Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.21002881C>A | CA050516 | APOB | c.12541G>T (p.Glu4181Ter) c.5870-3608G>T (n.5870-3608G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21002881C= | CA2493473178 | APOB | c.12541G= (p.Glu4181=) c.5870-3608G= (n.5870-3608G=) | |
2 | g.21002881C>G | CA345971020 | APOB | c.12541G>C (p.Glu4181Gln) c.5870-3608G>C (n.5870-3608G>C) | |
2 | g.21002881C>T | CA022778 | APOB | c.12541G>A (p.Glu4181Lys) c.5870-3608G>A (n.5870-3608G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002882T>A | CA345971021 | APOB | c.12540A>T (p.Gln4180His) c.5870-3609A>T (n.5870-3609A>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21002882T>C | CA425342699 | APOB | c.12540A>G (p.Gln4180=) c.5870-3609A>G (n.5870-3609A>G) | dbSNP |
2 | g.21002882T>G | CA345971022 | APOB | c.12540A>C (p.Gln4180His) c.5870-3609A>C (n.5870-3609A>C) | |
2 | g.21002882T= | CA2493473179 | APOB | c.12540A= (p.Gln4180=) c.5870-3609A= (n.5870-3609A=) | |
2 | g.21002883T>A | CA345971023 | APOB | c.12539A>T (p.Gln4180Leu) c.5870-3610A>T (n.5870-3610A>T) | |
2 | g.21002883T>C | CA345971024 | APOB | c.12539A>G (p.Gln4180Arg) c.5870-3610A>G (n.5870-3610A>G) | |
2 | g.21002883T>G | CA345971025 | APOB | c.12539A>C (p.Gln4180Pro) c.5870-3610A>C (n.5870-3610A>C) | |
2 | g.21002884G>A | CA43488872 | APOB | c.12538C>T (p.Gln4180Ter) c.5870-3611C>T (n.5870-3611C>T) | dbSNP |
2 | g.21002884G>C | CA345971026 | APOB | c.12538C>G (p.Gln4180Glu) c.5870-3611C>G (n.5870-3611C>G) | |
2 | g.21002884G= | CA2493473180 | APOB | c.12538C= (p.Gln4180=) c.5870-3611C= (n.5870-3611C=) | |
2 | g.21002884G>T | CA345971027 | APOB | c.12538C>A (p.Gln4180Lys) c.5870-3611C>A (n.5870-3611C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002885A>C | CA425342171 | APOB | c.12537T>G (p.Thr4179=) c.5870-3612T>G (n.5870-3612T>G) | |
2 | g.21002885A>G | CA425342170 | APOB | c.12537T>C (p.Thr4179=) c.5870-3612T>C (n.5870-3612T>C) | |
2 | g.21002885A>T | CA425342168 | APOB | c.12537T>A (p.Thr4179=) c.5870-3612T>A (n.5870-3612T>A) | |
2 | g.21002886G>A | CA050490 | APOB | c.12536C>T (p.Thr4179Ile) c.5870-3613C>T (n.5870-3613C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002886G>C | CA345971028 | APOB | c.12536C>G (p.Thr4179Ser) c.5870-3613C>G (n.5870-3613C>G) | |
2 | g.21002886G= | CA2493473181 | APOB | c.12536C= (p.Thr4179=) c.5870-3613C= (n.5870-3613C=) | |
2 | g.21002886G>T | CA345971029 | APOB | c.12536C>A (p.Thr4179Asn) c.5870-3613C>A (n.5870-3613C>A) | |
2 | g.21002887T>A | CA345971032 | APOB | c.12535A>T (p.Thr4179Ser) c.5870-3614A>T (n.5870-3614A>T) | gnomAD v4 |
2 | g.21002887T>C | CA345971031 | APOB | c.12535A>G (p.Thr4179Ala) c.5870-3614A>G (n.5870-3614A>G) | |
2 | g.21002887T>G | CA345971030 | APOB | c.12535A>C (p.Thr4179Pro) c.5870-3614A>C (n.5870-3614A>C) | |
