Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.66633610dup | CA575145152 | KCTD7 | c.314+166dup (n.314+166dup) c.292+166dup c.144+4402dup (n.144+4402dup) c.139+4402dup c.118+4402dup c.184+166dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.66633609_66633610dup | CA841292966 | KCTD7 | c.314+165_314+166dup (n.314+165_314+166dup) c.292+165_292+166dup c.144+4401_144+4402dup (n.144+4401_144+4402dup) c.139+4401_139+4402dup c.118+4401_118+4402dup c.184+165_184+166dup | dbSNP gnomAD v3 gnomAD v4 |
7 | g.66633608_66633610dup | CA841292957 | KCTD7 | c.314+164_314+166dup (n.314+164_314+166dup) c.292+164_292+166dup c.144+4400_144+4402dup (n.144+4400_144+4402dup) c.139+4400_139+4402dup c.118+4400_118+4402dup c.184+164_184+166dup | dbSNP gnomAD v3 gnomAD v4 |
7 | g.66633607_66633610dup | CA2683113831 | KCTD7 | c.314+163_314+166dup (n.314+163_314+166dup) c.292+163_292+166dup c.144+4399_144+4402dup (n.144+4399_144+4402dup) c.139+4399_139+4402dup c.118+4399_118+4402dup c.184+163_184+166dup | gnomAD v4 |
7 | g.66633606_66633610dup | CA2683113827 | KCTD7 | c.314+162_314+166dup (n.314+162_314+166dup) c.292+162_292+166dup c.144+4398_144+4402dup (n.144+4398_144+4402dup) c.139+4398_139+4402dup c.118+4398_118+4402dup c.184+162_184+166dup | gnomAD v4 |
7 | g.66633605_66633610dup | CA2683113828 | KCTD7 | c.314+161_314+166dup (n.314+161_314+166dup) c.292+161_292+166dup c.144+4397_144+4402dup (n.144+4397_144+4402dup) c.139+4397_139+4402dup c.118+4397_118+4402dup c.184+161_184+166dup | gnomAD v4 |
7 | g.66633604_66633610dup | CA2683113829 | KCTD7 | c.314+160_314+166dup (n.314+160_314+166dup) c.292+160_292+166dup c.144+4396_144+4402dup (n.144+4396_144+4402dup) c.139+4396_139+4402dup c.118+4396_118+4402dup c.184+160_184+166dup | gnomAD v4 |
7 | g.66633610del | CA160219760 | KCTD7 | c.314+166del (n.314+166del) c.292+166del c.144+4402del (n.144+4402del) c.139+4402del c.118+4402del c.184+166del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.66633609_66633610del | CA575145155 | KCTD7 | c.314+165_314+166del (n.314+165_314+166del) c.292+165_292+166del c.144+4401_144+4402del (n.144+4401_144+4402del) c.139+4401_139+4402del c.118+4401_118+4402del c.184+165_184+166del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.66633608_66633610del | CA575145157 | KCTD7 | c.314+164_314+166del (n.314+164_314+166del) c.292+164_292+166del c.144+4400_144+4402del (n.144+4400_144+4402del) c.139+4400_139+4402del c.118+4400_118+4402del c.184+164_184+166del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.66633607_66633610del | CA1102440374 | KCTD7 | c.314+163_314+166del (n.314+163_314+166del) c.292+163_292+166del c.144+4399_144+4402del (n.144+4399_144+4402del) c.139+4399_139+4402del c.118+4399_118+4402del c.184+163_184+166del | dbSNP gnomAD v3 gnomAD v4 |
7 | g.66633606_66633610del | CA1102440365 | KCTD7 | c.314+162_314+166del (n.314+162_314+166del) c.292+162_292+166del c.144+4398_144+4402del (n.144+4398_144+4402del) c.139+4398_139+4402del c.118+4398_118+4402del c.184+162_184+166del | dbSNP gnomAD v3 gnomAD v4 |
7 | g.66633605_66633610del | CA2517884743 | KCTD7 | c.314+161_314+166del (n.314+161_314+166del) c.292+161_292+166del c.144+4397_144+4402del (n.144+4397_144+4402del) c.139+4397_139+4402del c.118+4397_118+4402del c.184+161_184+166del | gnomAD v4 |
7 | g.66633603_66633610del | CA1714174611 | KCTD7 | c.314+159_314+166del (n.314+159_314+166del) c.292+159_292+166del c.144+4395_144+4402del (n.144+4395_144+4402del) c.139+4395_139+4402del c.118+4395_118+4402del c.184+159_184+166del | dbSNP |
