Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.21002944del | CA2493473201 | APOB | c.12479del (p.Gly4160AlafsTer25) c.5870-3670del (n.5870-3670del) | dbSNP |
2 | g.21002944C>A | CA345971157 | APOB | c.12478G>T (p.Gly4160Cys) c.5870-3671G>T (n.5870-3671G>T) | |
2 | g.21002944C= | CA2493473203 | APOB | c.12478G= (p.Gly4160=) c.5870-3671G= (n.5870-3671G=) | |
2 | g.21002944C>G | CA345971158 | APOB | c.12478G>C (p.Gly4160Arg) c.5870-3671G>C (n.5870-3671G>C) | dbSNP |
2 | g.21002944C>T | CA345971159 | APOB | c.12478G>A (p.Gly4160Ser) c.5870-3671G>A (n.5870-3671G>A) | gnomAD v4 |
2 | g.21002945T>A | CA345971160 | APOB | c.12477A>T (p.Glu4159Asp) c.5870-3672A>T (n.5870-3672A>T) | |
2 | g.21002945T>C | CA425342260 | APOB | c.12477A>G (p.Glu4159=) c.5870-3672A>G (n.5870-3672A>G) | |
2 | g.21002945T>G | CA345971161 | APOB | c.12477A>C (p.Glu4159Asp) c.5870-3672A>C (n.5870-3672A>C) | |
2 | g.21002946T>A | CA345971162 | APOB | c.12476A>T (p.Glu4159Val) c.5870-3673A>T (n.5870-3673A>T) | |
2 | g.21002946T>C | CA345971163 | APOB | c.12476A>G (p.Glu4159Gly) c.5870-3673A>G (n.5870-3673A>G) | |
2 | g.21002946T>G | CA345971164 | APOB | c.12476A>C (p.Glu4159Ala) c.5870-3673A>C (n.5870-3673A>C) | |
2 | g.21002947C>A | CA43488923 | APOB | c.12475G>T (p.Glu4159Ter) c.5870-3674G>T (n.5870-3674G>T) | dbSNP |
2 | g.21002947C= | CA2493473204 | APOB | c.12475G= (p.Glu4159=) c.5870-3674G= (n.5870-3674G=) | |
2 | g.21002947C>G | CA345971166 | APOB | c.12475G>C (p.Glu4159Gln) c.5870-3674G>C (n.5870-3674G>C) | |
2 | g.21002947C>T | CA345971165 | APOB | c.12475G>A (p.Glu4159Lys) c.5870-3674G>A (n.5870-3674G>A) | COSMIC |
2 | g.21002948C>A | CA345971167 | APOB | c.12474G>T (p.Gln4158His) c.5870-3675G>T (n.5870-3675G>T) | |
2 | g.21002948C>G | CA345971168 | APOB | c.12474G>C (p.Gln4158His) c.5870-3675G>C (n.5870-3675G>C) | |
2 | g.21002948C>T | CA425342261 | APOB | c.12474G>A (p.Gln4158=) c.5870-3675G>A (n.5870-3675G>A) | |
2 | g.21002949T>A | CA345971169 | APOB | c.12473A>T (p.Gln4158Leu) c.5870-3676A>T (n.5870-3676A>T) | |
2 | g.21002949T>C | CA345971170 | APOB | c.12473A>G (p.Gln4158Arg) c.5870-3676A>G (n.5870-3676A>G) | |
2 | g.21002949T>G | CA345971171 | APOB | c.12473A>C (p.Gln4158Pro) c.5870-3676A>C (n.5870-3676A>C) | |
2 | g.21002950G>A | CA345971172 | APOB | c.12472C>T (p.Gln4158Ter) c.5870-3677C>T (n.5870-3677C>T) | gnomAD v4 |
2 | g.21002950G>C | CA345971173 | APOB | c.12472C>G (p.Gln4158Glu) c.5870-3677C>G (n.5870-3677C>G) | gnomAD v4 |
2 | g.21002950G>T | CA345971174 | APOB | c.12472C>A (p.Gln4158Lys) c.5870-3677C>A (n.5870-3677C>A) | |
2 | g.21002951A>C | CA425342264 | APOB | c.12471T>G (p.Thr4157=) c.5870-3678T>G (n.5870-3678T>G) | |
2 | g.21002951A>G | CA425342265 | APOB | c.12471T>C (p.Thr4157=) c.5870-3678T>C (n.5870-3678T>C) | gnomAD v4 |
2 | g.21002951A>T | CA425342266 | APOB | c.12471T>A (p.Thr4157=) c.5870-3678T>A (n.5870-3678T>A) | |
2 | g.21002952G>A | CA345971175 | APOB | c.12470C>T (p.Thr4157Ile) c.5870-3679C>T (n.5870-3679C>T) | |
2 | g.21002952G>C | CA345971176 | APOB | c.12470C>G (p.Thr4157Ser) c.5870-3679C>G (n.5870-3679C>G) | |
2 | g.21002952G>T | CA345971177 | APOB | c.12470C>A (p.Thr4157Asn) c.5870-3679C>A (n.5870-3679C>A) | |
2 | g.21002953T>A | CA345971178 | APOB | c.12469A>T (p.Thr4157Ser) c.5870-3680A>T (n.5870-3680A>T) | |
2 | g.21002953T>C | CA345971179 | APOB | c.12469A>G (p.Thr4157Ala) c.5870-3680A>G (n.5870-3680A>G) | |
2 | g.21002953T>G | CA345971180 | APOB | c.12469A>C (p.Thr4157Pro) c.5870-3680A>C (n.5870-3680A>C) | |
2 | g.21002954C>A | CA345971181 | APOB | c.12468G>T (p.Leu4156Phe) c.5870-3681G>T (n.5870-3681G>T) | gnomAD v4 |
2 | g.21002954C>G | CA345971182 | APOB | c.12468G>C (p.Leu4156Phe) c.5870-3681G>C (n.5870-3681G>C) | COSMIC |
2 | g.21002954C>T | CA425342271 | APOB | c.12468G>A (p.Leu4156=) c.5870-3681G>A (n.5870-3681G>A) | |
2 | g.21002955A>C | CA345971183 | APOB | c.12467T>G (p.Leu4156Trp) c.5870-3682T>G (n.5870-3682T>G) | |
2 | g.21002955A>G | CA345971184 | APOB | c.12467T>C (p.Leu4156Ser) c.5870-3682T>C (n.5870-3682T>C) | |
2 | g.21002955A>T | CA345971185 | APOB | c.12467T>A (p.Leu4156Ter) c.5870-3682T>A (n.5870-3682T>A) | |
2 | g.21002956A>C | CA345971186 | APOB | c.12466T>G (p.Leu4156Val) c.5870-3683T>G (n.5870-3683T>G) | |
2 | g.21002956A>G | CA425342272 | APOB | c.12466T>C (p.Leu4156=) c.5870-3683T>C (n.5870-3683T>C) | |
2 | g.21002956A>T | CA345971187 | APOB | c.12466T>A (p.Leu4156Met) c.5870-3683T>A (n.5870-3683T>A) | |
2 | g.21002957C>A | CA425342275 | APOB | c.12465G>T (p.Leu4155=) c.5870-3684G>T (n.5870-3684G>T) | gnomAD v4 |
2 | g.21002957C= | CA2493473205 | APOB | c.12465G= (p.Leu4155=) c.5870-3684G= (n.5870-3684G=) | |
2 | g.21002957C>G | CA425342276 | APOB | c.12465G>C (p.Leu4155=) c.5870-3684G>C (n.5870-3684G>C) | |
