Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.21007569T>A | CA345990606 | APOB | c.9299A>T (p.Gln3100Leu) c.5869+3164A>T (n.5869+3164A>T) | |
2 | g.21007569T>C | CA345990607 | APOB | c.9299A>G (p.Gln3100Arg) c.5869+3164A>G (n.5869+3164A>G) | gnomAD v4 |
2 | g.21007569T>G | CA345990608 | APOB | c.9299A>C (p.Gln3100Pro) c.5869+3164A>C (n.5869+3164A>C) | |
2 | g.21007570G>A | CA345990609 | APOB | c.9298C>T (p.Gln3100Ter) c.5869+3163C>T (n.5869+3163C>T) | |
2 | g.21007570G>C | CA066437 | APOB | c.9298C>G (p.Gln3100Glu) c.5869+3163C>G (n.5869+3163C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21007570G= | CA2493475326 | APOB | c.9298C= (p.Gln3100=) c.5869+3163C= (n.5869+3163C=) | |
2 | g.21007570G>T | CA066434 | APOB | c.9298C>A (p.Gln3100Lys) c.5869+3163C>A (n.5869+3163C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21007571G>A | CA425343931 | APOB | c.9297C>T (p.Asn3099=) c.5869+3162C>T (n.5869+3162C>T) | |
2 | g.21007571G>C | CA345990610 | APOB | c.9297C>G (p.Asn3099Lys) c.5869+3162C>G (n.5869+3162C>G) | |
2 | g.21007571G= | CA2493475327 | APOB | c.9297C= (p.Asn3099=) c.5869+3162C= (n.5869+3162C=) | |
2 | g.21007571G>T | CA345990611 | APOB | c.9297C>A (p.Asn3099Lys) c.5869+3162C>A (n.5869+3162C>A) | dbSNP gnomAD v4 |
2 | g.21007572T>A | CA345990612 | APOB | c.9296A>T (p.Asn3099Ile) c.5869+3161A>T (n.5869+3161A>T) | |
2 | g.21007572T>C | CA345990613 | APOB | c.9296A>G (p.Asn3099Ser) c.5869+3161A>G (n.5869+3161A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21007572T>G | CA345990614 | APOB | c.9296A>C (p.Asn3099Thr) c.5869+3161A>C (n.5869+3161A>C) | |
2 | g.21007572T= | CA2493475328 | APOB | c.9296A= (p.Asn3099=) c.5869+3161A= (n.5869+3161A=) | |
2 | g.21007573T>A | CA345990617 | APOB | c.9295A>T (p.Asn3099Tyr) c.5869+3160A>T (n.5869+3160A>T) | |
2 | g.21007573T>C | CA345990615 | APOB | c.9295A>G (p.Asn3099Asp) c.5869+3160A>G (n.5869+3160A>G) | |
2 | g.21007573T>G | CA345990616 | APOB | c.9295A>C (p.Asn3099His) c.5869+3160A>C (n.5869+3160A>C) | |
2 | g.21007574G>A | CA066431 | APOB | c.9294C>T (p.Tyr3098=) c.5869+3159C>T (n.5869+3159C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21007574G>C | CA345990618 | APOB | c.9294C>G (p.Tyr3098Ter) c.5869+3159C>G (n.5869+3159C>G) | |
2 | g.21007574G= | CA2493475329 | APOB | c.9294C= (p.Tyr3098=) c.5869+3159C= (n.5869+3159C=) | |
2 | g.21007574G>T | CA345990619 | APOB | c.9294C>A (p.Tyr3098Ter) c.5869+3159C>A (n.5869+3159C>A) | |
2 | g.21007575T>A | CA345990620 | APOB | c.9293A>T (p.Tyr3098Phe) c.5869+3158A>T (n.5869+3158A>T) | |
2 | g.21007575T>C | CA43497902 | APOB | c.9293A>G (p.Tyr3098Cys) c.5869+3158A>G (n.5869+3158A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21007575T>G | CA345990621 | APOB | c.9293A>C (p.Tyr3098Ser) c.5869+3158A>C (n.5869+3158A>C) | |
