OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.89206897_89214258del | CA645509196 | ClinVar | ||
| 15 | g.89210699C>A | CA393728697 | RLBP1 | c.795G>T (p.Arg265Ser) c.167G>T c.720G>T (p.Arg240Ser) c.822G>T (p.Arg274Ser) | gnomAD v4 |
| 15 | g.89210699C>G | CA393728698 | RLBP1 | c.795G>C (p.Arg265Ser) c.167G>C c.720G>C (p.Arg240Ser) c.822G>C (p.Arg274Ser) | |
| 15 | g.89210699C>T | CA492075052 | RLBP1 | c.795G>A (p.Arg265=) c.167G>A c.720G>A (p.Arg240=) c.822G>A (p.Arg274=) | ClinVar dbSNP |
| 15 | g.89210700C>A | CA393728699 | RLBP1 | c.794G>T (p.Arg265Met) c.166G>T c.719G>T (p.Arg240Met) c.821G>T (p.Arg274Met) | gnomAD v4 |
| 15 | g.89210700C= | CA2194508205 | RLBP1 | c.794G= (p.Arg265=) c.166G= c.719G= (p.Arg240=) c.821G= (p.Arg274=) | |
| 15 | g.89210700C>G | CA393728700 | RLBP1 | c.794G>C (p.Arg265Thr) c.166G>C c.719G>C (p.Arg240Thr) c.821G>C (p.Arg274Thr) | dbSNP gnomAD v2 |
| 15 | g.89210700C>T | CA393728701 | RLBP1 | c.794G>A (p.Arg265Lys) c.166G>A c.719G>A (p.Arg240Lys) c.821G>A (p.Arg274Lys) | |
| 15 | g.89210704_89210718del | CA2580090144 | RLBP1 | c.780_794del (p.Ser260_Glu264del) c.152_166del c.705_719del (p.Ser235_Glu239del) c.807_821del (p.Ser269_Glu273del) | ClinVar dbSNP gnomAD v4 |
| 15 | g.89210701T>A | CA393728702 | RLBP1 | c.793A>T (p.Arg265Trp) c.165A>T c.718A>T (p.Arg240Trp) c.820A>T (p.Arg274Trp) | |
| 15 | g.89210701T>C | CA393728703 | RLBP1 | c.793A>G (p.Arg265Gly) c.165A>G c.718A>G (p.Arg240Gly) c.820A>G (p.Arg274Gly) | |
| 15 | g.89210701T>G | CA492075062 | RLBP1 | c.793A>C (p.Arg265=) c.165A>C c.718A>C (p.Arg240=) c.820A>C (p.Arg274=) | gnomAD v4 |
| 15 | g.89210702C>A | CA393728704 | RLBP1 | c.792G>T (p.Glu264Asp) c.164G>T c.717G>T (p.Glu239Asp) c.819G>T (p.Glu273Asp) | gnomAD v4 |
| 15 | g.89210702C= | CA2194508211 | RLBP1 | c.792G= (p.Glu264=) c.164G= c.717G= (p.Glu239=) c.819G= (p.Glu273=) | |
| 15 | g.89210702C>G | CA393728705 | RLBP1 | c.792G>C (p.Glu264Asp) c.164G>C c.717G>C (p.Glu239Asp) c.819G>C (p.Glu273Asp) | gnomAD v4 |
| 15 | g.89210702C>T | CA492075068 | RLBP1 | c.792G>A (p.Glu264=) c.164G>A c.717G>A (p.Glu239=) c.819G>A (p.Glu273=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89210703T>A | CA393728706 | RLBP1 | c.791A>T (p.Glu264Val) c.163A>T c.716A>T (p.Glu239Val) c.818A>T (p.Glu273Val) | |
| 15 | g.89210703T>C | CA393728707 | RLBP1 | c.791A>G (p.Glu264Gly) c.163A>G c.716A>G (p.Glu239Gly) c.818A>G (p.Glu273Gly) | gnomAD v4 |
| 15 | g.89210703T>G | CA393728708 | RLBP1 | c.791A>C (p.Glu264Ala) c.163A>C c.716A>C (p.Glu239Ala) c.818A>C (p.Glu273Ala) | |
| 15 | g.89210704C>A | CA393728711 | RLBP1 | c.790G>T (p.Glu264Ter) c.162G>T c.715G>T (p.Glu239Ter) c.817G>T (p.Glu273Ter) | gnomAD v4 |
| 15 | g.89210704C= | CA2194508215 | RLBP1 | c.790G= (p.Glu264=) c.162G= c.715G= (p.Glu239=) c.817G= (p.Glu273=) | |
| 15 | g.89210704C>G | CA393728709 | RLBP1 | c.790G>C (p.Glu264Gln) c.162G>C c.715G>C (p.Glu239Gln) c.817G>C (p.Glu273Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89210704C>T | CA393728710 | RLBP1 | c.790G>A (p.Glu264Lys) c.162G>A c.715G>A (p.Glu239Lys) c.817G>A (p.Glu273Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89210705A= | CA2194508219 | RLBP1 | c.789T= (p.Leu263=) c.161T= c.714T= (p.Leu238=) c.816T= (p.Leu272=) | |
| 15 | g.89210705A>C | CA492075080 | RLBP1 | c.789T>G (p.Leu263=) c.161T>G c.714T>G (p.Leu238=) c.816T>G (p.Leu272=) | |
| 15 | g.89210705A>G | CA492075082 | RLBP1 | c.789T>C (p.Leu263=) c.161T>C c.714T>C (p.Leu238=) c.816T>C (p.Leu272=) | |
| 15 | g.89210705A>T | CA7722193 | RLBP1 | c.789T>A (p.Leu263=) c.161T>A c.714T>A (p.Leu238=) c.816T>A (p.Leu272=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89210706A>C | CA393728712 | RLBP1 | c.788T>G (p.Leu263Arg) c.160T>G c.713T>G (p.Leu238Arg) c.815T>G (p.Leu272Arg) | |
| 15 | g.89210706A>G | CA393728713 | RLBP1 | c.788T>C (p.Leu263Pro) c.160T>C c.713T>C (p.Leu238Pro) c.815T>C (p.Leu272Pro) | gnomAD v4 |
| 15 | g.89210706A>T | CA393728714 | RLBP1 | c.788T>A (p.Leu263His) c.160T>A c.713T>A (p.Leu238His) c.815T>A (p.Leu272His) | gnomAD v4 |
| 15 | g.89210707G>A | CA393728715 | RLBP1 | c.787C>T (p.Leu263Phe) c.159C>T c.712C>T (p.Leu238Phe) c.814C>T (p.Leu272Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89210707G>C | CA393728716 | RLBP1 | c.787C>G (p.Leu263Val) c.159C>G c.712C>G (p.Leu238Val) c.814C>G (p.Leu272Val) | |
| 15 | g.89210707G= | CA2194508222 | RLBP1 | c.787C= (p.Leu263=) c.159C= c.712C= (p.Leu238=) c.814C= (p.Leu272=) | |
| 15 | g.89210707G>T | CA393728717 | RLBP1 | c.787C>A (p.Leu263Ile) c.159C>A c.712C>A (p.Leu238Ile) c.814C>A (p.Leu272Ile) | |
| 15 | g.89210708C>A | CA492075094 | RLBP1 | c.786G>T (p.Leu262=) c.158G>T c.711G>T (p.Leu237=) c.813G>T (p.Leu271=) | |
| 15 | g.89210708C>G | CA492075096 | RLBP1 | c.786G>C (p.Leu262=) c.158G>C c.711G>C (p.Leu237=) c.813G>C (p.Leu271=) | |
| 15 | g.89210708C>T | CA492075099 | RLBP1 | c.786G>A (p.Leu262=) c.158G>A c.711G>A (p.Leu237=) c.813G>A (p.Leu271=) | gnomAD v4 |
| 15 | g.89210709A>C | CA393728718 | RLBP1 | c.785T>G (p.Leu262Arg) c.157T>G c.710T>G (p.Leu237Arg) c.812T>G (p.Leu271Arg) | |
| 15 | g.89210709A>G | CA393728720 | RLBP1 | c.785T>C (p.Leu262Pro) c.157T>C c.710T>C (p.Leu237Pro) c.812T>C (p.Leu271Pro) | |
| 15 | g.89210709A>T | CA393728719 | RLBP1 | c.785T>A (p.Leu262Gln) c.157T>A c.710T>A (p.Leu237Gln) c.812T>A (p.Leu271Gln) | |
| 15 | g.89210710G>A | CA492075109 | RLBP1 | c.784C>T (p.Leu262=) c.156C>T c.709C>T (p.Leu237=) c.811C>T (p.Leu271=) | |
| 15 | g.89210710G>C | CA393728721 | RLBP1 | c.784C>G (p.Leu262Val) c.156C>G c.709C>G (p.Leu237Val) c.811C>G (p.Leu271Val) | |
| 15 | g.89210710G>T | CA393728722 | RLBP1 | c.784C>A (p.Leu262Met) c.156C>A c.709C>A (p.Leu237Met) c.811C>A (p.Leu271Met) | gnomAD v4 |
| 15 | g.89210711C>A | CA393728723 | RLBP1 | c.783G>T (p.Lys261Asn) c.155G>T c.708G>T (p.Lys236Asn) c.810G>T (p.Lys270Asn) | gnomAD v4 |
| 15 | g.89210711C>G | CA393728724 | RLBP1 | c.783G>C (p.Lys261Asn) c.155G>C c.708G>C (p.Lys236Asn) c.810G>C (p.Lys270Asn) | |
| 15 | g.89210711C>T | CA492075112 | RLBP1 | c.783G>A (p.Lys261=) c.155G>A c.708G>A (p.Lys236=) c.810G>A (p.Lys270=) | gnomAD v4 |
| 15 | g.89210712T>A | CA393728725 | RLBP1 | c.782A>T (p.Lys261Met) c.154A>T c.707A>T (p.Lys236Met) c.809A>T (p.Lys270Met) | |
| 15 | g.89210712T>C | CA393728727 | RLBP1 | c.782A>G (p.Lys261Arg) c.154A>G c.707A>G (p.Lys236Arg) c.809A>G (p.Lys270Arg) | |
