| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.12131881C>A | CA383951397 | BCL2L14,LRP6 | c.3910G>T (p.Ala1304Ser) c.712-6955C>A (n.712-6955C>A) c.3504G>T n.231G>T c.3775G>T (p.Ala1259Ser) c.3457G>T (p.Ala1153Ser) n.4043G>T | |
| 12 | g.12131881C= | CA2016768290 | BCL2L14,LRP6 | c.3910G= (p.Ala1304=) c.712-6955C= (n.712-6955C=) c.3504G= n.231G= c.3775G= (p.Ala1259=) c.3457G= (p.Ala1153=) n.4043G= | |
| 12 | g.12131881C>G | CA383951399 | BCL2L14,LRP6 | c.3910G>C (p.Ala1304Pro) c.712-6955C>G (n.712-6955C>G) c.3504G>C n.231G>C c.3775G>C (p.Ala1259Pro) c.3457G>C (p.Ala1153Pro) n.4043G>C | |
| 12 | g.12131881C>T | CA6455092 | BCL2L14,LRP6 | c.3910G>A (p.Ala1304Thr) c.712-6955C>T (n.712-6955C>T) c.3504G>A n.231G>A c.3775G>A (p.Ala1259Thr) c.3457G>A (p.Ala1153Thr) n.4043G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.12131882A= | CA2016768291 | BCL2L14,LRP6 | c.3909T= (p.Gly1303=) c.712-6954A= (n.712-6954A=) c.3503T= n.230T= c.3774T= (p.Gly1258=) c.3456T= (p.Gly1152=) n.4042T= | |
| 12 | g.12131882A>C | CA478843742 | BCL2L14,LRP6 | c.3909T>G (p.Gly1303=) c.712-6954A>C (n.712-6954A>C) c.3503T>G n.230T>G c.3774T>G (p.Gly1258=) c.3456T>G (p.Gly1152=) n.4042T>G | |
| 12 | g.12131882A>G | CA478843743 | BCL2L14,LRP6 | c.3909T>C (p.Gly1303=) c.712-6954A>G (n.712-6954A>G) c.3503T>C n.230T>C c.3774T>C (p.Gly1258=) c.3456T>C (p.Gly1152=) n.4042T>C | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.12131882A>T | CA478843745 | BCL2L14,LRP6 | c.3909T>A (p.Gly1303=) c.712-6954A>T (n.712-6954A>T) c.3503T>A n.230T>A c.3774T>A (p.Gly1258=) c.3456T>A (p.Gly1152=) n.4042T>A | |
| 12 | g.12131883C>A | CA383951402 | BCL2L14,LRP6 | c.3908G>T (p.Gly1303Val) c.712-6953C>A (n.712-6953C>A) c.3502G>T n.229G>T c.3773G>T (p.Gly1258Val) c.3455G>T (p.Gly1152Val) n.4041G>T | |
| 12 | g.12131883C>G | CA383951405 | BCL2L14,LRP6 | c.3908G>C (p.Gly1303Ala) c.712-6953C>G (n.712-6953C>G) c.3502G>C n.229G>C c.3773G>C (p.Gly1258Ala) c.3455G>C (p.Gly1152Ala) n.4041G>C | |
| 12 | g.12131883C>T | CA383951407 | BCL2L14,LRP6 | c.3908G>A (p.Gly1303Asp) c.712-6953C>T (n.712-6953C>T) c.3502G>A n.229G>A c.3773G>A (p.Gly1258Asp) c.3455G>A (p.Gly1152Asp) n.4041G>A | |
| 12 | g.12131884C>A | CA383951409 | BCL2L14,LRP6 | c.3907G>T (p.Gly1303Cys) c.712-6952C>A (n.712-6952C>A) c.3501G>T n.228G>T c.3772G>T (p.Gly1258Cys) c.3454G>T (p.Gly1152Cys) n.4040G>T | |
