Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.66633411G>A | CA160219747 | KCTD7 | c.281G>A (p.Arg94Gln) c.259G>A c.144+4203G>A (n.144+4203G>A) c.139+4203G>A c.118+4203G>A c.151G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.66633411G>C | CA367695710 | KCTD7 | c.281G>C (p.Arg94Pro) c.259G>C c.144+4203G>C (n.144+4203G>C) c.139+4203G>C c.118+4203G>C c.151G>C | |
7 | g.66633411G= | CA1714174507 | KCTD7 | c.281G= (p.Arg94=) c.259G= c.144+4203G= (n.144+4203G=) c.139+4203G= c.118+4203G= c.151G= | |
7 | g.66633411G>T | CA367695709 | KCTD7 | c.281G>T (p.Arg94Leu) c.259G>T c.144+4203G>T (n.144+4203G>T) c.139+4203G>T c.118+4203G>T c.151G>T | |
7 | g.66633411_66633413dup | CA2578900510 | KCTD7 | c.281_283dup (p.Arg94_Tyr95insTrp) c.259_261dup c.144+4203_144+4205dup (n.144+4203_144+4205dup) c.139+4203_139+4205dup c.118+4203_118+4205dup c.151_153dup | |
7 | g.66633412G>A | CA455937374 | KCTD7 | c.282G>A (p.Arg94=) c.260G>A c.144+4204G>A (n.144+4204G>A) c.139+4204G>A c.118+4204G>A c.152G>A | gnomAD v4 |
7 | g.66633412G>C | CA455937372 | KCTD7 | c.282G>C (p.Arg94=) c.260G>C c.144+4204G>C (n.144+4204G>C) c.139+4204G>C c.118+4204G>C c.152G>C | |
7 | g.66633412G>T | CA455937371 | KCTD7 | c.282G>T (p.Arg94=) c.260G>T c.144+4204G>T (n.144+4204G>T) c.139+4204G>T c.118+4204G>T c.152G>T | |
7 | g.66633413T>A | CA367695711 | KCTD7 | c.283T>A (p.Tyr95Asn) c.261T>A c.144+4205T>A (n.144+4205T>A) c.139+4205T>A c.118+4205T>A c.153T>A | |
7 | g.66633413T>C | CA367695713 | KCTD7 | c.283T>C (p.Tyr95His) c.261T>C c.144+4205T>C (n.144+4205T>C) c.139+4205T>C c.118+4205T>C c.153T>C | |
7 | g.66633413T>G | CA367695712 | KCTD7 | c.283T>G (p.Tyr95Asp) c.261T>G c.144+4205T>G (n.144+4205T>G) c.139+4205T>G c.118+4205T>G c.153T>G | |
7 | g.66633414A>C | CA367695714 | KCTD7 | c.284A>C (p.Tyr95Ser) c.262A>C c.144+4206A>C (n.144+4206A>C) c.139+4206A>C c.118+4206A>C c.154A>C | |
7 | g.66633414A>G | CA367695715 | KCTD7 | c.284A>G (p.Tyr95Cys) c.262A>G c.144+4206A>G (n.144+4206A>G) c.139+4206A>G c.118+4206A>G c.154A>G | |
7 | g.66633414A>T | CA367695716 | KCTD7 | c.284A>T (p.Tyr95Phe) c.262A>T c.144+4206A>T (n.144+4206A>T) c.139+4206A>T c.118+4206A>T c.154A>T | |
7 | g.66633415C>A | CA367695717 | KCTD7 | c.285C>A (p.Tyr95Ter) c.263C>A c.144+4207C>A (n.144+4207C>A) c.139+4207C>A c.118+4207C>A c.155C>A | |
7 | g.66633415C= | CA1714174508 | KCTD7 | c.285C= (p.Tyr95=) c.263C= c.144+4207C= (n.144+4207C=) c.139+4207C= c.118+4207C= c.155C= | |
7 | g.66633415C>G | CA367695718 | KCTD7 | c.285C>G (p.Tyr95Ter) c.263C>G c.144+4207C>G (n.144+4207C>G) c.139+4207C>G c.118+4207C>G c.155C>G | dbSNP |
7 | g.66633415C>T | CA455937385 | KCTD7 | c.285C>T (p.Tyr95=) c.263C>T c.144+4207C>T (n.144+4207C>T) c.139+4207C>T c.118+4207C>T c.155C>T | ClinVar dbSNP |
7 | g.66633416T>A | CA367695719 | KCTD7 | c.286T>A (p.Phe96Ile) c.264T>A c.144+4208T>A (n.144+4208T>A) c.139+4208T>A c.118+4208T>A c.156T>A | |
7 | g.66633416T>C | CA367695720 | KCTD7 | c.286T>C (p.Phe96Leu) c.264T>C c.144+4208T>C (n.144+4208T>C) c.139+4208T>C c.118+4208T>C c.156T>C | |
7 | g.66633416T>G | CA367695721 | KCTD7 | c.286T>G (p.Phe96Val) c.264T>G c.144+4208T>G (n.144+4208T>G) c.139+4208T>G c.118+4208T>G c.156T>G | |
7 | g.66633417T>A | CA367695722 | KCTD7 | c.287T>A (p.Phe96Tyr) c.265T>A c.144+4209T>A (n.144+4209T>A) c.139+4209T>A c.118+4209T>A c.157T>A | |
7 | g.66633417T>C | CA367695723 | KCTD7 | c.287T>C (p.Phe96Ser) c.265T>C c.144+4209T>C (n.144+4209T>C) c.139+4209T>C c.118+4209T>C c.157T>C | |
7 | g.66633417T>G | CA367695724 | KCTD7 | c.287T>G (p.Phe96Cys) c.265T>G c.144+4209T>G (n.144+4209T>G) c.139+4209T>G c.118+4209T>G c.157T>G | |
7 | g.66633418C>A | CA367695726 | KCTD7 | c.288C>A (p.Phe96Leu) c.266C>A c.144+4210C>A (n.144+4210C>A) c.139+4210C>A c.118+4210C>A c.158C>A | gnomAD v4 |
7 | g.66633418C= | CA1714174509 | KCTD7 | c.288C= (p.Phe96=) c.266C= c.144+4210C= (n.144+4210C=) c.139+4210C= c.118+4210C= c.158C= | |
7 | g.66633418C>G | CA367695725 | KCTD7 | c.288C>G (p.Phe96Leu) c.266C>G c.144+4210C>G (n.144+4210C>G) c.139+4210C>G c.118+4210C>G c.158C>G | |
7 | g.66633418C>T | CA455937397 | KCTD7 | c.288C>T (p.Phe96=) c.266C>T c.144+4210C>T (n.144+4210C>T) c.139+4210C>T c.118+4210C>T c.158C>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.66633419A= | CA1714174510 | KCTD7 | c.289A= (p.Ile97=) c.267A= c.144+4211A= (n.144+4211A=) c.139+4211A= c.118+4211A= c.159A= | |
7 | g.66633419A>C | CA367695727 | KCTD7 | c.289A>C (p.Ile97Leu) c.267A>C c.144+4211A>C (n.144+4211A>C) c.139+4211A>C c.118+4211A>C c.159A>C | |
7 | g.66633419A>G | CA367695728 | KCTD7 | c.289A>G (p.Ile97Val) c.267A>G c.144+4211A>G (n.144+4211A>G) c.139+4211A>G c.118+4211A>G c.159A>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.66633419A>T | CA367695729 | KCTD7 | c.289A>T (p.Ile97Phe) c.267A>T c.144+4211A>T (n.144+4211A>T) c.139+4211A>T c.118+4211A>T c.159A>T | |
