Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.21002583G>A | CA345970376 | APOB | c.12839C>T (p.Ala4280Val) c.5870-3310C>T (n.5870-3310C>T) | gnomAD v4 |
2 | g.21002583G>C | CA345970377 | APOB | c.12839C>G (p.Ala4280Gly) c.5870-3310C>G (n.5870-3310C>G) | |
2 | g.21002583G= | CA2493473050 | APOB | c.12839C= (p.Ala4280=) c.5870-3310C= (n.5870-3310C=) | |
2 | g.21002583G>T | CA345970378 | APOB | c.12839C>A (p.Ala4280Asp) c.5870-3310C>A (n.5870-3310C>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21002584C>A | CA345970379 | APOB | c.12838G>T (p.Ala4280Ser) c.5870-3311G>T (n.5870-3311G>T) | |
2 | g.21002584C>G | CA345970380 | APOB | c.12838G>C (p.Ala4280Pro) c.5870-3311G>C (n.5870-3311G>C) | |
2 | g.21002584C>T | CA345970381 | APOB | c.12838G>A (p.Ala4280Thr) c.5870-3311G>A (n.5870-3311G>A) | gnomAD v4 |
2 | g.21002585T>A | CA345970382 | APOB | c.12837A>T (p.Glu4279Asp) c.5870-3312A>T (n.5870-3312A>T) | |
2 | g.21002585T>C | CA425342448 | APOB | c.12837A>G (p.Glu4279=) c.5870-3312A>G (n.5870-3312A>G) | |
2 | g.21002585T>G | CA345970383 | APOB | c.12837A>C (p.Glu4279Asp) c.5870-3312A>C (n.5870-3312A>C) | |
2 | g.21002586T>A | CA345970384 | APOB | c.12836A>T (p.Glu4279Val) c.5870-3313A>T (n.5870-3313A>T) | |
2 | g.21002586T>C | CA345970385 | APOB | c.12836A>G (p.Glu4279Gly) c.5870-3313A>G (n.5870-3313A>G) | |
2 | g.21002586T>G | CA345970386 | APOB | c.12836A>C (p.Glu4279Ala) c.5870-3313A>C (n.5870-3313A>C) | |
2 | g.21002587C>A | CA345970387 | APOB | c.12835G>T (p.Glu4279Ter) c.5870-3314G>T (n.5870-3314G>T) | COSMIC |
2 | g.21002587C= | CA2493473051 | APOB | c.12835G= (p.Glu4279=) c.5870-3314G= (n.5870-3314G=) | |
2 | g.21002587C>G | CA345970388 | APOB | c.12835G>C (p.Glu4279Gln) c.5870-3314G>C (n.5870-3314G>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21002587C>T | CA345970389 | APOB | c.12835G>A (p.Glu4279Lys) c.5870-3314G>A (n.5870-3314G>A) | |
2 | g.21002588T>A | CA345970390 | APOB | c.12834A>T (p.Lys4278Asn) c.5870-3315A>T (n.5870-3315A>T) | |
2 | g.21002588T>C | CA425342450 | APOB | c.12834A>G (p.Lys4278=) c.5870-3315A>G (n.5870-3315A>G) | gnomAD v4 |
2 | g.21002588T>G | CA345970391 | APOB | c.12834A>C (p.Lys4278Asn) c.5870-3315A>C (n.5870-3315A>C) | |
2 | g.21002589T>A | CA345970392 | APOB | c.12833A>T (p.Lys4278Ile) c.5870-3316A>T (n.5870-3316A>T) | |
2 | g.21002589T>C | CA345970394 | APOB | c.12833A>G (p.Lys4278Arg) c.5870-3316A>G (n.5870-3316A>G) | |
2 | g.21002589T>G | CA345970393 | APOB | c.12833A>C (p.Lys4278Thr) c.5870-3316A>C (n.5870-3316A>C) | |
2 | g.21002590T>A | CA345970395 | APOB | c.12832A>T (p.Lys4278Ter) c.5870-3317A>T (n.5870-3317A>T) | |
2 | g.21002590T>C | CA345970396 | APOB | c.12832A>G (p.Lys4278Glu) c.5870-3317A>G (n.5870-3317A>G) | |
2 | g.21002590T>G | CA345970397 | APOB | c.12832A>C (p.Lys4278Gln) c.5870-3317A>C (n.5870-3317A>C) | |
2 | g.21002591T>A | CA425342453 | APOB | c.12831A>T (p.Ser4277=) c.5870-3318A>T (n.5870-3318A>T) | |
2 | g.21002591T>C | CA425342454 | APOB | c.12831A>G (p.Ser4277=) c.5870-3318A>G (n.5870-3318A>G) | |
2 | g.21002591T>G | CA425342456 | APOB | c.12831A>C (p.Ser4277=) c.5870-3318A>C (n.5870-3318A>C) | |
2 | g.21002592G>A | CA345970398 | APOB | c.12830C>T (p.Ser4277Leu) c.5870-3319C>T (n.5870-3319C>T) | |
2 | g.21002592G>C | CA43488458 | APOB | c.12830C>G (p.Ser4277Ter) c.5870-3319C>G (n.5870-3319C>G) | dbSNP gnomAD v4 |
2 | g.21002592G= | CA2493473052 | APOB | c.12830C= (p.Ser4277=) c.5870-3319C= (n.5870-3319C=) | |
2 | g.21002592G>T | CA345970399 | APOB | c.12830C>A (p.Ser4277Ter) c.5870-3319C>A (n.5870-3319C>A) | |
2 | g.21002593A= | CA2493473053 | APOB | c.12829T= (p.Ser4277=) c.5870-3320T= (n.5870-3320T=) | |
2 | g.21002593A>C | CA345970400 | APOB | c.12829T>G (p.Ser4277Ala) c.5870-3320T>G (n.5870-3320T>G) | |
2 | g.21002593A>G | CA345970401 | APOB | c.12829T>C (p.Ser4277Pro) c.5870-3320T>C (n.5870-3320T>C) | ClinVar dbSNP gnomAD v4 |
2 | g.21002593A>T | CA345970402 | APOB | c.12829T>A (p.Ser4277Thr) c.5870-3320T>A (n.5870-3320T>A) | |
2 | g.21002594T>A | CA345970403 | APOB | c.12828A>T (p.Leu4276Phe) c.5870-3321A>T (n.5870-3321A>T) | |
2 | g.21002594T>C | CA425342462 | APOB | c.12828A>G (p.Leu4276=) c.5870-3321A>G (n.5870-3321A>G) | |
2 | g.21002594T>G | CA345970404 | APOB | c.12828A>C (p.Leu4276Phe) c.5870-3321A>C (n.5870-3321A>C) | |
2 | g.21002595A>C | CA345970407 | APOB | c.12827T>G (p.Leu4276Ter) c.5870-3322T>G (n.5870-3322T>G) | |
2 | g.21002595A>G | CA345970406 | APOB | c.12827T>C (p.Leu4276Ser) c.5870-3322T>C (n.5870-3322T>C) | |
2 | g.21002595A>T | CA345970405 | APOB | c.12827T>A (p.Leu4276Ter) c.5870-3322T>A (n.5870-3322T>A) | |
2 | g.21002597dup | CA2658054430 | APOB | c.12827dup (p.Leu4276PhefsTer10) c.5870-3322dup (n.5870-3322dup) | gnomAD v4 |
2 | g.21002596A>C | CA345970408 | APOB | c.12826T>G (p.Leu4276Val) c.5870-3323T>G (n.5870-3323T>G) | COSMIC |
