UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.86643819_86643820del | CA2500079343 | CNGB3 | c.1110_1111del (p.Tyr371LeufsTer7) n.930_931del c.696_697del (p.Tyr233LeufsTer7) | |
| 8 | g.86643819A= | CA1799825793 | CNGB3 | c.1110T= (p.Val370=) n.930T= c.696T= (p.Val232=) | |
| 8 | g.86643819A>C | CA461815831 | CNGB3 | c.1110T>G (p.Val370=) n.930T>G c.696T>G (p.Val232=) | |
| 8 | g.86643819A>G | CA4800156 | CNGB3 | c.1110T>C (p.Val370=) n.930T>C c.696T>C (p.Val232=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86643819A>T | CA461815832 | CNGB3 | c.1110T>A (p.Val370=) n.930T>A c.696T>A (p.Val232=) | dbSNP |
| 8 | g.86643820A>C | CA371446843 | CNGB3 | c.1109T>G (p.Val370Gly) n.929T>G c.695T>G (p.Val232Gly) | |
| 8 | g.86643820A>G | CA371446845 | CNGB3 | c.1109T>C (p.Val370Ala) n.929T>C c.695T>C (p.Val232Ala) | gnomAD v4 |
| 8 | g.86643820A>T | CA371446844 | CNGB3 | c.1109T>A (p.Val370Asp) n.929T>A c.695T>A (p.Val232Asp) | |
| 8 | g.86643821C>A | CA371446846 | CNGB3 | c.1108G>T (p.Val370Phe) n.928G>T c.694G>T (p.Val232Phe) | |
| 8 | g.86643821C>G | CA371446847 | CNGB3 | c.1108G>C (p.Val370Leu) n.928G>C c.694G>C (p.Val232Leu) | |
| 8 | g.86643821C>T | CA371446848 | CNGB3 | c.1108G>A (p.Val370Ile) n.928G>A c.694G>A (p.Val232Ile) | |
| 8 | g.86643822A>C | CA371446849 | CNGB3 | c.1107T>G (p.Cys369Trp) n.927T>G c.693T>G (p.Cys231Trp) | |
| 8 | g.86643822A>G | CA461815833 | CNGB3 | c.1107T>C (p.Cys369=) n.927T>C c.693T>C (p.Cys231=) | |
| 8 | g.86643822A>T | CA371446850 | CNGB3 | c.1107T>A (p.Cys369Ter) n.927T>A c.693T>A (p.Cys231Ter) | ClinVar |
| 8 | g.86643822_86643823insAG | CA2533640018 | CNGB3 | c.1106_1107insCT (p.Val370LeufsTer27) n.926_927insCT c.692_693insCT (p.Val232LeufsTer27) | |
| 8 | g.86643823C>A | CA371446853 | CNGB3 | c.1106G>T (p.Cys369Phe) n.926G>T c.692G>T (p.Cys231Phe) | |
| 8 | g.86643823C>G | CA371446852 | CNGB3 | c.1106G>C (p.Cys369Ser) n.926G>C c.692G>C (p.Cys231Ser) | |
| 8 | g.86643823C>T | CA371446851 | CNGB3 | c.1106G>A (p.Cys369Tyr) n.926G>A c.692G>A (p.Cys231Tyr) | gnomAD v4 |
| 8 | g.86643823_86643824delinsCA | CA1799825797 | CNGB3 | c.1105_1106delinsTG (p.Cys369=) n.925_926delinsTG c.691_692delinsTG (p.Cys231=) | |
| 8 | g.86643824del | CA1799825802 | CNGB3 | c.1105del (p.Cys369ValfsTer27) n.925del c.691del (p.Cys231ValfsTer27) | dbSNP |
| 8 | g.86643824A>C | CA371446854 | CNGB3 | c.1105T>G (p.Cys369Gly) n.925T>G c.691T>G (p.Cys231Gly) | |
| 8 | g.86643824A>G | CA371446855 | CNGB3 | c.1105T>C (p.Cys369Arg) n.925T>C c.691T>C (p.Cys231Arg) | |
| 8 | g.86643824A>T | CA371446856 | CNGB3 | c.1105T>A (p.Cys369Ser) n.925T>A c.691T>A (p.Cys231Ser) | |
| 8 | g.86643825_86643832del | CA2687825204 | CNGB3 | c.1098_1105del (p.Ile366MetfsTer10) n.918_925del c.684_691del (p.Ile228MetfsTer10) | gnomAD v4 |
| 8 | g.86643825G>A | CA461815835 | CNGB3 | c.1104C>T (p.Ala368=) n.924C>T c.690C>T (p.Ala230=) | |
| 8 | g.86643825G>C | CA461815837 | CNGB3 | c.1104C>G (p.Ala368=) n.924C>G c.690C>G (p.Ala230=) | |
| 8 | g.86643825G>T | CA461815836 | CNGB3 | c.1104C>A (p.Ala368=) n.924C>A c.690C>A (p.Ala230=) | |
| 8 | g.86643826G>A | CA371446857 | CNGB3 | c.1103C>T (p.Ala368Val) n.923C>T c.689C>T (p.Ala230Val) | gnomAD v4 COSMIC |
| 8 | g.86643826G>C | CA371446858 | CNGB3 | c.1103C>G (p.Ala368Gly) n.923C>G c.689C>G (p.Ala230Gly) | |
| 8 | g.86643826G>T | CA371446859 | CNGB3 | c.1103C>A (p.Ala368Asp) n.923C>A c.689C>A (p.Ala230Asp) | dbSNP COSMIC |
| 8 | g.86643827C>A | CA371446860 | CNGB3 | c.1102G>T (p.Ala368Ser) n.922G>T c.688G>T (p.Ala230Ser) | |
| 8 | g.86643827C= | CA1799825805 | CNGB3 | c.1102G= (p.Ala368=) n.922G= c.688G= (p.Ala230=) | |
| 8 | g.86643827C>G | CA371446862 | CNGB3 | c.1102G>C (p.Ala368Pro) n.922G>C c.688G>C (p.Ala230Pro) | |
