| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13780852A>C | CA443259023 | DNAH5 | c.8928T>G (p.Val2976=) c.8883T>G (p.Val2961=) n.9028-3497T>G c.9036T>G (p.Val3012=) c.7941T>G (p.Val2647=) c.4125T>G (p.Val1375=) c.3678T>G (p.Val1226=) c.3015T>G (p.Val1005=) c.7530T>G (p.Val2510=) n.8946-3497T>G | |
| 5 | g.13780852A>G | CA443259028 | DNAH5 | c.8928T>C (p.Val2976=) c.8883T>C (p.Val2961=) n.9028-3497T>C c.9036T>C (p.Val3012=) c.7941T>C (p.Val2647=) c.4125T>C (p.Val1375=) c.3678T>C (p.Val1226=) c.3015T>C (p.Val1005=) c.7530T>C (p.Val2510=) n.8946-3497T>C | gnomAD v4 |
| 5 | g.13780852A>T | CA443259030 | DNAH5 | c.8928T>A (p.Val2976=) c.8883T>A (p.Val2961=) n.9028-3497T>A c.9036T>A (p.Val3012=) c.7941T>A (p.Val2647=) c.4125T>A (p.Val1375=) c.3678T>A (p.Val1226=) c.3015T>A (p.Val1005=) c.7530T>A (p.Val2510=) n.8946-3497T>A | |
| 5 | g.13780853A>C | CA359212654 | DNAH5 | c.8927T>G (p.Val2976Gly) c.8882T>G (p.Val2961Gly) n.9028-3498T>G c.9035T>G (p.Val3012Gly) c.7940T>G (p.Val2647Gly) c.4124T>G (p.Val1375Gly) c.3677T>G (p.Val1226Gly) c.3014T>G (p.Val1005Gly) c.7529T>G (p.Val2510Gly) n.8946-3498T>G | |
| 5 | g.13780853A>G | CA359212655 | DNAH5 | c.8927T>C (p.Val2976Ala) c.8882T>C (p.Val2961Ala) n.9028-3498T>C c.9035T>C (p.Val3012Ala) c.7940T>C (p.Val2647Ala) c.4124T>C (p.Val1375Ala) c.3677T>C (p.Val1226Ala) c.3014T>C (p.Val1005Ala) c.7529T>C (p.Val2510Ala) n.8946-3498T>C | |
| 5 | g.13780853A>T | CA359212656 | DNAH5 | c.8927T>A (p.Val2976Asp) c.8882T>A (p.Val2961Asp) n.9028-3498T>A c.9035T>A (p.Val3012Asp) c.7940T>A (p.Val2647Asp) c.4124T>A (p.Val1375Asp) c.3677T>A (p.Val1226Asp) c.3014T>A (p.Val1005Asp) c.7529T>A (p.Val2510Asp) n.8946-3498T>A | |
| 5 | g.13780854C>A | CA359212657 | DNAH5 | c.8926G>T (p.Val2976Phe) c.8881G>T (p.Val2961Phe) n.9028-3499G>T c.9034G>T (p.Val3012Phe) c.7939G>T (p.Val2647Phe) c.4123G>T (p.Val1375Phe) c.3676G>T (p.Val1226Phe) c.3013G>T (p.Val1005Phe) c.7528G>T (p.Val2510Phe) n.8946-3499G>T | COSMIC |
| 5 | g.13780854C= | CA1528435853 | DNAH5 | c.8926G= (p.Val2976=) c.8881G= (p.Val2961=) n.9028-3499G= c.9034G= (p.Val3012=) c.7939G= (p.Val2647=) c.4123G= (p.Val1375=) c.3676G= (p.Val1226=) c.3013G= (p.Val1005=) c.7528G= (p.Val2510=) n.8946-3499G= | |
