Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.66633355C>A | CA4278204 | KCTD7 | c.225C>A (p.Thr75=) c.203C>A c.144+4147C>A (n.144+4147C>A) c.139+4147C>A c.118+4147C>A c.95C>A | dbSNP ExAC gnomAD v2 |
7 | g.66633355C= | CA1714174478 | KCTD7 | c.225C= (p.Thr75=) c.203C= c.144+4147C= (n.144+4147C=) c.139+4147C= c.118+4147C= c.95C= | |
7 | g.66633355C>G | CA4278203 | KCTD7 | c.225C>G (p.Thr75=) c.203C>G c.144+4147C>G (n.144+4147C>G) c.139+4147C>G c.118+4147C>G c.95C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.66633355C>T | CA455937133 | KCTD7 | c.225C>T (p.Thr75=) c.203C>T c.144+4147C>T (n.144+4147C>T) c.139+4147C>T c.118+4147C>T c.95C>T | |
7 | g.66633356A= | CA1714174479 | KCTD7 | c.226A= (p.Met76=) c.204A= c.144+4148A= (n.144+4148A=) c.139+4148A= c.118+4148A= c.96A= | |
7 | g.66633356A>C | CA367695595 | KCTD7 | c.226A>C (p.Met76Leu) c.204A>C c.144+4148A>C (n.144+4148A>C) c.139+4148A>C c.118+4148A>C c.96A>C | |
7 | g.66633356A>G | CA4278205 | KCTD7 | c.226A>G (p.Met76Val) c.204A>G c.144+4148A>G (n.144+4148A>G) c.139+4148A>G c.118+4148A>G c.96A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.66633356A>T | CA367695596 | KCTD7 | c.226A>T (p.Met76Leu) c.204A>T c.144+4148A>T (n.144+4148A>T) c.139+4148A>T c.118+4148A>T c.96A>T | gnomAD v4 |
7 | g.66633357T>A | CA367695598 | KCTD7 | c.227T>A (p.Met76Lys) c.205T>A c.144+4149T>A (n.144+4149T>A) c.139+4149T>A c.118+4149T>A c.97T>A | |
7 | g.66633357T>C | CA4278206 | KCTD7 | c.227T>C (p.Met76Thr) c.205T>C c.144+4149T>C (n.144+4149T>C) c.139+4149T>C c.118+4149T>C c.97T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.66633357T>G | CA367695597 | KCTD7 | c.227T>G (p.Met76Arg) c.205T>G c.144+4149T>G (n.144+4149T>G) c.139+4149T>G c.118+4149T>G c.97T>G | |
7 | g.66633357T= | CA1714174480 | KCTD7 | c.227T= (p.Met76=) c.205T= c.144+4149T= (n.144+4149T=) c.139+4149T= c.118+4149T= c.97T= | |
7 | g.66633358G>A | CA367695599 | KCTD7 | c.228G>A (p.Met76Ile) c.206G>A c.144+4150G>A (n.144+4150G>A) c.139+4150G>A c.118+4150G>A c.98G>A | |
7 | g.66633358G>C | CA367695601 | KCTD7 | c.228G>C (p.Met76Ile) c.206G>C c.144+4150G>C (n.144+4150G>C) c.139+4150G>C c.118+4150G>C c.98G>C | |
7 | g.66633358G>T | CA367695600 | KCTD7 | c.228G>T (p.Met76Ile) c.206G>T c.144+4150G>T (n.144+4150G>T) c.139+4150G>T c.118+4150G>T c.98G>T | |
7 | g.66633359T>A | CA367695602 | KCTD7 | c.229T>A (p.Leu77Met) c.207T>A c.144+4151T>A (n.144+4151T>A) c.139+4151T>A c.118+4151T>A c.99T>A | |
7 | g.66633359T>C | CA455937146 | KCTD7 | c.229T>C (p.Leu77=) c.207T>C c.144+4151T>C (n.144+4151T>C) c.139+4151T>C c.118+4151T>C c.99T>C | |
7 | g.66633359T>G | CA367695603 | KCTD7 | c.229T>G (p.Leu77Val) c.207T>G c.144+4151T>G (n.144+4151T>G) c.139+4151T>G c.118+4151T>G c.99T>G | |
7 | g.66633360T>A | CA367695604 | KCTD7 | c.230T>A (p.Leu77Ter) c.208T>A c.144+4152T>A (n.144+4152T>A) c.139+4152T>A c.118+4152T>A c.100T>A | |
7 | g.66633360T>C | CA367695605 | KCTD7 | c.230T>C (p.Leu77Ser) c.208T>C c.144+4152T>C (n.144+4152T>C) c.139+4152T>C c.118+4152T>C c.100T>C | |
7 | g.66633360T>G | CA367695606 | KCTD7 | c.230T>G (p.Leu77Trp) c.208T>G c.144+4152T>G (n.144+4152T>G) c.139+4152T>G c.118+4152T>G c.100T>G | |
7 | g.66633361G>A | CA455937157 | KCTD7 | c.231G>A (p.Leu77=) c.209G>A c.144+4153G>A (n.144+4153G>A) c.139+4153G>A c.118+4153G>A c.101G>A | |
7 | g.66633361G>C | CA367695607 | KCTD7 | c.231G>C (p.Leu77Phe) c.209G>C c.144+4153G>C (n.144+4153G>C) c.139+4153G>C c.118+4153G>C c.101G>C | |
7 | g.66633361G= | CA1714174481 | KCTD7 | c.231G= (p.Leu77=) c.209G= c.144+4153G= (n.144+4153G=) c.139+4153G= c.118+4153G= c.101G= | |
7 | g.66633361G>T | CA367695608 | KCTD7 | c.231G>T (p.Leu77Phe) c.209G>T c.144+4153G>T (n.144+4153G>T) c.139+4153G>T c.118+4153G>T c.101G>T | ClinVar dbSNP |
