| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13830640A= | CA1528458757 | DNAH5 | n.949T= c.6018T= (p.Cys2006=) c.5973T= (p.Cys1991=) n.6225T= c.6126T= (p.Cys2042=) c.5031T= (p.Cys1677=) c.1215T= (p.Cys405=) c.768T= (p.Cys256=) c.105T= (p.Cys35=) c.4620T= (p.Cys1540=) n.6143T= | |
| 5 | g.13830640A>C | CA359202378 | DNAH5 | n.949T>G c.6018T>G (p.Cys2006Trp) c.5973T>G (p.Cys1991Trp) n.6225T>G c.6126T>G (p.Cys2042Trp) c.5031T>G (p.Cys1677Trp) c.1215T>G (p.Cys405Trp) c.768T>G (p.Cys256Trp) c.105T>G (p.Cys35Trp) c.4620T>G (p.Cys1540Trp) n.6143T>G | |
| 5 | g.13830640A>G | CA3203508 | DNAH5 | n.949T>C c.6018T>C (p.Cys2006=) c.5973T>C (p.Cys1991=) n.6225T>C c.6126T>C (p.Cys2042=) c.5031T>C (p.Cys1677=) c.1215T>C (p.Cys405=) c.768T>C (p.Cys256=) c.105T>C (p.Cys35=) c.4620T>C (p.Cys1540=) n.6143T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13830640A>T | CA359202385 | DNAH5 | n.949T>A c.6018T>A (p.Cys2006Ter) c.5973T>A (p.Cys1991Ter) n.6225T>A c.6126T>A (p.Cys2042Ter) c.5031T>A (p.Cys1677Ter) c.1215T>A (p.Cys405Ter) c.768T>A (p.Cys256Ter) c.105T>A (p.Cys35Ter) c.4620T>A (p.Cys1540Ter) n.6143T>A | |
| 5 | g.13830641C>A | CA359202388 | DNAH5 | n.948G>T c.6017G>T (p.Cys2006Phe) c.5972G>T (p.Cys1991Phe) n.6224G>T c.6125G>T (p.Cys2042Phe) c.5030G>T (p.Cys1677Phe) c.1214G>T (p.Cys405Phe) c.767G>T (p.Cys256Phe) c.104G>T (p.Cys35Phe) c.4619G>T (p.Cys1540Phe) n.6142G>T | |
| 5 | g.13830641C>G | CA359202390 | DNAH5 | n.948G>C c.6017G>C (p.Cys2006Ser) c.5972G>C (p.Cys1991Ser) n.6224G>C c.6125G>C (p.Cys2042Ser) c.5030G>C (p.Cys1677Ser) c.1214G>C (p.Cys405Ser) c.767G>C (p.Cys256Ser) c.104G>C (p.Cys35Ser) c.4619G>C (p.Cys1540Ser) n.6142G>C | |
| 5 | g.13830641C>T | CA359202393 | DNAH5 | n.948G>A c.6017G>A (p.Cys2006Tyr) c.5972G>A (p.Cys1991Tyr) n.6224G>A c.6125G>A (p.Cys2042Tyr) c.5030G>A (p.Cys1677Tyr) c.1214G>A (p.Cys405Tyr) c.767G>A (p.Cys256Tyr) c.104G>A (p.Cys35Tyr) c.4619G>A (p.Cys1540Tyr) n.6142G>A | |
| 5 | g.13830642A= | CA1528458758 | DNAH5 | n.947T= c.6016T= (p.Cys2006=) c.5971T= (p.Cys1991=) n.6223T= c.6124T= (p.Cys2042=) c.5029T= (p.Cys1677=) c.1213T= (p.Cys405=) c.766T= (p.Cys256=) c.103T= (p.Cys35=) c.4618T= (p.Cys1540=) n.6141T= | |