| 5 | g.13780854C>G | CA359212658 | DNAH5 | c.8926G>C (p.Val2976Leu) c.8881G>C (p.Val2961Leu) n.9028-3499G>C c.9034G>C (p.Val3012Leu) c.7939G>C (p.Val2647Leu) c.4123G>C (p.Val1375Leu) c.3676G>C (p.Val1226Leu) c.3013G>C (p.Val1005Leu) c.7528G>C (p.Val2510Leu) n.8946-3499G>C | gnomAD v4 |
| 5 | g.13780854C>T | CA3202672 | DNAH5 | c.8926G>A (p.Val2976Ile) c.8881G>A (p.Val2961Ile) n.9028-3499G>A c.9034G>A (p.Val3012Ile) c.7939G>A (p.Val2647Ile) c.4123G>A (p.Val1375Ile) c.3676G>A (p.Val1226Ile) c.3013G>A (p.Val1005Ile) c.7528G>A (p.Val2510Ile) n.8946-3499G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13780855G>A | CA3202673 | DNAH5 | c.8925C>T (p.Tyr2975=) c.8880C>T (p.Tyr2960=) n.9028-3500C>T c.9033C>T (p.Tyr3011=) c.7938C>T (p.Tyr2646=) c.4122C>T (p.Tyr1374=) c.3675C>T (p.Tyr1225=) c.3012C>T (p.Tyr1004=) c.7527C>T (p.Tyr2509=) n.8946-3500C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13780855G>C | CA359212659 | DNAH5 | c.8925C>G (p.Tyr2975Ter) c.8880C>G (p.Tyr2960Ter) n.9028-3500C>G c.9033C>G (p.Tyr3011Ter) c.7938C>G (p.Tyr2646Ter) c.4122C>G (p.Tyr1374Ter) c.3675C>G (p.Tyr1225Ter) c.3012C>G (p.Tyr1004Ter) c.7527C>G (p.Tyr2509Ter) n.8946-3500C>G | |
| 5 | g.13780855G= | CA1528435854 | DNAH5 | c.8925C= (p.Tyr2975=) c.8880C= (p.Tyr2960=) n.9028-3500C= c.9033C= (p.Tyr3011=) c.7938C= (p.Tyr2646=) c.4122C= (p.Tyr1374=) c.3675C= (p.Tyr1225=) c.3012C= (p.Tyr1004=) c.7527C= (p.Tyr2509=) n.8946-3500C= | |
| 5 | g.13780855G>T | CA359212660 | DNAH5 | c.8925C>A (p.Tyr2975Ter) c.8880C>A (p.Tyr2960Ter) n.9028-3500C>A c.9033C>A (p.Tyr3011Ter) c.7938C>A (p.Tyr2646Ter) c.4122C>A (p.Tyr1374Ter) c.3675C>A (p.Tyr1225Ter) c.3012C>A (p.Tyr1004Ter) c.7527C>A (p.Tyr2509Ter) n.8946-3500C>A | |
| 5 | g.13780856T>A | CA359212661 | DNAH5 | c.8924A>T (p.Tyr2975Phe) c.8879A>T (p.Tyr2960Phe) n.9028-3501A>T c.9032A>T (p.Tyr3011Phe) c.7937A>T (p.Tyr2646Phe) c.4121A>T (p.Tyr1374Phe) c.3674A>T (p.Tyr1225Phe) c.3011A>T (p.Tyr1004Phe) c.7526A>T (p.Tyr2509Phe) n.8946-3501A>T | |
| 5 | g.13780856T>C | CA359212662 | DNAH5 | c.8924A>G (p.Tyr2975Cys) c.8879A>G (p.Tyr2960Cys) n.9028-3501A>G c.9032A>G (p.Tyr3011Cys) c.7937A>G (p.Tyr2646Cys) c.4121A>G (p.Tyr1374Cys) c.3674A>G (p.Tyr1225Cys) c.3011A>G (p.Tyr1004Cys) c.7526A>G (p.Tyr2509Cys) n.8946-3501A>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13780856T>G | CA359212663 | DNAH5 | c.8924A>C (p.Tyr2975Ser) c.8879A>C (p.Tyr2960Ser) n.9028-3501A>C c.9032A>C (p.Tyr3011Ser) c.7937A>C (p.Tyr2646Ser) c.4121A>C (p.Tyr1374Ser) c.3674A>C (p.Tyr1225Ser) c.3011A>C (p.Tyr1004Ser) c.7526A>C (p.Tyr2509Ser) n.8946-3501A>C | |
