Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.13780852A>CCA443259023DNAH5c.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
5g.13780852A>GCA443259028DNAH5c.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
5g.13780852A>TCA443259030DNAH5c.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
5g.13780853A>CCA359212654DNAH5c.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
5g.13780853A>GCA359212655DNAH5c.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
5g.13780853A>TCA359212656DNAH5c.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
5g.13780854C>ACA359212657DNAH5c.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
5g.13780854C=CA1528435853DNAH5c.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=
5g.13780854C>GCA359212658DNAH5c.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
5g.13780854C>TCA3202672DNAH5c.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
5g.13780855G>ACA3202673DNAH5c.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
5g.13780855G>CCA359212659DNAH5c.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
5g.13780855G=CA1528435854DNAH5c.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=
5g.13780855G>TCA359212660DNAH5c.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
5g.13780856T>ACA359212661DNAH5c.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
5g.13780856T>CCA359212662DNAH5c.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
5g.13780856T>GCA359212663DNAH5c.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
5g.13780856T=CA1528435855DNAH5c.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=
5g.13780857A>CCA359212664DNAH5c.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
5g.13780857A>GCA359212666DNAH5c.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
5g.13780857A>TCA359212665DNAH5c.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
5g.13780858G>ACA443259065DNAH5c.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
5g.13780858G>CCA443259066DNAH5c.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
5g.13780858G=CA1528435856DNAH5c.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=
5g.13780858G>TCA443259067DNAH5c.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
5g.13780859C>ACA359212667DNAH5c.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
5g.13780859C=CA1528435857DNAH5c.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=
5g.13780859C>GCA359212668DNAH5c.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
5g.13780859C>TCA3202674DNAH5c.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
5g.13780860C>ACA359212669DNAH5c.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
5g.13780860C>GCA359212670DNAH5c.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
5g.13780860C>TCA359212671DNAH5c.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
5g.13780861A=CA1528435858DNAH5c.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=
5g.13780861A>CCA443259081DNAH5c.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
5g.13780861A>GCA443259084DNAH5c.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
5g.13780861A>TCA443259087DNAH5c.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
5g.13780862G>ACA359212672DNAH5c.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
5g.13780862G>CCA359212673DNAH5c.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
5g.13780862G>TCA359212674DNAH5c.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
5g.13780863C>ACA359212675DNAH5c.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
5g.13780863C>GCA359212677DNAH5c.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
5g.13780863C>TCA359212679DNAH5c.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
5g.13780864A>CCA359212681DNAH5c.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