7 | g.66633605T>A | CA575145163 | KCTD7 | c.314+161T>A (n.314+161T>A) c.292+161T>A c.144+4397T>A (n.144+4397T>A) c.139+4397T>A c.118+4397T>A c.184+161T>A | gnomAD v2 |
7 | g.66633606T>A | CA841292992 | KCTD7 | c.314+162T>A (n.314+162T>A) c.292+162T>A c.144+4398T>A (n.144+4398T>A) c.139+4398T>A c.118+4398T>A c.184+162T>A | dbSNP |
7 | g.66633606T>C | CA575145166 | KCTD7 | c.314+162T>C (n.314+162T>C) c.292+162T>C c.144+4398T>C (n.144+4398T>C) c.139+4398T>C c.118+4398T>C c.184+162T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.66633606T= | CA1714174616 | KCTD7 | c.314+162T= (n.314+162T=) c.292+162T= c.144+4398T= (n.144+4398T=) c.139+4398T= c.118+4398T= c.184+162T= | |
7 | g.66633610T>G | CA575145167 | KCTD7 | c.314+166T>G (n.314+166T>G) c.292+166T>G c.144+4402T>G (n.144+4402T>G) c.139+4402T>G c.118+4402T>G c.184+166T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.66633610T= | CA1714174618 | KCTD7 | c.314+166T= (n.314+166T=) c.292+166T= c.144+4402T= (n.144+4402T=) c.139+4402T= c.118+4402T= c.184+166T= | |
7 | g.66633610_66633611del | CA1102440401 | KCTD7 | c.314+166_314+167del (n.314+166_314+167del) c.292+166_292+167del c.144+4402_144+4403del (n.144+4402_144+4403del) c.139+4402_139+4403del c.118+4402_118+4403del c.184+166_184+167del | gnomAD v3 gnomAD v4 |
7 | g.66633610_66633611delinsTG | CA1714174617 | KCTD7 | c.314+166_314+167delinsTG (n.314+166_314+167delinsTG) c.292+166_292+167delinsTG c.144+4402_144+4403delinsTG (n.144+4402_144+4403delinsTG) c.139+4402_139+4403delinsTG c.118+4402_118+4403delinsTG c.184+166_184+167delinsTG | |
7 | g.66633611del | CA160219764 | KCTD7 | c.314+167del (n.314+167del) c.292+167del c.144+4403del (n.144+4403del) c.139+4403del c.118+4403del c.184+167del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.66633611G= | CA1714174619 | KCTD7 | c.314+167G= (n.314+167G=) c.292+167G= c.144+4403G= (n.144+4403G=) c.139+4403G= c.118+4403G= c.184+167G= | |
7 | g.66633611G>T | CA160219765 | KCTD7 | c.314+167G>T (n.314+167G>T) c.292+167G>T c.144+4403G>T (n.144+4403G>T) c.139+4403G>T c.118+4403G>T c.184+167G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.66633611_66633612del | CA1102440423 | KCTD7 | c.314+167_314+168del (n.314+167_314+168del) c.292+167_292+168del c.144+4403_144+4404del (n.144+4403_144+4404del) c.139+4403_139+4404del c.118+4403_118+4404del c.184+167_184+168del | gnomAD v3 gnomAD v4 |
7 | g.66633611_66633614del | CA575145169 | KCTD7 | c.314+167_314+170del (n.314+167_314+170del) c.292+167_292+170del c.144+4403_144+4406del (n.144+4403_144+4406del) c.139+4403_139+4406del c.118+4403_118+4406del c.184+167_184+170del | gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.66633611_66633615del | CA1102440420 | KCTD7 | c.314+167_314+171del (n.314+167_314+171del) c.292+167_292+171del c.144+4403_144+4407del (n.144+4403_144+4407del) c.139+4403_139+4407del c.118+4403_118+4407del c.184+167_184+171del | gnomAD v3 gnomAD v4 |
7 | g.66633611_66633618del | CA1102440424 | KCTD7 | c.314+167_314+174del (n.314+167_314+174del) c.292+167_292+174del c.144+4403_144+4410del (n.144+4403_144+4410del) c.139+4403_139+4410del c.118+4403_118+4410del c.184+167_184+174del | |
7 | g.66633612_66633618del | CA1102440419 | KCTD7 | c.314+168_314+174del (n.314+168_314+174del) c.292+168_292+174del c.144+4404_144+4410del (n.144+4404_144+4410del) c.139+4404_139+4410del c.118+4404_118+4410del c.184+168_184+174del | gnomAD v3 gnomAD v4 |