7 | g.66633362G>A | CA367695609 | KCTD7 | c.232G>A (p.Ala78Thr) c.210G>A c.144+4154G>A (n.144+4154G>A) c.139+4154G>A c.118+4154G>A c.102G>A | gnomAD v4 |
7 | g.66633362G>C | CA367695610 | KCTD7 | c.232G>C (p.Ala78Pro) c.210G>C c.144+4154G>C (n.144+4154G>C) c.139+4154G>C c.118+4154G>C c.102G>C | |
7 | g.66633362G>T | CA367695611 | KCTD7 | c.232G>T (p.Ala78Ser) c.210G>T c.144+4154G>T (n.144+4154G>T) c.139+4154G>T c.118+4154G>T c.102G>T | |
7 | g.66633363C>A | CA367695614 | KCTD7 | c.233C>A (p.Ala78Glu) c.211C>A c.144+4155C>A (n.144+4155C>A) c.139+4155C>A c.118+4155C>A c.103C>A | |
7 | g.66633363C>G | CA367695613 | KCTD7 | c.233C>G (p.Ala78Gly) c.211C>G c.144+4155C>G (n.144+4155C>G) c.139+4155C>G c.118+4155C>G c.103C>G | |
7 | g.66633363C>T | CA367695612 | KCTD7 | c.233C>T (p.Ala78Val) c.211C>T c.144+4155C>T (n.144+4155C>T) c.139+4155C>T c.118+4155C>T c.103C>T | |
7 | g.66633363_66633371del | CA2683113720 | KCTD7 | c.233_241del (p.Ala78_Phe81delinsVal) c.211_219del c.144+4155_144+4163del (n.144+4155_144+4163del) c.139+4155_139+4163del c.118+4155_118+4163del c.103_111del | gnomAD v4 |
7 | g.66633364A>C | CA455937173 | KCTD7 | c.234A>C (p.Ala78=) c.212A>C c.144+4156A>C (n.144+4156A>C) c.139+4156A>C c.118+4156A>C c.104A>C | |
7 | g.66633364A>G | CA455937175 | KCTD7 | c.234A>G (p.Ala78=) c.212A>G c.144+4156A>G (n.144+4156A>G) c.139+4156A>G c.118+4156A>G c.104A>G | |
7 | g.66633364A>T | CA455937177 | KCTD7 | c.234A>T (p.Ala78=) c.212A>T c.144+4156A>T (n.144+4156A>T) c.139+4156A>T c.118+4156A>T c.104A>T | |
7 | g.66633365G>A | CA367695615 | KCTD7 | c.235G>A (p.Ala79Thr) c.213G>A c.144+4157G>A (n.144+4157G>A) c.139+4157G>A c.118+4157G>A c.105G>A | ClinVar |
7 | g.66633365G>C | CA367695616 | KCTD7 | c.235G>C (p.Ala79Pro) c.213G>C c.144+4157G>C (n.144+4157G>C) c.139+4157G>C c.118+4157G>C c.105G>C | |
7 | g.66633365G>T | CA367695617 | KCTD7 | c.235G>T (p.Ala79Ser) c.213G>T c.144+4157G>T (n.144+4157G>T) c.139+4157G>T c.118+4157G>T c.105G>T | |
7 | g.66633366C>A | CA367695618 | KCTD7 | c.236C>A (p.Ala79Asp) c.214C>A c.144+4158C>A (n.144+4158C>A) c.139+4158C>A c.118+4158C>A c.106C>A | |
7 | g.66633366C>G | CA367695619 | KCTD7 | c.236C>G (p.Ala79Gly) c.214C>G c.144+4158C>G (n.144+4158C>G) c.139+4158C>G c.118+4158C>G c.106C>G | |
7 | g.66633366C>T | CA367695620 | KCTD7 | c.236C>T (p.Ala79Val) c.214C>T c.144+4158C>T (n.144+4158C>T) c.139+4158C>T c.118+4158C>T c.106C>T | |
7 | g.66633367C>A | CA455937190 | KCTD7 | c.237C>A (p.Ala79=) c.215C>A c.144+4159C>A (n.144+4159C>A) c.139+4159C>A c.118+4159C>A c.107C>A | |
7 | g.66633367C>G | CA455937193 | KCTD7 | c.237C>G (p.Ala79=) c.215C>G c.144+4159C>G (n.144+4159C>G) c.139+4159C>G c.118+4159C>G c.107C>G | |
7 | g.66633367C>T | CA455937195 | KCTD7 | c.237C>T (p.Ala79=) c.215C>T c.144+4159C>T (n.144+4159C>T) c.139+4159C>T c.118+4159C>T c.107C>T | |
7 | g.66633368A= | CA1714174482 | KCTD7 | c.238A= (p.Met80=) c.216A= c.144+4160A= (n.144+4160A=) c.139+4160A= c.118+4160A= c.108A= | |
7 | g.66633368A>C | CA367695621 | KCTD7 | c.238A>C (p.Met80Leu) c.216A>C c.144+4160A>C (n.144+4160A>C) c.139+4160A>C c.118+4160A>C c.108A>C | |
7 | g.66633368A>G | CA367695622 | KCTD7 | c.238A>G (p.Met80Val) c.216A>G c.144+4160A>G (n.144+4160A>G) c.139+4160A>G c.118+4160A>G c.108A>G | ClinVar dbSNP |
7 | g.66633368A>T | CA367695623 | KCTD7 | c.238A>T (p.Met80Leu) c.216A>T c.144+4160A>T (n.144+4160A>T) c.139+4160A>T c.118+4160A>T c.108A>T | |
7 | g.66633369T>A | CA367695624 | KCTD7 | c.239T>A (p.Met80Lys) c.217T>A c.144+4161T>A (n.144+4161T>A) c.139+4161T>A c.118+4161T>A c.109T>A | |