| 5 | g.13780856T= | CA1528435855 | DNAH5 | c.8924A= (p.Tyr2975=) c.8879A= (p.Tyr2960=) n.9028-3501A= c.9032A= (p.Tyr3011=) c.7937A= (p.Tyr2646=) c.4121A= (p.Tyr1374=) c.3674A= (p.Tyr1225=) c.3011A= (p.Tyr1004=) c.7526A= (p.Tyr2509=) n.8946-3501A= | |
| 5 | g.13780857A>C | CA359212664 | DNAH5 | c.8923T>G (p.Tyr2975Asp) c.8878T>G (p.Tyr2960Asp) n.9028-3502T>G c.9031T>G (p.Tyr3011Asp) c.7936T>G (p.Tyr2646Asp) c.4120T>G (p.Tyr1374Asp) c.3673T>G (p.Tyr1225Asp) c.3010T>G (p.Tyr1004Asp) c.7525T>G (p.Tyr2509Asp) n.8946-3502T>G | |
| 5 | g.13780857A>G | CA359212666 | DNAH5 | c.8923T>C (p.Tyr2975His) c.8878T>C (p.Tyr2960His) n.9028-3502T>C c.9031T>C (p.Tyr3011His) c.7936T>C (p.Tyr2646His) c.4120T>C (p.Tyr1374His) c.3673T>C (p.Tyr1225His) c.3010T>C (p.Tyr1004His) c.7525T>C (p.Tyr2509His) n.8946-3502T>C | gnomAD v4 |
| 5 | g.13780857A>T | CA359212665 | DNAH5 | c.8923T>A (p.Tyr2975Asn) c.8878T>A (p.Tyr2960Asn) n.9028-3502T>A c.9031T>A (p.Tyr3011Asn) c.7936T>A (p.Tyr2646Asn) c.4120T>A (p.Tyr1374Asn) c.3673T>A (p.Tyr1225Asn) c.3010T>A (p.Tyr1004Asn) c.7525T>A (p.Tyr2509Asn) n.8946-3502T>A | |
| 5 | g.13780858G>A | CA443259065 | DNAH5 | c.8922C>T (p.Gly2974=) c.8877C>T (p.Gly2959=) n.9028-3503C>T c.9030C>T (p.Gly3010=) c.7935C>T (p.Gly2645=) c.4119C>T (p.Gly1373=) c.3672C>T (p.Gly1224=) c.3009C>T (p.Gly1003=) c.7524C>T (p.Gly2508=) n.8946-3503C>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13780858G>C | CA443259066 | DNAH5 | c.8922C>G (p.Gly2974=) c.8877C>G (p.Gly2959=) n.9028-3503C>G c.9030C>G (p.Gly3010=) c.7935C>G (p.Gly2645=) c.4119C>G (p.Gly1373=) c.3672C>G (p.Gly1224=) c.3009C>G (p.Gly1003=) c.7524C>G (p.Gly2508=) n.8946-3503C>G | |
| 5 | g.13780858G= | CA1528435856 | DNAH5 | c.8922C= (p.Gly2974=) c.8877C= (p.Gly2959=) n.9028-3503C= c.9030C= (p.Gly3010=) c.7935C= (p.Gly2645=) c.4119C= (p.Gly1373=) c.3672C= (p.Gly1224=) c.3009C= (p.Gly1003=) c.7524C= (p.Gly2508=) n.8946-3503C= | |
| 5 | g.13780858G>T | CA443259067 | DNAH5 | c.8922C>A (p.Gly2974=) c.8877C>A (p.Gly2959=) n.9028-3503C>A c.9030C>A (p.Gly3010=) c.7935C>A (p.Gly2645=) c.4119C>A (p.Gly1373=) c.3672C>A (p.Gly1224=) c.3009C>A (p.Gly1003=) c.7524C>A (p.Gly2508=) n.8946-3503C>A | |