5g.13780864A>GCA443259103DNAH5c.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
5g.13780864A>TCA443259107DNAH5c.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
5g.13780865A=CA1528435859DNAH5c.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=
5g.13780865A>CCA359212682DNAH5c.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
5g.13780865A>GCA359212685DNAH5c.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
5g.13780865A>TCA359212683DNAH5c.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
5g.13780866T>ACA359212687DNAH5c.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
5g.13780866T>CCA359212688DNAH5c.8914A>G (p.Ile2972Val)
c.8869A>G (p.Ile2957Val)
n.9028-3511A>G
c.9022A>G (p.Ile3008Val)
c.7927A>G (p.Ile2643Val)
c.4111A>G (p.Ile1371Val)
c.3664A>G (p.Ile1222Val)
c.3001A>G (p.Ile1001Val)
c.7516A>G (p.Ile2506Val)
n.8946-3511A>G
 dbSNP gnomAD v2 gnomAD v4
5g.13780866T>GCA359212690DNAH5c.8914A>C (p.Ile2972Leu)
c.8869A>C (p.Ile2957Leu)
n.9028-3511A>C
c.9022A>C (p.Ile3008Leu)
c.7927A>C (p.Ile2643Leu)
c.4111A>C (p.Ile1371Leu)
c.3664A>C (p.Ile1222Leu)
c.3001A>C (p.Ile1001Leu)
c.7516A>C (p.Ile2506Leu)
n.8946-3511A>C
5g.13780866T=CA1528435860DNAH5c.8914A= (p.Ile2972=)
c.8869A= (p.Ile2957=)
n.9028-3511A=
c.9022A= (p.Ile3008=)
c.7927A= (p.Ile2643=)
c.4111A= (p.Ile1371=)
c.3664A= (p.Ile1222=)
c.3001A= (p.Ile1001=)
c.7516A= (p.Ile2506=)
n.8946-3511A=
5g.13780867G>ACA443259125DNAH5c.8913C>T (p.Phe2971=)
c.8868C>T (p.Phe2956=)
n.9028-3512C>T
c.9021C>T (p.Phe3007=)
c.7926C>T (p.Phe2642=)
c.4110C>T (p.Phe1370=)
c.3663C>T (p.Phe1221=)
c.3000C>T (p.Phe1000=)
c.7515C>T (p.Phe2505=)
n.8946-3512C>T
 COSMIC
5g.13780867G>CCA359212691DNAH5c.8913C>G (p.Phe2971Leu)
c.8868C>G (p.Phe2956Leu)
n.9028-3512C>G
c.9021C>G (p.Phe3007Leu)
c.7926C>G (p.Phe2642Leu)
c.4110C>G (p.Phe1370Leu)
c.3663C>G (p.Phe1221Leu)
c.3000C>G (p.Phe1000Leu)
c.7515C>G (p.Phe2505Leu)
n.8946-3512C>G
5g.13780867G>TCA359212692DNAH5c.8913C>A (p.Phe2971Leu)
c.8868C>A (p.Phe2956Leu)
n.9028-3512C>A
c.9021C>A (p.Phe3007Leu)
c.7926C>A (p.Phe2642Leu)
c.4110C>A (p.Phe1370Leu)
c.3663C>A (p.Phe1221Leu)
c.3000C>A (p.Phe1000Leu)
c.7515C>A (p.Phe2505Leu)
n.8946-3512C>A
5g.13780868A>CCA359212694DNAH5c.8912T>G (p.Phe2971Cys)
c.8867T>G (p.Phe2956Cys)
n.9028-3513T>G
c.9020T>G (p.Phe3007Cys)
c.7925T>G (p.Phe2642Cys)
c.4109T>G (p.Phe1370Cys)
c.3662T>G (p.Phe1221Cys)
c.2999T>G (p.Phe1000Cys)
c.7514T>G (p.Phe2505Cys)
n.8946-3513T>G
5g.13780868A>GCA359212695DNAH5c.8912T>C (p.Phe2971Ser)
c.8867T>C (p.Phe2956Ser)
n.9028-3513T>C
c.9020T>C (p.Phe3007Ser)
c.7925T>C (p.Phe2642Ser)
c.4109T>C (p.Phe1370Ser)
c.3662T>C (p.Phe1221Ser)
c.2999T>C (p.Phe1000Ser)
c.7514T>C (p.Phe2505Ser)
n.8946-3513T>C
5g.13780868A>TCA359212698DNAH5c.8912T>A (p.Phe2971Tyr)
c.8867T>A (p.Phe2956Tyr)
n.9028-3513T>A
c.9020T>A (p.Phe3007Tyr)
c.7925T>A (p.Phe2642Tyr)
c.4109T>A (p.Phe1370Tyr)
c.3662T>A (p.Phe1221Tyr)
c.2999T>A (p.Phe1000Tyr)
c.7514T>A (p.Phe2505Tyr)
n.8946-3513T>A
5g.13780869A>CCA359212700DNAH5c.8911T>G (p.Phe2971Val)
c.8866T>G (p.Phe2956Val)
n.9028-3514T>G
c.9019T>G (p.Phe3007Val)
c.7924T>G (p.Phe2642Val)
c.4108T>G (p.Phe1370Val)
c.3661T>G (p.Phe1221Val)
c.2998T>G (p.Phe1000Val)
c.7513T>G (p.Phe2505Val)
n.8946-3514T>G
5g.13780869A>GCA359212702DNAH5c.8911T>C (p.Phe2971Leu)
c.8866T>C (p.Phe2956Leu)
n.9028-3514T>C
c.9019T>C (p.Phe3007Leu)
c.7924T>C (p.Phe2642Leu)
c.4108T>C (p.Phe1370Leu)
c.3661T>C (p.Phe1221Leu)
c.2998T>C (p.Phe1000Leu)
c.7513T>C (p.Phe2505Leu)
n.8946-3514T>C
5g.13780869A>TCA359212704DNAH5c.8911T>A (p.Phe2971Ile)
c.8866T>A (p.Phe2956Ile)
n.9028-3514T>A
c.9019T>A (p.Phe3007Ile)
c.7924T>A (p.Phe2642Ile)
c.4108T>A (p.Phe1370Ile)
c.3661T>A (p.Phe1221Ile)
c.2998T>A (p.Phe1000Ile)
c.7513T>A (p.Phe2505Ile)
n.8946-3514T>A