7 | g.66633611_66633621del | CA1102440417 | KCTD7 | c.314+167_314+177del (n.314+167_314+177del) c.292+167_292+177del c.144+4403_144+4413del (n.144+4403_144+4413del) c.139+4403_139+4413del c.118+4403_118+4413del c.184+167_184+177del | gnomAD v3 gnomAD v4 |
7 | g.66633611_66633622del | CA1102440412 | KCTD7 | c.314+167_314+178del (n.314+167_314+178del) c.292+167_292+178del c.144+4403_144+4414del (n.144+4403_144+4414del) c.139+4403_139+4414del c.118+4403_118+4414del c.184+167_184+178del | gnomAD v3 gnomAD v4 |
7 | g.66633611_66633623del | CA1102440409 | KCTD7 | c.314+167_314+179del (n.314+167_314+179del) c.292+167_292+179del c.144+4403_144+4415del (n.144+4403_144+4415del) c.139+4403_139+4415del c.118+4403_118+4415del c.184+167_184+179del | gnomAD v3 gnomAD v4 |
7 | g.66633612C>A | CA1102440448 | KCTD7 | c.314+168C>A (n.314+168C>A) c.292+168C>A c.144+4404C>A (n.144+4404C>A) c.139+4404C>A c.118+4404C>A c.184+168C>A | gnomAD v3 gnomAD v4 |
7 | g.66633612C= | CA1714174620 | KCTD7 | c.314+168C= (n.314+168C=) c.292+168C= c.144+4404C= (n.144+4404C=) c.139+4404C= c.118+4404C= c.184+168C= | |
7 | g.66633612C>G | CA1714174621 | KCTD7 | c.314+168C>G (n.314+168C>G) c.292+168C>G c.144+4404C>G (n.144+4404C>G) c.139+4404C>G c.118+4404C>G c.184+168C>G | dbSNP |
7 | g.66633612C>T | CA575145172 | KCTD7 | c.314+168C>T (n.314+168C>T) c.292+168C>T c.144+4404C>T (n.144+4404C>T) c.139+4404C>T c.118+4404C>T c.184+168C>T | gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.66633613C>T | CA1102440453 | KCTD7 | c.314+169C>T (n.314+169C>T) c.292+169C>T c.144+4405C>T (n.144+4405C>T) c.139+4405C>T c.118+4405C>T c.184+169C>T | gnomAD v3 gnomAD v4 |
7 | g.66633614A= | CA1714174622 | KCTD7 | c.314+170A= (n.314+170A=) c.292+170A= c.144+4406A= (n.144+4406A=) c.139+4406A= c.118+4406A= c.184+170A= | |
7 | g.66633614A>G | CA1102440457 | KCTD7 | c.314+170A>G (n.314+170A>G) c.292+170A>G c.144+4406A>G (n.144+4406A>G) c.139+4406A>G c.118+4406A>G c.184+170A>G | dbSNP gnomAD v3 gnomAD v4 |
7 | g.66633614A>T | CA1102440458 | KCTD7 | c.314+170A>T (n.314+170A>T) c.292+170A>T c.144+4406A>T (n.144+4406A>T) c.139+4406A>T c.118+4406A>T c.184+170A>T | gnomAD v3 gnomAD v4 |
7 | g.66633614_66633615insTTTT | CA575145174 | KCTD7 | c.314+170_314+171insTTTT (n.314+170_314+171insTTTT) c.292+170_292+171insTTTT c.144+4406_144+4407insTTTT (n.144+4406_144+4407insTTTT) c.139+4406_139+4407insTTTT c.118+4406_118+4407insTTTT c.184+170_184+171insTTTT | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.66633615A= | CA1714174623 | KCTD7 | c.314+171A= (n.314+171A=) c.292+171A= c.144+4407A= (n.144+4407A=) c.139+4407A= c.118+4407A= c.184+171A= | |
7 | g.66633615A>C | CA2599162330 | KCTD7 | c.314+171A>C (n.314+171A>C) c.292+171A>C c.144+4407A>C (n.144+4407A>C) c.139+4407A>C c.118+4407A>C c.184+171A>C | dbSNP gnomAD v3 gnomAD v4 |
7 | g.66633615A>G | CA160219766 | KCTD7 | c.314+171A>G (n.314+171A>G) c.292+171A>G c.144+4407A>G (n.144+4407A>G) c.139+4407A>G c.118+4407A>G c.184+171A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.66633615A>T | CA1102440481 | KCTD7 | c.314+171A>T (n.314+171A>T) c.292+171A>T c.144+4407A>T (n.144+4407A>T) c.139+4407A>T c.118+4407A>T c.184+171A>T | gnomAD v3 gnomAD v4 |
7 | g.66633615_66633616insTTTTT | CA1102440491 | KCTD7 | c.314+171_314+172insTTTTT (n.314+171_314+172insTTTTT) c.292+171_292+172insTTTTT c.144+4407_144+4408insTTTTT (n.144+4407_144+4408insTTTTT) c.139+4407_139+4408insTTTTT c.118+4407_118+4408insTTTTT c.184+171_184+172insTTTTT | gnomAD v3 gnomAD v4 |
7 | g.66633616A= | CA1714174624 | KCTD7 | c.314+172A= (n.314+172A=) c.292+172A= c.144+4408A= (n.144+4408A=) c.139+4408A= c.118+4408A= c.184+172A= | |