2 | g.21002596A>G | CA425342465 | APOB | c.12826T>C (p.Leu4276=) c.5870-3323T>C (n.5870-3323T>C) | |
2 | g.21002596A>T | CA345970409 | APOB | c.12826T>A (p.Leu4276Ile) c.5870-3323T>A (n.5870-3323T>A) | |
2 | g.21002597A>C | CA345970410 | APOB | c.12825T>G (p.Asp4275Glu) c.5870-3324T>G (n.5870-3324T>G) | |
2 | g.21002597A>G | CA425342468 | APOB | c.12825T>C (p.Asp4275=) c.5870-3324T>C (n.5870-3324T>C) | |
2 | g.21002597A>T | CA345970411 | APOB | c.12825T>A (p.Asp4275Glu) c.5870-3324T>A (n.5870-3324T>A) | |
2 | g.21002598T>A | CA051306 | APOB | c.12824A>T (p.Asp4275Val) c.5870-3325A>T (n.5870-3325A>T) | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.21002598T>C | CA345970412 | APOB | c.12824A>G (p.Asp4275Gly) c.5870-3325A>G (n.5870-3325A>G) | |
2 | g.21002598T>G | CA051296 | APOB | c.12824A>C (p.Asp4275Ala) c.5870-3325A>C (n.5870-3325A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002598T= | CA2493473054 | APOB | c.12824A= (p.Asp4275=) c.5870-3325A= (n.5870-3325A=) | |
2 | g.21002600_21002603del | CA645535041 | APOB | c.12821_12824del (p.Lys4274IlefsTer?) c.5870-3328_5870-3325del (n.5870-3328_5870-3325del) | COSMIC |
2 | g.21002599C>A | CA345970413 | APOB | c.12823G>T (p.Asp4275Tyr) c.5870-3326G>T (n.5870-3326G>T) | |
2 | g.21002599C>G | CA345970414 | APOB | c.12823G>C (p.Asp4275His) c.5870-3326G>C (n.5870-3326G>C) | |
2 | g.21002599C>T | CA345970415 | APOB | c.12823G>A (p.Asp4275Asn) c.5870-3326G>A (n.5870-3326G>A) | |
2 | g.21002600T>A | CA345970416 | APOB | c.12822A>T (p.Lys4274Asn) c.5870-3327A>T (n.5870-3327A>T) | dbSNP |
2 | g.21002600T>C | CA425342469 | APOB | c.12822A>G (p.Lys4274=) c.5870-3327A>G (n.5870-3327A>G) | |
2 | g.21002600T>G | CA345970417 | APOB | c.12822A>C (p.Lys4274Asn) c.5870-3327A>C (n.5870-3327A>C) | |
2 | g.21002600T= | CA2493473055 | APOB | c.12822A= (p.Lys4274=) c.5870-3327A= (n.5870-3327A=) | |
2 | g.21002601T>A | CA345970420 | APOB | c.12821A>T (p.Lys4274Ile) c.5870-3328A>T (n.5870-3328A>T) | |
2 | g.21002601T>C | CA345970419 | APOB | c.12821A>G (p.Lys4274Arg) c.5870-3328A>G (n.5870-3328A>G) | |
2 | g.21002601T>G | CA345970418 | APOB | c.12821A>C (p.Lys4274Thr) c.5870-3328A>C (n.5870-3328A>C) | |
2 | g.21002602T>A | CA345970421 | APOB | c.12820A>T (p.Lys4274Ter) c.5870-3329A>T (n.5870-3329A>T) | |
2 | g.21002602T>C | CA051284 | APOB | c.12820A>G (p.Lys4274Glu) c.5870-3329A>G (n.5870-3329A>G) | dbSNP ExAC gnomAD v2 |
2 | g.21002602T>G | CA345970422 | APOB | c.12820A>C (p.Lys4274Gln) c.5870-3329A>C (n.5870-3329A>C) | |
2 | g.21002602T= | CA2493473056 | APOB | c.12820A= (p.Lys4274=) c.5870-3329A= (n.5870-3329A=) | |
2 | g.21002603C>A | CA345970423 | APOB | c.12819G>T (p.Leu4273Phe) c.5870-3330G>T (n.5870-3330G>T) | |
2 | g.21002603C>G | CA345970424 | APOB | c.12819G>C (p.Leu4273Phe) c.5870-3330G>C (n.5870-3330G>C) | |
2 | g.21002603C>T | CA425342472 | APOB | c.12819G>A (p.Leu4273=) c.5870-3330G>A (n.5870-3330G>A) | ClinVar COSMIC |
2 | g.21002604A>C | CA345970425 | APOB | c.12818T>G (p.Leu4273Trp) c.5870-3331T>G (n.5870-3331T>G) | gnomAD v4 |
2 | g.21002604A>G | CA345970426 | APOB | c.12818T>C (p.Leu4273Ser) c.5870-3331T>C (n.5870-3331T>C) | |
2 | g.21002604A>T | CA345970427 | APOB | c.12818T>A (p.Leu4273Ter) c.5870-3331T>A (n.5870-3331T>A) | |
2 | g.21002605A= | CA2493473057 | APOB | c.12817T= (p.Leu4273=) c.5870-3332T= (n.5870-3332T=) | |
2 | g.21002605A>C | CA345970428 | APOB | c.12817T>G (p.Leu4273Val) c.5870-3332T>G (n.5870-3332T>G) | |
2 | g.21002605A>G | CA425342476 | APOB | c.12817T>C (p.Leu4273=) c.5870-3332T>C (n.5870-3332T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21002605A>T | CA345970429 | APOB | c.12817T>A (p.Leu4273Met) c.5870-3332T>A (n.5870-3332T>A) | |
2 | g.21002606C>A | CA425342478 | APOB | c.12816G>T (p.Leu4272=) c.5870-3333G>T (n.5870-3333G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.21002606C= | CA2493473058 | APOB | c.12816G= (p.Leu4272=) c.5870-3333G= (n.5870-3333G=) | |
2 | g.21002606C>G | CA425342480 | APOB | c.12816G>C (p.Leu4272=) c.5870-3333G>C (n.5870-3333G>C) | |
2 | g.21002606C>T | CA425342483 | APOB | c.12816G>A (p.Leu4272=) c.5870-3333G>A (n.5870-3333G>A) | |
2 | g.21002607A>C | CA345970430 | APOB | c.12815T>G (p.Leu4272Arg) c.5870-3334T>G (n.5870-3334T>G) | |
2 | g.21002607A>G | CA345970431 | APOB | c.12815T>C (p.Leu4272Pro) c.5870-3334T>C (n.5870-3334T>C) | |
2 | g.21002607A>T | CA345970432 | APOB | c.12815T>A (p.Leu4272Gln) c.5870-3334T>A (n.5870-3334T>A) | |
2 | g.21002608G>A | CA425342484 | APOB | c.12814C>T (p.Leu4272=) c.5870-3335C>T (n.5870-3335C>T) | |
2 | g.21002608G>C | CA345970433 | APOB | c.12814C>G (p.Leu4272Val) c.5870-3335C>G (n.5870-3335C>G) | |
2 | g.21002608G>T | CA345970434 | APOB | c.12814C>A (p.Leu4272Met) c.5870-3335C>A (n.5870-3335C>A) | |