5g.13780869_13780870delinsCCA2499306900DNAH5c.8910_8911delinsG (p.Phe2971SerfsTer12)
c.8865_8866delinsG (p.Phe2956SerfsTer12)
n.9028-3515_9028-3514delinsG
c.9018_9019delinsG (p.Phe3007SerfsTer12)
c.7923_7924delinsG (p.Phe2642SerfsTer12)
c.4107_4108delinsG (p.Phe1370SerfsTer12)
c.3660_3661delinsG (p.Phe1221SerfsTer12)
c.2997_2998delinsG (p.Phe1000SerfsTer12)
c.7512_7513delinsG (p.Phe2505SerfsTer12)
n.8946-3515_8946-3514delinsG
5g.13780870T>ACA443259139DNAH5c.8910A>T (p.Ser2970=)
c.8865A>T (p.Ser2955=)
n.9028-3515A>T
c.9018A>T (p.Ser3006=)
c.7923A>T (p.Ser2641=)
c.4107A>T (p.Ser1369=)
c.3660A>T (p.Ser1220=)
c.2997A>T (p.Ser999=)
c.7512A>T (p.Ser2504=)
n.8946-3515A>T
5g.13780870T>CCA3202675DNAH5c.8910A>G (p.Ser2970=)
c.8865A>G (p.Ser2955=)
n.9028-3515A>G
c.9018A>G (p.Ser3006=)
c.7923A>G (p.Ser2641=)
c.4107A>G (p.Ser1369=)
c.3660A>G (p.Ser1220=)
c.2997A>G (p.Ser999=)
c.7512A>G (p.Ser2504=)
n.8946-3515A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13780870T>GCA443259146DNAH5c.8910A>C (p.Ser2970=)
c.8865A>C (p.Ser2955=)
n.9028-3515A>C
c.9018A>C (p.Ser3006=)
c.7923A>C (p.Ser2641=)
c.4107A>C (p.Ser1369=)
c.3660A>C (p.Ser1220=)
c.2997A>C (p.Ser999=)
c.7512A>C (p.Ser2504=)
n.8946-3515A>C
5g.13780870T=CA1528435861DNAH5c.8910A= (p.Ser2970=)
c.8865A= (p.Ser2955=)
n.9028-3515A=
c.9018A= (p.Ser3006=)
c.7923A= (p.Ser2641=)
c.4107A= (p.Ser1369=)
c.3660A= (p.Ser1220=)
c.2997A= (p.Ser999=)
c.7512A= (p.Ser2504=)
n.8946-3515A=
5g.13780871G>ACA113948904DNAH5c.8909C>T (p.Ser2970Leu)
c.8864C>T (p.Ser2955Leu)
n.9028-3516C>T
c.9017C>T (p.Ser3006Leu)
c.7922C>T (p.Ser2641Leu)
c.4106C>T (p.Ser1369Leu)
c.3659C>T (p.Ser1220Leu)
c.2996C>T (p.Ser999Leu)
c.7511C>T (p.Ser2504Leu)
n.8946-3516C>T
 dbSNP gnomAD v4
5g.13780871G>CCA359212706DNAH5c.8909C>G (p.Ser2970Ter)
c.8864C>G (p.Ser2955Ter)
n.9028-3516C>G
c.9017C>G (p.Ser3006Ter)
c.7922C>G (p.Ser2641Ter)
c.4106C>G (p.Ser1369Ter)
c.3659C>G (p.Ser1220Ter)
c.2996C>G (p.Ser999Ter)
c.7511C>G (p.Ser2504Ter)
n.8946-3516C>G
 gnomAD v4
5g.13780871G=CA1528435862DNAH5c.8909C= (p.Ser2970=)
c.8864C= (p.Ser2955=)
n.9028-3516C=
c.9017C= (p.Ser3006=)
c.7922C= (p.Ser2641=)
c.4106C= (p.Ser1369=)
c.3659C= (p.Ser1220=)
c.2996C= (p.Ser999=)
c.7511C= (p.Ser2504=)
n.8946-3516C=
5g.13780871G>TCA359212707DNAH5c.8909C>A (p.Ser2970Ter)
c.8864C>A (p.Ser2955Ter)
n.9028-3516C>A
c.9017C>A (p.Ser3006Ter)
c.7922C>A (p.Ser2641Ter)
c.4106C>A (p.Ser1369Ter)
c.3659C>A (p.Ser1220Ter)
c.2996C>A (p.Ser999Ter)
c.7511C>A (p.Ser2504Ter)
n.8946-3516C>A
5g.13780872A>CCA359212710DNAH5c.8908T>G (p.Ser2970Ala)
c.8863T>G (p.Ser2955Ala)
n.9028-3517T>G
c.9016T>G (p.Ser3006Ala)
c.7921T>G (p.Ser2641Ala)
c.4105T>G (p.Ser1369Ala)
c.3658T>G (p.Ser1220Ala)
c.2995T>G (p.Ser999Ala)
c.7510T>G (p.Ser2504Ala)
n.8946-3517T>G
5g.13780872A>GCA359212711DNAH5c.8908T>C (p.Ser2970Pro)
c.8863T>C (p.Ser2955Pro)
n.9028-3517T>C
c.9016T>C (p.Ser3006Pro)
c.7921T>C (p.Ser2641Pro)
c.4105T>C (p.Ser1369Pro)
c.3658T>C (p.Ser1220Pro)
c.2995T>C (p.Ser999Pro)
c.7510T>C (p.Ser2504Pro)
n.8946-3517T>C
5g.13780872A>TCA359212713DNAH5c.8908T>A (p.Ser2970Thr)
c.8863T>A (p.Ser2955Thr)
n.9028-3517T>A
c.9016T>A (p.Ser3006Thr)
c.7921T>A (p.Ser2641Thr)
c.4105T>A (p.Ser1369Thr)
c.3658T>A (p.Ser1220Thr)
c.2995T>A (p.Ser999Thr)
c.7510T>A (p.Ser2504Thr)
n.8946-3517T>A
5g.13780873A>CCA443259153DNAH5c.8907T>G (p.Ala2969=)
c.8862T>G (p.Ala2954=)
n.9028-3518T>G
c.9015T>G (p.Ala3005=)
c.7920T>G (p.Ala2640=)
c.4104T>G (p.Ala1368=)
c.3657T>G (p.Ala1219=)
c.2994T>G (p.Ala998=)
c.7509T>G (p.Ala2503=)
n.8946-3518T>G
5g.13780873A>GCA443259155DNAH5c.8907T>C (p.Ala2969=)
c.8862T>C (p.Ala2954=)
n.9028-3518T>C
c.9015T>C (p.Ala3005=)
c.7920T>C (p.Ala2640=)
c.4104T>C (p.Ala1368=)
c.3657T>C (p.Ala1219=)
c.2994T>C (p.Ala998=)
c.7509T>C (p.Ala2503=)
n.8946-3518T>C