7 | g.66633616A>G | CA841293026 | KCTD7 | c.314+172A>G (n.314+172A>G) c.292+172A>G c.144+4408A>G (n.144+4408A>G) c.139+4408A>G c.118+4408A>G c.184+172A>G | dbSNP |
7 | g.66633617G>A | CA1102440494 | KCTD7 | c.314+173G>A (n.314+173G>A) c.292+173G>A c.144+4409G>A (n.144+4409G>A) c.139+4409G>A c.118+4409G>A c.184+173G>A | gnomAD v3 gnomAD v4 |
7 | g.66633617G>T | CA1102440513 | KCTD7 | c.314+173G>T (n.314+173G>T) c.292+173G>T c.144+4409G>T (n.144+4409G>T) c.139+4409G>T c.118+4409G>T c.184+173G>T | gnomAD v3 gnomAD v4 |
7 | g.66633617_66633618insTTTTATT | CA1102440520 | KCTD7 | c.314+173_314+174insTTTTATT (n.314+173_314+174insTTTTATT) c.292+173_292+174insTTTTATT c.144+4409_144+4410insTTTTATT (n.144+4409_144+4410insTTTTATT) c.139+4409_139+4410insTTTTATT c.118+4409_118+4410insTTTTATT c.184+173_184+174insTTTTATT | gnomAD v3 gnomAD v4 |
7 | g.66633617_66633618insTTTTTTT | CA1102440521 | KCTD7 | c.314+173_314+174insTTTTTTT (n.314+173_314+174insTTTTTTT) c.292+173_292+174insTTTTTTT c.144+4409_144+4410insTTTTTTT (n.144+4409_144+4410insTTTTTTT) c.139+4409_139+4410insTTTTTTT c.118+4409_118+4410insTTTTTTT c.184+173_184+174insTTTTTTT | gnomAD v3 gnomAD v4 |
7 | g.66633618G>A | CA160219767 | KCTD7 | c.314+174G>A (n.314+174G>A) c.292+174G>A c.144+4410G>A (n.144+4410G>A) c.139+4410G>A c.118+4410G>A c.184+174G>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.66633618G= | CA1714174625 | KCTD7 | c.314+174G= (n.314+174G=) c.292+174G= c.144+4410G= (n.144+4410G=) c.139+4410G= c.118+4410G= c.184+174G= | |
7 | g.66633618_66633619insTTTTTTTT | CA1102440523 | KCTD7 | c.314+174_314+175insTTTTTTTT (n.314+174_314+175insTTTTTTTT) c.292+174_292+175insTTTTTTTT c.144+4410_144+4411insTTTTTTTT (n.144+4410_144+4411insTTTTTTTT) c.139+4410_139+4411insTTTTTTTT c.118+4410_118+4411insTTTTTTTT c.184+174_184+175insTTTTTTTT | |
7 | g.66633618_66633619insTTTTTTTTTTTTTT | CA2776256345 | KCTD7 | c.314+174_314+175insTTTTTTTTTTTTTT (n.314+174_314+175insTTTTTTTTTTTTTT) c.292+174_292+175insTTTTTTTTTTTTTT c.144+4410_144+4411insTTTTTTTTTTTTTT (n.144+4410_144+4411insTTTTTTTTTTTTTT) c.139+4410_139+4411insTTTTTTTTTTTTTT c.118+4410_118+4411insTTTTTTTTTTTTTT c.184+174_184+175insTTTTTTTTTTTTTT | |
7 | g.66633619A>G | CA1102440525 | KCTD7 | c.314+175A>G (n.314+175A>G) c.292+175A>G c.144+4411A>G (n.144+4411A>G) c.139+4411A>G c.118+4411A>G c.184+175A>G | gnomAD v3 gnomAD v4 |
7 | g.66633619A>T | CA1102440522 | KCTD7 | c.314+175A>T (n.314+175A>T) c.292+175A>T c.144+4411A>T (n.144+4411A>T) c.139+4411A>T c.118+4411A>T c.184+175A>T | gnomAD v3 gnomAD v4 |
7 | g.66633620G>A | CA1102440528 | KCTD7 | c.314+176G>A (n.314+176G>A) c.292+176G>A c.144+4412G>A (n.144+4412G>A) c.139+4412G>A c.118+4412G>A c.184+176G>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.66633620G= | CA1714174626 | KCTD7 | c.314+176G= (n.314+176G=) c.292+176G= c.144+4412G= (n.144+4412G=) c.139+4412G= c.118+4412G= c.184+176G= | |
7 | g.66633620G>T | CA2776256347 | KCTD7 | c.314+176G>T (n.314+176G>T) c.292+176G>T c.144+4412G>T (n.144+4412G>T) c.139+4412G>T c.118+4412G>T c.184+176G>T | |
7 | g.66633621A= | CA1714174627 | KCTD7 | c.314+177A= (n.314+177A=) c.292+177A= c.144+4413A= (n.144+4413A=) c.139+4413A= c.118+4413A= c.184+177A= | |
7 | g.66633621A>G | CA160219768 | KCTD7 | c.314+177A>G (n.314+177A>G) c.292+177A>G c.144+4413A>G (n.144+4413A>G) c.139+4413A>G c.118+4413A>G c.184+177A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.66633621A>T | CA1102440532 | KCTD7 | c.314+177A>T (n.314+177A>T) c.292+177A>T c.144+4413A>T (n.144+4413A>T) c.139+4413A>T c.118+4413A>T c.184+177A>T | gnomAD v3 gnomAD v4 |
