Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.22992868_22992878delinsCCCTTCTCTTT | CA2289916111 | RBBP8 | c.1041_1051delinsCCCTTCTCTTT (p.Ser347=) c.219_229delinsCCCTTCTCTTT (p.Ser73=) c.747_757delinsCCCTTCTCTTT (p.Ser249=) | |
18 | g.22992869_22992878del | CA8910007 | RBBP8 | c.1042_1051del (p.Pro348TyrfsTer9) c.220_229del (p.Pro74TyrfsTer9) c.748_757del (p.Pro250TyrfsTer9) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.22992878_22992879del | CA2641247337 | RBBP8 | c.1051_1052del (p.Leu351ThrfsTer14) c.229_230del (p.Leu77ThrfsTer14) c.757_758del (p.Leu253ThrfsTer14) | gnomAD v4 |
18 | g.22992877T>A | CA503521054 | RBBP8 | c.1050T>A (p.Leu350=) c.228T>A (p.Leu76=) c.756T>A (p.Leu252=) | |
18 | g.22992877T>C | CA503521053 | RBBP8 | c.1050T>C (p.Leu350=) c.228T>C (p.Leu76=) c.756T>C (p.Leu252=) | |
18 | g.22992877T>G | CA503521052 | RBBP8 | c.1050T>G (p.Leu350=) c.228T>G (p.Leu76=) c.756T>G (p.Leu252=) | dbSNP gnomAD v4 |
18 | g.22992877T= | CA2289916117 | RBBP8 | c.1050T= (p.Leu350=) c.228T= (p.Leu76=) c.756T= (p.Leu252=) | |
18 | g.22992878T>A | CA401776179 | RBBP8 | c.1051T>A (p.Leu351Ile) c.229T>A (p.Leu77Ile) c.757T>A (p.Leu253Ile) | |
18 | g.22992878T>C | CA503521055 | RBBP8 | c.1051T>C (p.Leu351=) c.229T>C (p.Leu77=) c.757T>C (p.Leu253=) | dbSNP gnomAD v2 |
18 | g.22992878T>G | CA401776180 | RBBP8 | c.1051T>G (p.Leu351Val) c.229T>G (p.Leu77Val) c.757T>G (p.Leu253Val) | |
18 | g.22992878T= | CA2289916118 | RBBP8 | c.1051T= (p.Leu351=) c.229T= (p.Leu77=) c.757T= (p.Leu253=) | |
18 | g.22992879T>A | CA401776181 | RBBP8 | c.1052T>A (p.Leu351Ter) c.230T>A (p.Leu77Ter) c.758T>A (p.Leu253Ter) | |
18 | g.22992879T>C | CA401776182 | RBBP8 | c.1052T>C (p.Leu351Ser) c.230T>C (p.Leu77Ser) c.758T>C (p.Leu253Ser) | |
18 | g.22992879T>G | CA401776183 | RBBP8 | c.1052T>G (p.Leu351Ter) c.230T>G (p.Leu77Ter) c.758T>G (p.Leu253Ter) | |
18 | g.22992880A>C | CA401776184 | RBBP8 | c.1053A>C (p.Leu351Phe) c.231A>C (p.Leu77Phe) c.759A>C (p.Leu253Phe) | |
18 | g.22992880A>G | CA503521056 | RBBP8 | c.1053A>G (p.Leu351=) c.231A>G (p.Leu77=) c.759A>G (p.Leu253=) | |
18 | g.22992880A>T | CA401776185 | RBBP8 | c.1053A>T (p.Leu351Phe) c.231A>T (p.Leu77Phe) c.759A>T (p.Leu253Phe) | |
18 | g.22992881C>A | CA401776186 | RBBP8 | c.1054C>A (p.Gln352Lys) c.232C>A (p.Gln78Lys) c.760C>A (p.Gln254Lys) | gnomAD v3 gnomAD v4 |
18 | g.22992881C= | CA2289916120 | RBBP8 | c.1054C= (p.Gln352=) c.232C= (p.Gln78=) c.760C= (p.Gln254=) | |
18 | g.22992881C>G | CA401776188 | RBBP8 | c.1054C>G (p.Gln352Glu) c.232C>G (p.Gln78Glu) c.760C>G (p.Gln254Glu) | |
18 | g.22992881C>T | CA401776187 | RBBP8 | c.1054C>T (p.Gln352Ter) c.232C>T (p.Gln78Ter) c.760C>T (p.Gln254Ter) | dbSNP gnomAD v4 |
18 | g.22992882A= | CA2289916124 | RBBP8 | c.1055A= (p.Gln352=) c.233A= (p.Gln78=) c.761A= (p.Gln254=) | |
18 | g.22992882A>C | CA8910009 | RBBP8 | c.1055A>C (p.Gln352Pro) c.233A>C (p.Gln78Pro) c.761A>C (p.Gln254Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.22992882A>G | CA401776189 | RBBP8 | c.1055A>G (p.Gln352Arg) c.233A>G (p.Gln78Arg) c.761A>G (p.Gln254Arg) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.22992882A>T | CA401776190 | RBBP8 | c.1055A>T (p.Gln352Leu) c.233A>T (p.Gln78Leu) c.761A>T (p.Gln254Leu) | |
18 | g.22992883G>A | CA503521057 | RBBP8 | c.1056G>A (p.Gln352=) c.234G>A (p.Gln78=) c.762G>A (p.Gln254=) | |
18 | g.22992883G>C | CA401776191 | RBBP8 | c.1056G>C (p.Gln352His) c.234G>C (p.Gln78His) c.762G>C (p.Gln254His) | |
18 | g.22992883G>T | CA401776192 | RBBP8 | c.1056G>T (p.Gln352His) c.234G>T (p.Gln78His) c.762G>T (p.Gln254His) | |
18 | g.22992884C>A | CA401776193 | RBBP8 | c.1057C>A (p.Pro353Thr) c.235C>A (p.Pro79Thr) c.763C>A (p.Pro255Thr) | |
18 | g.22992884C= | CA2289916127 | RBBP8 | c.1057C= (p.Pro353=) c.235C= (p.Pro79=) c.763C= (p.Pro255=) | |
18 | g.22992884C>G | CA401776194 | RBBP8 | c.1057C>G (p.Pro353Ala) c.235C>G (p.Pro79Ala) c.763C>G (p.Pro255Ala) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.22992884C>T | CA401776195 | RBBP8 | c.1057C>T (p.Pro353Ser) c.235C>T (p.Pro79Ser) c.763C>T (p.Pro255Ser) | |
18 | g.22992885C>A | CA401776196 | RBBP8 | c.1058C>A (p.Pro353His) c.236C>A (p.Pro79His) c.764C>A (p.Pro255His) | |
18 | g.22992885C>G | CA401776197 | RBBP8 | c.1058C>G (p.Pro353Arg) c.236C>G (p.Pro79Arg) c.764C>G (p.Pro255Arg) | |
18 | g.22992885C>T | CA401776198 | RBBP8 | c.1058C>T (p.Pro353Leu) c.236C>T (p.Pro79Leu) c.764C>T (p.Pro255Leu) | |
18 | g.22992886T>A | CA503521058 | RBBP8 | c.1059T>A (p.Pro353=) c.237T>A (p.Pro79=) c.765T>A (p.Pro255=) | |
18 | g.22992886T>C | CA503521059 | RBBP8 | c.1059T>C (p.Pro353=) c.237T>C (p.Pro79=) c.765T>C (p.Pro255=) | |
18 | g.22992886T>G | CA503521060 | RBBP8 | c.1059T>G (p.Pro353=) c.237T>G (p.Pro79=) c.765T>G (p.Pro255=) | |
18 | g.22992887G>A | CA8910010 | RBBP8 | c.1060G>A (p.Gly354Arg) c.238G>A (p.Gly80Arg) c.766G>A (p.Gly256Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.22992887G>C | CA401776200 | RBBP8 | c.1060G>C (p.Gly354Arg) c.238G>C (p.Gly80Arg) c.766G>C (p.Gly256Arg) | |
18 | g.22992887G= | CA2289916131 | RBBP8 | c.1060G= (p.Gly354=) c.238G= (p.Gly80=) c.766G= (p.Gly256=) | |
18 | g.22992887G>T | CA401776199 | RBBP8 | c.1060G>T (p.Gly354Trp) c.238G>T (p.Gly80Trp) c.766G>T (p.Gly256Trp) | dbSNP gnomAD v4 |
