Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.21005155_21005156delinsTG | CA2493474274 | APOB | c.11712_11713delinsCA (p.Asn3904=) c.5869+5577_5869+5578delinsCA (n.5869+5577_5869+5578delinsCA) | |
2 | g.21005156del | CA022765 | APOB | c.11712del (p.Asn3904LysfsTer21) c.5869+5577del (n.5869+5577del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21005156G>A | CA425136061 | APOB | c.11712C>T (p.Asn3904=) c.5869+5577C>T (n.5869+5577C>T) | |
2 | g.21005156G>C | CA345977601 | APOB | c.11712C>G (p.Asn3904Lys) c.5869+5577C>G (n.5869+5577C>G) | |
2 | g.21005156G>T | CA345977602 | APOB | c.11712C>A (p.Asn3904Lys) c.5869+5577C>A (n.5869+5577C>A) | |
2 | g.21005157T>A | CA345977607 | APOB | c.11711A>T (p.Asn3904Ile) c.5869+5576A>T (n.5869+5576A>T) | dbSNP gnomAD v2 |
2 | g.21005157T>C | CA345977609 | APOB | c.11711A>G (p.Asn3904Ser) c.5869+5576A>G (n.5869+5576A>G) | |
2 | g.21005157T>G | CA345977610 | APOB | c.11711A>C (p.Asn3904Thr) c.5869+5576A>C (n.5869+5576A>C) | |
2 | g.21005157T= | CA2493474275 | APOB | c.11711A= (p.Asn3904=) c.5869+5576A= (n.5869+5576A=) | |
2 | g.21005158T>A | CA345977613 | APOB | c.11710A>T (p.Asn3904Tyr) c.5869+5575A>T (n.5869+5575A>T) | |
2 | g.21005158T>C | CA345977615 | APOB | c.11710A>G (p.Asn3904Asp) c.5869+5575A>G (n.5869+5575A>G) | |
2 | g.21005158T>G | CA345977617 | APOB | c.11710A>C (p.Asn3904His) c.5869+5575A>C (n.5869+5575A>C) | COSMIC |
2 | g.21005159T>A | CA345977618 | APOB | c.11709A>T (p.Lys3903Asn) c.5869+5574A>T (n.5869+5574A>T) | |
2 | g.21005159T>C | CA425136062 | APOB | c.11709A>G (p.Lys3903=) c.5869+5574A>G (n.5869+5574A>G) | |
2 | g.21005159T>G | CA345977619 | APOB | c.11709A>C (p.Lys3903Asn) c.5869+5574A>C (n.5869+5574A>C) | |
2 | g.21005160T>A | CA345977624 | APOB | c.11708A>T (p.Lys3903Ile) c.5869+5573A>T (n.5869+5573A>T) | |
2 | g.21005160T>C | CA345977623 | APOB | c.11708A>G (p.Lys3903Arg) c.5869+5573A>G (n.5869+5573A>G) | |
2 | g.21005160T>G | CA345977622 | APOB | c.11708A>C (p.Lys3903Thr) c.5869+5573A>C (n.5869+5573A>C) | |
2 | g.21005161T>A | CA345977628 | APOB | c.11707A>T (p.Lys3903Ter) c.5869+5572A>T (n.5869+5572A>T) | dbSNP |
2 | g.21005161T>C | CA345977629 | APOB | c.11707A>G (p.Lys3903Glu) c.5869+5572A>G (n.5869+5572A>G) | |
2 | g.21005161T>G | CA345977631 | APOB | c.11707A>C (p.Lys3903Gln) c.5869+5572A>C (n.5869+5572A>C) | |
2 | g.21005161T= | CA2493474276 | APOB | c.11707A= (p.Lys3903=) c.5869+5572A= (n.5869+5572A=) | |
2 | g.21005162C>A | CA345977634 | APOB | c.11706G>T (p.Leu3902Phe) c.5869+5571G>T (n.5869+5571G>T) | |
2 | g.21005162C>G | CA345977636 | APOB | c.11706G>C (p.Leu3902Phe) c.5869+5571G>C (n.5869+5571G>C) | |
2 | g.21005162C>T | CA425136063 | APOB | c.11706G>A (p.Leu3902=) c.5869+5571G>A (n.5869+5571G>A) | |
