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 |
|---|---|---|---|---|---|
| 21 | g.43687577_43687586del | CA2654739221 | RRP1B | c.1203_1212del (p.Lys402ArgfsTer?) n.866_875del | gnomAD v4 |
| 21 | g.43687576_43687582delinsGGAAGAA | CA2391301914 | RRP1B | c.1202_1208delinsGGAAGAA (p.Arg401=) n.865_871delinsGGAAGAA | |
| 21 | g.43687590_43687592dup | CA10047998 | RRP1B | c.1216_1218dup (p.Lys406_His407insLys) n.879_881dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.43687590_43687592del | CA10047997 | RRP1B | c.1216_1218del (p.Lys406del) n.879_881del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.43687587_43687592del | CA10047996 | RRP1B | c.1213_1218del (p.Lys405_Lys406del) n.876_881del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.43687581A>C | CA410400979 | RRP1B | c.1207A>C (p.Lys403Gln) n.870A>C | |
| 21 | g.43687581A>G | CA410400981 | RRP1B | c.1207A>G (p.Lys403Glu) n.870A>G | |
| 21 | g.43687581A>T | CA410400982 | RRP1B | c.1207A>T (p.Lys403Ter) n.870A>T | |
| 21 | g.43687582A>C | CA410400985 | RRP1B | c.1208A>C (p.Lys403Thr) n.871A>C | |
| 21 | g.43687582A>G | CA410400987 | RRP1B | c.1208A>G (p.Lys403Arg) n.871A>G | |
| 21 | g.43687582A>T | CA410400988 | RRP1B | c.1208A>T (p.Lys403Met) n.871A>T | |
| 21 | g.43687583G>A | CA512464143 | RRP1B | c.1209G>A (p.Lys403=) n.872G>A | gnomAD v4 |
| 21 | g.43687583G>C | CA410400991 | RRP1B | c.1209G>C (p.Lys403Asn) n.872G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.43687583G= | CA2391301916 | RRP1B | c.1209G= (p.Lys403=) n.872G= | |
| 21 | g.43687583G>T | CA410400992 | RRP1B | c.1209G>T (p.Lys403Asn) n.872G>T | gnomAD v4 |
| 21 | g.43687584A>C | CA410400995 | RRP1B | c.1210A>C (p.Lys404Gln) n.873A>C | |
| 21 | g.43687584A>G | CA410400997 | RRP1B | c.1210A>G (p.Lys404Glu) n.873A>G | |
| 21 | g.43687584A>T | CA410400998 | RRP1B | c.1210A>T (p.Lys404Ter) n.873A>T | |
| 21 | g.43687585A>C | CA410401004 | RRP1B | c.1211A>C (p.Lys404Thr) n.874A>C | |
| 21 | g.43687585A>G | CA410401003 | RRP1B | c.1211A>G (p.Lys404Arg) n.874A>G | |
| 21 | g.43687585A>T | CA410401001 | RRP1B | c.1211A>T (p.Lys404Met) n.874A>T | |
| 21 | g.43687586G>A | CA10048000 | RRP1B | c.1212G>A (p.Lys404=) n.875G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.43687586G>C | CA410401007 | RRP1B | c.1212G>C (p.Lys404Asn) n.875G>C | gnomAD v4 |
| 21 | g.43687586G= | CA2391301917 | RRP1B | c.1212G= (p.Lys404=) n.875G= | |
| 21 | g.43687586G>T | CA410401009 | RRP1B | c.1212G>T (p.Lys404Asn) n.875G>T | |
| 21 | g.43687587A>C | CA410401012 | RRP1B | c.1213A>C (p.Lys405Gln) n.876A>C | |
| 21 | g.43687587A>G | CA410401013 | RRP1B | c.1213A>G (p.Lys405Glu) n.876A>G | gnomAD v4 |
| 21 | g.43687587A>T | CA410401015 | RRP1B | c.1213A>T (p.Lys405Ter) n.876A>T | |
| 21 | g.43687587_43687588del | CA2654739230 | RRP1B | c.1213_1214del (p.Lys405GlufsTer7) n.876_877del | gnomAD v4 |
| 21 | g.43687588A>C | CA410401017 | RRP1B | c.1214A>C (p.Lys405Thr) n.877A>C | |
| 21 | g.43687588A>G | CA410401019 | RRP1B | c.1214A>G (p.Lys405Arg) n.877A>G | |
| 21 | g.43687588A>T | CA410401021 | RRP1B | c.1214A>T (p.Lys405Met) n.877A>T | |
| 21 | g.43687589G>A | CA512464155 | RRP1B | c.1215G>A (p.Lys405=) n.878G>A | |
| 21 | g.43687589G>C | CA410401023 | RRP1B | c.1215G>C (p.Lys405Asn) n.878G>C | |
| 21 | g.43687589G= | CA2391301918 | RRP1B | c.1215G= (p.Lys405=) n.878G= | |
| 21 | g.43687589G>T | CA410401025 | RRP1B | c.1215G>T (p.Lys405Asn) n.878G>T | dbSNP gnomAD v4 |
| 21 | g.43687590A= | CA2391301919 | RRP1B | c.1216A= (p.Lys406=) n.879A= | |
| 21 | g.43687590A>C | CA10048001 | RRP1B | c.1216A>C (p.Lys406Gln) n.879A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.43687590A>G | CA410401028 | RRP1B | c.1216A>G (p.Lys406Glu) n.879A>G | |
| 21 | g.43687590A>T | CA410401030 | RRP1B | c.1216A>T (p.Lys406Ter) n.879A>T | |
| 21 | g.43687591del | CA2654739231 | RRP1B | c.1217del (p.Lys406SerfsTer?) n.880del | gnomAD v4 |
| 21 | g.43687591A>C | CA410401033 | RRP1B | c.1217A>C (p.Lys406Thr) n.880A>C | |
| 21 | g.43687591A>G | CA410401034 | RRP1B | c.1217A>G (p.Lys406Arg) n.880A>G | gnomAD v4 |
| 21 | g.43687591A>T | CA410401032 | RRP1B | c.1217A>T (p.Lys406Met) n.880A>T | |
| 21 | g.43687592G>A | CA10048002 | RRP1B | c.1218G>A (p.Lys406=) n.881G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.43687592G>C | CA410401039 | RRP1B | c.1218G>C (p.Lys406Asn) n.881G>C | gnomAD v4 |