18 | g.22992889dup | CA2641247338 | RBBP8 | c.1062dup (p.Lys355GlufsTer11) c.240dup (p.Lys81GlufsTer11) c.768dup (p.Lys257GlufsTer11) | gnomAD v4 |
18 | g.22992888G>A | CA401776202 | RBBP8 | c.1061G>A (p.Gly354Glu) c.239G>A (p.Gly80Glu) c.767G>A (p.Gly256Glu) | |
18 | g.22992888G>C | CA401776201 | RBBP8 | c.1061G>C (p.Gly354Ala) c.239G>C (p.Gly80Ala) c.767G>C (p.Gly256Ala) | dbSNP |
18 | g.22992888G= | CA2289916134 | RBBP8 | c.1061G= (p.Gly354=) c.239G= (p.Gly80=) c.767G= (p.Gly256=) | |
18 | g.22992888G>T | CA401776203 | RBBP8 | c.1061G>T (p.Gly354Val) c.239G>T (p.Gly80Val) c.767G>T (p.Gly256Val) | gnomAD v4 COSMIC COSMIC |
18 | g.22992889G>A | CA503521061 | RBBP8 | c.1062G>A (p.Gly354=) c.240G>A (p.Gly80=) c.768G>A (p.Gly256=) | COSMIC COSMIC |
18 | g.22992889G>C | CA503521062 | RBBP8 | c.1062G>C (p.Gly354=) c.240G>C (p.Gly80=) c.768G>C (p.Gly256=) | |
18 | g.22992889G>T | CA503521063 | RBBP8 | c.1062G>T (p.Gly354=) c.240G>T (p.Gly80=) c.768G>T (p.Gly256=) | |
18 | g.22992889_22992890delinsGA | CA2289916136 | RBBP8 | c.1062_1063delinsGA (p.Gly354=) c.240_241delinsGA (p.Gly80=) c.768_769delinsGA (p.Gly256=) | |
18 | g.22992890A= | CA2289916147 | RBBP8 | c.1063A= (p.Lys355=) c.241A= (p.Lys81=) c.769A= (p.Lys257=) | |
18 | g.22992890A>C | CA401776204 | RBBP8 | c.1063A>C (p.Lys355Gln) c.241A>C (p.Lys81Gln) c.769A>C (p.Lys257Gln) | |
18 | g.22992890A>G | CA8910013 | RBBP8 | c.1063A>G (p.Lys355Glu) c.241A>G (p.Lys81Glu) c.769A>G (p.Lys257Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
18 | g.22992890A>T | CA401776205 | RBBP8 | c.1063A>T (p.Lys355Ter) c.241A>T (p.Lys81Ter) c.769A>T (p.Lys257Ter) | |
18 | g.22992898dup | CA8910012 | RBBP8 | c.1071dup (p.His358ThrfsTer8) c.249dup (p.His84ThrfsTer8) c.777dup (p.His260ThrfsTer8) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
18 | g.22992897_22992898dup | CA2641247339 | RBBP8 | c.1070_1071dup (p.His358AsnfsTer3) c.248_249dup (p.His84AsnfsTer3) c.776_777dup (p.His260AsnfsTer3) | gnomAD v4 |
18 | g.22992898del | CA8910011 | RBBP8 | c.1071del (p.Lys357AsnfsTer3) c.249del (p.Lys83AsnfsTer3) c.777del (p.Lys259AsnfsTer3) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
18 | g.22992896_22992898del | CA2641247340 | RBBP8 | c.1069_1071del (p.Lys357del) c.247_249del (p.Lys83del) c.775_777del (p.Lys259del) | gnomAD v4 |
18 | g.22992891A= | CA2289916152 | RBBP8 | c.1064A= (p.Lys355=) c.242A= (p.Lys81=) c.770A= (p.Lys257=) | |
18 | g.22992891A>C | CA297050758 | RBBP8 | c.1064A>C (p.Lys355Thr) c.242A>C (p.Lys81Thr) c.770A>C (p.Lys257Thr) | dbSNP gnomAD v4 |
18 | g.22992891A>G | CA401776206 | RBBP8 | c.1064A>G (p.Lys355Arg) c.242A>G (p.Lys81Arg) c.770A>G (p.Lys257Arg) | |
18 | g.22992891A>T | CA401776207 | RBBP8 | c.1064A>T (p.Lys355Ile) c.242A>T (p.Lys81Ile) c.770A>T (p.Lys257Ile) | |
18 | g.22992892A>C | CA401776209 | RBBP8 | c.1065A>C (p.Lys355Asn) c.243A>C (p.Lys81Asn) c.771A>C (p.Lys257Asn) | |
18 | g.22992892A>G | CA503521064 | RBBP8 | c.1065A>G (p.Lys355=) c.243A>G (p.Lys81=) c.771A>G (p.Lys257=) | |
18 | g.22992892A>T | CA401776210 | RBBP8 | c.1065A>T (p.Lys355Asn) c.243A>T (p.Lys81Asn) c.771A>T (p.Lys257Asn) | |
18 | g.22992893A>C | CA401776211 | RBBP8 | c.1066A>C (p.Lys356Gln) c.244A>C (p.Lys82Gln) c.772A>C (p.Lys258Gln) | |
18 | g.22992893A>G | CA401776212 | RBBP8 | c.1066A>G (p.Lys356Glu) c.244A>G (p.Lys82Glu) c.772A>G (p.Lys258Glu) | |
18 | g.22992893A>T | CA401776213 | RBBP8 | c.1066A>T (p.Lys356Ter) c.244A>T (p.Lys82Ter) c.772A>T (p.Lys258Ter) | |
18 | g.22992894A>C | CA401776217 | RBBP8 | c.1067A>C (p.Lys356Thr) c.245A>C (p.Lys82Thr) c.773A>C (p.Lys258Thr) | |
18 | g.22992894A>G | CA401776214 | RBBP8 | c.1067A>G (p.Lys356Arg) c.245A>G (p.Lys82Arg) c.773A>G (p.Lys258Arg) | |
18 | g.22992894A>T | CA401776215 | RBBP8 | c.1067A>T (p.Lys356Ile) c.245A>T (p.Lys82Ile) c.773A>T (p.Lys258Ile) | |
18 | g.22992895A>C | CA401776218 | RBBP8 | c.1068A>C (p.Lys356Asn) c.246A>C (p.Lys82Asn) c.774A>C (p.Lys258Asn) | |
18 | g.22992895A>G | CA503521066 | RBBP8 | c.1068A>G (p.Lys356=) c.246A>G (p.Lys82=) c.774A>G (p.Lys258=) | |
18 | g.22992895A>T | CA401776220 | RBBP8 | c.1068A>T (p.Lys356Asn) c.246A>T (p.Lys82Asn) c.774A>T (p.Lys258Asn) | |
18 | g.22992896A>C | CA401776222 | RBBP8 | c.1069A>C (p.Lys357Gln) c.247A>C (p.Lys83Gln) c.775A>C (p.Lys259Gln) | |
18 | g.22992896A>G | CA401776224 | RBBP8 | c.1069A>G (p.Lys357Glu) c.247A>G (p.Lys83Glu) c.775A>G (p.Lys259Glu) | |
18 | g.22992896A>T | CA401776226 | RBBP8 | c.1069A>T (p.Lys357Ter) c.247A>T (p.Lys83Ter) c.775A>T (p.Lys259Ter) | gnomAD v4 |
18 | g.22992897A= | CA2289916155 | RBBP8 | c.1070A= (p.Lys357=) c.248A= (p.Lys83=) c.776A= (p.Lys259=) | |
18 | g.22992897A>C | CA401776228 | RBBP8 | c.1070A>C (p.Lys357Thr) c.248A>C (p.Lys83Thr) c.776A>C (p.Lys259Thr) | |
18 | g.22992897A>G | CA401776229 | RBBP8 | c.1070A>G (p.Lys357Arg) c.248A>G (p.Lys83Arg) c.776A>G (p.Lys259Arg) | dbSNP |
18 | g.22992897A>T | CA401776230 | RBBP8 | c.1070A>T (p.Lys357Ile) c.248A>T (p.Lys83Ile) c.776A>T (p.Lys259Ile) | |
18 | g.22992898A= | CA2289916159 | RBBP8 | c.1071A= (p.Lys357=) c.249A= (p.Lys83=) c.777A= (p.Lys259=) | |