5g.13780873A>TCA443259154DNAH5c.8907T>A (p.Ala2969=)
c.8862T>A (p.Ala2954=)
n.9028-3518T>A
c.9015T>A (p.Ala3005=)
c.7920T>A (p.Ala2640=)
c.4104T>A (p.Ala1368=)
c.3657T>A (p.Ala1219=)
c.2994T>A (p.Ala998=)
c.7509T>A (p.Ala2503=)
n.8946-3518T>A
5g.13780874G>ACA359212714DNAH5c.8906C>T (p.Ala2969Val)
c.8861C>T (p.Ala2954Val)
n.9028-3519C>T
c.9014C>T (p.Ala3005Val)
c.7919C>T (p.Ala2640Val)
c.4103C>T (p.Ala1368Val)
c.3656C>T (p.Ala1219Val)
c.2993C>T (p.Ala998Val)
c.7508C>T (p.Ala2503Val)
n.8946-3519C>T
5g.13780874G>CCA359212716DNAH5c.8906C>G (p.Ala2969Gly)
c.8861C>G (p.Ala2954Gly)
n.9028-3519C>G
c.9014C>G (p.Ala3005Gly)
c.7919C>G (p.Ala2640Gly)
c.4103C>G (p.Ala1368Gly)
c.3656C>G (p.Ala1219Gly)
c.2993C>G (p.Ala998Gly)
c.7508C>G (p.Ala2503Gly)
n.8946-3519C>G
 ClinVar dbSNP gnomAD v4 COSMIC
5g.13780874G=CA1528435863DNAH5c.8906C= (p.Ala2969=)
c.8861C= (p.Ala2954=)
n.9028-3519C=
c.9014C= (p.Ala3005=)
c.7919C= (p.Ala2640=)
c.4103C= (p.Ala1368=)
c.3656C= (p.Ala1219=)
c.2993C= (p.Ala998=)
c.7508C= (p.Ala2503=)
n.8946-3519C=
5g.13780874G>TCA359212718DNAH5c.8906C>A (p.Ala2969Asp)
c.8861C>A (p.Ala2954Asp)
n.9028-3519C>A
c.9014C>A (p.Ala3005Asp)
c.7919C>A (p.Ala2640Asp)
c.4103C>A (p.Ala1368Asp)
c.3656C>A (p.Ala1219Asp)
c.2993C>A (p.Ala998Asp)
c.7508C>A (p.Ala2503Asp)
n.8946-3519C>A
5g.13780875C>ACA3202676DNAH5c.8905G>T (p.Ala2969Ser)
c.8860G>T (p.Ala2954Ser)
n.9028-3520G>T
c.9013G>T (p.Ala3005Ser)
c.7918G>T (p.Ala2640Ser)
c.4102G>T (p.Ala1368Ser)
c.3655G>T (p.Ala1219Ser)
c.2992G>T (p.Ala998Ser)
c.7507G>T (p.Ala2503Ser)
n.8946-3520G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13780875C=CA1528435864DNAH5c.8905G= (p.Ala2969=)
c.8860G= (p.Ala2954=)
n.9028-3520G=
c.9013G= (p.Ala3005=)
c.7918G= (p.Ala2640=)
c.4102G= (p.Ala1368=)
c.3655G= (p.Ala1219=)
c.2992G= (p.Ala998=)
c.7507G= (p.Ala2503=)
n.8946-3520G=
5g.13780875C>GCA359212720DNAH5c.8905G>C (p.Ala2969Pro)
c.8860G>C (p.Ala2954Pro)
n.9028-3520G>C
c.9013G>C (p.Ala3005Pro)
c.7918G>C (p.Ala2640Pro)
c.4102G>C (p.Ala1368Pro)
c.3655G>C (p.Ala1219Pro)
c.2992G>C (p.Ala998Pro)
c.7507G>C (p.Ala2503Pro)
n.8946-3520G>C
5g.13780875C>TCA359212722DNAH5c.8905G>A (p.Ala2969Thr)
c.8860G>A (p.Ala2954Thr)
n.9028-3520G>A
c.9013G>A (p.Ala3005Thr)
c.7918G>A (p.Ala2640Thr)
c.4102G>A (p.Ala1368Thr)
c.3655G>A (p.Ala1219Thr)
c.2992G>A (p.Ala998Thr)
c.7507G>A (p.Ala2503Thr)
n.8946-3520G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13780876C>ACA359212726DNAH5c.8904G>T (p.Leu2968Phe)
c.8859G>T (p.Leu2953Phe)
n.9028-3521G>T
c.9012G>T (p.Leu3004Phe)
c.7917G>T (p.Leu2639Phe)
c.4101G>T (p.Leu1367Phe)
c.3654G>T (p.Leu1218Phe)
c.2991G>T (p.Leu997Phe)
c.7506G>T (p.Leu2502Phe)
n.8946-3521G>T
5g.13780876C>GCA359212727DNAH5c.8904G>C (p.Leu2968Phe)
c.8859G>C (p.Leu2953Phe)
n.9028-3521G>C
c.9012G>C (p.Leu3004Phe)
c.7917G>C (p.Leu2639Phe)
c.4101G>C (p.Leu1367Phe)
c.3654G>C (p.Leu1218Phe)
c.2991G>C (p.Leu997Phe)
c.7506G>C (p.Leu2502Phe)
n.8946-3521G>C
5g.13780876C>TCA443259165DNAH5c.8904G>A (p.Leu2968=)
c.8859G>A (p.Leu2953=)
n.9028-3521G>A
c.9012G>A (p.Leu3004=)
c.7917G>A (p.Leu2639=)
c.4101G>A (p.Leu1367=)
c.3654G>A (p.Leu1218=)
c.2991G>A (p.Leu997=)
c.7506G>A (p.Leu2502=)
n.8946-3521G>A
5g.13780877A>CCA359212732DNAH5c.8903T>G (p.Leu2968Trp)
c.8858T>G (p.Leu2953Trp)
n.9028-3522T>G
c.9011T>G (p.Leu3004Trp)
c.7916T>G (p.Leu2639Trp)
c.4100T>G (p.Leu1367Trp)
c.3653T>G (p.Leu1218Trp)
c.2990T>G (p.Leu997Trp)
c.7505T>G (p.Leu2502Trp)
n.8946-3522T>G
5g.13780877A>GCA359212730DNAH5c.8903T>C (p.Leu2968Ser)
c.8858T>C (p.Leu2953Ser)
n.9028-3522T>C
c.9011T>C (p.Leu3004Ser)
c.7916T>C (p.Leu2639Ser)
c.4100T>C (p.Leu1367Ser)
c.3653T>C (p.Leu1218Ser)
c.2990T>C (p.Leu997Ser)
c.7505T>C (p.Leu2502Ser)
n.8946-3522T>C
5g.13780877A>TCA359212729DNAH5c.8903T>A (p.Leu2968Ter)
c.8858T>A (p.Leu2953Ter)