| 21 | g.43687592G= | CA2391301920 | RRP1B | c.1218G= (p.Lys406=) n.881G= | |
| 21 | g.43687592G>T | CA410401038 | RRP1B | c.1218G>T (p.Lys406Asn) n.881G>T | |
| 21 | g.43687593C>A | CA410401042 | RRP1B | c.1219C>A (p.His407Asn) n.882C>A | dbSNP gnomAD v4 |
| 21 | g.43687593C= | CA2391301921 | RRP1B | c.1219C= (p.His407=) n.882C= | |
| 21 | g.43687593C>G | CA410401045 | RRP1B | c.1219C>G (p.His407Asp) n.882C>G | |
| 21 | g.43687593C>T | CA410401044 | RRP1B | c.1219C>T (p.His407Tyr) n.882C>T | gnomAD v4 |
| 21 | g.43687594A>C | CA410401047 | RRP1B | c.1220A>C (p.His407Pro) n.883A>C | |
| 21 | g.43687594A>G | CA410401050 | RRP1B | c.1220A>G (p.His407Arg) n.883A>G | |
| 21 | g.43687594A>T | CA410401048 | RRP1B | c.1220A>T (p.His407Leu) n.883A>T | |
| 21 | g.43687595C>A | CA410401052 | RRP1B | c.1221C>A (p.His407Gln) n.884C>A | |
| 21 | g.43687595C= | CA2391301922 | RRP1B | c.1221C= (p.His407=) n.884C= | |
| 21 | g.43687595C>G | CA410401054 | RRP1B | c.1221C>G (p.His407Gln) n.884C>G | dbSNP |
| 21 | g.43687595C>T | CA512464172 | RRP1B | c.1221C>T (p.His407=) n.884C>T | gnomAD v4 |
| 21 | g.43687596C>A | CA410401056 | RRP1B | c.1222C>A (p.His408Asn) n.885C>A | gnomAD v4 |
| 21 | g.43687596C= | CA2391301923 | RRP1B | c.1222C= (p.His408=) n.885C= | |
| 21 | g.43687596C>G | CA410401059 | RRP1B | c.1222C>G (p.His408Asp) n.885C>G | |
| 21 | g.43687596C>T | CA410401058 | RRP1B | c.1222C>T (p.His408Tyr) n.885C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.43687597A= | CA2391301924 | RRP1B | c.1223A= (p.His408=) n.886A= | |
| 21 | g.43687597A>C | CA410401062 | RRP1B | c.1223A>C (p.His408Pro) n.886A>C | dbSNP gnomAD v4 |
| 21 | g.43687597A>G | CA410401065 | RRP1B | c.1223A>G (p.His408Arg) n.886A>G | |
| 21 | g.43687597A>T | CA410401064 | RRP1B | c.1223A>T (p.His408Leu) n.886A>T | |
| 21 | g.43687598C>A | CA410401068 | RRP1B | c.1224C>A (p.His408Gln) n.887C>A | gnomAD v4 |
| 21 | g.43687598C= | CA2391301925 | RRP1B | c.1224C= (p.His408=) n.887C= | |
| 21 | g.43687598C>G | CA410401070 | RRP1B | c.1224C>G (p.His408Gln) n.887C>G | |
| 21 | g.43687598C>T | CA512464179 | RRP1B | c.1224C>T (p.His408=) n.887C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.43687599C>A | CA410401072 | RRP1B | c.1225C>A (p.Leu409Met) n.888C>A | |
| 21 | g.43687599C>G | CA410401073 | RRP1B | c.1225C>G (p.Leu409Val) n.888C>G | |
| 21 | g.43687599C>T | CA512464180 | RRP1B | c.1225C>T (p.Leu409=) n.888C>T | |
| 21 | g.43687600T>A | CA410401076 | RRP1B | c.1226T>A (p.Leu409Gln) n.889T>A | |
| 21 | g.43687600T>C | CA410401077 | RRP1B | c.1226T>C (p.Leu409Pro) n.889T>C | gnomAD v4 |
| 21 | g.43687600T>G | CA410401079 | RRP1B | c.1226T>G (p.Leu409Arg) n.889T>G | |
| 21 | g.43687601G>A | CA512464186 | RRP1B | c.1227G>A (p.Leu409=) n.890G>A | gnomAD v4 |
| 21 | g.43687601G>C | CA512464188 | RRP1B | c.1227G>C (p.Leu409=) n.890G>C | gnomAD v4 |
| 21 | g.43687601G= | CA2391301926 | RRP1B | c.1227G= (p.Leu409=) n.890G= | |
| 21 | g.43687601G>T | CA512464189 | RRP1B | c.1227G>T (p.Leu409=) n.890G>T | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.43687602C>A | CA410401081 | RRP1B | c.1228C>A (p.Gln410Lys) n.891C>A | |
| 21 | g.43687602C= | CA2391301927 | RRP1B | c.1228C= (p.Gln410=) n.891C= | |
| 21 | g.43687602C>G | CA410401083 | RRP1B | c.1228C>G (p.Gln410Glu) n.891C>G | |
| 21 | g.43687602C>T | CA410401085 | RRP1B | c.1228C>T (p.Gln410Ter) n.891C>T | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.43687603A= | CA2391301928 | RRP1B | c.1229A= (p.Gln410=) n.892A= | |
| 21 | g.43687603A>C | CA410401094 | RRP1B | c.1229A>C (p.Gln410Pro) n.892A>C | dbSNP |
| 21 | g.43687603A>G | CA410401091 | RRP1B | c.1229A>G (p.Gln410Arg) n.892A>G | gnomAD v4 |
| 21 | g.43687603A>T | CA410401089 | RRP1B | c.1229A>T (p.Gln410Leu) n.892A>T | |
| 21 | g.43687604G>A | CA512464196 | RRP1B | c.1230G>A (p.Gln410=) n.893G>A | gnomAD v4 |
| 21 | g.43687604G>C | CA410401097 | RRP1B | c.1230G>C (p.Gln410His) n.893G>C | |
| 21 | g.43687604G>T | CA410401099 | RRP1B | c.1230G>T (p.Gln410His) n.893G>T | gnomAD v4 |
| 21 | g.43687605C>A | CA410401100 | RRP1B | c.1231C>A (p.Pro411Thr) n.894C>A | gnomAD v4 |
| 21 | g.43687605C= | CA2391301929 | RRP1B | c.1231C= (p.Pro411=) n.894C= | |
| 21 | g.43687605C>G | CA410401102 | RRP1B | c.1231C>G (p.Pro411Ala) n.894C>G | |