| 8 | g.86643827C>T | CA371446861 | CNGB3 | c.1102G>A (p.Ala368Thr) n.922G>A c.688G>A (p.Ala230Thr) | |
| 8 | g.86643828A>C | CA371446863 | CNGB3 | c.1101T>G (p.Asn367Lys) n.921T>G c.687T>G (p.Asn229Lys) | gnomAD v4 |
| 8 | g.86643828A>G | CA461815838 | CNGB3 | c.1101T>C (p.Asn367=) n.921T>C c.687T>C (p.Asn229=) | gnomAD v4 |
| 8 | g.86643828A>T | CA371446864 | CNGB3 | c.1101T>A (p.Asn367Lys) n.921T>A c.687T>A (p.Asn229Lys) | |
| 8 | g.86643830_86643833dup | CA16042757 | CNGB3 | c.1098_1101dup (p.Ala368Ter) n.918_921dup c.684_687dup (p.Ala230Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.86643829T>A | CA371446865 | CNGB3 | c.1100A>T (p.Asn367Ile) n.920A>T c.686A>T (p.Asn229Ile) | |
| 8 | g.86643829T>C | CA4800157 | CNGB3 | c.1100A>G (p.Asn367Ser) n.920A>G c.686A>G (p.Asn229Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86643829T>G | CA371446866 | CNGB3 | c.1100A>C (p.Asn367Thr) n.920A>C c.686A>C (p.Asn229Thr) | |
| 8 | g.86643829T= | CA1799825813 | CNGB3 | c.1100A= (p.Asn367=) n.920A= c.686A= (p.Asn229=) | |
| 8 | g.86643830T>A | CA371446867 | CNGB3 | c.1099A>T (p.Asn367Tyr) n.919A>T c.685A>T (p.Asn229Tyr) | |
| 8 | g.86643830T>C | CA371446868 | CNGB3 | c.1099A>G (p.Asn367Asp) n.919A>G c.685A>G (p.Asn229Asp) | |
| 8 | g.86643830T>G | CA371446869 | CNGB3 | c.1099A>C (p.Asn367His) n.919A>C c.685A>C (p.Asn229His) | |
| 8 | g.86643831A= | CA1799825816 | CNGB3 | c.1098T= (p.Ile366=) n.918T= c.684T= (p.Ile228=) | |
| 8 | g.86643831A>C | CA371446870 | CNGB3 | c.1098T>G (p.Ile366Met) n.918T>G c.684T>G (p.Ile228Met) | |
| 8 | g.86643831A>G | CA461815839 | CNGB3 | c.1098T>C (p.Ile366=) n.918T>C c.684T>C (p.Ile228=) | dbSNP gnomAD v2 |
| 8 | g.86643831A>T | CA461815840 | CNGB3 | c.1098T>A (p.Ile366=) n.918T>A c.684T>A (p.Ile228=) | |
| 8 | g.86643832A>C | CA371446871 | CNGB3 | c.1097T>G (p.Ile366Ser) n.917T>G c.683T>G (p.Ile228Ser) | |
| 8 | g.86643832A>G | CA371446873 | CNGB3 | c.1097T>C (p.Ile366Thr) n.917T>C c.683T>C (p.Ile228Thr) | |
| 8 | g.86643832A>T | CA371446872 | CNGB3 | c.1097T>A (p.Ile366Asn) n.917T>A c.683T>A (p.Ile228Asn) | |
| 8 | g.86643833T>A | CA371446874 | CNGB3 | c.1096A>T (p.Ile366Phe) n.916A>T c.682A>T (p.Ile228Phe) | |
| 8 | g.86643833T>C | CA180348234 | CNGB3 | c.1096A>G (p.Ile366Val) n.916A>G c.682A>G (p.Ile228Val) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86643833T>G | CA371446875 | CNGB3 | c.1096A>C (p.Ile366Leu) n.916A>C c.682A>C (p.Ile228Leu) | gnomAD v4 |
| 8 | g.86643833T= | CA1799825817 | CNGB3 | c.1096A= (p.Ile366=) n.916A= c.682A= (p.Ile228=) | |
| 8 | g.86643834G>A | CA461815841 | CNGB3 | c.1095C>T (p.His365=) n.915C>T c.681C>T (p.His227=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.86643834G>C | CA371446876 | CNGB3 | c.1095C>G (p.His365Gln) n.915C>G c.681C>G (p.His227Gln) | |
| 8 | g.86643834G>T | CA371446877 | CNGB3 | c.1095C>A (p.His365Gln) n.915C>A c.681C>A (p.His227Gln) | dbSNP |
| 8 | g.86643835T>A | CA371446878 | CNGB3 | c.1094A>T (p.His365Leu) n.914A>T c.680A>T (p.His227Leu) | |
| 8 | g.86643835T>C | CA371446879 | CNGB3 | c.1094A>G (p.His365Arg) n.914A>G c.680A>G (p.His227Arg) | |
| 8 | g.86643835T>G | CA371446880 | CNGB3 | c.1094A>C (p.His365Pro) n.914A>C c.680A>C (p.His227Pro) | |
| 8 | g.86643836G>A | CA371446881 | CNGB3 | c.1093C>T (p.His365Tyr) n.913C>T c.679C>T (p.His227Tyr) | |
| 8 | g.86643836G>C | CA371446882 | CNGB3 | c.1093C>G (p.His365Asp) n.913C>G c.679C>G (p.His227Asp) | |
| 8 | g.86643836G= | CA1799825821 | CNGB3 | c.1093C= (p.His365=) n.913C= c.679C= (p.His227=) | |
| 8 | g.86643836G>T | CA371446883 | CNGB3 | c.1093C>A (p.His365Asn) n.913C>A c.679C>A (p.His227Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86643837C>A | CA461815842 | CNGB3 | c.1092G>T (p.Leu364=) n.912G>T c.678G>T (p.Leu226=) | |
| 8 | g.86643837C= | CA1799825826 | CNGB3 | c.1092G= (p.Leu364=) n.912G= c.678G= (p.Leu226=) | |