7 | g.66633621_66633622insTTTTTATTTTT | CA1102440536 | KCTD7 | c.314+177_314+178insTTTTTATTTTT (n.314+177_314+178insTTTTTATTTTT) c.292+177_292+178insTTTTTATTTTT c.144+4413_144+4414insTTTTTATTTTT (n.144+4413_144+4414insTTTTTATTTTT) c.139+4413_139+4414insTTTTTATTTTT c.118+4413_118+4414insTTTTTATTTTT c.184+177_184+178insTTTTTATTTTT | gnomAD v3 gnomAD v4 |
7 | g.66633622C>A | CA1102440539 | KCTD7 | c.314+178C>A (n.314+178C>A) c.292+178C>A c.144+4414C>A (n.144+4414C>A) c.139+4414C>A c.118+4414C>A c.184+178C>A | gnomAD v3 gnomAD v4 |
7 | g.66633622C>T | CA1102440542 | KCTD7 | c.314+178C>T (n.314+178C>T) c.292+178C>T c.144+4414C>T (n.144+4414C>T) c.139+4414C>T c.118+4414C>T c.184+178C>T | gnomAD v3 gnomAD v4 |
7 | g.66633622_66633626delinsCAAAG | CA1714174628 | KCTD7 | c.314+178_314+182delinsCAAAG (n.314+178_314+182delinsCAAAG) c.292+178_292+182delinsCAAAG c.144+4414_144+4418delinsCAAAG (n.144+4414_144+4418delinsCAAAG) c.139+4414_139+4418delinsCAAAG c.118+4414_118+4418delinsCAAAG c.184+178_184+182delinsCAAAG | |
7 | g.66633622_66633623insTTTTTATGTTTT | CA1102440551 | KCTD7 | c.314+178_314+179insTTTTTATGTTTT (n.314+178_314+179insTTTTTATGTTTT) c.292+178_292+179insTTTTTATGTTTT c.144+4414_144+4415insTTTTTATGTTTT (n.144+4414_144+4415insTTTTTATGTTTT) c.139+4414_139+4415insTTTTTATGTTTT c.118+4414_118+4415insTTTTTATGTTTT c.184+178_184+179insTTTTTATGTTTT | gnomAD v3 gnomAD v4 |
7 | g.66633622_66633623insTTTTTTTGTTTT | CA1102440559 | KCTD7 | c.314+178_314+179insTTTTTTTGTTTT (n.314+178_314+179insTTTTTTTGTTTT) c.292+178_292+179insTTTTTTTGTTTT c.144+4414_144+4415insTTTTTTTGTTTT (n.144+4414_144+4415insTTTTTTTGTTTT) c.139+4414_139+4415insTTTTTTTGTTTT c.118+4414_118+4415insTTTTTTTGTTTT c.184+178_184+179insTTTTTTTGTTTT | gnomAD v3 gnomAD v4 |
7 | g.66633623A>T | CA1102440564 | KCTD7 | c.314+179A>T (n.314+179A>T) c.292+179A>T c.144+4415A>T (n.144+4415A>T) c.139+4415A>T c.118+4415A>T c.184+179A>T | gnomAD v3 gnomAD v4 |
7 | g.66633624_66633627del | CA160219769 | KCTD7 | c.314+180_314+183del (n.314+180_314+183del) c.292+180_292+183del c.144+4416_144+4419del (n.144+4416_144+4419del) c.139+4416_139+4419del c.118+4416_118+4419del c.184+180_184+183del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.66633623_66633624insTTCTTTTTTGTTT | CA1102440580 | KCTD7 | c.314+179_314+180insTTCTTTTTTGTTT (n.314+179_314+180insTTCTTTTTTGTTT) c.292+179_292+180insTTCTTTTTTGTTT c.144+4415_144+4416insTTCTTTTTTGTTT (n.144+4415_144+4416insTTCTTTTTTGTTT) c.139+4415_139+4416insTTCTTTTTTGTTT c.118+4415_118+4416insTTCTTTTTTGTTT c.184+179_184+180insTTCTTTTTTGTTT | |
7 | g.66633623_66633624insTTTTTTTGTTTTT | CA1102440578 | KCTD7 | c.314+179_314+180insTTTTTTTGTTTTT (n.314+179_314+180insTTTTTTTGTTTTT) c.292+179_292+180insTTTTTTTGTTTTT c.144+4415_144+4416insTTTTTTTGTTTTT (n.144+4415_144+4416insTTTTTTTGTTTTT) c.139+4415_139+4416insTTTTTTTGTTTTT c.118+4415_118+4416insTTTTTTTGTTTTT c.184+179_184+180insTTTTTTTGTTTTT | gnomAD v3 gnomAD v4 |
7 | g.66633624A>T | CA1102440570 | KCTD7 | c.314+180A>T (n.314+180A>T) c.292+180A>T c.144+4416A>T (n.144+4416A>T) c.139+4416A>T c.118+4416A>T c.184+180A>T | gnomAD v3 gnomAD v4 |
7 | g.66633624_66633628delinsAAGAC | CA1714174629 | KCTD7 | c.314+180_314+184delinsAAGAC (n.314+180_314+184delinsAAGAC) c.292+180_292+184delinsAAGAC c.144+4416_144+4420delinsAAGAC (n.144+4416_144+4420delinsAAGAC) c.139+4416_139+4420delinsAAGAC c.118+4416_118+4420delinsAAGAC c.184+180_184+184delinsAAGAC | |