| 15 | g.89210712T>G | CA393728726 | RLBP1 | c.782A>C (p.Lys261Thr) c.154A>C c.707A>C (p.Lys236Thr) c.809A>C (p.Lys270Thr) | gnomAD v4 |
| 15 | g.89210713T>A | CA393728728 | RLBP1 | c.781A>T (p.Lys261Ter) c.153A>T c.706A>T (p.Lys236Ter) c.808A>T (p.Lys270Ter) | |
| 15 | g.89210713T>C | CA393728729 | RLBP1 | c.781A>G (p.Lys261Glu) c.153A>G c.706A>G (p.Lys236Glu) c.808A>G (p.Lys270Glu) | gnomAD v4 |
| 15 | g.89210713T>G | CA393728730 | RLBP1 | c.781A>C (p.Lys261Gln) c.153A>C c.706A>C (p.Lys236Gln) c.808A>C (p.Lys270Gln) | |
| 15 | g.89210714G>A | CA492075130 | RLBP1 | c.780C>T (p.Ser260=) c.152C>T c.705C>T (p.Ser235=) c.807C>T (p.Ser269=) | |
| 15 | g.89210714G>C | CA393728731 | RLBP1 | c.780C>G (p.Ser260Arg) c.152C>G c.705C>G (p.Ser235Arg) c.807C>G (p.Ser269Arg) | gnomAD v4 |
| 15 | g.89210714G= | CA2194508227 | RLBP1 | c.780C= (p.Ser260=) c.152C= c.705C= (p.Ser235=) c.807C= (p.Ser269=) | |
| 15 | g.89210714G>T | CA393728732 | RLBP1 | c.780C>A (p.Ser260Arg) c.152C>A c.705C>A (p.Ser235Arg) c.807C>A (p.Ser269Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89210715C>A | CA393728733 | RLBP1 | c.779G>T (p.Ser260Ile) c.151G>T c.704G>T (p.Ser235Ile) c.806G>T (p.Ser269Ile) | gnomAD v4 |
| 15 | g.89210715C= | CA2194508232 | RLBP1 | c.779G= (p.Ser260=) c.151G= c.704G= (p.Ser235=) c.806G= (p.Ser269=) | |
| 15 | g.89210715C>G | CA7722194 | RLBP1 | c.779G>C (p.Ser260Thr) c.151G>C c.704G>C (p.Ser235Thr) c.806G>C (p.Ser269Thr) | dbSNP ExAC gnomAD v4 |
| 15 | g.89210715C>T | CA393728734 | RLBP1 | c.779G>A (p.Ser260Asn) c.151G>A c.704G>A (p.Ser235Asn) c.806G>A (p.Ser269Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89210716T>A | CA393728735 | RLBP1 | c.778A>T (p.Ser260Cys) c.150A>T c.703A>T (p.Ser235Cys) c.805A>T (p.Ser269Cys) | gnomAD v4 |
| 15 | g.89210716T>C | CA393728736 | RLBP1 | c.778A>G (p.Ser260Gly) c.150A>G c.703A>G (p.Ser235Gly) c.805A>G (p.Ser269Gly) | |
| 15 | g.89210716T>G | CA393728737 | RLBP1 | c.778A>C (p.Ser260Arg) c.150A>C c.703A>C (p.Ser235Arg) c.805A>C (p.Ser269Arg) | |
| 15 | g.89210717C>A | CA393728738 | RLBP1 | c.777G>T (p.Lys259Asn) c.149G>T c.702G>T (p.Lys234Asn) c.804G>T (p.Lys268Asn) | gnomAD v4 |
| 15 | g.89210717C>G | CA393728739 | RLBP1 | c.777G>C (p.Lys259Asn) c.149G>C c.702G>C (p.Lys234Asn) c.804G>C (p.Lys268Asn) | |
| 15 | g.89210717C>T | CA492075145 | RLBP1 | c.777G>A (p.Lys259=) c.149G>A c.702G>A (p.Lys234=) c.804G>A (p.Lys268=) | |
| 15 | g.89210718T>A | CA393728742 | RLBP1 | c.776A>T (p.Lys259Met) c.148A>T c.701A>T (p.Lys234Met) c.803A>T (p.Lys268Met) | |
| 15 | g.89210718T>C | CA393728740 | RLBP1 | c.776A>G (p.Lys259Arg) c.148A>G c.701A>G (p.Lys234Arg) c.803A>G (p.Lys268Arg) | |
| 15 | g.89210718T>G | CA393728741 | RLBP1 | c.776A>C (p.Lys259Thr) c.148A>C c.701A>C (p.Lys234Thr) c.803A>C (p.Lys268Thr) | ClinVar dbSNP gnomAD v4 |
| 15 | g.89210718T= | CA2194508238 | RLBP1 | c.776A= (p.Lys259=) c.148A= c.701A= (p.Lys234=) c.803A= (p.Lys268=) | |
| 15 | g.89210719T>A | CA393728743 | RLBP1 | c.775A>T (p.Lys259Ter) c.147A>T c.700A>T (p.Lys234Ter) c.802A>T (p.Lys268Ter) | |
| 15 | g.89210719T>C | CA393728744 | RLBP1 | c.775A>G (p.Lys259Glu) c.147A>G c.700A>G (p.Lys234Glu) c.802A>G (p.Lys268Glu) | ClinVar |
| 15 | g.89210719T>G | CA393728745 | RLBP1 | c.775A>C (p.Lys259Gln) c.147A>C c.700A>C (p.Lys234Gln) c.802A>C (p.Lys268Gln) | |
| 15 | g.89210720C>A | CA393728746 | RLBP1 | c.774G>T (p.Leu258Phe) c.146G>T c.699G>T (p.Leu233Phe) c.801G>T (p.Leu267Phe) | |
| 15 | g.89210720C>G | CA393728747 | RLBP1 | c.774G>C (p.Leu258Phe) c.146G>C c.699G>C (p.Leu233Phe) c.801G>C (p.Leu267Phe) | |
| 15 | g.89210720C>T | CA492075165 | RLBP1 | c.774G>A (p.Leu258=) c.146G>A c.699G>A (p.Leu233=) c.801G>A (p.Leu267=) | |
| 15 | g.89210721A= | CA2194508247 | RLBP1 | c.773T= (p.Leu258=) c.145T= c.698T= (p.Leu233=) c.800T= (p.Leu267=) | |
| 15 | g.89210721A>C | CA235941 | RLBP1 | c.773T>G (p.Leu258Trp) c.145T>G c.698T>G (p.Leu233Trp) c.800T>G (p.Leu267Trp) | ClinVar dbSNP |
| 15 | g.89210721A>G | CA393728748 | RLBP1 | c.773T>C (p.Leu258Ser) c.145T>C c.698T>C (p.Leu233Ser) c.800T>C (p.Leu267Ser) | |
| 15 | g.89210721A>T | CA393728749 | RLBP1 | c.773T>A (p.Leu258Ter) c.145T>A c.698T>A (p.Leu233Ter) c.800T>A (p.Leu267Ter) | |
| 15 | g.89210722A>C | CA393728750 | RLBP1 | c.772T>G (p.Leu258Val) c.144T>G c.697T>G (p.Leu233Val) c.799T>G (p.Leu267Val) | |
| 15 | g.89210722A>G | CA492075173 | RLBP1 | c.772T>C (p.Leu258=) c.144T>C c.697T>C (p.Leu233=) c.799T>C (p.Leu267=) | gnomAD v4 |
| 15 | g.89210722A>T | CA393728751 | RLBP1 | c.772T>A (p.Leu258Met) c.144T>A c.697T>A (p.Leu233Met) c.799T>A (p.Leu267Met) | COSMIC |
| 15 | g.89210723G>A | CA492075175 | RLBP1 | c.771C>T (p.Phe257=) c.143C>T c.696C>T (p.Phe232=) c.798C>T (p.Phe266=) | ClinVar |
| 15 | g.89210723G>C | CA393728752 | RLBP1 | c.771C>G (p.Phe257Leu) c.143C>G c.696C>G (p.Phe232Leu) c.798C>G (p.Phe266Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89210723G= | CA2194508254 | RLBP1 | c.771C= (p.Phe257=) c.143C= c.696C= (p.Phe232=) c.798C= (p.Phe266=) | |
| 15 | g.89210723G>T | CA393728753 | RLBP1 | c.771C>A (p.Phe257Leu) c.143C>A c.696C>A (p.Phe232Leu) c.798C>A (p.Phe266Leu) | gnomAD v4 |
| 15 | g.89210724A>C | CA393728756 | RLBP1 | c.770T>G (p.Phe257Cys) c.142T>G c.695T>G (p.Phe232Cys) c.797T>G (p.Phe266Cys) | |
| 15 | g.89210724A>G | CA393728754 | RLBP1 | c.770T>C (p.Phe257Ser) c.142T>C c.695T>C (p.Phe232Ser) c.797T>C (p.Phe266Ser) | |
| 15 | g.89210724A>T | CA393728755 | RLBP1 | c.770T>A (p.Phe257Tyr) c.142T>A c.695T>A (p.Phe232Tyr) c.797T>A (p.Phe266Tyr) | |
| 15 | g.89210725A>C | CA393728757 | RLBP1 | c.769T>G (p.Phe257Val) c.141T>G c.694T>G (p.Phe232Val) c.796T>G (p.Phe266Val) | |
| 15 | g.89210725A>G | CA393728759 | RLBP1 | c.769T>C (p.Phe257Leu) c.141T>C c.694T>C (p.Phe232Leu) c.796T>C (p.Phe266Leu) | |
| 15 | g.89210725A>T | CA393728758 | RLBP1 | c.769T>A (p.Phe257Ile) c.141T>A c.694T>A (p.Phe232Ile) c.796T>A (p.Phe266Ile) | |
| 15 | g.89210726G>A | CA492075194 | RLBP1 | c.768C>T (p.Pro256=) c.140C>T c.693C>T (p.Pro231=) c.795C>T (p.Pro265=) | ClinVar |
| 15 | g.89210726G>C | CA492075192 | RLBP1 | c.768C>G (p.Pro256=) c.140C>G c.693C>G (p.Pro231=) c.795C>G (p.Pro265=) | |
| 15 | g.89210726G>T | CA492075190 | RLBP1 | c.768C>A (p.Pro256=) c.140C>A c.693C>A (p.Pro231=) c.795C>A (p.Pro265=) | gnomAD v4 |