| 5 | g.13780859C>A | CA359212667 | DNAH5 | c.8921G>T (p.Gly2974Val) c.8876G>T (p.Gly2959Val) n.9028-3504G>T c.9029G>T (p.Gly3010Val) c.7934G>T (p.Gly2645Val) c.4118G>T (p.Gly1373Val) c.3671G>T (p.Gly1224Val) c.3008G>T (p.Gly1003Val) c.7523G>T (p.Gly2508Val) n.8946-3504G>T | |
| 5 | g.13780859C= | CA1528435857 | DNAH5 | c.8921G= (p.Gly2974=) c.8876G= (p.Gly2959=) n.9028-3504G= c.9029G= (p.Gly3010=) c.7934G= (p.Gly2645=) c.4118G= (p.Gly1373=) c.3671G= (p.Gly1224=) c.3008G= (p.Gly1003=) c.7523G= (p.Gly2508=) n.8946-3504G= | |
| 5 | g.13780859C>G | CA359212668 | DNAH5 | c.8921G>C (p.Gly2974Ala) c.8876G>C (p.Gly2959Ala) n.9028-3504G>C c.9029G>C (p.Gly3010Ala) c.7934G>C (p.Gly2645Ala) c.4118G>C (p.Gly1373Ala) c.3671G>C (p.Gly1224Ala) c.3008G>C (p.Gly1003Ala) c.7523G>C (p.Gly2508Ala) n.8946-3504G>C | |
| 5 | g.13780859C>T | CA3202674 | DNAH5 | c.8921G>A (p.Gly2974Asp) c.8876G>A (p.Gly2959Asp) n.9028-3504G>A c.9029G>A (p.Gly3010Asp) c.7934G>A (p.Gly2645Asp) c.4118G>A (p.Gly1373Asp) c.3671G>A (p.Gly1224Asp) c.3008G>A (p.Gly1003Asp) c.7523G>A (p.Gly2508Asp) n.8946-3504G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13780860C>A | CA359212669 | DNAH5 | c.8920G>T (p.Gly2974Cys) c.8875G>T (p.Gly2959Cys) n.9028-3505G>T c.9028G>T (p.Gly3010Cys) c.7933G>T (p.Gly2645Cys) c.4117G>T (p.Gly1373Cys) c.3670G>T (p.Gly1224Cys) c.3007G>T (p.Gly1003Cys) c.7522G>T (p.Gly2508Cys) n.8946-3505G>T | |
| 5 | g.13780860C>G | CA359212670 | DNAH5 | c.8920G>C (p.Gly2974Arg) c.8875G>C (p.Gly2959Arg) n.9028-3505G>C c.9028G>C (p.Gly3010Arg) c.7933G>C (p.Gly2645Arg) c.4117G>C (p.Gly1373Arg) c.3670G>C (p.Gly1224Arg) c.3007G>C (p.Gly1003Arg) c.7522G>C (p.Gly2508Arg) n.8946-3505G>C | |
| 5 | g.13780860C>T | CA359212671 | DNAH5 | c.8920G>A (p.Gly2974Ser) c.8875G>A (p.Gly2959Ser) n.9028-3505G>A c.9028G>A (p.Gly3010Ser) c.7933G>A (p.Gly2645Ser) c.4117G>A (p.Gly1373Ser) c.3670G>A (p.Gly1224Ser) c.3007G>A (p.Gly1003Ser) c.7522G>A (p.Gly2508Ser) n.8946-3505G>A | |
| 5 | g.13780861A= | CA1528435858 | DNAH5 | c.8919T= (p.Ala2973=) c.8874T= (p.Ala2958=) n.9028-3506T= c.9027T= (p.Ala3009=) c.7932T= (p.Ala2644=) c.4116T= (p.Ala1372=) c.3669T= (p.Ala1223=) c.3006T= (p.Ala1002=) c.7521T= (p.Ala2507=) n.8946-3506T= | |