18 | g.22992898A>C | CA154889 | RBBP8 | c.1071A>C (p.Lys357Asn) c.249A>C (p.Lys83Asn) c.777A>C (p.Lys259Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.22992898A>G | CA8910015 | RBBP8 | c.1071A>G (p.Lys357=) c.249A>G (p.Lys83=) c.777A>G (p.Lys259=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.22992898A>T | CA401776233 | RBBP8 | c.1071A>T (p.Lys357Asn) c.249A>T (p.Lys83Asn) c.777A>T (p.Lys259Asn) | |
18 | g.22992898_22992899delinsAC | CA2289916162 | RBBP8 | c.1071_1072delinsAC (p.Lys357=) c.249_250delinsAC (p.Lys83=) c.777_778delinsAC (p.Lys259=) | |
18 | g.22992899del | CA8910014 | RBBP8 | c.1072del (p.His358IlefsTer2) c.250del (p.His84IlefsTer2) c.778del (p.His260IlefsTer2) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.22992899C>A | CA8910016 | RBBP8 | c.1072C>A (p.His358Asn) c.250C>A (p.His84Asn) c.778C>A (p.His260Asn) | dbSNP ExAC gnomAD v2 |
18 | g.22992899C= | CA2289916165 | RBBP8 | c.1072C= (p.His358=) c.250C= (p.His84=) c.778C= (p.His260=) | |
18 | g.22992899C>G | CA401776236 | RBBP8 | c.1072C>G (p.His358Asp) c.250C>G (p.His84Asp) c.778C>G (p.His260Asp) | |
18 | g.22992899C>T | CA401776238 | RBBP8 | c.1072C>T (p.His358Tyr) c.250C>T (p.His84Tyr) c.778C>T (p.His260Tyr) | COSMIC COSMIC |
18 | g.22992900A>C | CA401776239 | RBBP8 | c.1073A>C (p.His358Pro) c.251A>C (p.His84Pro) c.779A>C (p.His260Pro) | |
18 | g.22992900A>G | CA401776241 | RBBP8 | c.1073A>G (p.His358Arg) c.251A>G (p.His84Arg) c.779A>G (p.His260Arg) | gnomAD v4 COSMIC COSMIC |
18 | g.22992900A>T | CA401776244 | RBBP8 | c.1073A>T (p.His358Leu) c.251A>T (p.His84Leu) c.779A>T (p.His260Leu) | |
18 | g.22992901T>A | CA401776245 | RBBP8 | c.1074T>A (p.His358Gln) c.252T>A (p.His84Gln) c.780T>A (p.His260Gln) | |
18 | g.22992901T>C | CA503521070 | RBBP8 | c.1074T>C (p.His358=) c.252T>C (p.His84=) c.780T>C (p.His260=) | |
18 | g.22992901T>G | CA401776247 | RBBP8 | c.1074T>G (p.His358Gln) c.252T>G (p.His84Gln) c.780T>G (p.His260Gln) | |
18 | g.22992902C>A | CA401776250 | RBBP8 | c.1075C>A (p.Leu359Met) c.253C>A (p.Leu85Met) c.781C>A (p.Leu261Met) | |
18 | g.22992902C= | CA2289916171 | RBBP8 | c.1075C= (p.Leu359=) c.253C= (p.Leu85=) c.781C= (p.Leu261=) | |
18 | g.22992902C>G | CA8910017 | RBBP8 | c.1075C>G (p.Leu359Val) c.253C>G (p.Leu85Val) c.781C>G (p.Leu261Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.22992902C>T | CA503521072 | RBBP8 | c.1075C>T (p.Leu359=) c.253C>T (p.Leu85=) c.781C>T (p.Leu261=) | |
18 | g.22992903_22992909del | CA2811798422 | RBBP8 | c.1076_1082del (p.Leu359HisfsTer12) c.254_260del (p.Leu85HisfsTer12) c.782_788del (p.Leu261HisfsTer12) | |
18 | g.22992903T>A | CA401776252 | RBBP8 | c.1076T>A (p.Leu359Gln) c.254T>A (p.Leu85Gln) c.782T>A (p.Leu261Gln) | gnomAD v4 |
18 | g.22992903T>C | CA401776254 | RBBP8 | c.1076T>C (p.Leu359Pro) c.254T>C (p.Leu85Pro) c.782T>C (p.Leu261Pro) | |
18 | g.22992903T>G | CA401776256 | RBBP8 | c.1076T>G (p.Leu359Arg) c.254T>G (p.Leu85Arg) c.782T>G (p.Leu261Arg) | |
18 | g.22992904G>A | CA503521074 | RBBP8 | c.1077G>A (p.Leu359=) c.255G>A (p.Leu85=) c.783G>A (p.Leu261=) | |
18 | g.22992904G>C | CA503521075 | RBBP8 | c.1077G>C (p.Leu359=) c.255G>C (p.Leu85=) c.783G>C (p.Leu261=) | |
18 | g.22992904G>T | CA503521076 | RBBP8 | c.1077G>T (p.Leu359=) c.255G>T (p.Leu85=) c.783G>T (p.Leu261=) | |
18 | g.22992905A>C | CA401776258 | RBBP8 | c.1078A>C (p.Lys360Gln) c.256A>C (p.Lys86Gln) c.784A>C (p.Lys262Gln) | |
18 | g.22992905A>G | CA401776259 | RBBP8 | c.1078A>G (p.Lys360Glu) c.256A>G (p.Lys86Glu) c.784A>G (p.Lys262Glu) | |
18 | g.22992905A>T | CA401776260 | RBBP8 | c.1078A>T (p.Lys360Ter) c.256A>T (p.Lys86Ter) c.784A>T (p.Lys262Ter) | |
18 | g.22992906A>C | CA401776263 | RBBP8 | c.1079A>C (p.Lys360Thr) c.257A>C (p.Lys86Thr) c.785A>C (p.Lys262Thr) | |
18 | g.22992906A>G | CA401776266 | RBBP8 | c.1079A>G (p.Lys360Arg) c.257A>G (p.Lys86Arg) c.785A>G (p.Lys262Arg) | |
18 | g.22992906A>T | CA401776264 | RBBP8 | c.1079A>T (p.Lys360Ile) c.257A>T (p.Lys86Ile) c.785A>T (p.Lys262Ile) | |
18 | g.22992907A= | CA2289916175 | RBBP8 | c.1080A= (p.Lys360=) c.258A= (p.Lys86=) c.786A= (p.Lys262=) | |
18 | g.22992907A>C | CA401776267 | RBBP8 | c.1080A>C (p.Lys360Asn) c.258A>C (p.Lys86Asn) c.786A>C (p.Lys262Asn) | |
18 | g.22992907A>G | CA503521081 | RBBP8 | c.1080A>G (p.Lys360=) c.258A>G (p.Lys86=) c.786A>G (p.Lys262=) | dbSNP |
18 | g.22992907A>T | CA401776269 | RBBP8 | c.1080A>T (p.Lys360Asn) c.258A>T (p.Lys86Asn) c.786A>T (p.Lys262Asn) | |
18 | g.22992908A>C | CA401776272 | RBBP8 | c.1081A>C (p.Thr361Pro) c.259A>C (p.Thr87Pro) c.787A>C (p.Thr263Pro) | |
18 | g.22992908A>G | CA401776274 | RBBP8 | c.1081A>G (p.Thr361Ala) c.259A>G (p.Thr87Ala) c.787A>G (p.Thr263Ala) | |
18 | g.22992908A>T | CA401776276 | RBBP8 | c.1081A>T (p.Thr361Ser) c.259A>T (p.Thr87Ser) c.787A>T (p.Thr263Ser) | |
18 | g.22992909C>A | CA401776279 | RBBP8 | c.1082C>A (p.Thr361Lys) c.260C>A (p.Thr87Lys) c.788C>A (p.Thr263Lys) | |
18 | g.22992909C= | CA2289916176 | RBBP8 | c.1082C= (p.Thr361=) c.260C= (p.Thr87=) c.788C= (p.Thr263=) | |
18 | g.22992909C>G | CA401776282 | RBBP8 | c.1082C>G (p.Thr361Arg) c.260C>G (p.Thr87Arg) c.788C>G (p.Thr263Arg) | gnomAD v4 |
18 | g.22992909C>T | CA297050776 | RBBP8 | c.1082C>T (p.Thr361Ile) c.260C>T (p.Thr87Ile) c.788C>T (p.Thr263Ile) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.22992910A>C | CA503521083 | RBBP8 | c.1083A>C (p.Thr361=) c.261A>C (p.Thr87=) c.789A>C (p.Thr263=) | gnomAD v4 |