| 5 | g.13830642A>C | CA359202414 | DNAH5 | n.947T>G c.6016T>G (p.Cys2006Gly) c.5971T>G (p.Cys1991Gly) n.6223T>G c.6124T>G (p.Cys2042Gly) c.5029T>G (p.Cys1677Gly) c.1213T>G (p.Cys405Gly) c.766T>G (p.Cys256Gly) c.103T>G (p.Cys35Gly) c.4618T>G (p.Cys1540Gly) n.6141T>G | |
| 5 | g.13830642A>G | CA359202417 | DNAH5 | n.947T>C c.6016T>C (p.Cys2006Arg) c.5971T>C (p.Cys1991Arg) n.6223T>C c.6124T>C (p.Cys2042Arg) c.5029T>C (p.Cys1677Arg) c.1213T>C (p.Cys405Arg) c.766T>C (p.Cys256Arg) c.103T>C (p.Cys35Arg) c.4618T>C (p.Cys1540Arg) n.6141T>C | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13830642A>T | CA359202409 | DNAH5 | n.947T>A c.6016T>A (p.Cys2006Ser) c.5971T>A (p.Cys1991Ser) n.6223T>A c.6124T>A (p.Cys2042Ser) c.5029T>A (p.Cys1677Ser) c.1213T>A (p.Cys405Ser) c.766T>A (p.Cys256Ser) c.103T>A (p.Cys35Ser) c.4618T>A (p.Cys1540Ser) n.6141T>A | |
| 5 | g.13830643A= | CA1528458759 | DNAH5 | n.946T= c.6015T= (p.Asn2005=) c.5970T= (p.Asn1990=) n.6222T= c.6123T= (p.Asn2041=) c.5028T= (p.Asn1676=) c.1212T= (p.Asn404=) c.765T= (p.Asn255=) c.102T= (p.Asn34=) c.4617T= (p.Asn1539=) n.6140T= | |
| 5 | g.13830643A>C | CA359202421 | DNAH5 | n.946T>G c.6015T>G (p.Asn2005Lys) c.5970T>G (p.Asn1990Lys) n.6222T>G c.6123T>G (p.Asn2041Lys) c.5028T>G (p.Asn1676Lys) c.1212T>G (p.Asn404Lys) c.765T>G (p.Asn255Lys) c.102T>G (p.Asn34Lys) c.4617T>G (p.Asn1539Lys) n.6140T>G | |
| 5 | g.13830643A>G | CA443252864 | DNAH5 | n.946T>C c.6015T>C (p.Asn2005=) c.5970T>C (p.Asn1990=) n.6222T>C c.6123T>C (p.Asn2041=) c.5028T>C (p.Asn1676=) c.1212T>C (p.Asn404=) c.765T>C (p.Asn255=) c.102T>C (p.Asn34=) c.4617T>C (p.Asn1539=) n.6140T>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13830643A>T | CA359202425 | DNAH5 | n.946T>A c.6015T>A (p.Asn2005Lys) c.5970T>A (p.Asn1990Lys) n.6222T>A c.6123T>A (p.Asn2041Lys) c.5028T>A (p.Asn1676Lys) c.1212T>A (p.Asn404Lys) c.765T>A (p.Asn255Lys) c.102T>A (p.Asn34Lys) c.4617T>A (p.Asn1539Lys) n.6140T>A | |
| 5 | g.13830644T>A | CA359202432 | DNAH5 | n.945A>T c.6014A>T (p.Asn2005Ile) c.5969A>T (p.Asn1990Ile) n.6221A>T c.6122A>T (p.Asn2041Ile) c.5027A>T (p.Asn1676Ile) c.1211A>T (p.Asn404Ile) c.764A>T (p.Asn255Ile) c.101A>T (p.Asn34Ile) c.4616A>T (p.Asn1539Ile) n.6139A>T | |