| 8 | g.86643837C>G | CA461815843 | CNGB3 | c.1092G>C (p.Leu364=) n.912G>C c.678G>C (p.Leu226=) | ClinVar |
| 8 | g.86643837C>T | CA180348255 | CNGB3 | c.1092G>A (p.Leu364=) n.912G>A c.678G>A (p.Leu226=) | dbSNP |
| 8 | g.86643838A>C | CA371446884 | CNGB3 | c.1091T>G (p.Leu364Arg) n.911T>G c.677T>G (p.Leu226Arg) | |
| 8 | g.86643838A>G | CA371446885 | CNGB3 | c.1091T>C (p.Leu364Pro) n.911T>C c.677T>C (p.Leu226Pro) | |
| 8 | g.86643838A>T | CA371446886 | CNGB3 | c.1091T>A (p.Leu364Gln) n.911T>A c.677T>A (p.Leu226Gln) | |
| 8 | g.86643839G>A | CA461815844 | CNGB3 | c.1090C>T (p.Leu364=) n.910C>T c.676C>T (p.Leu226=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86643839G>C | CA371446887 | CNGB3 | c.1090C>G (p.Leu364Val) n.910C>G c.676C>G (p.Leu226Val) | |
| 8 | g.86643839G= | CA1799825828 | CNGB3 | c.1090C= (p.Leu364=) n.910C= c.676C= (p.Leu226=) | |
| 8 | g.86643839G>T | CA371446888 | CNGB3 | c.1090C>A (p.Leu364Met) n.910C>A c.676C>A (p.Leu226Met) | |
| 8 | g.86643840A>C | CA371446889 | CNGB3 | c.1089T>G (p.Ile363Met) n.909T>G c.675T>G (p.Ile225Met) | |
| 8 | g.86643840A>G | CA461815845 | CNGB3 | c.1089T>C (p.Ile363=) n.909T>C c.675T>C (p.Ile225=) | |
| 8 | g.86643840A>T | CA461815846 | CNGB3 | c.1089T>A (p.Ile363=) n.909T>A c.675T>A (p.Ile225=) | |
| 8 | g.86643841A>C | CA371446890 | CNGB3 | c.1088T>G (p.Ile363Ser) n.908T>G c.674T>G (p.Ile225Ser) | |
| 8 | g.86643841A>G | CA371446891 | CNGB3 | c.1088T>C (p.Ile363Thr) n.908T>C c.674T>C (p.Ile225Thr) | |
| 8 | g.86643841A>T | CA371446892 | CNGB3 | c.1088T>A (p.Ile363Asn) n.908T>A c.674T>A (p.Ile225Asn) | |
| 8 | g.86643842T>A | CA371446893 | CNGB3 | c.1087A>T (p.Ile363Phe) n.907A>T c.673A>T (p.Ile225Phe) | ClinVar dbSNP gnomAD v4 |
| 8 | g.86643842T>C | CA4800158 | CNGB3 | c.1087A>G (p.Ile363Val) n.907A>G c.673A>G (p.Ile225Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.86643842T>G | CA371446894 | CNGB3 | c.1087A>C (p.Ile363Leu) n.907A>C c.673A>C (p.Ile225Leu) | |
| 8 | g.86643842T= | CA1799825831 | CNGB3 | c.1087A= (p.Ile363=) n.907A= c.673A= (p.Ile225=) | |
| 8 | g.86643843A= | CA1799825836 | CNGB3 | c.1086T= (p.Phe362=) n.906T= c.672T= (p.Phe224=) | |
| 8 | g.86643843A>C | CA371446895 | CNGB3 | c.1086T>G (p.Phe362Leu) n.906T>G c.672T>G (p.Phe224Leu) | |
| 8 | g.86643843A>G | CA180348285 | CNGB3 | c.1086T>C (p.Phe362=) n.906T>C c.672T>C (p.Phe224=) | ClinVar dbSNP |
| 8 | g.86643843A>T | CA371446896 | CNGB3 | c.1086T>A (p.Phe362Leu) n.906T>A c.672T>A (p.Phe224Leu) | |
| 8 | g.86643844A= | CA1799825839 | CNGB3 | c.1085T= (p.Phe362=) n.905T= c.671T= (p.Phe224=) | |
| 8 | g.86643844A>C | CA371446897 | CNGB3 | c.1085T>G (p.Phe362Cys) n.905T>G c.671T>G (p.Phe224Cys) | dbSNP gnomAD v4 |
| 8 | g.86643844A>G | CA371446898 | CNGB3 | c.1085T>C (p.Phe362Ser) n.905T>C c.671T>C (p.Phe224Ser) | |
| 8 | g.86643844A>T | CA371446899 | CNGB3 | c.1085T>A (p.Phe362Tyr) n.905T>A c.671T>A (p.Phe224Tyr) | |
| 8 | g.86643845A>C | CA371446900 | CNGB3 | c.1084T>G (p.Phe362Val) n.904T>G c.670T>G (p.Phe224Val) | |
| 8 | g.86643845A>G | CA371446902 | CNGB3 | c.1084T>C (p.Phe362Leu) n.904T>C c.670T>C (p.Phe224Leu) | gnomAD v4 |
| 8 | g.86643845A>T | CA371446901 | CNGB3 | c.1084T>A (p.Phe362Ile) n.904T>A c.670T>A (p.Phe224Ile) | ClinVar gnomAD v4 |
| 8 | g.86643846C>A | CA461815847 | CNGB3 | c.1083G>T (p.Leu361=) n.903G>T c.669G>T (p.Leu223=) | |
| 8 | g.86643846C>G | CA461815848 | CNGB3 | c.1083G>C (p.Leu361=) n.903G>C c.669G>C (p.Leu223=) | gnomAD v4 |
| 8 | g.86643846C>T | CA461815849 | CNGB3 | c.1083G>A (p.Leu361=) n.903G>A c.669G>A (p.Leu223=) | |
| 8 | g.86643847A>C | CA371446903 | CNGB3 | c.1082T>G (p.Leu361Arg) n.902T>G c.668T>G (p.Leu223Arg) | |
| 8 | g.86643847A>G | CA371446904 | CNGB3 | c.1082T>C (p.Leu361Pro) n.902T>C c.668T>C (p.Leu223Pro) | |