7 | g.66633420T>A | CA367695730 | KCTD7 | c.290T>A (p.Ile97Asn) c.268T>A c.144+4212T>A (n.144+4212T>A) c.139+4212T>A c.118+4212T>A c.160T>A | |
7 | g.66633420T>C | CA367695731 | KCTD7 | c.290T>C (p.Ile97Thr) c.268T>C c.144+4212T>C (n.144+4212T>C) c.139+4212T>C c.118+4212T>C c.160T>C | |
7 | g.66633420T>G | CA367695732 | KCTD7 | c.290T>G (p.Ile97Ser) c.268T>G c.144+4212T>G (n.144+4212T>G) c.139+4212T>G c.118+4212T>G c.160T>G | |
7 | g.66633421C>A | CA455937404 | KCTD7 | c.291C>A (p.Ile97=) c.269C>A c.144+4213C>A (n.144+4213C>A) c.139+4213C>A c.118+4213C>A c.161C>A | |
7 | g.66633421C= | CA1714174511 | KCTD7 | c.291C= (p.Ile97=) c.269C= c.144+4213C= (n.144+4213C=) c.139+4213C= c.118+4213C= c.161C= | |
7 | g.66633421C>G | CA367695733 | KCTD7 | c.291C>G (p.Ile97Met) c.269C>G c.144+4213C>G (n.144+4213C>G) c.139+4213C>G c.118+4213C>G c.161C>G | |
7 | g.66633421C>T | CA4278217 | KCTD7 | c.291C>T (p.Ile97=) c.269C>T c.144+4213C>T (n.144+4213C>T) c.139+4213C>T c.118+4213C>T c.161C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.66633422G>A | CA367695734 | KCTD7 | c.292G>A (p.Asp98Asn) c.270G>A c.144+4214G>A (n.144+4214G>A) c.139+4214G>A c.118+4214G>A c.162G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.66633422G>C | CA367695735 | KCTD7 | c.292G>C (p.Asp98His) c.270G>C c.144+4214G>C (n.144+4214G>C) c.139+4214G>C c.118+4214G>C c.162G>C | |
7 | g.66633422G= | CA1714174512 | KCTD7 | c.292G= (p.Asp98=) c.270G= c.144+4214G= (n.144+4214G=) c.139+4214G= c.118+4214G= c.162G= | |
7 | g.66633422G>T | CA367695736 | KCTD7 | c.292G>T (p.Asp98Tyr) c.270G>T c.144+4214G>T (n.144+4214G>T) c.139+4214G>T c.118+4214G>T c.162G>T | |
7 | g.66633423A>C | CA367695738 | KCTD7 | c.293A>C (p.Asp98Ala) c.271A>C c.144+4215A>C (n.144+4215A>C) c.139+4215A>C c.118+4215A>C c.163A>C | |
7 | g.66633423A>G | CA367695739 | KCTD7 | c.293A>G (p.Asp98Gly) c.271A>G c.144+4215A>G (n.144+4215A>G) c.139+4215A>G c.118+4215A>G c.163A>G | gnomAD v4 |
7 | g.66633423A>T | CA367695737 | KCTD7 | c.293A>T (p.Asp98Val) c.271A>T c.144+4215A>T (n.144+4215A>T) c.139+4215A>T c.118+4215A>T c.163A>T | |
7 | g.66633424C>A | CA367695740 | KCTD7 | c.294C>A (p.Asp98Glu) c.272C>A c.144+4216C>A (n.144+4216C>A) c.139+4216C>A c.118+4216C>A c.164C>A | |
7 | g.66633424C>G | CA367695741 | KCTD7 | c.294C>G (p.Asp98Glu) c.272C>G c.144+4216C>G (n.144+4216C>G) c.139+4216C>G c.118+4216C>G c.164C>G | |
7 | g.66633424C>T | CA455937416 | KCTD7 | c.294C>T (p.Asp98=) c.272C>T c.144+4216C>T (n.144+4216C>T) c.139+4216C>T c.118+4216C>T c.164C>T | ClinVar gnomAD v4 |
7 | g.66633424_66633425insACT | CA2776256139 | KCTD7 | c.294_295insACT (p.Asp98_Arg99insThr) c.272_273insACT c.144+4216_144+4217insACT (n.144+4216_144+4217insACT) c.139+4216_139+4217insACT c.118+4216_118+4217insACT c.164_165insACT | |
7 | g.66633425C>A | CA4278218 | KCTD7 | c.295C>A (p.Arg99=) c.273C>A c.144+4217C>A (n.144+4217C>A) c.139+4217C>A c.118+4217C>A c.165C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.66633425C= | CA1714174513 | KCTD7 | c.295C= (p.Arg99=) c.273C= c.144+4217C= (n.144+4217C=) c.139+4217C= c.118+4217C= c.165C= | |
7 | g.66633425C>G | CA367695742 | KCTD7 | c.295C>G (p.Arg99Gly) c.273C>G c.144+4217C>G (n.144+4217C>G) c.139+4217C>G c.118+4217C>G c.165C>G | gnomAD v4 |
7 | g.66633425C>T | CA114572 | KCTD7 | c.295C>T (p.Arg99Ter) c.273C>T c.144+4217C>T (n.144+4217C>T) c.139+4217C>T c.118+4217C>T c.165C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.66633426G>A | CA367695743 | KCTD7 | c.296G>A (p.Arg99Gln) c.274G>A c.144+4218G>A (n.144+4218G>A) c.139+4218G>A c.118+4218G>A c.166G>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.66633426G>C | CA367695744 | KCTD7 | c.296G>C (p.Arg99Pro) c.274G>C c.144+4218G>C (n.144+4218G>C) c.139+4218G>C c.118+4218G>C c.166G>C | |
7 | g.66633426G= | CA1714174514 | KCTD7 | c.296G= (p.Arg99=) c.274G= c.144+4218G= (n.144+4218G=) c.139+4218G= c.118+4218G= c.166G= | |
7 | g.66633426G>T | CA367695745 | KCTD7 | c.296G>T (p.Arg99Leu) c.274G>T c.144+4218G>T (n.144+4218G>T) c.139+4218G>T c.118+4218G>T c.166G>T | ClinVar dbSNP |
7 | g.66633427A>C | CA455937423 | KCTD7 | c.297A>C (p.Arg99=) c.275A>C c.144+4219A>C (n.144+4219A>C) c.139+4219A>C c.118+4219A>C c.167A>C | |
7 | g.66633427A>G | CA455937424 | KCTD7 | c.297A>G (p.Arg99=) c.275A>G c.144+4219A>G (n.144+4219A>G) c.139+4219A>G c.118+4219A>G c.167A>G | |
7 | g.66633427A>T | CA455937427 | KCTD7 | c.297A>T (p.Arg99=) c.275A>T c.144+4219A>T (n.144+4219A>T) c.139+4219A>T c.118+4219A>T c.167A>T | |
7 | g.66633428G>A | CA367695746 | KCTD7 | c.298G>A (p.Asp100Asn) c.276G>A c.144+4220G>A (n.144+4220G>A) c.139+4220G>A c.118+4220G>A c.168G>A | |
7 | g.66633428G>C | CA367695747 | KCTD7 | c.298G>C (p.Asp100His) c.276G>C c.144+4220G>C (n.144+4220G>C) c.139+4220G>C c.118+4220G>C c.168G>C | gnomAD v4 |
7 | g.66633428G>T | CA367695748 | KCTD7 | c.298G>T (p.Asp100Tyr) c.276G>T c.144+4220G>T (n.144+4220G>T) c.139+4220G>T c.118+4220G>T c.168G>T | |