n.9028-3522T>A
c.9011T>A (p.Leu3004Ter)
c.7916T>A (p.Leu2639Ter)
c.4100T>A (p.Leu1367Ter)
c.3653T>A (p.Leu1218Ter)
c.2990T>A (p.Leu997Ter)
c.7505T>A (p.Leu2502Ter)
n.8946-3522T>A
5g.13780878A=CA1528435865DNAH5c.8902T= (p.Leu2968=)
c.8857T= (p.Leu2953=)
n.9028-3523T=
c.9010T= (p.Leu3004=)
c.7915T= (p.Leu2639=)
c.4099T= (p.Leu1367=)
c.3652T= (p.Leu1218=)
c.2989T= (p.Leu997=)
c.7504T= (p.Leu2502=)
n.8946-3523T=
5g.13780878A>CCA359212734DNAH5c.8902T>G (p.Leu2968Val)
c.8857T>G (p.Leu2953Val)
n.9028-3523T>G
c.9010T>G (p.Leu3004Val)
c.7915T>G (p.Leu2639Val)
c.4099T>G (p.Leu1367Val)
c.3652T>G (p.Leu1218Val)
c.2989T>G (p.Leu997Val)
c.7504T>G (p.Leu2502Val)
n.8946-3523T>G
5g.13780878A>GCA113948912DNAH5c.8902T>C (p.Leu2968=)
c.8857T>C (p.Leu2953=)
n.9028-3523T>C
c.9010T>C (p.Leu3004=)
c.7915T>C (p.Leu2639=)
c.4099T>C (p.Leu1367=)
c.3652T>C (p.Leu1218=)
c.2989T>C (p.Leu997=)
c.7504T>C (p.Leu2502=)
n.8946-3523T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.13780878A>TCA359212735DNAH5c.8902T>A (p.Leu2968Met)
c.8857T>A (p.Leu2953Met)
n.9028-3523T>A
c.9010T>A (p.Leu3004Met)
c.7915T>A (p.Leu2639Met)
c.4099T>A (p.Leu1367Met)
c.3652T>A (p.Leu1218Met)
c.2989T>A (p.Leu997Met)
c.7504T>A (p.Leu2502Met)
n.8946-3523T>A
5g.13780879C>ACA359212737DNAH5c.8901G>T (p.Arg2967Ser)
c.8856G>T (p.Arg2952Ser)
n.9028-3524G>T
c.9009G>T (p.Arg3003Ser)
c.7914G>T (p.Arg2638Ser)
c.4098G>T (p.Arg1366Ser)
c.3651G>T (p.Arg1217Ser)
c.2988G>T (p.Arg996Ser)
c.7503G>T (p.Arg2501Ser)
n.8946-3524G>T
 gnomAD v4
5g.13780879C=CA1528435866DNAH5c.8901G= (p.Arg2967=)
c.8856G= (p.Arg2952=)
n.9028-3524G=
c.9009G= (p.Arg3003=)
c.7914G= (p.Arg2638=)
c.4098G= (p.Arg1366=)
c.3651G= (p.Arg1217=)
c.2988G= (p.Arg996=)
c.7503G= (p.Arg2501=)
n.8946-3524G=
5g.13780879C>GCA3202677DNAH5c.8901G>C (p.Arg2967Ser)
c.8856G>C (p.Arg2952Ser)
n.9028-3524G>C
c.9009G>C (p.Arg3003Ser)
c.7914G>C (p.Arg2638Ser)
c.4098G>C (p.Arg1366Ser)
c.3651G>C (p.Arg1217Ser)
c.2988G>C (p.Arg996Ser)
c.7503G>C (p.Arg2501Ser)
n.8946-3524G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13780879C>TCA443259177DNAH5c.8901G>A (p.Arg2967=)
c.8856G>A (p.Arg2952=)
n.9028-3524G>A
c.9009G>A (p.Arg3003=)
c.7914G>A (p.Arg2638=)
c.4098G>A (p.Arg1366=)
c.3651G>A (p.Arg1217=)
c.2988G>A (p.Arg996=)
c.7503G>A (p.Arg2501=)
n.8946-3524G>A
 ClinVar dbSNP gnomAD v2 COSMIC
5g.13780880C>ACA359212740DNAH5c.8900G>T (p.Arg2967Met)
c.8855G>T (p.Arg2952Met)
n.9028-3525G>T
c.9008G>T (p.Arg3003Met)
c.7913G>T (p.Arg2638Met)
c.4097G>T (p.Arg1366Met)
c.3650G>T (p.Arg1217Met)
c.2987G>T (p.Arg996Met)
c.7502G>T (p.Arg2501Met)
n.8946-3525G>T
 COSMIC
5g.13780880C>GCA359212741DNAH5c.8900G>C (p.Arg2967Thr)
c.8855G>C (p.Arg2952Thr)
n.9028-3525G>C
c.9008G>C (p.Arg3003Thr)
c.7913G>C (p.Arg2638Thr)
c.4097G>C (p.Arg1366Thr)
c.3650G>C (p.Arg1217Thr)
c.2987G>C (p.Arg996Thr)
c.7502G>C (p.Arg2501Thr)
n.8946-3525G>C
5g.13780880C>TCA359212743DNAH5c.8900G>A (p.Arg2967Lys)
c.8855G>A (p.Arg2952Lys)
n.9028-3525G>A
c.9008G>A (p.Arg3003Lys)
c.7913G>A (p.Arg2638Lys)
c.4097G>A (p.Arg1366Lys)
c.3650G>A (p.Arg1217Lys)
c.2987G>A (p.Arg996Lys)
c.7502G>A (p.Arg2501Lys)
n.8946-3525G>A
5g.13780881T>ACA359212744DNAH5c.8899A>T (p.Arg2967Trp)
c.8854A>T (p.Arg2952Trp)
n.9028-3526A>T
c.9007A>T (p.Arg3003Trp)
c.7912A>T (p.Arg2638Trp)
c.4096A>T (p.Arg1366Trp)
c.3649A>T (p.Arg1217Trp)
c.2986A>T (p.Arg996Trp)
c.7501A>T (p.Arg2501Trp)
n.8946-3526A>T
5g.13780881T>CCA359212745DNAH5c.8899A>G (p.Arg2967Gly)
c.8854A>G (p.Arg2952Gly)
n.9028-3526A>G
c.9007A>G (p.Arg3003Gly)
c.7912A>G (p.Arg2638Gly)
c.4096A>G (p.Arg1366Gly)
c.3649A>G (p.Arg1217Gly)
c.2986A>G (p.Arg996Gly)
c.7501A>G (p.Arg2501Gly)
n.8946-3526A>G
5g.13780881T>GCA443259189DNAH5c.8899A>C (p.Arg2967=)
c.8854A>C (p.Arg2952=)
n.9028-3526A>C
c.9007A>C (p.Arg3003=)