7 | g.66633627_66633630del | CA160219770 | KCTD7 | c.314+183_314+186del (n.314+183_314+186del) c.292+183_292+186del c.144+4419_144+4422del (n.144+4419_144+4422del) c.139+4419_139+4422del c.118+4419_118+4422del c.184+183_184+186del | dbSNP gnomAD v3 gnomAD v4 |
7 | g.66633626G>T | CA1102440587 | KCTD7 | c.314+182G>T (n.314+182G>T) c.292+182G>T c.144+4418G>T (n.144+4418G>T) c.139+4418G>T c.118+4418G>T c.184+182G>T | gnomAD v3 gnomAD v4 |
7 | g.66633627A>T | CA1102440595 | KCTD7 | c.314+183A>T (n.314+183A>T) c.292+183A>T c.144+4419A>T (n.144+4419A>T) c.139+4419A>T c.118+4419A>T c.184+183A>T | gnomAD v3 gnomAD v4 |
7 | g.66633628C>A | CA2524497584 | KCTD7 | c.314+184C>A (n.314+184C>A) c.292+184C>A c.144+4420C>A (n.144+4420C>A) c.139+4420C>A c.118+4420C>A c.184+184C>A | |
7 | g.66633628C>T | CA1102440614 | KCTD7 | c.314+184C>T (n.314+184C>T) c.292+184C>T c.144+4420C>T (n.144+4420C>T) c.139+4420C>T c.118+4420C>T c.184+184C>T | |
7 | g.66633630G>C | CA1714174631 | KCTD7 | c.314+186G>C (n.314+186G>C) c.292+186G>C c.144+4422G>C (n.144+4422G>C) c.139+4422G>C c.118+4422G>C c.184+186G>C | dbSNP |
7 | g.66633630G= | CA1714174630 | KCTD7 | c.314+186G= (n.314+186G=) c.292+186G= c.144+4422G= (n.144+4422G=) c.139+4422G= c.118+4422G= c.184+186G= | |
7 | g.66633630G>T | CA1102440617 | KCTD7 | c.314+186G>T (n.314+186G>T) c.292+186G>T c.144+4422G>T (n.144+4422G>T) c.139+4422G>T c.118+4422G>T c.184+186G>T | gnomAD v3 gnomAD v4 |
7 | g.66633631_66633632del | CA2776256349 | KCTD7 | c.314+187_314+188del (n.314+187_314+188del) c.292+187_292+188del c.144+4423_144+4424del (n.144+4423_144+4424del) c.139+4423_139+4424del c.118+4423_118+4424del c.184+187_184+188del | |
7 | g.66633633A>T | CA1102440626 | KCTD7 | c.314+189A>T (n.314+189A>T) c.292+189A>T c.144+4425A>T (n.144+4425A>T) c.139+4425A>T c.118+4425A>T c.184+189A>T | |
7 | g.66633634G>C | CA160219771 | KCTD7 | c.314+190G>C (n.314+190G>C) c.292+190G>C c.144+4426G>C (n.144+4426G>C) c.139+4426G>C c.118+4426G>C c.184+190G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.66633634G= | CA1714174632 | KCTD7 | c.314+190G= (n.314+190G=) c.292+190G= c.144+4426G= (n.144+4426G=) c.139+4426G= c.118+4426G= c.184+190G= | |
7 | g.66633634G>T | CA1102440632 | KCTD7 | c.314+190G>T (n.314+190G>T) c.292+190G>T c.144+4426G>T (n.144+4426G>T) c.139+4426G>T c.118+4426G>T c.184+190G>T | gnomAD v3 gnomAD v4 |
7 | g.66633636G>T | CA1102440636 | KCTD7 | c.314+192G>T (n.314+192G>T) c.292+192G>T c.144+4428G>T (n.144+4428G>T) c.139+4428G>T c.118+4428G>T c.184+192G>T | gnomAD v3 gnomAD v4 |
7 | g.66633640T>C | CA1714174634 | KCTD7 | c.314+196T>C (n.314+196T>C) c.292+196T>C c.144+4432T>C (n.144+4432T>C) c.139+4432T>C c.118+4432T>C c.184+196T>C | dbSNP |
7 | g.66633640T= | CA1714174633 | KCTD7 | c.314+196T= (n.314+196T=) c.292+196T= c.144+4432T= (n.144+4432T=) c.139+4432T= c.118+4432T= c.184+196T= | |
7 | g.66633641T>C | CA1102440657 | KCTD7 | c.314+197T>C (n.314+197T>C) c.292+197T>C c.144+4433T>C (n.144+4433T>C) c.139+4433T>C c.118+4433T>C c.184+197T>C | dbSNP gnomAD v3 gnomAD v4 |
7 | g.66633641T= | CA1714174635 | KCTD7 | c.314+197T= (n.314+197T=) c.292+197T= c.144+4433T= (n.144+4433T=) c.139+4433T= c.118+4433T= c.184+197T= | |
7 | g.66633642C>A | CA160219772 | KCTD7 | c.314+198C>A (n.314+198C>A) c.292+198C>A c.144+4434C>A (n.144+4434C>A) c.139+4434C>A c.118+4434C>A c.184+198C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.66633642C= | CA1714174636 | KCTD7 | c.314+198C= (n.314+198C=) c.292+198C= c.144+4434C= (n.144+4434C=) c.139+4434C= c.118+4434C= c.184+198C= | |