| 8 | g.86643847A>T | CA371446905 | CNGB3 | c.1082T>A (p.Leu361Gln) n.902T>A c.668T>A (p.Leu223Gln) | |
| 8 | g.86643848G>A | CA461815850 | CNGB3 | c.1081C>T (p.Leu361=) n.901C>T c.667C>T (p.Leu223=) | gnomAD v3 gnomAD v4 |
| 8 | g.86643848G>C | CA371446906 | CNGB3 | c.1081C>G (p.Leu361Val) n.901C>G c.667C>G (p.Leu223Val) | |
| 8 | g.86643848G= | CA1799825843 | CNGB3 | c.1081C= (p.Leu361=) n.901C= c.667C= (p.Leu223=) | |
| 8 | g.86643848G>T | CA180348286 | CNGB3 | c.1081C>A (p.Leu361Met) n.901C>A c.667C>A (p.Leu223Met) | dbSNP |
| 8 | g.86643849C>A | CA371446907 | CNGB3 | c.1080G>T (p.Leu360Phe) n.900G>T c.666G>T (p.Leu222Phe) | |
| 8 | g.86643849C>G | CA371446908 | CNGB3 | c.1080G>C (p.Leu360Phe) n.900G>C c.666G>C (p.Leu222Phe) | |
| 8 | g.86643849C>T | CA461815852 | CNGB3 | c.1080G>A (p.Leu360=) n.900G>A c.666G>A (p.Leu222=) | |
| 8 | g.86643850A= | CA1799825845 | CNGB3 | c.1079T= (p.Leu360=) n.899T= c.665T= (p.Leu222=) | |
| 8 | g.86643850A>C | CA371446909 | CNGB3 | c.1079T>G (p.Leu360Trp) n.899T>G c.665T>G (p.Leu222Trp) | |
| 8 | g.86643850A>G | CA371446910 | CNGB3 | c.1079T>C (p.Leu360Ser) n.899T>C c.665T>C (p.Leu222Ser) | |
| 8 | g.86643850A>T | CA371446911 | CNGB3 | c.1079T>A (p.Leu360Ter) n.899T>A c.665T>A (p.Leu222Ter) | dbSNP |
| 8 | g.86643851A>C | CA371446912 | CNGB3 | c.1078T>G (p.Leu360Val) n.898T>G c.664T>G (p.Leu222Val) | |
| 8 | g.86643851A>G | CA461815856 | CNGB3 | c.1078T>C (p.Leu360=) n.898T>C c.664T>C (p.Leu222=) | |
| 8 | g.86643851A>T | CA371446913 | CNGB3 | c.1078T>A (p.Leu360Met) n.898T>A c.664T>A (p.Leu222Met) | |
| 8 | g.86643852G>A | CA461815857 | CNGB3 | c.1077C>T (p.Tyr359=) n.897C>T c.663C>T (p.Tyr221=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.86643852G>C | CA371446915 | CNGB3 | c.1077C>G (p.Tyr359Ter) n.897C>G c.663C>G (p.Tyr221Ter) | |
| 8 | g.86643852G>T | CA371446914 | CNGB3 | c.1077C>A (p.Tyr359Ter) n.897C>A c.663C>A (p.Tyr221Ter) | |
| 8 | g.86643853T>A | CA371446916 | CNGB3 | c.1076A>T (p.Tyr359Phe) n.896A>T c.662A>T (p.Tyr221Phe) | |
| 8 | g.86643853T>C | CA371446917 | CNGB3 | c.1076A>G (p.Tyr359Cys) n.896A>G c.662A>G (p.Tyr221Cys) | gnomAD v4 |
| 8 | g.86643853T>G | CA371446918 | CNGB3 | c.1076A>C (p.Tyr359Ser) n.896A>C c.662A>C (p.Tyr221Ser) | |
| 8 | g.86643854A= | CA1799825849 | CNGB3 | c.1075T= (p.Tyr359=) n.895T= c.661T= (p.Tyr221=) | |
| 8 | g.86643854A>C | CA371446919 | CNGB3 | c.1075T>G (p.Tyr359Asp) n.895T>G c.661T>G (p.Tyr221Asp) | |
| 8 | g.86643854A>G | CA371446920 | CNGB3 | c.1075T>C (p.Tyr359His) n.895T>C c.661T>C (p.Tyr221His) | dbSNP |
| 8 | g.86643854A>T | CA371446921 | CNGB3 | c.1075T>A (p.Tyr359Asn) n.895T>A c.661T>A (p.Tyr221Asn) | |
| 8 | g.86643855T>A | CA461815860 | CNGB3 | c.1074A>T (p.Gly358=) n.894A>T c.660A>T (p.Gly220=) | |
| 8 | g.86643855T>C | CA461815859 | CNGB3 | c.1074A>G (p.Gly358=) n.894A>G c.660A>G (p.Gly220=) | |
| 8 | g.86643855T>G | CA461815858 | CNGB3 | c.1074A>C (p.Gly358=) n.894A>C c.660A>C (p.Gly220=) | |
| 8 | g.86643856C>A | CA371446922 | CNGB3 | c.1073G>T (p.Gly358Val) n.893G>T c.659G>T (p.Gly220Val) | |
| 8 | g.86643856C= | CA1799825853 | CNGB3 | c.1073G= (p.Gly358=) n.893G= c.659G= (p.Gly220=) | |
| 8 | g.86643856C>G | CA371446923 | CNGB3 | c.1073G>C (p.Gly358Ala) n.893G>C c.659G>C (p.Gly220Ala) | |
| 8 | g.86643856C>T | CA371446924 | CNGB3 | c.1073G>A (p.Gly358Glu) n.893G>A c.659G>A (p.Gly220Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86643857C>A | CA371446925 | CNGB3 | c.1072G>T (p.Gly358Ter) n.892G>T c.658G>T (p.Gly220Ter) | |
| 8 | g.86643857C>G | CA371446926 | CNGB3 | c.1072G>C (p.Gly358Arg) n.892G>C c.658G>C (p.Gly220Arg) | |
| 8 | g.86643857C>T | CA371446927 | CNGB3 | c.1072G>A (p.Gly358Arg) n.892G>A c.658G>A (p.Gly220Arg) | |
| 8 | g.86643858A>C | CA461815861 | CNGB3 | c.1071T>G (p.Thr357=) n.891T>G c.657T>G (p.Thr219=) | ClinVar |