| 21 | g.43687605C>T | CA321690034 | RRP1B | c.1231C>T (p.Pro411Ser) n.894C>T | dbSNP gnomAD v4 |
| 21 | g.43687606C>A | CA410401105 | RRP1B | c.1232C>A (p.Pro411His) n.895C>A | gnomAD v4 |
| 21 | g.43687606C>G | CA410401107 | RRP1B | c.1232C>G (p.Pro411Arg) n.895C>G | gnomAD v4 |
| 21 | g.43687606C>T | CA410401109 | RRP1B | c.1232C>T (p.Pro411Leu) n.895C>T | |
| 21 | g.43687607T>A | CA512464204 | RRP1B | c.1233T>A (p.Pro411=) n.896T>A | |
| 21 | g.43687607T>C | CA321690048 | RRP1B | c.1233T>C (p.Pro411=) n.896T>C | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.43687607T>G | CA512464207 | RRP1B | c.1233T>G (p.Pro411=) n.896T>G | |
| 21 | g.43687607T= | CA2391301930 | RRP1B | c.1233T= (p.Pro411=) n.896T= | |
| 21 | g.43687608G>A | CA10048003 | RRP1B | c.1234G>A (p.Glu412Lys) n.897G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.43687608G>C | CA410401111 | RRP1B | c.1234G>C (p.Glu412Gln) n.897G>C | gnomAD v4 |
| 21 | g.43687608G= | CA2391301931 | RRP1B | c.1234G= (p.Glu412=) n.897G= | |
| 21 | g.43687608G>T | CA410401113 | RRP1B | c.1234G>T (p.Glu412Ter) n.897G>T | gnomAD v4 |
| 21 | g.43687609A>C | CA410401117 | RRP1B | c.1235A>C (p.Glu412Ala) n.898A>C | |
| 21 | g.43687609A>G | CA410401119 | RRP1B | c.1235A>G (p.Glu412Gly) n.898A>G | |
| 21 | g.43687609A>T | CA410401115 | RRP1B | c.1235A>T (p.Glu412Val) n.898A>T | |
| 21 | g.43687612del | CA2654739232 | RRP1B | c.1238del (p.Asn413IlefsTer24) n.901del | gnomAD v4 |
| 21 | g.43687610A>C | CA410401121 | RRP1B | c.1236A>C (p.Glu412Asp) n.899A>C | |
| 21 | g.43687610A>G | CA512464214 | RRP1B | c.1236A>G (p.Glu412=) n.899A>G | |
| 21 | g.43687610A>T | CA410401122 | RRP1B | c.1236A>T (p.Glu412Asp) n.899A>T | |
| 21 | g.43687611A= | CA2391301932 | RRP1B | c.1237A= (p.Asn413=) n.900A= | |
| 21 | g.43687611A>C | CA410401125 | RRP1B | c.1237A>C (p.Asn413His) n.900A>C | |
| 21 | g.43687611A>G | CA410401127 | RRP1B | c.1237A>G (p.Asn413Asp) n.900A>G | |
| 21 | g.43687611A>T | CA10048004 | RRP1B | c.1237A>T (p.Asn413Tyr) n.900A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.43687612A>C | CA410401133 | RRP1B | c.1238A>C (p.Asn413Thr) n.901A>C | gnomAD v4 |
| 21 | g.43687612A>G | CA410401130 | RRP1B | c.1238A>G (p.Asn413Ser) n.901A>G | gnomAD v4 |
| 21 | g.43687612A>T | CA410401132 | RRP1B | c.1238A>T (p.Asn413Ile) n.901A>T | gnomAD v4 |
| 21 | g.43687613T>A | CA410401134 | RRP1B | c.1239T>A (p.Asn413Lys) n.902T>A | |
| 21 | g.43687613T>C | CA512464223 | RRP1B | c.1239T>C (p.Asn413=) n.902T>C | |
| 21 | g.43687613T>G | CA410401135 | RRP1B | c.1239T>G (p.Asn413Lys) n.902T>G | gnomAD v4 |
| 21 | g.43687613_43687619delinsTCCAGGC | CA2391301933 | RRP1B | c.1239_1245delinsTCCAGGC (p.Asn413=) n.902_908delinsTCCAGGC | |
| 21 | g.43687614C>A | CA410401136 | RRP1B | c.1240C>A (p.Pro414Thr) n.903C>A | gnomAD v4 |
| 21 | g.43687614C>G | CA410401137 | RRP1B | c.1240C>G (p.Pro414Ala) n.903C>G | |
| 21 | g.43687614C>T | CA410401138 | RRP1B | c.1240C>T (p.Pro414Ser) n.903C>T | |
| 21 | g.43687619_43687624del | CA2391301934 | RRP1B | c.1245_1250del (p.Pro416_Gly417del) n.908_913del | dbSNP gnomAD v4 |
| 21 | g.43687615C>A | CA410401139 | RRP1B | c.1241C>A (p.Pro414Gln) n.904C>A | gnomAD v4 |
| 21 | g.43687615C= | CA2391301935 | RRP1B | c.1241C= (p.Pro414=) n.904C= | |
| 21 | g.43687615C>G | CA410401141 | RRP1B | c.1241C>G (p.Pro414Arg) n.904C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.43687615C>T | CA410401140 | RRP1B | c.1241C>T (p.Pro414Leu) n.904C>T | dbSNP gnomAD v4 |
| 21 | g.43687616A= | CA2391301936 | RRP1B | c.1242A= (p.Pro414=) n.905A= | |
| 21 | g.43687616A>C | CA512464233 | RRP1B | c.1242A>C (p.Pro414=) n.905A>C | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.43687616A>G | CA512464232 | RRP1B | c.1242A>G (p.Pro414=) n.905A>G | gnomAD v4 |
| 21 | g.43687616A>T | CA512464230 | RRP1B | c.1242A>T (p.Pro414=) n.905A>T | gnomAD v4 COSMIC |
| 21 | g.43687617G>A | CA410401142 | RRP1B | c.1243G>A (p.Gly415Ser) n.906G>A | gnomAD v4 |
| 21 | g.43687617G>C | CA410401143 | RRP1B | c.1243G>C (p.Gly415Arg) n.906G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.43687617G= | CA2391301937 | RRP1B | c.1243G= (p.Gly415=) n.906G= | |
| 21 | g.43687617G>T | CA410401144 | RRP1B | c.1243G>T (p.Gly415Cys) n.906G>T | gnomAD v4 |
| 21 | g.43687618G>A | CA410401145 | RRP1B | c.1244G>A (p.Gly415Asp) n.907G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.43687618G>C | CA410401146 | RRP1B | c.1244G>C (p.Gly415Ala) n.907G>C | |