| 12 | g.12131884C>G | CA383951413 | BCL2L14,LRP6 | c.3907G>C (p.Gly1303Arg) c.712-6952C>G (n.712-6952C>G) c.3501G>C n.228G>C c.3772G>C (p.Gly1258Arg) c.3454G>C (p.Gly1152Arg) n.4040G>C | |
| 12 | g.12131884C>T | CA383951411 | BCL2L14,LRP6 | c.3907G>A (p.Gly1303Ser) c.712-6952C>T (n.712-6952C>T) c.3501G>A n.228G>A c.3772G>A (p.Gly1258Ser) c.3454G>A (p.Gly1152Ser) n.4040G>A | |
| 12 | g.12131885A>C | CA383951414 | BCL2L14,LRP6 | c.3906T>G (p.Asp1302Glu) c.712-6951A>C (n.712-6951A>C) c.3500T>G n.227T>G c.3771T>G (p.Asp1257Glu) c.3453T>G (p.Asp1151Glu) n.4039T>G | |
| 12 | g.12131885A>G | CA478843748 | BCL2L14,LRP6 | c.3906T>C (p.Asp1302=) c.712-6951A>G (n.712-6951A>G) c.3500T>C n.227T>C c.3771T>C (p.Asp1257=) c.3453T>C (p.Asp1151=) n.4039T>C | |
| 12 | g.12131885A>T | CA383951416 | BCL2L14,LRP6 | c.3906T>A (p.Asp1302Glu) c.712-6951A>T (n.712-6951A>T) c.3500T>A n.227T>A c.3771T>A (p.Asp1257Glu) c.3453T>A (p.Asp1151Glu) n.4039T>A | |
| 12 | g.12131886T>A | CA383951418 | BCL2L14,LRP6 | c.3905A>T (p.Asp1302Val) c.712-6950T>A (n.712-6950T>A) c.3499A>T n.226A>T c.3770A>T (p.Asp1257Val) c.3452A>T (p.Asp1151Val) n.4038A>T | |
| 12 | g.12131886T>C | CA383951422 | BCL2L14,LRP6 | c.3905A>G (p.Asp1302Gly) c.712-6950T>C (n.712-6950T>C) c.3499A>G n.226A>G c.3770A>G (p.Asp1257Gly) c.3452A>G (p.Asp1151Gly) n.4038A>G | |
| 12 | g.12131886T>G | CA383951420 | BCL2L14,LRP6 | c.3905A>C (p.Asp1302Ala) c.712-6950T>G (n.712-6950T>G) c.3499A>C n.226A>C c.3770A>C (p.Asp1257Ala) c.3452A>C (p.Asp1151Ala) n.4038A>C | |
| 12 | g.12131887C>A | CA383951424 | BCL2L14,LRP6 | c.3904G>T (p.Asp1302Tyr) c.712-6949C>A (n.712-6949C>A) c.3498G>T n.225G>T c.3769G>T (p.Asp1257Tyr) c.3451G>T (p.Asp1151Tyr) n.4037G>T | |
| 12 | g.12131887C= | CA2016768292 | BCL2L14,LRP6 | c.3904G= (p.Asp1302=) c.712-6949C= (n.712-6949C=) c.3498G= n.225G= c.3769G= (p.Asp1257=) c.3451G= (p.Asp1151=) n.4037G= | |
| 12 | g.12131887C>G | CA383951427 | BCL2L14,LRP6 | c.3904G>C (p.Asp1302His) c.712-6949C>G (n.712-6949C>G) c.3498G>C n.225G>C c.3769G>C (p.Asp1257His) c.3451G>C (p.Asp1151His) n.4037G>C | |
| 12 | g.12131887C>T | CA383951425 | BCL2L14,LRP6 | c.3904G>A (p.Asp1302Asn) c.712-6949C>T (n.712-6949C>T) c.3498G>A n.225G>A c.3769G>A (p.Asp1257Asn) c.3451G>A (p.Asp1151Asn) n.4037G>A | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.12131888A>C | CA383951428 | BCL2L14,LRP6 | c.3903T>G (p.Ile1301Met) c.712-6948A>C (n.712-6948A>C) c.3497T>G n.224T>G c.3768T>G (p.Ile1256Met) c.3450T>G (p.Ile1150Met) n.4036T>G | |