7 | g.66633369T>C | CA160219742 | KCTD7 | c.239T>C (p.Met80Thr) c.217T>C c.144+4161T>C (n.144+4161T>C) c.139+4161T>C c.118+4161T>C c.109T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.66633369T>G | CA367695625 | KCTD7 | c.239T>G (p.Met80Arg) c.217T>G c.144+4161T>G (n.144+4161T>G) c.139+4161T>G c.118+4161T>G c.109T>G | |
7 | g.66633369T= | CA1714174483 | KCTD7 | c.239T= (p.Met80=) c.217T= c.144+4161T= (n.144+4161T=) c.139+4161T= c.118+4161T= c.109T= | |
7 | g.66633370G>A | CA4278207 | KCTD7 | c.240G>A (p.Met80Ile) c.218G>A c.144+4162G>A (n.144+4162G>A) c.139+4162G>A c.118+4162G>A c.110G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.66633370G>C | CA367695627 | KCTD7 | c.240G>C (p.Met80Ile) c.218G>C c.144+4162G>C (n.144+4162G>C) c.139+4162G>C c.118+4162G>C c.110G>C | |
7 | g.66633370G= | CA1714174484 | KCTD7 | c.240G= (p.Met80=) c.218G= c.144+4162G= (n.144+4162G=) c.139+4162G= c.118+4162G= c.110G= | |
7 | g.66633370G>T | CA367695626 | KCTD7 | c.240G>T (p.Met80Ile) c.218G>T c.144+4162G>T (n.144+4162G>T) c.139+4162G>T c.118+4162G>T c.110G>T | COSMIC |
7 | g.66633371T>A | CA367695628 | KCTD7 | c.241T>A (p.Phe81Ile) c.219T>A c.144+4163T>A (n.144+4163T>A) c.139+4163T>A c.118+4163T>A c.111T>A | |
7 | g.66633371T>C | CA367695629 | KCTD7 | c.241T>C (p.Phe81Leu) c.219T>C c.144+4163T>C (n.144+4163T>C) c.139+4163T>C c.118+4163T>C c.111T>C | |
7 | g.66633371T>G | CA367695630 | KCTD7 | c.241T>G (p.Phe81Val) c.219T>G c.144+4163T>G (n.144+4163T>G) c.139+4163T>G c.118+4163T>G c.111T>G | |
7 | g.66633372T>A | CA367695631 | KCTD7 | c.242T>A (p.Phe81Tyr) c.220T>A c.144+4164T>A (n.144+4164T>A) c.139+4164T>A c.118+4164T>A c.112T>A | |
7 | g.66633372T>C | CA367695632 | KCTD7 | c.242T>C (p.Phe81Ser) c.220T>C c.144+4164T>C (n.144+4164T>C) c.139+4164T>C c.118+4164T>C c.112T>C | |
7 | g.66633372T>G | CA367695633 | KCTD7 | c.242T>G (p.Phe81Cys) c.220T>G c.144+4164T>G (n.144+4164T>G) c.139+4164T>G c.118+4164T>G c.112T>G | |
7 | g.66633373C>A | CA367695634 | KCTD7 | c.243C>A (p.Phe81Leu) c.221C>A c.144+4165C>A (n.144+4165C>A) c.139+4165C>A c.118+4165C>A c.113C>A | |
7 | g.66633373C= | CA1714174485 | KCTD7 | c.243C= (p.Phe81=) c.221C= c.144+4165C= (n.144+4165C=) c.139+4165C= c.118+4165C= c.113C= | |
7 | g.66633373C>G | CA367695635 | KCTD7 | c.243C>G (p.Phe81Leu) c.221C>G c.144+4165C>G (n.144+4165C>G) c.139+4165C>G c.118+4165C>G c.113C>G | |
7 | g.66633373C>T | CA455937213 | KCTD7 | c.243C>T (p.Phe81=) c.221C>T c.144+4165C>T (n.144+4165C>T) c.139+4165C>T c.118+4165C>T c.113C>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.66633374A= | CA1714174486 | KCTD7 | c.244A= (p.Ser82=) c.222A= c.144+4166A= (n.144+4166A=) c.139+4166A= c.118+4166A= c.114A= | |
7 | g.66633374A>C | CA367695636 | KCTD7 | c.244A>C (p.Ser82Arg) c.222A>C c.144+4166A>C (n.144+4166A>C) c.139+4166A>C c.118+4166A>C c.114A>C | |
7 | g.66633374A>G | CA4278208 | KCTD7 | c.244A>G (p.Ser82Gly) c.222A>G c.144+4166A>G (n.144+4166A>G) c.139+4166A>G c.118+4166A>G c.114A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.66633374A>T | CA367695637 | KCTD7 | c.244A>T (p.Ser82Cys) c.222A>T c.144+4166A>T (n.144+4166A>T) c.139+4166A>T c.118+4166A>T c.114A>T | |
7 | g.66633375G>A | CA367695638 | KCTD7 | c.245G>A (p.Ser82Asn) c.223G>A c.144+4167G>A (n.144+4167G>A) c.139+4167G>A c.118+4167G>A c.115G>A | |
7 | g.66633375G>C | CA367695639 | KCTD7 | c.245G>C (p.Ser82Thr) c.223G>C c.144+4167G>C (n.144+4167G>C) c.139+4167G>C c.118+4167G>C c.115G>C | |
7 | g.66633375G>T | CA367695640 | KCTD7 | c.245G>T (p.Ser82Ile) c.223G>T c.144+4167G>T (n.144+4167G>T) c.139+4167G>T c.118+4167G>T c.115G>T | gnomAD v4 |
7 | g.66633376T>A | CA367695641 | KCTD7 | c.246T>A (p.Ser82Arg) c.224T>A c.144+4168T>A (n.144+4168T>A) c.139+4168T>A c.118+4168T>A c.116T>A | |
7 | g.66633376T>C | CA455937222 | KCTD7 | c.246T>C (p.Ser82=) c.224T>C c.144+4168T>C (n.144+4168T>C) c.139+4168T>C c.118+4168T>C c.116T>C | gnomAD v3 gnomAD v4 |