2 | g.21002957C>T | CA050342 | APOB | c.12465G>A (p.Leu4155=) c.5870-3684G>A (n.5870-3684G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21002958A= | CA2493473206 | APOB | c.12464T= (p.Leu4155=) c.5870-3685T= (n.5870-3685T=) | |
2 | g.21002958A>C | CA345971188 | APOB | c.12464T>G (p.Leu4155Arg) c.5870-3685T>G (n.5870-3685T>G) | |
2 | g.21002958A>G | CA345971189 | APOB | c.12464T>C (p.Leu4155Pro) c.5870-3685T>C (n.5870-3685T>C) | |
2 | g.21002958A>T | CA345971190 | APOB | c.12464T>A (p.Leu4155Gln) c.5870-3685T>A (n.5870-3685T>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21002959G>A | CA425342279 | APOB | c.12463C>T (p.Leu4155=) c.5870-3686C>T (n.5870-3686C>T) | ClinVar dbSNP gnomAD v4 |
2 | g.21002959G>C | CA345971191 | APOB | c.12463C>G (p.Leu4155Val) c.5870-3686C>G (n.5870-3686C>G) | |
2 | g.21002959G= | CA2493473207 | APOB | c.12463C= (p.Leu4155=) c.5870-3686C= (n.5870-3686C=) | |
2 | g.21002959G>T | CA345971192 | APOB | c.12463C>A (p.Leu4155Met) c.5870-3686C>A (n.5870-3686C>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21002960T>A | CA345971193 | APOB | c.12462A>T (p.Glu4154Asp) c.5870-3687A>T (n.5870-3687A>T) | |
2 | g.21002960T>C | CA425342281 | APOB | c.12462A>G (p.Glu4154=) c.5870-3687A>G (n.5870-3687A>G) | |
2 | g.21002960T>G | CA345971194 | APOB | c.12462A>C (p.Glu4154Asp) c.5870-3687A>C (n.5870-3687A>C) | |
2 | g.21002961T>A | CA345971195 | APOB | c.12461A>T (p.Glu4154Val) c.5870-3688A>T (n.5870-3688A>T) | |
2 | g.21002961T>C | CA050331 | APOB | c.12461A>G (p.Glu4154Gly) c.5870-3688A>G (n.5870-3688A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21002961T>G | CA345971196 | APOB | c.12461A>C (p.Glu4154Ala) c.5870-3688A>C (n.5870-3688A>C) | |
2 | g.21002961T= | CA2493473208 | APOB | c.12461A= (p.Glu4154=) c.5870-3688A= (n.5870-3688A=) | |
2 | g.21002962C>A | CA050319 | APOB | c.12460G>T (p.Glu4154Ter) c.5870-3689G>T (n.5870-3689G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21002962C= | CA2493473209 | APOB | c.12460G= (p.Glu4154=) c.5870-3689G= (n.5870-3689G=) | |
2 | g.21002962C>G | CA345971197 | APOB | c.12460G>C (p.Glu4154Gln) c.5870-3689G>C (n.5870-3689G>C) | |
2 | g.21002962C>T | CA10588884 | APOB | c.12460G>A (p.Glu4154Lys) c.5870-3689G>A (n.5870-3689G>A) | ClinVar dbSNP |
2 | g.21002963C>A | CA345971198 | APOB | c.12459G>T (p.Gln4153His) c.5870-3690G>T (n.5870-3690G>T) | |
2 | g.21002963C= | CA2493473210 | APOB | c.12459G= (p.Gln4153=) c.5870-3690G= (n.5870-3690G=) | |
2 | g.21002963C>G | CA345971199 | APOB | c.12459G>C (p.Gln4153His) c.5870-3690G>C (n.5870-3690G>C) | |
2 | g.21002963C>T | CA43488969 | APOB | c.12459G>A (p.Gln4153=) c.5870-3690G>A (n.5870-3690G>A) | dbSNP COSMIC |
2 | g.21002964T>A | CA345971202 | APOB | c.12458A>T (p.Gln4153Leu) c.5870-3691A>T (n.5870-3691A>T) | |
2 | g.21002964T>C | CA345971200 | APOB | c.12458A>G (p.Gln4153Arg) c.5870-3691A>G (n.5870-3691A>G) | |
2 | g.21002964T>G | CA345971201 | APOB | c.12458A>C (p.Gln4153Pro) c.5870-3691A>C (n.5870-3691A>C) | |
2 | g.21002965G>A | CA345971203 | APOB | c.12457C>T (p.Gln4153Ter) c.5870-3692C>T (n.5870-3692C>T) | dbSNP |
2 | g.21002965G>C | CA345971204 | APOB | c.12457C>G (p.Gln4153Glu) c.5870-3692C>G (n.5870-3692C>G) | |
2 | g.21002965G= | CA2493473211 | APOB | c.12457C= (p.Gln4153=) c.5870-3692C= (n.5870-3692C=) | |
2 | g.21002965G>T | CA345971205 | APOB | c.12457C>A (p.Gln4153Lys) c.5870-3692C>A (n.5870-3692C>A) | ClinVar dbSNP |
2 | g.21002966G>A | CA425342285 | APOB | c.12456C>T (p.Tyr4152=) c.5870-3693C>T (n.5870-3693C>T) | dbSNP |
2 | g.21002966G>C | CA345971206 | APOB | c.12456C>G (p.Tyr4152Ter) c.5870-3693C>G (n.5870-3693C>G) | |
2 | g.21002966G= | CA2493473212 | APOB | c.12456C= (p.Tyr4152=) c.5870-3693C= (n.5870-3693C=) | |
2 | g.21002966G>T | CA345971207 | APOB | c.12456C>A (p.Tyr4152Ter) c.5870-3693C>A (n.5870-3693C>A) | |
2 | g.21002967T>A | CA345971208 | APOB | c.12455A>T (p.Tyr4152Phe) c.5870-3694A>T (n.5870-3694A>T) | |
2 | g.21002967T>C | CA345971210 | APOB | c.12455A>G (p.Tyr4152Cys) c.5870-3694A>G (n.5870-3694A>G) | gnomAD v4 |
2 | g.21002967T>G | CA345971209 | APOB | c.12455A>C (p.Tyr4152Ser) c.5870-3694A>C (n.5870-3694A>C) | dbSNP |
2 | g.21002967T= | CA2493473213 | APOB | c.12455A= (p.Tyr4152=) c.5870-3694A= (n.5870-3694A=) | |
2 | g.21002968A>C | CA345971211 | APOB | c.12454T>G (p.Tyr4152Asp) c.5870-3695T>G (n.5870-3695T>G) | |
2 | g.21002968A>G | CA345971212 | APOB | c.12454T>C (p.Tyr4152His) c.5870-3695T>C (n.5870-3695T>C) | |
2 | g.21002968A>T | CA345971213 | APOB | c.12454T>A (p.Tyr4152Asn) c.5870-3695T>A (n.5870-3695T>A) | |
2 | g.21002969C>A | CA425342292 | APOB | c.12453G>T (p.Leu4151=) c.5870-3696G>T (n.5870-3696G>T) | dbSNP gnomAD v4 |