2 | g.21002888A= | CA2493473182 | APOB | c.12534T= (p.Val4178=) c.5870-3615T= (n.5870-3615T=) | |
2 | g.21002888A>C | CA425342173 | APOB | c.12534T>G (p.Val4178=) c.5870-3615T>G (n.5870-3615T>G) | |
2 | g.21002888A>G | CA050477 | APOB | c.12534T>C (p.Val4178=) c.5870-3615T>C (n.5870-3615T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002888A>T | CA425342174 | APOB | c.12534T>A (p.Val4178=) c.5870-3615T>A (n.5870-3615T>A) | |
2 | g.21002889A= | CA2493473183 | APOB | c.12533T= (p.Val4178=) c.5870-3616T= (n.5870-3616T=) | |
2 | g.21002889A>C | CA345971033 | APOB | c.12533T>G (p.Val4178Gly) c.5870-3616T>G (n.5870-3616T>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.21002889A>G | CA345971034 | APOB | c.12533T>C (p.Val4178Ala) c.5870-3616T>C (n.5870-3616T>C) | |
2 | g.21002889A>T | CA345971035 | APOB | c.12533T>A (p.Val4178Asp) c.5870-3616T>A (n.5870-3616T>A) | |
2 | g.21002890C>A | CA345971036 | APOB | c.12532G>T (p.Val4178Phe) c.5870-3617G>T (n.5870-3617G>T) | |
2 | g.21002890C= | CA2493473184 | APOB | c.12532G= (p.Val4178=) c.5870-3617G= (n.5870-3617G=) | |
2 | g.21002890C>G | CA345971037 | APOB | c.12532G>C (p.Val4178Leu) c.5870-3617G>C (n.5870-3617G>C) | |
2 | g.21002890C>T | CA050468 | APOB | c.12532G>A (p.Val4178Ile) c.5870-3617G>A (n.5870-3617G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002891T>A | CA425342176 | APOB | c.12531A>T (p.Arg4177=) c.5870-3618A>T (n.5870-3618A>T) | |
2 | g.21002891T>C | CA425342177 | APOB | c.12531A>G (p.Arg4177=) c.5870-3618A>G (n.5870-3618A>G) | COSMIC |
2 | g.21002891T>G | CA425342179 | APOB | c.12531A>C (p.Arg4177=) c.5870-3618A>C (n.5870-3618A>C) | dbSNP |
2 | g.21002891T= | CA2493473185 | APOB | c.12531A= (p.Arg4177=) c.5870-3618A= (n.5870-3618A=) | |
2 | g.21002892C>A | CA345971038 | APOB | c.12530G>T (p.Arg4177Leu) c.5870-3619G>T (n.5870-3619G>T) | |
2 | g.21002892C= | CA2493473186 | APOB | c.12530G= (p.Arg4177=) c.5870-3619G= (n.5870-3619G=) | |
2 | g.21002892C>G | CA345971039 | APOB | c.12530G>C (p.Arg4177Pro) c.5870-3619G>C (n.5870-3619G>C) | |
2 | g.21002892C>T | CA345971040 | APOB | c.12530G>A (p.Arg4177Gln) c.5870-3619G>A (n.5870-3619G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.21002893G>A | CA050454 | APOB | c.12529C>T (p.Arg4177Ter) c.5870-3620C>T (n.5870-3620C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002893G>C | CA345971041 | APOB | c.12529C>G (p.Arg4177Gly) c.5870-3620C>G (n.5870-3620C>G) | |
2 | g.21002893G= | CA2493473187 | APOB | c.12529C= (p.Arg4177=) c.5870-3620C= (n.5870-3620C=) | |
2 | g.21002893G>T | CA425342180 | APOB | c.12529C>A (p.Arg4177=) c.5870-3620C>A (n.5870-3620C>A) | ClinVar dbSNP gnomAD v2 |
2 | g.21002894T>A | CA425342181 | APOB | c.12528A>T (p.Val4176=) c.5870-3621A>T (n.5870-3621A>T) |