18 | g.22992910A>G | CA503521084 | RBBP8 | c.1083A>G (p.Thr361=) c.261A>G (p.Thr87=) c.789A>G (p.Thr263=) | |
18 | g.22992910A>T | CA503521085 | RBBP8 | c.1083A>T (p.Thr361=) c.261A>T (p.Thr87=) c.789A>T (p.Thr263=) | gnomAD v4 |
18 | g.22992911C>A | CA401776285 | RBBP8 | c.1084C>A (p.Leu362Ile) c.262C>A (p.Leu88Ile) c.790C>A (p.Leu264Ile) | |
18 | g.22992911C= | CA2289916178 | RBBP8 | c.1084C= (p.Leu362=) c.262C= (p.Leu88=) c.790C= (p.Leu264=) | |
18 | g.22992911C>G | CA401776288 | RBBP8 | c.1084C>G (p.Leu362Val) c.262C>G (p.Leu88Val) c.790C>G (p.Leu264Val) | |
18 | g.22992911C>T | CA8910018 | RBBP8 | c.1084C>T (p.Leu362Phe) c.262C>T (p.Leu88Phe) c.790C>T (p.Leu264Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.22992912T>A | CA401776293 | RBBP8 | c.1085T>A (p.Leu362His) c.263T>A (p.Leu88His) c.791T>A (p.Leu264His) | COSMIC COSMIC |
18 | g.22992912T>C | CA401776295 | RBBP8 | c.1085T>C (p.Leu362Pro) c.263T>C (p.Leu88Pro) c.791T>C (p.Leu264Pro) | |
18 | g.22992912T>G | CA401776291 | RBBP8 | c.1085T>G (p.Leu362Arg) c.263T>G (p.Leu88Arg) c.791T>G (p.Leu264Arg) | |
18 | g.22992913C>A | CA503521088 | RBBP8 | c.1086C>A (p.Leu362=) c.264C>A (p.Leu88=) c.792C>A (p.Leu264=) | gnomAD v4 |
18 | g.22992913C>G | CA503521089 | RBBP8 | c.1086C>G (p.Leu362=) c.264C>G (p.Leu88=) c.792C>G (p.Leu264=) | |
18 | g.22992913C>T | CA503521091 | RBBP8 | c.1086C>T (p.Leu362=) c.264C>T (p.Leu88=) c.792C>T (p.Leu264=) | |
18 | g.22992914C>A | CA401776298 | RBBP8 | c.1087C>A (p.Pro363Thr) c.265C>A (p.Pro89Thr) c.793C>A (p.Pro265Thr) | COSMIC COSMIC |
18 | g.22992914C>G | CA401776302 | RBBP8 | c.1087C>G (p.Pro363Ala) c.265C>G (p.Pro89Ala) c.793C>G (p.Pro265Ala) | |
18 | g.22992914C>T | CA401776301 | RBBP8 | c.1087C>T (p.Pro363Ser) c.265C>T (p.Pro89Ser) c.793C>T (p.Pro265Ser) | |
18 | g.22992915C>A | CA401776305 | RBBP8 | c.1088C>A (p.Pro363His) c.266C>A (p.Pro89His) c.794C>A (p.Pro265His) | |
18 | g.22992915C>G | CA401776310 | RBBP8 | c.1088C>G (p.Pro363Arg) c.266C>G (p.Pro89Arg) c.794C>G (p.Pro265Arg) | |
18 | g.22992915C>T | CA401776308 | RBBP8 | c.1088C>T (p.Pro363Leu) c.266C>T (p.Pro89Leu) c.794C>T (p.Pro265Leu) | |
18 | g.22992916T>A | CA503521093 | RBBP8 | c.1089T>A (p.Pro363=) c.267T>A (p.Pro89=) c.795T>A (p.Pro265=) | |
18 | g.22992916T>C | CA503521094 | RBBP8 | c.1089T>C (p.Pro363=) c.267T>C (p.Pro89=) c.795T>C (p.Pro265=) | |
18 | g.22992916T>G | CA503521095 | RBBP8 | c.1089T>G (p.Pro363=) c.267T>G (p.Pro89=) c.795T>G (p.Pro265=) | dbSNP |
18 | g.22992916T= | CA2289916181 | RBBP8 | c.1089T= (p.Pro363=) c.267T= (p.Pro89=) c.795T= (p.Pro265=) | |
18 | g.22992917T>A | CA401776314 | RBBP8 | c.1090T>A (p.Phe364Ile) c.268T>A (p.Phe90Ile) c.796T>A (p.Phe266Ile) | |
18 | g.22992917T>C | CA401776318 | RBBP8 | c.1090T>C (p.Phe364Leu) c.268T>C (p.Phe90Leu) c.796T>C (p.Phe266Leu) | |
18 | g.22992917T>G | CA401776316 | RBBP8 | c.1090T>G (p.Phe364Val) c.268T>G (p.Phe90Val) c.796T>G (p.Phe266Val) | |
18 | g.22992918T>A | CA401776320 | RBBP8 | c.1091T>A (p.Phe364Tyr) c.269T>A (p.Phe90Tyr) c.797T>A (p.Phe266Tyr) | |
18 | g.22992918T>C | CA401776322 | RBBP8 | c.1091T>C (p.Phe364Ser) c.269T>C (p.Phe90Ser) c.797T>C (p.Phe266Ser) | |
18 | g.22992918T>G | CA401776324 | RBBP8 | c.1091T>G (p.Phe364Cys) c.269T>G (p.Phe90Cys) c.797T>G (p.Phe266Cys) | |
18 | g.22992919T>A | CA401776327 | RBBP8 | c.1092T>A (p.Phe364Leu) c.270T>A (p.Phe90Leu) c.798T>A (p.Phe266Leu) | |
18 | g.22992919T>C | CA297050777 | RBBP8 | c.1092T>C (p.Phe364=) c.270T>C (p.Phe90=) c.798T>C (p.Phe266=) | dbSNP gnomAD v4 |
18 | g.22992919T>G | CA401776330 | RBBP8 | c.1092T>G (p.Phe364Leu) c.270T>G (p.Phe90Leu) c.798T>G (p.Phe266Leu) | |
18 | g.22992919T= | CA2289916183 | RBBP8 | c.1092T= (p.Phe364=) c.270T= (p.Phe90=) c.798T= (p.Phe266=) | |
18 | g.22992920A= | CA2289916187 | RBBP8 | c.1093A= (p.Ser365=) c.271A= (p.Ser91=) c.799A= (p.Ser267=) | |
18 | g.22992920A>C | CA401776332 | RBBP8 | c.1093A>C (p.Ser365Arg) c.271A>C (p.Ser91Arg) c.799A>C (p.Ser267Arg) | gnomAD v4 |
18 | g.22992920A>G | CA401776335 | RBBP8 | c.1093A>G (p.Ser365Gly) c.271A>G (p.Ser91Gly) c.799A>G (p.Ser267Gly) | |
18 | g.22992920A>T | CA401776338 | RBBP8 | c.1093A>T (p.Ser365Cys) c.271A>T (p.Ser91Cys) c.799A>T (p.Ser267Cys) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.22992921G>A | CA401776345 | RBBP8 | c.1094G>A (p.Ser365Asn) c.272G>A (p.Ser91Asn) c.800G>A (p.Ser267Asn) | dbSNP |
18 | g.22992921G>C | CA401776342 | RBBP8 | c.1094G>C (p.Ser365Thr) c.272G>C (p.Ser91Thr) c.800G>C (p.Ser267Thr) | |
18 | g.22992921G>T | CA401776339 | RBBP8 | c.1094G>T (p.Ser365Ile) c.272G>T (p.Ser91Ile) c.800G>T (p.Ser267Ile) | |
18 | g.22992922C>A | CA401776348 | RBBP8 | c.1095C>A (p.Ser365Arg) c.273C>A (p.Ser91Arg) c.801C>A (p.Ser267Arg) | |
18 | g.22992922C>G | CA401776349 | RBBP8 | c.1095C>G (p.Ser365Arg) c.273C>G (p.Ser91Arg) c.801C>G (p.Ser267Arg) | |
18 | g.22992922C>T | CA503521098 | RBBP8 | c.1095C>T (p.Ser365=) c.273C>T (p.Ser91=) c.801C>T (p.Ser267=) | gnomAD v4 |
18 | g.22992923A>C | CA401776352 | RBBP8 | c.1096A>C (p.Asn366His) c.274A>C (p.Asn92His) c.802A>C (p.Asn268His) | |
18 | g.22992923A>G | CA401776354 | RBBP8 | c.1096A>G (p.Asn366Asp) c.274A>G (p.Asn92Asp) c.802A>G (p.Asn268Asp) | |
18 | g.22992923A>T | CA401776357 | RBBP8 | c.1096A>T (p.Asn366Tyr) c.274A>T (p.Asn92Tyr) c.802A>T (p.Asn268Tyr) | |