2 | g.21002969C= | CA2493473214 | APOB | c.12453G= (p.Leu4151=) c.5870-3696G= (n.5870-3696G=) | |
2 | g.21002969C>G | CA425342290 | APOB | c.12453G>C (p.Leu4151=) c.5870-3696G>C (n.5870-3696G>C) | |
2 | g.21002969C>T | CA425342288 | APOB | c.12453G>A (p.Leu4151=) c.5870-3696G>A (n.5870-3696G>A) | |
2 | g.21002970A>C | CA345971214 | APOB | c.12452T>G (p.Leu4151Arg) c.5870-3697T>G (n.5870-3697T>G) | |
2 | g.21002970A>G | CA345971215 | APOB | c.12452T>C (p.Leu4151Pro) c.5870-3697T>C (n.5870-3697T>C) | gnomAD v4 |
2 | g.21002970A>T | CA345971216 | APOB | c.12452T>A (p.Leu4151Gln) c.5870-3697T>A (n.5870-3697T>A) | COSMIC |
2 | g.21002971G>A | CA425342295 | APOB | c.12451C>T (p.Leu4151=) c.5870-3698C>T (n.5870-3698C>T) | gnomAD v4 |
2 | g.21002971G>C | CA345971217 | APOB | c.12451C>G (p.Leu4151Val) c.5870-3698C>G (n.5870-3698C>G) | |
2 | g.21002971G>T | CA345971218 | APOB | c.12451C>A (p.Leu4151Met) c.5870-3698C>A (n.5870-3698C>A) | gnomAD v4 |
2 | g.21002972A>C | CA345971219 | APOB | c.12450T>G (p.Asn4150Lys) c.5870-3699T>G (n.5870-3699T>G) | gnomAD v4 |
2 | g.21002972A>G | CA425342298 | APOB | c.12450T>C (p.Asn4150=) c.5870-3699T>C (n.5870-3699T>C) | |
2 | g.21002972A>T | CA345971220 | APOB | c.12450T>A (p.Asn4150Lys) c.5870-3699T>A (n.5870-3699T>A) | |
2 | g.21002973T>A | CA345971223 | APOB | c.12449A>T (p.Asn4150Ile) c.5870-3700A>T (n.5870-3700A>T) | |
2 | g.21002973T>C | CA345971222 | APOB | c.12449A>G (p.Asn4150Ser) c.5870-3700A>G (n.5870-3700A>G) | |
2 | g.21002973T>G | CA345971221 | APOB | c.12449A>C (p.Asn4150Thr) c.5870-3700A>C (n.5870-3700A>C) | |
2 | g.21002974T>A | CA345971224 | APOB | c.12448A>T (p.Asn4150Tyr) c.5870-3701A>T (n.5870-3701A>T) | |
2 | g.21002974T>C | CA345971225 | APOB | c.12448A>G (p.Asn4150Asp) c.5870-3701A>G (n.5870-3701A>G) | |
2 | g.21002974T>G | CA345971226 | APOB | c.12448A>C (p.Asn4150His) c.5870-3701A>C (n.5870-3701A>C) | |
2 | g.21002975C>A | CA345971227 | APOB | c.12447G>T (p.Gln4149His) c.5870-3702G>T (n.5870-3702G>T) | |
2 | g.21002975C>G | CA345971228 | APOB | c.12447G>C (p.Gln4149His) c.5870-3702G>C (n.5870-3702G>C) | gnomAD v4 |
2 | g.21002975C>T | CA425342304 | APOB | c.12447G>A (p.Gln4149=) c.5870-3702G>A (n.5870-3702G>A) | |
2 | g.21002976T>A | CA345971229 | APOB | c.12446A>T (p.Gln4149Leu) c.5870-3703A>T (n.5870-3703A>T) | |
2 | g.21002976T>C | CA345971230 | APOB | c.12446A>G (p.Gln4149Arg) c.5870-3703A>G (n.5870-3703A>G) | |
2 | g.21002976T>G | CA345971231 | APOB | c.12446A>C (p.Gln4149Pro) c.5870-3703A>C (n.5870-3703A>C) | |
2 | g.21002977G>A | CA345971232 | APOB | c.12445C>T (p.Gln4149Ter) c.5870-3704C>T (n.5870-3704C>T) | |
2 | g.21002977G>C | CA345971234 | APOB | c.12445C>G (p.Gln4149Glu) c.5870-3704C>G (n.5870-3704C>G) | |
2 | g.21002977G>T | CA345971233 | APOB | c.12445C>A (p.Gln4149Lys) c.5870-3704C>A (n.5870-3704C>A) | |
2 | g.21002978G>A | CA425342309 | APOB | c.12444C>T (p.Ala4148=) c.5870-3705C>T (n.5870-3705C>T) | ClinVar dbSNP gnomAD v4 |
2 | g.21002978G>C | CA425342310 | APOB | c.12444C>G (p.Ala4148=) c.5870-3705C>G (n.5870-3705C>G) | |
2 | g.21002978G= | CA2493473216 | APOB | c.12444C= (p.Ala4148=) c.5870-3705C= (n.5870-3705C=) | |
2 | g.21002978G>T | CA050313 | APOB | c.12444C>A (p.Ala4148=) c.5870-3705C>A (n.5870-3705C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002978_21002979delinsGG | CA2493473215 | APOB | c.12443_12444delinsCC (p.Ala4148=) c.5870-3706_5870-3705delinsCC (n.5870-3706_5870-3705delinsCC) | |
2 | g.21002978_21002979delinsTT | CA913187895 | APOB | c.12443_12444delinsAA (p.Ala4148Glu) c.5870-3706_5870-3705delinsAA (n.5870-3706_5870-3705delinsAA) | ClinVar dbSNP |
2 | g.21002979G>A | CA345971235 | APOB | c.12443C>T (p.Ala4148Val) c.5870-3706C>T (n.5870-3706C>T) | |
2 | g.21002979G>C | CA345971236 | APOB | c.12443C>G (p.Ala4148Gly) c.5870-3706C>G (n.5870-3706C>G) | |
2 | g.21002979G= | CA2493473217 | APOB | c.12443C= (p.Ala4148=) c.5870-3706C= (n.5870-3706C=) | |
2 | g.21002979G>T | CA050302 | APOB | c.12443C>A (p.Ala4148Asp) c.5870-3706C>A (n.5870-3706C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002980C>A | CA345971239 | APOB | c.12442G>T (p.Ala4148Ser) c.5870-3707G>T (n.5870-3707G>T) | |
2 | g.21002980C= | CA2493473218 | APOB | c.12442G= (p.Ala4148=) c.5870-3707G= (n.5870-3707G=) | |
2 | g.21002980C>G | CA345971237 | APOB | c.12442G>C (p.Ala4148Pro) c.5870-3707G>C (n.5870-3707G>C) | |
2 | g.21002980C>T | CA345971238 | APOB | c.12442G>A (p.Ala4148Thr) c.5870-3707G>A (n.5870-3707G>A) | dbSNP gnomAD v4 |
2 | g.21002981C>A | CA345971240 | APOB | c.12441G>T (p.Lys4147Asn) c.5870-3708G>T (n.5870-3708G>T) | |
2 | g.21002981C>G | CA345971241 | APOB | c.12441G>C (p.Lys4147Asn) c.5870-3708G>C (n.5870-3708G>C) | |
2 | g.21002981C>T | CA425342314 | APOB | c.12441G>A (p.Lys4147=) c.5870-3708G>A (n.5870-3708G>A) | |