7 | g.66633642C>T | CA841293034 | KCTD7 | c.314+198C>T (n.314+198C>T) c.292+198C>T c.144+4434C>T (n.144+4434C>T) c.139+4434C>T c.118+4434C>T c.184+198C>T | dbSNP gnomAD v3 gnomAD v4 |
7 | g.66633643G>A | CA575145182 | KCTD7 | c.314+199G>A (n.314+199G>A) c.292+199G>A c.144+4435G>A (n.144+4435G>A) c.139+4435G>A c.118+4435G>A c.184+199G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.66633643G= | CA1714174637 | KCTD7 | c.314+199G= (n.314+199G=) c.292+199G= c.144+4435G= (n.144+4435G=) c.139+4435G= c.118+4435G= c.184+199G= | |
7 | g.66633643G>T | CA1102440662 | KCTD7 | c.314+199G>T (n.314+199G>T) c.292+199G>T c.144+4435G>T (n.144+4435G>T) c.139+4435G>T c.118+4435G>T c.184+199G>T | gnomAD v3 gnomAD v4 |
7 | g.66633644A= | CA1714174638 | KCTD7 | c.314+200A= (n.314+200A=) c.292+200A= c.144+4436A= (n.144+4436A=) c.139+4436A= c.118+4436A= c.184+200A= | |
7 | g.66633644A>G | CA841293038 | KCTD7 | c.314+200A>G (n.314+200A>G) c.292+200A>G c.144+4436A>G (n.144+4436A>G) c.139+4436A>G c.118+4436A>G c.184+200A>G | dbSNP |
7 | g.66633646A>G | CA2776256353 | KCTD7 | c.314+202A>G (n.314+202A>G) c.292+202A>G c.144+4438A>G (n.144+4438A>G) c.139+4438A>G c.118+4438A>G c.184+202A>G | |
7 | g.66633650C>A | CA160219773 | KCTD7 | c.314+206C>A (n.314+206C>A) c.292+206C>A c.144+4442C>A (n.144+4442C>A) c.139+4442C>A c.118+4442C>A c.184+206C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.66633650C= | CA1714174639 | KCTD7 | c.314+206C= (n.314+206C=) c.292+206C= c.144+4442C= (n.144+4442C=) c.139+4442C= c.118+4442C= c.184+206C= | |
7 | g.66633651A= | CA1714174641 | KCTD7 | c.314+207A= (n.314+207A=) c.292+207A= c.144+4443A= (n.144+4443A=) c.139+4443A= c.118+4443A= c.184+207A= | |
7 | g.66633651A>C | CA2776256355 | KCTD7 | c.314+207A>C (n.314+207A>C) c.292+207A>C c.144+4443A>C (n.144+4443A>C) c.139+4443A>C c.118+4443A>C c.184+207A>C | |
7 | g.66633651A>G | CA1714174640 | KCTD7 | c.314+207A>G (n.314+207A>G) c.292+207A>G c.144+4443A>G (n.144+4443A>G) c.139+4443A>G c.118+4443A>G c.184+207A>G | dbSNP |
7 | g.66633657G>A | CA2529415607 | KCTD7 | c.314+213G>A (n.314+213G>A) c.292+213G>A c.144+4449G>A (n.144+4449G>A) c.139+4449G>A c.118+4449G>A c.184+213G>A | |
7 | g.66633659T>C | CA160219774 | KCTD7 | c.314+215T>C (n.314+215T>C) c.292+215T>C c.144+4451T>C (n.144+4451T>C) c.139+4451T>C c.118+4451T>C c.184+215T>C | dbSNP gnomAD v3 gnomAD v4 |
7 | g.66633659T= | CA1714174642 | KCTD7 | c.314+215T= (n.314+215T=) c.292+215T= c.144+4451T= (n.144+4451T=) c.139+4451T= c.118+4451T= c.184+215T= | |
7 | g.66633665A= | CA1714174643 | KCTD7 | c.314+221A= (n.314+221A=) c.292+221A= c.144+4457A= (n.144+4457A=) c.139+4457A= c.118+4457A= c.184+221A= | |
7 | g.66633665A>C | CA841293043 | KCTD7 | c.314+221A>C (n.314+221A>C) c.292+221A>C c.144+4457A>C (n.144+4457A>C) c.139+4457A>C c.118+4457A>C c.184+221A>C | dbSNP gnomAD v3 gnomAD v4 |
7 | g.66633669T>G | CA1714174645 | KCTD7 | c.314+225T>G (n.314+225T>G) c.292+225T>G c.144+4461T>G (n.144+4461T>G) c.139+4461T>G c.118+4461T>G c.184+225T>G | dbSNP |
7 | g.66633669T= | CA1714174644 | KCTD7 | c.314+225T= (n.314+225T=) c.292+225T= c.144+4461T= (n.144+4461T=) c.139+4461T= c.118+4461T= c.184+225T= | |
7 | g.66633673_66633674delinsTC | CA1714174646 | KCTD7 | c.314+229_314+230delinsTC (n.314+229_314+230delinsTC) c.292+229_292+230delinsTC c.144+4465_144+4466delinsTC (n.144+4465_144+4466delinsTC) c.139+4465_139+4466delinsTC c.118+4465_118+4466delinsTC c.184+229_184+230delinsTC | |
7 | g.66633674del | CA841293045 | KCTD7 | c.314+230del (n.314+230del) c.292+230del c.144+4466del (n.144+4466del) c.139+4466del c.118+4466del c.184+230del | dbSNP |