| 8 | g.86643858A>G | CA461815862 | CNGB3 | c.1071T>C (p.Thr357=) n.891T>C c.657T>C (p.Thr219=) | |
| 8 | g.86643858A>T | CA461815863 | CNGB3 | c.1071T>A (p.Thr357=) n.891T>A c.657T>A (p.Thr219=) | |
| 8 | g.86643859G>A | CA371446929 | CNGB3 | c.1070C>T (p.Thr357Ile) n.890C>T c.656C>T (p.Thr219Ile) | |
| 8 | g.86643859G>C | CA371446930 | CNGB3 | c.1070C>G (p.Thr357Ser) n.890C>G c.656C>G (p.Thr219Ser) | |
| 8 | g.86643859G= | CA1799825857 | CNGB3 | c.1070C= (p.Thr357=) n.890C= c.656C= (p.Thr219=) | |
| 8 | g.86643859G>T | CA371446928 | CNGB3 | c.1070C>A (p.Thr357Asn) n.890C>A c.656C>A (p.Thr219Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86643859_86643860delinsGT | CA1799825858 | CNGB3 | c.1069_1070delinsAC (p.Thr357=) n.889_890delinsAC c.655_656delinsAC (p.Thr219=) | |
| 8 | g.86643860T>A | CA371446933 | CNGB3 | c.1069A>T (p.Thr357Ser) n.889A>T c.655A>T (p.Thr219Ser) | |
| 8 | g.86643860T>C | CA371446931 | CNGB3 | c.1069A>G (p.Thr357Ala) n.889A>G c.655A>G (p.Thr219Ala) | COSMIC |
| 8 | g.86643860T>G | CA371446932 | CNGB3 | c.1069A>C (p.Thr357Pro) n.889A>C c.655A>C (p.Thr219Pro) | |
| 8 | g.86643861del | CA1799825862 | CNGB3 | c.1069del (p.Thr357LeufsTer?) n.889del c.655del (p.Thr219LeufsTer?) | dbSNP |
| 8 | g.86643861T>A | CA461815864 | CNGB3 | c.1068A>T (p.Thr356=) n.888A>T c.654A>T (p.Thr218=) | |
| 8 | g.86643861T>C | CA461815865 | CNGB3 | c.1068A>G (p.Thr356=) n.888A>G c.654A>G (p.Thr218=) | |
| 8 | g.86643861T>G | CA461815866 | CNGB3 | c.1068A>C (p.Thr356=) n.888A>C c.654A>C (p.Thr218=) | |
| 8 | g.86643862G>A | CA371446934 | CNGB3 | c.1067C>T (p.Thr356Ile) n.887C>T c.653C>T (p.Thr218Ile) | |
| 8 | g.86643862G>C | CA371446935 | CNGB3 | c.1067C>G (p.Thr356Arg) n.887C>G c.653C>G (p.Thr218Arg) | |
| 8 | g.86643862G>T | CA371446936 | CNGB3 | c.1067C>A (p.Thr356Lys) n.887C>A c.653C>A (p.Thr218Lys) | |
| 8 | g.86643863T>A | CA371446937 | CNGB3 | c.1066A>T (p.Thr356Ser) n.886A>T c.652A>T (p.Thr218Ser) | gnomAD v4 |
| 8 | g.86643863T>C | CA371446938 | CNGB3 | c.1066A>G (p.Thr356Ala) n.886A>G c.652A>G (p.Thr218Ala) | |
| 8 | g.86643863T>G | CA4800159 | CNGB3 | c.1066A>C (p.Thr356Pro) n.886A>C c.652A>C (p.Thr218Pro) | dbSNP ExAC gnomAD v2 |
| 8 | g.86643863T= | CA1799825864 | CNGB3 | c.1066A= (p.Thr356=) n.886A= c.652A= (p.Thr218=) | |
| 8 | g.86643864T>A | CA461815867 | CNGB3 | c.1065A>T (p.Arg355=) n.885A>T c.651A>T (p.Arg217=) | |
| 8 | g.86643864T>C | CA4800160 | CNGB3 | c.1065A>G (p.Arg355=) n.885A>G c.651A>G (p.Arg217=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86643864T>G | CA461815868 | CNGB3 | c.1065A>C (p.Arg355=) n.885A>C c.651A>C (p.Arg217=) | |
| 8 | g.86643864T= | CA1799825867 | CNGB3 | c.1065A= (p.Arg355=) n.885A= c.651A= (p.Arg217=) | |
| 8 | g.86643865C>A | CA371446939 | CNGB3 | c.1064G>T (p.Arg355Leu) n.884G>T c.650G>T (p.Arg217Leu) | gnomAD v4 |
| 8 | g.86643865C= | CA1799825872 | CNGB3 | c.1064G= (p.Arg355=) n.884G= c.650G= (p.Arg217=) | |
| 8 | g.86643865C>G | CA371446940 | CNGB3 | c.1064G>C (p.Arg355Pro) n.884G>C c.650G>C (p.Arg217Pro) | |
| 8 | g.86643865C>T | CA4800161 | CNGB3 | c.1064G>A (p.Arg355Gln) n.884G>A c.650G>A (p.Arg217Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.86643866G>A | CA4800162 | CNGB3 | c.1063C>T (p.Arg355Ter) n.883C>T c.649C>T (p.Arg217Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.86643866G>C | CA371446941 | CNGB3 | c.1063C>G (p.Arg355Gly) n.883C>G c.649C>G (p.Arg217Gly) | dbSNP |
| 8 | g.86643866G= | CA1799825876 | CNGB3 | c.1063C= (p.Arg355=) n.883C= c.649C= (p.Arg217=) | |
| 8 | g.86643866G>T | CA461815869 | CNGB3 | c.1063C>A (p.Arg355=) n.883C>A c.649C>A (p.Arg217=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86643867A= | CA1799825881 | CNGB3 | c.1062T= (p.Ile354=) n.882T= c.648T= (p.Ile216=) | |