c.7912A>C (p.Arg2638=)
c.4096A>C (p.Arg1366=)
c.3649A>C (p.Arg1217=)
c.2986A>C (p.Arg996=)
c.7501A>C (p.Arg2501=)
n.8946-3526A>C
5g.13780882C>ACA443259193DNAH5c.8898G>T (p.Thr2966=)
c.8853G>T (p.Thr2951=)
n.9028-3527G>T
c.9006G>T (p.Thr3002=)
c.7911G>T (p.Thr2637=)
c.4095G>T (p.Thr1365=)
c.3648G>T (p.Thr1216=)
c.2985G>T (p.Thr995=)
c.7500G>T (p.Thr2500=)
n.8946-3527G>T
 ClinVar dbSNP
5g.13780882C=CA1528435867DNAH5c.8898G= (p.Thr2966=)
c.8853G= (p.Thr2951=)
n.9028-3527G=
c.9006G= (p.Thr3002=)
c.7911G= (p.Thr2637=)
c.4095G= (p.Thr1365=)
c.3648G= (p.Thr1216=)
c.2985G= (p.Thr995=)
c.7500G= (p.Thr2500=)
n.8946-3527G=
5g.13780882C>GCA3202678DNAH5c.8898G>C (p.Thr2966=)
c.8853G>C (p.Thr2951=)
n.9028-3527G>C
c.9006G>C (p.Thr3002=)
c.7911G>C (p.Thr2637=)
c.4095G>C (p.Thr1365=)
c.3648G>C (p.Thr1216=)
c.2985G>C (p.Thr995=)
c.7500G>C (p.Thr2500=)
n.8946-3527G>C
 dbSNP ExAC gnomAD v2
5g.13780882C>TCA175778DNAH5c.8898G>A (p.Thr2966=)
c.8853G>A (p.Thr2951=)
n.9028-3527G>A
c.9006G>A (p.Thr3002=)
c.7911G>A (p.Thr2637=)
c.4095G>A (p.Thr1365=)
c.3648G>A (p.Thr1216=)
c.2985G>A (p.Thr995=)
c.7500G>A (p.Thr2500=)
n.8946-3527G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13780883G>ACA3202679DNAH5c.8897C>T (p.Thr2966Met)
c.8852C>T (p.Thr2951Met)
n.9028-3528C>T
c.9005C>T (p.Thr3002Met)
c.7910C>T (p.Thr2637Met)
c.4094C>T (p.Thr1365Met)
c.3647C>T (p.Thr1216Met)
c.2984C>T (p.Thr995Met)
c.7499C>T (p.Thr2500Met)
n.8946-3528C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13780883G>CCA359212748DNAH5c.8897C>G (p.Thr2966Arg)
c.8852C>G (p.Thr2951Arg)
n.9028-3528C>G
c.9005C>G (p.Thr3002Arg)
c.7910C>G (p.Thr2637Arg)
c.4094C>G (p.Thr1365Arg)
c.3647C>G (p.Thr1216Arg)
c.2984C>G (p.Thr995Arg)
c.7499C>G (p.Thr2500Arg)
n.8946-3528C>G
5g.13780883G=CA1528435868DNAH5c.8897C= (p.Thr2966=)
c.8852C= (p.Thr2951=)
n.9028-3528C=
c.9005C= (p.Thr3002=)
c.7910C= (p.Thr2637=)
c.4094C= (p.Thr1365=)
c.3647C= (p.Thr1216=)
c.2984C= (p.Thr995=)
c.7499C= (p.Thr2500=)
n.8946-3528C=
5g.13780883G>TCA359212750DNAH5c.8897C>A (p.Thr2966Lys)
c.8852C>A (p.Thr2951Lys)
n.9028-3528C>A
c.9005C>A (p.Thr3002Lys)
c.7910C>A (p.Thr2637Lys)
c.4094C>A (p.Thr1365Lys)
c.3647C>A (p.Thr1216Lys)
c.2984C>A (p.Thr995Lys)
c.7499C>A (p.Thr2500Lys)
n.8946-3528C>A
5g.13780884T>ACA359212755DNAH5c.8896A>T (p.Thr2966Ser)
c.8851A>T (p.Thr2951Ser)
n.9028-3529A>T
c.9004A>T (p.Thr3002Ser)
c.7909A>T (p.Thr2637Ser)
c.4093A>T (p.Thr1365Ser)
c.3646A>T (p.Thr1216Ser)
c.2983A>T (p.Thr995Ser)
c.7498A>T (p.Thr2500Ser)
n.8946-3529A>T
5g.13780884T>CCA359212754DNAH5c.8896A>G (p.Thr2966Ala)
c.8851A>G (p.Thr2951Ala)
n.9028-3529A>G
c.9004A>G (p.Thr3002Ala)
c.7909A>G (p.Thr2637Ala)
c.4093A>G (p.Thr1365Ala)
c.3646A>G (p.Thr1216Ala)
c.2983A>G (p.Thr995Ala)
c.7498A>G (p.Thr2500Ala)
n.8946-3529A>G
 gnomAD v4
5g.13780884T>GCA359212752DNAH5c.8896A>C (p.Thr2966Pro)
c.8851A>C (p.Thr2951Pro)
n.9028-3529A>C
c.9004A>C (p.Thr3002Pro)
c.7909A>C (p.Thr2637Pro)
c.4093A>C (p.Thr1365Pro)
c.3646A>C (p.Thr1216Pro)
c.2983A>C (p.Thr995Pro)
c.7498A>C (p.Thr2500Pro)
n.8946-3529A>C
5g.13780885C>ACA443259210DNAH5c.8895G>T (p.Leu2965=)
c.8850G>T (p.Leu2950=)
n.9028-3530G>T
c.9003G>T (p.Leu3001=)
c.7908G>T (p.Leu2636=)
c.4092G>T (p.Leu1364=)
c.3645G>T (p.Leu1215=)
c.2982G>T (p.Leu994=)
c.7497G>T (p.Leu2499=)
n.8946-3530G>T
5g.13780885C>GCA443259214DNAH5c.8895G>C (p.Leu2965=)
c.8850G>C (p.Leu2950=)
n.9028-3530G>C
c.9003G>C (p.Leu3001=)
c.7908G>C (p.Leu2636=)
c.4092G>C (p.Leu1364=)
c.3645G>C (p.Leu1215=)
c.2982G>C (p.Leu994=)
c.7497G>C (p.Leu2499=)
n.8946-3530G>C
5g.13780885C>TCA443259216DNAH5c.8895G>A (p.Leu2965=)
c.8850G>A (p.Leu2950=)
n.9028-3530G>A
c.9003G>A (p.Leu3001=)
c.7908G>A (p.Leu2636=)
c.4092G>A (p.Leu1364=)
c.3645G>A (p.Leu1215=)
c.2982G>A (p.Leu994=)
c.7497G>A (p.Leu2499=)
n.8946-3530G>A