18 | g.22992924A>C | CA401776359 | RBBP8 | c.1097A>C (p.Asn366Thr) c.275A>C (p.Asn92Thr) c.803A>C (p.Asn268Thr) | |
18 | g.22992924A>G | CA401776361 | RBBP8 | c.1097A>G (p.Asn366Ser) c.275A>G (p.Asn92Ser) c.803A>G (p.Asn268Ser) | |
18 | g.22992924A>T | CA401776364 | RBBP8 | c.1097A>T (p.Asn366Ile) c.275A>T (p.Asn92Ile) c.803A>T (p.Asn268Ile) | |
18 | g.22992925C>A | CA401776366 | RBBP8 | c.1098C>A (p.Asn366Lys) c.276C>A (p.Asn92Lys) c.804C>A (p.Asn268Lys) | |
18 | g.22992925C>G | CA401776368 | RBBP8 | c.1098C>G (p.Asn366Lys) c.276C>G (p.Asn92Lys) c.804C>G (p.Asn268Lys) | |
18 | g.22992925C>T | CA503521100 | RBBP8 | c.1098C>T (p.Asn366=) c.276C>T (p.Asn92=) c.804C>T (p.Asn268=) | |
18 | g.22992926A>C | CA401776372 | RBBP8 | c.1099A>C (p.Thr367Pro) c.277A>C (p.Thr93Pro) c.805A>C (p.Thr269Pro) | |
18 | g.22992926A>G | CA401776374 | RBBP8 | c.1099A>G (p.Thr367Ala) c.277A>G (p.Thr93Ala) c.805A>G (p.Thr269Ala) | |
18 | g.22992926A>T | CA401776370 | RBBP8 | c.1099A>T (p.Thr367Ser) c.277A>T (p.Thr93Ser) c.805A>T (p.Thr269Ser) | |
18 | g.22992927C>A | CA401776376 | RBBP8 | c.1100C>A (p.Thr367Asn) c.278C>A (p.Thr93Asn) c.806C>A (p.Thr269Asn) | |
18 | g.22992927C>G | CA401776378 | RBBP8 | c.1100C>G (p.Thr367Ser) c.278C>G (p.Thr93Ser) c.806C>G (p.Thr269Ser) | |
18 | g.22992927C>T | CA401776380 | RBBP8 | c.1100C>T (p.Thr367Ile) c.278C>T (p.Thr93Ile) c.806C>T (p.Thr269Ile) | |
18 | g.22992928T>A | CA503521101 | RBBP8 | c.1101T>A (p.Thr367=) c.279T>A (p.Thr93=) c.807T>A (p.Thr269=) | |
18 | g.22992928T>C | CA503521104 | RBBP8 | c.1101T>C (p.Thr367=) c.279T>C (p.Thr93=) c.807T>C (p.Thr269=) | gnomAD v4 |
18 | g.22992928T>G | CA503521102 | RBBP8 | c.1101T>G (p.Thr367=) c.279T>G (p.Thr93=) c.807T>G (p.Thr269=) | |
18 | g.22992929T>A | CA401776383 | RBBP8 | c.1102T>A (p.Cys368Ser) c.280T>A (p.Cys94Ser) c.808T>A (p.Cys270Ser) | |
18 | g.22992929T>C | CA401776386 | RBBP8 | c.1102T>C (p.Cys368Arg) c.280T>C (p.Cys94Arg) c.808T>C (p.Cys270Arg) | |
18 | g.22992929T>G | CA401776387 | RBBP8 | c.1102T>G (p.Cys368Gly) c.280T>G (p.Cys94Gly) c.808T>G (p.Cys270Gly) | gnomAD v4 |
18 | g.22992930G>A | CA8910019 | RBBP8 | c.1103G>A (p.Cys368Tyr) c.281G>A (p.Cys94Tyr) c.809G>A (p.Cys270Tyr) | ClinVar dbSNP ExAC gnomAD v2 |
18 | g.22992930G>C | CA8910020 | RBBP8 | c.1103G>C (p.Cys368Ser) c.281G>C (p.Cys94Ser) c.809G>C (p.Cys270Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.22992930G= | CA2289916189 | RBBP8 | c.1103G= (p.Cys368=) c.281G= (p.Cys94=) c.809G= (p.Cys270=) | |
18 | g.22992930G>T | CA401776391 | RBBP8 | c.1103G>T (p.Cys368Phe) c.281G>T (p.Cys94Phe) c.809G>T (p.Cys270Phe) | |
18 | g.22992931T>A | CA401776393 | RBBP8 | c.1104T>A (p.Cys368Ter) c.282T>A (p.Cys94Ter) c.810T>A (p.Cys270Ter) | |
18 | g.22992931T>C | CA503521109 | RBBP8 | c.1104T>C (p.Cys368=) c.282T>C (p.Cys94=) c.810T>C (p.Cys270=) | |
18 | g.22992931T>G | CA401776394 | RBBP8 | c.1104T>G (p.Cys368Trp) c.282T>G (p.Cys94Trp) c.810T>G (p.Cys270Trp) | |
18 | g.22992932A>C | CA401776402 | RBBP8 | c.1105A>C (p.Ile369Leu) c.283A>C (p.Ile95Leu) c.811A>C (p.Ile271Leu) | |
18 | g.22992932A>G | CA401776399 | RBBP8 | c.1105A>G (p.Ile369Val) c.283A>G (p.Ile95Val) c.811A>G (p.Ile271Val) | gnomAD v4 |
18 | g.22992932A>T | CA401776398 | RBBP8 | c.1105A>T (p.Ile369Leu) c.283A>T (p.Ile95Leu) c.811A>T (p.Ile271Leu) | |
18 | g.22992933T>A | CA401776403 | RBBP8 | c.1106T>A (p.Ile369Lys) c.284T>A (p.Ile95Lys) c.812T>A (p.Ile271Lys) | |
18 | g.22992933T>C | CA401776405 | RBBP8 | c.1106T>C (p.Ile369Thr) c.284T>C (p.Ile95Thr) c.812T>C (p.Ile271Thr) | |
18 | g.22992933T>G | CA401776408 | RBBP8 | c.1106T>G (p.Ile369Arg) c.284T>G (p.Ile95Arg) c.812T>G (p.Ile271Arg) | |
18 | g.22992934A>C | CA503521110 | RBBP8 | c.1107A>C (p.Ile369=) c.285A>C (p.Ile95=) c.813A>C (p.Ile271=) | |
18 | g.22992934A>G | CA401776410 | RBBP8 | c.1107A>G (p.Ile369Met) c.285A>G (p.Ile95Met) c.813A>G (p.Ile271Met) | gnomAD v4 |
18 | g.22992934A>T | CA503521112 | RBBP8 | c.1107A>T (p.Ile369=) c.285A>T (p.Ile95=) c.813A>T (p.Ile271=) | |
18 | g.22992935T>A | CA401776413 | RBBP8 | c.1108T>A (p.Ser370Thr) c.286T>A (p.Ser96Thr) c.814T>A (p.Ser272Thr) | |
18 | g.22992935T>C | CA401776416 | RBBP8 | c.1108T>C (p.Ser370Pro) c.286T>C (p.Ser96Pro) c.814T>C (p.Ser272Pro) | gnomAD v4 |
18 | g.22992935T>G | CA401776418 | RBBP8 | c.1108T>G (p.Ser370Ala) c.286T>G (p.Ser96Ala) c.814T>G (p.Ser272Ala) | |
18 | g.22992936C>A | CA401776420 | RBBP8 | c.1109C>A (p.Ser370Tyr) c.287C>A (p.Ser96Tyr) c.815C>A (p.Ser272Tyr) | |
18 | g.22992936C>G | CA401776422 | RBBP8 | c.1109C>G (p.Ser370Cys) c.287C>G (p.Ser96Cys) c.815C>G (p.Ser272Cys) | |
18 | g.22992936C>T | CA401776426 | RBBP8 | c.1109C>T (p.Ser370Phe) c.287C>T (p.Ser96Phe) c.815C>T (p.Ser272Phe) | gnomAD v4 |
18 | g.22992937T>A | CA503521114 | RBBP8 | c.1110T>A (p.Ser370=) c.288T>A (p.Ser96=) c.816T>A (p.Ser272=) | |
18 | g.22992937T>C | CA503521115 | RBBP8 | c.1110T>C (p.Ser370=) c.288T>C (p.Ser96=) c.816T>C (p.Ser272=) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.22992937T>G | CA8910021 | RBBP8 | c.1110T>G (p.Ser370=) c.288T>G (p.Ser96=) c.816T>G (p.Ser272=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.22992937T= | CA2289916192 | RBBP8 | c.1110T= (p.Ser370=) c.288T= (p.Ser96=) c.816T= (p.Ser272=) | |