2 | g.21007575T= | CA2493475330 | APOB | c.9293A= (p.Tyr3098=) c.5869+3158A= (n.5869+3158A=) | |
2 | g.21007576A= | CA2493475331 | APOB | c.9292T= (p.Tyr3098=) c.5869+3157T= (n.5869+3157T=) | |
2 | g.21007576A>C | CA345990622 | APOB | c.9292T>G (p.Tyr3098Asp) c.5869+3157T>G (n.5869+3157T>G) | |
2 | g.21007576A>G | CA345990623 | APOB | c.9292T>C (p.Tyr3098His) c.5869+3157T>C (n.5869+3157T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21007576A>T | CA345990624 | APOB | c.9292T>A (p.Tyr3098Asn) c.5869+3157T>A (n.5869+3157T>A) | |
2 | g.21007577del | CA2740092726 | APOB | c.9291del (p.Lys3097AsnfsTer19) c.5869+3156del (n.5869+3156del) | ClinVar |
2 | g.21007577C>A | CA345990625 | APOB | c.9291G>T (p.Lys3097Asn) c.5869+3156G>T (n.5869+3156G>T) | |
2 | g.21007577C>G | CA345990626 | APOB | c.9291G>C (p.Lys3097Asn) c.5869+3156G>C (n.5869+3156G>C) | |
2 | g.21007577C>T | CA425343936 | APOB | c.9291G>A (p.Lys3097=) c.5869+3156G>A (n.5869+3156G>A) | |
2 | g.21007578T>A | CA345990628 | APOB | c.9290A>T (p.Lys3097Met) c.5869+3155A>T (n.5869+3155A>T) | |
2 | g.21007578T>C | CA345990629 | APOB | c.9290A>G (p.Lys3097Arg) c.5869+3155A>G (n.5869+3155A>G) | gnomAD v4 |
2 | g.21007578T>G | CA345990627 | APOB | c.9290A>C (p.Lys3097Thr) c.5869+3155A>C (n.5869+3155A>C) | COSMIC |
2 | g.21007579T>A | CA345990630 | APOB | c.9289A>T (p.Lys3097Ter) c.5869+3154A>T (n.5869+3154A>T) | |
2 | g.21007579T>C | CA345990631 | APOB | c.9289A>G (p.Lys3097Glu) c.5869+3154A>G (n.5869+3154A>G) | |
2 | g.21007579T>G | CA345990632 | APOB | c.9289A>C (p.Lys3097Gln) c.5869+3154A>C (n.5869+3154A>C) | |
2 | g.21007581_21007582dup | CA2658076740 | APOB | c.9288_9289dup (p.Lys3097IlefsTer20) c.5869+3153_5869+3154dup (n.5869+3153_5869+3154dup) | gnomAD v4 |
2 | g.21007580A>C | CA345990633 | APOB | c.9288T>G (p.Tyr3096Ter) c.5869+3153T>G (n.5869+3153T>G) | gnomAD v4 |
2 | g.21007580A>G | CA425343946 | APOB | c.9288T>C (p.Tyr3096=) c.5869+3153T>C (n.5869+3153T>C) | dbSNP gnomAD v4 |
2 | g.21007580A>T | CA345990634 | APOB | c.9288T>A (p.Tyr3096Ter) c.5869+3153T>A (n.5869+3153T>A) | |
2 | g.21007581del | CA2576686516 | APOB | c.9287del (p.Tyr3096LeufsTer20) c.5869+3152del (n.5869+3152del) | |
2 | g.21007581T>A | CA345990635 | APOB | c.9287A>T (p.Tyr3096Phe) c.5869+3152A>T (n.5869+3152A>T) | |
2 | g.21007581T>C | CA345990636 | APOB | c.9287A>G (p.Tyr3096Cys) c.5869+3152A>G (n.5869+3152A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21007581T>G | CA345990637 | APOB | c.9287A>C (p.Tyr3096Ser) c.5869+3152A>C (n.5869+3152A>C) | |
2 | g.21007581T= | CA2493475332 | APOB | c.9287A= (p.Tyr3096=) c.5869+3152A= (n.5869+3152A=) | |
2 | g.21007582A>C | CA345990638 | APOB | c.9286T>G (p.Tyr3096Asp) c.5869+3151T>G (n.5869+3151T>G) |