| 15 | g.89210727G>A | CA393728760 | RLBP1 | c.767C>T (p.Pro256Leu) c.139C>T c.692C>T (p.Pro231Leu) c.794C>T (p.Pro265Leu) | |
| 15 | g.89210727G>C | CA393728761 | RLBP1 | c.767C>G (p.Pro256Arg) c.139C>G c.692C>G (p.Pro231Arg) c.794C>G (p.Pro265Arg) | |
| 15 | g.89210727G>T | CA393728762 | RLBP1 | c.767C>A (p.Pro256His) c.139C>A c.692C>A (p.Pro231His) c.794C>A (p.Pro265His) | |
| 15 | g.89210728G>A | CA393728763 | RLBP1 | c.766C>T (p.Pro256Ser) c.138C>T c.691C>T (p.Pro231Ser) c.793C>T (p.Pro265Ser) | gnomAD v4 |
| 15 | g.89210728G>C | CA393728764 | RLBP1 | c.766C>G (p.Pro256Ala) c.138C>G c.691C>G (p.Pro231Ala) c.793C>G (p.Pro265Ala) | dbSNP |
| 15 | g.89210728G= | CA2194508261 | RLBP1 | c.766C= (p.Pro256=) c.138C= c.691C= (p.Pro231=) c.793C= (p.Pro265=) | |
| 15 | g.89210728G>T | CA393728765 | RLBP1 | c.766C>A (p.Pro256Thr) c.138C>A c.691C>A (p.Pro231Thr) c.793C>A (p.Pro265Thr) | gnomAD v4 |
| 15 | g.89210729C>A | CA393728766 | RLBP1 | c.765G>T (p.Lys255Asn) c.137G>T c.690G>T (p.Lys230Asn) c.792G>T (p.Lys264Asn) | gnomAD v4 |
| 15 | g.89210729C>G | CA393728767 | RLBP1 | c.765G>C (p.Lys255Asn) c.137G>C c.690G>C (p.Lys230Asn) c.792G>C (p.Lys264Asn) | |
| 15 | g.89210729C>T | CA492075201 | RLBP1 | c.765G>A (p.Lys255=) c.137G>A c.690G>A (p.Lys230=) c.792G>A (p.Lys264=) | gnomAD v4 |
| 15 | g.89210730T>A | CA393728768 | RLBP1 | c.764A>T (p.Lys255Met) c.136A>T c.689A>T (p.Lys230Met) c.791A>T (p.Lys264Met) | |
| 15 | g.89210730T>C | CA393728769 | RLBP1 | c.764A>G (p.Lys255Arg) c.136A>G c.689A>G (p.Lys230Arg) c.791A>G (p.Lys264Arg) | gnomAD v4 |
| 15 | g.89210730T>G | CA393728770 | RLBP1 | c.764A>C (p.Lys255Thr) c.136A>C c.689A>C (p.Lys230Thr) c.791A>C (p.Lys264Thr) | |
| 15 | g.89210731T>A | CA393728773 | RLBP1 | c.763A>T (p.Lys255Ter) c.135A>T c.688A>T (p.Lys230Ter) c.790A>T (p.Lys264Ter) | |
| 15 | g.89210731T>C | CA393728772 | RLBP1 | c.763A>G (p.Lys255Glu) c.135A>G c.688A>G (p.Lys230Glu) c.790A>G (p.Lys264Glu) | gnomAD v4 |
| 15 | g.89210731T>G | CA393728771 | RLBP1 | c.763A>C (p.Lys255Gln) c.135A>C c.688A>C (p.Lys230Gln) c.790A>C (p.Lys264Gln) | |
| 15 | g.89210732G>A | CA7722195 | RLBP1 | c.762C>T (p.Val254=) c.134C>T c.687C>T (p.Val229=) c.789C>T (p.Val263=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89210732G>C | CA492075214 | RLBP1 | c.762C>G (p.Val254=) c.134C>G c.687C>G (p.Val229=) c.789C>G (p.Val263=) | |
| 15 | g.89210732G= | CA2194508263 | RLBP1 | c.762C= (p.Val254=) c.134C= c.687C= (p.Val229=) c.789C= (p.Val263=) | |
| 15 | g.89210732G>T | CA492075216 | RLBP1 | c.762C>A (p.Val254=) c.134C>A c.687C>A (p.Val229=) c.789C>A (p.Val263=) | gnomAD v4 |
| 15 | g.89210733A>C | CA393728774 | RLBP1 | c.761T>G (p.Val254Gly) c.133T>G c.686T>G (p.Val229Gly) c.788T>G (p.Val263Gly) | gnomAD v4 |
| 15 | g.89210733A>G | CA393728775 | RLBP1 | c.761T>C (p.Val254Ala) c.133T>C c.686T>C (p.Val229Ala) c.788T>C (p.Val263Ala) | gnomAD v4 |
| 15 | g.89210733A>T | CA393728776 | RLBP1 | c.761T>A (p.Val254Asp) c.133T>A c.686T>A (p.Val229Asp) c.788T>A (p.Val263Asp) | gnomAD v4 |
| 15 | g.89210734C>A | CA393728777 | RLBP1 | c.760G>T (p.Val254Phe) c.132G>T c.685G>T (p.Val229Phe) c.787G>T (p.Val263Phe) | gnomAD v4 |
| 15 | g.89210734C>G | CA393728778 | RLBP1 | c.760G>C (p.Val254Leu) c.132G>C c.685G>C (p.Val229Leu) c.787G>C (p.Val263Leu) | |
| 15 | g.89210734C>T | CA393728779 | RLBP1 | c.760G>A (p.Val254Ile) c.132G>A c.685G>A (p.Val229Ile) c.787G>A (p.Val263Ile) | gnomAD v4 |
| 15 | g.89210735del | CA2630241931 | RLBP1 | c.760del (p.Val254SerfsTer5) c.132del c.685del (p.Val229SerfsTer5) c.787del (p.Val263SerfsTer5) | gnomAD v4 |
| 15 | g.89210735C>A | CA492075231 | RLBP1 | c.759G>T (p.Val253=) c.131G>T c.684G>T (p.Val228=) c.786G>T (p.Val262=) | gnomAD v4 |
| 15 | g.89210735C= | CA2194508267 | RLBP1 | c.759G= (p.Val253=) c.131G= c.684G= (p.Val228=) c.786G= (p.Val262=) | |
| 15 | g.89210735C>G | CA492075233 | RLBP1 | c.759G>C (p.Val253=) c.131G>C c.684G>C (p.Val228=) c.786G>C (p.Val262=) | |
| 15 | g.89210735C>T | CA492075235 | RLBP1 | c.759G>A (p.Val253=) c.131G>A c.684G>A (p.Val228=) c.786G>A (p.Val262=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89210736A>C | CA393728780 | RLBP1 | c.758T>G (p.Val253Gly) c.130T>G c.683T>G (p.Val228Gly) c.785T>G (p.Val262Gly) | |
| 15 | g.89210736A>G | CA393728781 | RLBP1 | c.758T>C (p.Val253Ala) c.130T>C c.683T>C (p.Val228Ala) c.785T>C (p.Val262Ala) | gnomAD v4 |
| 15 | g.89210736A>T | CA393728782 | RLBP1 | c.758T>A (p.Val253Glu) c.130T>A c.683T>A (p.Val228Glu) c.785T>A (p.Val262Glu) | |
| 15 | g.89210737C>A | CA393728783 | RLBP1 | c.757G>T (p.Val253Leu) c.129G>T c.682G>T (p.Val228Leu) c.784G>T (p.Val262Leu) | |
| 15 | g.89210737C= | CA2194508276 | RLBP1 | c.757G= (p.Val253=) c.129G= c.682G= (p.Val228=) c.784G= (p.Val262=) | |
| 15 | g.89210737C>G | CA393728784 | RLBP1 | c.757G>C (p.Val253Leu) c.129G>C c.682G>C (p.Val228Leu) c.784G>C (p.Val262Leu) | |
| 15 | g.89210737C>T | CA393728785 | RLBP1 | c.757G>A (p.Val253Met) c.129G>A c.682G>A (p.Val228Met) c.784G>A (p.Val262Met) | dbSNP gnomAD v4 |
| 15 | g.89210738A= | CA2194508280 | RLBP1 | c.756T= (p.Asn252=) c.128T= c.681T= (p.Asn227=) c.783T= (p.Asn261=) | |
| 15 | g.89210738A>C | CA393728787 | RLBP1 | c.756T>G (p.Asn252Lys) c.128T>G c.681T>G (p.Asn227Lys) c.783T>G (p.Asn261Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89210738A>G | CA492075256 | RLBP1 | c.756T>C (p.Asn252=) c.128T>C c.681T>C (p.Asn227=) c.783T>C (p.Asn261=) | ClinVar |
| 15 | g.89210738A>T | CA393728786 | RLBP1 | c.756T>A (p.Asn252Lys) c.128T>A c.681T>A (p.Asn227Lys) c.783T>A (p.Asn261Lys) | gnomAD v4 |
| 15 | g.89210739T>A | CA393728788 | RLBP1 | c.755A>T (p.Asn252Ile) c.127A>T c.680A>T (p.Asn227Ile) c.782A>T (p.Asn261Ile) | |
| 15 | g.89210739T>C | CA7722196 | RLBP1 | c.755A>G (p.Asn252Ser) c.127A>G c.680A>G (p.Asn227Ser) c.782A>G (p.Asn261Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89210739T>G | CA393728789 | RLBP1 | c.755A>C (p.Asn252Thr) c.127A>C c.680A>C (p.Asn227Thr) c.782A>C (p.Asn261Thr) | |
| 15 | g.89210739T= | CA2194508284 | RLBP1 | c.755A= (p.Asn252=) c.127A= c.680A= (p.Asn227=) c.782A= (p.Asn261=) | |
| 15 | g.89210740T>A | CA393728790 | RLBP1 | c.754A>T (p.Asn252Tyr) c.126A>T c.679A>T (p.Asn227Tyr) c.781A>T (p.Asn261Tyr) | |
| 15 | g.89210740T>C | CA393728791 | RLBP1 | c.754A>G (p.Asn252Asp) c.126A>G c.679A>G (p.Asn227Asp) c.781A>G (p.Asn261Asp) | gnomAD v4 |