18 | g.22992938A>C | CA503521116 | RBBP8 | c.1111A>C (p.Arg371=) c.289A>C (p.Arg97=) c.817A>C (p.Arg273=) | COSMIC COSMIC |
18 | g.22992938A>G | CA401776428 | RBBP8 | c.1111A>G (p.Arg371Gly) c.289A>G (p.Arg97Gly) c.817A>G (p.Arg273Gly) | |
18 | g.22992938A>T | CA401776430 | RBBP8 | c.1111A>T (p.Arg371Ter) c.289A>T (p.Arg97Ter) c.817A>T (p.Arg273Ter) | |
18 | g.22992939G>A | CA401776436 | RBBP8 | c.1112G>A (p.Arg371Lys) c.290G>A (p.Arg97Lys) c.818G>A (p.Arg273Lys) | gnomAD v4 |
18 | g.22992939G>C | CA401776438 | RBBP8 | c.1112G>C (p.Arg371Thr) c.290G>C (p.Arg97Thr) c.818G>C (p.Arg273Thr) | |
18 | g.22992939G>T | CA401776434 | RBBP8 | c.1112G>T (p.Arg371Ile) c.290G>T (p.Arg97Ile) c.818G>T (p.Arg273Ile) | |
18 | g.22992939_22992940insTTTTTTCTA | CA2507003426 | RBBP8 | c.1112_1113insTTTTTTCTA (p.Arg371SerfsTer4) c.290_291insTTTTTTCTA (p.Arg97SerfsTer4) c.818_819insTTTTTTCTA (p.Arg273SerfsTer4) | |
18 | g.22992940A>C | CA401776444 | RBBP8 | c.1113A>C (p.Arg371Ser) c.291A>C (p.Arg97Ser) c.819A>C (p.Arg273Ser) | |
18 | g.22992940A>G | CA503521118 | RBBP8 | c.1113A>G (p.Arg371=) c.291A>G (p.Arg97=) c.819A>G (p.Arg273=) | |
18 | g.22992940A>T | CA401776441 | RBBP8 | c.1113A>T (p.Arg371Ser) c.291A>T (p.Arg97Ser) c.819A>T (p.Arg273Ser) | |
18 | g.22992941T>A | CA401776446 | RBBP8 | c.1114T>A (p.Leu372Ile) c.292T>A (p.Leu98Ile) c.820T>A (p.Leu274Ile) | |
18 | g.22992941T>C | CA503521119 | RBBP8 | c.1114T>C (p.Leu372=) c.292T>C (p.Leu98=) c.820T>C (p.Leu274=) | |
18 | g.22992941T>G | CA401776448 | RBBP8 | c.1114T>G (p.Leu372Val) c.292T>G (p.Leu98Val) c.820T>G (p.Leu274Val) | |
18 | g.22992941_22992942insC | CA2553633107 | RBBP8 | c.1114_1115insC (p.Leu372SerfsTer5) c.292_293insC (p.Leu98SerfsTer5) c.820_821insC (p.Leu274SerfsTer5) | |
18 | g.22992942T>A | CA401776450 | RBBP8 | c.1115T>A (p.Leu372Ter) c.293T>A (p.Leu98Ter) c.821T>A (p.Leu274Ter) | |
18 | g.22992942T>C | CA401776452 | RBBP8 | c.1115T>C (p.Leu372Ser) c.293T>C (p.Leu98Ser) c.821T>C (p.Leu274Ser) | |
18 | g.22992942T>G | CA8910022 | RBBP8 | c.1115T>G (p.Leu372Ter) c.293T>G (p.Leu98Ter) c.821T>G (p.Leu274Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.22992942T= | CA2289916198 | RBBP8 | c.1115T= (p.Leu372=) c.293T= (p.Leu98=) c.821T= (p.Leu274=) | |
18 | g.22992943A>C | CA401776456 | RBBP8 | c.1116A>C (p.Leu372Phe) c.294A>C (p.Leu98Phe) c.822A>C (p.Leu274Phe) | |
18 | g.22992943A>G | CA503521123 | RBBP8 | c.1116A>G (p.Leu372=) c.294A>G (p.Leu98=) c.822A>G (p.Leu274=) | |
18 | g.22992943A>T | CA401776457 | RBBP8 | c.1116A>T (p.Leu372Phe) c.294A>T (p.Leu98Phe) c.822A>T (p.Leu274Phe) | |
18 | g.22992944G>A | CA401776459 | RBBP8 | c.1117G>A (p.Glu373Lys) c.295G>A (p.Glu99Lys) c.823G>A (p.Glu275Lys) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.22992944G>C | CA401776461 | RBBP8 | c.1117G>C (p.Glu373Gln) c.295G>C (p.Glu99Gln) c.823G>C (p.Glu275Gln) | gnomAD v4 |
18 | g.22992944G= | CA2289916200 | RBBP8 | c.1117G= (p.Glu373=) c.295G= (p.Glu99=) c.823G= (p.Glu275=) | |
18 | g.22992944G>T | CA401776462 | RBBP8 | c.1117G>T (p.Glu373Ter) c.295G>T (p.Glu99Ter) c.823G>T (p.Glu275Ter) | |
18 | g.22992945A>C | CA401776465 | RBBP8 | c.1118A>C (p.Glu373Ala) c.296A>C (p.Glu99Ala) c.824A>C (p.Glu275Ala) | |
18 | g.22992945A>G | CA401776466 | RBBP8 | c.1118A>G (p.Glu373Gly) c.296A>G (p.Glu99Gly) c.824A>G (p.Glu275Gly) | |
18 | g.22992945A>T | CA401776469 | RBBP8 | c.1118A>T (p.Glu373Val) c.296A>T (p.Glu99Val) c.824A>T (p.Glu275Val) | |
18 | g.22992946A>C | CA401776471 | RBBP8 | c.1119A>C (p.Glu373Asp) c.297A>C (p.Glu99Asp) c.825A>C (p.Glu275Asp) | |
18 | g.22992946A>G | CA503521127 | RBBP8 | c.1119A>G (p.Glu373=) c.297A>G (p.Glu99=) c.825A>G (p.Glu275=) | |
18 | g.22992946A>T | CA401776473 | RBBP8 | c.1119A>T (p.Glu373Asp) c.297A>T (p.Glu99Asp) c.825A>T (p.Glu275Asp) | |
18 | g.22992947A>C | CA401776481 | RBBP8 | c.1120A>C (p.Lys374Gln) c.298A>C (p.Lys100Gln) c.826A>C (p.Lys276Gln) | |
18 | g.22992947A>G | CA401776483 | RBBP8 | c.1120A>G (p.Lys374Glu) c.298A>G (p.Lys100Glu) c.826A>G (p.Lys276Glu) | |
18 | g.22992947A>T | CA401776486 | RBBP8 | c.1120A>T (p.Lys374Ter) c.298A>T (p.Lys100Ter) c.826A>T (p.Lys276Ter) | |
18 | g.22992948A>C | CA401776488 | RBBP8 | c.1121A>C (p.Lys374Thr) c.299A>C (p.Lys100Thr) c.827A>C (p.Lys276Thr) | |
18 | g.22992948A>G | CA401776491 | RBBP8 | c.1121A>G (p.Lys374Arg) c.299A>G (p.Lys100Arg) c.827A>G (p.Lys276Arg) | |
18 | g.22992948A>T | CA401776494 | RBBP8 | c.1121A>T (p.Lys374Ile) c.299A>T (p.Lys100Ile) c.827A>T (p.Lys276Ile) | |
18 | g.22992949A>C | CA401776496 | RBBP8 | c.1122A>C (p.Lys374Asn) c.300A>C (p.Lys100Asn) c.828A>C (p.Lys276Asn) | |
18 | g.22992949A>G | CA503521131 | RBBP8 | c.1122A>G (p.Lys374=) c.300A>G (p.Lys100=) c.828A>G (p.Lys276=) | |
18 | g.22992949A>T | CA401776498 | RBBP8 | c.1122A>T (p.Lys374Asn) c.300A>T (p.Lys100Asn) c.828A>T (p.Lys276Asn) | |
18 | g.22992950A= | CA2289916202 | RBBP8 | c.1123A= (p.Thr375=) c.301A= (p.Thr101=) c.829A= (p.Thr277=) | |
18 | g.22992950A>C | CA401776505 | RBBP8 | c.1123A>C (p.Thr375Pro) c.301A>C (p.Thr101Pro) c.829A>C (p.Thr277Pro) | |
18 | g.22992950A>G | CA8910023 | RBBP8 | c.1123A>G (p.Thr375Ala) c.301A>G (p.Thr101Ala) c.829A>G (p.Thr277Ala) | dbSNP ExAC gnomAD v2 |
18 | g.22992950A>T | CA401776509 | RBBP8 | c.1123A>T (p.Thr375Ser) c.301A>T (p.Thr101Ser) c.829A>T (p.Thr277Ser) | |