2 | g.21002609T>A | CA345970435 | APOB | c.12813A>T (p.Glu4271Asp) c.5870-3336A>T (n.5870-3336A>T) | |
2 | g.21002609T>C | CA425342486 | APOB | c.12813A>G (p.Glu4271=) c.5870-3336A>G (n.5870-3336A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21002609T>G | CA345970436 | APOB | c.12813A>C (p.Glu4271Asp) c.5870-3336A>C (n.5870-3336A>C) | |
2 | g.21002609T= | CA2493473059 | APOB | c.12813A= (p.Glu4271=) c.5870-3336A= (n.5870-3336A=) | |
2 | g.21002610T>A | CA345970439 | APOB | c.12812A>T (p.Glu4271Val) c.5870-3337A>T (n.5870-3337A>T) | |
2 | g.21002610T>C | CA345970438 | APOB | c.12812A>G (p.Glu4271Gly) c.5870-3337A>G (n.5870-3337A>G) | |
2 | g.21002610T>G | CA345970437 | APOB | c.12812A>C (p.Glu4271Ala) c.5870-3337A>C (n.5870-3337A>C) | |
2 | g.21002611C>A | CA345970440 | APOB | c.12811G>T (p.Glu4271Ter) c.5870-3338G>T (n.5870-3338G>T) | |
2 | g.21002611C= | CA2493473060 | APOB | c.12811G= (p.Glu4271=) c.5870-3338G= (n.5870-3338G=) | |
2 | g.21002611C>G | CA051272 | APOB | c.12811G>C (p.Glu4271Gln) c.5870-3338G>C (n.5870-3338G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002611C>T | CA345970441 | APOB | c.12811G>A (p.Glu4271Lys) c.5870-3338G>A (n.5870-3338G>A) | gnomAD v4 COSMIC |
2 | g.21002612C>A | CA345970442 | APOB | c.12810G>T (p.Arg4270Ser) c.5870-3339G>T (n.5870-3339G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21002612C= | CA2493473061 | APOB | c.12810G= (p.Arg4270=) c.5870-3339G= (n.5870-3339G=) | |
2 | g.21002612C>G | CA345970443 | APOB | c.12810G>C (p.Arg4270Ser) c.5870-3339G>C (n.5870-3339G>C) | |
2 | g.21002612C>T | CA051262 | APOB | c.12810G>A (p.Arg4270=) c.5870-3339G>A (n.5870-3339G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21002613C>A | CA345970444 | APOB | c.12809G>T (p.Arg4270Met) c.5870-3340G>T (n.5870-3340G>T) | |
2 | g.21002613C= | CA2493473062 | APOB | c.12809G= (p.Arg4270=) c.5870-3340G= (n.5870-3340G=) | |
2 | g.21002613C>G | CA051239 | APOB | c.12809G>C (p.Arg4270Thr) c.5870-3340G>C (n.5870-3340G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002613C>T | CA051226 | APOB | c.12809G>A (p.Arg4270Lys) c.5870-3340G>A (n.5870-3340G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21002614T>A | CA345970445 | APOB | c.12808A>T (p.Arg4270Trp) c.5870-3341A>T (n.5870-3341A>T) | |
2 | g.21002614T>C | CA051215 | APOB | c.12808A>G (p.Arg4270Gly) c.5870-3341A>G (n.5870-3341A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21002614T>G | CA425342499 | APOB | c.12808A>C (p.Arg4270=) c.5870-3341A>C (n.5870-3341A>C) | |
2 | g.21002614T= | CA2493473063 | APOB | c.12808A= (p.Arg4270=) c.5870-3341A= (n.5870-3341A=) | |
2 | g.21002615A= | CA2493473064 | APOB | c.12807T= (p.Tyr4269=) c.5870-3342T= (n.5870-3342T=) | |
2 | g.21002615A>C | CA345970446 | APOB | c.12807T>G (p.Tyr4269Ter) c.5870-3342T>G (n.5870-3342T>G) | |
2 | g.21002615A>G | CA051203 | APOB | c.12807T>C (p.Tyr4269=) c.5870-3342T>C (n.5870-3342T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002615A>T | CA345970447 | APOB | c.12807T>A (p.Tyr4269Ter) c.5870-3342T>A (n.5870-3342T>A) | |
2 | g.21002616T>A | CA051196 | APOB | c.12806A>T (p.Tyr4269Phe) c.5870-3343A>T (n.5870-3343A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002616T>C | CA051182 | APOB | c.12806A>G (p.Tyr4269Cys) c.5870-3343A>G (n.5870-3343A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002616T>G | CA345970448 | APOB | c.12806A>C (p.Tyr4269Ser) c.5870-3343A>C (n.5870-3343A>C) | |
2 | g.21002616T= | CA2493473065 | APOB | c.12806A= (p.Tyr4269=) c.5870-3343A= (n.5870-3343A=) | |
2 | g.21002617A>C | CA345970449 | APOB | c.12805T>G (p.Tyr4269Asp) c.5870-3344T>G (n.5870-3344T>G) | |
2 | g.21002617A>G | CA345970450 | APOB | c.12805T>C (p.Tyr4269His) c.5870-3344T>C (n.5870-3344T>C) | |
2 | g.21002617A>T | CA345970451 | APOB | c.12805T>A (p.Tyr4269Asn) c.5870-3344T>A (n.5870-3344T>A) | |
2 | g.21002618C>A | CA345970452 | APOB | c.12804G>T (p.Met4268Ile) c.5870-3345G>T (n.5870-3345G>T) | |
2 | g.21002618C= | CA2493473066 | APOB | c.12804G= (p.Met4268=) c.5870-3345G= (n.5870-3345G=) | |
2 | g.21002618C>G | CA345970453 | APOB | c.12804G>C (p.Met4268Ile) c.5870-3345G>C (n.5870-3345G>C) | |
2 | g.21002618C>T | CA051172 | APOB | c.12804G>A (p.Met4268Ile) c.5870-3345G>A (n.5870-3345G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21002619A= | CA2493473067 | APOB | c.12803T= (p.Met4268=) c.5870-3346T= (n.5870-3346T=) | |
2 | g.21002619A>C | CA345970454 | APOB | c.12803T>G (p.Met4268Arg) c.5870-3346T>G (n.5870-3346T>G) | |
2 | g.21002619A>G | CA051163 | APOB | c.12803T>C (p.Met4268Thr) c.5870-3346T>C (n.5870-3346T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002619A>T | CA345970455 | APOB | c.12803T>A (p.Met4268Lys) c.5870-3346T>A (n.5870-3346T>A) | |
2 | g.21002620T>A | CA345970456 | APOB | c.12802A>T (p.Met4268Leu) c.5870-3347A>T (n.5870-3347A>T) | |
