Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.21007307T>A | CA425343878 | APOB | c.9561A>T (p.Thr3187=) c.5869+3426A>T (n.5869+3426A>T) | |
2 | g.21007307T>C | CA425343880 | APOB | c.9561A>G (p.Thr3187=) c.5869+3426A>G (n.5869+3426A>G) | |
2 | g.21007307T>G | CA425343881 | APOB | c.9561A>C (p.Thr3187=) c.5869+3426A>C (n.5869+3426A>C) | |
2 | g.21007308G>A | CA345989494 | APOB | c.9560C>T (p.Thr3187Ile) c.5869+3425C>T (n.5869+3425C>T) | |
2 | g.21007308G>C | CA345989495 | APOB | c.9560C>G (p.Thr3187Arg) c.5869+3425C>G (n.5869+3425C>G) | dbSNP COSMIC |
2 | g.21007308G= | CA2493475189 | APOB | c.9560C= (p.Thr3187=) c.5869+3425C= (n.5869+3425C=) | |
2 | g.21007308G>T | CA345989496 | APOB | c.9560C>A (p.Thr3187Lys) c.5869+3425C>A (n.5869+3425C>A) | gnomAD v4 |
2 | g.21007309T>A | CA345989497 | APOB | c.9559A>T (p.Thr3187Ser) c.5869+3424A>T (n.5869+3424A>T) | |
2 | g.21007309T>C | CA345989499 | APOB | c.9559A>G (p.Thr3187Ala) c.5869+3424A>G (n.5869+3424A>G) | |
2 | g.21007309T>G | CA345989498 | APOB | c.9559A>C (p.Thr3187Pro) c.5869+3424A>C (n.5869+3424A>C) | gnomAD v4 |
2 | g.21007310G>A | CA425343886 | APOB | c.9558C>T (p.Ile3186=) c.5869+3423C>T (n.5869+3423C>T) | |
2 | g.21007310G>C | CA345989500 | APOB | c.9558C>G (p.Ile3186Met) c.5869+3423C>G (n.5869+3423C>G) | |
2 | g.21007310G>T | CA425343888 | APOB | c.9558C>A (p.Ile3186=) c.5869+3423C>A (n.5869+3423C>A) | |
2 | g.21007311A>C | CA345989503 | APOB | c.9557T>G (p.Ile3186Ser) c.5869+3422T>G (n.5869+3422T>G) | |
2 | g.21007311A>G | CA345989501 | APOB | c.9557T>C (p.Ile3186Thr) c.5869+3422T>C (n.5869+3422T>C) | |
2 | g.21007311A>T | CA345989502 | APOB | c.9557T>A (p.Ile3186Asn) c.5869+3422T>A (n.5869+3422T>A) | |
2 | g.21007312T>A | CA345989504 | APOB | c.9556A>T (p.Ile3186Phe) c.5869+3421A>T (n.5869+3421A>T) | |
2 | g.21007312T>C | CA345989505 | APOB | c.9556A>G (p.Ile3186Val) c.5869+3421A>G (n.5869+3421A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21007312T>G | CA345989506 | APOB | c.9556A>C (p.Ile3186Leu) c.5869+3421A>C (n.5869+3421A>C) | |
2 | g.21007312T= | CA2493475190 | APOB | c.9556A= (p.Ile3186=) c.5869+3421A= (n.5869+3421A=) | |
2 | g.21007313G>A | CA43497196 | APOB | c.9555C>T (p.Ser3185=) c.5869+3420C>T (n.5869+3420C>T) | dbSNP |
2 | g.21007313G>C | CA425343893 | APOB | c.9555C>G (p.Ser3185=) c.5869+3420C>G (n.5869+3420C>G) | |
2 | g.21007313G= | CA2493475191 | APOB | c.9555C= (p.Ser3185=) c.5869+3420C= (n.5869+3420C=) | |
2 | g.21007313G>T | CA425343891 | APOB | c.9555C>A (p.Ser3185=) c.5869+3420C>A (n.5869+3420C>A) | |
2 | g.21007314G>A | CA43497212 | APOB | c.9554C>T (p.Ser3185Phe) c.5869+3419C>T (n.5869+3419C>T) | dbSNP |
