Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | ClinVar |
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 |
12 | g.12131895T>G | CA6455095 | BCL2L14,LRP6 | c.3896A>C (p.Gln1299Pro) c.712-6941T>G (n.712-6941T>G) c.3490A>C n.217A>C c.3761A>C (p.Gln1254Pro) c.3443A>C (p.Gln1148Pro) n.4029A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.12131895T= | CA2016768295 | BCL2L14,LRP6 | c.3896A= (p.Gln1299=) c.712-6941T= (n.712-6941T=) c.3490A= n.217A= c.3761A= (p.Gln1254=) c.3443A= (p.Gln1148=) n.4029A= | |
12 | g.12131896G>A | CA383951463 | BCL2L14,LRP6 | c.3895C>T (p.Gln1299Ter) c.712-6940G>A (n.712-6940G>A) c.3489C>T n.216C>T c.3760C>T (p.Gln1254Ter) c.3442C>T (p.Gln1148Ter) n.4028C>T | |
12 | g.12131896G>C | CA383951465 | BCL2L14,LRP6 | c.3895C>G (p.Gln1299Glu) c.712-6940G>C (n.712-6940G>C) c.3489C>G n.216C>G c.3760C>G (p.Gln1254Glu) c.3442C>G (p.Gln1148Glu) n.4028C>G | |
12 | g.12131896G>T | CA383951467 | BCL2L14,LRP6 | c.3895C>A (p.Gln1299Lys) c.712-6940G>T (n.712-6940G>T) c.3489C>A n.216C>A c.3760C>A (p.Gln1254Lys) c.3442C>A (p.Gln1148Lys) n.4028C>A | |
12 | g.12131897C>A | CA6455096 | BCL2L14,LRP6 | c.3894G>T (p.Gly1298=) c.712-6939C>A (n.712-6939C>A) c.3488G>T n.215G>T c.3759G>T (p.Gly1253=) c.3441G>T (p.Gly1147=) n.4027G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.12131897C= | CA2016768296 | BCL2L14,LRP6 | c.3894G= (p.Gly1298=) c.712-6939C= (n.712-6939C=) c.3488G= n.215G= c.3759G= (p.Gly1253=) c.3441G= (p.Gly1147=) n.4027G= | |
12 | g.12131897C>G | CA478843768 | BCL2L14,LRP6 | c.3894G>C (p.Gly1298=) c.712-6939C>G (n.712-6939C>G) c.3488G>C n.215G>C c.3759G>C (p.Gly1253=) c.3441G>C (p.Gly1147=) n.4027G>C | |
12 | g.12131897C>T | CA478843770 | BCL2L14,LRP6 | c.3894G>A (p.Gly1298=) c.712-6939C>T (n.712-6939C>T) c.3488G>A n.215G>A c.3759G>A (p.Gly1253=) c.3441G>A (p.Gly1147=) n.4027G>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.12131898C>A | CA383951470 | BCL2L14,LRP6 | c.3893G>T (p.Gly1298Val) c.712-6938C>A (n.712-6938C>A) c.3487G>T n.214G>T c.3758G>T (p.Gly1253Val) c.3440G>T (p.Gly1147Val) n.4026G>T | |
12 | g.12131898C>G | CA383951472 | BCL2L14,LRP6 | c.3893G>C (p.Gly1298Ala) c.712-6938C>G (n.712-6938C>G) c.3487G>C n.214G>C c.3758G>C (p.Gly1253Ala) c.3440G>C (p.Gly1147Ala) n.4026G>C | |
12 | g.12131898C>T | CA383951473 | BCL2L14,LRP6 | c.3893G>A (p.Gly1298Glu) c.712-6938C>T (n.712-6938C>T) c.3487G>A n.214G>A c.3758G>A (p.Gly1253Glu) c.3440G>A (p.Gly1147Glu) n.4026G>A | |
12 | g.12131899C>A | CA383951479 | BCL2L14,LRP6 | c.3892G>T (p.Gly1298Trp) c.712-6937C>A (n.712-6937C>A) c.3486G>T n.213G>T c.3757G>T (p.Gly1253Trp) c.3439G>T (p.Gly1147Trp) n.4025G>T | |
12 | g.12131899C= | CA2016768297 | BCL2L14,LRP6 | c.3892G= (p.Gly1298=) c.712-6937C= (n.712-6937C=) c.3486G= n.213G= c.3757G= (p.Gly1253=) c.3439G= (p.Gly1147=) n.4025G= | |
12 | g.12131899C>G | CA383951478 | BCL2L14,LRP6 | c.3892G>C (p.Gly1298Arg) c.712-6937C>G (n.712-6937C>G) c.3486G>C n.213G>C c.3757G>C (p.Gly1253Arg) c.3439G>C (p.Gly1147Arg) n.4025G>C | |
12 | g.12131899C>T | CA383951476 | BCL2L14,LRP6 | c.3892G>A (p.Gly1298Arg) c.712-6937C>T (n.712-6937C>T) c.3486G>A n.213G>A c.3757G>A (p.Gly1253Arg) c.3439G>A (p.Gly1147Arg) n.4025G>A | dbSNP |
12 | g.12131900A>C | CA383951481 | BCL2L14,LRP6 | c.3891T>G (p.Ser1297Arg) c.712-6936A>C (n.712-6936A>C) c.3485T>G n.212T>G c.3756T>G (p.Ser1252Arg) c.3438T>G (p.Ser1146Arg) n.4024T>G | gnomAD v4 |