| 5 | g.13780861A>C | CA443259081 | DNAH5 | c.8919T>G (p.Ala2973=) c.8874T>G (p.Ala2958=) n.9028-3506T>G c.9027T>G (p.Ala3009=) c.7932T>G (p.Ala2644=) c.4116T>G (p.Ala1372=) c.3669T>G (p.Ala1223=) c.3006T>G (p.Ala1002=) c.7521T>G (p.Ala2507=) n.8946-3506T>G | |
| 5 | g.13780861A>G | CA443259084 | DNAH5 | c.8919T>C (p.Ala2973=) c.8874T>C (p.Ala2958=) n.9028-3506T>C c.9027T>C (p.Ala3009=) c.7932T>C (p.Ala2644=) c.4116T>C (p.Ala1372=) c.3669T>C (p.Ala1223=) c.3006T>C (p.Ala1002=) c.7521T>C (p.Ala2507=) n.8946-3506T>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13780861A>T | CA443259087 | DNAH5 | c.8919T>A (p.Ala2973=) c.8874T>A (p.Ala2958=) n.9028-3506T>A c.9027T>A (p.Ala3009=) c.7932T>A (p.Ala2644=) c.4116T>A (p.Ala1372=) c.3669T>A (p.Ala1223=) c.3006T>A (p.Ala1002=) c.7521T>A (p.Ala2507=) n.8946-3506T>A | |
| 5 | g.13780862G>A | CA359212672 | DNAH5 | c.8918C>T (p.Ala2973Val) c.8873C>T (p.Ala2958Val) n.9028-3507C>T c.9026C>T (p.Ala3009Val) c.7931C>T (p.Ala2644Val) c.4115C>T (p.Ala1372Val) c.3668C>T (p.Ala1223Val) c.3005C>T (p.Ala1002Val) c.7520C>T (p.Ala2507Val) n.8946-3507C>T | |
| 5 | g.13780862G>C | CA359212673 | DNAH5 | c.8918C>G (p.Ala2973Gly) c.8873C>G (p.Ala2958Gly) n.9028-3507C>G c.9026C>G (p.Ala3009Gly) c.7931C>G (p.Ala2644Gly) c.4115C>G (p.Ala1372Gly) c.3668C>G (p.Ala1223Gly) c.3005C>G (p.Ala1002Gly) c.7520C>G (p.Ala2507Gly) n.8946-3507C>G | |
| 5 | g.13780862G>T | CA359212674 | DNAH5 | c.8918C>A (p.Ala2973Asp) c.8873C>A (p.Ala2958Asp) n.9028-3507C>A c.9026C>A (p.Ala3009Asp) c.7931C>A (p.Ala2644Asp) c.4115C>A (p.Ala1372Asp) c.3668C>A (p.Ala1223Asp) c.3005C>A (p.Ala1002Asp) c.7520C>A (p.Ala2507Asp) n.8946-3507C>A | |
| 5 | g.13780863C>A | CA359212675 | DNAH5 | c.8917G>T (p.Ala2973Ser) c.8872G>T (p.Ala2958Ser) n.9028-3508G>T c.9025G>T (p.Ala3009Ser) c.7930G>T (p.Ala2644Ser) c.4114G>T (p.Ala1372Ser) c.3667G>T (p.Ala1223Ser) c.3004G>T (p.Ala1002Ser) c.7519G>T (p.Ala2507Ser) n.8946-3508G>T | |
| 5 | g.13780863C>G | CA359212677 | DNAH5 | c.8917G>C (p.Ala2973Pro) c.8872G>C (p.Ala2958Pro) n.9028-3508G>C c.9025G>C (p.Ala3009Pro) c.7930G>C (p.Ala2644Pro) c.4114G>C (p.Ala1372Pro) c.3667G>C (p.Ala1223Pro) c.3004G>C (p.Ala1002Pro) c.7519G>C (p.Ala2507Pro) n.8946-3508G>C | |
| 5 | g.13780863C>T | CA359212679 | DNAH5 | c.8917G>A (p.Ala2973Thr) c.8872G>A (p.Ala2958Thr) n.9028-3508G>A c.9025G>A (p.Ala3009Thr) c.7930G>A (p.Ala2644Thr) c.4114G>A (p.Ala1372Thr) c.3667G>A (p.Ala1223Thr) c.3004G>A (p.Ala1002Thr) c.7519G>A (p.Ala2507Thr) n.8946-3508G>A | |
