| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.21009930_21009932delinsATG | CA2493476467 | APOB | c.6936_6938delinsCAT (p.Asp2312=) c.5869+801_5869+803delinsCAT (n.5869+801_5869+803delinsCAT) | |
| 2 | g.21009931_21009932delinsA | CA43504668 | APOB | c.6936_6937delinsT (p.Ile2313PhefsTer10) c.5869+801_5869+802delinsT (n.5869+801_5869+802delinsT) | dbSNP |
| 2 | g.21009931_21009932delinsCA | CA43504666 | APOB | c.6936_6937delinsTG (p.Ile2313Val) c.5869+801_5869+802delinsTG (n.5869+801_5869+802delinsTG) | ClinVar dbSNP |
| 2 | g.21009931_21009932delinsTG | CA2493476468 | APOB | c.6936_6937delinsCA (p.Asp2312=) c.5869+801_5869+802delinsCA (n.5869+801_5869+802delinsCA) | |
| 2 | g.21009932G>A | CA022904 | APOB | c.6936C>T (p.Asp2312=) c.5869+801C>T (n.5869+801C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21009932G>C | CA346000190 | APOB | c.6936C>G (p.Asp2312Glu) c.5869+801C>G (n.5869+801C>G) | |
| 2 | g.21009932G= | CA2493476469 | APOB | c.6936C= (p.Asp2312=) c.5869+801C= (n.5869+801C=) | |
| 2 | g.21009932G>T | CA346000192 | APOB | c.6936C>A (p.Asp2312Glu) c.5869+801C>A (n.5869+801C>A) | |
| 2 | g.21009933T>A | CA346000194 | APOB | c.6935A>T (p.Asp2312Val) c.5869+800A>T (n.5869+800A>T) | |
| 2 | g.21009933T>C | CA346000196 | APOB | c.6935A>G (p.Asp2312Gly) c.5869+800A>G (n.5869+800A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21009933T>G | CA346000198 | APOB | c.6935A>C (p.Asp2312Ala) c.5869+800A>C (n.5869+800A>C) | |
| 2 | g.21009933T= | CA2493476470 | APOB | c.6935A= (p.Asp2312=) c.5869+800A= (n.5869+800A=) | |
| 2 | g.21009934C>A | CA346000200 | APOB | c.6934G>T (p.Asp2312Tyr) c.5869+799G>T (n.5869+799G>T) | gnomAD v4 |
| 2 | g.21009934C= | CA2493476471 | APOB | c.6934G= (p.Asp2312=) c.5869+799G= (n.5869+799G=) | |
| 2 | g.21009934C>G | CA346000203 | APOB | c.6934G>C (p.Asp2312His) c.5869+799G>C (n.5869+799G>C) | |
| 2 | g.21009934C>T | CA063818 | APOB | c.6934G>A (p.Asp2312Asn) c.5869+799G>A (n.5869+799G>A) | dbSNP ExAC gnomAD v2 COSMIC |
| 2 | g.21009935A= | CA2493476472 | APOB | c.6933T= (p.Asn2311=) c.5869+798T= (n.5869+798T=) | |
| 2 | g.21009935A>C | CA346000205 | APOB | c.6933T>G (p.Asn2311Lys) c.5869+798T>G (n.5869+798T>G) | |
| 2 | g.21009935A>G | CA063803 | APOB | c.6933T>C (p.Asn2311=) c.5869+798T>C (n.5869+798T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21009935A>T | CA346000208 | APOB | c.6933T>A (p.Asn2311Lys) c.5869+798T>A (n.5869+798T>A) | |
| 2 | g.21009936T>A | CA346000210 | APOB | c.6932A>T (p.Asn2311Ile) c.5869+797A>T (n.5869+797A>T) | |
| 2 | g.21009936T>C | CA346000212 | APOB | c.6932A>G (p.Asn2311Ser) c.5869+797A>G (n.5869+797A>G) | gnomAD v4 |
| 2 | g.21009936T>G | CA346000213 | APOB | c.6932A>C (p.Asn2311Thr) c.5869+797A>C (n.5869+797A>C) | |