| 15 | g.89210740T>G | CA393728792 | RLBP1 | c.754A>C (p.Asn252His) c.126A>C c.679A>C (p.Asn227His) c.781A>C (p.Asn261His) | gnomAD v3 gnomAD v4 |
| 15 | g.89210741G>A | CA7722198 | RLBP1 | c.753C>T (p.Tyr251=) c.125C>T c.678C>T (p.Tyr226=) c.780C>T (p.Tyr260=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89210741G>C | CA393728793 | RLBP1 | c.753C>G (p.Tyr251Ter) c.125C>G c.678C>G (p.Tyr226Ter) c.780C>G (p.Tyr260Ter) | |
| 15 | g.89210741G= | CA2194508292 | RLBP1 | c.753C= (p.Tyr251=) c.125C= c.678C= (p.Tyr226=) c.780C= (p.Tyr260=) | |
| 15 | g.89210741G>T | CA7722197 | RLBP1 | c.753C>A (p.Tyr251Ter) c.125C>A c.678C>A (p.Tyr226Ter) c.780C>A (p.Tyr260Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89210742T>A | CA393728794 | RLBP1 | c.752A>T (p.Tyr251Phe) c.124A>T c.677A>T (p.Tyr226Phe) c.779A>T (p.Tyr260Phe) | |
| 15 | g.89210742T>C | CA393728795 | RLBP1 | c.752A>G (p.Tyr251Cys) c.124A>G c.677A>G (p.Tyr226Cys) c.779A>G (p.Tyr260Cys) | gnomAD v4 |
| 15 | g.89210742T>G | CA393728796 | RLBP1 | c.752A>C (p.Tyr251Ser) c.124A>C c.677A>C (p.Tyr226Ser) c.779A>C (p.Tyr260Ser) | |
| 15 | g.89210743A>C | CA393728797 | RLBP1 | c.751T>G (p.Tyr251Asp) c.123T>G c.676T>G (p.Tyr226Asp) c.778T>G (p.Tyr260Asp) | |
| 15 | g.89210743A>G | CA393728798 | RLBP1 | c.751T>C (p.Tyr251His) c.123T>C c.676T>C (p.Tyr226His) c.778T>C (p.Tyr260His) | gnomAD v4 |
| 15 | g.89210743A>T | CA393728799 | RLBP1 | c.751T>A (p.Tyr251Asn) c.123T>A c.676T>A (p.Tyr226Asn) c.778T>A (p.Tyr260Asn) | gnomAD v4 |
| 15 | g.89210744G>A | CA492075277 | RLBP1 | c.750C>T (p.Thr250=) c.122C>T c.675C>T (p.Thr225=) c.777C>T (p.Thr259=) | |
| 15 | g.89210744G>C | CA492075279 | RLBP1 | c.750C>G (p.Thr250=) c.122C>G c.675C>G (p.Thr225=) c.777C>G (p.Thr259=) | |
| 15 | g.89210744G>T | CA492075283 | RLBP1 | c.750C>A (p.Thr250=) c.122C>A c.675C>A (p.Thr225=) c.777C>A (p.Thr259=) | ClinVar gnomAD v4 |
| 15 | g.89210745G>A | CA393728800 | RLBP1 | c.749C>T (p.Thr250Ile) c.121C>T c.674C>T (p.Thr225Ile) c.776C>T (p.Thr259Ile) | |
| 15 | g.89210745G>C | CA393728802 | RLBP1 | c.749C>G (p.Thr250Ser) c.121C>G c.674C>G (p.Thr225Ser) c.776C>G (p.Thr259Ser) | |
| 15 | g.89210745G>T | CA393728801 | RLBP1 | c.749C>A (p.Thr250Asn) c.121C>A c.674C>A (p.Thr225Asn) c.776C>A (p.Thr259Asn) | gnomAD v4 |
| 15 | g.89210746T>A | CA393728803 | RLBP1 | c.748A>T (p.Thr250Ser) c.120A>T c.673A>T (p.Thr225Ser) c.775A>T (p.Thr259Ser) | |
| 15 | g.89210746T>C | CA393728804 | RLBP1 | c.748A>G (p.Thr250Ala) c.120A>G c.673A>G (p.Thr225Ala) c.775A>G (p.Thr259Ala) | |
| 15 | g.89210746T>G | CA393728805 | RLBP1 | c.748A>C (p.Thr250Pro) c.120A>C c.673A>C (p.Thr225Pro) c.775A>C (p.Thr259Pro) | |
| 15 | g.89210747C>A | CA492075295 | RLBP1 | c.747G>T (p.Thr249=) c.119G>T c.672G>T (p.Thr224=) c.774G>T (p.Thr258=) | gnomAD v4 |
| 15 | g.89210747C= | CA2194508304 | RLBP1 | c.747G= (p.Thr249=) c.119G= c.672G= (p.Thr224=) c.774G= (p.Thr258=) | |
| 15 | g.89210747C>G | CA492075297 | RLBP1 | c.747G>C (p.Thr249=) c.119G>C c.672G>C (p.Thr224=) c.774G>C (p.Thr258=) | ClinVar |
| 15 | g.89210747C>T | CA7722199 | RLBP1 | c.747G>A (p.Thr249=) c.119G>A c.672G>A (p.Thr224=) c.774G>A (p.Thr258=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89210748G>A | CA7722201 | RLBP1 | c.746C>T (p.Thr249Met) c.118C>T c.671C>T (p.Thr224Met) c.773C>T (p.Thr258Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89210748G>C | CA393728806 | RLBP1 | c.746C>G (p.Thr249Arg) c.118C>G c.671C>G (p.Thr224Arg) c.773C>G (p.Thr258Arg) | |
| 15 | g.89210748G= | CA2194508314 | RLBP1 | c.746C= (p.Thr249=) c.118C= c.671C= (p.Thr224=) c.773C= (p.Thr258=) | |
| 15 | g.89210748G>T | CA7722200 | RLBP1 | c.746C>A (p.Thr249Lys) c.118C>A c.671C>A (p.Thr224Lys) c.773C>A (p.Thr258Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89210749T>A | CA393728807 | RLBP1 | c.745A>T (p.Thr249Ser) c.117A>T c.670A>T (p.Thr224Ser) c.772A>T (p.Thr258Ser) | |
| 15 | g.89210749T>C | CA393728808 | RLBP1 | c.745A>G (p.Thr249Ala) c.117A>G c.670A>G (p.Thr224Ala) c.772A>G (p.Thr258Ala) | |
| 15 | g.89210749T>G | CA393728809 | RLBP1 | c.745A>C (p.Thr249Pro) c.117A>C c.670A>C (p.Thr224Pro) c.772A>C (p.Thr258Pro) | |
| 15 | g.89210750G>A | CA247515 | RLBP1 | c.744C>T (p.Thr248=) c.116C>T c.*322C>T (n.*322C>T) c.669C>T (p.Thr223=) c.771C>T (p.Thr257=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89210750G>C | CA492075312 | RLBP1 | c.744C>G (p.Thr248=) c.116C>G c.*322C>G (n.*322C>G) c.669C>G (p.Thr223=) c.771C>G (p.Thr257=) | |
| 15 | g.89210750G= | CA2194508326 | RLBP1 | c.744C= (p.Thr248=) c.116C= c.*322C= (n.*322C=) c.669C= (p.Thr223=) c.771C= (p.Thr257=) | |
| 15 | g.89210750G>T | CA492075310 | RLBP1 | c.744C>A (p.Thr248=) c.116C>A c.*322C>A (n.*322C>A) c.669C>A (p.Thr223=) c.771C>A (p.Thr257=) | gnomAD v4 |
| 15 | g.89210751G>A | CA393728810 | RLBP1 | c.743C>T (p.Thr248Ile) c.115C>T c.*321C>T (n.*321C>T) c.668C>T (p.Thr223Ile) c.770C>T (p.Thr257Ile) | gnomAD v4 |
| 15 | g.89210751G>C | CA393728812 | RLBP1 | c.743C>G (p.Thr248Ser) c.115C>G c.*321C>G (n.*321C>G) c.668C>G (p.Thr223Ser) c.770C>G (p.Thr257Ser) | |
| 15 | g.89210751G>T | CA393728811 | RLBP1 | c.743C>A (p.Thr248Asn) c.115C>A c.*321C>A (n.*321C>A) c.668C>A (p.Thr223Asn) c.770C>A (p.Thr257Asn) | |
| 15 | g.89210752T>A | CA393728813 | RLBP1 | c.742A>T (p.Thr248Ser) c.114A>T c.*320A>T (n.*320A>T) c.667A>T (p.Thr223Ser) c.769A>T (p.Thr257Ser) | |
| 15 | g.89210752T>C | CA393728815 | RLBP1 | c.742A>G (p.Thr248Ala) c.114A>G c.*320A>G (n.*320A>G) c.667A>G (p.Thr223Ala) c.769A>G (p.Thr257Ala) | gnomAD v4 |
| 15 | g.89210752T>G | CA393728814 | RLBP1 | c.742A>C (p.Thr248Pro) c.114A>C c.*320A>C (n.*320A>C) c.667A>C (p.Thr223Pro) c.769A>C (p.Thr257Pro) | |
| 15 | g.89210753G>A | CA492075322 | RLBP1 | c.741C>T (p.Phe247=) c.113C>T c.*319C>T (n.*319C>T) c.666C>T (p.Phe222=) c.768C>T (p.Phe256=) | gnomAD v4 |
| 15 | g.89210753G>C | CA393728816 | RLBP1 | c.741C>G (p.Phe247Leu) c.113C>G c.*319C>G (n.*319C>G) c.666C>G (p.Phe222Leu) c.768C>G (p.Phe256Leu) | |
| 15 | g.89210753G>T | CA393728817 | RLBP1 | c.741C>A (p.Phe247Leu) c.113C>A c.*319C>A (n.*319C>A) c.666C>A (p.Phe222Leu) c.768C>A (p.Phe256Leu) | gnomAD v4 |
| 15 | g.89210754A>C | CA393728818 | RLBP1 | c.740T>G (p.Phe247Cys) c.112T>G c.*318T>G (n.*318T>G) c.665T>G (p.Phe222Cys) c.767T>G (p.Phe256Cys) | |
