Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.21007291G>A | CA345989459 | APOB | c.9577C>T (p.Leu3193Phe) c.5869+3442C>T (n.5869+3442C>T) | gnomAD v4 COSMIC |
2 | g.21007291G>C | CA345989460 | APOB | c.9577C>G (p.Leu3193Val) c.5869+3442C>G (n.5869+3442C>G) | |
2 | g.21007291G>T | CA345989461 | APOB | c.9577C>A (p.Leu3193Ile) c.5869+3442C>A (n.5869+3442C>A) | |
2 | g.21007292C>A | CA425343824 | APOB | c.9576G>T (p.Val3192=) c.5869+3441G>T (n.5869+3441G>T) | |
2 | g.21007292C= | CA2493475183 | APOB | c.9576G= (p.Val3192=) c.5869+3441G= (n.5869+3441G=) | |
2 | g.21007292C>G | CA425343826 | APOB | c.9576G>C (p.Val3192=) c.5869+3441G>C (n.5869+3441G>C) | |
2 | g.21007292C>T | CA425343828 | APOB | c.9576G>A (p.Val3192=) c.5869+3441G>A (n.5869+3441G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.21007293A>C | CA345989462 | APOB | c.9575T>G (p.Val3192Gly) c.5869+3440T>G (n.5869+3440T>G) | |
2 | g.21007293A>G | CA345989463 | APOB | c.9575T>C (p.Val3192Ala) c.5869+3440T>C (n.5869+3440T>C) | |
2 | g.21007293A>T | CA345989464 | APOB | c.9575T>A (p.Val3192Glu) c.5869+3440T>A (n.5869+3440T>A) | |
2 | g.21007294C>A | CA066675 | APOB | c.9574G>T (p.Val3192Leu) c.5869+3439G>T (n.5869+3439G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21007294C= | CA2493475184 | APOB | c.9574G= (p.Val3192=) c.5869+3439G= (n.5869+3439G=) | |
2 | g.21007294C>G | CA345989465 | APOB | c.9574G>C (p.Val3192Leu) c.5869+3439G>C (n.5869+3439G>C) | gnomAD v4 |
2 | g.21007294C>T | CA345989466 | APOB | c.9574G>A (p.Val3192Met) c.5869+3439G>A (n.5869+3439G>A) | gnomAD v4 |
2 | g.21007295A= | CA2493475185 | APOB | c.9573T= (p.Ala3191=) c.5869+3438T= (n.5869+3438T=) | |
2 | g.21007295A>C | CA425343837 | APOB | c.9573T>G (p.Ala3191=) c.5869+3438T>G (n.5869+3438T>G) | gnomAD v4 |
2 | g.21007295A>G | CA425343839 | APOB | c.9573T>C (p.Ala3191=) c.5869+3438T>C (n.5869+3438T>C) | dbSNP |
2 | g.21007295A>T | CA425343840 | APOB | c.9573T>A (p.Ala3191=) c.5869+3438T>A (n.5869+3438T>A) | |
2 | g.21007296G>A | CA345989468 | APOB | c.9572C>T (p.Ala3191Val) c.5869+3437C>T (n.5869+3437C>T) | dbSNP COSMIC |
2 | g.21007296G>C | CA345989469 | APOB | c.9572C>G (p.Ala3191Gly) c.5869+3437C>G (n.5869+3437C>G) | |
2 | g.21007296G>T | CA345989467 | APOB | c.9572C>A (p.Ala3191Asp) c.5869+3437C>A (n.5869+3437C>A) | |
2 | g.21007297C>A | CA345989470 | APOB | c.9571G>T (p.Ala3191Ser) c.5869+3436G>T (n.5869+3436G>T) | ClinVar dbSNP gnomAD v4 |
2 | g.21007297C= | CA2493475186 | APOB | c.9571G= (p.Ala3191=) c.5869+3436G= (n.5869+3436G=) | |
2 | g.21007297C>G | CA345989471 | APOB | c.9571G>C (p.Ala3191Pro) c.5869+3436G>C (n.5869+3436G>C) | |
2 | g.21007297C>T | CA345989472 | APOB | c.9571G>A (p.Ala3191Thr) c.5869+3436G>A (n.5869+3436G>A) | |