2 | g.21002982T>A | CA345971242 | APOB | c.12440A>T (p.Lys4147Met) c.5870-3709A>T (n.5870-3709A>T) | |
2 | g.21002982T>C | CA345971243 | APOB | c.12440A>G (p.Lys4147Arg) c.5870-3709A>G (n.5870-3709A>G) | |
2 | g.21002982T>G | CA345971244 | APOB | c.12440A>C (p.Lys4147Thr) c.5870-3709A>C (n.5870-3709A>C) | |
2 | g.21002983T>A | CA345971245 | APOB | c.12439A>T (p.Lys4147Ter) c.5870-3710A>T (n.5870-3710A>T) | |
2 | g.21002983T>C | CA345971246 | APOB | c.12439A>G (p.Lys4147Glu) c.5870-3710A>G (n.5870-3710A>G) | |
2 | g.21002983T>G | CA345971247 | APOB | c.12439A>C (p.Lys4147Gln) c.5870-3710A>C (n.5870-3710A>C) | |
2 | g.21002984G>A | CA425342316 | APOB | c.12438C>T (p.Asp4146=) c.5870-3711C>T (n.5870-3711C>T) | |
2 | g.21002984G>C | CA345971248 | APOB | c.12438C>G (p.Asp4146Glu) c.5870-3711C>G (n.5870-3711C>G) | |
2 | g.21002984G>T | CA345971249 | APOB | c.12438C>A (p.Asp4146Glu) c.5870-3711C>A (n.5870-3711C>A) | |
2 | g.21002985T>A | CA345971250 | APOB | c.12437A>T (p.Asp4146Val) c.5870-3712A>T (n.5870-3712A>T) | |
2 | g.21002985T>C | CA345971251 | APOB | c.12437A>G (p.Asp4146Gly) c.5870-3712A>G (n.5870-3712A>G) | dbSNP |
2 | g.21002985T>G | CA345971252 | APOB | c.12437A>C (p.Asp4146Ala) c.5870-3712A>C (n.5870-3712A>C) | |
2 | g.21002985T= | CA2493473219 | APOB | c.12437A= (p.Asp4146=) c.5870-3712A= (n.5870-3712A=) | |
2 | g.21002986C>A | CA345971253 | APOB | c.12436G>T (p.Asp4146Tyr) c.5870-3713G>T (n.5870-3713G>T) | |
2 | g.21002986C= | CA2493473220 | APOB | c.12436G= (p.Asp4146=) c.5870-3713G= (n.5870-3713G=) | |
2 | g.21002986C>G | CA345971254 | APOB | c.12436G>C (p.Asp4146His) c.5870-3713G>C (n.5870-3713G>C) | |
2 | g.21002986C>T | CA050286 | APOB | c.12436G>A (p.Asp4146Asn) c.5870-3713G>A (n.5870-3713G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002987C>A | CA345971255 | APOB | c.12435G>T (p.Lys4145Asn) c.5870-3714G>T (n.5870-3714G>T) | gnomAD v4 |
2 | g.21002987C>G | CA345971256 | APOB | c.12435G>C (p.Lys4145Asn) c.5870-3714G>C (n.5870-3714G>C) | gnomAD v4 |
2 | g.21002987C>T | CA425342323 | APOB | c.12435G>A (p.Lys4145=) c.5870-3714G>A (n.5870-3714G>A) | |
2 | g.21002988T>A | CA345971257 | APOB | c.12434A>T (p.Lys4145Met) c.5870-3715A>T (n.5870-3715A>T) | |
2 | g.21002988T>C | CA345971258 | APOB | c.12434A>G (p.Lys4145Arg) c.5870-3715A>G (n.5870-3715A>G) | |
2 | g.21002988T>G | CA345971259 | APOB | c.12434A>C (p.Lys4145Thr) c.5870-3715A>C (n.5870-3715A>C) | |
2 | g.21002989T>A | CA345971262 | APOB | c.12433A>T (p.Lys4145Ter) c.5870-3716A>T (n.5870-3716A>T) | |
2 | g.21002989T>C | CA345971261 | APOB | c.12433A>G (p.Lys4145Glu) c.5870-3716A>G (n.5870-3716A>G) | |
2 | g.21002989T>G | CA345971260 | APOB | c.12433A>C (p.Lys4145Gln) c.5870-3716A>C (n.5870-3716A>C) | |
2 | g.21002990C>A | CA345971263 | APOB | c.12432G>T (p.Trp4144Cys) c.5870-3717G>T (n.5870-3717G>T) | |
2 | g.21002990C= | CA2493473221 | APOB | c.12432G= (p.Trp4144=) c.5870-3717G= (n.5870-3717G=) | |
2 | g.21002990C>G | CA345971264 | APOB | c.12432G>C (p.Trp4144Cys) c.5870-3717G>C (n.5870-3717G>C) | |
2 | g.21002990C>T | CA43488990 | APOB | c.12432G>A (p.Trp4144Ter) c.5870-3717G>A (n.5870-3717G>A) | dbSNP |
2 | g.21002991C>A | CA345971265 | APOB | c.12431G>T (p.Trp4144Leu) c.5870-3718G>T (n.5870-3718G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21002991C= | CA2493473222 | APOB | c.12431G= (p.Trp4144=) c.5870-3718G= (n.5870-3718G=) | |
2 | g.21002991C>G | CA345971266 | APOB | c.12431G>C (p.Trp4144Ser) c.5870-3718G>C (n.5870-3718G>C) | |
2 | g.21002991C>T | CA345971267 | APOB | c.12431G>A (p.Trp4144Ter) c.5870-3718G>A (n.5870-3718G>A) | |
2 | g.21002992A= | CA2493473223 | APOB | c.12430T= (p.Trp4144=) c.5870-3719T= (n.5870-3719T=) | |
2 | g.21002992A>C | CA345971268 | APOB | c.12430T>G (p.Trp4144Gly) c.5870-3719T>G (n.5870-3719T>G) | |
2 | g.21002992A>G | CA050275 | APOB | c.12430T>C (p.Trp4144Arg) c.5870-3719T>C (n.5870-3719T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21002992A>T | CA345971269 | APOB | c.12430T>A (p.Trp4144Arg) c.5870-3719T>A (n.5870-3719T>A) | |
2 | g.21002993C>A | CA345971270 | APOB | c.12429G>T (p.Glu4143Asp) c.5870-3720G>T (n.5870-3720G>T) | |
2 | g.21002993C>G | CA345971271 | APOB | c.12429G>C (p.Glu4143Asp) c.5870-3720G>C (n.5870-3720G>C) | |
2 | g.21002993C>T | CA425342334 | APOB | c.12429G>A (p.Glu4143=) c.5870-3720G>A (n.5870-3720G>A) | |
2 | g.21002994T>A | CA345971272 | APOB | c.12428A>T (p.Glu4143Val) c.5870-3721A>T (n.5870-3721A>T) | |
2 | g.21002994T>C | CA345971273 | APOB | c.12428A>G (p.Glu4143Gly) c.5870-3721A>G (n.5870-3721A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21002994T>G | CA345971274 | APOB | c.12428A>C (p.Glu4143Ala) c.5870-3721A>C (n.5870-3721A>C) | |