| 15 | g.89210754A>G | CA393728819 | RLBP1 | c.740T>C (p.Phe247Ser) c.112T>C c.*318T>C (n.*318T>C) c.665T>C (p.Phe222Ser) c.767T>C (p.Phe256Ser) | gnomAD v4 |
| 15 | g.89210754A>T | CA393728820 | RLBP1 | c.740T>A (p.Phe247Tyr) c.112T>A c.*318T>A (n.*318T>A) c.665T>A (p.Phe222Tyr) c.767T>A (p.Phe256Tyr) | |
| 15 | g.89210755A>C | CA393728821 | RLBP1 | c.739T>G (p.Phe247Val) c.111T>G c.*317T>G (n.*317T>G) c.664T>G (p.Phe222Val) c.766T>G (p.Phe256Val) | |
| 15 | g.89210755A>G | CA393728822 | RLBP1 | c.739T>C (p.Phe247Leu) c.111T>C c.*317T>C (n.*317T>C) c.664T>C (p.Phe222Leu) c.766T>C (p.Phe256Leu) | |
| 15 | g.89210755A>T | CA393728823 | RLBP1 | c.739T>A (p.Phe247Ile) c.111T>A c.*317T>A (n.*317T>A) c.664T>A (p.Phe222Ile) c.766T>A (p.Phe256Ile) | |
| 15 | g.89210756G>A | CA492075337 | RLBP1 | c.738C>T (p.Tyr246=) c.110C>T c.*316C>T (n.*316C>T) c.663C>T (p.Tyr221=) c.765C>T (p.Tyr255=) | ClinVar |
| 15 | g.89210756G>C | CA393728824 | RLBP1 | c.738C>G (p.Tyr246Ter) c.110C>G c.*316C>G (n.*316C>G) c.663C>G (p.Tyr221Ter) c.765C>G (p.Tyr255Ter) | |
| 15 | g.89210756G>T | CA393728825 | RLBP1 | c.738C>A (p.Tyr246Ter) c.110C>A c.*316C>A (n.*316C>A) c.663C>A (p.Tyr221Ter) c.765C>A (p.Tyr255Ter) | gnomAD v4 |
| 15 | g.89210757T>A | CA393728826 | RLBP1 | c.737A>T (p.Tyr246Phe) c.109A>T c.*315A>T (n.*315A>T) c.662A>T (p.Tyr221Phe) c.764A>T (p.Tyr255Phe) | |
| 15 | g.89210757T>C | CA393728827 | RLBP1 | c.737A>G (p.Tyr246Cys) c.109A>G c.*315A>G (n.*315A>G) c.662A>G (p.Tyr221Cys) c.764A>G (p.Tyr255Cys) | |
| 15 | g.89210757T>G | CA393728828 | RLBP1 | c.737A>C (p.Tyr246Ser) c.109A>C c.*315A>C (n.*315A>C) c.662A>C (p.Tyr221Ser) c.764A>C (p.Tyr255Ser) | |
| 15 | g.89210758A= | CA2194508336 | RLBP1 | c.736T= (p.Tyr246=) c.108T= c.*314T= (n.*314T=) c.661T= (p.Tyr221=) c.763T= (p.Tyr255=) | |
| 15 | g.89210758A>C | CA393728830 | RLBP1 | c.736T>G (p.Tyr246Asp) c.108T>G c.*314T>G (n.*314T>G) c.661T>G (p.Tyr221Asp) c.763T>G (p.Tyr255Asp) | |
| 15 | g.89210758A>G | CA7722202 | RLBP1 | c.736T>C (p.Tyr246His) c.108T>C c.*314T>C (n.*314T>C) c.661T>C (p.Tyr221His) c.763T>C (p.Tyr255His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89210758A>T | CA393728829 | RLBP1 | c.736T>A (p.Tyr246Asn) c.108T>A c.*314T>A (n.*314T>A) c.661T>A (p.Tyr221Asn) c.763T>A (p.Tyr255Asn) | gnomAD v4 |
| 15 | g.89210759C>A | CA393728831 | RLBP1 | c.735G>T (p.Trp245Cys) c.107G>T c.*313G>T (n.*313G>T) c.660G>T (p.Trp220Cys) c.762G>T (p.Trp254Cys) | gnomAD v4 |
| 15 | g.89210759C= | CA2194508340 | RLBP1 | c.735G= (p.Trp245=) c.107G= c.*313G= (n.*313G=) c.660G= (p.Trp220=) c.762G= (p.Trp254=) | |
| 15 | g.89210759C>G | CA393728832 | RLBP1 | c.735G>C (p.Trp245Cys) c.107G>C c.*313G>C (n.*313G>C) c.660G>C (p.Trp220Cys) c.762G>C (p.Trp254Cys) | |
| 15 | g.89210759C>T | CA393728833 | RLBP1 | c.735G>A (p.Trp245Ter) c.107G>A c.*313G>A (n.*313G>A) c.660G>A (p.Trp220Ter) c.762G>A (p.Trp254Ter) | ClinVar dbSNP gnomAD v4 |
| 15 | g.89210760C>A | CA393728834 | RLBP1 | c.734G>T (p.Trp245Leu) c.106G>T c.*312G>T (n.*312G>T) c.659G>T (p.Trp220Leu) c.761G>T (p.Trp254Leu) | gnomAD v4 |
| 15 | g.89210760C= | CA2194508357 | RLBP1 | c.734G= (p.Trp245=) c.106G= c.*312G= (n.*312G=) c.659G= (p.Trp220=) c.761G= (p.Trp254=) | |
| 15 | g.89210760C>G | CA393728835 | RLBP1 | c.734G>C (p.Trp245Ser) c.106G>C c.*312G>C (n.*312G>C) c.659G>C (p.Trp220Ser) c.761G>C (p.Trp254Ser) | |
| 15 | g.89210760C>T | CA393728836 | RLBP1 | c.734G>A (p.Trp245Ter) c.106G>A c.*312G>A (n.*312G>A) c.659G>A (p.Trp220Ter) c.761G>A (p.Trp254Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89210761A= | CA2194508360 | RLBP1 | c.733T= (p.Trp245=) c.105T= c.*311T= (n.*311T=) c.658T= (p.Trp220=) c.760T= (p.Trp254=) | |
| 15 | g.89210761A>C | CA393728837 | RLBP1 | c.733T>G (p.Trp245Gly) c.105T>G c.*311T>G (n.*311T>G) c.658T>G (p.Trp220Gly) c.760T>G (p.Trp254Gly) | |
| 15 | g.89210761A>G | CA274532020 | RLBP1 | c.733T>C (p.Trp245Arg) c.105T>C c.*311T>C (n.*311T>C) c.658T>C (p.Trp220Arg) c.760T>C (p.Trp254Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.89210761A>T | CA393728838 | RLBP1 | c.733T>A (p.Trp245Arg) c.105T>A c.*311T>A (n.*311T>A) c.658T>A (p.Trp220Arg) c.760T>A (p.Trp254Arg) | |
| 15 | g.89210762T>A | CA492075365 | RLBP1 | c.732A>T (p.Pro244=) c.104A>T c.*310A>T (n.*310A>T) c.657A>T (p.Pro219=) c.759A>T (p.Pro253=) | |
| 15 | g.89210762T>C | CA492075369 | RLBP1 | c.732A>G (p.Pro244=) c.104A>G c.*310A>G (n.*310A>G) c.657A>G (p.Pro219=) c.759A>G (p.Pro253=) | ClinVar dbSNP |
| 15 | g.89210762T>G | CA492075366 | RLBP1 | c.732A>C (p.Pro244=) c.104A>C c.*310A>C (n.*310A>C) c.657A>C (p.Pro219=) c.759A>C (p.Pro253=) | |
| 15 | g.89210762T= | CA2194508363 | RLBP1 | c.732A= (p.Pro244=) c.104A= c.*310A= (n.*310A=) c.657A= (p.Pro219=) c.759A= (p.Pro253=) | |
| 15 | g.89210763G>A | CA393728839 | RLBP1 | c.731C>T (p.Pro244Leu) c.103C>T c.*309C>T (n.*309C>T) c.656C>T (p.Pro219Leu) c.758C>T (p.Pro253Leu) | |
| 15 | g.89210763G>C | CA393728840 | RLBP1 | c.731C>G (p.Pro244Arg) c.103C>G c.*309C>G (n.*309C>G) c.656C>G (p.Pro219Arg) c.758C>G (p.Pro253Arg) | |
| 15 | g.89210763G>T | CA393728841 | RLBP1 | c.731C>A (p.Pro244Gln) c.103C>A c.*309C>A (n.*309C>A) c.656C>A (p.Pro219Gln) c.758C>A (p.Pro253Gln) | |
| 15 | g.89210764G>A | CA393728842 | RLBP1 | c.730C>T (p.Pro244Ser) c.102C>T c.*308C>T (n.*308C>T) c.655C>T (p.Pro219Ser) c.757C>T (p.Pro253Ser) | gnomAD v4 |
| 15 | g.89210764G>C | CA393728844 | RLBP1 | c.730C>G (p.Pro244Ala) c.102C>G c.*308C>G (n.*308C>G) c.655C>G (p.Pro219Ala) c.757C>G (p.Pro253Ala) | |
| 15 | g.89210764G>T | CA393728843 | RLBP1 | c.730C>A (p.Pro244Thr) c.102C>A c.*308C>A (n.*308C>A) c.655C>A (p.Pro219Thr) c.757C>A (p.Pro253Thr) | gnomAD v4 |
| 15 | g.89210765C>A | CA393728845 | RLBP1 | c.729G>T (p.Gln243His) c.102-1G>T c.*307G>T (n.*307G>T) c.654G>T (p.Gln218His) c.756G>T (p.Gln252His) | gnomAD v4 |
| 15 | g.89210765C= | CA2194508365 | RLBP1 | c.729G= (p.Gln243=) c.102-1G= c.*307G= (n.*307G=) c.654G= (p.Gln218=) c.756G= (p.Gln252=) | |
| 15 | g.89210765C>G | CA393728846 | RLBP1 | c.729G>C (p.Gln243His) c.102-1G>C c.*307G>C (n.*307G>C) c.654G>C (p.Gln218His) c.756G>C (p.Gln252His) | |
| 15 | g.89210765C>T | CA7722203 | RLBP1 | c.729G>A (p.Gln243=) c.102-1G>A c.*307G>A (n.*307G>A) c.654G>A (p.Gln218=) c.756G>A (p.Gln252=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89210766T>A | CA393728847 | RLBP1 | c.728A>T (p.Gln243Leu) c.102-2A>T c.*306A>T (n.*306A>T) c.653A>T (p.Gln218Leu) c.755A>T (p.Gln252Leu) | |