2 | g.21002620T>C | CA345970457 | APOB | c.12802A>G (p.Met4268Val) c.5870-3347A>G (n.5870-3347A>G) | gnomAD v4 |
2 | g.21002620T>G | CA345970458 | APOB | c.12802A>C (p.Met4268Leu) c.5870-3347A>C (n.5870-3347A>C) | |
2 | g.21002621C>A | CA425342504 | APOB | c.12801G>T (p.Ser4267=) c.5870-3348G>T (n.5870-3348G>T) | |
2 | g.21002621C= | CA2493473068 | APOB | c.12801G= (p.Ser4267=) c.5870-3348G= (n.5870-3348G=) | |
2 | g.21002621C>G | CA425342506 | APOB | c.12801G>C (p.Ser4267=) c.5870-3348G>C (n.5870-3348G>C) | |
2 | g.21002621C>T | CA051148 | APOB | c.12801G>A (p.Ser4267=) c.5870-3348G>A (n.5870-3348G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21002622G>A | CA43488551 | APOB | c.12800C>T (p.Ser4267Leu) c.5870-3349C>T (n.5870-3349C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002622G>C | CA345970460 | APOB | c.12800C>G (p.Ser4267Trp) c.5870-3349C>G (n.5870-3349C>G) | gnomAD v4 |
2 | g.21002622G= | CA2493473069 | APOB | c.12800C= (p.Ser4267=) c.5870-3349C= (n.5870-3349C=) | |
2 | g.21002622G>T | CA345970459 | APOB | c.12800C>A (p.Ser4267Ter) c.5870-3349C>A (n.5870-3349C>A) | |
2 | g.21002623A>C | CA345970461 | APOB | c.12799T>G (p.Ser4267Ala) c.5870-3350T>G (n.5870-3350T>G) | |
2 | g.21002623A>G | CA345970462 | APOB | c.12799T>C (p.Ser4267Pro) c.5870-3350T>C (n.5870-3350T>C) | |
2 | g.21002623A>T | CA345970463 | APOB | c.12799T>A (p.Ser4267Thr) c.5870-3350T>A (n.5870-3350T>A) | |
2 | g.21002624G>A | CA425342510 | APOB | c.12798C>T (p.Ile4266=) c.5870-3351C>T (n.5870-3351C>T) | dbSNP |
2 | g.21002624G>C | CA345970464 | APOB | c.12798C>G (p.Ile4266Met) c.5870-3351C>G (n.5870-3351C>G) | dbSNP COSMIC |
2 | g.21002624G= | CA2493473070 | APOB | c.12798C= (p.Ile4266=) c.5870-3351C= (n.5870-3351C=) | |
2 | g.21002624G>T | CA425342511 | APOB | c.12798C>A (p.Ile4266=) c.5870-3351C>A (n.5870-3351C>A) | gnomAD v4 COSMIC |
2 | g.21002625A>C | CA345970465 | APOB | c.12797T>G (p.Ile4266Ser) c.5870-3352T>G (n.5870-3352T>G) | |
2 | g.21002625A>G | CA345970466 | APOB | c.12797T>C (p.Ile4266Thr) c.5870-3352T>C (n.5870-3352T>C) | |
2 | g.21002625A>T | CA345970467 | APOB | c.12797T>A (p.Ile4266Asn) c.5870-3352T>A (n.5870-3352T>A) | |
2 | g.21002625dup | CA1546524 | APOB | c.12797dup (p.Ser4267LeufsTer4) c.5870-3352dup (n.5870-3352dup) | dbSNP ExAC gnomAD v2 |
2 | g.21002626T>A | CA345970468 | APOB | c.12796A>T (p.Ile4266Phe) c.5870-3353A>T (n.5870-3353A>T) | |
2 | g.21002626T>C | CA345970469 | APOB | c.12796A>G (p.Ile4266Val) c.5870-3353A>G (n.5870-3353A>G) | |
2 | g.21002626T>G | CA345970470 | APOB | c.12796A>C (p.Ile4266Leu) c.5870-3353A>C (n.5870-3353A>C) | |
2 | g.21002627T>A | CA425342225 | APOB | c.12795A>T (p.Val4265=) c.5870-3354A>T (n.5870-3354A>T) | |
2 | g.21002627T>C | CA425342227 | APOB | c.12795A>G (p.Val4265=) c.5870-3354A>G (n.5870-3354A>G) | |
2 | g.21002627T>G | CA425342228 | APOB | c.12795A>C (p.Val4265=) c.5870-3354A>C (n.5870-3354A>C) | |
2 | g.21002628A= | CA2493473071 | APOB | c.12794T= (p.Val4265=) c.5870-3355T= (n.5870-3355T=) | |
2 | g.21002628A>C | CA345970471 | APOB | c.12794T>G (p.Val4265Gly) c.5870-3355T>G (n.5870-3355T>G) | |
2 | g.21002628A>G | CA051139 | APOB | c.12794T>C (p.Val4265Ala) c.5870-3355T>C (n.5870-3355T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002628A>T | CA345970472 | APOB | c.12794T>A (p.Val4265Glu) c.5870-3355T>A (n.5870-3355T>A) | |
2 | g.21002629C>A | CA345970473 | APOB | c.12793G>T (p.Val4265Leu) c.5870-3356G>T (n.5870-3356G>T) | |
2 | g.21002629C= | CA2493473072 | APOB | c.12793G= (p.Val4265=) c.5870-3356G= (n.5870-3356G=) | |
2 | g.21002629C>G | CA345970474 | APOB | c.12793G>C (p.Val4265Leu) c.5870-3356G>C (n.5870-3356G>C) | |
2 | g.21002629C>T | CA051125 | APOB | c.12793G>A (p.Val4265Ile) c.5870-3356G>A (n.5870-3356G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002630A= | CA2493473073 | APOB | c.12792T= (p.Asp4264=) c.5870-3357T= (n.5870-3357T=) | |
2 | g.21002630A>C | CA345970475 | APOB | c.12792T>G (p.Asp4264Glu) c.5870-3357T>G (n.5870-3357T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002630A>G | CA425342235 | APOB | c.12792T>C (p.Asp4264=) c.5870-3357T>C (n.5870-3357T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21002630A>T | CA345970476 | APOB | c.12792T>A (p.Asp4264Glu) c.5870-3357T>A (n.5870-3357T>A) | COSMIC |
2 | g.21002631T>A | CA345970477 | APOB | c.12791A>T (p.Asp4264Val) c.5870-3358A>T (n.5870-3358A>T) | |
2 | g.21002631T>C | CA345970478 | APOB | c.12791A>G (p.Asp4264Gly) c.5870-3358A>G (n.5870-3358A>G) | gnomAD v4 |
2 | g.21002631T>G | CA345970479 | APOB | c.12791A>C (p.Asp4264Ala) c.5870-3358A>C (n.5870-3358A>C) | |
2 | g.21002632C>A | CA345970480 | APOB | c.12790G>T (p.Asp4264Tyr) c.5870-3359G>T (n.5870-3359G>T) | |
2 | g.21002632C= | CA2493473074 | APOB | c.12790G= (p.Asp4264=) c.5870-3359G= (n.5870-3359G=) | |