2 | g.21002994T= | CA2493473224 | APOB | c.12428A= (p.Glu4143=) c.5870-3721A= (n.5870-3721A=) | |
2 | g.21002995C>A | CA345971275 | APOB | c.12427G>T (p.Glu4143Ter) c.5870-3722G>T (n.5870-3722G>T) | |
2 | g.21002995C= | CA2493473225 | APOB | c.12427G= (p.Glu4143=) c.5870-3722G= (n.5870-3722G=) | |
2 | g.21002995C>G | CA345971276 | APOB | c.12427G>C (p.Glu4143Gln) c.5870-3722G>C (n.5870-3722G>C) | ClinVar dbSNP |
2 | g.21002995C>T | CA43488997 | APOB | c.12427G>A (p.Glu4143Lys) c.5870-3722G>A (n.5870-3722G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21002996T>A | CA345971277 | APOB | c.12426A>T (p.Gln4142His) c.5870-3723A>T (n.5870-3723A>T) | |
2 | g.21002996T>C | CA425342339 | APOB | c.12426A>G (p.Gln4142=) c.5870-3723A>G (n.5870-3723A>G) | |
2 | g.21002996T>G | CA345971278 | APOB | c.12426A>C (p.Gln4142His) c.5870-3723A>C (n.5870-3723A>C) | |
2 | g.21002997T>A | CA345971279 | APOB | c.12425A>T (p.Gln4142Leu) c.5870-3724A>T (n.5870-3724A>T) | |
2 | g.21002997T>C | CA345971281 | APOB | c.12425A>G (p.Gln4142Arg) c.5870-3724A>G (n.5870-3724A>G) | |
2 | g.21002997T>G | CA345971280 | APOB | c.12425A>C (p.Gln4142Pro) c.5870-3724A>C (n.5870-3724A>C) | |
2 | g.21002998G>A | CA345971282 | APOB | c.12424C>T (p.Gln4142Ter) c.5870-3725C>T (n.5870-3725C>T) | |
2 | g.21002998G>C | CA345971283 | APOB | c.12424C>G (p.Gln4142Glu) c.5870-3725C>G (n.5870-3725C>G) | |
2 | g.21002998G>T | CA345971284 | APOB | c.12424C>A (p.Gln4142Lys) c.5870-3725C>A (n.5870-3725C>A) | |
2 | g.21002999G>A | CA425342343 | APOB | c.12423C>T (p.Tyr4141=) c.5870-3726C>T (n.5870-3726C>T) | ClinVar dbSNP |
2 | g.21002999G>C | CA345971285 | APOB | c.12423C>G (p.Tyr4141Ter) c.5870-3726C>G (n.5870-3726C>G) | |
2 | g.21002999G= | CA2493473226 | APOB | c.12423C= (p.Tyr4141=) c.5870-3726C= (n.5870-3726C=) | |
2 | g.21002999G>T | CA345971286 | APOB | c.12423C>A (p.Tyr4141Ter) c.5870-3726C>A (n.5870-3726C>A) | |
2 | g.21003000T>A | CA345971289 | APOB | c.12422A>T (p.Tyr4141Phe) c.5870-3727A>T (n.5870-3727A>T) | |
2 | g.21003000T>C | CA345971288 | APOB | c.12422A>G (p.Tyr4141Cys) c.5870-3727A>G (n.5870-3727A>G) | |
2 | g.21003000T>G | CA345971287 | APOB | c.12422A>C (p.Tyr4141Ser) c.5870-3727A>C (n.5870-3727A>C) | |
2 | g.21003001A>C | CA345971290 | APOB | c.12421T>G (p.Tyr4141Asp) c.5870-3728T>G (n.5870-3728T>G) | |
2 | g.21003001A>G | CA345971291 | APOB | c.12421T>C (p.Tyr4141His) c.5870-3728T>C (n.5870-3728T>C) | |
2 | g.21003001A>T | CA345971292 | APOB | c.12421T>A (p.Tyr4141Asn) c.5870-3728T>A (n.5870-3728T>A) | |
2 | g.21003002G>A | CA425342347 | APOB | c.12420C>T (p.Thr4140=) c.5870-3729C>T (n.5870-3729C>T) | |
2 | g.21003002G>C | CA425342348 | APOB | c.12420C>G (p.Thr4140=) c.5870-3729C>G (n.5870-3729C>G) | |
2 | g.21003002G>T | CA425342349 | APOB | c.12420C>A (p.Thr4140=) c.5870-3729C>A (n.5870-3729C>A) | |
2 | g.21003003G>A | CA345971293 | APOB | c.12419C>T (p.Thr4140Ile) c.5870-3730C>T (n.5870-3730C>T) | |
2 | g.21003003G>C | CA345971294 | APOB | c.12419C>G (p.Thr4140Ser) c.5870-3730C>G (n.5870-3730C>G) | |
2 | g.21003003G>T | CA345971295 | APOB | c.12419C>A (p.Thr4140Asn) c.5870-3730C>A (n.5870-3730C>A) | |
2 | g.21003004T>A | CA345971298 | APOB | c.12418A>T (p.Thr4140Ser) c.5870-3731A>T (n.5870-3731A>T) | |
2 | g.21003004T>C | CA345971296 | APOB | c.12418A>G (p.Thr4140Ala) c.5870-3731A>G (n.5870-3731A>G) | dbSNP |
2 | g.21003004T>G | CA345971297 | APOB | c.12418A>C (p.Thr4140Pro) c.5870-3731A>C (n.5870-3731A>C) | |
2 | g.21003004T= | CA2493473227 | APOB | c.12418A= (p.Thr4140=) c.5870-3731A= (n.5870-3731A=) | |
2 | g.21003005C>A | CA425342352 | APOB | c.12417G>T (p.Gly4139=) c.5870-3732G>T (n.5870-3732G>T) | gnomAD v4 |
2 | g.21003005C>G | CA425342354 | APOB | c.12417G>C (p.Gly4139=) c.5870-3732G>C (n.5870-3732G>C) | |
2 | g.21003005C>T | CA425342355 | APOB | c.12417G>A (p.Gly4139=) c.5870-3732G>A (n.5870-3732G>A) | |
2 | g.21003006C>A | CA345971299 | APOB | c.12416G>T (p.Gly4139Val) c.5870-3733G>T (n.5870-3733G>T) | gnomAD v4 |
2 | g.21003006C= | CA2493473228 | APOB | c.12416G= (p.Gly4139=) c.5870-3733G= (n.5870-3733G=) | |
2 | g.21003006C>G | CA345971300 | APOB | c.12416G>C (p.Gly4139Ala) c.5870-3733G>C (n.5870-3733G>C) | |
2 | g.21003006C>T | CA345971301 | APOB | c.12416G>A (p.Gly4139Glu) c.5870-3733G>A (n.5870-3733G>A) | ClinVar dbSNP |
2 | g.21003007C>A | CA345971302 | APOB | c.12415G>T (p.Gly4139Trp) c.5870-3734G>T (n.5870-3734G>T) | gnomAD v4 |
2 | g.21003007C>G | CA345971303 | APOB | c.12415G>C (p.Gly4139Arg) c.5870-3734G>C (n.5870-3734G>C) | |
2 | g.21003007C>T | CA345971304 | APOB | c.12415G>A (p.Gly4139Arg) c.5870-3734G>A (n.5870-3734G>A) | |
2 | g.21003008A= | CA2493473229 | APOB | c.12414T= (p.Thr4138=) c.5870-3735T= (n.5870-3735T=) | |