7 | g.66633429A= | CA1714174515 | KCTD7 | c.299A= (p.Asp100=) c.277A= c.144+4221A= (n.144+4221A=) c.139+4221A= c.118+4221A= c.169A= | |
7 | g.66633429A>C | CA367695750 | KCTD7 | c.299A>C (p.Asp100Ala) c.277A>C c.144+4221A>C (n.144+4221A>C) c.139+4221A>C c.118+4221A>C c.169A>C | |
7 | g.66633429A>G | CA367695751 | KCTD7 | c.299A>G (p.Asp100Gly) c.277A>G c.144+4221A>G (n.144+4221A>G) c.139+4221A>G c.118+4221A>G c.169A>G | dbSNP |
7 | g.66633429A>T | CA367695749 | KCTD7 | c.299A>T (p.Asp100Val) c.277A>T c.144+4221A>T (n.144+4221A>T) c.139+4221A>T c.118+4221A>T c.169A>T | |
7 | g.66633430T>A | CA367695752 | KCTD7 | c.300T>A (p.Asp100Glu) c.278T>A c.144+4222T>A (n.144+4222T>A) c.139+4222T>A c.118+4222T>A c.170T>A | |
7 | g.66633430T>C | CA455937436 | KCTD7 | c.300T>C (p.Asp100=) c.278T>C c.144+4222T>C (n.144+4222T>C) c.139+4222T>C c.118+4222T>C c.170T>C | |
7 | g.66633430T>G | CA367695753 | KCTD7 | c.300T>G (p.Asp100Glu) c.278T>G c.144+4222T>G (n.144+4222T>G) c.139+4222T>G c.118+4222T>G c.170T>G | |
7 | g.66633431G>A | CA367695754 | KCTD7 | c.301G>A (p.Gly101Ser) c.279G>A c.144+4223G>A (n.144+4223G>A) c.139+4223G>A c.118+4223G>A c.171G>A | |
7 | g.66633431G>C | CA367695755 | KCTD7 | c.301G>C (p.Gly101Arg) c.279G>C c.144+4223G>C (n.144+4223G>C) c.139+4223G>C c.118+4223G>C c.171G>C | |
7 | g.66633431G>T | CA367695756 | KCTD7 | c.301G>T (p.Gly101Cys) c.279G>T c.144+4223G>T (n.144+4223G>T) c.139+4223G>T c.118+4223G>T c.171G>T | |
7 | g.66633432G>A | CA367695759 | KCTD7 | c.302G>A (p.Gly101Asp) c.280G>A c.144+4224G>A (n.144+4224G>A) c.139+4224G>A c.118+4224G>A c.172G>A | ClinVar dbSNP |
7 | g.66633432G>C | CA367695757 | KCTD7 | c.302G>C (p.Gly101Ala) c.280G>C c.144+4224G>C (n.144+4224G>C) c.139+4224G>C c.118+4224G>C c.172G>C | |
7 | g.66633432G= | CA1714174516 | KCTD7 | c.302G= (p.Gly101=) c.280G= c.144+4224G= (n.144+4224G=) c.139+4224G= c.118+4224G= c.172G= | |
7 | g.66633432G>T | CA367695758 | KCTD7 | c.302G>T (p.Gly101Val) c.280G>T c.144+4224G>T (n.144+4224G>T) c.139+4224G>T c.118+4224G>T c.172G>T | |
7 | g.66633433C>A | CA455937446 | KCTD7 | c.303C>A (p.Gly101=) c.281C>A c.144+4225C>A (n.144+4225C>A) c.139+4225C>A c.118+4225C>A c.173C>A | |
7 | g.66633433C>G | CA455937448 | KCTD7 | c.303C>G (p.Gly101=) c.281C>G c.144+4225C>G (n.144+4225C>G) c.139+4225C>G c.118+4225C>G c.173C>G | |
7 | g.66633433C>T | CA455937450 | KCTD7 | c.303C>T (p.Gly101=) c.281C>T c.144+4225C>T (n.144+4225C>T) c.139+4225C>T c.118+4225C>T c.173C>T | |
7 | g.66633434A>C | CA367695760 | KCTD7 | c.304A>C (p.Thr102Pro) c.282A>C c.144+4226A>C (n.144+4226A>C) c.139+4226A>C c.118+4226A>C c.174A>C | |
7 | g.66633434A>G | CA367695761 | KCTD7 | c.304A>G (p.Thr102Ala) c.282A>G c.144+4226A>G (n.144+4226A>G) c.139+4226A>G c.118+4226A>G c.174A>G | |
7 | g.66633434A>T | CA367695762 | KCTD7 | c.304A>T (p.Thr102Ser) c.282A>T c.144+4226A>T (n.144+4226A>T) c.139+4226A>T c.118+4226A>T c.174A>T | |
7 | g.66633435C>A | CA367695763 | KCTD7 | c.305C>A (p.Thr102Lys) c.283C>A c.144+4227C>A (n.144+4227C>A) c.139+4227C>A c.118+4227C>A c.175C>A | dbSNP |
7 | g.66633435C= | CA1714174517 | KCTD7 | c.305C= (p.Thr102=) c.283C= c.144+4227C= (n.144+4227C=) c.139+4227C= c.118+4227C= c.175C= | |
7 | g.66633435C>G | CA367695764 | KCTD7 | c.305C>G (p.Thr102Arg) c.283C>G c.144+4227C>G (n.144+4227C>G) c.139+4227C>G c.118+4227C>G c.175C>G | |
7 | g.66633435C>T | CA367695765 | KCTD7 | c.305C>T (p.Thr102Ile) c.283C>T c.144+4227C>T (n.144+4227C>T) c.139+4227C>T c.118+4227C>T c.175C>T | |
7 | g.66633436A= | CA1714174518 | KCTD7 | c.306A= (p.Thr102=) c.284A= c.144+4228A= (n.144+4228A=) c.139+4228A= c.118+4228A= c.176A= | |
7 | g.66633436A>C | CA455937459 | KCTD7 | c.306A>C (p.Thr102=) c.284A>C c.144+4228A>C (n.144+4228A>C) c.139+4228A>C c.118+4228A>C c.176A>C | dbSNP gnomAD v4 |
7 | g.66633436A>G | CA455937461 | KCTD7 | c.306A>G (p.Thr102=) c.284A>G c.144+4228A>G (n.144+4228A>G) c.139+4228A>G c.118+4228A>G c.176A>G | |
7 | g.66633436A>T | CA455937462 | KCTD7 | c.306A>T (p.Thr102=) c.284A>T c.144+4228A>T (n.144+4228A>T) c.139+4228A>T c.118+4228A>T c.176A>T | |
7 | g.66633437C>A | CA367695767 | KCTD7 | c.307C>A (p.His103Asn) c.285C>A c.144+4229C>A (n.144+4229C>A) c.139+4229C>A c.118+4229C>A c.177C>A | |
7 | g.66633437C>G | CA367695768 | KCTD7 | c.307C>G (p.His103Asp) c.285C>G c.144+4229C>G (n.144+4229C>G) c.139+4229C>G c.118+4229C>G c.177C>G | |
7 | g.66633437C>T | CA367695766 | KCTD7 | c.307C>T (p.His103Tyr) c.285C>T c.144+4229C>T (n.144+4229C>T) c.139+4229C>T c.118+4229C>T c.177C>T | |
7 | g.66633438A>C | CA367695770 | KCTD7 | c.308A>C (p.His103Pro) c.286A>C c.144+4230A>C (n.144+4230A>C) c.139+4230A>C c.118+4230A>C c.178A>C | |
7 | g.66633438A>G | CA367695769 | KCTD7 | c.308A>G (p.His103Arg) c.286A>G c.144+4230A>G (n.144+4230A>G) c.139+4230A>G c.118+4230A>G c.178A>G | ClinVar dbSNP |