2 | g.21002632C>G | CA345970481 | APOB | c.12790G>C (p.Asp4264His) c.5870-3359G>C (n.5870-3359G>C) | |
2 | g.21002632C>T | CA051114 | APOB | c.12790G>A (p.Asp4264Asn) c.5870-3359G>A (n.5870-3359G>A) | dbSNP ExAC gnomAD v2 COSMIC |
2 | g.21002633T>A | CA425342240 | APOB | c.12789A>T (p.Ile4263=) c.5870-3360A>T (n.5870-3360A>T) | |
2 | g.21002633T>C | CA345970482 | APOB | c.12789A>G (p.Ile4263Met) c.5870-3360A>G (n.5870-3360A>G) | |
2 | g.21002633T>G | CA425342242 | APOB | c.12789A>C (p.Ile4263=) c.5870-3360A>C (n.5870-3360A>C) | |
2 | g.21002634A>C | CA345970483 | APOB | c.12788T>G (p.Ile4263Arg) c.5870-3361T>G (n.5870-3361T>G) | |
2 | g.21002634A>G | CA345970484 | APOB | c.12788T>C (p.Ile4263Thr) c.5870-3361T>C (n.5870-3361T>C) | |
2 | g.21002634A>T | CA345970485 | APOB | c.12788T>A (p.Ile4263Lys) c.5870-3361T>A (n.5870-3361T>A) | |
2 | g.21002635T>A | CA345970486 | APOB | c.12787A>T (p.Ile4263Leu) c.5870-3362A>T (n.5870-3362A>T) | |
2 | g.21002635T>C | CA051098 | APOB | c.12787A>G (p.Ile4263Val) c.5870-3362A>G (n.5870-3362A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21002635T>G | CA345970487 | APOB | c.12787A>C (p.Ile4263Leu) c.5870-3362A>C (n.5870-3362A>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.21002635T= | CA2493473075 | APOB | c.12787A= (p.Ile4263=) c.5870-3362A= (n.5870-3362A=) | |
2 | g.21002636del | CA2658054431 | APOB | c.12787del (p.Ile4263Ter) c.5870-3362del (n.5870-3362del) | gnomAD v4 |
2 | g.21002636T>A | CA425342245 | APOB | c.12786A>T (p.Leu4262=) c.5870-3363A>T (n.5870-3363A>T) | |
2 | g.21002636T>C | CA425342246 | APOB | c.12786A>G (p.Leu4262=) c.5870-3363A>G (n.5870-3363A>G) | |
2 | g.21002636T>G | CA425342248 | APOB | c.12786A>C (p.Leu4262=) c.5870-3363A>C (n.5870-3363A>C) | |
2 | g.21002637A>C | CA345970490 | APOB | c.12785T>G (p.Leu4262Arg) c.5870-3364T>G (n.5870-3364T>G) | |
2 | g.21002637A>G | CA345970488 | APOB | c.12785T>C (p.Leu4262Pro) c.5870-3364T>C (n.5870-3364T>C) | gnomAD v4 |
2 | g.21002637A>T | CA345970489 | APOB | c.12785T>A (p.Leu4262Gln) c.5870-3364T>A (n.5870-3364T>A) | |
2 | g.21002638G>A | CA051084 | APOB | c.12784C>T (p.Leu4262=) c.5870-3365C>T (n.5870-3365C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002638G>C | CA345970491 | APOB | c.12784C>G (p.Leu4262Val) c.5870-3365C>G (n.5870-3365C>G) | |
2 | g.21002638G= | CA2493473076 | APOB | c.12784C= (p.Leu4262=) c.5870-3365C= (n.5870-3365C=) | |
2 | g.21002638G>T | CA345970492 | APOB | c.12784C>A (p.Leu4262Ile) c.5870-3365C>A (n.5870-3365C>A) | |
2 | g.21002639T>A | CA345970493 | APOB | c.12783A>T (p.Lys4261Asn) c.5870-3366A>T (n.5870-3366A>T) | |
2 | g.21002639T>C | CA425342253 | APOB | c.12783A>G (p.Lys4261=) c.5870-3366A>G (n.5870-3366A>G) | dbSNP gnomAD v4 |
2 | g.21002639T>G | CA345970494 | APOB | c.12783A>C (p.Lys4261Asn) c.5870-3366A>C (n.5870-3366A>C) | |
2 | g.21002639T= | CA2493473077 | APOB | c.12783A= (p.Lys4261=) c.5870-3366A= (n.5870-3366A=) | |
2 | g.21002640T>A | CA345970495 | APOB | c.12782A>T (p.Lys4261Ile) c.5870-3367A>T (n.5870-3367A>T) | |
2 | g.21002640T>C | CA345970496 | APOB | c.12782A>G (p.Lys4261Arg) c.5870-3367A>G (n.5870-3367A>G) | COSMIC |
2 | g.21002640T>G | CA345970497 | APOB | c.12782A>C (p.Lys4261Thr) c.5870-3367A>C (n.5870-3367A>C) | |
2 | g.21002641T>A | CA345970498 | APOB | c.12781A>T (p.Lys4261Ter) c.5870-3368A>T (n.5870-3368A>T) | |
2 | g.21002641T>C | CA345970499 | APOB | c.12781A>G (p.Lys4261Glu) c.5870-3368A>G (n.5870-3368A>G) | |
2 | g.21002641T>G | CA345970500 | APOB | c.12781A>C (p.Lys4261Gln) c.5870-3368A>C (n.5870-3368A>C) | |
2 | g.21002642_21002643del | CA2658054432 | APOB | c.12780_12781del (p.His4260GlnfsTer10) c.5870-3369_5870-3368del (n.5870-3369_5870-3368del) | gnomAD v4 |
2 | g.21002642A= | CA2493473078 | APOB | c.12780T= (p.His4260=) c.5870-3369T= (n.5870-3369T=) | |
2 | g.21002642A>C | CA345970501 | APOB | c.12780T>G (p.His4260Gln) c.5870-3369T>G (n.5870-3369T>G) | |
2 | g.21002642A>G | CA425342259 | APOB | c.12780T>C (p.His4260=) c.5870-3369T>C (n.5870-3369T>C) | ClinVar dbSNP gnomAD v4 |
2 | g.21002642A>T | CA345970502 | APOB | c.12780T>A (p.His4260Gln) c.5870-3369T>A (n.5870-3369T>A) | |
2 | g.21002643T>A | CA345970503 | APOB | c.12779A>T (p.His4260Leu) c.5870-3370A>T (n.5870-3370A>T) | |
2 | g.21002643T>C | CA051072 | APOB | c.12779A>G (p.His4260Arg) c.5870-3370A>G (n.5870-3370A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002643T>G | CA345970504 | APOB | c.12779A>C (p.His4260Pro) c.5870-3370A>C (n.5870-3370A>C) | |
2 | g.21002643T= | CA2493473079 | APOB | c.12779A= (p.His4260=) c.5870-3370A= (n.5870-3370A=) | |
2 | g.21002644G>A | CA345970505 | APOB | c.12778C>T (p.His4260Tyr) c.5870-3371C>T (n.5870-3371C>T) | gnomAD v4 |
2 | g.21002644G>C | CA345970506 | APOB | c.12778C>G (p.His4260Asp) c.5870-3371C>G (n.5870-3371C>G) | |