| 12 | g.12131888A>G | CA478843756 | BCL2L14,LRP6 | c.3903T>C (p.Ile1301=) c.712-6948A>G (n.712-6948A>G) c.3497T>C n.224T>C c.3768T>C (p.Ile1256=) c.3450T>C (p.Ile1150=) n.4036T>C | |
| 12 | g.12131888A>T | CA478843755 | BCL2L14,LRP6 | c.3903T>A (p.Ile1301=) c.712-6948A>T (n.712-6948A>T) c.3497T>A n.224T>A c.3768T>A (p.Ile1256=) c.3450T>A (p.Ile1150=) n.4036T>A | |
| 12 | g.12131889A>C | CA383951433 | BCL2L14,LRP6 | c.3902T>G (p.Ile1301Ser) c.712-6947A>C (n.712-6947A>C) c.3496T>G n.223T>G c.3767T>G (p.Ile1256Ser) c.3449T>G (p.Ile1150Ser) n.4035T>G | |
| 12 | g.12131889A>G | CA383951430 | BCL2L14,LRP6 | c.3902T>C (p.Ile1301Thr) c.712-6947A>G (n.712-6947A>G) c.3496T>C n.223T>C c.3767T>C (p.Ile1256Thr) c.3449T>C (p.Ile1150Thr) n.4035T>C | gnomAD v4 |
| 12 | g.12131889A>T | CA383951431 | BCL2L14,LRP6 | c.3902T>A (p.Ile1301Asn) c.712-6947A>T (n.712-6947A>T) c.3496T>A n.223T>A c.3767T>A (p.Ile1256Asn) c.3449T>A (p.Ile1150Asn) n.4035T>A | |
| 12 | g.12131890T>A | CA383951435 | BCL2L14,LRP6 | c.3901A>T (p.Ile1301Phe) c.712-6946T>A (n.712-6946T>A) c.3495A>T n.222A>T c.3766A>T (p.Ile1256Phe) c.3448A>T (p.Ile1150Phe) n.4034A>T | |
| 12 | g.12131890T>C | CA6455093 | BCL2L14,LRP6 | c.3901A>G (p.Ile1301Val) c.712-6946T>C (n.712-6946T>C) c.3495A>G n.222A>G c.3766A>G (p.Ile1256Val) c.3448A>G (p.Ile1150Val) n.4034A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.12131890T>G | CA383951438 | BCL2L14,LRP6 | c.3901A>C (p.Ile1301Leu) c.712-6946T>G (n.712-6946T>G) c.3495A>C n.222A>C c.3766A>C (p.Ile1256Leu) c.3448A>C (p.Ile1150Leu) n.4034A>C | |
| 12 | g.12131890T= | CA2016768293 | BCL2L14,LRP6 | c.3901A= (p.Ile1301=) c.712-6946T= (n.712-6946T=) c.3495A= n.222A= c.3766A= (p.Ile1256=) c.3448A= (p.Ile1150=) n.4034A= | |
| 12 | g.12131891A>C | CA383951440 | BCL2L14,LRP6 | c.3900T>G (p.Cys1300Trp) c.712-6945A>C (n.712-6945A>C) c.3494T>G n.221T>G c.3765T>G (p.Cys1255Trp) c.3447T>G (p.Cys1149Trp) n.4033T>G | |
| 12 | g.12131891A>G | CA478843761 | BCL2L14,LRP6 | c.3900T>C (p.Cys1300=) c.712-6945A>G (n.712-6945A>G) c.3494T>C n.221T>C c.3765T>C (p.Cys1255=) c.3447T>C (p.Cys1149=) n.4033T>C | |
| 12 | g.12131891A>T | CA383951442 | BCL2L14,LRP6 | c.3900T>A (p.Cys1300Ter) c.712-6945A>T (n.712-6945A>T) c.3494T>A n.221T>A c.3765T>A (p.Cys1255Ter) c.3447T>A (p.Cys1149Ter) n.4033T>A | |
| 12 | g.12131892C>A | CA383951444 | BCL2L14,LRP6 | c.3899G>T (p.Cys1300Phe) c.712-6944C>A (n.712-6944C>A) c.3493G>T n.220G>T c.3764G>T (p.Cys1255Phe) c.3446G>T (p.Cys1149Phe) n.4032G>T | |