| 2 | g.21009937T>A | CA346000215 | APOB | c.6931A>T (p.Asn2311Tyr) c.5869+796A>T (n.5869+796A>T) | |
| 2 | g.21009937T>C | CA346000217 | APOB | c.6931A>G (p.Asn2311Asp) c.5869+796A>G (n.5869+796A>G) | |
| 2 | g.21009937T>G | CA43504718 | APOB | c.6931A>C (p.Asn2311His) c.5869+796A>C (n.5869+796A>C) | dbSNP |
| 2 | g.21009937T= | CA2493476473 | APOB | c.6931A= (p.Asn2311=) c.5869+796A= (n.5869+796A=) | |
| 2 | g.21009938T>A | CA425345754 | APOB | c.6930A>T (p.Ile2310=) c.5869+795A>T (n.5869+795A>T) | |
| 2 | g.21009938T>C | CA43504723 | APOB | c.6930A>G (p.Ile2310Met) c.5869+795A>G (n.5869+795A>G) | dbSNP |
| 2 | g.21009938T>G | CA425345755 | APOB | c.6930A>C (p.Ile2310=) c.5869+795A>C (n.5869+795A>C) | gnomAD v4 |
| 2 | g.21009938T= | CA2493476474 | APOB | c.6930A= (p.Ile2310=) c.5869+795A= (n.5869+795A=) | |
| 2 | g.21009939A= | CA2493476475 | APOB | c.6929T= (p.Ile2310=) c.5869+794T= (n.5869+794T=) | |
| 2 | g.21009939A>C | CA346000223 | APOB | c.6929T>G (p.Ile2310Arg) c.5869+794T>G (n.5869+794T>G) | |
| 2 | g.21009939A>G | CA063773 | APOB | c.6929T>C (p.Ile2310Thr) c.5869+794T>C (n.5869+794T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21009939A>T | CA346000221 | APOB | c.6929T>A (p.Ile2310Lys) c.5869+794T>A (n.5869+794T>A) | |
| 2 | g.21009940T>A | CA346000228 | APOB | c.6928A>T (p.Ile2310Leu) c.5869+793A>T (n.5869+793A>T) | |
| 2 | g.21009940T>C | CA346000225 | APOB | c.6928A>G (p.Ile2310Val) c.5869+793A>G (n.5869+793A>G) | |
| 2 | g.21009940T>G | CA346000227 | APOB | c.6928A>C (p.Ile2310Leu) c.5869+793A>C (n.5869+793A>C) | |
| 2 | g.21009941T>A | CA346000230 | APOB | c.6927A>T (p.Arg2309Ser) c.5869+792A>T (n.5869+792A>T) | |
| 2 | g.21009941T>C | CA063769 | APOB | c.6927A>G (p.Arg2309=) c.5869+792A>G (n.5869+792A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21009941T>G | CA346000233 | APOB | c.6927A>C (p.Arg2309Ser) c.5869+792A>C (n.5869+792A>C) | |
| 2 | g.21009941T= | CA2493476476 | APOB | c.6927A= (p.Arg2309=) c.5869+792A= (n.5869+792A=) | |
| 2 | g.21009942C>A | CA346000235 | APOB | c.6926G>T (p.Arg2309Ile) c.5869+791G>T (n.5869+791G>T) | |
| 2 | g.21009942C>G | CA346000236 | APOB | c.6926G>C (p.Arg2309Thr) c.5869+791G>C (n.5869+791G>C) | |
| 2 | g.21009942C>T | CA346000237 | APOB | c.6926G>A (p.Arg2309Lys) c.5869+791G>A (n.5869+791G>A) | |
| 2 | g.21009943T>A | CA346000239 | APOB | c.6925A>T (p.Arg2309Ter) c.5869+790A>T (n.5869+790A>T) | |
| 2 | g.21009943T>C | CA346000240 | APOB | c.6925A>G (p.Arg2309Gly) c.5869+790A>G (n.5869+790A>G) | |
| 2 | g.21009943T>G | CA425345762 | APOB | c.6925A>C (p.Arg2309=) c.5869+790A>C (n.5869+790A>C) | |
| 2 | g.21009944T>A | CA346000242 | APOB | c.6924A>T (p.Glu2308Asp) c.5869+789A>T (n.5869+789A>T) | |
| 2 | g.21009944T>C | CA425345764 | APOB | c.6924A>G (p.Glu2308=) c.5869+789A>G (n.5869+789A>G) |