2 | g.21002644G>T | CA345970507 | APOB | c.12778C>A (p.His4260Asn) c.5870-3371C>A (n.5870-3371C>A) | gnomAD v4 |
2 | g.21002645T>A | CA345970508 | APOB | c.12777A>T (p.Lys4259Asn) c.5870-3372A>T (n.5870-3372A>T) | |
2 | g.21002645T>C | CA425342263 | APOB | c.12777A>G (p.Lys4259=) c.5870-3372A>G (n.5870-3372A>G) | |
2 | g.21002645T>G | CA345970509 | APOB | c.12777A>C (p.Lys4259Asn) c.5870-3372A>C (n.5870-3372A>C) | gnomAD v4 |
2 | g.21002646T>A | CA345970510 | APOB | c.12776A>T (p.Lys4259Ile) c.5870-3373A>T (n.5870-3373A>T) | |
2 | g.21002646T>C | CA345970511 | APOB | c.12776A>G (p.Lys4259Arg) c.5870-3373A>G (n.5870-3373A>G) | gnomAD v4 |
2 | g.21002646T>G | CA345970512 | APOB | c.12776A>C (p.Lys4259Thr) c.5870-3373A>C (n.5870-3373A>C) | |
2 | g.21002647T>A | CA345970513 | APOB | c.12775A>T (p.Lys4259Ter) c.5870-3374A>T (n.5870-3374A>T) | |
2 | g.21002647T>C | CA345970514 | APOB | c.12775A>G (p.Lys4259Glu) c.5870-3374A>G (n.5870-3374A>G) | gnomAD v4 |
2 | g.21002647T>G | CA345970515 | APOB | c.12775A>C (p.Lys4259Gln) c.5870-3374A>C (n.5870-3374A>C) | |
2 | g.21002648C>A | CA345970516 | APOB | c.12774G>T (p.Arg4258Ser) c.5870-3375G>T (n.5870-3375G>T) | |
2 | g.21002648C>G | CA345970517 | APOB | c.12774G>C (p.Arg4258Ser) c.5870-3375G>C (n.5870-3375G>C) | |
2 | g.21002648C>T | CA425342270 | APOB | c.12774G>A (p.Arg4258=) c.5870-3375G>A (n.5870-3375G>A) | COSMIC |
2 | g.21002649C>A | CA345970519 | APOB | c.12773G>T (p.Arg4258Met) c.5870-3376G>T (n.5870-3376G>T) | |
2 | g.21002649C= | CA2493473080 | APOB | c.12773G= (p.Arg4258=) c.5870-3376G= (n.5870-3376G=) | |
2 | g.21002649C>G | CA345970518 | APOB | c.12773G>C (p.Arg4258Thr) c.5870-3376G>C (n.5870-3376G>C) | |
2 | g.21002649C>T | CA051062 | APOB | c.12773G>A (p.Arg4258Lys) c.5870-3376G>A (n.5870-3376G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21002650T>A | CA345970520 | APOB | c.12772A>T (p.Arg4258Trp) c.5870-3377A>T (n.5870-3377A>T) | |
2 | g.21002650T>C | CA345970521 | APOB | c.12772A>G (p.Arg4258Gly) c.5870-3377A>G (n.5870-3377A>G) | |
2 | g.21002650T>G | CA425342273 | APOB | c.12772A>C (p.Arg4258=) c.5870-3377A>C (n.5870-3377A>C) | |
2 | g.21002651T>A | CA345970522 | APOB | c.12771A>T (p.Leu4257Phe) c.5870-3378A>T (n.5870-3378A>T) | |
2 | g.21002651T>C | CA425342277 | APOB | c.12771A>G (p.Leu4257=) c.5870-3378A>G (n.5870-3378A>G) | |
2 | g.21002651T>G | CA345970523 | APOB | c.12771A>C (p.Leu4257Phe) c.5870-3378A>C (n.5870-3378A>C) | |
2 | g.21002652A= | CA2493473081 | APOB | c.12770T= (p.Leu4257=) c.5870-3379T= (n.5870-3379T=) | |
2 | g.21002652A>C | CA345970524 | APOB | c.12770T>G (p.Leu4257Ter) c.5870-3379T>G (n.5870-3379T>G) | |
2 | g.21002652A>G | CA051046 | APOB | c.12770T>C (p.Leu4257Ser) c.5870-3379T>C (n.5870-3379T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21002652A>T | CA345970525 | APOB | c.12770T>A (p.Leu4257Ter) c.5870-3379T>A (n.5870-3379T>A) | |
2 | g.21002653A>C | CA345970526 | APOB | c.12769T>G (p.Leu4257Val) c.5870-3380T>G (n.5870-3380T>G) | gnomAD v4 |
2 | g.21002653A>G | CA425342280 | APOB | c.12769T>C (p.Leu4257=) c.5870-3380T>C (n.5870-3380T>C) | |
2 | g.21002653A>T | CA345970527 | APOB | c.12769T>A (p.Leu4257Ile) c.5870-3380T>A (n.5870-3380T>A) | |
2 | g.21002654C>A | CA345970528 | APOB | c.12768G>T (p.Glu4256Asp) c.5870-3381G>T (n.5870-3381G>T) | |
2 | g.21002654C= | CA2493473082 | APOB | c.12768G= (p.Glu4256=) c.5870-3381G= (n.5870-3381G=) | |
2 | g.21002654C>G | CA345970529 | APOB | c.12768G>C (p.Glu4256Asp) c.5870-3381G>C (n.5870-3381G>C) | |
2 | g.21002654C>T | CA43488597 | APOB | c.12768G>A (p.Glu4256=) c.5870-3381G>A (n.5870-3381G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.21002655T>A | CA345970530 | APOB | c.12767A>T (p.Glu4256Val) c.5870-3382A>T (n.5870-3382A>T) | |
2 | g.21002655T>C | CA345970532 | APOB | c.12767A>G (p.Glu4256Gly) c.5870-3382A>G (n.5870-3382A>G) | gnomAD v4 |
2 | g.21002655T>G | CA345970531 | APOB | c.12767A>C (p.Glu4256Ala) c.5870-3382A>C (n.5870-3382A>C) | |
2 | g.21002656C>A | CA43488609 | APOB | c.12766G>T (p.Glu4256Ter) c.5870-3383G>T (n.5870-3383G>T) | dbSNP |
2 | g.21002656C= | CA2493473083 | APOB | c.12766G= (p.Glu4256=) c.5870-3383G= (n.5870-3383G=) | |
2 | g.21002656C>G | CA43488612 | APOB | c.12766G>C (p.Glu4256Gln) c.5870-3383G>C (n.5870-3383G>C) | ClinVar |
2 | g.21002656C>T | CA051037 | APOB | c.12766G>A (p.Glu4256Lys) c.5870-3383G>A (n.5870-3383G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.21002657G>A | CA051028 | APOB | c.12765C>T (p.Phe4255=) c.5870-3384C>T (n.5870-3384C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21002657G>C | CA345970534 | APOB | c.12765C>G (p.Phe4255Leu) c.5870-3384C>G (n.5870-3384C>G) | |
2 | g.21002657G= | CA2493473084 | APOB | c.12765C= (p.Phe4255=) c.5870-3384C= (n.5870-3384C=) | |