2 | g.21005163A= | CA2493474277 | APOB | c.11705T= (p.Leu3902=) c.5869+5570T= (n.5869+5570T=) | |
2 | g.21005163A>C | CA345977639 | APOB | c.11705T>G (p.Leu3902Trp) c.5869+5570T>G (n.5869+5570T>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21005163A>G | CA345977640 | APOB | c.11705T>C (p.Leu3902Ser) c.5869+5570T>C (n.5869+5570T>C) | |
2 | g.21005163A>T | CA345977642 | APOB | c.11705T>A (p.Leu3902Ter) c.5869+5570T>A (n.5869+5570T>A) | |
2 | g.21005164A>C | CA345977644 | APOB | c.11704T>G (p.Leu3902Val) c.5869+5569T>G (n.5869+5569T>G) | |
2 | g.21005164A>G | CA425136064 | APOB | c.11704T>C (p.Leu3902=) c.5869+5569T>C (n.5869+5569T>C) | |
2 | g.21005164A>T | CA345977645 | APOB | c.11704T>A (p.Leu3902Met) c.5869+5569T>A (n.5869+5569T>A) | |
2 | g.21005165A>C | CA345977647 | APOB | c.11703T>G (p.Ser3901Arg) c.5869+5568T>G (n.5869+5568T>G) | |
2 | g.21005165A>G | CA425136065 | APOB | c.11703T>C (p.Ser3901=) c.5869+5568T>C (n.5869+5568T>C) | |
2 | g.21005165A>T | CA345977648 | APOB | c.11703T>A (p.Ser3901Arg) c.5869+5568T>A (n.5869+5568T>A) | |
2 | g.21005166C>A | CA345977650 | APOB | c.11702G>T (p.Ser3901Ile) c.5869+5567G>T (n.5869+5567G>T) | |
2 | g.21005166C= | CA2493474278 | APOB | c.11702G= (p.Ser3901=) c.5869+5567G= (n.5869+5567G=) | |
2 | g.21005166C>G | CA345977652 | APOB | c.11702G>C (p.Ser3901Thr) c.5869+5567G>C (n.5869+5567G>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21005166C>T | CA345977653 | APOB | c.11702G>A (p.Ser3901Asn) c.5869+5567G>A (n.5869+5567G>A) | |
2 | g.21005167T>A | CA345977656 | APOB | c.11701A>T (p.Ser3901Cys) c.5869+5566A>T (n.5869+5566A>T) | |
2 | g.21005167T>C | CA345977659 | APOB | c.11701A>G (p.Ser3901Gly) c.5869+5566A>G (n.5869+5566A>G) | dbSNP |
2 | g.21005167T>G | CA345977658 | APOB | c.11701A>C (p.Ser3901Arg) c.5869+5566A>C (n.5869+5566A>C) | |
2 | g.21005167T= | CA2493474279 | APOB | c.11701A= (p.Ser3901=) c.5869+5566A= (n.5869+5566A=) | |
2 | g.21005168G>A | CA425136066 | APOB | c.11700C>T (p.Ala3900=) c.5869+5565C>T (n.5869+5565C>T) | dbSNP |
2 | g.21005168G>C | CA425136067 | APOB | c.11700C>G (p.Ala3900=) c.5869+5565C>G (n.5869+5565C>G) | |
2 | g.21005168G= | CA2493474280 | APOB | c.11700C= (p.Ala3900=) c.5869+5565C= (n.5869+5565C=) | |
2 | g.21005168G>T | CA425136068 | APOB | c.11700C>A (p.Ala3900=) c.5869+5565C>A (n.5869+5565C>A) | |
2 | g.21005169G>A | CA345977662 | APOB | c.11699C>T (p.Ala3900Val) c.5869+5564C>T (n.5869+5564C>T) | |
2 | g.21005169G>C | CA345977663 | APOB | c.11699C>G (p.Ala3900Gly) c.5869+5564C>G (n.5869+5564C>G) | dbSNP |
2 | g.21005169G>T | CA345977665 | APOB | c.11699C>A (p.Ala3900Asp) c.5869+5564C>A (n.5869+5564C>A) | gnomAD v4 |