7 | g.66633438A>T | CA367695771 | KCTD7 | c.308A>T (p.His103Leu) c.286A>T c.144+4230A>T (n.144+4230A>T) c.139+4230A>T c.118+4230A>T c.178A>T | |
7 | g.66633439C>A | CA367695772 | KCTD7 | c.309C>A (p.His103Gln) c.287C>A c.144+4231C>A (n.144+4231C>A) c.139+4231C>A c.118+4231C>A c.179C>A | |
7 | g.66633439C>G | CA367695773 | KCTD7 | c.309C>G (p.His103Gln) c.287C>G c.144+4231C>G (n.144+4231C>G) c.139+4231C>G c.118+4231C>G c.179C>G | |
7 | g.66633439C>T | CA455937472 | KCTD7 | c.309C>T (p.His103=) c.287C>T c.144+4231C>T (n.144+4231C>T) c.139+4231C>T c.118+4231C>T c.179C>T | gnomAD v4 |
7 | g.66633440T>A | CA367695774 | KCTD7 | c.310T>A (p.Phe104Ile) c.288T>A c.144+4232T>A (n.144+4232T>A) c.139+4232T>A c.118+4232T>A c.180T>A | |
7 | g.66633440T>C | CA367695775 | KCTD7 | c.310T>C (p.Phe104Leu) c.288T>C c.144+4232T>C (n.144+4232T>C) c.139+4232T>C c.118+4232T>C c.180T>C | |
7 | g.66633440T>G | CA367695776 | KCTD7 | c.310T>G (p.Phe104Val) c.288T>G c.144+4232T>G (n.144+4232T>G) c.139+4232T>G c.118+4232T>G c.180T>G | |
7 | g.66633441T>A | CA367695777 | KCTD7 | c.311T>A (p.Phe104Tyr) c.289T>A c.144+4233T>A (n.144+4233T>A) c.139+4233T>A c.118+4233T>A c.181T>A | |
7 | g.66633441T>C | CA367695778 | KCTD7 | c.311T>C (p.Phe104Ser) c.289T>C c.144+4233T>C (n.144+4233T>C) c.139+4233T>C c.118+4233T>C c.181T>C | |
7 | g.66633441T>G | CA367695779 | KCTD7 | c.311T>G (p.Phe104Cys) c.289T>G c.144+4233T>G (n.144+4233T>G) c.139+4233T>G c.118+4233T>G c.181T>G | |
7 | g.66633442T>A | CA367695780 | KCTD7 | c.312T>A (p.Phe104Leu) c.290T>A c.144+4234T>A (n.144+4234T>A) c.139+4234T>A c.118+4234T>A c.182T>A | |
7 | g.66633442T>C | CA455937482 | KCTD7 | c.312T>C (p.Phe104=) c.290T>C c.144+4234T>C (n.144+4234T>C) c.139+4234T>C c.118+4234T>C c.182T>C | |
7 | g.66633442T>G | CA367695781 | KCTD7 | c.312T>G (p.Phe104Leu) c.290T>G c.144+4234T>G (n.144+4234T>G) c.139+4234T>G c.118+4234T>G c.182T>G | |
7 | g.66633442T= | CA1714174519 | KCTD7 | c.312T= (p.Phe104=) c.290T= c.144+4234T= (n.144+4234T=) c.139+4234T= c.118+4234T= c.182T= | |
7 | g.66633443G>A | CA367695782 | KCTD7 | c.313G>A (p.Gly105Arg) c.291G>A c.144+4235G>A (n.144+4235G>A) c.139+4235G>A c.118+4235G>A c.183G>A | dbSNP |
7 | g.66633443G>C | CA367695783 | KCTD7 | c.313G>C (p.Gly105Arg) c.291G>C c.144+4235G>C (n.144+4235G>C) c.139+4235G>C c.118+4235G>C c.183G>C | dbSNP |
7 | g.66633443G= | CA1714174520 | KCTD7 | c.313G= (p.Gly105=) c.291G= c.144+4235G= (n.144+4235G=) c.139+4235G= c.118+4235G= c.183G= | |
7 | g.66633443G>T | CA367695784 | KCTD7 | c.313G>T (p.Gly105Ter) c.291G>T c.144+4235G>T (n.144+4235G>T) c.139+4235G>T c.118+4235G>T c.183G>T | |
7 | g.66633445dup | CA160219748 | KCTD7 | c.314+1dup c.292+1dup c.144+4237dup (n.144+4237dup) c.139+4237dup c.118+4237dup c.184+1dup | dbSNP |
7 | g.66633444G>A | CA367695787 | KCTD7 | c.314G>A (p.Gly105Glu) c.292G>A c.144+4236G>A (n.144+4236G>A) c.139+4236G>A c.118+4236G>A c.184G>A | gnomAD v4 |
7 | g.66633444G>C | CA367695785 | KCTD7 | c.314G>C (p.Gly105Ala) c.292G>C c.144+4236G>C (n.144+4236G>C) c.139+4236G>C c.118+4236G>C c.184G>C | |
7 | g.66633444G>T | CA367695786 | KCTD7 | c.314G>T (p.Gly105Val) c.292G>T c.144+4236G>T (n.144+4236G>T) c.139+4236G>T c.118+4236G>T c.184G>T | |
7 | g.66633445G>A | CA367695788 | KCTD7 | c.314+1G>A (n.314+1G>A) c.292+1G>A c.144+4237G>A (n.144+4237G>A) c.139+4237G>A c.118+4237G>A c.184+1G>A | ClinVar dbSNP gnomAD v4 |
7 | g.66633445G>C | CA367695789 | KCTD7 | c.314+1G>C (n.314+1G>C) c.292+1G>C c.144+4237G>C (n.144+4237G>C) c.139+4237G>C c.118+4237G>C c.184+1G>C | |
7 | g.66633445G= | CA1714174521 | KCTD7 | c.314+1G= (n.314+1G=) c.292+1G= c.144+4237G= (n.144+4237G=) c.139+4237G= c.118+4237G= c.184+1G= | |
7 | g.66633445G>T | CA367695790 | KCTD7 | c.314+1G>T (n.314+1G>T) c.292+1G>T c.144+4237G>T (n.144+4237G>T) c.139+4237G>T c.118+4237G>T c.184+1G>T | gnomAD v4 |
7 | g.66633446T>A | CA367695791 | KCTD7 | c.314+2T>A (n.314+2T>A) c.292+2T>A c.144+4238T>A (n.144+4238T>A) c.139+4238T>A c.118+4238T>A c.184+2T>A | |
7 | g.66633446T>C | CA367695792 | KCTD7 | c.314+2T>C (n.314+2T>C) c.292+2T>C c.144+4238T>C (n.144+4238T>C) c.139+4238T>C c.118+4238T>C c.184+2T>C | |
7 | g.66633446T>G | CA367695793 | KCTD7 | c.314+2T>G (n.314+2T>G) c.292+2T>G c.144+4238T>G (n.144+4238T>G) c.139+4238T>G c.118+4238T>G c.184+2T>G | |
7 | g.66633447A= | CA1714174522 | KCTD7 | c.314+3A= (n.314+3A=) c.292+3A= c.144+4239A= (n.144+4239A=) c.139+4239A= c.118+4239A= c.184+3A= | |
7 | g.66633447A>C | CA1714174523 | KCTD7 | c.314+3A>C (n.314+3A>C) c.292+3A>C c.144+4239A>C (n.144+4239A>C) c.139+4239A>C c.118+4239A>C c.184+3A>C | dbSNP |
7 | g.66633447A>G | CA2683113722 | KCTD7 | c.314+3A>G (n.314+3A>G) c.292+3A>G c.144+4239A>G (n.144+4239A>G) c.139+4239A>G c.118+4239A>G c.184+3A>G | gnomAD v4 |
7 | g.66633449G>C | CA160219749 | KCTD7 | c.314+5G>C (n.314+5G>C) c.292+5G>C c.144+4241G>C (n.144+4241G>C) c.139+4241G>C c.118+4241G>C c.184+5G>C | dbSNP gnomAD v4 |