7 | g.66633376T>G | CA367695642 | KCTD7 | c.246T>G (p.Ser82Arg) c.224T>G c.144+4168T>G (n.144+4168T>G) c.139+4168T>G c.118+4168T>G c.116T>G | |
7 | g.66633377G>A | CA367695643 | KCTD7 | c.247G>A (p.Gly83Arg) c.225G>A c.144+4169G>A (n.144+4169G>A) c.139+4169G>A c.118+4169G>A c.117G>A | |
7 | g.66633377G>C | CA367695644 | KCTD7 | c.247G>C (p.Gly83Arg) c.225G>C c.144+4169G>C (n.144+4169G>C) c.139+4169G>C c.118+4169G>C c.117G>C | |
7 | g.66633377G>T | CA367695645 | KCTD7 | c.247G>T (p.Gly83Trp) c.225G>T c.144+4169G>T (n.144+4169G>T) c.139+4169G>T c.118+4169G>T c.117G>T | |
7 | g.66633378G>A | CA367695646 | KCTD7 | c.248G>A (p.Gly83Glu) c.226G>A c.144+4170G>A (n.144+4170G>A) c.139+4170G>A c.118+4170G>A c.118G>A | |
7 | g.66633378G>C | CA367695647 | KCTD7 | c.248G>C (p.Gly83Ala) c.226G>C c.144+4170G>C (n.144+4170G>C) c.139+4170G>C c.118+4170G>C c.118G>C | |
7 | g.66633378G>T | CA367695648 | KCTD7 | c.248G>T (p.Gly83Val) c.226G>T c.144+4170G>T (n.144+4170G>T) c.139+4170G>T c.118+4170G>T c.118G>T | |
7 | g.66633379G>A | CA455937233 | KCTD7 | c.249G>A (p.Gly83=) c.227G>A c.144+4171G>A (n.144+4171G>A) c.139+4171G>A c.118+4171G>A c.119G>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.66633379G>C | CA455937234 | KCTD7 | c.249G>C (p.Gly83=) c.227G>C c.144+4171G>C (n.144+4171G>C) c.139+4171G>C c.118+4171G>C c.119G>C | |
7 | g.66633379G= | CA1714174487 | KCTD7 | c.249G= (p.Gly83=) c.227G= c.144+4171G= (n.144+4171G=) c.139+4171G= c.118+4171G= c.119G= | |
7 | g.66633379G>T | CA455937236 | KCTD7 | c.249G>T (p.Gly83=) c.227G>T c.144+4171G>T (n.144+4171G>T) c.139+4171G>T c.118+4171G>T c.119G>T | gnomAD v4 COSMIC |
7 | g.66633380_66633381del | CA2683113721 | KCTD7 | c.250_251del (p.Arg84AlafsTer?) c.228_229del c.144+4172_144+4173del (n.144+4172_144+4173del) c.139+4172_139+4173del c.118+4172_118+4173del c.120_121del | gnomAD v4 |
7 | g.66633380C>A | CA455937240 | KCTD7 | c.250C>A (p.Arg84=) c.228C>A c.144+4172C>A (n.144+4172C>A) c.139+4172C>A c.118+4172C>A c.120C>A | |
7 | g.66633380C= | CA1714174488 | KCTD7 | c.250C= (p.Arg84=) c.228C= c.144+4172C= (n.144+4172C=) c.139+4172C= c.118+4172C= c.120C= | |
7 | g.66633380C>G | CA367695649 | KCTD7 | c.250C>G (p.Arg84Gly) c.228C>G c.144+4172C>G (n.144+4172C>G) c.139+4172C>G c.118+4172C>G c.120C>G | |
7 | g.66633380C>T | CA4278209 | KCTD7 | c.250C>T (p.Arg84Trp) c.228C>T c.144+4172C>T (n.144+4172C>T) c.139+4172C>T c.118+4172C>T c.120C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.66633381G>A | CA4278210 | KCTD7 | c.251G>A (p.Arg84Gln) c.229G>A c.144+4173G>A (n.144+4173G>A) c.139+4173G>A c.118+4173G>A c.121G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.66633381G>C | CA367695650 | KCTD7 | c.251G>C (p.Arg84Pro) c.229G>C c.144+4173G>C (n.144+4173G>C) c.139+4173G>C c.118+4173G>C c.121G>C | |
7 | g.66633381G= | CA1714174489 | KCTD7 | c.251G= (p.Arg84=) c.229G= c.144+4173G= (n.144+4173G=) c.139+4173G= c.118+4173G= c.121G= | |
7 | g.66633381G>T | CA367695651 | KCTD7 | c.251G>T (p.Arg84Leu) c.229G>T c.144+4173G>T (n.144+4173G>T) c.139+4173G>T c.118+4173G>T c.121G>T | COSMIC |
7 | g.66633382G>A | CA455937246 | KCTD7 | c.252G>A (p.Arg84=) c.230G>A c.144+4174G>A (n.144+4174G>A) c.139+4174G>A c.118+4174G>A c.122G>A | ClinVar |
7 | g.66633382G>C | CA455937247 | KCTD7 | c.252G>C (p.Arg84=) c.230G>C c.144+4174G>C (n.144+4174G>C) c.139+4174G>C c.118+4174G>C c.122G>C | gnomAD v4 |
7 | g.66633382G>T | CA455937249 | KCTD7 | c.252G>T (p.Arg84=) c.230G>T c.144+4174G>T (n.144+4174G>T) c.139+4174G>T c.118+4174G>T c.122G>T | |
7 | g.66633383C>A | CA367695652 | KCTD7 | c.253C>A (p.His85Asn) c.231C>A c.144+4175C>A (n.144+4175C>A) c.139+4175C>A c.118+4175C>A c.123C>A | |