| 21 | g.43687618G= | CA2391301938 | RRP1B | c.1244G= (p.Gly415=) n.907G= | |
| 21 | g.43687618G>T | CA410401147 | RRP1B | c.1244G>T (p.Gly415Val) n.907G>T | gnomAD v4 |
| 21 | g.43687619C>A | CA512464240 | RRP1B | c.1245C>A (p.Gly415=) n.908C>A | gnomAD v4 |
| 21 | g.43687619C>G | CA512464242 | RRP1B | c.1245C>G (p.Gly415=) n.908C>G | |
| 21 | g.43687619C>T | CA512464243 | RRP1B | c.1245C>T (p.Gly415=) n.908C>T | gnomAD v4 |
| 21 | g.43687620C>A | CA410401148 | RRP1B | c.1246C>A (p.Pro416Thr) n.909C>A | gnomAD v4 |
| 21 | g.43687620C= | CA2391301939 | RRP1B | c.1246C= (p.Pro416=) n.909C= | |
| 21 | g.43687620C>G | CA410401149 | RRP1B | c.1246C>G (p.Pro416Ala) n.909C>G | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.43687620C>T | CA410401150 | RRP1B | c.1246C>T (p.Pro416Ser) n.909C>T | |
| 21 | g.43687621C>A | CA410401151 | RRP1B | c.1247C>A (p.Pro416Gln) n.910C>A | gnomAD v4 |
| 21 | g.43687621C= | CA2391301940 | RRP1B | c.1247C= (p.Pro416=) n.910C= | |
| 21 | g.43687621C>G | CA410401152 | RRP1B | c.1247C>G (p.Pro416Arg) n.910C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.43687621C>T | CA410401153 | RRP1B | c.1247C>T (p.Pro416Leu) n.910C>T | |
| 21 | g.43687622del | CA2818021483 | RRP1B | c.1248del (p.Gly418ValfsTer19) n.911del | |
| 21 | g.43687622A= | CA2391301941 | RRP1B | c.1248A= (p.Pro416=) n.911A= | |
| 21 | g.43687622A>C | CA321690067 | RRP1B | c.1248A>C (p.Pro416=) n.911A>C | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.43687622A>G | CA512464250 | RRP1B | c.1248A>G (p.Pro416=) n.911A>G | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.43687622A>T | CA512464252 | RRP1B | c.1248A>T (p.Pro416=) n.911A>T | |
| 21 | g.43687623G>A | CA410401156 | RRP1B | c.1249G>A (p.Gly417Arg) n.912G>A | gnomAD v4 |
| 21 | g.43687623G>C | CA410401155 | RRP1B | c.1249G>C (p.Gly417Arg) n.912G>C | gnomAD v4 |
| 21 | g.43687623G>T | CA410401154 | RRP1B | c.1249G>T (p.Gly417Trp) n.912G>T | gnomAD v4 |
| 21 | g.43687627del | CA2654739235 | RRP1B | c.1253del (p.Gly418ValfsTer19) n.916del | gnomAD v4 |
| 21 | g.43687624G>A | CA410401157 | RRP1B | c.1250G>A (p.Gly417Glu) n.913G>A | dbSNP gnomAD v4 |
| 21 | g.43687624G>C | CA10048005 | RRP1B | c.1250G>C (p.Gly417Ala) n.913G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.43687624G= | CA2391301942 | RRP1B | c.1250G= (p.Gly417=) n.913G= | |
| 21 | g.43687624G>T | CA410401158 | RRP1B | c.1250G>T (p.Gly417Val) n.913G>T | dbSNP gnomAD v4 |
| 21 | g.43687625G>A | CA321690083 | RRP1B | c.1251G>A (p.Gly417=) n.914G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.43687625G>C | CA512464259 | RRP1B | c.1251G>C (p.Gly417=) n.914G>C | |
| 21 | g.43687625G= | CA2391301943 | RRP1B | c.1251G= (p.Gly417=) n.914G= | |
| 21 | g.43687625G>T | CA512464260 | RRP1B | c.1251G>T (p.Gly417=) n.914G>T | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.43687626G>A | CA10048006 | RRP1B | c.1252G>A (p.Gly418Ser) n.915G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.43687626G>C | CA410401159 | RRP1B | c.1252G>C (p.Gly418Arg) n.915G>C | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.43687626G= | CA2391301944 | RRP1B | c.1252G= (p.Gly418=) n.915G= | |
| 21 | g.43687626G>T | CA410401160 | RRP1B | c.1252G>T (p.Gly418Cys) n.915G>T | gnomAD v4 |
| 21 | g.43687627G>A | CA10048007 | RRP1B | c.1253G>A (p.Gly418Asp) n.916G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.43687627G>C | CA410401161 | RRP1B | c.1253G>C (p.Gly418Ala) n.916G>C | gnomAD v4 |
| 21 | g.43687627G= | CA2391301945 | RRP1B | c.1253G= (p.Gly418=) n.916G= | |
| 21 | g.43687627G>T | CA410401162 | RRP1B | c.1253G>T (p.Gly418Val) n.916G>T | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.43687628T>A | CA512464265 | RRP1B | c.1254T>A (p.Gly418=) n.917T>A | gnomAD v4 |
| 21 | g.43687628T>C | CA10048008 | RRP1B | c.1254T>C (p.Gly418=) n.917T>C | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 21 | g.43687628T>G | CA512464267 | RRP1B | c.1254T>G (p.Gly418=) n.917T>G | |
| 21 | g.43687628T= | CA2391301946 | RRP1B | c.1254T= (p.Gly418=) n.917T= | |
| 21 | g.43687629G>A | CA410401163 | RRP1B | c.1255G>A (p.Ala419Thr) n.918G>A | gnomAD v4 |
| 21 | g.43687629G>C | CA410401164 | RRP1B | c.1255G>C (p.Ala419Pro) n.918G>C | |