| 8 | g.86643867A>C | CA371446942 | CNGB3 | c.1062T>G (p.Ile354Met) n.882T>G c.648T>G (p.Ile216Met) | |
| 8 | g.86643867A>G | CA180348319 | CNGB3 | c.1062T>C (p.Ile354=) n.882T>C c.648T>C (p.Ile216=) | dbSNP |
| 8 | g.86643867A>T | CA461815870 | CNGB3 | c.1062T>A (p.Ile354=) n.882T>A c.648T>A (p.Ile216=) | |
| 8 | g.86643868del | CA2687825205 | CNGB3 | c.1062del (p.Arg355GlufsTer?) n.882del c.648del (p.Arg217GlufsTer?) | gnomAD v4 |
| 8 | g.86643868A>C | CA371446943 | CNGB3 | c.1061T>G (p.Ile354Ser) n.881T>G c.647T>G (p.Ile216Ser) | |
| 8 | g.86643868A>G | CA371446944 | CNGB3 | c.1061T>C (p.Ile354Thr) n.881T>C c.647T>C (p.Ile216Thr) | |
| 8 | g.86643868A>T | CA371446945 | CNGB3 | c.1061T>A (p.Ile354Asn) n.881T>A c.647T>A (p.Ile216Asn) | |
| 8 | g.86643869T>A | CA180348324 | CNGB3 | c.1060A>T (p.Ile354Phe) n.880A>T c.646A>T (p.Ile216Phe) | dbSNP |
| 8 | g.86643869T>C | CA371446947 | CNGB3 | c.1060A>G (p.Ile354Val) n.880A>G c.646A>G (p.Ile216Val) | |
| 8 | g.86643869T>G | CA371446948 | CNGB3 | c.1060A>C (p.Ile354Leu) n.880A>C c.646A>C (p.Ile216Leu) | |
| 8 | g.86643869T= | CA1799825884 | CNGB3 | c.1060A= (p.Ile354=) n.880A= c.646A= (p.Ile216=) | |
| 8 | g.86643870A= | CA1799825889 | CNGB3 | c.1059T= (p.Val353=) n.879T= c.645T= (p.Val215=) | |
| 8 | g.86643870A>C | CA461815871 | CNGB3 | c.1059T>G (p.Val353=) n.879T>G c.645T>G (p.Val215=) | |
| 8 | g.86643870A>G | CA461815872 | CNGB3 | c.1059T>C (p.Val353=) n.879T>C c.645T>C (p.Val215=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86643870A>T | CA461815873 | CNGB3 | c.1059T>A (p.Val353=) n.879T>A c.645T>A (p.Val215=) | |
| 8 | g.86643871A>C | CA371446954 | CNGB3 | c.1058T>G (p.Val353Gly) n.878T>G c.644T>G (p.Val215Gly) | |
| 8 | g.86643871A>G | CA371446951 | CNGB3 | c.1058T>C (p.Val353Ala) n.878T>C c.644T>C (p.Val215Ala) | |
| 8 | g.86643871A>T | CA371446952 | CNGB3 | c.1058T>A (p.Val353Asp) n.878T>A c.644T>A (p.Val215Asp) | |
| 8 | g.86643872C>A | CA371446957 | CNGB3 | c.1057G>T (p.Val353Phe) n.877G>T c.643G>T (p.Val215Phe) | |
| 8 | g.86643872C>G | CA371446959 | CNGB3 | c.1057G>C (p.Val353Leu) n.877G>C c.643G>C (p.Val215Leu) | |
| 8 | g.86643872C>T | CA371446961 | CNGB3 | c.1057G>A (p.Val353Ile) n.877G>A c.643G>A (p.Val215Ile) | |
| 8 | g.86643874_86643875del | CA2687825206 | CNGB3 | c.1056_1057del n.876_877del c.642_643del | gnomAD v4 |
| 8 | g.86643873T>A | CA371446962 | CNGB3 | c.1056A>T (p.Arg352Ser) n.876A>T c.642A>T (p.Arg214Ser) | |
| 8 | g.86643873T>C | CA461815874 | CNGB3 | c.1056A>G (p.Arg352=) n.876A>G c.642A>G (p.Arg214=) | |
| 8 | g.86643873T>G | CA371446964 | CNGB3 | c.1056A>C (p.Arg352Ser) n.876A>C c.642A>C (p.Arg214Ser) | |
| 8 | g.86643874C>A | CA371446967 | CNGB3 | c.1056-1G>T (n.1056-1G>T) n.876-1G>T c.642-1G>T (n.642-1G>T) | |
| 8 | g.86643874C>G | CA371446971 | CNGB3 | c.1056-1G>C (n.1056-1G>C) n.876-1G>C c.642-1G>C (n.642-1G>C) | ClinVar dbSNP |
| 8 | g.86643874C>T | CA371446969 | CNGB3 | c.1056-1G>A (n.1056-1G>A) n.876-1G>A c.642-1G>A (n.642-1G>A) | ClinVar |
| 8 | g.86643875T>A | CA371446973 | CNGB3 | c.1056-2A>T (n.1056-2A>T) n.876-2A>T c.642-2A>T (n.642-2A>T) | gnomAD v4 |
| 8 | g.86643875T>C | CA371446975 | CNGB3 | c.1056-2A>G (n.1056-2A>G) n.876-2A>G c.642-2A>G (n.642-2A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86643875T>G | CA371446977 | CNGB3 | c.1056-2A>C (n.1056-2A>C) n.876-2A>C c.642-2A>C (n.642-2A>C) | ClinVar dbSNP |
| 8 | g.86643875T= | CA1799825895 | CNGB3 | c.1056-2A= (n.1056-2A=) n.876-2A= c.642-2A= (n.642-2A=) | |
| 8 | g.86643876G>C | CA645372467 | CNGB3 | c.1056-3C>G (n.1056-3C>G) n.876-3C>G c.642-3C>G (n.642-3C>G) | ClinVar dbSNP |
| 8 | g.86643876G= | CA1799825901 | CNGB3 | c.1056-3C= (n.1056-3C=) n.876-3C= c.642-3C= (n.642-3C=) | |
