Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.21006581T>A | CA425343374 | APOB | c.10287A>T (p.Thr3429=) c.5869+4152A>T (n.5869+4152A>T) | |
2 | g.21006581T>C | CA425343371 | APOB | c.10287A>G (p.Thr3429=) c.5869+4152A>G (n.5869+4152A>G) | |
2 | g.21006581T>G | CA425343372 | APOB | c.10287A>C (p.Thr3429=) c.5869+4152A>C (n.5869+4152A>C) | |
2 | g.21006582G>A | CA345986865 | APOB | c.10286C>T (p.Thr3429Ile) c.5869+4151C>T (n.5869+4151C>T) | |
2 | g.21006582G>C | CA345986866 | APOB | c.10286C>G (p.Thr3429Arg) c.5869+4151C>G (n.5869+4151C>G) | |
2 | g.21006582G>T | CA345986867 | APOB | c.10286C>A (p.Thr3429Lys) c.5869+4151C>A (n.5869+4151C>A) | |
2 | g.21006582_21006583delinsGT | CA2493474861 | APOB | c.10285_10286delinsAC (p.Thr3429=) c.5869+4150_5869+4151delinsAC (n.5869+4150_5869+4151delinsAC) | |
2 | g.21006583del | CA916487991 | APOB | c.10285del (p.Thr3429GlnfsTer8) c.5869+4150del (n.5869+4150del) | dbSNP |
2 | g.21006583T>A | CA345986868 | APOB | c.10285A>T (p.Thr3429Ser) c.5869+4150A>T (n.5869+4150A>T) | |
2 | g.21006583T>C | CA345986869 | APOB | c.10285A>G (p.Thr3429Ala) c.5869+4150A>G (n.5869+4150A>G) | dbSNP |
2 | g.21006583T>G | CA345986870 | APOB | c.10285A>C (p.Thr3429Pro) c.5869+4150A>C (n.5869+4150A>C) | |
2 | g.21006584G>A | CA425343376 | APOB | c.10284C>T (p.Thr3428=) c.5869+4149C>T (n.5869+4149C>T) | |
2 | g.21006584G>C | CA425343377 | APOB | c.10284C>G (p.Thr3428=) c.5869+4149C>G (n.5869+4149C>G) | |
2 | g.21006584G= | CA2493474862 | APOB | c.10284C= (p.Thr3428=) c.5869+4149C= (n.5869+4149C=) | |
2 | g.21006584G>T | CA425343378 | APOB | c.10284C>A (p.Thr3428=) c.5869+4149C>A (n.5869+4149C>A) | |
2 | g.21006584_21006585insCA | CA916487992 | APOB | c.10283_10284insTG (p.Thr3429AlafsTer9) c.5869+4148_5869+4149insTG (n.5869+4148_5869+4149insTG) | dbSNP |
2 | g.21006585G>A | CA345986871 | APOB | c.10283C>T (p.Thr3428Ile) c.5869+4148C>T (n.5869+4148C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21006585G>C | CA345986872 | APOB | c.10283C>G (p.Thr3428Ser) c.5869+4148C>G (n.5869+4148C>G) | |
2 | g.21006585G= | CA2493474863 | APOB | c.10283C= (p.Thr3428=) c.5869+4148C= (n.5869+4148C=) | |
2 | g.21006585G>T | CA043011 | APOB | c.10283C>A (p.Thr3428Asn) c.5869+4148C>A (n.5869+4148C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21006586T>A | CA345986873 | APOB | c.10282A>T (p.Thr3428Ser) c.5869+4147A>T (n.5869+4147A>T) | dbSNP |
2 | g.21006586T>C | CA345986874 | APOB | c.10282A>G (p.Thr3428Ala) c.5869+4147A>G (n.5869+4147A>G) | |
2 | g.21006586T>G | CA345986875 | APOB | c.10282A>C (p.Thr3428Pro) c.5869+4147A>C (n.5869+4147A>C) | |
2 | g.21006586T= | CA2493474864 | APOB | c.10282A= (p.Thr3428=) c.5869+4147A= (n.5869+4147A=) | |