| 21 | g.43687629G>T | CA410401165 | RRP1B | c.1255G>T (p.Ala419Ser) n.918G>T | gnomAD v4 |
| 21 | g.43687630C>A | CA410401166 | RRP1B | c.1256C>A (p.Ala419Glu) n.919C>A | gnomAD v4 |
| 21 | g.43687630C= | CA2391301947 | RRP1B | c.1256C= (p.Ala419=) n.919C= | |
| 21 | g.43687630C>G | CA410401167 | RRP1B | c.1256C>G (p.Ala419Gly) n.919C>G | |
| 21 | g.43687630C>T | CA410401168 | RRP1B | c.1256C>T (p.Ala419Val) n.919C>T | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.43687631A= | CA2391301948 | RRP1B | c.1257A= (p.Ala419=) n.920A= | |
| 21 | g.43687631A>C | CA512464273 | RRP1B | c.1257A>C (p.Ala419=) n.920A>C | gnomAD v4 |
| 21 | g.43687631A>G | CA10048009 | RRP1B | c.1257A>G (p.Ala419=) n.920A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.43687631A>T | CA512464274 | RRP1B | c.1257A>T (p.Ala419=) n.920A>T | |
| 21 | g.43687632G>A | CA410401169 | RRP1B | c.1258G>A (p.Ala420Thr) n.921G>A | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.43687632G>C | CA410401170 | RRP1B | c.1258G>C (p.Ala420Pro) n.921G>C | |
| 21 | g.43687632G= | CA2391301949 | RRP1B | c.1258G= (p.Ala420=) n.921G= | |
| 21 | g.43687632G>T | CA410401171 | RRP1B | c.1258G>T (p.Ala420Ser) n.921G>T | gnomAD v4 |
| 21 | g.43687633C>A | CA410401172 | RRP1B | c.1259C>A (p.Ala420Asp) n.922C>A | gnomAD v4 |
| 21 | g.43687633C>G | CA410401173 | RRP1B | c.1259C>G (p.Ala420Gly) n.922C>G | |
| 21 | g.43687633C>T | CA410401174 | RRP1B | c.1259C>T (p.Ala420Val) n.922C>T | gnomAD v4 |
| 21 | g.43687634C>A | CA512464284 | RRP1B | c.1260C>A (p.Ala420=) n.923C>A | gnomAD v4 |
| 21 | g.43687634C= | CA2391301950 | RRP1B | c.1260C= (p.Ala420=) n.923C= | |
| 21 | g.43687634C>G | CA10048010 | RRP1B | c.1260C>G (p.Ala420=) n.923C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.43687634C>T | CA512464281 | RRP1B | c.1260C>T (p.Ala420=) n.923C>T | |
| 21 | g.43687635C>A | CA410401175 | RRP1B | c.1261C>A (p.Pro421Thr) n.924C>A | gnomAD v4 |
| 21 | g.43687635C>G | CA410401176 | RRP1B | c.1261C>G (p.Pro421Ala) n.924C>G | |
| 21 | g.43687635C>T | CA410401177 | RRP1B | c.1261C>T (p.Pro421Ser) n.924C>T | gnomAD v4 |
| 21 | g.43687636C>A | CA410401178 | RRP1B | c.1262C>A (p.Pro421Gln) n.925C>A | gnomAD v4 |
| 21 | g.43687636C= | CA2391301951 | RRP1B | c.1262C= (p.Pro421=) n.925C= | |
| 21 | g.43687636C>G | CA410401179 | RRP1B | c.1262C>G (p.Pro421Arg) n.925C>G | |
| 21 | g.43687636C>T | CA10048011 | RRP1B | c.1262C>T (p.Pro421Leu) n.925C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.43687637A= | CA2391301952 | RRP1B | c.1263A= (p.Pro421=) n.926A= | |
| 21 | g.43687637A>C | CA512464290 | RRP1B | c.1263A>C (p.Pro421=) n.926A>C | |
| 21 | g.43687637A>G | CA10048012 | RRP1B | c.1263A>G (p.Pro421=) n.926A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.43687637A>T | CA512464292 | RRP1B | c.1263A>T (p.Pro421=) n.926A>T | gnomAD v4 |
| 21 | g.43687638T>A | CA410401182 | RRP1B | c.1264T>A (p.Ser422Thr) n.927T>A | |
| 21 | g.43687638T>C | CA410401180 | RRP1B | c.1264T>C (p.Ser422Pro) n.927T>C | |
| 21 | g.43687638T>G | CA410401181 | RRP1B | c.1264T>G (p.Ser422Ala) n.927T>G | |
| 21 | g.43687639C>A | CA410401183 | RRP1B | c.1265C>A (p.Ser422Tyr) n.928C>A | gnomAD v4 |
| 21 | g.43687639C>G | CA410401184 | RRP1B | c.1265C>G (p.Ser422Cys) n.928C>G | |
| 21 | g.43687639C>T | CA410401185 | RRP1B | c.1265C>T (p.Ser422Phe) n.928C>T | |
| 21 | g.43687640C>A | CA512464300 | RRP1B | c.1266C>A (p.Ser422=) n.929C>A | gnomAD v4 |
| 21 | g.43687640C= | CA2391301953 | RRP1B | c.1266C= (p.Ser422=) n.929C= | |
| 21 | g.43687640C>G | CA10048013 | RRP1B | c.1266C>G (p.Ser422=) n.929C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.43687640C>T | CA321690108 | RRP1B | c.1266C>T (p.Ser422=) n.929C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.43687641C>A | CA410401186 | RRP1B | c.1267C>A (p.Leu423Met) n.930C>A | |
| 21 | g.43687641C= | CA2391301954 | RRP1B | c.1267C= (p.Leu423=) n.930C= | |
| 21 | g.43687641C>G | CA410401187 | RRP1B | c.1267C>G (p.Leu423Val) n.930C>G | |
| 21 | g.43687641C>T | CA10048014 | RRP1B | c.1267C>T (p.Leu423=) n.930C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.43687642T>A | CA410401188 | RRP1B | c.1268T>A (p.Leu423Gln) n.931T>A | |
| 21 | g.43687642T>C | CA410401189 | RRP1B | c.1268T>C (p.Leu423Pro) n.931T>C | gnomAD v4 |
| 21 | g.43687642T>G | CA410401190 | RRP1B | c.1268T>G (p.Leu423Arg) n.931T>G | |