| 5 | g.13830644T>C | CA359202435 | DNAH5 | n.945A>G c.6014A>G (p.Asn2005Ser) c.5969A>G (p.Asn1990Ser) n.6221A>G c.6122A>G (p.Asn2041Ser) c.5027A>G (p.Asn1676Ser) c.1211A>G (p.Asn404Ser) c.764A>G (p.Asn255Ser) c.101A>G (p.Asn34Ser) c.4616A>G (p.Asn1539Ser) n.6139A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13830644T>G | CA359202436 | DNAH5 | n.945A>C c.6014A>C (p.Asn2005Thr) c.5969A>C (p.Asn1990Thr) n.6221A>C c.6122A>C (p.Asn2041Thr) c.5027A>C (p.Asn1676Thr) c.1211A>C (p.Asn404Thr) c.764A>C (p.Asn255Thr) c.101A>C (p.Asn34Thr) c.4616A>C (p.Asn1539Thr) n.6139A>C | |
| 5 | g.13830644T= | CA1528458760 | DNAH5 | n.945A= c.6014A= (p.Asn2005=) c.5969A= (p.Asn1990=) n.6221A= c.6122A= (p.Asn2041=) c.5027A= (p.Asn1676=) c.1211A= (p.Asn404=) c.764A= (p.Asn255=) c.101A= (p.Asn34=) c.4616A= (p.Asn1539=) n.6139A= | |
| 5 | g.13830645T>A | CA359202437 | DNAH5 | n.944A>T c.6013A>T (p.Asn2005Tyr) c.5968A>T (p.Asn1990Tyr) n.6220A>T c.6121A>T (p.Asn2041Tyr) c.5026A>T (p.Asn1676Tyr) c.1210A>T (p.Asn404Tyr) c.763A>T (p.Asn255Tyr) c.100A>T (p.Asn34Tyr) c.4615A>T (p.Asn1539Tyr) n.6138A>T | |
| 5 | g.13830645T>C | CA359202438 | DNAH5 | n.944A>G c.6013A>G (p.Asn2005Asp) c.5968A>G (p.Asn1990Asp) n.6220A>G c.6121A>G (p.Asn2041Asp) c.5026A>G (p.Asn1676Asp) c.1210A>G (p.Asn404Asp) c.763A>G (p.Asn255Asp) c.100A>G (p.Asn34Asp) c.4615A>G (p.Asn1539Asp) n.6138A>G | |
| 5 | g.13830645T>G | CA359202440 | DNAH5 | n.944A>C c.6013A>C (p.Asn2005His) c.5968A>C (p.Asn1990His) n.6220A>C c.6121A>C (p.Asn2041His) c.5026A>C (p.Asn1676His) c.1210A>C (p.Asn404His) c.763A>C (p.Asn255His) c.100A>C (p.Asn34His) c.4615A>C (p.Asn1539His) n.6138A>C | gnomAD v4 |
| 5 | g.13830646G>A | CA443252877 | DNAH5 | n.943C>T c.6012C>T (p.Phe2004=) c.5967C>T (p.Phe1989=) n.6219C>T c.6120C>T (p.Phe2040=) c.5025C>T (p.Phe1675=) c.1209C>T (p.Phe403=) c.762C>T (p.Phe254=) c.99C>T (p.Phe33=) c.4614C>T (p.Phe1538=) n.6137C>T | dbSNP |
| 5 | g.13830646G>C | CA359202441 | DNAH5 | n.943C>G c.6012C>G (p.Phe2004Leu) c.5967C>G (p.Phe1989Leu) n.6219C>G c.6120C>G (p.Phe2040Leu) c.5025C>G (p.Phe1675Leu) c.1209C>G (p.Phe403Leu) c.762C>G (p.Phe254Leu) c.99C>G (p.Phe33Leu) c.4614C>G (p.Phe1538Leu) n.6137C>G | |
| 5 | g.13830646G= | CA1528458761 | DNAH5 | n.943C= c.6012C= (p.Phe2004=) c.5967C= (p.Phe1989=) n.6219C= c.6120C= (p.Phe2040=) c.5025C= (p.Phe1675=) c.1209C= (p.Phe403=) c.762C= (p.Phe254=) c.99C= (p.Phe33=) c.4614C= (p.Phe1538=) n.6137C= | |