7 | g.66633449G= | CA1714174524 | KCTD7 | c.314+5G= (n.314+5G=) c.292+5G= c.144+4241G= (n.144+4241G=) c.139+4241G= c.118+4241G= c.184+5G= | |
7 | g.66633451C>A | CA2683113723 | KCTD7 | c.314+7C>A (n.314+7C>A) c.292+7C>A c.144+4243C>A (n.144+4243C>A) c.139+4243C>A c.118+4243C>A c.184+7C>A | gnomAD v4 |
7 | g.66633453C= | CA1714174525 | KCTD7 | c.314+9C= (n.314+9C=) c.292+9C= c.144+4245C= (n.144+4245C=) c.139+4245C= c.118+4245C= c.184+9C= | |
7 | g.66633453C>T | CA4278219 | KCTD7 | c.314+9C>T (n.314+9C>T) c.292+9C>T c.144+4245C>T (n.144+4245C>T) c.139+4245C>T c.118+4245C>T c.184+9C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.66633455C= | CA1714174526 | KCTD7 | c.314+11C= (n.314+11C=) c.292+11C= c.144+4247C= (n.144+4247C=) c.139+4247C= c.118+4247C= c.184+11C= | |
7 | g.66633455C>G | CA4278220 | KCTD7 | c.314+11C>G (n.314+11C>G) c.292+11C>G c.144+4247C>G (n.144+4247C>G) c.139+4247C>G c.118+4247C>G c.184+11C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.66633455C>T | CA575262129 | KCTD7 | c.314+11C>T (n.314+11C>T) c.292+11C>T c.144+4247C>T (n.144+4247C>T) c.139+4247C>T c.118+4247C>T c.184+11C>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.66633456C>T | CA2683113724 | KCTD7 | c.314+12C>T (n.314+12C>T) c.292+12C>T c.144+4248C>T (n.144+4248C>T) c.139+4248C>T c.118+4248C>T c.184+12C>T | gnomAD v4 |
7 | g.66633457C>A | CA2578900511 | KCTD7 | c.314+13C>A (n.314+13C>A) c.292+13C>A c.144+4249C>A (n.144+4249C>A) c.139+4249C>A c.118+4249C>A c.184+13C>A | |
7 | g.66633457C= | CA1714174527 | KCTD7 | c.314+13C= (n.314+13C=) c.292+13C= c.144+4249C= (n.144+4249C=) c.139+4249C= c.118+4249C= c.184+13C= | |
7 | g.66633457C>G | CA1714174528 | KCTD7 | c.314+13C>G (n.314+13C>G) c.292+13C>G c.144+4249C>G (n.144+4249C>G) c.139+4249C>G c.118+4249C>G c.184+13C>G | dbSNP |
7 | g.66633457C>T | CA2573142308 | KCTD7 | c.314+13C>T (n.314+13C>T) c.292+13C>T c.144+4249C>T (n.144+4249C>T) c.139+4249C>T c.118+4249C>T c.184+13C>T | ClinVar dbSNP gnomAD v4 |
7 | g.66633461A= | CA1714174529 | KCTD7 | c.314+17A= (n.314+17A=) c.292+17A= c.144+4253A= (n.144+4253A=) c.139+4253A= c.118+4253A= c.184+17A= | |
7 | g.66633461A>G | CA1714174530 | KCTD7 | c.314+17A>G (n.314+17A>G) c.292+17A>G c.144+4253A>G (n.144+4253A>G) c.139+4253A>G c.118+4253A>G c.184+17A>G | dbSNP gnomAD v4 |
7 | g.66633462C>A | CA575145116 | KCTD7 | c.314+18C>A (n.314+18C>A) c.292+18C>A c.144+4254C>A (n.144+4254C>A) c.139+4254C>A c.118+4254C>A c.184+18C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.66633462C= | CA1714174531 | KCTD7 | c.314+18C= (n.314+18C=) c.292+18C= c.144+4254C= (n.144+4254C=) c.139+4254C= c.118+4254C= c.184+18C= | |
7 | g.66633462C>G | CA575145118 | KCTD7 | c.314+18C>G (n.314+18C>G) c.292+18C>G c.144+4254C>G (n.144+4254C>G) c.139+4254C>G c.118+4254C>G c.184+18C>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.66633463A= | CA1714174532 | KCTD7 | c.314+19A= (n.314+19A=) c.292+19A= c.144+4255A= (n.144+4255A=) c.139+4255A= c.118+4255A= c.184+19A= | |
7 | g.66633463A>C | CA2580077304 | KCTD7 | c.314+19A>C (n.314+19A>C) c.292+19A>C c.144+4255A>C (n.144+4255A>C) c.139+4255A>C c.118+4255A>C c.184+19A>C | ClinVar |
7 | g.66633463A>G | CA4278221 | KCTD7 | c.314+19A>G (n.314+19A>G) c.292+19A>G c.144+4255A>G (n.144+4255A>G) c.139+4255A>G c.118+4255A>G c.184+19A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.66633464A= | CA1714174533 | KCTD7 | c.314+20A= (n.314+20A=) c.292+20A= c.144+4256A= (n.144+4256A=) c.139+4256A= c.118+4256A= c.184+20A= | |
7 | g.66633464A>G | CA841292882 | KCTD7 | c.314+20A>G (n.314+20A>G) c.292+20A>G c.144+4256A>G (n.144+4256A>G) c.139+4256A>G c.118+4256A>G c.184+20A>G | dbSNP gnomAD v3 gnomAD v4 |
7 | g.66633464A>T | CA2683113725 | KCTD7 | c.314+20A>T (n.314+20A>T) c.292+20A>T c.144+4256A>T (n.144+4256A>T) c.139+4256A>T c.118+4256A>T c.184+20A>T | gnomAD v4 |
7 | g.66633466C>A | CA2683113726 | KCTD7 | c.314+22C>A (n.314+22C>A) c.292+22C>A c.144+4258C>A (n.144+4258C>A) c.139+4258C>A c.118+4258C>A c.184+22C>A | gnomAD v4 |
7 | g.66633466C>G | CA2683113727 | KCTD7 | c.314+22C>G (n.314+22C>G) c.292+22C>G c.144+4258C>G (n.144+4258C>G) c.139+4258C>G c.118+4258C>G c.184+22C>G | gnomAD v4 |
7 | g.66633468A= | CA1714174534 | KCTD7 | c.314+24A= (n.314+24A=) c.292+24A= c.144+4260A= (n.144+4260A=) c.139+4260A= c.118+4260A= c.184+24A= | |
7 | g.66633468A>C | CA2683113728 | KCTD7 | c.314+24A>C (n.314+24A>C) c.292+24A>C c.144+4260A>C (n.144+4260A>C) c.139+4260A>C c.118+4260A>C c.184+24A>C | gnomAD v4 |
7 | g.66633468A>G | CA4278222 | KCTD7 | c.314+24A>G (n.314+24A>G) c.292+24A>G c.144+4260A>G (n.144+4260A>G) c.139+4260A>G c.118+4260A>G c.184+24A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.66633468A>T | CA1714174535 | KCTD7 | c.314+24A>T (n.314+24A>T) c.292+24A>T c.144+4260A>T (n.144+4260A>T) c.139+4260A>T c.118+4260A>T c.184+24A>T | dbSNP |