7 | g.66633674C>A | CA1714174648 | KCTD7 | c.314+230C>A (n.314+230C>A) c.292+230C>A c.144+4466C>A (n.144+4466C>A) c.139+4466C>A c.118+4466C>A c.184+230C>A | dbSNP |
7 | g.66633674C= | CA1714174647 | KCTD7 | c.314+230C= (n.314+230C=) c.292+230C= c.144+4466C= (n.144+4466C=) c.139+4466C= c.118+4466C= c.184+230C= | |
7 | g.66633675A= | CA1714174649 | KCTD7 | c.314+231A= (n.314+231A=) c.292+231A= c.144+4467A= (n.144+4467A=) c.139+4467A= c.118+4467A= c.184+231A= | |
7 | g.66633675A>C | CA841293053 | KCTD7 | c.314+231A>C (n.314+231A>C) c.292+231A>C c.144+4467A>C (n.144+4467A>C) c.139+4467A>C c.118+4467A>C c.184+231A>C | dbSNP |
7 | g.66633676A= | CA1714174650 | KCTD7 | c.314+232A= (n.314+232A=) c.292+232A= c.144+4468A= (n.144+4468A=) c.139+4468A= c.118+4468A= c.184+232A= | |
7 | g.66633676A>G | CA160219775 | KCTD7 | c.314+232A>G (n.314+232A>G) c.292+232A>G c.144+4468A>G (n.144+4468A>G) c.139+4468A>G c.118+4468A>G c.184+232A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.66633679A= | CA1714174651 | KCTD7 | c.314+235A= (n.314+235A=) c.292+235A= c.144+4471A= (n.144+4471A=) c.139+4471A= c.118+4471A= c.184+235A= | |
7 | g.66633679A>C | CA1102440668 | KCTD7 | c.314+235A>C (n.314+235A>C) c.292+235A>C c.144+4471A>C (n.144+4471A>C) c.139+4471A>C c.118+4471A>C c.184+235A>C | dbSNP gnomAD v3 gnomAD v4 |
7 | g.66633680T>C | CA841293057 | KCTD7 | c.314+236T>C (n.314+236T>C) c.292+236T>C c.144+4472T>C (n.144+4472T>C) c.139+4472T>C c.118+4472T>C c.184+236T>C | dbSNP gnomAD v3 gnomAD v4 |
7 | g.66633680T= | CA1714174652 | KCTD7 | c.314+236T= (n.314+236T=) c.292+236T= c.144+4472T= (n.144+4472T=) c.139+4472T= c.118+4472T= c.184+236T= | |
7 | g.66633683_66633684insGT | CA2776256356 | KCTD7 | c.314+239_314+240insGT (n.314+239_314+240insGT) c.292+239_292+240insGT c.144+4475_144+4476insGT (n.144+4475_144+4476insGT) c.139+4475_139+4476insGT c.118+4475_118+4476insGT c.184+239_184+240insGT | |
7 | g.66633687_66633690del | CA2714950558 | KCTD7 | c.314+243_314+246del (n.314+243_314+246del) c.292+243_292+246del c.144+4479_144+4482del (n.144+4479_144+4482del) c.139+4479_139+4482del c.118+4479_118+4482del c.184+243_184+246del | dbSNP |
7 | g.66633686A= | CA1714174653 | KCTD7 | c.314+242A= (n.314+242A=) c.292+242A= c.144+4478A= (n.144+4478A=) c.139+4478A= c.118+4478A= c.184+242A= | |
7 | g.66633686A>G | CA1714174654 | KCTD7 | c.314+242A>G (n.314+242A>G) c.292+242A>G c.144+4478A>G (n.144+4478A>G) c.139+4478A>G c.118+4478A>G c.184+242A>G | dbSNP |
7 | g.66633689A= | CA1714174655 | KCTD7 | c.314+245A= (n.314+245A=) c.292+245A= c.144+4481A= (n.144+4481A=) c.139+4481A= c.118+4481A= c.184+245A= | |
7 | g.66633689A>T | CA841293058 | KCTD7 | c.314+245A>T (n.314+245A>T) c.292+245A>T c.144+4481A>T (n.144+4481A>T) c.139+4481A>T c.118+4481A>T c.184+245A>T | dbSNP gnomAD v3 gnomAD v4 |
7 | g.66633691A= | CA1714174656 | KCTD7 | c.314+247A= (n.314+247A=) c.292+247A= c.144+4483A= (n.144+4483A=) c.139+4483A= c.118+4483A= c.184+247A= | |
7 | g.66633691A>G | CA1714174657 | KCTD7 | c.314+247A>G (n.314+247A>G) c.292+247A>G c.144+4483A>G (n.144+4483A>G) c.139+4483A>G c.118+4483A>G c.184+247A>G | dbSNP |
7 | g.66633695T>C | CA841293059 | KCTD7 | c.314+251T>C (n.314+251T>C) c.292+251T>C c.144+4487T>C (n.144+4487T>C) c.139+4487T>C c.118+4487T>C c.184+251T>C | dbSNP gnomAD v3 gnomAD v4 |
7 | g.66633695T= | CA1714174658 | KCTD7 | c.314+251T= (n.314+251T=) c.292+251T= c.144+4487T= (n.144+4487T=) c.139+4487T= c.118+4487T= c.184+251T= |