| 21 | g.43687643G>A | CA512464305 | RRP1B | c.1269G>A (p.Leu423=) n.932G>A | gnomAD v4 |
| 21 | g.43687643G>C | CA512464307 | RRP1B | c.1269G>C (p.Leu423=) n.932G>C | |
| 21 | g.43687643G>T | CA512464309 | RRP1B | c.1269G>T (p.Leu423=) n.932G>T | |
| 21 | g.43687644G>A | CA410401193 | RRP1B | c.1270G>A (p.Glu424Lys) n.933G>A | |
| 21 | g.43687644G>C | CA410401192 | RRP1B | c.1270G>C (p.Glu424Gln) n.933G>C | |
| 21 | g.43687644G>T | CA410401191 | RRP1B | c.1270G>T (p.Glu424Ter) n.933G>T | |
| 21 | g.43687645A>C | CA410401194 | RRP1B | c.1271A>C (p.Glu424Ala) n.934A>C | |
| 21 | g.43687645A>G | CA410401195 | RRP1B | c.1271A>G (p.Glu424Gly) n.934A>G | |
| 21 | g.43687645A>T | CA410401196 | RRP1B | c.1271A>T (p.Glu424Val) n.934A>T | |
| 21 | g.43687646A= | CA2391301955 | RRP1B | c.1272A= (p.Glu424=) n.935A= | |
| 21 | g.43687646A>C | CA410401197 | RRP1B | c.1272A>C (p.Glu424Asp) n.935A>C | |
| 21 | g.43687646A>G | CA512464316 | RRP1B | c.1272A>G (p.Glu424=) n.935A>G | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.43687646A>T | CA410401198 | RRP1B | c.1272A>T (p.Glu424Asp) n.935A>T | |
| 21 | g.43687647C>A | CA410401199 | RRP1B | c.1273C>A (p.Gln425Lys) n.936C>A | gnomAD v4 |
| 21 | g.43687647C= | CA2391301956 | RRP1B | c.1273C= (p.Gln425=) n.936C= | |
| 21 | g.43687647C>G | CA410401200 | RRP1B | c.1273C>G (p.Gln425Glu) n.936C>G | |
| 21 | g.43687647C>T | CA410401201 | RRP1B | c.1273C>T (p.Gln425Ter) n.936C>T | dbSNP |
| 21 | g.43687648A= | CA2391301957 | RRP1B | c.1274A= (p.Gln425=) n.937A= | |
| 21 | g.43687648A>C | CA410401202 | RRP1B | c.1274A>C (p.Gln425Pro) n.937A>C | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.43687648A>G | CA410401203 | RRP1B | c.1274A>G (p.Gln425Arg) n.937A>G | dbSNP |
| 21 | g.43687648A>T | CA410401204 | RRP1B | c.1274A>T (p.Gln425Leu) n.937A>T | |
| 21 | g.43687649G>A | CA512464322 | RRP1B | c.1275G>A (p.Gln425=) n.938G>A | |
| 21 | g.43687649G>C | CA410401205 | RRP1B | c.1275G>C (p.Gln425His) n.938G>C | |
| 21 | g.43687649G>T | CA410401206 | RRP1B | c.1275G>T (p.Gln425His) n.938G>T | gnomAD v4 |
| 21 | g.43687650A= | CA2391301958 | RRP1B | c.1276A= (p.Asn426=) n.939A= | |
| 21 | g.43687650A>C | CA410401207 | RRP1B | c.1276A>C (p.Asn426His) n.939A>C | |
| 21 | g.43687650A>G | CA410401208 | RRP1B | c.1276A>G (p.Asn426Asp) n.939A>G | |
| 21 | g.43687650A>T | CA321690121 | RRP1B | c.1276A>T (p.Asn426Tyr) n.939A>T | dbSNP gnomAD v2 |
| 21 | g.43687651A>C | CA410401209 | RRP1B | c.1277A>C (p.Asn426Thr) n.940A>C | |
| 21 | g.43687651A>G | CA410401211 | RRP1B | c.1277A>G (p.Asn426Ser) n.940A>G | |
| 21 | g.43687651A>T | CA410401210 | RRP1B | c.1277A>T (p.Asn426Ile) n.940A>T | |
| 21 | g.43687652C>A | CA410401212 | RRP1B | c.1278C>A (p.Asn426Lys) n.941C>A | gnomAD v4 |
| 21 | g.43687652C= | CA2391301959 | RRP1B | c.1278C= (p.Asn426=) n.941C= | |
| 21 | g.43687652C>G | CA410401213 | RRP1B | c.1278C>G (p.Asn426Lys) n.941C>G | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.43687652C>T | CA512464330 | RRP1B | c.1278C>T (p.Asn426=) n.941C>T | gnomAD v4 |
| 21 | g.43687653C>A | CA512464334 | RRP1B | c.1279C>A (p.Arg427=) n.942C>A | gnomAD v4 |
| 21 | g.43687653C= | CA2391301960 | RRP1B | c.1279C= (p.Arg427=) n.942C= | |
| 21 | g.43687653C>G | CA410401214 | RRP1B | c.1279C>G (p.Arg427Gly) n.942C>G | |
| 21 | g.43687653C>T | CA10048015 | RRP1B | c.1279C>T (p.Arg427Trp) n.942C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.43687654G>A | CA10048016 | RRP1B | c.1280G>A (p.Arg427Gln) n.943G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.43687654G>C | CA410401215 | RRP1B | c.1280G>C (p.Arg427Pro) n.943G>C | |
| 21 | g.43687654G= | CA2391301961 | RRP1B | c.1280G= (p.Arg427=) n.943G= | |
| 21 | g.43687654G>T | CA410401216 | RRP1B | c.1280G>T (p.Arg427Leu) n.943G>T | gnomAD v4 |
| 21 | g.43687654_43687673delinsGGGGCAGGGAGCCCGAGGCC | CA2391301962 | RRP1B | c.1280_1299delinsGGGGCAGGGAGCCCGAGGCC (p.Arg427=) n.943_962delinsGGGGCAGGGAGCCCGAGGCC | |
| 21 | g.43687655G>A | CA512464336 | RRP1B | c.1281G>A (p.Arg427=) n.944G>A | |
| 21 | g.43687655G>C | CA512464338 | RRP1B | c.1281G>C (p.Arg427=) n.944G>C | |
| 21 | g.43687655G>T | CA512464339 | RRP1B | c.1281G>T (p.Arg427=) n.944G>T | |
| 21 | g.43687655_43687673del | CA1022663438 | RRP1B | c.1281_1299del (p.Gly428LeufsTer3) n.944_962del | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.43687656G>A | CA410401217 | RRP1B | c.1282G>A (p.Gly428Ser) n.945G>A | gnomAD v4 |