7 | g.66633469C>A | CA2683113729 | KCTD7 | c.314+25C>A (n.314+25C>A) c.292+25C>A c.144+4261C>A (n.144+4261C>A) c.139+4261C>A c.118+4261C>A c.184+25C>A | gnomAD v4 |
7 | g.66633469C= | CA1714174536 | KCTD7 | c.314+25C= (n.314+25C=) c.292+25C= c.144+4261C= (n.144+4261C=) c.139+4261C= c.118+4261C= c.184+25C= | |
7 | g.66633469C>G | CA4278223 | KCTD7 | c.314+25C>G (n.314+25C>G) c.292+25C>G c.144+4261C>G (n.144+4261C>G) c.139+4261C>G c.118+4261C>G c.184+25C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.66633471T>C | CA1714174538 | KCTD7 | c.314+27T>C (n.314+27T>C) c.292+27T>C c.144+4263T>C (n.144+4263T>C) c.139+4263T>C c.118+4263T>C c.184+27T>C | dbSNP gnomAD v4 |
7 | g.66633471T= | CA1714174537 | KCTD7 | c.314+27T= (n.314+27T=) c.292+27T= c.144+4263T= (n.144+4263T=) c.139+4263T= c.118+4263T= c.184+27T= | |
7 | g.66633472T>C | CA2683113730 | KCTD7 | c.314+28T>C (n.314+28T>C) c.292+28T>C c.144+4264T>C (n.144+4264T>C) c.139+4264T>C c.118+4264T>C c.184+28T>C | gnomAD v4 |
7 | g.66633472T>G | CA2683113731 | KCTD7 | c.314+28T>G (n.314+28T>G) c.292+28T>G c.144+4264T>G (n.144+4264T>G) c.139+4264T>G c.118+4264T>G c.184+28T>G | gnomAD v4 |
7 | g.66633473G>A | CA4278224 | KCTD7 | c.314+29G>A (n.314+29G>A) c.292+29G>A c.144+4265G>A (n.144+4265G>A) c.139+4265G>A c.118+4265G>A c.184+29G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.66633473G= | CA1714174539 | KCTD7 | c.314+29G= (n.314+29G=) c.292+29G= c.144+4265G= (n.144+4265G=) c.139+4265G= c.118+4265G= c.184+29G= | |
7 | g.66633474T>G | CA841292885 | KCTD7 | c.314+30T>G (n.314+30T>G) c.292+30T>G c.144+4266T>G (n.144+4266T>G) c.139+4266T>G c.118+4266T>G c.184+30T>G | dbSNP |
7 | g.66633474T= | CA1714174540 | KCTD7 | c.314+30T= (n.314+30T=) c.292+30T= c.144+4266T= (n.144+4266T=) c.139+4266T= c.118+4266T= c.184+30T= | |
7 | g.66633474dup | CA2683113732 | KCTD7 | c.314+30dup (n.314+30dup) c.292+30dup c.144+4266dup (n.144+4266dup) c.139+4266dup c.118+4266dup c.184+30dup | gnomAD v4 |
7 | g.66633475A= | CA1714174541 | KCTD7 | c.314+31A= (n.314+31A=) c.292+31A= c.144+4267A= (n.144+4267A=) c.139+4267A= c.118+4267A= c.184+31A= | |
7 | g.66633475A>G | CA1714174542 | KCTD7 | c.314+31A>G (n.314+31A>G) c.292+31A>G c.144+4267A>G (n.144+4267A>G) c.139+4267A>G c.118+4267A>G c.184+31A>G | dbSNP gnomAD v4 |
7 | g.66633476G= | CA1714174543 | KCTD7 | c.314+32G= (n.314+32G=) c.292+32G= c.144+4268G= (n.144+4268G=) c.139+4268G= c.118+4268G= c.184+32G= | |
7 | g.66633476G>T | CA4278225 | KCTD7 | c.314+32G>T (n.314+32G>T) c.292+32G>T c.144+4268G>T (n.144+4268G>T) c.139+4268G>T c.118+4268G>T c.184+32G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.66633477T>G | CA2683113733 | KCTD7 | c.314+33T>G (n.314+33T>G) c.292+33T>G c.144+4269T>G (n.144+4269T>G) c.139+4269T>G c.118+4269T>G c.184+33T>G | gnomAD v4 |
7 | g.66633478C>A | CA2683113734 | KCTD7 | c.314+34C>A (n.314+34C>A) c.292+34C>A c.144+4270C>A (n.144+4270C>A) c.139+4270C>A c.118+4270C>A c.184+34C>A | gnomAD v4 |
7 | g.66633478C= | CA1714174544 | KCTD7 | c.314+34C= (n.314+34C=) c.292+34C= c.144+4270C= (n.144+4270C=) c.139+4270C= c.118+4270C= c.184+34C= | |
7 | g.66633478C>T | CA1714174545 | KCTD7 | c.314+34C>T (n.314+34C>T) c.292+34C>T c.144+4270C>T (n.144+4270C>T) c.139+4270C>T c.118+4270C>T c.184+34C>T | dbSNP gnomAD v4 |
7 | g.66633479C>A | CA2683113735 | KCTD7 | c.314+35C>A (n.314+35C>A) c.292+35C>A c.144+4271C>A (n.144+4271C>A) c.139+4271C>A c.118+4271C>A c.184+35C>A | gnomAD v4 |
7 | g.66633479C= | CA1714174546 | KCTD7 | c.314+35C= (n.314+35C=) c.292+35C= c.144+4271C= (n.144+4271C=) c.139+4271C= c.118+4271C= c.184+35C= | |
7 | g.66633479C>T | CA160219750 | KCTD7 | c.314+35C>T (n.314+35C>T) c.292+35C>T c.144+4271C>T (n.144+4271C>T) c.139+4271C>T c.118+4271C>T c.184+35C>T | dbSNP |
7 | g.66633482G>A | CA2683113736 | KCTD7 | c.314+38G>A (n.314+38G>A) c.292+38G>A c.144+4274G>A (n.144+4274G>A) c.139+4274G>A c.118+4274G>A c.184+38G>A | gnomAD v4 |
7 | g.66633482G>C | CA2683113737 | KCTD7 | c.314+38G>C (n.314+38G>C) c.292+38G>C c.144+4274G>C (n.144+4274G>C) c.139+4274G>C c.118+4274G>C c.184+38G>C | gnomAD v4 |
7 | g.66633483C>A | CA2683113738 | KCTD7 | c.314+39C>A (n.314+39C>A) c.292+39C>A c.144+4275C>A (n.144+4275C>A) c.139+4275C>A c.118+4275C>A c.184+39C>A | gnomAD v4 |
7 | g.66633483C>G | CA2683113739 | KCTD7 | c.314+39C>G (n.314+39C>G) c.292+39C>G c.144+4275C>G (n.144+4275C>G) c.139+4275C>G c.118+4275C>G c.184+39C>G | gnomAD v4 |
7 | g.66633485G>A | CA1714174548 | KCTD7 | c.314+41G>A (n.314+41G>A) c.292+41G>A c.144+4277G>A (n.144+4277G>A) c.139+4277G>A c.118+4277G>A c.184+41G>A | dbSNP gnomAD v4 |
7 | g.66633485G= | CA1714174547 | KCTD7 | c.314+41G= (n.314+41G=) c.292+41G= c.144+4277G= (n.144+4277G=) c.139+4277G= c.118+4277G= c.184+41G= | |