2 | g.21003008A>C | CA425342364 | APOB | c.12414T>G (p.Thr4138=) c.5870-3735T>G (n.5870-3735T>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.21003008A>G | CA425342363 | APOB | c.12414T>C (p.Thr4138=) c.5870-3735T>C (n.5870-3735T>C) | ClinVar |
2 | g.21003008A>T | CA425342362 | APOB | c.12414T>A (p.Thr4138=) c.5870-3735T>A (n.5870-3735T>A) | |
2 | g.21003009G>A | CA345971305 | APOB | c.12413C>T (p.Thr4138Ile) c.5870-3736C>T (n.5870-3736C>T) | |
2 | g.21003009G>C | CA345971306 | APOB | c.12413C>G (p.Thr4138Ser) c.5870-3736C>G (n.5870-3736C>G) | |
2 | g.21003009G>T | CA345971307 | APOB | c.12413C>A (p.Thr4138Asn) c.5870-3736C>A (n.5870-3736C>A) | |
2 | g.21003010T>A | CA345971308 | APOB | c.12412A>T (p.Thr4138Ser) c.5870-3737A>T (n.5870-3737A>T) | |
2 | g.21003010T>C | CA345971309 | APOB | c.12412A>G (p.Thr4138Ala) c.5870-3737A>G (n.5870-3737A>G) | ClinVar |
2 | g.21003010T>G | CA345971310 | APOB | c.12412A>C (p.Thr4138Pro) c.5870-3737A>C (n.5870-3737A>C) | |
2 | g.21003011G>A | CA425342475 | APOB | c.12411C>T (p.Thr4137=) c.5870-3738C>T (n.5870-3738C>T) | |
2 | g.21003011G>C | CA425342474 | APOB | c.12411C>G (p.Thr4137=) c.5870-3738C>G (n.5870-3738C>G) | |
2 | g.21003011G>T | CA425342473 | APOB | c.12411C>A (p.Thr4137=) c.5870-3738C>A (n.5870-3738C>A) | gnomAD v4 |
2 | g.21003012G>A | CA345971311 | APOB | c.12410C>T (p.Thr4137Ile) c.5870-3739C>T (n.5870-3739C>T) | dbSNP gnomAD v2 |
2 | g.21003012G>C | CA345971313 | APOB | c.12410C>G (p.Thr4137Ser) c.5870-3739C>G (n.5870-3739C>G) | |
2 | g.21003012G= | CA2493473230 | APOB | c.12410C= (p.Thr4137=) c.5870-3739C= (n.5870-3739C=) | |
2 | g.21003012G>T | CA345971312 | APOB | c.12410C>A (p.Thr4137Asn) c.5870-3739C>A (n.5870-3739C>A) | |
2 | g.21003013T>A | CA345971314 | APOB | c.12409A>T (p.Thr4137Ser) c.5870-3740A>T (n.5870-3740A>T) | |
2 | g.21003013T>C | CA345971315 | APOB | c.12409A>G (p.Thr4137Ala) c.5870-3740A>G (n.5870-3740A>G) | |
2 | g.21003013T>G | CA345971316 | APOB | c.12409A>C (p.Thr4137Pro) c.5870-3740A>C (n.5870-3740A>C) | |
2 | g.21003014G>A | CA425342479 | APOB | c.12408C>T (p.Gly4136=) c.5870-3741C>T (n.5870-3741C>T) | dbSNP gnomAD v4 |
2 | g.21003014G>C | CA425342482 | APOB | c.12408C>G (p.Gly4136=) c.5870-3741C>G (n.5870-3741C>G) | |
2 | g.21003014G= | CA2493473231 | APOB | c.12408C= (p.Gly4136=) c.5870-3741C= (n.5870-3741C=) | |
2 | g.21003014G>T | CA425342481 | APOB | c.12408C>A (p.Gly4136=) c.5870-3741C>A (n.5870-3741C>A) | |
2 | g.21003015C>A | CA345971317 | APOB | c.12407G>T (p.Gly4136Val) c.5870-3742G>T (n.5870-3742G>T) | |
2 | g.21003015C>G | CA345971318 | APOB | c.12407G>C (p.Gly4136Ala) c.5870-3742G>C (n.5870-3742G>C) | |
2 | g.21003015C>T | CA345971319 | APOB | c.12407G>A (p.Gly4136Asp) c.5870-3742G>A (n.5870-3742G>A) | |
2 | g.21003016C>A | CA345971320 | APOB | c.12406G>T (p.Gly4136Cys) c.5870-3743G>T (n.5870-3743G>T) | |
2 | g.21003016C>G | CA345971321 | APOB | c.12406G>C (p.Gly4136Arg) c.5870-3743G>C (n.5870-3743G>C) | |
2 | g.21003016C>T | CA345971322 | APOB | c.12406G>A (p.Gly4136Ser) c.5870-3743G>A (n.5870-3743G>A) | gnomAD v4 |
2 | g.21003017A>C | CA345971323 | APOB | c.12405T>G (p.Ser4135Arg) c.5870-3744T>G (n.5870-3744T>G) | |
2 | g.21003017A>G | CA425342485 | APOB | c.12405T>C (p.Ser4135=) c.5870-3744T>C (n.5870-3744T>C) | |
2 | g.21003017A>T | CA345971324 | APOB | c.12405T>A (p.Ser4135Arg) c.5870-3744T>A (n.5870-3744T>A) | |
2 | g.21003018C>A | CA345971327 | APOB | c.12404G>T (p.Ser4135Ile) c.5870-3745G>T (n.5870-3745G>T) | ClinVar dbSNP gnomAD v4 |
2 | g.21003018C= | CA2493473232 | APOB | c.12404G= (p.Ser4135=) c.5870-3745G= (n.5870-3745G=) | |
2 | g.21003018C>G | CA345971326 | APOB | c.12404G>C (p.Ser4135Thr) c.5870-3745G>C (n.5870-3745G>C) | |
2 | g.21003018C>T | CA345971325 | APOB | c.12404G>A (p.Ser4135Asn) c.5870-3745G>A (n.5870-3745G>A) | |
2 | g.21003019T>A | CA345971328 | APOB | c.12403A>T (p.Ser4135Cys) c.5870-3746A>T (n.5870-3746A>T) | |
2 | g.21003019T>C | CA345971329 | APOB | c.12403A>G (p.Ser4135Gly) c.5870-3746A>G (n.5870-3746A>G) | |
2 | g.21003019T>G | CA345971330 | APOB | c.12403A>C (p.Ser4135Arg) c.5870-3746A>C (n.5870-3746A>C) | |
2 | g.21003020G>A | CA425342488 | APOB | c.12402C>T (p.Ala4134=) c.5870-3747C>T (n.5870-3747C>T) | ClinVar gnomAD v4 |
2 | g.21003020G>C | CA425342489 | APOB | c.12402C>G (p.Ala4134=) c.5870-3747C>G (n.5870-3747C>G) | |
2 | g.21003020G>T | CA425342490 | APOB | c.12402C>A (p.Ala4134=) c.5870-3747C>A (n.5870-3747C>A) | |
2 | g.21003021G>A | CA345971331 | APOB | c.12401C>T (p.Ala4134Val) c.5870-3748C>T (n.5870-3748C>T) | |
2 | g.21003021G>C | CA345971332 | APOB | c.12401C>G (p.Ala4134Gly) c.5870-3748C>G (n.5870-3748C>G) | |
2 | g.21003021G>T | CA345971333 | APOB | c.12401C>A (p.Ala4134Asp) c.5870-3748C>A (n.5870-3748C>A) | |