| 21 | g.43687656G>C | CA410401218 | RRP1B | c.1282G>C (p.Gly428Arg) n.945G>C | |
| 21 | g.43687656G>T | CA410401219 | RRP1B | c.1282G>T (p.Gly428Cys) n.945G>T | gnomAD v4 |
| 21 | g.43687657G>A | CA410401220 | RRP1B | c.1283G>A (p.Gly428Asp) n.946G>A | gnomAD v4 |
| 21 | g.43687657G>C | CA410401221 | RRP1B | c.1283G>C (p.Gly428Ala) n.946G>C | |
| 21 | g.43687657G>T | CA410401222 | RRP1B | c.1283G>T (p.Gly428Val) n.946G>T | gnomAD v4 |
| 21 | g.43687658C>A | CA512464346 | RRP1B | c.1284C>A (p.Gly428=) n.947C>A | gnomAD v4 |
| 21 | g.43687658C>G | CA512464347 | RRP1B | c.1284C>G (p.Gly428=) n.947C>G | gnomAD v4 |
| 21 | g.43687658C>T | CA512464348 | RRP1B | c.1284C>T (p.Gly428=) n.947C>T | |
| 21 | g.43687659A>C | CA512464352 | RRP1B | c.1285A>C (p.Arg429=) n.948A>C | |
| 21 | g.43687659A>G | CA410401223 | RRP1B | c.1285A>G (p.Arg429Gly) n.948A>G | |
| 21 | g.43687659A>T | CA410401224 | RRP1B | c.1285A>T (p.Arg429Trp) n.948A>T | |
| 21 | g.43687659_43687676delinsAGGGAGCCCGAGGCCTCT | CA2391301963 | RRP1B | c.1285_1302delinsAGGGAGCCCGAGGCCTCT (p.Arg429=) n.948_965delinsAGGGAGCCCGAGGCCTCT | |
| 21 | g.43687660G>A | CA410401225 | RRP1B | c.1286G>A (p.Arg429Lys) n.949G>A | |
| 21 | g.43687660G>C | CA410401226 | RRP1B | c.1286G>C (p.Arg429Thr) n.949G>C | |
| 21 | g.43687660G>T | CA410401227 | RRP1B | c.1286G>T (p.Arg429Met) n.949G>T | gnomAD v4 |
| 21 | g.43687663_43687679del | CA749627914 | RRP1B | c.1289_1305del (p.Glu430AlafsTer?) n.952_968del | dbSNP |
| 21 | g.43687661G>A | CA512464356 | RRP1B | c.1287G>A (p.Arg429=) n.950G>A | |
| 21 | g.43687661G>C | CA410401228 | RRP1B | c.1287G>C (p.Arg429Ser) n.950G>C | |
| 21 | g.43687661G>T | CA410401229 | RRP1B | c.1287G>T (p.Arg429Ser) n.950G>T | gnomAD v4 |
| 21 | g.43687661_43687663delinsGGA | CA2391301964 | RRP1B | c.1287_1289delinsGGA (p.Arg429=) n.950_952delinsGGA | |
| 21 | g.43687662G>A | CA410401230 | RRP1B | c.1288G>A (p.Glu430Lys) n.951G>A | gnomAD v4 |
| 21 | g.43687662G>C | CA410401231 | RRP1B | c.1288G>C (p.Glu430Gln) n.951G>C | gnomAD v4 |
| 21 | g.43687662G>T | CA410401232 | RRP1B | c.1288G>T (p.Glu430Ter) n.951G>T | gnomAD v4 |
| 21 | g.43687663_43687664del | CA1022663444 | RRP1B | c.1289_1290del (p.Glu430AlafsTer?) n.952_953del | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.43687663A>C | CA410401233 | RRP1B | c.1289A>C (p.Glu430Ala) n.952A>C | |
| 21 | g.43687663A>G | CA410401234 | RRP1B | c.1289A>G (p.Glu430Gly) n.952A>G | |
| 21 | g.43687663A>T | CA410401235 | RRP1B | c.1289A>T (p.Glu430Val) n.952A>T | |
| 21 | g.43687664G>A | CA512464364 | RRP1B | c.1290G>A (p.Glu430=) n.953G>A | gnomAD v4 |
| 21 | g.43687664G>C | CA410401236 | RRP1B | c.1290G>C (p.Glu430Asp) n.953G>C | |
| 21 | g.43687664G>T | CA410401237 | RRP1B | c.1290G>T (p.Glu430Asp) n.953G>T | |
| 21 | g.43687665C>A | CA410401238 | RRP1B | c.1291C>A (p.Pro431Thr) n.954C>A | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.43687665C= | CA2391301965 | RRP1B | c.1291C= (p.Pro431=) n.954C= | |
| 21 | g.43687665C>G | CA410401240 | RRP1B | c.1291C>G (p.Pro431Ala) n.954C>G | dbSNP |
| 21 | g.43687665C>T | CA410401239 | RRP1B | c.1291C>T (p.Pro431Ser) n.954C>T | gnomAD v4 |
| 21 | g.43687666C>A | CA410401241 | RRP1B | c.1292C>A (p.Pro431His) n.955C>A | |
| 21 | g.43687666C>G | CA410401242 | RRP1B | c.1292C>G (p.Pro431Arg) n.955C>G | |
| 21 | g.43687666C>T | CA410401243 | RRP1B | c.1292C>T (p.Pro431Leu) n.955C>T | gnomAD v4 |
| 21 | g.43687666_43687681delinsCCGAGGCCTCTGGGCT | CA2391301966 | RRP1B | c.1292_1307delinsCCGAGGCCTCTGGGCT (p.Pro431=) n.955_970delinsCCGAGGCCTCTGGGCT | |
| 21 | g.43687667C>A | CA10048017 | RRP1B | c.1293C>A (p.Pro431=) n.956C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.43687667C= | CA2391301967 | RRP1B | c.1293C= (p.Pro431=) n.956C= | |
| 21 | g.43687667C>G | CA512464372 | RRP1B | c.1293C>G (p.Pro431=) n.956C>G | |
| 21 | g.43687667C>T | CA321690154 | RRP1B | c.1293C>T (p.Pro431=) n.956C>T | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.43687667_43687681del | CA1022663459 | RRP1B | c.1293_1307del (p.Glu432_Leu436del) n.956_970del | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.43687668G>A | CA10048018 | RRP1B | c.1294G>A (p.Glu432Lys) n.957G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.43687668G>C | CA410401244 | RRP1B | c.1294G>C (p.Glu432Gln) n.957G>C | |
