Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.21005414A= | CA2493474310 | APOB | c.11454T= (p.Ser3818=) c.5869+5319T= (n.5869+5319T=) | |
2 | g.21005414A>C | CA425343017 | APOB | c.11454T>G (p.Ser3818=) c.5869+5319T>G (n.5869+5319T>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.21005414A>G | CA425343018 | APOB | c.11454T>C (p.Ser3818=) c.5869+5319T>C (n.5869+5319T>C) | |
2 | g.21005414A>T | CA425343019 | APOB | c.11454T>A (p.Ser3818=) c.5869+5319T>A (n.5869+5319T>A) | |
2 | g.21005415G>A | CA345978719 | APOB | c.11453C>T (p.Ser3818Phe) c.5869+5318C>T (n.5869+5318C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21005415G>C | CA345978716 | APOB | c.11453C>G (p.Ser3818Cys) c.5869+5318C>G (n.5869+5318C>G) | |
2 | g.21005415G= | CA2493474311 | APOB | c.11453C= (p.Ser3818=) c.5869+5318C= (n.5869+5318C=) | |
2 | g.21005415G>T | CA046646 | APOB | c.11453C>A (p.Ser3818Tyr) c.5869+5318C>A (n.5869+5318C>A) | ClinVar dbSNP ExAC gnomAD v2 |
2 | g.21005416A>C | CA345978724 | APOB | c.11452T>G (p.Ser3818Ala) c.5869+5317T>G (n.5869+5317T>G) | |
2 | g.21005416A>G | CA345978744 | APOB | c.11452T>C (p.Ser3818Pro) c.5869+5317T>C (n.5869+5317T>C) | |
2 | g.21005416A>T | CA345978745 | APOB | c.11452T>A (p.Ser3818Thr) c.5869+5317T>A (n.5869+5317T>A) | |
2 | g.21005417T>A | CA345978746 | APOB | c.11451A>T (p.Glu3817Asp) c.5869+5316A>T (n.5869+5316A>T) | |
2 | g.21005417T>C | CA425343022 | APOB | c.11451A>G (p.Glu3817=) c.5869+5316A>G (n.5869+5316A>G) | dbSNP gnomAD v4 |
2 | g.21005417T>G | CA345978748 | APOB | c.11451A>C (p.Glu3817Asp) c.5869+5316A>C (n.5869+5316A>C) | |
2 | g.21005417T= | CA2493474312 | APOB | c.11451A= (p.Glu3817=) c.5869+5316A= (n.5869+5316A=) | |
2 | g.21005418T>A | CA345978750 | APOB | c.11450A>T (p.Glu3817Val) c.5869+5315A>T (n.5869+5315A>T) | |
2 | g.21005418T>C | CA345978753 | APOB | c.11450A>G (p.Glu3817Gly) c.5869+5315A>G (n.5869+5315A>G) | |
2 | g.21005418T>G | CA345978755 | APOB | c.11450A>C (p.Glu3817Ala) c.5869+5315A>C (n.5869+5315A>C) | |
2 | g.21005419C>A | CA345978765 | APOB | c.11449G>T (p.Glu3817Ter) c.5869+5314G>T (n.5869+5314G>T) | |
2 | g.21005419C>G | CA345978766 | APOB | c.11449G>C (p.Glu3817Gln) c.5869+5314G>C (n.5869+5314G>C) | |
2 | g.21005419C>T | CA345978770 | APOB | c.11449G>A (p.Glu3817Lys) c.5869+5314G>A (n.5869+5314G>A) | |
2 | g.21005420A>C | CA425343024 | APOB | c.11448T>G (p.Pro3816=) c.5869+5313T>G (n.5869+5313T>G) | |
2 | g.21005420A>G | CA425343025 | APOB | c.11448T>C (p.Pro3816=) c.5869+5313T>C (n.5869+5313T>C) | |
2 | g.21005420A>T | CA425343026 | APOB | c.11448T>A (p.Pro3816=) c.5869+5313T>A (n.5869+5313T>A) | |
2 | g.21005421G>A | CA345978774 | APOB | c.11447C>T (p.Pro3816Leu) c.5869+5312C>T (n.5869+5312C>T) | |