| 15 | g.89210766T>C | CA393728848 | RLBP1 | c.728A>G (p.Gln243Arg) c.102-2A>G c.*306A>G (n.*306A>G) c.653A>G (p.Gln218Arg) c.755A>G (p.Gln252Arg) | |
| 15 | g.89210766T>G | CA393728849 | RLBP1 | c.728A>C (p.Gln243Pro) c.102-2A>C c.*306A>C (n.*306A>C) c.653A>C (p.Gln218Pro) c.755A>C (p.Gln252Pro) | |
| 15 | g.89210767G>A | CA393728850 | RLBP1 | c.727C>T (p.Gln243Ter) c.102-3C>T c.*305C>T (n.*305C>T) c.652C>T (p.Gln218Ter) c.754C>T (p.Gln252Ter) | |
| 15 | g.89210767G>C | CA393728851 | RLBP1 | c.727C>G (p.Gln243Glu) c.102-3C>G c.*305C>G (n.*305C>G) c.652C>G (p.Gln218Glu) c.754C>G (p.Gln252Glu) | |
| 15 | g.89210767G>T | CA393728852 | RLBP1 | c.727C>A (p.Gln243Lys) c.102-3C>A c.*305C>A (n.*305C>A) c.652C>A (p.Gln218Lys) c.754C>A (p.Gln252Lys) | gnomAD v4 |
| 15 | g.89210768G>A | CA492075390 | RLBP1 | c.726C>T (p.His242=) c.102-4C>T c.*304C>T (n.*304C>T) c.651C>T (p.His217=) c.753C>T (p.His251=) | gnomAD v4 |
| 15 | g.89210768G>C | CA393728853 | RLBP1 | c.726C>G (p.His242Gln) c.102-4C>G c.*304C>G (n.*304C>G) c.651C>G (p.His217Gln) c.753C>G (p.His251Gln) | |
| 15 | g.89210768G>T | CA393728854 | RLBP1 | c.726C>A (p.His242Gln) c.102-4C>A c.*304C>A (n.*304C>A) c.651C>A (p.His217Gln) c.753C>A (p.His251Gln) | |
| 15 | g.89210769T>A | CA393728856 | RLBP1 | c.725A>T (p.His242Leu) c.102-5A>T c.*303A>T (n.*303A>T) c.650A>T (p.His217Leu) c.752A>T (p.His251Leu) | |
| 15 | g.89210769T>C | CA393728855 | RLBP1 | c.725A>G (p.His242Arg) c.102-5A>G c.*303A>G (n.*303A>G) c.650A>G (p.His217Arg) c.752A>G (p.His251Arg) | |
| 15 | g.89210769T>G | CA7722204 | RLBP1 | c.725A>C (p.His242Pro) c.102-5A>C c.*303A>C (n.*303A>C) c.650A>C (p.His217Pro) c.752A>C (p.His251Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89210769T= | CA2194508369 | RLBP1 | c.725A= (p.His242=) c.102-5A= c.*303A= (n.*303A=) c.650A= (p.His217=) c.752A= (p.His251=) | |
| 15 | g.89210770G>A | CA393728857 | RLBP1 | c.724C>T (p.His242Tyr) c.102-6C>T c.*302C>T (n.*302C>T) c.649C>T (p.His217Tyr) c.751C>T (p.His251Tyr) | gnomAD v4 |
| 15 | g.89210770G>C | CA393728858 | RLBP1 | c.724C>G (p.His242Asp) c.102-6C>G c.*302C>G (n.*302C>G) c.649C>G (p.His217Asp) c.751C>G (p.His251Asp) | |
| 15 | g.89210770G>T | CA393728859 | RLBP1 | c.724C>A (p.His242Asn) c.102-6C>A c.*302C>A (n.*302C>A) c.649C>A (p.His217Asn) c.751C>A (p.His251Asn) | gnomAD v4 |
| 15 | g.89210771G>A | CA492075406 | RLBP1 | c.723C>T (p.Ile241=) c.102-7C>T c.*301C>T (n.*301C>T) c.648C>T (p.Ile216=) c.750C>T (p.Ile250=) | |
| 15 | g.89210771G>C | CA393728860 | RLBP1 | c.723C>G (p.Ile241Met) c.102-7C>G c.*301C>G (n.*301C>G) c.648C>G (p.Ile216Met) c.750C>G (p.Ile250Met) | |
| 15 | g.89210771G>T | CA492075404 | RLBP1 | c.723C>A (p.Ile241=) c.102-7C>A c.*301C>A (n.*301C>A) c.648C>A (p.Ile216=) c.750C>A (p.Ile250=) | |
| 15 | g.89210772A= | CA2194508370 | RLBP1 | c.722T= (p.Ile241=) c.102-8T= c.*300T= (n.*300T=) c.647T= (p.Ile216=) c.749T= (p.Ile250=) | |
| 15 | g.89210772A>C | CA393728861 | RLBP1 | c.722T>G (p.Ile241Ser) c.102-8T>G c.*300T>G (n.*300T>G) c.647T>G (p.Ile216Ser) c.749T>G (p.Ile250Ser) | |
| 15 | g.89210772A>G | CA393728862 | RLBP1 | c.722T>C (p.Ile241Thr) c.102-8T>C c.*300T>C (n.*300T>C) c.647T>C (p.Ile216Thr) c.749T>C (p.Ile250Thr) | dbSNP |
| 15 | g.89210772A>T | CA393728863 | RLBP1 | c.722T>A (p.Ile241Asn) c.102-8T>A c.*300T>A (n.*300T>A) c.647T>A (p.Ile216Asn) c.749T>A (p.Ile250Asn) | |
| 15 | g.89210773T>A | CA393728864 | RLBP1 | c.721A>T (p.Ile241Phe) c.102-9A>T c.*299A>T (n.*299A>T) c.646A>T (p.Ile216Phe) c.748A>T (p.Ile250Phe) | gnomAD v4 |
| 15 | g.89210773T>C | CA393728865 | RLBP1 | c.721A>G (p.Ile241Val) c.102-9A>G c.*299A>G (n.*299A>G) c.646A>G (p.Ile216Val) c.748A>G (p.Ile250Val) | |
| 15 | g.89210773T>G | CA393728866 | RLBP1 | c.721A>C (p.Ile241Leu) c.102-9A>C c.*299A>C (n.*299A>C) c.646A>C (p.Ile216Leu) c.748A>C (p.Ile250Leu) | |
| 15 | g.89210774G>A | CA492075418 | RLBP1 | c.720C>T (p.Phe240=) c.102-10C>T c.*298C>T (n.*298C>T) c.645C>T (p.Phe215=) c.747C>T (p.Phe249=) | gnomAD v4 |
| 15 | g.89210774G>C | CA393728867 | RLBP1 | c.720C>G (p.Phe240Leu) c.102-10C>G c.*298C>G (n.*298C>G) c.645C>G (p.Phe215Leu) c.747C>G (p.Phe249Leu) | |
| 15 | g.89210774G= | CA2194508374 | RLBP1 | c.720C= (p.Phe240=) c.102-10C= c.*298C= (n.*298C=) c.645C= (p.Phe215=) c.747C= (p.Phe249=) | |
| 15 | g.89210774G>T | CA393728868 | RLBP1 | c.720C>A (p.Phe240Leu) c.102-10C>A c.*298C>A (n.*298C>A) c.645C>A (p.Phe215Leu) c.747C>A (p.Phe249Leu) | dbSNP |
| 15 | g.89210775A= | CA2194508386 | RLBP1 | c.719T= (p.Phe240=) c.102-11T= c.*297T= (n.*297T=) c.644T= (p.Phe215=) c.746T= (p.Phe249=) | |
| 15 | g.89210775A>C | CA393728870 | RLBP1 | c.719T>G (p.Phe240Cys) c.102-11T>G c.*297T>G (n.*297T>G) c.644T>G (p.Phe215Cys) c.746T>G (p.Phe249Cys) | |
| 15 | g.89210775A>G | CA393728871 | RLBP1 | c.719T>C (p.Phe240Ser) c.102-11T>C c.*297T>C (n.*297T>C) c.644T>C (p.Phe215Ser) c.746T>C (p.Phe249Ser) | dbSNP gnomAD v4 |
| 15 | g.89210775A>T | CA393728869 | RLBP1 | c.719T>A (p.Phe240Tyr) c.102-11T>A c.*297T>A (n.*297T>A) c.644T>A (p.Phe215Tyr) c.746T>A (p.Phe249Tyr) | |
| 15 | g.89210775_89210776insCCTTTCTGGTTTCTACC | CA2194508404 | RLBP1 | c.718_719insGGTAGAAACCAGAAAGG (p.Phe240TrpfsTer2) c.102-12_102-11insGGTAGAAACCAGAAAGG c.*296_*297insGGTAGAAACCAGAAAGG (n.*296_*297insGGTAGAAACCAGAAAGG) c.643_644insGGTAGAAACCAGAAAGG (p.Phe215TrpfsTer2) c.745_746insGGTAGAAACCAGAAAGG (p.Phe249TrpfsTer2) | dbSNP |
| 15 | g.89210776A>C | CA393728874 | RLBP1 | c.718T>G (p.Phe240Val) c.102-12T>G c.*296T>G (n.*296T>G) c.643T>G (p.Phe215Val) c.745T>G (p.Phe249Val) | |
| 15 | g.89210776A>G | CA393728872 | RLBP1 | c.718T>C (p.Phe240Leu) c.102-12T>C c.*296T>C (n.*296T>C) c.643T>C (p.Phe215Leu) c.745T>C (p.Phe249Leu) | |
| 15 | g.89210776A>T | CA393728873 | RLBP1 | c.718T>A (p.Phe240Ile) c.102-12T>A c.*296T>A (n.*296T>A) c.643T>A (p.Phe215Ile) c.745T>A (p.Phe249Ile) | |
| 15 | g.89210777G>A | CA492075435 | RLBP1 | c.717C>T (p.His239=) c.102-13C>T c.*295C>T (n.*295C>T) c.642C>T (p.His214=) c.744C>T (p.His248=) | |
| 15 | g.89210777G>C | CA393728875 | RLBP1 | c.717C>G (p.His239Gln) c.102-13C>G c.*295C>G (n.*295C>G) c.642C>G (p.His214Gln) c.744C>G (p.His248Gln) | |
| 15 | g.89210777G>T | CA393728876 | RLBP1 | c.717C>A (p.His239Gln) c.102-13C>A c.*295C>A (n.*295C>A) c.642C>A (p.His214Gln) c.744C>A (p.His248Gln) | |