 gnomAD v4
5g.13780886A>CCA359212757DNAH5c.8894T>G (p.Leu2965Arg)
c.8849T>G (p.Leu2950Arg)
n.9028-3531T>G
c.9002T>G (p.Leu3001Arg)
c.7907T>G (p.Leu2636Arg)
c.4091T>G (p.Leu1364Arg)
c.3644T>G (p.Leu1215Arg)
c.2981T>G (p.Leu994Arg)
c.7496T>G (p.Leu2499Arg)
n.8946-3531T>G
5g.13780886A>GCA359212759DNAH5c.8894T>C (p.Leu2965Pro)
c.8849T>C (p.Leu2950Pro)
n.9028-3531T>C
c.9002T>C (p.Leu3001Pro)
c.7907T>C (p.Leu2636Pro)
c.4091T>C (p.Leu1364Pro)
c.3644T>C (p.Leu1215Pro)
c.2981T>C (p.Leu994Pro)
c.7496T>C (p.Leu2499Pro)
n.8946-3531T>C
5g.13780886A>TCA359212760DNAH5c.8894T>A (p.Leu2965Gln)
c.8849T>A (p.Leu2950Gln)
n.9028-3531T>A
c.9002T>A (p.Leu3001Gln)
c.7907T>A (p.Leu2636Gln)
c.4091T>A (p.Leu1364Gln)
c.3644T>A (p.Leu1215Gln)
c.2981T>A (p.Leu994Gln)
c.7496T>A (p.Leu2499Gln)
n.8946-3531T>A
5g.13780887G>ACA443259220DNAH5c.8893C>T (p.Leu2965=)
c.8848C>T (p.Leu2950=)
n.9028-3532C>T
c.9001C>T (p.Leu3001=)
c.7906C>T (p.Leu2636=)
c.4090C>T (p.Leu1364=)
c.3643C>T (p.Leu1215=)
c.2980C>T (p.Leu994=)
c.7495C>T (p.Leu2499=)
n.8946-3532C>T
 COSMIC
5g.13780887G>CCA359212762DNAH5c.8893C>G (p.Leu2965Val)
c.8848C>G (p.Leu2950Val)
n.9028-3532C>G
c.9001C>G (p.Leu3001Val)
c.7906C>G (p.Leu2636Val)
c.4090C>G (p.Leu1364Val)
c.3643C>G (p.Leu1215Val)
c.2980C>G (p.Leu994Val)
c.7495C>G (p.Leu2499Val)
n.8946-3532C>G
5g.13780887G>TCA359212763DNAH5c.8893C>A (p.Leu2965Met)
c.8848C>A (p.Leu2950Met)
n.9028-3532C>A
c.9001C>A (p.Leu3001Met)
c.7906C>A (p.Leu2636Met)
c.4090C>A (p.Leu1364Met)
c.3643C>A (p.Leu1215Met)
c.2980C>A (p.Leu994Met)
c.7495C>A (p.Leu2499Met)
n.8946-3532C>A
5g.13780888G>ACA443259228DNAH5c.8892C>T (p.Ser2964=)
c.8847C>T (p.Ser2949=)
n.9028-3533C>T
c.9000C>T (p.Ser3000=)
c.7905C>T (p.Ser2635=)
c.4089C>T (p.Ser1363=)
c.3642C>T (p.Ser1214=)
c.2979C>T (p.Ser993=)
c.7494C>T (p.Ser2498=)
n.8946-3533C>T
5g.13780888G>CCA359212764DNAH5c.8892C>G (p.Ser2964Arg)
c.8847C>G (p.Ser2949Arg)
n.9028-3533C>G
c.9000C>G (p.Ser3000Arg)
c.7905C>G (p.Ser2635Arg)
c.4089C>G (p.Ser1363Arg)
c.3642C>G (p.Ser1214Arg)
c.2979C>G (p.Ser993Arg)
c.7494C>G (p.Ser2498Arg)
n.8946-3533C>G
5g.13780888G>TCA359212766DNAH5c.8892C>A (p.Ser2964Arg)
c.8847C>A (p.Ser2949Arg)
n.9028-3533C>A
c.9000C>A (p.Ser3000Arg)
c.7905C>A (p.Ser2635Arg)
c.4089C>A (p.Ser1363Arg)
c.3642C>A (p.Ser1214Arg)
c.2979C>A (p.Ser993Arg)
c.7494C>A (p.Ser2498Arg)
n.8946-3533C>A
5g.13780889C>ACA359212770DNAH5c.8891G>T (p.Ser2964Ile)
c.8846G>T (p.Ser2949Ile)
n.9028-3534G>T
c.8999G>T (p.Ser3000Ile)
c.7904G>T (p.Ser2635Ile)
c.4088G>T (p.Ser1363Ile)
c.3641G>T (p.Ser1214Ile)
c.2978G>T (p.Ser993Ile)
c.7493G>T (p.Ser2498Ile)
n.8946-3534G>T
 gnomAD v4
5g.13780889C=CA1528435869DNAH5c.8891G= (p.Ser2964=)
c.8846G= (p.Ser2949=)
n.9028-3534G=
c.8999G= (p.Ser3000=)
c.7904G= (p.Ser2635=)
c.4088G= (p.Ser1363=)
c.3641G= (p.Ser1214=)
c.2978G= (p.Ser993=)
c.7493G= (p.Ser2498=)
n.8946-3534G=
5g.13780889C>GCA113948930DNAH5c.8891G>C (p.Ser2964Thr)
c.8846G>C (p.Ser2949Thr)
n.9028-3534G>C
c.8999G>C (p.Ser3000Thr)
c.7904G>C (p.Ser2635Thr)
c.4088G>C (p.Ser1363Thr)
c.3641G>C (p.Ser1214Thr)
c.2978G>C (p.Ser993Thr)
c.7493G>C (p.Ser2498Thr)
n.8946-3534G>C
 dbSNP gnomAD v3 gnomAD v4
5g.13780889C>TCA359212769DNAH5c.8891G>A (p.Ser2964Asn)
c.8846G>A (p.Ser2949Asn)
n.9028-3534G>A
c.8999G>A (p.Ser3000Asn)
c.7904G>A (p.Ser2635Asn)
c.4088G>A (p.Ser1363Asn)
c.3641G>A (p.Ser1214Asn)
c.2978G>A (p.Ser993Asn)
c.7493G>A (p.Ser2498Asn)
n.8946-3534G>A
 dbSNP gnomAD v3 gnomAD v4
5g.13780890T>ACA359212771DNAH5c.8890A>T (p.Ser2964Cys)
c.8845A>T (p.Ser2949Cys)
n.9028-3535A>T
c.8998A>T (p.Ser3000Cys)
c.7903A>T (p.Ser2635Cys)
c.4087A>T (p.Ser1363Cys)
c.3640A>T (p.Ser1214Cys)
c.2977A>T (p.Ser993Cys)
c.7492A>T (p.Ser2498Cys)
n.8946-3535A>T
5g.13780890T>CCA359212773DNAH5c.8890A>G (p.Ser2964Gly)
c.8845A>G (p.Ser2949Gly)