| 12 | g.12131892C>G | CA383951446 | BCL2L14,LRP6 | c.3899G>C (p.Cys1300Ser) c.712-6944C>G (n.712-6944C>G) c.3493G>C n.220G>C c.3764G>C (p.Cys1255Ser) c.3446G>C (p.Cys1149Ser) n.4032G>C | |
| 12 | g.12131892C>T | CA383951448 | BCL2L14,LRP6 | c.3899G>A (p.Cys1300Tyr) c.712-6944C>T (n.712-6944C>T) c.3493G>A n.220G>A c.3764G>A (p.Cys1255Tyr) c.3446G>A (p.Cys1149Tyr) n.4032G>A | |
| 12 | g.12131893del | CA2697559107 | BCL2L14,LRP6 | c.3898del (p.Cys1300ValfsTer28) c.712-6943del (n.712-6943del) c.3492del n.219del c.3763del (p.Cys1255ValfsTer28) c.3445del (p.Cys1149ValfsTer28) n.4031del | |
| 12 | g.12131893A>C | CA383951451 | BCL2L14,LRP6 | c.3898T>G (p.Cys1300Gly) c.712-6943A>C (n.712-6943A>C) c.3492T>G n.219T>G c.3763T>G (p.Cys1255Gly) c.3445T>G (p.Cys1149Gly) n.4031T>G | |
| 12 | g.12131893A>G | CA383951453 | BCL2L14,LRP6 | c.3898T>C (p.Cys1300Arg) c.712-6943A>G (n.712-6943A>G) c.3492T>C n.219T>C c.3763T>C (p.Cys1255Arg) c.3445T>C (p.Cys1149Arg) n.4031T>C | |
| 12 | g.12131893A>T | CA383951455 | BCL2L14,LRP6 | c.3898T>A (p.Cys1300Ser) c.712-6943A>T (n.712-6943A>T) c.3492T>A n.219T>A c.3763T>A (p.Cys1255Ser) c.3445T>A (p.Cys1149Ser) n.4031T>A | gnomAD v4 |
| 12 | g.12131894C>A | CA6455094 | BCL2L14,LRP6 | c.3897G>T (p.Gln1299His) c.712-6942C>A (n.712-6942C>A) c.3491G>T n.218G>T c.3762G>T (p.Gln1254His) c.3444G>T (p.Gln1148His) n.4030G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.12131894C= | CA2016768294 | BCL2L14,LRP6 | c.3897G= (p.Gln1299=) c.712-6942C= (n.712-6942C=) c.3491G= n.218G= c.3762G= (p.Gln1254=) c.3444G= (p.Gln1148=) n.4030G= | |
| 12 | g.12131894C>G | CA383951457 | BCL2L14,LRP6 | c.3897G>C (p.Gln1299His) c.712-6942C>G (n.712-6942C>G) c.3491G>C n.218G>C c.3762G>C (p.Gln1254His) c.3444G>C (p.Gln1148His) n.4030G>C | |
| 12 | g.12131894C>T | CA478843765 | BCL2L14,LRP6 | c.3897G>A (p.Gln1299=) c.712-6942C>T (n.712-6942C>T) c.3491G>A n.218G>A c.3762G>A (p.Gln1254=) c.3444G>A (p.Gln1148=) n.4030G>A | |
| 12 | g.12131895T>A | CA383951459 | BCL2L14,LRP6 | c.3896A>T (p.Gln1299Leu) c.712-6941T>A (n.712-6941T>A) c.3490A>T n.217A>T c.3761A>T (p.Gln1254Leu) c.3443A>T (p.Gln1148Leu) n.4029A>T | |
| 12 | g.12131895T>C | CA383951460 | BCL2L14,LRP6 | c.3896A>G (p.Gln1299Arg) c.712-6941T>C (n.712-6941T>C) c.3490A>G n.217A>G c.3761A>G (p.Gln1254Arg) c.3443A>G (p.Gln1148Arg) n.4029A>G | gnomAD v4 |