2 | g.21006587T>A | CA425343381 | APOB | c.10281A>T (p.Thr3427=) c.5869+4146A>T (n.5869+4146A>T) | |
2 | g.21006587T>C | CA425343383 | APOB | c.10281A>G (p.Thr3427=) c.5869+4146A>G (n.5869+4146A>G) | |
2 | g.21006587T>G | CA425343382 | APOB | c.10281A>C (p.Thr3427=) c.5869+4146A>C (n.5869+4146A>C) | |
2 | g.21006588G>A | CA345986876 | APOB | c.10280C>T (p.Thr3427Ile) c.5869+4145C>T (n.5869+4145C>T) | |
2 | g.21006588G>C | CA345986877 | APOB | c.10280C>G (p.Thr3427Arg) c.5869+4145C>G (n.5869+4145C>G) | |
2 | g.21006588G= | CA2493474865 | APOB | c.10280C= (p.Thr3427=) c.5869+4145C= (n.5869+4145C=) | |
2 | g.21006588G>T | CA43496136 | APOB | c.10280C>A (p.Thr3427Lys) c.5869+4145C>A (n.5869+4145C>A) | dbSNP |
2 | g.21006589T>A | CA345986878 | APOB | c.10279A>T (p.Thr3427Ser) c.5869+4144A>T (n.5869+4144A>T) | |
2 | g.21006589T>C | CA345986880 | APOB | c.10279A>G (p.Thr3427Ala) c.5869+4144A>G (n.5869+4144A>G) | |
2 | g.21006589T>G | CA345986879 | APOB | c.10279A>C (p.Thr3427Pro) c.5869+4144A>C (n.5869+4144A>C) | |
2 | g.21006590T>A | CA425343390 | APOB | c.10278A>T (p.Ala3426=) c.5869+4143A>T (n.5869+4143A>T) | |
2 | g.21006590T>C | CA425343391 | APOB | c.10278A>G (p.Ala3426=) c.5869+4143A>G (n.5869+4143A>G) | |
2 | g.21006590T>G | CA425343394 | APOB | c.10278A>C (p.Ala3426=) c.5869+4143A>C (n.5869+4143A>C) | |
2 | g.21006591G>A | CA345986881 | APOB | c.10277C>T (p.Ala3426Val) c.5869+4142C>T (n.5869+4142C>T) | |
2 | g.21006591G>C | CA345986882 | APOB | c.10277C>G (p.Ala3426Gly) c.5869+4142C>G (n.5869+4142C>G) | dbSNP |
2 | g.21006591G= | CA2493474866 | APOB | c.10277C= (p.Ala3426=) c.5869+4142C= (n.5869+4142C=) | |
2 | g.21006591G>T | CA43496140 | APOB | c.10277C>A (p.Ala3426Glu) c.5869+4142C>A (n.5869+4142C>A) | dbSNP |
2 | g.21006592C>A | CA345986883 | APOB | c.10276G>T (p.Ala3426Ser) c.5869+4141G>T (n.5869+4141G>T) | |
2 | g.21006592C= | CA2493474867 | APOB | c.10276G= (p.Ala3426=) c.5869+4141G= (n.5869+4141G=) | |
2 | g.21006592C>G | CA345986884 | APOB | c.10276G>C (p.Ala3426Pro) c.5869+4141G>C (n.5869+4141G>C) | |
2 | g.21006592C>T | CA042985 | APOB | c.10276G>A (p.Ala3426Thr) c.5869+4141G>A (n.5869+4141G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21006593C>A | CA425343396 | APOB | c.10275G>T (p.Val3425=) c.5869+4140G>T (n.5869+4140G>T) | gnomAD v4 |
2 | g.21006593C>G | CA425343398 | APOB | c.10275G>C (p.Val3425=) c.5869+4140G>C (n.5869+4140G>C) | |
2 | g.21006593C>T | CA425343397 | APOB | c.10275G>A (p.Val3425=) c.5869+4140G>A (n.5869+4140G>A) | |
2 | g.21006594A>C | CA345986885 | APOB | c.10274T>G (p.Val3425Gly) c.5869+4139T>G (n.5869+4139T>G) | |
2 | g.21006594A>G | CA345986886 | APOB | c.10274T>C (p.Val3425Ala) c.5869+4139T>C (n.5869+4139T>C) | gnomAD v4 |