| 5 | g.13780864A>C | CA359212681 | DNAH5 | c.8916T>G (p.Ile2972Met) c.8871T>G (p.Ile2957Met) n.9028-3509T>G c.9024T>G (p.Ile3008Met) c.7929T>G (p.Ile2643Met) c.4113T>G (p.Ile1371Met) c.3666T>G (p.Ile1222Met) c.3003T>G (p.Ile1001Met) c.7518T>G (p.Ile2506Met) n.8946-3509T>G | |
| 5 | g.13780864A>G | CA443259103 | DNAH5 | c.8916T>C (p.Ile2972=) c.8871T>C (p.Ile2957=) n.9028-3509T>C c.9024T>C (p.Ile3008=) c.7929T>C (p.Ile2643=) c.4113T>C (p.Ile1371=) c.3666T>C (p.Ile1222=) c.3003T>C (p.Ile1001=) c.7518T>C (p.Ile2506=) n.8946-3509T>C | |
| 5 | g.13780864A>T | CA443259107 | DNAH5 | c.8916T>A (p.Ile2972=) c.8871T>A (p.Ile2957=) n.9028-3509T>A c.9024T>A (p.Ile3008=) c.7929T>A (p.Ile2643=) c.4113T>A (p.Ile1371=) c.3666T>A (p.Ile1222=) c.3003T>A (p.Ile1001=) c.7518T>A (p.Ile2506=) n.8946-3509T>A | |
| 5 | g.13780865A= | CA1528435859 | DNAH5 | c.8915T= (p.Ile2972=) c.8870T= (p.Ile2957=) n.9028-3510T= c.9023T= (p.Ile3008=) c.7928T= (p.Ile2643=) c.4112T= (p.Ile1371=) c.3665T= (p.Ile1222=) c.3002T= (p.Ile1001=) c.7517T= (p.Ile2506=) n.8946-3510T= | |
| 5 | g.13780865A>C | CA359212682 | DNAH5 | c.8915T>G (p.Ile2972Ser) c.8870T>G (p.Ile2957Ser) n.9028-3510T>G c.9023T>G (p.Ile3008Ser) c.7928T>G (p.Ile2643Ser) c.4112T>G (p.Ile1371Ser) c.3665T>G (p.Ile1222Ser) c.3002T>G (p.Ile1001Ser) c.7517T>G (p.Ile2506Ser) n.8946-3510T>G | |
| 5 | g.13780865A>G | CA359212685 | DNAH5 | c.8915T>C (p.Ile2972Thr) c.8870T>C (p.Ile2957Thr) n.9028-3510T>C c.9023T>C (p.Ile3008Thr) c.7928T>C (p.Ile2643Thr) c.4112T>C (p.Ile1371Thr) c.3665T>C (p.Ile1222Thr) c.3002T>C (p.Ile1001Thr) c.7517T>C (p.Ile2506Thr) n.8946-3510T>C | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13780865A>T | CA359212683 | DNAH5 | c.8915T>A (p.Ile2972Asn) c.8870T>A (p.Ile2957Asn) n.9028-3510T>A c.9023T>A (p.Ile3008Asn) c.7928T>A (p.Ile2643Asn) c.4112T>A (p.Ile1371Asn) c.3665T>A (p.Ile1222Asn) c.3002T>A (p.Ile1001Asn) c.7517T>A (p.Ile2506Asn) n.8946-3510T>A | |
| 5 | g.13780866T>A | CA359212687 | DNAH5 | c.8914A>T (p.Ile2972Phe) c.8869A>T (p.Ile2957Phe) n.9028-3511A>T c.9022A>T (p.Ile3008Phe) c.7927A>T (p.Ile2643Phe) c.4111A>T (p.Ile1371Phe) c.3664A>T (p.Ile1222Phe) c.3001A>T (p.Ile1001Phe) c.7516A>T (p.Ile2506Phe) n.8946-3511A>T |