2 | g.21002657G>T | CA345970533 | APOB | c.12765C>A (p.Phe4255Leu) c.5870-3384C>A (n.5870-3384C>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21002658A>C | CA345970535 | APOB | c.12764T>G (p.Phe4255Cys) c.5870-3385T>G (n.5870-3385T>G) | |
2 | g.21002658A>G | CA345970536 | APOB | c.12764T>C (p.Phe4255Ser) c.5870-3385T>C (n.5870-3385T>C) | |
2 | g.21002658A>T | CA345970537 | APOB | c.12764T>A (p.Phe4255Tyr) c.5870-3385T>A (n.5870-3385T>A) | |
2 | g.21002659A>C | CA345970538 | APOB | c.12763T>G (p.Phe4255Val) c.5870-3386T>G (n.5870-3386T>G) | |
2 | g.21002659A>G | CA345970539 | APOB | c.12763T>C (p.Phe4255Leu) c.5870-3386T>C (n.5870-3386T>C) | |
2 | g.21002659A>T | CA345970540 | APOB | c.12763T>A (p.Phe4255Ile) c.5870-3386T>A (n.5870-3386T>A) | |
2 | g.21002660A>C | CA425342287 | APOB | c.12762T>G (p.Pro4254=) c.5870-3387T>G (n.5870-3387T>G) | |
2 | g.21002660A>G | CA425342289 | APOB | c.12762T>C (p.Pro4254=) c.5870-3387T>C (n.5870-3387T>C) | |
2 | g.21002660A>T | CA425342291 | APOB | c.12762T>A (p.Pro4254=) c.5870-3387T>A (n.5870-3387T>A) | |
2 | g.21002661G>A | CA051018 | APOB | c.12761C>T (p.Pro4254Leu) c.5870-3388C>T (n.5870-3388C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002661G>C | CA345970541 | APOB | c.12761C>G (p.Pro4254Arg) c.5870-3388C>G (n.5870-3388C>G) | |
2 | g.21002661G= | CA2493473085 | APOB | c.12761C= (p.Pro4254=) c.5870-3388C= (n.5870-3388C=) | |
2 | g.21002661G>T | CA345970542 | APOB | c.12761C>A (p.Pro4254His) c.5870-3388C>A (n.5870-3388C>A) | |
2 | g.21002662G>A | CA345970543 | APOB | c.12760C>T (p.Pro4254Ser) c.5870-3389C>T (n.5870-3389C>T) | gnomAD v4 COSMIC |
2 | g.21002662G>C | CA345970544 | APOB | c.12760C>G (p.Pro4254Ala) c.5870-3389C>G (n.5870-3389C>G) | |
2 | g.21002662G>T | CA345970545 | APOB | c.12760C>A (p.Pro4254Thr) c.5870-3389C>A (n.5870-3389C>A) | |
2 | g.21002663A>C | CA425342301 | APOB | c.12759T>G (p.Leu4253=) c.5870-3390T>G (n.5870-3390T>G) | |
2 | g.21002663A>G | CA425342299 | APOB | c.12759T>C (p.Leu4253=) c.5870-3390T>C (n.5870-3390T>C) | |
2 | g.21002663A>T | CA425342300 | APOB | c.12759T>A (p.Leu4253=) c.5870-3390T>A (n.5870-3390T>A) | |
2 | g.21002664A= | CA2493473086 | APOB | c.12758T= (p.Leu4253=) c.5870-3391T= (n.5870-3391T=) | |
2 | g.21002664A>C | CA345970547 | APOB | c.12758T>G (p.Leu4253Arg) c.5870-3391T>G (n.5870-3391T>G) | |
2 | g.21002664A>G | CA051009 | APOB | c.12758T>C (p.Leu4253Pro) c.5870-3391T>C (n.5870-3391T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21002664A>T | CA345970546 | APOB | c.12758T>A (p.Leu4253His) c.5870-3391T>A (n.5870-3391T>A) | |
2 | g.21002665G>A | CA345970548 | APOB | c.12757C>T (p.Leu4253Phe) c.5870-3392C>T (n.5870-3392C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002665G>C | CA345970549 | APOB | c.12757C>G (p.Leu4253Val) c.5870-3392C>G (n.5870-3392C>G) | |
2 | g.21002665G= | CA2493473087 | APOB | c.12757C= (p.Leu4253=) c.5870-3392C= (n.5870-3392C=) | |
2 | g.21002665G>T | CA345970550 | APOB | c.12757C>A (p.Leu4253Ile) c.5870-3392C>A (n.5870-3392C>A) | |
2 | g.21002666T>A | CA425342305 | APOB | c.12756A>T (p.Thr4252=) c.5870-3393A>T (n.5870-3393A>T) | |
2 | g.21002666T>C | CA425342306 | APOB | c.12756A>G (p.Thr4252=) c.5870-3393A>G (n.5870-3393A>G) | dbSNP gnomAD v4 |
2 | g.21002666T>G | CA425342307 | APOB | c.12756A>C (p.Thr4252=) c.5870-3393A>C (n.5870-3393A>C) | |
2 | g.21002666T= | CA2493473088 | APOB | c.12756A= (p.Thr4252=) c.5870-3393A= (n.5870-3393A=) | |
2 | g.21002667G>A | CA345970551 | APOB | c.12755C>T (p.Thr4252Ile) c.5870-3394C>T (n.5870-3394C>T) | |
2 | g.21002667G>C | CA345970552 | APOB | c.12755C>G (p.Thr4252Arg) c.5870-3394C>G (n.5870-3394C>G) | |
2 | g.21002667G>T | CA345970553 | APOB | c.12755C>A (p.Thr4252Lys) c.5870-3394C>A (n.5870-3394C>A) | |
2 | g.21002668T>A | CA345970554 | APOB | c.12754A>T (p.Thr4252Ser) c.5870-3395A>T (n.5870-3395A>T) | |
2 | g.21002668T>C | CA345970555 | APOB | c.12754A>G (p.Thr4252Ala) c.5870-3395A>G (n.5870-3395A>G) | |
2 | g.21002668T>G | CA345970556 | APOB | c.12754A>C (p.Thr4252Pro) c.5870-3395A>C (n.5870-3395A>C) | |
2 | g.21002669A>C | CA345970557 | APOB | c.12753T>G (p.Ile4251Met) c.5870-3396T>G (n.5870-3396T>G) | |
2 | g.21002669A>G | CA425342312 | APOB | c.12753T>C (p.Ile4251=) c.5870-3396T>C (n.5870-3396T>C) | |
2 | g.21002669A>T | CA425342313 | APOB | c.12753T>A (p.Ile4251=) c.5870-3396T>A (n.5870-3396T>A) | |
2 | g.21002670A>C | CA345970560 | APOB | c.12752T>G (p.Ile4251Ser) c.5870-3397T>G (n.5870-3397T>G) | |
2 | g.21002670A>G | CA345970559 | APOB | c.12752T>C (p.Ile4251Thr) c.5870-3397T>C (n.5870-3397T>C) | gnomAD v4 |
2 | g.21002670A>T | CA345970558 | APOB | c.12752T>A (p.Ile4251Asn) c.5870-3397T>A (n.5870-3397T>A) | |
2 | g.21002671T>A | CA345970561 | APOB | c.12751A>T (p.Ile4251Phe) c.5870-3398A>T (n.5870-3398A>T) | |