| 21 | g.43687668G= | CA2391301968 | RRP1B | c.1294G= (p.Glu432=) n.957G= | |
| 21 | g.43687668G>T | CA410401245 | RRP1B | c.1294G>T (p.Glu432Ter) n.957G>T | gnomAD v4 |
| 21 | g.43687669A>C | CA410401246 | RRP1B | c.1295A>C (p.Glu432Ala) n.958A>C | |
| 21 | g.43687669A>G | CA410401247 | RRP1B | c.1295A>G (p.Glu432Gly) n.958A>G | |
| 21 | g.43687669A>T | CA410401248 | RRP1B | c.1295A>T (p.Glu432Val) n.958A>T | |
| 21 | g.43687670G>A | CA512464380 | RRP1B | c.1296G>A (p.Glu432=) n.959G>A | dbSNP |
| 21 | g.43687670G>C | CA410401249 | RRP1B | c.1296G>C (p.Glu432Asp) n.959G>C | |
| 21 | g.43687670G= | CA2391301969 | RRP1B | c.1296G= (p.Glu432=) n.959G= | |
| 21 | g.43687670G>T | CA410401250 | RRP1B | c.1296G>T (p.Glu432Asp) n.959G>T | gnomAD v4 |
| 21 | g.43687671G>A | CA410401253 | RRP1B | c.1297G>A (p.Ala433Thr) n.960G>A | |
| 21 | g.43687671G>C | CA410401252 | RRP1B | c.1297G>C (p.Ala433Pro) n.960G>C | |
| 21 | g.43687671G= | CA2391301970 | RRP1B | c.1297G= (p.Ala433=) n.960G= | |
| 21 | g.43687671G>T | CA410401251 | RRP1B | c.1297G>T (p.Ala433Ser) n.960G>T | dbSNP gnomAD v4 |
| 21 | g.43687672C>A | CA410401254 | RRP1B | c.1298C>A (p.Ala433Asp) n.961C>A | gnomAD v4 |
| 21 | g.43687672C>G | CA410401255 | RRP1B | c.1298C>G (p.Ala433Gly) n.961C>G | |
| 21 | g.43687672C>T | CA410401256 | RRP1B | c.1298C>T (p.Ala433Val) n.961C>T | |
| 21 | g.43687673C>A | CA512464386 | RRP1B | c.1299C>A (p.Ala433=) n.962C>A | |
| 21 | g.43687673C= | CA2391301971 | RRP1B | c.1299C= (p.Ala433=) n.962C= | |
| 21 | g.43687673C>G | CA512464387 | RRP1B | c.1299C>G (p.Ala433=) n.962C>G | |
| 21 | g.43687673C>T | CA512464389 | RRP1B | c.1299C>T (p.Ala433=) n.962C>T | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.43687674T>A | CA410401257 | RRP1B | c.1300T>A (p.Ser434Thr) n.963T>A | |
| 21 | g.43687674T>C | CA410401258 | RRP1B | c.1300T>C (p.Ser434Pro) n.963T>C | gnomAD v4 |
| 21 | g.43687674T>G | CA410401259 | RRP1B | c.1300T>G (p.Ser434Ala) n.963T>G | |
| 21 | g.43687675C>A | CA410401260 | RRP1B | c.1301C>A (p.Ser434Tyr) n.964C>A | |
| 21 | g.43687675C= | CA2391301972 | RRP1B | c.1301C= (p.Ser434=) n.964C= | |
| 21 | g.43687675C>G | CA410401261 | RRP1B | c.1301C>G (p.Ser434Cys) n.964C>G | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.43687675C>T | CA410401262 | RRP1B | c.1301C>T (p.Ser434Phe) n.964C>T | |
| 21 | g.43687676T>A | CA512464395 | RRP1B | c.1302T>A (p.Ser434=) n.965T>A | |
| 21 | g.43687676T>C | CA512464396 | RRP1B | c.1302T>C (p.Ser434=) n.965T>C | |
| 21 | g.43687676T>G | CA512464399 | RRP1B | c.1302T>G (p.Ser434=) n.965T>G | |
| 21 | g.43687677G>A | CA410401263 | RRP1B | c.1303G>A (p.Gly435Arg) n.966G>A | |
| 21 | g.43687677G>C | CA410401264 | RRP1B | c.1303G>C (p.Gly435Arg) n.966G>C | |
| 21 | g.43687677G>T | CA410401265 | RRP1B | c.1303G>T (p.Gly435Trp) n.966G>T | |
| 21 | g.43687679del | CA2654739277 | RRP1B | c.1305del (p.Leu436Ter) n.968del | gnomAD v4 |
| 21 | g.43687678G>A | CA410401266 | RRP1B | c.1304G>A (p.Gly435Glu) n.967G>A | |
| 21 | g.43687678G>C | CA410401268 | RRP1B | c.1304G>C (p.Gly435Ala) n.967G>C | |
| 21 | g.43687678G>T | CA410401267 | RRP1B | c.1304G>T (p.Gly435Val) n.967G>T | gnomAD v4 |
| 21 | g.43687679G>A | CA512464405 | RRP1B | c.1305G>A (p.Gly435=) n.968G>A | gnomAD v4 |
| 21 | g.43687679G>C | CA512464407 | RRP1B | c.1305G>C (p.Gly435=) n.968G>C | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.43687679G= | CA2391301973 | RRP1B | c.1305G= (p.Gly435=) n.968G= | |
| 21 | g.43687679G>T | CA512464408 | RRP1B | c.1305G>T (p.Gly435=) n.968G>T | gnomAD v4 |
| 21 | g.43687680C>A | CA410401269 | RRP1B | c.1306C>A (p.Leu436Met) n.969C>A | |
| 21 | g.43687680C= | CA2391301974 | RRP1B | c.1306C= (p.Leu436=) n.969C= | |
| 21 | g.43687680C>G | CA10048019 | RRP1B | c.1306C>G (p.Leu436Val) n.969C>G | ClinVar dbSNP ExAC gnomAD v4 |
| 21 | g.43687680C>T | CA512464411 | RRP1B | c.1306C>T (p.Leu436=) n.969C>T | |
| 21 | g.43687681T>A | CA410401270 | RRP1B | c.1307T>A (p.Leu436Gln) n.970T>A | dbSNP gnomAD v4 |
| 21 | g.43687681T>C | CA10048020 | RRP1B | c.1307T>C (p.Leu436Pro) n.970T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.43687681T>G | CA410401271 | RRP1B | c.1307T>G (p.Leu436Arg) n.970T>G | gnomAD v4 |
| 21 | g.43687681T= | CA2391301975 | RRP1B | c.1307T= (p.Leu436=) n.970T= |