| 15 | g.89210778T>A | CA7722205 | RLBP1 | c.716A>T (p.His239Leu) c.102-14A>T c.*294A>T (n.*294A>T) c.641A>T (p.His214Leu) c.743A>T (p.His248Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89210778T>C | CA393728877 | RLBP1 | c.716A>G (p.His239Arg) c.102-14A>G c.*294A>G (n.*294A>G) c.641A>G (p.His214Arg) c.743A>G (p.His248Arg) | |
| 15 | g.89210778T>G | CA393728878 | RLBP1 | c.716A>C (p.His239Pro) c.102-14A>C c.*294A>C (n.*294A>C) c.641A>C (p.His214Pro) c.743A>C (p.His248Pro) | dbSNP |
| 15 | g.89210778T= | CA2194508410 | RLBP1 | c.716A= (p.His239=) c.102-14A= c.*294A= (n.*294A=) c.641A= (p.His214=) c.743A= (p.His248=) | |
| 15 | g.89210779G>A | CA393728879 | RLBP1 | c.715C>T (p.His239Tyr) c.102-15C>T c.*293C>T (n.*293C>T) c.640C>T (p.His214Tyr) c.742C>T (p.His248Tyr) | gnomAD v4 |
| 15 | g.89210779G>C | CA393728881 | RLBP1 | c.715C>G (p.His239Asp) c.102-15C>G c.*293C>G (n.*293C>G) c.640C>G (p.His214Asp) c.742C>G (p.His248Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89210779G= | CA2194508414 | RLBP1 | c.715C= (p.His239=) c.102-15C= c.*293C= (n.*293C=) c.640C= (p.His214=) c.742C= (p.His248=) | |
| 15 | g.89210779G>T | CA393728880 | RLBP1 | c.715C>A (p.His239Asn) c.102-15C>A c.*293C>A (n.*293C>A) c.640C>A (p.His214Asn) c.742C>A (p.His248Asn) | |
| 15 | g.89210780G>A | CA492075453 | RLBP1 | c.714C>T (p.Ile238=) c.102-16C>T c.*292C>T (n.*292C>T) c.639C>T (p.Ile213=) c.741C>T (p.Ile247=) | ClinVar dbSNP |
| 15 | g.89210780G>C | CA393728882 | RLBP1 | c.714C>G (p.Ile238Met) c.102-16C>G c.*292C>G (n.*292C>G) c.639C>G (p.Ile213Met) c.741C>G (p.Ile247Met) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89210780G= | CA2194508417 | RLBP1 | c.714C= (p.Ile238=) c.102-16C= c.*292C= (n.*292C=) c.639C= (p.Ile213=) c.741C= (p.Ile247=) | |
| 15 | g.89210780G>T | CA492075457 | RLBP1 | c.714C>A (p.Ile238=) c.102-16C>A c.*292C>A (n.*292C>A) c.639C>A (p.Ile213=) c.741C>A (p.Ile247=) | gnomAD v4 COSMIC |
| 15 | g.89210781A= | CA2194508424 | RLBP1 | c.713T= (p.Ile238=) c.102-17T= c.*291T= (n.*291T=) c.638T= (p.Ile213=) c.740T= (p.Ile247=) | |
| 15 | g.89210781A>C | CA393728883 | RLBP1 | c.713T>G (p.Ile238Ser) c.102-17T>G c.*291T>G (n.*291T>G) c.638T>G (p.Ile213Ser) c.740T>G (p.Ile247Ser) | |
| 15 | g.89210781A>G | CA393728884 | RLBP1 | c.713T>C (p.Ile238Thr) c.102-17T>C c.*291T>C (n.*291T>C) c.638T>C (p.Ile213Thr) c.740T>C (p.Ile247Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89210781A>T | CA393728885 | RLBP1 | c.713T>A (p.Ile238Asn) c.102-17T>A c.*291T>A (n.*291T>A) c.638T>A (p.Ile213Asn) c.740T>A (p.Ile247Asn) | |
| 15 | g.89210782T>A | CA393728886 | RLBP1 | c.712A>T (p.Ile238Phe) c.102-18A>T c.*290A>T (n.*290A>T) c.637A>T (p.Ile213Phe) c.739A>T (p.Ile247Phe) | |
| 15 | g.89210782T>C | CA393728888 | RLBP1 | c.712A>G (p.Ile238Val) c.102-18A>G c.*290A>G (n.*290A>G) c.637A>G (p.Ile213Val) c.739A>G (p.Ile247Val) | |
| 15 | g.89210782T>G | CA393728887 | RLBP1 | c.712A>C (p.Ile238Leu) c.102-18A>C c.*290A>C (n.*290A>C) c.637A>C (p.Ile213Leu) c.739A>C (p.Ile247Leu) | dbSNP gnomAD v2 |
| 15 | g.89210782T= | CA2194508435 | RLBP1 | c.712A= (p.Ile238=) c.102-18A= c.*290A= (n.*290A=) c.637A= (p.Ile213=) c.739A= (p.Ile247=) | |
| 15 | g.89210783G>A | CA492075467 | RLBP1 | c.711C>T (p.Ala237=) c.102-19C>T c.*289C>T (n.*289C>T) c.636C>T (p.Ala212=) c.738C>T (p.Ala246=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89210783G>C | CA492075468 | RLBP1 | c.711C>G (p.Ala237=) c.102-19C>G c.*289C>G (n.*289C>G) c.636C>G (p.Ala212=) c.738C>G (p.Ala246=) | |
| 15 | g.89210783G= | CA2194508438 | RLBP1 | c.711C= (p.Ala237=) c.102-19C= c.*289C= (n.*289C=) c.636C= (p.Ala212=) c.738C= (p.Ala246=) | |
| 15 | g.89210783G>T | CA492075471 | RLBP1 | c.711C>A (p.Ala237=) c.102-19C>A c.*289C>A (n.*289C>A) c.636C>A (p.Ala212=) c.738C>A (p.Ala246=) | gnomAD v4 |
| 15 | g.89210784G>A | CA393728889 | RLBP1 | c.710C>T (p.Ala237Val) c.102-20C>T c.*288C>T (n.*288C>T) c.635C>T (p.Ala212Val) c.737C>T (p.Ala246Val) | ClinVar dbSNP gnomAD v4 |
| 15 | g.89210784G>C | CA393728890 | RLBP1 | c.710C>G (p.Ala237Gly) c.102-20C>G c.*288C>G (n.*288C>G) c.635C>G (p.Ala212Gly) c.737C>G (p.Ala246Gly) | |
| 15 | g.89210784G>T | CA393728891 | RLBP1 | c.710C>A (p.Ala237Asp) c.102-20C>A c.*288C>A (n.*288C>A) c.635C>A (p.Ala212Asp) c.737C>A (p.Ala246Asp) | gnomAD v4 |
| 15 | g.89210785C>A | CA393728892 | RLBP1 | c.709G>T (p.Ala237Ser) c.102-21G>T c.*287G>T (n.*287G>T) c.634G>T (p.Ala212Ser) c.736G>T (p.Ala246Ser) | gnomAD v4 |
| 15 | g.89210785C= | CA2194508444 | RLBP1 | c.709G= (p.Ala237=) c.102-21G= c.*287G= (n.*287G=) c.634G= (p.Ala212=) c.736G= (p.Ala246=) | |
| 15 | g.89210785C>G | CA393728893 | RLBP1 | c.709G>C (p.Ala237Pro) c.102-21G>C c.*287G>C (n.*287G>C) c.634G>C (p.Ala212Pro) c.736G>C (p.Ala246Pro) | dbSNP |
| 15 | g.89210785C>T | CA393728894 | RLBP1 | c.709G>A (p.Ala237Thr) c.102-21G>A c.*287G>A (n.*287G>A) c.634G>A (p.Ala212Thr) c.736G>A (p.Ala246Thr) | gnomAD v4 |
| 15 | g.89210786T>A | CA393728895 | RLBP1 | c.708A>T (p.Lys236Asn) c.102-22A>T c.*286A>T (n.*286A>T) c.633A>T (p.Lys211Asn) c.735A>T (p.Lys245Asn) | |
| 15 | g.89210786T>C | CA492075484 | RLBP1 | c.708A>G (p.Lys236=) c.102-22A>G c.*286A>G (n.*286A>G) c.633A>G (p.Lys211=) c.735A>G (p.Lys245=) | |
| 15 | g.89210786T>G | CA393728896 | RLBP1 | c.708A>C (p.Lys236Asn) c.102-22A>C c.*286A>C (n.*286A>C) c.633A>C (p.Lys211Asn) c.735A>C (p.Lys245Asn) | |
| 15 | g.89210787T>A | CA393728897 | RLBP1 | c.707A>T (p.Lys236Ile) c.102-23A>T c.*285A>T (n.*285A>T) c.632A>T (p.Lys211Ile) c.734A>T (p.Lys245Ile) | |
| 15 | g.89210787T>C | CA393728898 | RLBP1 | c.707A>G (p.Lys236Arg) c.102-23A>G c.*285A>G (n.*285A>G) c.632A>G (p.Lys211Arg) c.734A>G (p.Lys245Arg) | |
| 15 | g.89210787T>G | CA393728899 | RLBP1 | c.707A>C (p.Lys236Thr) c.102-23A>C c.*285A>C (n.*285A>C) c.632A>C (p.Lys211Thr) c.734A>C (p.Lys245Thr) | |
| 15 | g.89210788T>A | CA393728902 | RLBP1 | c.706A>T (p.Lys236Ter) c.102-24A>T c.*284A>T (n.*284A>T) c.631A>T (p.Lys211Ter) c.733A>T (p.Lys245Ter) | |
| 15 | g.89210788T>C | CA393728901 | RLBP1 | c.706A>G (p.Lys236Glu) c.102-24A>G c.*284A>G (n.*284A>G) c.631A>G (p.Lys211Glu) c.733A>G (p.Lys245Glu) | |
| 15 | g.89210788T>G | CA393728900 | RLBP1 | c.706A>C (p.Lys236Gln) c.102-24A>C c.*284A>C (n.*284A>C) c.631A>C (p.Lys211Gln) c.733A>C (p.Lys245Gln) | |