| 5 | g.13830646G>T | CA359202444 | DNAH5 | n.943C>A c.6012C>A (p.Phe2004Leu) c.5967C>A (p.Phe1989Leu) n.6219C>A c.6120C>A (p.Phe2040Leu) c.5025C>A (p.Phe1675Leu) c.1209C>A (p.Phe403Leu) c.762C>A (p.Phe254Leu) c.99C>A (p.Phe33Leu) c.4614C>A (p.Phe1538Leu) n.6137C>A | |
| 5 | g.13830647A>C | CA359202445 | DNAH5 | n.942T>G c.6011T>G (p.Phe2004Cys) c.5966T>G (p.Phe1989Cys) n.6218T>G c.6119T>G (p.Phe2040Cys) c.5024T>G (p.Phe1675Cys) c.1208T>G (p.Phe403Cys) c.761T>G (p.Phe254Cys) c.98T>G (p.Phe33Cys) c.4613T>G (p.Phe1538Cys) n.6136T>G | |
| 5 | g.13830647A>G | CA359202449 | DNAH5 | n.942T>C c.6011T>C (p.Phe2004Ser) c.5966T>C (p.Phe1989Ser) n.6218T>C c.6119T>C (p.Phe2040Ser) c.5024T>C (p.Phe1675Ser) c.1208T>C (p.Phe403Ser) c.761T>C (p.Phe254Ser) c.98T>C (p.Phe33Ser) c.4613T>C (p.Phe1538Ser) n.6136T>C | |
| 5 | g.13830647A>T | CA359202452 | DNAH5 | n.942T>A c.6011T>A (p.Phe2004Tyr) c.5966T>A (p.Phe1989Tyr) n.6218T>A c.6119T>A (p.Phe2040Tyr) c.5024T>A (p.Phe1675Tyr) c.1208T>A (p.Phe403Tyr) c.761T>A (p.Phe254Tyr) c.98T>A (p.Phe33Tyr) c.4613T>A (p.Phe1538Tyr) n.6136T>A | |
| 5 | g.13830648A>C | CA359202460 | DNAH5 | n.941T>G c.6010T>G (p.Phe2004Val) c.5965T>G (p.Phe1989Val) n.6217T>G c.6118T>G (p.Phe2040Val) c.5023T>G (p.Phe1675Val) c.1207T>G (p.Phe403Val) c.760T>G (p.Phe254Val) c.97T>G (p.Phe33Val) c.4612T>G (p.Phe1538Val) n.6135T>G | |
| 5 | g.13830648A>G | CA359202456 | DNAH5 | n.941T>C c.6010T>C (p.Phe2004Leu) c.5965T>C (p.Phe1989Leu) n.6217T>C c.6118T>C (p.Phe2040Leu) c.5023T>C (p.Phe1675Leu) c.1207T>C (p.Phe403Leu) c.760T>C (p.Phe254Leu) c.97T>C (p.Phe33Leu) c.4612T>C (p.Phe1538Leu) n.6135T>C | |
| 5 | g.13830648A>T | CA359202454 | DNAH5 | n.941T>A c.6010T>A (p.Phe2004Ile) c.5965T>A (p.Phe1989Ile) n.6217T>A c.6118T>A (p.Phe2040Ile) c.5023T>A (p.Phe1675Ile) c.1207T>A (p.Phe403Ile) c.760T>A (p.Phe254Ile) c.97T>A (p.Phe33Ile) c.4612T>A (p.Phe1538Ile) n.6135T>A | |
| 5 | g.13830649A= | CA1528458762 | DNAH5 | n.940T= c.6009T= (p.Val2003=) c.5964T= (p.Val1988=) n.6216T= c.6117T= (p.Val2039=) c.5022T= (p.Val1674=) c.1206T= (p.Val402=) c.759T= (p.Val253=) c.96T= (p.Val32=) c.4611T= (p.Val1537=) n.6134T= | |