| 8 | g.86643877T>C | CA2697549984 | CNGB3 | c.1056-4A>G (n.1056-4A>G) n.876-4A>G c.642-4A>G (n.642-4A>G) | ClinVar |
| 8 | g.86643878C>G | CA2687825207 | CNGB3 | c.1056-5G>C (n.1056-5G>C) n.876-5G>C c.642-5G>C (n.642-5G>C) | gnomAD v4 |
| 8 | g.86643878C>T | CA2687825208 | CNGB3 | c.1056-5G>A (n.1056-5G>A) n.876-5G>A c.642-5G>A (n.642-5G>A) | gnomAD v4 |
| 8 | g.86643879A= | CA1799825908 | CNGB3 | c.1056-6T= (n.1056-6T=) n.876-6T= c.642-6T= (n.642-6T=) | |
| 8 | g.86643879A>G | CA582916784 | CNGB3 | c.1056-6T>C (n.1056-6T>C) n.876-6T>C c.642-6T>C (n.642-6T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86643880G>T | CA2687825209 | CNGB3 | c.1056-7C>A (n.1056-7C>A) n.876-7C>A c.642-7C>A (n.642-7C>A) | gnomAD v4 |
| 8 | g.86643883A>G | CA2687825210 | CNGB3 | c.1056-10T>C (n.1056-10T>C) n.876-10T>C c.642-10T>C (n.642-10T>C) | gnomAD v4 |
| 8 | g.86643884G>A | CA2687825211 | CNGB3 | c.1056-11C>T (n.1056-11C>T) n.876-11C>T c.642-11C>T (n.642-11C>T) | gnomAD v4 |
| 8 | g.86643884G>T | CA652507370 | CNGB3 | c.1056-11C>A (n.1056-11C>A) n.876-11C>A c.642-11C>A (n.642-11C>A) | gnomAD v4 COSMIC |
| 8 | g.86643885A= | CA1799825911 | CNGB3 | c.1056-12T= (n.1056-12T=) n.876-12T= c.642-12T= (n.642-12T=) | |
| 8 | g.86643885A>C | CA4800163 | CNGB3 | c.1056-12T>G (n.1056-12T>G) n.876-12T>G c.642-12T>G (n.642-12T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.86643886del | CA2687825212 | CNGB3 | c.1056-12del (n.1056-12del) n.876-12del c.642-12del (n.642-12del) | ClinVar gnomAD v4 |
| 8 | g.86643886A= | CA1799825913 | CNGB3 | c.1056-13T= (n.1056-13T=) n.876-13T= c.642-13T= (n.642-13T=) | |
| 8 | g.86643886A>G | CA856345028 | CNGB3 | c.1056-13T>C (n.1056-13T>C) n.876-13T>C c.642-13T>C (n.642-13T>C) | ClinVar dbSNP |
| 8 | g.86643887T>C | CA582916787 | CNGB3 | c.1056-14A>G (n.1056-14A>G) n.876-14A>G c.642-14A>G (n.642-14A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86643887T= | CA1799825915 | CNGB3 | c.1056-14A= (n.1056-14A=) n.876-14A= c.642-14A= (n.642-14A=) | |
| 8 | g.86643889G>C | CA856345035 | CNGB3 | c.1056-16C>G (n.1056-16C>G) n.876-16C>G c.642-16C>G (n.642-16C>G) | ClinVar dbSNP |
| 8 | g.86643889G= | CA1799825917 | CNGB3 | c.1056-16C= (n.1056-16C=) n.876-16C= c.642-16C= (n.642-16C=) | |
| 8 | g.86643890A= | CA1799825919 | CNGB3 | c.1056-17T= (n.1056-17T=) n.876-17T= c.642-17T= (n.642-17T=) | |
| 8 | g.86643890A>C | CA1799825920 | CNGB3 | c.1056-17T>G (n.1056-17T>G) n.876-17T>G c.642-17T>G (n.642-17T>G) | dbSNP |
| 8 | g.86643891T>C | CA2687825213 | CNGB3 | c.1056-18A>G (n.1056-18A>G) n.876-18A>G c.642-18A>G (n.642-18A>G) | gnomAD v4 |
| 8 | g.86643892G>A | CA2687825214 | CNGB3 | c.1056-19C>T (n.1056-19C>T) n.876-19C>T c.642-19C>T (n.642-19C>T) | gnomAD v4 |
| 8 | g.86643892_86643893insACT | CA2781150522 | CNGB3 | c.1056-20_1056-19insAGT (n.1056-20_1056-19insAGT) n.876-20_876-19insAGT c.642-20_642-19insAGT (n.642-20_642-19insAGT) | |
| 8 | g.86643893C>A | CA2687825215 | CNGB3 | c.1056-20G>T (n.1056-20G>T) n.876-20G>T c.642-20G>T (n.642-20G>T) | gnomAD v4 |
| 8 | g.86643896A>G | CA2579200031 | CNGB3 | c.1056-23T>C (n.1056-23T>C) n.876-23T>C c.642-23T>C (n.642-23T>C) | gnomAD v4 |
| 8 | g.86643899A>G | CA2687825216 | CNGB3 | c.1056-26T>C (n.1056-26T>C) n.876-26T>C c.642-26T>C (n.642-26T>C) | gnomAD v4 |
| 8 | g.86643901G>A | CA1799825923 | CNGB3 | c.1056-28C>T (n.1056-28C>T) n.876-28C>T c.642-28C>T (n.642-28C>T) | dbSNP |
| 8 | g.86643901G>C | CA1799825922 | CNGB3 | c.1056-28C>G (n.1056-28C>G) n.876-28C>G c.642-28C>G (n.642-28C>G) | dbSNP |
| 8 | g.86643901G= | CA1799825924 | CNGB3 | c.1056-28C= (n.1056-28C=) n.876-28C= c.642-28C= (n.642-28C=) | |
| 8 | g.86643901G>T | CA2570099088 | CNGB3 | c.1056-28C>A (n.1056-28C>A) n.876-28C>A c.642-28C>A (n.642-28C>A) | gnomAD v4 |
| 8 | g.86643904T>C | CA2687825217 | CNGB3 | c.1056-31A>G (n.1056-31A>G) n.876-31A>G c.642-31A>G (n.642-31A>G) | gnomAD v4 |