7 | g.66633383C>G | CA367695653 | KCTD7 | c.253C>G (p.His85Asp) c.231C>G c.144+4175C>G (n.144+4175C>G) c.139+4175C>G c.118+4175C>G c.123C>G | |
7 | g.66633383C>T | CA367695654 | KCTD7 | c.253C>T (p.His85Tyr) c.231C>T c.144+4175C>T (n.144+4175C>T) c.139+4175C>T c.118+4175C>T c.123C>T | |
7 | g.66633384A= | CA1714174490 | KCTD7 | c.254A= (p.His85=) c.232A= c.144+4176A= (n.144+4176A=) c.139+4176A= c.118+4176A= c.124A= | |
7 | g.66633384A>C | CA367695656 | KCTD7 | c.254A>C (p.His85Pro) c.232A>C c.144+4176A>C (n.144+4176A>C) c.139+4176A>C c.118+4176A>C c.124A>C | |
7 | g.66633384A>G | CA367695657 | KCTD7 | c.254A>G (p.His85Arg) c.232A>G c.144+4176A>G (n.144+4176A>G) c.139+4176A>G c.118+4176A>G c.124A>G | dbSNP gnomAD v4 |
7 | g.66633384A>T | CA367695655 | KCTD7 | c.254A>T (p.His85Leu) c.232A>T c.144+4176A>T (n.144+4176A>T) c.139+4176A>T c.118+4176A>T c.124A>T | gnomAD v4 |
7 | g.66633385C>A | CA367695659 | KCTD7 | c.255C>A (p.His85Gln) c.233C>A c.144+4177C>A (n.144+4177C>A) c.139+4177C>A c.118+4177C>A c.125C>A | |
7 | g.66633385C= | CA1714174491 | KCTD7 | c.255C= (p.His85=) c.233C= c.144+4177C= (n.144+4177C=) c.139+4177C= c.118+4177C= c.125C= | |
7 | g.66633385C>G | CA367695658 | KCTD7 | c.255C>G (p.His85Gln) c.233C>G c.144+4177C>G (n.144+4177C>G) c.139+4177C>G c.118+4177C>G c.125C>G | |
7 | g.66633385C>T | CA4278211 | KCTD7 | c.255C>T (p.His85=) c.233C>T c.144+4177C>T (n.144+4177C>T) c.139+4177C>T c.118+4177C>T c.125C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.66633386T>A | CA367695660 | KCTD7 | c.256T>A (p.Tyr86Asn) c.234T>A c.144+4178T>A (n.144+4178T>A) c.139+4178T>A c.118+4178T>A c.126T>A | |
7 | g.66633386T>C | CA315687 | KCTD7 | c.256T>C (p.Tyr86His) c.234T>C c.144+4178T>C (n.144+4178T>C) c.139+4178T>C c.118+4178T>C c.126T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.66633386T>G | CA160219743 | KCTD7 | c.256T>G (p.Tyr86Asp) c.234T>G c.144+4178T>G (n.144+4178T>G) c.139+4178T>G c.118+4178T>G c.126T>G | dbSNP gnomAD v3 gnomAD v4 |
7 | g.66633386T= | CA1714174492 | KCTD7 | c.256T= (p.Tyr86=) c.234T= c.144+4178T= (n.144+4178T=) c.139+4178T= c.118+4178T= c.126T= | |
7 | g.66633387A= | CA1714174493 | KCTD7 | c.257A= (p.Tyr86=) c.235A= c.144+4179A= (n.144+4179A=) c.139+4179A= c.118+4179A= c.127A= | |
7 | g.66633387A>C | CA367695661 | KCTD7 | c.257A>C (p.Tyr86Ser) c.235A>C c.144+4179A>C (n.144+4179A>C) c.139+4179A>C c.118+4179A>C c.127A>C | |
7 | g.66633387A>G | CA4278212 | KCTD7 | c.257A>G (p.Tyr86Cys) c.235A>G c.144+4179A>G (n.144+4179A>G) c.139+4179A>G c.118+4179A>G c.127A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.66633387A>T | CA367695662 | KCTD7 | c.257A>T (p.Tyr86Phe) c.235A>T c.144+4179A>T (n.144+4179A>T) c.139+4179A>T c.118+4179A>T c.127A>T | |
7 | g.66633388C>A | CA367695663 | KCTD7 | c.258C>A (p.Tyr86Ter) c.236C>A c.144+4180C>A (n.144+4180C>A) c.139+4180C>A c.118+4180C>A c.128C>A | |
7 | g.66633388C= | CA1714174494 | KCTD7 | c.258C= (p.Tyr86=) c.236C= c.144+4180C= (n.144+4180C=) c.139+4180C= c.118+4180C= c.128C= | |
7 | g.66633388C>G | CA367695664 | KCTD7 | c.258C>G (p.Tyr86Ter) c.236C>G c.144+4180C>G (n.144+4180C>G) c.139+4180C>G c.118+4180C>G c.128C>G | |
7 | g.66633388C>T | CA4278213 | KCTD7 | c.258C>T (p.Tyr86=) c.236C>T c.144+4180C>T (n.144+4180C>T) c.139+4180C>T c.118+4180C>T c.128C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.66633389A= | CA1714174495 | KCTD7 | c.259A= (p.Ile87=) c.237A= c.144+4181A= (n.144+4181A=) c.139+4181A= c.118+4181A= c.129A= | |
7 | g.66633389A>C | CA367695665 | KCTD7 | c.259A>C (p.Ile87Leu) c.237A>C c.144+4181A>C (n.144+4181A>C) c.139+4181A>C c.118+4181A>C c.129A>C | |
7 | g.66633389A>G | CA367695666 | KCTD7 | c.259A>G (p.Ile87Val) c.237A>G c.144+4181A>G (n.144+4181A>G) c.139+4181A>G c.118+4181A>G c.129A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.66633389A>T | CA367695667 | KCTD7 | c.259A>T (p.Ile87Phe) c.237A>T c.144+4181A>T (n.144+4181A>T) c.139+4181A>T c.118+4181A>T c.129A>T | |
