Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.21006707C>A | CA345987269 | APOB | c.10161G>T (p.Leu3387Phe) c.5869+4026G>T (n.5869+4026G>T) | |
2 | g.21006707C>G | CA345987267 | APOB | c.10161G>C (p.Leu3387Phe) c.5869+4026G>C (n.5869+4026G>C) | |
2 | g.21006707C>T | CA425343655 | APOB | c.10161G>A (p.Leu3387=) c.5869+4026G>A (n.5869+4026G>A) | |
2 | g.21006708A>C | CA345987272 | APOB | c.10160T>G (p.Leu3387Trp) c.5869+4025T>G (n.5869+4025T>G) | |
2 | g.21006708A>G | CA345987273 | APOB | c.10160T>C (p.Leu3387Ser) c.5869+4025T>C (n.5869+4025T>C) | |
2 | g.21006708A>T | CA345987275 | APOB | c.10160T>A (p.Leu3387Ter) c.5869+4025T>A (n.5869+4025T>A) | |
2 | g.21006709A= | CA2493474929 | APOB | c.10159T= (p.Leu3387=) c.5869+4024T= (n.5869+4024T=) | |
2 | g.21006709A>C | CA345987278 | APOB | c.10159T>G (p.Leu3387Val) c.5869+4024T>G (n.5869+4024T>G) | |
2 | g.21006709A>G | CA425343658 | APOB | c.10159T>C (p.Leu3387=) c.5869+4024T>C (n.5869+4024T>C) | dbSNP |
2 | g.21006709A>T | CA345987279 | APOB | c.10159T>A (p.Leu3387Met) c.5869+4024T>A (n.5869+4024T>A) | |
2 | g.21006710T>A | CA345987283 | APOB | c.10158A>T (p.Arg3386Ser) c.5869+4023A>T (n.5869+4023A>T) | |
2 | g.21006710T>C | CA425343660 | APOB | c.10158A>G (p.Arg3386=) c.5869+4023A>G (n.5869+4023A>G) | |
2 | g.21006710T>G | CA345987284 | APOB | c.10158A>C (p.Arg3386Ser) c.5869+4023A>C (n.5869+4023A>C) | |
2 | g.21006711C>A | CA345987286 | APOB | c.10157G>T (p.Arg3386Ile) c.5869+4022G>T (n.5869+4022G>T) | |
2 | g.21006711C>G | CA345987287 | APOB | c.10157G>C (p.Arg3386Thr) c.5869+4022G>C (n.5869+4022G>C) | |
2 | g.21006711C>T | CA345987289 | APOB | c.10157G>A (p.Arg3386Lys) c.5869+4022G>A (n.5869+4022G>A) | ClinVar dbSNP |
2 | g.21006712T>A | CA345987291 | APOB | c.10156A>T (p.Arg3386Ter) c.5869+4021A>T (n.5869+4021A>T) | |
2 | g.21006712T>C | CA345987293 | APOB | c.10156A>G (p.Arg3386Gly) c.5869+4021A>G (n.5869+4021A>G) | |
2 | g.21006712T>G | CA425343662 | APOB | c.10156A>C (p.Arg3386=) c.5869+4021A>C (n.5869+4021A>C) | |
2 | g.21006713T>A | CA425343665 | APOB | c.10155A>T (p.Thr3385=) c.5869+4020A>T (n.5869+4020A>T) | gnomAD v4 |
2 | g.21006713T>C | CA425343664 | APOB | c.10155A>G (p.Thr3385=) c.5869+4020A>G (n.5869+4020A>G) | |
2 | g.21006713T>G | CA425343663 | APOB | c.10155A>C (p.Thr3385=) c.5869+4020A>C (n.5869+4020A>C) | |
2 | g.21006713_21006716delinsTGTG | CA2493474930 | APOB | c.10152_10155delinsCACA (p.Thr3384=) c.5869+4017_5869+4020delinsCACA (n.5869+4017_5869+4020delinsCACA) | |
2 | g.21006714G>A | CA345987299 | APOB | c.10154C>T (p.Thr3385Ile) c.5869+4019C>T (n.5869+4019C>T) | gnomAD v4 |
2 | g.21006714G>C | CA345987296 | APOB | c.10154C>G (p.Thr3385Arg) c.5869+4019C>G (n.5869+4019C>G) | COSMIC |