| 5 | g.13830649A>C | CA443252890 | DNAH5 | n.940T>G c.6009T>G (p.Val2003=) c.5964T>G (p.Val1988=) n.6216T>G c.6117T>G (p.Val2039=) c.5022T>G (p.Val1674=) c.1206T>G (p.Val402=) c.759T>G (p.Val253=) c.96T>G (p.Val32=) c.4611T>G (p.Val1537=) n.6134T>G | |
| 5 | g.13830649A>G | CA443252892 | DNAH5 | n.940T>C c.6009T>C (p.Val2003=) c.5964T>C (p.Val1988=) n.6216T>C c.6117T>C (p.Val2039=) c.5022T>C (p.Val1674=) c.1206T>C (p.Val402=) c.759T>C (p.Val253=) c.96T>C (p.Val32=) c.4611T>C (p.Val1537=) n.6134T>C | |
| 5 | g.13830649A>T | CA443252895 | DNAH5 | n.940T>A c.6009T>A (p.Val2003=) c.5964T>A (p.Val1988=) n.6216T>A c.6117T>A (p.Val2039=) c.5022T>A (p.Val1674=) c.1206T>A (p.Val402=) c.759T>A (p.Val253=) c.96T>A (p.Val32=) c.4611T>A (p.Val1537=) n.6134T>A | gnomAD v4 |
| 5 | g.13830650A>C | CA359202462 | DNAH5 | n.939T>G c.6008T>G (p.Val2003Gly) c.5963T>G (p.Val1988Gly) n.6215T>G c.6116T>G (p.Val2039Gly) c.5021T>G (p.Val1674Gly) c.1205T>G (p.Val402Gly) c.758T>G (p.Val253Gly) c.95T>G (p.Val32Gly) c.4610T>G (p.Val1537Gly) n.6133T>G | |
| 5 | g.13830650A>G | CA359202465 | DNAH5 | n.939T>C c.6008T>C (p.Val2003Ala) c.5963T>C (p.Val1988Ala) n.6215T>C c.6116T>C (p.Val2039Ala) c.5021T>C (p.Val1674Ala) c.1205T>C (p.Val402Ala) c.758T>C (p.Val253Ala) c.95T>C (p.Val32Ala) c.4610T>C (p.Val1537Ala) n.6133T>C | |
| 5 | g.13830650A>T | CA359202470 | DNAH5 | n.939T>A c.6008T>A (p.Val2003Asp) c.5963T>A (p.Val1988Asp) n.6215T>A c.6116T>A (p.Val2039Asp) c.5021T>A (p.Val1674Asp) c.1205T>A (p.Val402Asp) c.758T>A (p.Val253Asp) c.95T>A (p.Val32Asp) c.4610T>A (p.Val1537Asp) n.6133T>A | |
| 5 | g.13830650_13830657dup | CA557876828 | DNAH5 | n.932_939dup c.6001_6008dup (p.Phe2004SerfsTer?) c.5956_5963dup (p.Phe1989SerfsTer?) n.6208_6215dup c.6109_6116dup (p.Phe2040SerfsTer?) c.5014_5021dup (p.Phe1675SerfsTer?) c.1198_1205dup (p.Phe403SerfsTer?) c.751_758dup (p.Phe254SerfsTer?) c.88_95dup (p.Phe33SerfsTer?) c.4603_4610dup (p.Phe1538SerfsTer?) n.6126_6133dup | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13830651C>A | CA359202472 | DNAH5 | n.938G>T c.6007G>T (p.Val2003Phe) c.5962G>T (p.Val1988Phe) n.6214G>T c.6115G>T (p.Val2039Phe) c.5020G>T (p.Val1674Phe) c.1204G>T (p.Val402Phe) c.757G>T (p.Val253Phe) c.94G>T (p.Val32Phe) c.4609G>T (p.Val1537Phe) n.6132G>T | gnomAD v4 |