12 | g.12131900A>G | CA478843771 | BCL2L14,LRP6 | c.3891T>C (p.Ser1297=) c.712-6936A>G (n.712-6936A>G) c.3485T>C n.212T>C c.3756T>C (p.Ser1252=) c.3438T>C (p.Ser1146=) n.4024T>C | COSMIC |
12 | g.12131900A>T | CA383951483 | BCL2L14,LRP6 | c.3891T>A (p.Ser1297Arg) c.712-6936A>T (n.712-6936A>T) c.3485T>A n.212T>A c.3756T>A (p.Ser1252Arg) c.3438T>A (p.Ser1146Arg) n.4024T>A | |
12 | g.12131901C>A | CA383951485 | BCL2L14,LRP6 | c.3890G>T (p.Ser1297Ile) c.712-6935C>A (n.712-6935C>A) c.3484G>T n.211G>T c.3755G>T (p.Ser1252Ile) c.3437G>T (p.Ser1146Ile) n.4023G>T | |
12 | g.12131901C>G | CA383951488 | BCL2L14,LRP6 | c.3890G>C (p.Ser1297Thr) c.712-6935C>G (n.712-6935C>G) c.3484G>C n.211G>C c.3755G>C (p.Ser1252Thr) c.3437G>C (p.Ser1146Thr) n.4023G>C | |
12 | g.12131901C>T | CA383951489 | BCL2L14,LRP6 | c.3890G>A (p.Ser1297Asn) c.712-6935C>T (n.712-6935C>T) c.3484G>A n.211G>A c.3755G>A (p.Ser1252Asn) c.3437G>A (p.Ser1146Asn) n.4023G>A | |
12 | g.12131902T>A | CA383951492 | BCL2L14,LRP6 | c.3889A>T (p.Ser1297Cys) c.712-6934T>A (n.712-6934T>A) c.3483A>T n.210A>T c.3754A>T (p.Ser1252Cys) c.3436A>T (p.Ser1146Cys) n.4022A>T | gnomAD v4 |
12 | g.12131902T>C | CA383951494 | BCL2L14,LRP6 | c.3889A>G (p.Ser1297Gly) c.712-6934T>C (n.712-6934T>C) c.3483A>G n.210A>G c.3754A>G (p.Ser1252Gly) c.3436A>G (p.Ser1146Gly) n.4022A>G | gnomAD v4 |
12 | g.12131902T>G | CA383951496 | BCL2L14,LRP6 | c.3889A>C (p.Ser1297Arg) c.712-6934T>G (n.712-6934T>G) c.3483A>C n.210A>C c.3754A>C (p.Ser1252Arg) c.3436A>C (p.Ser1146Arg) n.4022A>C | |
12 | g.12131903G>A | CA478843775 | BCL2L14,LRP6 | c.3888C>T (p.Ala1296=) c.712-6933G>A (n.712-6933G>A) c.3482C>T n.209C>T c.3753C>T (p.Ala1251=) c.3435C>T (p.Ala1145=) n.4021C>T | |
12 | g.12131903G>C | CA478843776 | BCL2L14,LRP6 | c.3888C>G (p.Ala1296=) c.712-6933G>C (n.712-6933G>C) c.3482C>G n.209C>G c.3753C>G (p.Ala1251=) c.3435C>G (p.Ala1145=) n.4021C>G | |
12 | g.12131903G>T | CA478843777 | BCL2L14,LRP6 | c.3888C>A (p.Ala1296=) c.712-6933G>T (n.712-6933G>T) c.3482C>A n.209C>A c.3753C>A (p.Ala1251=) c.3435C>A (p.Ala1145=) n.4021C>A | |
12 | g.12131904dup | CA2580085164 | BCL2L14,LRP6 | c.3888dup (p.Ser1297GlnfsTer6) c.712-6932dup (n.712-6932dup) c.3482dup n.209dup c.3753dup (p.Ser1252GlnfsTer6) c.3435dup (p.Ser1146GlnfsTer6) n.4021dup | ClinVar |
12 | g.12131908_12131909insGTGGGCACA | CA2617687028 | BCL2L14,LRP6 | c.3888_3889insCACTGTGCC (p.Ala1296_Ser1297insHisCysAla) c.712-6928_712-6927insGTGGGCACA (n.712-6928_712-6927insGTGGGCACA) c.3482_3483insCACTGTGCC n.209_210insCACTGTGCC c.3753_3754insCACTGTGCC (p.Ala1251_Ser1252insHisCysAla) c.3435_3436insCACTGTGCC (p.Ala1145_Ser1146insHisCysAla) n.4021_4022insCACTGTGCC | gnomAD v4 |
12 | g.12131904G>A | CA383951497 | BCL2L14,LRP6 | c.3887C>T (p.Ala1296Val) c.712-6932G>A (n.712-6932G>A) c.3481C>T n.208C>T c.3752C>T (p.Ala1251Val) c.3434C>T (p.Ala1145Val) n.4020C>T | |
12 | g.12131904G>C | CA383951500 | BCL2L14,LRP6 | c.3887C>G (p.Ala1296Gly) c.712-6932G>C (n.712-6932G>C) c.3481C>G n.208C>G c.3752C>G (p.Ala1251Gly) c.3434C>G (p.Ala1145Gly) n.4020C>G | |
12 | g.12131904G>T | CA383951501 | BCL2L14,LRP6 | c.3887C>A (p.Ala1296Asp) c.712-6932G>T (n.712-6932G>T) c.3481C>A n.208C>A c.3752C>A (p.Ala1251Asp) c.3434C>A (p.Ala1145Asp) n.4020C>A | |
12 | g.12131905C>A | CA383951507 | BCL2L14,LRP6 | c.3886G>T (p.Ala1296Ser) c.712-6931C>A (n.712-6931C>A) c.3480G>T n.207G>T c.3751G>T (p.Ala1251Ser) c.3433G>T (p.Ala1145Ser) n.4019G>T | dbSNP gnomAD v2 gnomAD v4 |