7 | g.66633390T>A | CA367695668 | KCTD7 | c.260T>A (p.Ile87Asn) c.238T>A c.144+4182T>A (n.144+4182T>A) c.139+4182T>A c.118+4182T>A c.130T>A | |
7 | g.66633390T>C | CA367695669 | KCTD7 | c.260T>C (p.Ile87Thr) c.238T>C c.144+4182T>C (n.144+4182T>C) c.139+4182T>C c.118+4182T>C c.130T>C | |
7 | g.66633390T>G | CA367695670 | KCTD7 | c.260T>G (p.Ile87Ser) c.238T>G c.144+4182T>G (n.144+4182T>G) c.139+4182T>G c.118+4182T>G c.130T>G | |
7 | g.66633391C>A | CA455937277 | KCTD7 | c.261C>A (p.Ile87=) c.239C>A c.144+4183C>A (n.144+4183C>A) c.139+4183C>A c.118+4183C>A c.131C>A | |
7 | g.66633391C>G | CA367695671 | KCTD7 | c.261C>G (p.Ile87Met) c.239C>G c.144+4183C>G (n.144+4183C>G) c.139+4183C>G c.118+4183C>G c.131C>G | |
7 | g.66633391C>T | CA455937279 | KCTD7 | c.261C>T (p.Ile87=) c.239C>T c.144+4183C>T (n.144+4183C>T) c.139+4183C>T c.118+4183C>T c.131C>T | |
7 | g.66633392C>A | CA367695672 | KCTD7 | c.262C>A (p.Pro88Thr) c.240C>A c.144+4184C>A (n.144+4184C>A) c.139+4184C>A c.118+4184C>A c.132C>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.66633392C= | CA1714174496 | KCTD7 | c.262C= (p.Pro88=) c.240C= c.144+4184C= (n.144+4184C=) c.139+4184C= c.118+4184C= c.132C= | |
7 | g.66633392C>G | CA367695674 | KCTD7 | c.262C>G (p.Pro88Ala) c.240C>G c.144+4184C>G (n.144+4184C>G) c.139+4184C>G c.118+4184C>G c.132C>G | |
7 | g.66633392C>T | CA367695673 | KCTD7 | c.262C>T (p.Pro88Ser) c.240C>T c.144+4184C>T (n.144+4184C>T) c.139+4184C>T c.118+4184C>T c.132C>T | gnomAD v4 |
7 | g.66633393C>A | CA367695675 | KCTD7 | c.263C>A (p.Pro88His) c.241C>A c.144+4185C>A (n.144+4185C>A) c.139+4185C>A c.118+4185C>A c.133C>A | |
7 | g.66633393C>G | CA367695676 | KCTD7 | c.263C>G (p.Pro88Arg) c.241C>G c.144+4185C>G (n.144+4185C>G) c.139+4185C>G c.118+4185C>G c.133C>G | |
7 | g.66633393C>T | CA367695677 | KCTD7 | c.263C>T (p.Pro88Leu) c.241C>T c.144+4185C>T (n.144+4185C>T) c.139+4185C>T c.118+4185C>T c.133C>T | |
7 | g.66633394C>A | CA455937291 | KCTD7 | c.264C>A (p.Pro88=) c.242C>A c.144+4186C>A (n.144+4186C>A) c.139+4186C>A c.118+4186C>A c.134C>A | |
7 | g.66633394C= | CA1714174497 | KCTD7 | c.264C= (p.Pro88=) c.242C= c.144+4186C= (n.144+4186C=) c.139+4186C= c.118+4186C= c.134C= | |
7 | g.66633394C>G | CA455937294 | KCTD7 | c.264C>G (p.Pro88=) c.242C>G c.144+4186C>G (n.144+4186C>G) c.139+4186C>G c.118+4186C>G c.134C>G | |
7 | g.66633394C>T | CA160219744 | KCTD7 | c.264C>T (p.Pro88=) c.242C>T c.144+4186C>T (n.144+4186C>T) c.139+4186C>T c.118+4186C>T c.134C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.66633395A>C | CA367695678 | KCTD7 | c.265A>C (p.Thr89Pro) c.243A>C c.144+4187A>C (n.144+4187A>C) c.139+4187A>C c.118+4187A>C c.135A>C | |
7 | g.66633395A>G | CA367695679 | KCTD7 | c.265A>G (p.Thr89Ala) c.243A>G c.144+4187A>G (n.144+4187A>G) c.139+4187A>G c.118+4187A>G c.135A>G | |
7 | g.66633395A>T | CA367695680 | KCTD7 | c.265A>T (p.Thr89Ser) c.243A>T c.144+4187A>T (n.144+4187A>T) c.139+4187A>T c.118+4187A>T c.135A>T | |
7 | g.66633396C>A | CA367695681 | KCTD7 | c.266C>A (p.Thr89Lys) c.244C>A c.144+4188C>A (n.144+4188C>A) c.139+4188C>A c.118+4188C>A c.136C>A | |
7 | g.66633396C= | CA1714174498 | KCTD7 | c.266C= (p.Thr89=) c.244C= c.144+4188C= (n.144+4188C=) c.139+4188C= c.118+4188C= c.136C= | |
7 | g.66633396C>G | CA367695682 | KCTD7 | c.266C>G (p.Thr89Arg) c.244C>G c.144+4188C>G (n.144+4188C>G) c.139+4188C>G c.118+4188C>G c.136C>G | |