2 | g.21003022C>A | CA345971334 | APOB | c.12400G>T (p.Ala4134Ser) c.5870-3749G>T (n.5870-3749G>T) | |
2 | g.21003022C>G | CA345971335 | APOB | c.12400G>C (p.Ala4134Pro) c.5870-3749G>C (n.5870-3749G>C) | |
2 | g.21003022C>T | CA345971336 | APOB | c.12400G>A (p.Ala4134Thr) c.5870-3749G>A (n.5870-3749G>A) | gnomAD v4 |
2 | g.21003023T>A | CA425342491 | APOB | c.12399A>T (p.Ala4133=) c.5870-3750A>T (n.5870-3750A>T) | |
2 | g.21003023T>C | CA425342492 | APOB | c.12399A>G (p.Ala4133=) c.5870-3750A>G (n.5870-3750A>G) | |
2 | g.21003023T>G | CA425342494 | APOB | c.12399A>C (p.Ala4133=) c.5870-3750A>C (n.5870-3750A>C) | |
2 | g.21003024G>A | CA345971337 | APOB | c.12398C>T (p.Ala4133Val) c.5870-3751C>T (n.5870-3751C>T) | |
2 | g.21003024G>C | CA345971338 | APOB | c.12398C>G (p.Ala4133Gly) c.5870-3751C>G (n.5870-3751C>G) | |
2 | g.21003024G>T | CA345971339 | APOB | c.12398C>A (p.Ala4133Glu) c.5870-3751C>A (n.5870-3751C>A) | |
2 | g.21003025C>A | CA345971341 | APOB | c.12397G>T (p.Ala4133Ser) c.5870-3752G>T (n.5870-3752G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21003025C= | CA2493473233 | APOB | c.12397G= (p.Ala4133=) c.5870-3752G= (n.5870-3752G=) | |
2 | g.21003025C>G | CA050257 | APOB | c.12397G>C (p.Ala4133Pro) c.5870-3752G>C (n.5870-3752G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.21003025C>T | CA345971340 | APOB | c.12397G>A (p.Ala4133Thr) c.5870-3752G>A (n.5870-3752G>A) | dbSNP |
2 | g.21003026T>A | CA345971342 | APOB | c.12396A>T (p.Lys4132Asn) c.5870-3753A>T (n.5870-3753A>T) | |
2 | g.21003026T>C | CA425342497 | APOB | c.12396A>G (p.Lys4132=) c.5870-3753A>G (n.5870-3753A>G) | gnomAD v4 |
2 | g.21003026T>G | CA050251 | APOB | c.12396A>C (p.Lys4132Asn) c.5870-3753A>C (n.5870-3753A>C) | dbSNP ExAC gnomAD v2 |
2 | g.21003026T= | CA2493473234 | APOB | c.12396A= (p.Lys4132=) c.5870-3753A= (n.5870-3753A=) | |
2 | g.21003028del | CA2658054589 | APOB | c.12396del (p.Ala4133GlnfsTer24) c.5870-3753del (n.5870-3753del) | gnomAD v4 |
2 | g.21003027T>A | CA345971343 | APOB | c.12395A>T (p.Lys4132Ile) c.5870-3754A>T (n.5870-3754A>T) | |
2 | g.21003027T>C | CA345971345 | APOB | c.12395A>G (p.Lys4132Arg) c.5870-3754A>G (n.5870-3754A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21003027T>G | CA345971344 | APOB | c.12395A>C (p.Lys4132Thr) c.5870-3754A>C (n.5870-3754A>C) | |
2 | g.21003027T= | CA2493473235 | APOB | c.12395A= (p.Lys4132=) c.5870-3754A= (n.5870-3754A=) | |
2 | g.21003028T>A | CA345971346 | APOB | c.12394A>T (p.Lys4132Ter) c.5870-3755A>T (n.5870-3755A>T) | |
2 | g.21003028T>C | CA345971348 | APOB | c.12394A>G (p.Lys4132Glu) c.5870-3755A>G (n.5870-3755A>G) | |
2 | g.21003028T>G | CA345971347 | APOB | c.12394A>C (p.Lys4132Gln) c.5870-3755A>C (n.5870-3755A>C) | |
2 | g.21003029C>A | CA345971349 | APOB | c.12393G>T (p.Gln4131His) c.5870-3756G>T (n.5870-3756G>T) | |
2 | g.21003029C= | CA2493473236 | APOB | c.12393G= (p.Gln4131=) c.5870-3756G= (n.5870-3756G=) | |
2 | g.21003029C>G | CA345971350 | APOB | c.12393G>C (p.Gln4131His) c.5870-3756G>C (n.5870-3756G>C) | |
2 | g.21003029C>T | CA050241 | APOB | c.12393G>A (p.Gln4131=) c.5870-3756G>A (n.5870-3756G>A) | dbSNP ExAC |
2 | g.21003030T>A | CA345971351 | APOB | c.12392A>T (p.Gln4131Leu) c.5870-3757A>T (n.5870-3757A>T) | |
2 | g.21003030T>C | CA345971352 | APOB | c.12392A>G (p.Gln4131Arg) c.5870-3757A>G (n.5870-3757A>G) | |
2 | g.21003030T>G | CA345971353 | APOB | c.12392A>C (p.Gln4131Pro) c.5870-3757A>C (n.5870-3757A>C) | |
2 | g.21003031G>A | CA345971354 | APOB | c.12391C>T (p.Gln4131Ter) c.5870-3758C>T (n.5870-3758C>T) | |
2 | g.21003031G>C | CA345971355 | APOB | c.12391C>G (p.Gln4131Glu) c.5870-3758C>G (n.5870-3758C>G) | |
2 | g.21003031G>T | CA345971356 | APOB | c.12391C>A (p.Gln4131Lys) c.5870-3758C>A (n.5870-3758C>A) | |
2 | g.21003032G>A | CA425342501 | APOB | c.12390C>T (p.Phe4130=) c.5870-3759C>T (n.5870-3759C>T) | |
2 | g.21003032G>C | CA345971357 | APOB | c.12390C>G (p.Phe4130Leu) c.5870-3759C>G (n.5870-3759C>G) | |
2 | g.21003032G= | CA2493473238 | APOB | c.12390C= (p.Phe4130=) c.5870-3759C= (n.5870-3759C=) | |
2 | g.21003032G>T | CA345971358 | APOB | c.12390C>A (p.Phe4130Leu) c.5870-3759C>A (n.5870-3759C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21003032_21003033delinsGA | CA2493473237 | APOB | c.12389_12390delinsTC (p.Phe4130=) c.5870-3760_5870-3759delinsTC (n.5870-3760_5870-3759delinsTC) | |
2 | g.21003033A= | CA2493473239 | APOB | c.12389T= (p.Phe4130=) c.5870-3760T= (n.5870-3760T=) | |
2 | g.21003033A>C | CA345971359 | APOB | c.12389T>G (p.Phe4130Cys) c.5870-3760T>G (n.5870-3760T>G) | |
2 | g.21003033A>G | CA050222 | APOB | c.12389T>C (p.Phe4130Ser) c.5870-3760T>C (n.5870-3760T>C) | dbSNP ExAC |