2 | g.21002671T>C | CA050994 | APOB | c.12751A>G (p.Ile4251Val) c.5870-3398A>G (n.5870-3398A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002671T>G | CA345970562 | APOB | c.12751A>C (p.Ile4251Leu) c.5870-3398A>C (n.5870-3398A>C) | |
2 | g.21002671T= | CA2493473089 | APOB | c.12751A= (p.Ile4251=) c.5870-3398A= (n.5870-3398A=) | |
2 | g.21002672C>A | CA425342318 | APOB | c.12750G>T (p.Val4250=) c.5870-3399G>T (n.5870-3399G>T) | |
2 | g.21002672C>G | CA425342319 | APOB | c.12750G>C (p.Val4250=) c.5870-3399G>C (n.5870-3399G>C) | |
2 | g.21002672C>T | CA425342320 | APOB | c.12750G>A (p.Val4250=) c.5870-3399G>A (n.5870-3399G>A) | gnomAD v4 |
2 | g.21002673A>C | CA345970563 | APOB | c.12749T>G (p.Val4250Gly) c.5870-3400T>G (n.5870-3400T>G) | |
2 | g.21002673A>G | CA345970564 | APOB | c.12749T>C (p.Val4250Ala) c.5870-3400T>C (n.5870-3400T>C) | |
2 | g.21002673A>T | CA345970565 | APOB | c.12749T>A (p.Val4250Glu) c.5870-3400T>A (n.5870-3400T>A) | |
2 | g.21002674C>A | CA345970566 | APOB | c.12748G>T (p.Val4250Leu) c.5870-3401G>T (n.5870-3401G>T) | |
2 | g.21002674C>G | CA345970567 | APOB | c.12748G>C (p.Val4250Leu) c.5870-3401G>C (n.5870-3401G>C) | |
2 | g.21002674C>T | CA345970568 | APOB | c.12748G>A (p.Val4250Met) c.5870-3401G>A (n.5870-3401G>A) | |
2 | g.21002675T>A | CA425342325 | APOB | c.12747A>T (p.Leu4249=) c.5870-3402A>T (n.5870-3402A>T) | |
2 | g.21002675T>C | CA425342326 | APOB | c.12747A>G (p.Leu4249=) c.5870-3402A>G (n.5870-3402A>G) | |
2 | g.21002675T>G | CA425342327 | APOB | c.12747A>C (p.Leu4249=) c.5870-3402A>C (n.5870-3402A>C) | |
2 | g.21002676del | CA2658054433 | APOB | c.12746del (p.Leu4249GlnfsTer2) c.5870-3403del (n.5870-3403del) | gnomAD v4 |
2 | g.21002676A= | CA2493473090 | APOB | c.12746T= (p.Leu4249=) c.5870-3403T= (n.5870-3403T=) | |
2 | g.21002676A>C | CA345970569 | APOB | c.12746T>G (p.Leu4249Arg) c.5870-3403T>G (n.5870-3403T>G) | |
2 | g.21002676A>G | CA43488642 | APOB | c.12746T>C (p.Leu4249Pro) c.5870-3403T>C (n.5870-3403T>C) | dbSNP |
2 | g.21002676A>T | CA345970570 | APOB | c.12746T>A (p.Leu4249Gln) c.5870-3403T>A (n.5870-3403T>A) | |
2 | g.21002677G>A | CA425342332 | APOB | c.12745C>T (p.Leu4249=) c.5870-3404C>T (n.5870-3404C>T) | gnomAD v4 |
2 | g.21002677G>C | CA345970571 | APOB | c.12745C>G (p.Leu4249Val) c.5870-3404C>G (n.5870-3404C>G) | |
2 | g.21002677G>T | CA345970572 | APOB | c.12745C>A (p.Leu4249Ile) c.5870-3404C>A (n.5870-3404C>A) | gnomAD v4 |
2 | g.21002678G>A | CA425342335 | APOB | c.12744C>T (p.Asp4248=) c.5870-3405C>T (n.5870-3405C>T) | ClinVar dbSNP |
2 | g.21002678G>C | CA345970573 | APOB | c.12744C>G (p.Asp4248Glu) c.5870-3405C>G (n.5870-3405C>G) | |
2 | g.21002678G= | CA2493473091 | APOB | c.12744C= (p.Asp4248=) c.5870-3405C= (n.5870-3405C=) | |
2 | g.21002678G>T | CA345970574 | APOB | c.12744C>A (p.Asp4248Glu) c.5870-3405C>A (n.5870-3405C>A) | |
2 | g.21002679T>A | CA345970575 | APOB | c.12743A>T (p.Asp4248Val) c.5870-3406A>T (n.5870-3406A>T) | |
2 | g.21002679T>C | CA345970576 | APOB | c.12743A>G (p.Asp4248Gly) c.5870-3406A>G (n.5870-3406A>G) | gnomAD v4 |
2 | g.21002679T>G | CA345970577 | APOB | c.12743A>C (p.Asp4248Ala) c.5870-3406A>C (n.5870-3406A>C) | |
2 | g.21002680C>A | CA345970578 | APOB | c.12742G>T (p.Asp4248Tyr) c.5870-3407G>T (n.5870-3407G>T) | |
2 | g.21002680C= | CA2493473092 | APOB | c.12742G= (p.Asp4248=) c.5870-3407G= (n.5870-3407G=) | |
2 | g.21002680C>G | CA345970579 | APOB | c.12742G>C (p.Asp4248His) c.5870-3407G>C (n.5870-3407G>C) | |
2 | g.21002680C>T | CA345970580 | APOB | c.12742G>A (p.Asp4248Asn) c.5870-3407G>A (n.5870-3407G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21002681T>A | CA345970581 | APOB | c.12741A>T (p.Gln4247His) c.5870-3408A>T (n.5870-3408A>T) | |
2 | g.21002681T>C | CA425342340 | APOB | c.12741A>G (p.Gln4247=) c.5870-3408A>G (n.5870-3408A>G) | dbSNP gnomAD v4 |
2 | g.21002681T>G | CA345970582 | APOB | c.12741A>C (p.Gln4247His) c.5870-3408A>C (n.5870-3408A>C) | COSMIC |
2 | g.21002681T= | CA2493473093 | APOB | c.12741A= (p.Gln4247=) c.5870-3408A= (n.5870-3408A=) | |
2 | g.21002682T>A | CA345970583 | APOB | c.12740A>T (p.Gln4247Leu) c.5870-3409A>T (n.5870-3409A>T) | |
2 | g.21002682T>C | CA345970584 | APOB | c.12740A>G (p.Gln4247Arg) c.5870-3409A>G (n.5870-3409A>G) | |
2 | g.21002682T>G | CA345970585 | APOB | c.12740A>C (p.Gln4247Pro) c.5870-3409A>C (n.5870-3409A>C) | |
2 | g.21002683G>A | CA43488656 | APOB | c.12739C>T (p.Gln4247Ter) c.5870-3410C>T (n.5870-3410C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002683G>C | CA345970587 | APOB | c.12739C>G (p.Gln4247Glu) c.5870-3410C>G (n.5870-3410C>G) | |
2 | g.21002683G= | CA2493473094 | APOB | c.12739C= (p.Gln4247=) c.5870-3410C= (n.5870-3410C=) | |
2 | g.21002683G>T | CA345970586 | APOB | c.12739C>A (p.Gln4247Lys) c.5870-3410C>A (n.5870-3410C>A) |