7 | g.66633486G>A | CA575145131 | KCTD7 | c.314+42G>A (n.314+42G>A) c.292+42G>A c.144+4278G>A (n.144+4278G>A) c.139+4278G>A c.118+4278G>A c.184+42G>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.66633486G= | CA1714174549 | KCTD7 | c.314+42G= (n.314+42G=) c.292+42G= c.144+4278G= (n.144+4278G=) c.139+4278G= c.118+4278G= c.184+42G= | |
7 | g.66633487T>C | CA1714174551 | KCTD7 | c.314+43T>C (n.314+43T>C) c.292+43T>C c.144+4279T>C (n.144+4279T>C) c.139+4279T>C c.118+4279T>C c.184+43T>C | dbSNP |
7 | g.66633487T= | CA1714174550 | KCTD7 | c.314+43T= (n.314+43T=) c.292+43T= c.144+4279T= (n.144+4279T=) c.139+4279T= c.118+4279T= c.184+43T= | |
7 | g.66633487_66633491del | CA2776256141 | KCTD7 | c.314+43_314+47del (n.314+43_314+47del) c.292+43_292+47del c.144+4279_144+4283del (n.144+4279_144+4283del) c.139+4279_139+4283del c.118+4279_118+4283del c.184+43_184+47del | |
7 | g.66633487_66633488insA | CA2776256143 | KCTD7 | c.314+43_314+44insA (n.314+43_314+44insA) c.292+43_292+44insA c.144+4279_144+4280insA (n.144+4279_144+4280insA) c.139+4279_139+4280insA c.118+4279_118+4280insA c.184+43_184+44insA | |
7 | g.66633488G>A | CA2776256142 | KCTD7 | c.314+44G>A (n.314+44G>A) c.292+44G>A c.144+4280G>A (n.144+4280G>A) c.139+4280G>A c.118+4280G>A c.184+44G>A | |
7 | g.66633488G>C | CA575145134 | KCTD7 | c.314+44G>C (n.314+44G>C) c.292+44G>C c.144+4280G>C (n.144+4280G>C) c.139+4280G>C c.118+4280G>C c.184+44G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.66633488G= | CA1714174552 | KCTD7 | c.314+44G= (n.314+44G=) c.292+44G= c.144+4280G= (n.144+4280G=) c.139+4280G= c.118+4280G= c.184+44G= | |
7 | g.66633489A>C | CA2776256144 | KCTD7 | c.314+45A>C (n.314+45A>C) c.292+45A>C c.144+4281A>C (n.144+4281A>C) c.139+4281A>C c.118+4281A>C c.184+45A>C | |
7 | g.66633489_66633490delinsAT | CA1714174553 | KCTD7 | c.314+45_314+46delinsAT (n.314+45_314+46delinsAT) c.292+45_292+46delinsAT c.144+4281_144+4282delinsAT (n.144+4281_144+4282delinsAT) c.139+4281_139+4282delinsAT c.118+4281_118+4282delinsAT c.184+45_184+46delinsAT | |
7 | g.66633490T>C | CA2683113740 | KCTD7 | c.314+46T>C (n.314+46T>C) c.292+46T>C c.144+4282T>C (n.144+4282T>C) c.139+4282T>C c.118+4282T>C c.184+46T>C | gnomAD v4 |
7 | g.66633491del | CA575145135 | KCTD7 | c.314+47del (n.314+47del) c.292+47del c.144+4283del (n.144+4283del) c.139+4283del c.118+4283del c.184+47del | dbSNP gnomAD v2 gnomAD v4 |
7 | g.66633493G>A | CA841292894 | KCTD7 | c.314+49G>A (n.314+49G>A) c.292+49G>A c.144+4285G>A (n.144+4285G>A) c.139+4285G>A c.118+4285G>A c.184+49G>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.66633493G= | CA1714174554 | KCTD7 | c.314+49G= (n.314+49G=) c.292+49G= c.144+4285G= (n.144+4285G=) c.139+4285G= c.118+4285G= c.184+49G= | |
7 | g.66633493G>T | CA1714174555 | KCTD7 | c.314+49G>T (n.314+49G>T) c.292+49G>T c.144+4285G>T (n.144+4285G>T) c.139+4285G>T c.118+4285G>T c.184+49G>T | dbSNP |
7 | g.66633494C>A | CA4278226 | KCTD7 | c.314+50C>A (n.314+50C>A) c.292+50C>A c.144+4286C>A (n.144+4286C>A) c.139+4286C>A c.118+4286C>A c.184+50C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.66633494C= | CA1714174556 | KCTD7 | c.314+50C= (n.314+50C=) c.292+50C= c.144+4286C= (n.144+4286C=) c.139+4286C= c.118+4286C= c.184+50C= | |
7 | g.66633494C>G | CA2578900512 | KCTD7 | c.314+50C>G (n.314+50C>G) c.292+50C>G c.144+4286C>G (n.144+4286C>G) c.139+4286C>G c.118+4286C>G c.184+50C>G | |
7 | g.66633494C>T | CA4278227 | KCTD7 | c.314+50C>T (n.314+50C>T) c.292+50C>T c.144+4286C>T (n.144+4286C>T) c.139+4286C>T c.118+4286C>T c.184+50C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.66633495G>A | CA4278228 | KCTD7 | c.314+51G>A (n.314+51G>A) c.292+51G>A c.144+4287G>A (n.144+4287G>A) c.139+4287G>A c.118+4287G>A c.184+51G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.66633495G>C | CA575145142 | KCTD7 | c.314+51G>C (n.314+51G>C) c.292+51G>C c.144+4287G>C (n.144+4287G>C) c.139+4287G>C c.118+4287G>C c.184+51G>C | dbSNP gnomAD v2 gnomAD v4 |
7 | g.66633495G= | CA1714174557 | KCTD7 | c.314+51G= (n.314+51G=) c.292+51G= c.144+4287G= (n.144+4287G=) c.139+4287G= c.118+4287G= c.184+51G= | |
7 | g.66633495G>T | CA841292899 | KCTD7 | c.314+51G>T (n.314+51G>T) c.292+51G>T c.144+4287G>T (n.144+4287G>T) c.139+4287G>T c.118+4287G>T c.184+51G>T | dbSNP gnomAD v3 gnomAD v4 |
7 | g.66633495_66633496insA | CA2776256147 | KCTD7 | c.314+51_314+52insA (n.314+51_314+52insA) c.292+51_292+52insA c.144+4287_144+4288insA (n.144+4287_144+4288insA) c.139+4287_139+4288insA c.118+4287_118+4288insA c.184+51_184+52insA | |
7 | g.66633496del | CA2776256149 | KCTD7 | c.314+52del (n.314+52del) c.292+52del c.144+4288del (n.144+4288del) c.139+4288del c.118+4288del c.184+52del | |
7 | g.66633496T>C | CA1714174559 | KCTD7 | c.314+52T>C (n.314+52T>C) c.292+52T>C c.144+4288T>C (n.144+4288T>C) c.139+4288T>C c.118+4288T>C c.184+52T>C | dbSNP gnomAD v4 |
7 | g.66633496T= | CA1714174558 | KCTD7 | c.314+52T= (n.314+52T=) c.292+52T= c.144+4288T= (n.144+4288T=) c.139+4288T= c.118+4288T= c.184+52T= | |