7 | g.66633396C>T | CA4278214 | KCTD7 | c.266C>T (p.Thr89Met) c.244C>T c.144+4188C>T (n.144+4188C>T) c.139+4188C>T c.118+4188C>T c.136C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.66633397G>A | CA288947 | KCTD7 | c.267G>A (p.Thr89=) c.245G>A c.144+4189G>A (n.144+4189G>A) c.139+4189G>A c.118+4189G>A c.137G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.66633397G>C | CA455937303 | KCTD7 | c.267G>C (p.Thr89=) c.245G>C c.144+4189G>C (n.144+4189G>C) c.139+4189G>C c.118+4189G>C c.137G>C | dbSNP |
7 | g.66633397G= | CA1714174499 | KCTD7 | c.267G= (p.Thr89=) c.245G= c.144+4189G= (n.144+4189G=) c.139+4189G= c.118+4189G= c.137G= | |
7 | g.66633397G>T | CA455937304 | KCTD7 | c.267G>T (p.Thr89=) c.245G>T c.144+4189G>T (n.144+4189G>T) c.139+4189G>T c.118+4189G>T c.137G>T | |
7 | g.66633398G>A | CA367695685 | KCTD7 | c.268G>A (p.Asp90Asn) c.246G>A c.144+4190G>A (n.144+4190G>A) c.139+4190G>A c.118+4190G>A c.138G>A | COSMIC |
7 | g.66633398G>C | CA367695684 | KCTD7 | c.268G>C (p.Asp90His) c.246G>C c.144+4190G>C (n.144+4190G>C) c.139+4190G>C c.118+4190G>C c.138G>C | |
7 | g.66633398G>T | CA367695683 | KCTD7 | c.268G>T (p.Asp90Tyr) c.246G>T c.144+4190G>T (n.144+4190G>T) c.139+4190G>T c.118+4190G>T c.138G>T | |
7 | g.66633399A>C | CA367695688 | KCTD7 | c.269A>C (p.Asp90Ala) c.247A>C c.144+4191A>C (n.144+4191A>C) c.139+4191A>C c.118+4191A>C c.139A>C | |
7 | g.66633399A>G | CA367695686 | KCTD7 | c.269A>G (p.Asp90Gly) c.247A>G c.144+4191A>G (n.144+4191A>G) c.139+4191A>G c.118+4191A>G c.139A>G | |
7 | g.66633399A>T | CA367695687 | KCTD7 | c.269A>T (p.Asp90Val) c.247A>T c.144+4191A>T (n.144+4191A>T) c.139+4191A>T c.118+4191A>T c.139A>T | |
7 | g.66633400C>A | CA367695689 | KCTD7 | c.270C>A (p.Asp90Glu) c.248C>A c.144+4192C>A (n.144+4192C>A) c.139+4192C>A c.118+4192C>A c.140C>A | |
7 | g.66633400C= | CA1714174500 | KCTD7 | c.270C= (p.Asp90=) c.248C= c.144+4192C= (n.144+4192C=) c.139+4192C= c.118+4192C= c.140C= | |
7 | g.66633400C>G | CA367695690 | KCTD7 | c.270C>G (p.Asp90Glu) c.248C>G c.144+4192C>G (n.144+4192C>G) c.139+4192C>G c.118+4192C>G c.140C>G | |
7 | g.66633400C>T | CA4278215 | KCTD7 | c.270C>T (p.Asp90=) c.248C>T c.144+4192C>T (n.144+4192C>T) c.139+4192C>T c.118+4192C>T c.140C>T | ClinVar dbSNP ExAC |
7 | g.66633401T>A | CA367695691 | KCTD7 | c.271T>A (p.Ser91Thr) c.249T>A c.144+4193T>A (n.144+4193T>A) c.139+4193T>A c.118+4193T>A c.141T>A | |
7 | g.66633401T>C | CA367695692 | KCTD7 | c.271T>C (p.Ser91Pro) c.249T>C c.144+4193T>C (n.144+4193T>C) c.139+4193T>C c.118+4193T>C c.141T>C | |
7 | g.66633401T>G | CA367695693 | KCTD7 | c.271T>G (p.Ser91Ala) c.249T>G c.144+4193T>G (n.144+4193T>G) c.139+4193T>G c.118+4193T>G c.141T>G | |
7 | g.66633402C>A | CA367695694 | KCTD7 | c.272C>A (p.Ser91Tyr) c.250C>A c.144+4194C>A (n.144+4194C>A) c.139+4194C>A c.118+4194C>A c.142C>A | |
7 | g.66633402C>G | CA367695695 | KCTD7 | c.272C>G (p.Ser91Cys) c.250C>G c.144+4194C>G (n.144+4194C>G) c.139+4194C>G c.118+4194C>G c.142C>G | |
7 | g.66633402C>T | CA367695696 | KCTD7 | c.272C>T (p.Ser91Phe) c.250C>T c.144+4194C>T (n.144+4194C>T) c.139+4194C>T c.118+4194C>T c.142C>T | |
7 | g.66633403C>A | CA455937326 | KCTD7 | c.273C>A (p.Ser91=) c.251C>A c.144+4195C>A (n.144+4195C>A) c.139+4195C>A c.118+4195C>A c.143C>A | |
7 | g.66633403C= | CA1714174501 | KCTD7 | c.273C= (p.Ser91=) c.251C= c.144+4195C= (n.144+4195C=) c.139+4195C= c.118+4195C= c.143C= | |
7 | g.66633403C>G | CA455937329 | KCTD7 | c.273C>G (p.Ser91=) c.251C>G c.144+4195C>G (n.144+4195C>G) c.139+4195C>G c.118+4195C>G c.143C>G | |
7 | g.66633403C>T | CA315679 | KCTD7 | c.273C>T (p.Ser91=) c.251C>T c.144+4195C>T (n.144+4195C>T) c.139+4195C>T c.118+4195C>T c.143C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.66633404G>A | CA4278216 | KCTD7 | c.274G>A (p.Glu92Lys) c.252G>A c.144+4196G>A (n.144+4196G>A) c.139+4196G>A c.118+4196G>A c.144G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