18 | g.22992951C>A | CA401776518 | RBBP8 | c.1124C>A (p.Thr375Asn) c.302C>A (p.Thr101Asn) c.830C>A (p.Thr277Asn) | gnomAD v4 |
18 | g.22992951C>G | CA401776515 | RBBP8 | c.1124C>G (p.Thr375Ser) c.302C>G (p.Thr101Ser) c.830C>G (p.Thr277Ser) | |
18 | g.22992951C>T | CA401776512 | RBBP8 | c.1124C>T (p.Thr375Ile) c.302C>T (p.Thr101Ile) c.830C>T (p.Thr277Ile) | gnomAD v4 |
18 | g.22992952T>A | CA503521134 | RBBP8 | c.1125T>A (p.Thr375=) c.303T>A (p.Thr101=) c.831T>A (p.Thr277=) | COSMIC COSMIC |
18 | g.22992952T>C | CA503521135 | RBBP8 | c.1125T>C (p.Thr375=) c.303T>C (p.Thr101=) c.831T>C (p.Thr277=) | gnomAD v4 |
18 | g.22992952T>G | CA503521136 | RBBP8 | c.1125T>G (p.Thr375=) c.303T>G (p.Thr101=) c.831T>G (p.Thr277=) | |
18 | g.22992953A= | CA2289916204 | RBBP8 | c.1126A= (p.Arg376=) c.304A= (p.Arg102=) c.832A= (p.Arg278=) | |
18 | g.22992953A>C | CA503521137 | RBBP8 | c.1126A>C (p.Arg376=) c.304A>C (p.Arg102=) c.832A>C (p.Arg278=) | |
18 | g.22992953A>G | CA401776519 | RBBP8 | c.1126A>G (p.Arg376Gly) c.304A>G (p.Arg102Gly) c.832A>G (p.Arg278Gly) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.22992953A>T | CA401776520 | RBBP8 | c.1126A>T (p.Arg376Ter) c.304A>T (p.Arg102Ter) c.832A>T (p.Arg278Ter) | |
18 | g.22992954G>A | CA401776523 | RBBP8 | c.1127G>A (p.Arg376Lys) c.305G>A (p.Arg102Lys) c.833G>A (p.Arg278Lys) | |
18 | g.22992954G>C | CA401776524 | RBBP8 | c.1127G>C (p.Arg376Thr) c.305G>C (p.Arg102Thr) c.833G>C (p.Arg278Thr) | |
18 | g.22992954G= | CA2289916207 | RBBP8 | c.1127G= (p.Arg376=) c.305G= (p.Arg102=) c.833G= (p.Arg278=) | |
18 | g.22992954G>T | CA8910024 | RBBP8 | c.1127G>T (p.Arg376Ile) c.305G>T (p.Arg102Ile) c.833G>T (p.Arg278Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.22992955A>C | CA401776526 | RBBP8 | c.1128A>C (p.Arg376Ser) c.306A>C (p.Arg102Ser) c.834A>C (p.Arg278Ser) | |
18 | g.22992955A>G | CA503521141 | RBBP8 | c.1128A>G (p.Arg376=) c.306A>G (p.Arg102=) c.834A>G (p.Arg278=) | |
18 | g.22992955A>T | CA401776528 | RBBP8 | c.1128A>T (p.Arg376Ser) c.306A>T (p.Arg102Ser) c.834A>T (p.Arg278Ser) | |
18 | g.22992956T>A | CA401776530 | RBBP8 | c.1129T>A (p.Ser377Thr) c.307T>A (p.Ser103Thr) c.835T>A (p.Ser279Thr) | |
18 | g.22992956T>C | CA401776532 | RBBP8 | c.1129T>C (p.Ser377Pro) c.307T>C (p.Ser103Pro) c.835T>C (p.Ser279Pro) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.22992956T>G | CA401776535 | RBBP8 | c.1129T>G (p.Ser377Ala) c.307T>G (p.Ser103Ala) c.835T>G (p.Ser279Ala) | |
18 | g.22992956T= | CA2289916209 | RBBP8 | c.1129T= (p.Ser377=) c.307T= (p.Ser103=) c.835T= (p.Ser279=) | |
18 | g.22992957C>A | CA401776539 | RBBP8 | c.1130C>A (p.Ser377Ter) c.308C>A (p.Ser103Ter) c.836C>A (p.Ser279Ter) | gnomAD v4 |
18 | g.22992957C>G | CA401776540 | RBBP8 | c.1130C>G (p.Ser377Ter) c.308C>G (p.Ser103Ter) c.836C>G (p.Ser279Ter) | |
18 | g.22992957C>T | CA401776542 | RBBP8 | c.1130C>T (p.Ser377Leu) c.308C>T (p.Ser103Leu) c.836C>T (p.Ser279Leu) | |
18 | g.22992958A>C | CA503521147 | RBBP8 | c.1131A>C (p.Ser377=) c.309A>C (p.Ser103=) c.837A>C (p.Ser279=) | |
18 | g.22992958A>G | CA503521149 | RBBP8 | c.1131A>G (p.Ser377=) c.309A>G (p.Ser103=) c.837A>G (p.Ser279=) | |
18 | g.22992958A>T | CA503521151 | RBBP8 | c.1131A>T (p.Ser377=) c.309A>T (p.Ser103=) c.837A>T (p.Ser279=) | |
18 | g.22992959A>C | CA401776551 | RBBP8 | c.1132A>C (p.Lys378Gln) c.310A>C (p.Lys104Gln) c.838A>C (p.Lys280Gln) | |
18 | g.22992959A>G | CA401776548 | RBBP8 | c.1132A>G (p.Lys378Glu) c.310A>G (p.Lys104Glu) c.838A>G (p.Lys280Glu) | |
18 | g.22992959A>T | CA401776550 | RBBP8 | c.1132A>T (p.Lys378Ter) c.310A>T (p.Lys104Ter) c.838A>T (p.Lys280Ter) | |
18 | g.22992960A>C | CA401776554 | RBBP8 | c.1133A>C (p.Lys378Thr) c.311A>C (p.Lys104Thr) c.839A>C (p.Lys280Thr) | |
18 | g.22992960A>G | CA401776556 | RBBP8 | c.1133A>G (p.Lys378Arg) c.311A>G (p.Lys104Arg) c.839A>G (p.Lys280Arg) | |
18 | g.22992960A>T | CA401776559 | RBBP8 | c.1133A>T (p.Lys378Ile) c.311A>T (p.Lys104Ile) c.839A>T (p.Lys280Ile) | gnomAD v4 |
18 | g.22992961A= | CA2289916214 | RBBP8 | c.1134A= (p.Lys378=) c.312A= (p.Lys104=) c.840A= (p.Lys280=) | |
18 | g.22992961A>C | CA401776561 | RBBP8 | c.1134A>C (p.Lys378Asn) c.312A>C (p.Lys104Asn) c.840A>C (p.Lys280Asn) | |
18 | g.22992961A>G | CA8910025 | RBBP8 | c.1134A>G (p.Lys378=) c.312A>G (p.Lys104=) c.840A>G (p.Lys280=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.22992961A>T | CA401776565 | RBBP8 | c.1134A>T (p.Lys378Asn) c.312A>T (p.Lys104Asn) c.840A>T (p.Lys280Asn) | |
18 | g.22992962T>A | CA401776567 | RBBP8 | c.1135T>A (p.Ser379Thr) c.313T>A (p.Ser105Thr) c.841T>A (p.Ser281Thr) | |
18 | g.22992962T>C | CA401776570 | RBBP8 | c.1135T>C (p.Ser379Pro) c.313T>C (p.Ser105Pro) c.841T>C (p.Ser281Pro) | |
18 | g.22992962T>G | CA401776574 | RBBP8 | c.1135T>G (p.Ser379Ala) c.313T>G (p.Ser105Ala) c.841T>G (p.Ser281Ala) | |
18 | g.22992963C>A | CA401776575 | RBBP8 | c.1136C>A (p.Ser379Tyr) c.314C>A (p.Ser105Tyr) c.842C>A (p.Ser281Tyr) | |
18 | g.22992963C>G | CA401776578 | RBBP8 | c.1136C>G (p.Ser379Cys) c.314C>G (p.Ser105Cys) c.842C>G (p.Ser281Cys) | dbSNP gnomAD v4 |
18 | g.22992963C>T | CA401776580 | RBBP8 | c.1136C>T (p.Ser379Phe) c.314C>T (p.Ser105Phe) c.842C>T (p.Ser281Phe) | |
18 | g.22992964T>A | CA503521157 | RBBP8 | c.1137T>A (p.Ser379=) c.315T>A (p.Ser105=) c.843T>A (p.Ser281=) | |