7 | g.66633498G>C | CA2683113741 | KCTD7 | c.314+54G>C (n.314+54G>C) c.292+54G>C c.144+4290G>C (n.144+4290G>C) c.139+4290G>C c.118+4290G>C c.184+54G>C | gnomAD v4 |
7 | g.66633498_66633499insT | CA2776256151 | KCTD7 | c.314+54_314+55insT (n.314+54_314+55insT) c.292+54_292+55insT c.144+4290_144+4291insT (n.144+4290_144+4291insT) c.139+4290_139+4291insT c.118+4290_118+4291insT c.184+54_184+55insT | |
7 | g.66633500C>A | CA2683113742 | KCTD7 | c.314+56C>A (n.314+56C>A) c.292+56C>A c.144+4292C>A (n.144+4292C>A) c.139+4292C>A c.118+4292C>A c.184+56C>A | gnomAD v4 |
7 | g.66633500C= | CA1714174560 | KCTD7 | c.314+56C= (n.314+56C=) c.292+56C= c.144+4292C= (n.144+4292C=) c.139+4292C= c.118+4292C= c.184+56C= | |
7 | g.66633500C>G | CA2683113743 | KCTD7 | c.314+56C>G (n.314+56C>G) c.292+56C>G c.144+4292C>G (n.144+4292C>G) c.139+4292C>G c.118+4292C>G c.184+56C>G | gnomAD v4 |
7 | g.66633500C>T | CA1714174561 | KCTD7 | c.314+56C>T (n.314+56C>T) c.292+56C>T c.144+4292C>T (n.144+4292C>T) c.139+4292C>T c.118+4292C>T c.184+56C>T | dbSNP |
7 | g.66633501T>G | CA651569510 | KCTD7 | c.314+57T>G (n.314+57T>G) c.292+57T>G c.144+4293T>G (n.144+4293T>G) c.139+4293T>G c.118+4293T>G c.184+57T>G | COSMIC |
7 | g.66633502T>C | CA1102440308 | KCTD7 | c.314+58T>C (n.314+58T>C) c.292+58T>C c.144+4294T>C (n.144+4294T>C) c.139+4294T>C c.118+4294T>C c.184+58T>C | dbSNP gnomAD v3 gnomAD v4 |
7 | g.66633502T= | CA1714174562 | KCTD7 | c.314+58T= (n.314+58T=) c.292+58T= c.144+4294T= (n.144+4294T=) c.139+4294T= c.118+4294T= c.184+58T= | |
7 | g.66633503G>C | CA841292904 | KCTD7 | c.314+59G>C (n.314+59G>C) c.292+59G>C c.144+4295G>C (n.144+4295G>C) c.139+4295G>C c.118+4295G>C c.184+59G>C | dbSNP gnomAD v4 |
7 | g.66633503G= | CA1714174563 | KCTD7 | c.314+59G= (n.314+59G=) c.292+59G= c.144+4295G= (n.144+4295G=) c.139+4295G= c.118+4295G= c.184+59G= | |
7 | g.66633505G>T | CA2683113744 | KCTD7 | c.314+61G>T (n.314+61G>T) c.292+61G>T c.144+4297G>T (n.144+4297G>T) c.139+4297G>T c.118+4297G>T c.184+61G>T | gnomAD v4 |
7 | g.66633506T>A | CA2683113745 | KCTD7 | c.314+62T>A (n.314+62T>A) c.292+62T>A c.144+4298T>A (n.144+4298T>A) c.139+4298T>A c.118+4298T>A c.184+62T>A | gnomAD v4 |
7 | g.66633507A= | CA1714174564 | KCTD7 | c.314+63A= (n.314+63A=) c.292+63A= c.144+4299A= (n.144+4299A=) c.139+4299A= c.118+4299A= c.184+63A= | |
7 | g.66633507A>G | CA160219751 | KCTD7 | c.314+63A>G (n.314+63A>G) c.292+63A>G c.144+4299A>G (n.144+4299A>G) c.139+4299A>G c.118+4299A>G c.184+63A>G | dbSNP gnomAD v4 |
7 | g.66633508T>C | CA1714174566 | KCTD7 | c.314+64T>C (n.314+64T>C) c.292+64T>C c.144+4300T>C (n.144+4300T>C) c.139+4300T>C c.118+4300T>C c.184+64T>C | dbSNP gnomAD v4 |
7 | g.66633508T= | CA1714174565 | KCTD7 | c.314+64T= (n.314+64T=) c.292+64T= c.144+4300T= (n.144+4300T=) c.139+4300T= c.118+4300T= c.184+64T= | |
7 | g.66633509G>A | CA160219752 | KCTD7 | c.314+65G>A (n.314+65G>A) c.292+65G>A c.144+4301G>A (n.144+4301G>A) c.139+4301G>A c.118+4301G>A c.184+65G>A | dbSNP gnomAD v4 |
7 | g.66633509G>C | CA1714174568 | KCTD7 | c.314+65G>C (n.314+65G>C) c.292+65G>C c.144+4301G>C (n.144+4301G>C) c.139+4301G>C c.118+4301G>C c.184+65G>C | dbSNP gnomAD v4 |
7 | g.66633509G= | CA1714174567 | KCTD7 | c.314+65G= (n.314+65G=) c.292+65G= c.144+4301G= (n.144+4301G=) c.139+4301G= c.118+4301G= c.184+65G= | |
7 | g.66633511del | CA2683113746 | KCTD7 | c.314+67del (n.314+67del) c.292+67del c.144+4303del (n.144+4303del) c.139+4303del c.118+4303del c.184+67del | gnomAD v4 |
7 | g.66633510G>A | CA841292908 | KCTD7 | c.314+66G>A (n.314+66G>A) c.292+66G>A c.144+4302G>A (n.144+4302G>A) c.139+4302G>A c.118+4302G>A c.184+66G>A | dbSNP gnomAD v4 |
7 | g.66633510G>C | CA2776256152 | KCTD7 | c.314+66G>C (n.314+66G>C) c.292+66G>C c.144+4302G>C (n.144+4302G>C) c.139+4302G>C c.118+4302G>C c.184+66G>C | |
7 | g.66633510G= | CA1714174569 | KCTD7 | c.314+66G= (n.314+66G=) c.292+66G= c.144+4302G= (n.144+4302G=) c.139+4302G= c.118+4302G= c.184+66G= | |
7 | g.66633510G>T | CA2683113747 | KCTD7 | c.314+66G>T (n.314+66G>T) c.292+66G>T c.144+4302G>T (n.144+4302G>T) c.139+4302G>T c.118+4302G>T c.184+66G>T | gnomAD v4 |
7 | g.66633510_66633511insAGT | CA2776256153 | KCTD7 | c.314+66_314+67insAGT (n.314+66_314+67insAGT) c.292+66_292+67insAGT c.144+4302_144+4303insAGT (n.144+4302_144+4303insAGT) c.139+4302_139+4303insAGT c.118+4302_118+4303insAGT c.184+66_184+67insAGT | |
7 | g.66633511G>A | CA841292912 | KCTD7 | c.314+67G>A (n.314+67G>A) c.292+67G>A c.144+4303G>A (n.144+4303G>A) c.139+4303G>A c.118+4303G>A c.184+67G>A | dbSNP gnomAD v4 |
7 | g.66633511G= | CA1714174570 | KCTD7 | c.314+67G= (n.314+67G=) c.292+67G= c.144+4303G= (n.144+4303G=) c.139+4303G= c.118+4303G= c.184+67G= | |
7 | g.66633511_66633528del | CA2776256154 | KCTD7 | c.314+67_314+84del (n.314+67_314+84del) c.292+67_292+84del c.144+4303_144+4320del (n.144+4303_144+4320del) c.139+4303_139+4320del c.118+4303_118+4320del c.184+67_184+84del |