7 | g.66633404G>C | CA367695698 | KCTD7 | c.274G>C (p.Glu92Gln) c.252G>C c.144+4196G>C (n.144+4196G>C) c.139+4196G>C c.118+4196G>C c.144G>C | |
7 | g.66633404G= | CA1714174502 | KCTD7 | c.274G= (p.Glu92=) c.252G= c.144+4196G= (n.144+4196G=) c.139+4196G= c.118+4196G= c.144G= | |
7 | g.66633404G>T | CA367695697 | KCTD7 | c.274G>T (p.Glu92Ter) c.252G>T c.144+4196G>T (n.144+4196G>T) c.139+4196G>T c.118+4196G>T c.144G>T | |
7 | g.66633405A= | CA1714174503 | KCTD7 | c.275A= (p.Glu92=) c.253A= c.144+4197A= (n.144+4197A=) c.139+4197A= c.118+4197A= c.145A= | |
7 | g.66633405A>C | CA367695699 | KCTD7 | c.275A>C (p.Glu92Ala) c.253A>C c.144+4197A>C (n.144+4197A>C) c.139+4197A>C c.118+4197A>C c.145A>C | |
7 | g.66633405A>G | CA160219745 | KCTD7 | c.275A>G (p.Glu92Gly) c.253A>G c.144+4197A>G (n.144+4197A>G) c.139+4197A>G c.118+4197A>G c.145A>G | dbSNP gnomAD v4 |
7 | g.66633405A>T | CA367695700 | KCTD7 | c.275A>T (p.Glu92Val) c.253A>T c.144+4197A>T (n.144+4197A>T) c.139+4197A>T c.118+4197A>T c.145A>T | |
7 | g.66633406G>A | CA455937341 | KCTD7 | c.276G>A (p.Glu92=) c.254G>A c.144+4198G>A (n.144+4198G>A) c.139+4198G>A c.118+4198G>A c.146G>A | |
7 | g.66633406G>C | CA367695701 | KCTD7 | c.276G>C (p.Glu92Asp) c.254G>C c.144+4198G>C (n.144+4198G>C) c.139+4198G>C c.118+4198G>C c.146G>C | |
7 | g.66633406G>T | CA367695702 | KCTD7 | c.276G>T (p.Glu92Asp) c.254G>T c.144+4198G>T (n.144+4198G>T) c.139+4198G>T c.118+4198G>T c.146G>T | |
7 | g.66633407G>A | CA367695703 | KCTD7 | c.277G>A (p.Gly93Ser) c.255G>A c.144+4199G>A (n.144+4199G>A) c.139+4199G>A c.118+4199G>A c.147G>A | |
7 | g.66633407G>C | CA367695704 | KCTD7 | c.277G>C (p.Gly93Arg) c.255G>C c.144+4199G>C (n.144+4199G>C) c.139+4199G>C c.118+4199G>C c.147G>C | |
7 | g.66633407G>T | CA367695705 | KCTD7 | c.277G>T (p.Gly93Cys) c.255G>T c.144+4199G>T (n.144+4199G>T) c.139+4199G>T c.118+4199G>T c.147G>T | |
7 | g.66633408G>A | CA367695706 | KCTD7 | c.278G>A (p.Gly93Asp) c.256G>A c.144+4200G>A (n.144+4200G>A) c.139+4200G>A c.118+4200G>A c.148G>A | ClinVar dbSNP |
7 | g.66633408G>C | CA160219746 | KCTD7 | c.278G>C (p.Gly93Ala) c.256G>C c.144+4200G>C (n.144+4200G>C) c.139+4200G>C c.118+4200G>C c.148G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.66633408G= | CA1714174504 | KCTD7 | c.278G= (p.Gly93=) c.256G= c.144+4200G= (n.144+4200G=) c.139+4200G= c.118+4200G= c.148G= | |
7 | g.66633408G>T | CA367695707 | KCTD7 | c.278G>T (p.Gly93Val) c.256G>T c.144+4200G>T (n.144+4200G>T) c.139+4200G>T c.118+4200G>T c.148G>T | |
7 | g.66633409C>A | CA455937357 | KCTD7 | c.279C>A (p.Gly93=) c.257C>A c.144+4201C>A (n.144+4201C>A) c.139+4201C>A c.118+4201C>A c.149C>A | |
7 | g.66633409C= | CA1714174505 | KCTD7 | c.279C= (p.Gly93=) c.257C= c.144+4201C= (n.144+4201C=) c.139+4201C= c.118+4201C= c.149C= | |
7 | g.66633409C>G | CA455937358 | KCTD7 | c.279C>G (p.Gly93=) c.257C>G c.144+4201C>G (n.144+4201C>G) c.139+4201C>G c.118+4201C>G c.149C>G | gnomAD v4 |
7 | g.66633409C>T | CA455937361 | KCTD7 | c.279C>T (p.Gly93=) c.257C>T c.144+4201C>T (n.144+4201C>T) c.139+4201C>T c.118+4201C>T c.149C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.66633410C>A | CA455937364 | KCTD7 | c.280C>A (p.Arg94=) c.258C>A c.144+4202C>A (n.144+4202C>A) c.139+4202C>A c.118+4202C>A c.150C>A | |
7 | g.66633410C= | CA1714174506 | KCTD7 | c.280C= (p.Arg94=) c.258C= c.144+4202C= (n.144+4202C=) c.139+4202C= c.118+4202C= c.150C= | |
7 | g.66633410C>G | CA367695708 | KCTD7 | c.280C>G (p.Arg94Gly) c.258C>G c.144+4202C>G (n.144+4202C>G) c.139+4202C>G c.118+4202C>G c.150C>G | |
7 | g.66633410C>T | CA130028 | KCTD7 | c.280C>T (p.Arg94Trp) c.258C>T c.144+4202C>T (n.144+4202C>T) c.139+4202C>T c.118+4202C>T c.150C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
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 |