2 | g.21003033A>T | CA345971360 | APOB | c.12389T>A (p.Phe4130Tyr) c.5870-3760T>A (n.5870-3760T>A) | |
2 | g.21003034del | CA764089410 | APOB | c.12389del (p.Phe4130SerfsTer27) c.5870-3760del (n.5870-3760del) | dbSNP |
2 | g.21003034A>C | CA345971363 | APOB | c.12388T>G (p.Phe4130Val) c.5870-3761T>G (n.5870-3761T>G) | |
2 | g.21003034A>G | CA345971361 | APOB | c.12388T>C (p.Phe4130Leu) c.5870-3761T>C (n.5870-3761T>C) | |
2 | g.21003034A>T | CA345971362 | APOB | c.12388T>A (p.Phe4130Ile) c.5870-3761T>A (n.5870-3761T>A) | |
2 | g.21003035C>A | CA050208 | APOB | c.12387G>T (p.Arg4129Ser) c.5870-3762G>T (n.5870-3762G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21003035C= | CA2493473240 | APOB | c.12387G= (p.Arg4129=) c.5870-3762G= (n.5870-3762G=) | |
2 | g.21003035C>G | CA345971364 | APOB | c.12387G>C (p.Arg4129Ser) c.5870-3762G>C (n.5870-3762G>C) | gnomAD v4 |
2 | g.21003035C>T | CA425342502 | APOB | c.12387G>A (p.Arg4129=) c.5870-3762G>A (n.5870-3762G>A) | |
2 | g.21003036C>A | CA345971365 | APOB | c.12386G>T (p.Arg4129Met) c.5870-3763G>T (n.5870-3763G>T) | gnomAD v4 |
2 | g.21003036C>G | CA345971366 | APOB | c.12386G>C (p.Arg4129Thr) c.5870-3763G>C (n.5870-3763G>C) | |
2 | g.21003036C>T | CA345971367 | APOB | c.12386G>A (p.Arg4129Lys) c.5870-3763G>A (n.5870-3763G>A) | |
2 | g.21003037T>A | CA345971368 | APOB | c.12385A>T (p.Arg4129Trp) c.5870-3764A>T (n.5870-3764A>T) | |
2 | g.21003037T>C | CA43489041 | APOB | c.12385A>G (p.Arg4129Gly) c.5870-3764A>G (n.5870-3764A>G) | dbSNP |
2 | g.21003037T>G | CA43489043 | APOB | c.12385A>C (p.Arg4129=) c.5870-3764A>C (n.5870-3764A>C) | dbSNP |
2 | g.21003037T= | CA2493473241 | APOB | c.12385A= (p.Arg4129=) c.5870-3764A= (n.5870-3764A=) | |
2 | g.21003038C>A | CA425342505 | APOB | c.12384G>T (p.Val4128=) c.5870-3765G>T (n.5870-3765G>T) | |
2 | g.21003038C>G | CA425342507 | APOB | c.12384G>C (p.Val4128=) c.5870-3765G>C (n.5870-3765G>C) | |
2 | g.21003038C>T | CA425342508 | APOB | c.12384G>A (p.Val4128=) c.5870-3765G>A (n.5870-3765G>A) | COSMIC |
2 | g.21003039A= | CA2493473242 | APOB | c.12383T= (p.Val4128=) c.5870-3766T= (n.5870-3766T=) | |
2 | g.21003039A>C | CA050197 | APOB | c.12383T>G (p.Val4128Gly) c.5870-3766T>G (n.5870-3766T>G) | dbSNP ExAC |
2 | g.21003039A>G | CA345971369 | APOB | c.12383T>C (p.Val4128Ala) c.5870-3766T>C (n.5870-3766T>C) | dbSNP gnomAD v4 |
2 | g.21003039A>T | CA345971370 | APOB | c.12383T>A (p.Val4128Glu) c.5870-3766T>A (n.5870-3766T>A) | |
2 | g.21003040C>A | CA050184 | APOB | c.12382G>T (p.Val4128Leu) c.5870-3767G>T (n.5870-3767G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21003040C= | CA2493473243 | APOB | c.12382G= (p.Val4128=) c.5870-3767G= (n.5870-3767G=) | |
2 | g.21003040C>G | CA43489063 | APOB | c.12382G>C (p.Val4128Leu) c.5870-3767G>C (n.5870-3767G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.21003040C>T | CA050163 | APOB | c.12382G>A (p.Val4128Met) c.5870-3767G>A (n.5870-3767G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21003041G>A | CA050157 | APOB | c.12381C>T (p.Asp4127=) c.5870-3768C>T (n.5870-3768C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21003041G>C | CA345971371 | APOB | c.12381C>G (p.Asp4127Glu) c.5870-3768C>G (n.5870-3768C>G) | |
2 | g.21003041G= | CA2493473244 | APOB | c.12381C= (p.Asp4127=) c.5870-3768C= (n.5870-3768C=) | |
2 | g.21003041G>T | CA345971372 | APOB | c.12381C>A (p.Asp4127Glu) c.5870-3768C>A (n.5870-3768C>A) | dbSNP |
2 | g.21003042T>A | CA345971373 | APOB | c.12380A>T (p.Asp4127Val) c.5870-3769A>T (n.5870-3769A>T) | |
2 | g.21003042T>C | CA345971374 | APOB | c.12380A>G (p.Asp4127Gly) c.5870-3769A>G (n.5870-3769A>G) | ClinVar dbSNP gnomAD v4 COSMIC |
2 | g.21003042T>G | CA345971375 | APOB | c.12380A>C (p.Asp4127Ala) c.5870-3769A>C (n.5870-3769A>C) | |
2 | g.21003042T= | CA2493473245 | APOB | c.12380A= (p.Asp4127=) c.5870-3769A= (n.5870-3769A=) | |
2 | g.21003043C>A | CA345971376 | APOB | c.12379G>T (p.Asp4127Tyr) c.5870-3770G>T (n.5870-3770G>T) | |
2 | g.21003043C= | CA2493473246 | APOB | c.12379G= (p.Asp4127=) c.5870-3770G= (n.5870-3770G=) | |
2 | g.21003043C>G | CA345971377 | APOB | c.12379G>C (p.Asp4127His) c.5870-3770G>C (n.5870-3770G>C) | |
2 | g.21003043C>T | CA050143 | APOB | c.12379G>A (p.Asp4127Asn) c.5870-3770G>A (n.5870-3770G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.21003044G>A | CA425342513 | APOB | c.12378C>T (p.Ile4126=) c.5870-3771C>T (n.5870-3771C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.21003044G>C | CA345971378 | APOB | c.12378C>G (p.Ile4126Met) c.5870-3771C>G (n.5870-3771C>G) | |
2 | g.21003044G= | CA2493473247 | APOB | c.12378C= (p.Ile4126=) c.5870-3771C= (n.5870-3771C=) | |
2 | g.21003044G>T | CA425342514 | APOB | c.12378C>A (p.Ile4126=) c.5870-3771C>A (n.5870-3771C>A) |