| 5 | g.13830651C= | CA1528458763 | DNAH5 | n.938G= c.6007G= (p.Val2003=) c.5962G= (p.Val1988=) n.6214G= c.6115G= (p.Val2039=) c.5020G= (p.Val1674=) c.1204G= (p.Val402=) c.757G= (p.Val253=) c.94G= (p.Val32=) c.4609G= (p.Val1537=) n.6132G= | |
| 5 | g.13830651C>G | CA359202476 | DNAH5 | n.938G>C c.6007G>C (p.Val2003Leu) c.5962G>C (p.Val1988Leu) n.6214G>C c.6115G>C (p.Val2039Leu) c.5020G>C (p.Val1674Leu) c.1204G>C (p.Val402Leu) c.757G>C (p.Val253Leu) c.94G>C (p.Val32Leu) c.4609G>C (p.Val1537Leu) n.6132G>C | |
| 5 | g.13830651C>T | CA3203509 | DNAH5 | n.938G>A c.6007G>A (p.Val2003Ile) c.5962G>A (p.Val1988Ile) n.6214G>A c.6115G>A (p.Val2039Ile) c.5020G>A (p.Val1674Ile) c.1204G>A (p.Val402Ile) c.757G>A (p.Val253Ile) c.94G>A (p.Val32Ile) c.4609G>A (p.Val1537Ile) n.6132G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13830652C>A | CA443252903 | DNAH5 | n.937G>T c.6006G>T (p.Val2002=) c.5961G>T (p.Val1987=) n.6213G>T c.6114G>T (p.Val2038=) c.5019G>T (p.Val1673=) c.1203G>T (p.Val401=) c.756G>T (p.Val252=) c.93G>T (p.Val31=) c.4608G>T (p.Val1536=) n.6131G>T | |
| 5 | g.13830652C= | CA1528458764 | DNAH5 | n.937G= c.6006G= (p.Val2002=) c.5961G= (p.Val1987=) n.6213G= c.6114G= (p.Val2038=) c.5019G= (p.Val1673=) c.1203G= (p.Val401=) c.756G= (p.Val252=) c.93G= (p.Val31=) c.4608G= (p.Val1536=) n.6131G= | |
| 5 | g.13830652C>G | CA443252908 | DNAH5 | n.937G>C c.6006G>C (p.Val2002=) c.5961G>C (p.Val1987=) n.6213G>C c.6114G>C (p.Val2038=) c.5019G>C (p.Val1673=) c.1203G>C (p.Val401=) c.756G>C (p.Val252=) c.93G>C (p.Val31=) c.4608G>C (p.Val1536=) n.6131G>C | |
| 5 | g.13830652C>T | CA443252906 | DNAH5 | n.937G>A c.6006G>A (p.Val2002=) c.5961G>A (p.Val1987=) n.6213G>A c.6114G>A (p.Val2038=) c.5019G>A (p.Val1673=) c.1203G>A (p.Val401=) c.756G>A (p.Val252=) c.93G>A (p.Val31=) c.4608G>A (p.Val1536=) n.6131G>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13830653A= | CA1528458765 | DNAH5 | n.936T= c.6005T= (p.Val2002=) c.5960T= (p.Val1987=) n.6212T= c.6113T= (p.Val2038=) c.5018T= (p.Val1673=) c.1202T= (p.Val401=) c.755T= (p.Val252=) c.92T= (p.Val31=) c.4607T= (p.Val1536=) n.6130T= | |
| 5 | g.13830653A>C | CA359202480 | DNAH5 | n.936T>G c.6005T>G (p.Val2002Gly) c.5960T>G (p.Val1987Gly) n.6212T>G c.6113T>G (p.Val2038Gly) c.5018T>G (p.Val1673Gly) c.1202T>G (p.Val401Gly) c.755T>G (p.Val252Gly) c.92T>G (p.Val31Gly) c.4607T>G (p.Val1536Gly) n.6130T>G |