAD v4 |
| 8 | g.10622813C>A | CA370300319 | RP1L1 | c.389G>T (p.Arg130Leu) n.639G>T | dbSNP gnomAD v2 COSMIC |
| 8 | g.10622813C= | CA1763389911 | RP1L1 | c.389G= (p.Arg130=) n.639G= | |
| 8 | g.10622813C>G | CA370300320 | RP1L1 | c.389G>C (p.Arg130Pro) n.639G>C | |
| 8 | g.10622813C>T | CA4625728 | RP1L1 | c.389G>A (p.Arg130Gln) n.639G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.10622814G>A | CA4625729 | RP1L1 | c.388C>T (p.Arg130Trp) n.638C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.10622814G>C | CA370300323 | RP1L1 | c.388C>G (p.Arg130Gly) n.638C>G | |
| 8 | g.10622814G= | CA1763389914 | RP1L1 | c.388C= (p.Arg130=) n.638C= | |
| 8 | g.10622814G>T | CA459620333 | RP1L1 | c.388C>A (p.Arg130=) n.638C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622815C>A | CA370300325 | RP1L1 | c.387G>T (p.Leu129Phe) n.637G>T | |
| 8 | g.10622815C= | CA1763389917 | RP1L1 | c.387G= (p.Leu129=) n.637G= | |
| 8 | g.10622815C>G | CA4625730 | RP1L1 | c.387G>C (p.Leu129Phe) n.637G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622815C>T | CA4625731 | RP1L1 | c.387G>A (p.Leu129=) n.637G>A | dbSNP ExAC |
| 8 | g.10622815dup | CA2523784224 | RP1L1 | c.387dup (p.Arg130AlafsTer8) n.637dup | gnomAD v4 |