2 | g.21005421G>C | CA345978777 | APOB | c.11447C>G (p.Pro3816Arg) c.5869+5312C>G (n.5869+5312C>G) | |
2 | g.21005421G>T | CA345978778 | APOB | c.11447C>A (p.Pro3816His) c.5869+5312C>A (n.5869+5312C>A) | |
2 | g.21005422G>A | CA345978781 | APOB | c.11446C>T (p.Pro3816Ser) c.5869+5311C>T (n.5869+5311C>T) | gnomAD v4 |
2 | g.21005422G>C | CA345978784 | APOB | c.11446C>G (p.Pro3816Ala) c.5869+5311C>G (n.5869+5311C>G) | gnomAD v4 |
2 | g.21005422G>T | CA345978779 | APOB | c.11446C>A (p.Pro3816Thr) c.5869+5311C>A (n.5869+5311C>A) | |
2 | g.21005423C>A | CA425343028 | APOB | c.11445G>T (p.Val3815=) c.5869+5310G>T (n.5869+5310G>T) | COSMIC |
2 | g.21005423C= | CA2493474313 | APOB | c.11445G= (p.Val3815=) c.5869+5310G= (n.5869+5310G=) | |
2 | g.21005423C>G | CA425343029 | APOB | c.11445G>C (p.Val3815=) c.5869+5310G>C (n.5869+5310G>C) | gnomAD v4 |
2 | g.21005423C>T | CA425343030 | APOB | c.11445G>A (p.Val3815=) c.5869+5310G>A (n.5869+5310G>A) | dbSNP |
2 | g.21005424A>C | CA345978790 | APOB | c.11444T>G (p.Val3815Gly) c.5869+5309T>G (n.5869+5309T>G) | |
2 | g.21005424A>G | CA345978799 | APOB | c.11444T>C (p.Val3815Ala) c.5869+5309T>C (n.5869+5309T>C) | |
2 | g.21005424A>T | CA345978803 | APOB | c.11444T>A (p.Val3815Glu) c.5869+5309T>A (n.5869+5309T>A) | |
2 | g.21005425C>A | CA43491785 | APOB | c.11443G>T (p.Val3815Leu) c.5869+5308G>T (n.5869+5308G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.21005425C= | CA2493474314 | APOB | c.11443G= (p.Val3815=) c.5869+5308G= (n.5869+5308G=) | |
2 | g.21005425C>G | CA345978819 | APOB | c.11443G>C (p.Val3815Leu) c.5869+5308G>C (n.5869+5308G>C) | |
2 | g.21005425C>T | CA046639 | APOB | c.11443G>A (p.Val3815Met) c.5869+5308G>A (n.5869+5308G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.21005426G>A | CA046627 | APOB | c.11442C>T (p.Thr3814=) c.5869+5307C>T (n.5869+5307C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21005426G>C | CA046610 | APOB | c.11442C>G (p.Thr3814=) c.5869+5307C>G (n.5869+5307C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21005426G= | CA2493474315 | APOB | c.11442C= (p.Thr3814=) c.5869+5307C= (n.5869+5307C=) | |
2 | g.21005426G>T | CA425343033 | APOB | c.11442C>A (p.Thr3814=) c.5869+5307C>A (n.5869+5307C>A) | ClinVar dbSNP |
2 | g.21005427G>A | CA345978827 | APOB | c.11441C>T (p.Thr3814Ile) c.5869+5306C>T (n.5869+5306C>T) | |
2 | g.21005427G>C | CA345978828 | APOB | c.11441C>G (p.Thr3814Ser) c.5869+5306C>G (n.5869+5306C>G) | |
2 | g.21005427G= | CA2493474316 | APOB | c.11441C= (p.Thr3814=) c.5869+5306C= (n.5869+5306C=) | |
2 | g.21005427G>T | CA046599 | APOB | c.11441C>A (p.Thr3814Asn) c.5869+5306C>A (n.5869+5306C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21005428T>A | CA345978839 | APOB | c.11440A>T (p.Thr3814Ser) c.5869+5305A>T (n.5869+5305A>T) |