| 15 | g.89210789G>A | CA492075498 | RLBP1 | c.705C>T (p.Phe235=) c.102-25C>T c.*283C>T (n.*283C>T) c.630C>T (p.Phe210=) c.732C>T (p.Phe244=) | |
| 15 | g.89210789G>C | CA393728903 | RLBP1 | c.705C>G (p.Phe235Leu) c.102-25C>G c.*283C>G (n.*283C>G) c.630C>G (p.Phe210Leu) c.732C>G (p.Phe244Leu) | COSMIC |
| 15 | g.89210789G>T | CA393728904 | RLBP1 | c.705C>A (p.Phe235Leu) c.102-25C>A c.*283C>A (n.*283C>A) c.630C>A (p.Phe210Leu) c.732C>A (p.Phe244Leu) | gnomAD v4 |
| 15 | g.89210790A>C | CA393728905 | RLBP1 | c.704T>G (p.Phe235Cys) c.102-26T>G c.*282T>G (n.*282T>G) c.629T>G (p.Phe210Cys) c.731T>G (p.Phe244Cys) | |
| 15 | g.89210790A>G | CA393728906 | RLBP1 | c.704T>C (p.Phe235Ser) c.102-26T>C c.*282T>C (n.*282T>C) c.629T>C (p.Phe210Ser) c.731T>C (p.Phe244Ser) | |
| 15 | g.89210790A>T | CA393728907 | RLBP1 | c.704T>A (p.Phe235Tyr) c.102-26T>A c.*282T>A (n.*282T>A) c.629T>A (p.Phe210Tyr) c.731T>A (p.Phe244Tyr) | |
| 15 | g.89210791A>C | CA393728908 | RLBP1 | c.703T>G (p.Phe235Val) c.102-27T>G c.*281T>G (n.*281T>G) c.628T>G (p.Phe210Val) c.730T>G (p.Phe244Val) | |
| 15 | g.89210791A>G | CA393728909 | RLBP1 | c.703T>C (p.Phe235Leu) c.102-27T>C c.*281T>C (n.*281T>C) c.628T>C (p.Phe210Leu) c.730T>C (p.Phe244Leu) | |
| 15 | g.89210791A>T | CA393728910 | RLBP1 | c.703T>A (p.Phe235Ile) c.102-27T>A c.*281T>A (n.*281T>A) c.628T>A (p.Phe210Ile) c.730T>A (p.Phe244Ile) | |
| 15 | g.89210792C>A | CA7722206 | RLBP1 | c.702G>T (p.Arg234=) c.102-28G>T c.*280G>T (n.*280G>T) c.627G>T (p.Arg209=) c.729G>T (p.Arg243=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89210792C= | CA2194508447 | RLBP1 | c.702G= (p.Arg234=) c.102-28G= c.*280G= (n.*280G=) c.627G= (p.Arg209=) c.729G= (p.Arg243=) | |
| 15 | g.89210792C>G | CA492075513 | RLBP1 | c.702G>C (p.Arg234=) c.102-28G>C c.*280G>C (n.*280G>C) c.627G>C (p.Arg209=) c.729G>C (p.Arg243=) | |
| 15 | g.89210792C>T | CA492075514 | RLBP1 | c.702G>A (p.Arg234=) c.102-28G>A c.*280G>A (n.*280G>A) c.627G>A (p.Arg209=) c.729G>A (p.Arg243=) | gnomAD v4 |
| 15 | g.89210793C>A | CA7722207 | RLBP1 | c.701G>T (p.Arg234Leu) c.102-29G>T c.*279G>T (n.*279G>T) c.626G>T (p.Arg209Leu) c.728G>T (p.Arg243Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89210793C= | CA2194508450 | RLBP1 | c.701G= (p.Arg234=) c.102-29G= c.*279G= (n.*279G=) c.626G= (p.Arg209=) c.728G= (p.Arg243=) | |
| 15 | g.89210793C>G | CA393728911 | RLBP1 | c.701G>C (p.Arg234Pro) c.102-29G>C c.*279G>C (n.*279G>C) c.626G>C (p.Arg209Pro) c.728G>C (p.Arg243Pro) | |
| 15 | g.89210793C>T | CA7722208 | RLBP1 | c.701G>A (p.Arg234Gln) c.102-29G>A c.*279G>A (n.*279G>A) c.626G>A (p.Arg209Gln) c.728G>A (p.Arg243Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89210794G>A | CA122839 | RLBP1 | c.700C>T (p.Arg234Trp) c.102-30C>T c.*278C>T (n.*278C>T) c.625C>T (p.Arg209Trp) c.727C>T (p.Arg243Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89210794G>C | CA393728912 | RLBP1 | c.700C>G (p.Arg234Gly) c.102-30C>G c.*278C>G (n.*278C>G) c.625C>G (p.Arg209Gly) c.727C>G (p.Arg243Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89210794G= | CA2194508455 | RLBP1 | c.700C= (p.Arg234=) c.102-30C= c.*278C= (n.*278C=) c.625C= (p.Arg209=) c.727C= (p.Arg243=) | |
| 15 | g.89210794G>T | CA492075527 | RLBP1 | c.700C>A (p.Arg234=) c.102-30C>A c.*278C>A (n.*278C>A) c.625C>A (p.Arg209=) c.727C>A (p.Arg243=) | gnomAD v4 |
| 15 | g.89210795G>A | CA492075529 | RLBP1 | c.699C>T (p.Ala233=) c.102-31C>T c.*277C>T (n.*277C>T) c.624C>T (p.Ala208=) c.726C>T (p.Ala242=) | ClinVar dbSNP gnomAD v2 |
| 15 | g.89210795G>C | CA492075532 | RLBP1 | c.699C>G (p.Ala233=) c.102-31C>G c.*277C>G (n.*277C>G) c.624C>G (p.Ala208=) c.726C>G (p.Ala242=) | gnomAD v4 |
| 15 | g.89210795G= | CA2194508459 | RLBP1 | c.699C= (p.Ala233=) c.102-31C= c.*277C= (n.*277C=) c.624C= (p.Ala208=) c.726C= (p.Ala242=) | |
| 15 | g.89210795G>T | CA7722209 | RLBP1 | c.699C>A (p.Ala233=) c.102-31C>A c.*277C>A (n.*277C>A) c.624C>A (p.Ala208=) c.726C>A (p.Ala242=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89210796G>A | CA393728913 | RLBP1 | c.698C>T (p.Ala233Val) c.102-32C>T c.*276C>T (n.*276C>T) c.623C>T (p.Ala208Val) c.725C>T (p.Ala242Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89210796G>C | CA393728915 | RLBP1 | c.698C>G (p.Ala233Gly) c.102-32C>G c.*276C>G (n.*276C>G) c.623C>G (p.Ala208Gly) c.725C>G (p.Ala242Gly) | |
| 15 | g.89210796G= | CA2194508464 | RLBP1 | c.698C= (p.Ala233=) c.102-32C= c.*276C= (n.*276C=) c.623C= (p.Ala208=) c.725C= (p.Ala242=) | |
| 15 | g.89210796G>T | CA393728914 | RLBP1 | c.698C>A (p.Ala233Asp) c.102-32C>A c.*276C>A (n.*276C>A) c.623C>A (p.Ala208Asp) c.725C>A (p.Ala242Asp) | gnomAD v4 |
| 15 | g.89210797C>A | CA393728916 | RLBP1 | c.697G>T (p.Ala233Ser) c.102-33G>T c.*275G>T (n.*275G>T) c.622G>T (p.Ala208Ser) c.724G>T (p.Ala242Ser) | gnomAD v4 |
| 15 | g.89210797C>G | CA393728917 | RLBP1 | c.697G>C (p.Ala233Pro) c.102-33G>C c.*275G>C (n.*275G>C) c.622G>C (p.Ala208Pro) c.724G>C (p.Ala242Pro) | |
| 15 | g.89210797C>T | CA393728918 | RLBP1 | c.697G>A (p.Ala233Thr) c.102-33G>A c.*275G>A (n.*275G>A) c.622G>A (p.Ala208Thr) c.724G>A (p.Ala242Thr) | |
| 15 | g.89210798T>A | CA492075544 | RLBP1 | c.696A>T (p.Pro232=) c.102-34A>T c.*274A>T (n.*274A>T) c.621A>T (p.Pro207=) c.723A>T (p.Pro241=) | |
| 15 | g.89210798T>C | CA492075545 | RLBP1 | c.696A>G (p.Pro232=) c.102-34A>G c.*274A>G (n.*274A>G) c.621A>G (p.Pro207=) c.723A>G (p.Pro241=) | |
| 15 | g.89210798T>G | CA492075547 | RLBP1 | c.696A>C (p.Pro232=) c.102-34A>C c.*274A>C (n.*274A>C) c.621A>C (p.Pro207=) c.723A>C (p.Pro241=) | |
| 15 | g.89210799G>A | CA393728919 | RLBP1 | c.695C>T (p.Pro232Leu) c.102-35C>T c.*273C>T (n.*273C>T) c.620C>T (p.Pro207Leu) c.722C>T (p.Pro241Leu) | gnomAD v4 |
| 15 | g.89210799G>C | CA393728920 | RLBP1 | c.695C>G (p.Pro232Arg) c.102-35C>G c.*273C>G (n.*273C>G) c.620C>G (p.Pro207Arg) c.722C>G (p.Pro241Arg) | |
| 15 | g.89210799G= | CA2194508473 | RLBP1 | c.695C= (p.Pro232=) c.102-35C= c.*273C= (n.*273C=) c.620C= (p.Pro207=) c.722C= (p.Pro241=) | |
| 15 | g.89210799G>T | CA393728921 | RLBP1 | c.695C>A (p.Pro232Gln) c.102-35C>A c.*273C>A (n.*273C>A) c.620C>A (p.Pro207Gln) c.722C>A (p.Pro241Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89210801del | CA2575831846 | RLBP1 | c.695del (p.Pro232GlnfsTer27) c.102-35del c.*273del (n.*273del) c.620del (p.Pro207GlnfsTer27) c.722del (p.Pro241GlnfsTer27) |