2 | g.21006714G= | CA2493474931 | APOB | c.10154C= (p.Thr3385=) c.5869+4019C= (n.5869+4019C=) | |
2 | g.21006714G>T | CA345987297 | APOB | c.10154C>A (p.Thr3385Lys) c.5869+4019C>A (n.5869+4019C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21006717_21006719del | CA1028204386 | APOB | c.10152_10154del (p.Thr3385del) c.5869+4017_5869+4019del (n.5869+4017_5869+4019del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21006715T>A | CA345987302 | APOB | c.10153A>T (p.Thr3385Ser) c.5869+4018A>T (n.5869+4018A>T) | |
2 | g.21006715T>C | CA43496397 | APOB | c.10153A>G (p.Thr3385Ala) c.5869+4018A>G (n.5869+4018A>G) | dbSNP |
2 | g.21006715T>G | CA345987304 | APOB | c.10153A>C (p.Thr3385Pro) c.5869+4018A>C (n.5869+4018A>C) | |
2 | g.21006715T= | CA2493474932 | APOB | c.10153A= (p.Thr3385=) c.5869+4018A= (n.5869+4018A=) | |
2 | g.21006716G>A | CA042573 | APOB | c.10152C>T (p.Thr3384=) c.5869+4017C>T (n.5869+4017C>T) | dbSNP ExAC |
2 | g.21006716G>C | CA425343670 | APOB | c.10152C>G (p.Thr3384=) c.5869+4017C>G (n.5869+4017C>G) | |
2 | g.21006716G= | CA2493474933 | APOB | c.10152C= (p.Thr3384=) c.5869+4017C= (n.5869+4017C=) | |
2 | g.21006716G>T | CA425343668 | APOB | c.10152C>A (p.Thr3384=) c.5869+4017C>A (n.5869+4017C>A) | |
2 | g.21006717G>A | CA345987308 | APOB | c.10151C>T (p.Thr3384Ile) c.5869+4016C>T (n.5869+4016C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21006717G>C | CA345987310 | APOB | c.10151C>G (p.Thr3384Ser) c.5869+4016C>G (n.5869+4016C>G) | |
2 | g.21006717G= | CA2493474934 | APOB | c.10151C= (p.Thr3384=) c.5869+4016C= (n.5869+4016C=) | |
2 | g.21006717G>T | CA345987312 | APOB | c.10151C>A (p.Thr3384Asn) c.5869+4016C>A (n.5869+4016C>A) | |
2 | g.21006718T>A | CA345987314 | APOB | c.10150A>T (p.Thr3384Ser) c.5869+4015A>T (n.5869+4015A>T) | |
2 | g.21006718T>C | CA345987316 | APOB | c.10150A>G (p.Thr3384Ala) c.5869+4015A>G (n.5869+4015A>G) | |
2 | g.21006718T>G | CA345987318 | APOB | c.10150A>C (p.Thr3384Pro) c.5869+4015A>C (n.5869+4015A>C) | |
2 | g.21006719G>A | CA425343673 | APOB | c.10149C>T (p.Gly3383=) c.5869+4014C>T (n.5869+4014C>T) | |
2 | g.21006719G>C | CA425343675 | APOB | c.10149C>G (p.Gly3383=) c.5869+4014C>G (n.5869+4014C>G) | |
2 | g.21006719G>T | CA425343677 | APOB | c.10149C>A (p.Gly3383=) c.5869+4014C>A (n.5869+4014C>A) | |
2 | g.21006720C>A | CA345987324 | APOB | c.10148G>T (p.Gly3383Val) c.5869+4013G>T (n.5869+4013G>T) | |
2 | g.21006720C>G | CA345987326 | APOB | c.10148G>C (p.Gly3383Ala) c.5869+4013G>C (n.5869+4013G>C) | |
2 | g.21006720C>T | CA345987327 | APOB | c.10148G>A (p.Gly3383Asp) c.5869+4013G>A (n.5869+4013G>A) | |
2 | g.21006721C>A | CA345987332 | APOB | c.10147G>T (p.Gly3383Cys) c.5869+4012G>T (n.5869+4012G>T) |