18 | g.22992964T>C | CA503521158 | RBBP8 | c.1137T>C (p.Ser379=) c.315T>C (p.Ser105=) c.843T>C (p.Ser281=) | |
18 | g.22992964T>G | CA503521159 | RBBP8 | c.1137T>G (p.Ser379=) c.315T>G (p.Ser105=) c.843T>G (p.Ser281=) | |
18 | g.22992965G>A | CA401776585 | RBBP8 | c.1138G>A (p.Glu380Lys) c.316G>A (p.Glu106Lys) c.844G>A (p.Glu282Lys) | |
18 | g.22992965G>C | CA401776587 | RBBP8 | c.1138G>C (p.Glu380Gln) c.316G>C (p.Glu106Gln) c.844G>C (p.Glu282Gln) | |
18 | g.22992965G>T | CA401776582 | RBBP8 | c.1138G>T (p.Glu380Ter) c.316G>T (p.Glu106Ter) c.844G>T (p.Glu282Ter) | |
18 | g.22992966A>C | CA401776599 | RBBP8 | c.1139A>C (p.Glu380Ala) c.317A>C (p.Glu106Ala) c.845A>C (p.Glu282Ala) | |
18 | g.22992966A>G | CA401776594 | RBBP8 | c.1139A>G (p.Glu380Gly) c.317A>G (p.Glu106Gly) c.845A>G (p.Glu282Gly) | |
18 | g.22992966A>T | CA401776597 | RBBP8 | c.1139A>T (p.Glu380Val) c.317A>T (p.Glu106Val) c.845A>T (p.Glu282Val) | |
18 | g.22992967A>C | CA401776601 | RBBP8 | c.1140A>C (p.Glu380Asp) c.318A>C (p.Glu106Asp) c.846A>C (p.Glu282Asp) | |
18 | g.22992967A>G | CA503521162 | RBBP8 | c.1140A>G (p.Glu380=) c.318A>G (p.Glu106=) c.846A>G (p.Glu282=) | |
18 | g.22992967A>T | CA401776603 | RBBP8 | c.1140A>T (p.Glu380Asp) c.318A>T (p.Glu106Asp) c.846A>T (p.Glu282Asp) | |
18 | g.22992968G>A | CA401776606 | RBBP8 | c.1141G>A (p.Asp381Asn) c.319G>A (p.Asp107Asn) c.847G>A (p.Asp283Asn) | |
18 | g.22992968G>C | CA401776607 | RBBP8 | c.1141G>C (p.Asp381His) c.319G>C (p.Asp107His) c.847G>C (p.Asp283His) | |
18 | g.22992968G>T | CA401776608 | RBBP8 | c.1141G>T (p.Asp381Tyr) c.319G>T (p.Asp107Tyr) c.847G>T (p.Asp283Tyr) | |
18 | g.22992969A= | CA2289916217 | RBBP8 | c.1142A= (p.Asp381=) c.320A= (p.Asp107=) c.848A= (p.Asp283=) | |
18 | g.22992969A>C | CA401776615 | RBBP8 | c.1142A>C (p.Asp381Ala) c.320A>C (p.Asp107Ala) c.848A>C (p.Asp283Ala) | gnomAD v4 |
18 | g.22992969A>G | CA401776611 | RBBP8 | c.1142A>G (p.Asp381Gly) c.320A>G (p.Asp107Gly) c.848A>G (p.Asp283Gly) | dbSNP gnomAD v4 |
18 | g.22992969A>T | CA401776612 | RBBP8 | c.1142A>T (p.Asp381Val) c.320A>T (p.Asp107Val) c.848A>T (p.Asp283Val) | gnomAD v4 |
18 | g.22992970T>A | CA401776617 | RBBP8 | c.1143T>A (p.Asp381Glu) c.321T>A (p.Asp107Glu) c.849T>A (p.Asp283Glu) | |
18 | g.22992970T>C | CA503521166 | RBBP8 | c.1143T>C (p.Asp381=) c.321T>C (p.Asp107=) c.849T>C (p.Asp283=) | |
18 | g.22992970T>G | CA401776619 | RBBP8 | c.1143T>G (p.Asp381Glu) c.321T>G (p.Asp107Glu) c.849T>G (p.Asp283Glu) | |
18 | g.22992971A>C | CA401776622 | RBBP8 | c.1144A>C (p.Ser382Arg) c.322A>C (p.Ser108Arg) c.850A>C (p.Ser284Arg) | |
18 | g.22992971A>G | CA401776625 | RBBP8 | c.1144A>G (p.Ser382Gly) c.322A>G (p.Ser108Gly) c.850A>G (p.Ser284Gly) | gnomAD v4 |
18 | g.22992971A>T | CA401776627 | RBBP8 | c.1144A>T (p.Ser382Cys) c.322A>T (p.Ser108Cys) c.850A>T (p.Ser284Cys) | |
18 | g.22992972G>A | CA401776630 | RBBP8 | c.1145G>A (p.Ser382Asn) c.323G>A (p.Ser108Asn) c.851G>A (p.Ser284Asn) | |
18 | g.22992972G>C | CA401776635 | RBBP8 | c.1145G>C (p.Ser382Thr) c.323G>C (p.Ser108Thr) c.851G>C (p.Ser284Thr) | |
18 | g.22992972G>T | CA401776633 | RBBP8 | c.1145G>T (p.Ser382Ile) c.323G>T (p.Ser108Ile) c.851G>T (p.Ser284Ile) | |
18 | g.22992973T>A | CA401776636 | RBBP8 | c.1146T>A (p.Ser382Arg) c.324T>A (p.Ser108Arg) c.852T>A (p.Ser284Arg) | |
18 | g.22992973T>C | CA503521172 | RBBP8 | c.1146T>C (p.Ser382=) c.324T>C (p.Ser108=) c.852T>C (p.Ser284=) | |
18 | g.22992973T>G | CA401776638 | RBBP8 | c.1146T>G (p.Ser382Arg) c.324T>G (p.Ser108Arg) c.852T>G (p.Ser284Arg) | |
18 | g.22992974G>A | CA8910026 | RBBP8 | c.1147G>A (p.Ala383Thr) c.325G>A (p.Ala109Thr) c.853G>A (p.Ala285Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.22992974G>C | CA401776641 | RBBP8 | c.1147G>C (p.Ala383Pro) c.325G>C (p.Ala109Pro) c.853G>C (p.Ala285Pro) | |
18 | g.22992974G= | CA2289916219 | RBBP8 | c.1147G= (p.Ala383=) c.325G= (p.Ala109=) c.853G= (p.Ala285=) | |
18 | g.22992974G>T | CA401776644 | RBBP8 | c.1147G>T (p.Ala383Ser) c.325G>T (p.Ala109Ser) c.853G>T (p.Ala285Ser) | gnomAD v4 COSMIC COSMIC |
18 | g.22992975C>A | CA401776647 | RBBP8 | c.1148C>A (p.Ala383Asp) c.326C>A (p.Ala109Asp) c.854C>A (p.Ala285Asp) | |
18 | g.22992975C>G | CA401776650 | RBBP8 | c.1148C>G (p.Ala383Gly) c.326C>G (p.Ala109Gly) c.854C>G (p.Ala285Gly) | gnomAD v4 |
18 | g.22992975C>T | CA401776651 | RBBP8 | c.1148C>T (p.Ala383Val) c.326C>T (p.Ala109Val) c.854C>T (p.Ala285Val) | gnomAD v4 |
18 | g.22992976C>A | CA503521180 | RBBP8 | c.1149C>A (p.Ala383=) c.327C>A (p.Ala109=) c.855C>A (p.Ala285=) | |
18 | g.22992976C= | CA2289916223 | RBBP8 | c.1149C= (p.Ala383=) c.327C= (p.Ala109=) c.855C= (p.Ala285=) | |
18 | g.22992976C>G | CA503521182 | RBBP8 | c.1149C>G (p.Ala383=) c.327C>G (p.Ala109=) c.855C>G (p.Ala285=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.22992976C>T | CA503521184 | RBBP8 | c.1149C>T (p.Ala383=) c.327C>T (p.Ala109=) c.855C>T (p.Ala285=) | |
18 | g.22992977C>A | CA401776653 | RBBP8 | c.1150C>A (p.Leu384Ile) c.328C>A (p.Leu110Ile) c.856C>A (p.Leu286Ile) | |
18 | g.22992977C>G | CA401776655 | RBBP8 | c.1150C>G (p.Leu384Val) c.328C>G (p.Leu110Val) c.856C>G (p.Leu286Val) | |
18 | g.22992977C>T | CA401776658 | RBBP8 | c.1150C>T (p.Leu384Phe) c.328C>T (p.Leu110Phe) c.856C>T (p.Leu286Phe) |