2 | g.21007298C>A | CA345989473 | APOB | c.9570G>T (p.Leu3190Phe) c.5869+3435G>T (n.5869+3435G>T) | |
2 | g.21007298C= | CA2493475187 | APOB | c.9570G= (p.Leu3190=) c.5869+3435G= (n.5869+3435G=) | |
2 | g.21007298C>G | CA345989474 | APOB | c.9570G>C (p.Leu3190Phe) c.5869+3435G>C (n.5869+3435G>C) | |
2 | g.21007298C>T | CA066670 | APOB | c.9570G>A (p.Leu3190=) c.5869+3435G>A (n.5869+3435G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21007299A>C | CA345989477 | APOB | c.9569T>G (p.Leu3190Trp) c.5869+3434T>G (n.5869+3434T>G) | |
2 | g.21007299A>G | CA345989475 | APOB | c.9569T>C (p.Leu3190Ser) c.5869+3434T>C (n.5869+3434T>C) | |
2 | g.21007299A>T | CA345989476 | APOB | c.9569T>A (p.Leu3190Ter) c.5869+3434T>A (n.5869+3434T>A) | |
2 | g.21007300A>C | CA345989478 | APOB | c.9568T>G (p.Leu3190Val) c.5869+3433T>G (n.5869+3433T>G) | ClinVar gnomAD v4 |
2 | g.21007300A>G | CA425343856 | APOB | c.9568T>C (p.Leu3190=) c.5869+3433T>C (n.5869+3433T>C) | |
2 | g.21007300A>T | CA345989479 | APOB | c.9568T>A (p.Leu3190Met) c.5869+3433T>A (n.5869+3433T>A) | |
2 | g.21007301A>C | CA425343858 | APOB | c.9567T>G (p.Pro3189=) c.5869+3432T>G (n.5869+3432T>G) | |
2 | g.21007301A>G | CA425343860 | APOB | c.9567T>C (p.Pro3189=) c.5869+3432T>C (n.5869+3432T>C) | |
2 | g.21007301A>T | CA425343859 | APOB | c.9567T>A (p.Pro3189=) c.5869+3432T>A (n.5869+3432T>A) | |
2 | g.21007302G>A | CA345989480 | APOB | c.9566C>T (p.Pro3189Leu) c.5869+3431C>T (n.5869+3431C>T) | |
2 | g.21007302G>C | CA345989481 | APOB | c.9566C>G (p.Pro3189Arg) c.5869+3431C>G (n.5869+3431C>G) | |
2 | g.21007302G>T | CA345989482 | APOB | c.9566C>A (p.Pro3189His) c.5869+3431C>A (n.5869+3431C>A) | |
2 | g.21007303del | CA2658076735 | APOB | c.9566del (p.Pro3189LeufsTer28) c.5869+3431del (n.5869+3431del) | gnomAD v4 |
2 | g.21007303G>A | CA345989483 | APOB | c.9565C>T (p.Pro3189Ser) c.5869+3430C>T (n.5869+3430C>T) | COSMIC |
2 | g.21007303G>C | CA345989485 | APOB | c.9565C>G (p.Pro3189Ala) c.5869+3430C>G (n.5869+3430C>G) | |
2 | g.21007303G>T | CA345989484 | APOB | c.9565C>A (p.Pro3189Thr) c.5869+3430C>A (n.5869+3430C>A) | |
2 | g.21007304A= | CA2493475188 | APOB | c.9564T= (p.Asn3188=) c.5869+3429T= (n.5869+3429T=) | |
2 | g.21007304A>C | CA345989486 | APOB | c.9564T>G (p.Asn3188Lys) c.5869+3429T>G (n.5869+3429T>G) | |
2 | g.21007304A>G | CA425343869 | APOB | c.9564T>C (p.Asn3188=) c.5869+3429T>C (n.5869+3429T>C) | gnomAD v4 |
2 | g.21007304A>T | CA345989487 | APOB | c.9564T>A (p.Asn3188Lys) c.5869+3429T>A (n.5869+3429T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21007305T>A | CA345989488 | APOB | c.9563A>T (p.Asn3188Ile) c.5869+3428A>T (n.5869+3428A>T) |