| 8 | g.86643905C>A | CA2687825218 | CNGB3 | c.1056-32G>T (n.1056-32G>T) n.876-32G>T c.642-32G>T (n.642-32G>T) | gnomAD v4 |
| 8 | g.86643905C>T | CA2687825219 | CNGB3 | c.1056-32G>A (n.1056-32G>A) n.876-32G>A c.642-32G>A (n.642-32G>A) | gnomAD v4 |
| 8 | g.86643906_86643909delinsATGT | CA1799825926 | CNGB3 | c.1056-36_1056-33delinsACAT (n.1056-36_1056-33delinsACAT) n.876-36_876-33delinsACAT c.642-36_642-33delinsACAT (n.642-36_642-33delinsACAT) | |
| 8 | g.86643907T>A | CA2687825220 | CNGB3 | c.1056-34A>T (n.1056-34A>T) n.876-34A>T c.642-34A>T (n.642-34A>T) | gnomAD v4 |
| 8 | g.86643907T>C | CA582916791 | CNGB3 | c.1056-34A>G (n.1056-34A>G) n.876-34A>G c.642-34A>G (n.642-34A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86643907T= | CA1799825928 | CNGB3 | c.1056-34A= (n.1056-34A=) n.876-34A= c.642-34A= (n.642-34A=) | |
| 8 | g.86643911_86643913del | CA582916790 | CNGB3 | c.1056-36_1056-34del (n.1056-36_1056-34del) n.876-36_876-34del c.642-36_642-34del (n.642-36_642-34del) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86643909T>C | CA2579200032 | CNGB3 | c.1056-36A>G (n.1056-36A>G) n.876-36A>G c.642-36A>G (n.642-36A>G) | |
| 8 | g.86643910del | CA2687825221 | CNGB3 | c.1056-36del (n.1056-36del) n.876-36del c.642-36del (n.642-36del) | gnomAD v4 |
| 8 | g.86643910T>C | CA582916794 | CNGB3 | c.1056-37A>G (n.1056-37A>G) n.876-37A>G c.642-37A>G (n.642-37A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86643910T= | CA1799825931 | CNGB3 | c.1056-37A= (n.1056-37A=) n.876-37A= c.642-37A= (n.642-37A=) | |
| 8 | g.86643911G>A | CA2687825222 | CNGB3 | c.1056-38C>T (n.1056-38C>T) n.876-38C>T c.642-38C>T (n.642-38C>T) | gnomAD v4 |
| 8 | g.86643911_86643917del | CA2781150523 | CNGB3 | c.1056-44_1056-38del (n.1056-44_1056-38del) n.876-44_876-38del c.642-44_642-38del (n.642-44_642-38del) | |
| 8 | g.86643913_86643914insACA | CA2781150524 | CNGB3 | c.1056-41_1056-40insTGT (n.1056-41_1056-40insTGT) n.876-41_876-40insTGT c.642-41_642-40insTGT (n.642-41_642-40insTGT) | |
| 8 | g.86643914T>G | CA2687825223 | CNGB3 | c.1056-41A>C (n.1056-41A>C) n.876-41A>C c.642-41A>C (n.642-41A>C) | gnomAD v4 |
| 8 | g.86643915C>A | CA2687825224 | CNGB3 | c.1056-42G>T (n.1056-42G>T) n.876-42G>T c.642-42G>T (n.642-42G>T) | gnomAD v4 |
| 8 | g.86643915C= | CA1799825933 | CNGB3 | c.1056-42G= (n.1056-42G=) n.876-42G= c.642-42G= (n.642-42G=) | |
| 8 | g.86643915C>G | CA582916797 | CNGB3 | c.1056-42G>C (n.1056-42G>C) n.876-42G>C c.642-42G>C (n.642-42G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86643915C>T | CA582916798 | CNGB3 | c.1056-42G>A (n.1056-42G>A) n.876-42G>A c.642-42G>A (n.642-42G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86643916T>A | CA2579200033 | CNGB3 | c.1056-43A>T (n.1056-43A>T) n.876-43A>T c.642-43A>T (n.642-43A>T) | |
| 8 | g.86643916_86643917insA | CA2781150525 | CNGB3 | c.1056-44_1056-43insT (n.1056-44_1056-43insT) n.876-44_876-43insT c.642-44_642-43insT (n.642-44_642-43insT) | |
| 8 | g.86643917del | CA2781150526 | CNGB3 | c.1056-44del (n.1056-44del) n.876-44del c.642-44del (n.642-44del) | |
| 8 | g.86643917G>T | CA2687825225 | CNGB3 | c.1056-44C>A (n.1056-44C>A) n.876-44C>A c.642-44C>A (n.642-44C>A) | gnomAD v4 |
| 8 | g.86643917_86643918del | CA2781150527 | CNGB3 | c.1056-45_1056-44del (n.1056-45_1056-44del) n.876-45_876-44del c.642-45_642-44del (n.642-45_642-44del) | |
| 8 | g.86643919A= | CA1799825934 | CNGB3 | c.1056-46T= (n.1056-46T=) n.876-46T= c.642-46T= (n.642-46T=) | |
| 8 | g.86643919A>C | CA2781150528 | CNGB3 | c.1056-46T>G (n.1056-46T>G) n.876-46T>G c.642-46T>G (n.642-46T>G) | |
| 8 | g.86643919A>T | CA1116230242 | CNGB3 | c.1056-46T>A (n.1056-46T>A) n.876-46T>A c.642-46T>A (n.642-46T>A) | dbSNP gnomAD v3 gnomAD v4 |