2 | g.21007314G>C | CA345989507 | APOB | c.9554C>G (p.Ser3185Cys) c.5869+3419C>G (n.5869+3419C>G) | |
2 | g.21007314G= | CA2493475192 | APOB | c.9554C= (p.Ser3185=) c.5869+3419C= (n.5869+3419C=) | |
2 | g.21007314G>T | CA345989508 | APOB | c.9554C>A (p.Ser3185Tyr) c.5869+3419C>A (n.5869+3419C>A) | gnomAD v4 |
2 | g.21007315A>C | CA345989509 | APOB | c.9553T>G (p.Ser3185Ala) c.5869+3418T>G (n.5869+3418T>G) | |
2 | g.21007315A>G | CA345989510 | APOB | c.9553T>C (p.Ser3185Pro) c.5869+3418T>C (n.5869+3418T>C) | |
2 | g.21007315A>T | CA345989511 | APOB | c.9553T>A (p.Ser3185Thr) c.5869+3418T>A (n.5869+3418T>A) | |
2 | g.21007316A>C | CA345989512 | APOB | c.9552T>G (p.His3184Gln) c.5869+3417T>G (n.5869+3417T>G) | |
2 | g.21007316A>G | CA425343906 | APOB | c.9552T>C (p.His3184=) c.5869+3417T>C (n.5869+3417T>C) | |
2 | g.21007316A>T | CA345989513 | APOB | c.9552T>A (p.His3184Gln) c.5869+3417T>A (n.5869+3417T>A) | |
2 | g.21007317T>A | CA066667 | APOB | c.9551A>T (p.His3184Leu) c.5869+3416A>T (n.5869+3416A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21007317T>C | CA345989515 | APOB | c.9551A>G (p.His3184Arg) c.5869+3416A>G (n.5869+3416A>G) | |
2 | g.21007317T>G | CA345989514 | APOB | c.9551A>C (p.His3184Pro) c.5869+3416A>C (n.5869+3416A>C) | |
2 | g.21007317T= | CA2493475193 | APOB | c.9551A= (p.His3184=) c.5869+3416A= (n.5869+3416A=) | |
2 | g.21007318G>A | CA066663 | APOB | c.9550C>T (p.His3184Tyr) c.5869+3415C>T (n.5869+3415C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21007318G>C | CA345989516 | APOB | c.9550C>G (p.His3184Asp) c.5869+3415C>G (n.5869+3415C>G) | |
2 | g.21007318G= | CA2493475194 | APOB | c.9550C= (p.His3184=) c.5869+3415C= (n.5869+3415C=) | |
2 | g.21007318G>T | CA345989517 | APOB | c.9550C>A (p.His3184Asn) c.5869+3415C>A (n.5869+3415C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21007319C>A | CA066659 | APOB | c.9549G>T (p.Arg3183Ser) c.5869+3414G>T (n.5869+3414G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21007319C= | CA2493475195 | APOB | c.9549G= (p.Arg3183=) c.5869+3414G= (n.5869+3414G=) | |
2 | g.21007319C>G | CA345989518 | APOB | c.9549G>C (p.Arg3183Ser) c.5869+3414G>C (n.5869+3414G>C) | gnomAD v4 |
2 | g.21007319C>T | CA425343917 | APOB | c.9549G>A (p.Arg3183=) c.5869+3414G>A (n.5869+3414G>A) | |
2 | g.21007320C>A | CA345989519 | APOB | c.9548G>T (p.Arg3183Met) c.5869+3413G>T (n.5869+3413G>T) | |
2 | g.21007320C>G | CA345989520 | APOB | c.9548G>C (p.Arg3183Thr) c.5869+3413G>C (n.5869+3413G>C) | |
2 | g.21007320C>T | CA345989521 | APOB | c.9548G>A (p.Arg3183Lys) c.5869+3413G>A (n.5869+3413G>A) | |
2 | g.21007321T>A | CA345989522 | APOB | c.9547A>T (p.Arg3183Trp) c.5869+3412A>T (n.5869+3412A>T) |