n.9028-3535A>G
c.8998A>G (p.Ser3000Gly)
c.7903A>G (p.Ser2635Gly)
c.4087A>G (p.Ser1363Gly)
c.3640A>G (p.Ser1214Gly)
c.2977A>G (p.Ser993Gly)
c.7492A>G (p.Ser2498Gly)
n.8946-3535A>G
5g.13780890T>GCA359212774DNAH5c.8890A>C (p.Ser2964Arg)
c.8845A>C (p.Ser2949Arg)
n.9028-3535A>C
c.8998A>C (p.Ser3000Arg)
c.7903A>C (p.Ser2635Arg)
c.4087A>C (p.Ser1363Arg)
c.3640A>C (p.Ser1214Arg)
c.2977A>C (p.Ser993Arg)
c.7492A>C (p.Ser2498Arg)
n.8946-3535A>C
 dbSNP gnomAD v3 gnomAD v4
5g.13780890T=CA1528435870DNAH5c.8890A= (p.Ser2964=)
c.8845A= (p.Ser2949=)
n.9028-3535A=
c.8998A= (p.Ser3000=)
c.7903A= (p.Ser2635=)
c.4087A= (p.Ser1363=)
c.3640A= (p.Ser1214=)
c.2977A= (p.Ser993=)
c.7492A= (p.Ser2498=)
n.8946-3535A=
5g.13780891C>ACA359212776DNAH5c.8889G>T (p.Gln2963His)
c.8844G>T (p.Gln2948His)
n.9028-3536G>T
c.8997G>T (p.Gln2999His)
c.7902G>T (p.Gln2634His)
c.4086G>T (p.Gln1362His)
c.3639G>T (p.Gln1213His)
c.2976G>T (p.Gln992His)
c.7491G>T (p.Gln2497His)
n.8946-3536G>T
 gnomAD v4
5g.13780891C>GCA359212777DNAH5c.8889G>C (p.Gln2963His)
c.8844G>C (p.Gln2948His)
n.9028-3536G>C
c.8997G>C (p.Gln2999His)
c.7902G>C (p.Gln2634His)
c.4086G>C (p.Gln1362His)
c.3639G>C (p.Gln1213His)
c.2976G>C (p.Gln992His)
c.7491G>C (p.Gln2497His)
n.8946-3536G>C
5g.13780891C>TCA443259253DNAH5c.8889G>A (p.Gln2963=)
c.8844G>A (p.Gln2948=)
n.9028-3536G>A
c.8997G>A (p.Gln2999=)
c.7902G>A (p.Gln2634=)
c.4086G>A (p.Gln1362=)
c.3639G>A (p.Gln1213=)
c.2976G>A (p.Gln992=)
c.7491G>A (p.Gln2497=)
n.8946-3536G>A
5g.13780892T>ACA359212779DNAH5c.8888A>T (p.Gln2963Leu)
c.8843A>T (p.Gln2948Leu)
n.9028-3537A>T
c.8996A>T (p.Gln2999Leu)
c.7901A>T (p.Gln2634Leu)
c.4085A>T (p.Gln1362Leu)
c.3638A>T (p.Gln1213Leu)
c.2975A>T (p.Gln992Leu)
c.7490A>T (p.Gln2497Leu)
n.8946-3537A>T
5g.13780892T>CCA359212781DNAH5c.8888A>G (p.Gln2963Arg)
c.8843A>G (p.Gln2948Arg)
n.9028-3537A>G
c.8996A>G (p.Gln2999Arg)
c.7901A>G (p.Gln2634Arg)
c.4085A>G (p.Gln1362Arg)
c.3638A>G (p.Gln1213Arg)
c.2975A>G (p.Gln992Arg)
c.7490A>G (p.Gln2497Arg)
n.8946-3537A>G
5g.13780892T>GCA359212780DNAH5c.8888A>C (p.Gln2963Pro)
c.8843A>C (p.Gln2948Pro)
n.9028-3537A>C
c.8996A>C (p.Gln2999Pro)
c.7901A>C (p.Gln2634Pro)
c.4085A>C (p.Gln1362Pro)
c.3638A>C (p.Gln1213Pro)
c.2975A>C (p.Gln992Pro)
c.7490A>C (p.Gln2497Pro)
n.8946-3537A>C
5g.13780893G>ACA359212783DNAH5c.8887C>T (p.Gln2963Ter)
c.8842C>T (p.Gln2948Ter)
n.9028-3538C>T
c.8995C>T (p.Gln2999Ter)
c.7900C>T (p.Gln2634Ter)
c.4084C>T (p.Gln1362Ter)
c.3637C>T (p.Gln1213Ter)
c.2974C>T (p.Gln992Ter)
c.7489C>T (p.Gln2497Ter)
n.8946-3538C>T
5g.13780893G>CCA359212785DNAH5c.8887C>G (p.Gln2963Glu)
c.8842C>G (p.Gln2948Glu)
n.9028-3538C>G
c.8995C>G (p.Gln2999Glu)
c.7900C>G (p.Gln2634Glu)
c.4084C>G (p.Gln1362Glu)
c.3637C>G (p.Gln1213Glu)
c.2974C>G (p.Gln992Glu)
c.7489C>G (p.Gln2497Glu)
n.8946-3538C>G
5g.13780893G>TCA359212786DNAH5c.8887C>A (p.Gln2963Lys)
c.8842C>A (p.Gln2948Lys)
n.9028-3538C>A
c.8995C>A (p.Gln2999Lys)
c.7900C>A (p.Gln2634Lys)
c.4084C>A (p.Gln1362Lys)
c.3637C>A (p.Gln1213Lys)
c.2974C>A (p.Gln992Lys)
c.7489C>A (p.Gln2497Lys)
n.8946-3538C>A
5g.13780894C>ACA359212788DNAH5c.8886G>T (p.Lys2962Asn)
c.8841G>T (p.Lys2947Asn)
n.9028-3539G>T
c.8994G>T (p.Lys2998Asn)
c.7899G>T (p.Lys2633Asn)
c.4083G>T (p.Lys1361Asn)
c.3636G>T (p.Lys1212Asn)
c.2973G>T (p.Lys991Asn)
c.7488G>T (p.Lys2496Asn)
n.8946-3539G>T
5g.13780894C>GCA359212789DNAH5c.8886G>C (p.Lys2962Asn)
c.8841G>C (p.Lys2947Asn)
n.9028-3539G>C
c.8994G>C (p.Lys2998Asn)
c.7899G>C (p.Lys2633Asn)
c.4083G>C (p.Lys1361Asn)
c.3636G>C (p.Lys1212Asn)
c.2973G>C (p.Lys991Asn)
c.7488G>C (p.Lys2496Asn)
n.8946-3539G>C
5g.13780894C>TCA443259262DNAH5c.8886G>A (p.Lys2962=)
c.8841G>A (p.Lys2947=)
n.9028-3539G>A
c.8994G>A (p.Lys2998=)
c.7899G>A (p.Lys2633=)
c.4083G>A (p.Lys1361=)
c.3636G>A (p.Lys1212=)
c.2973G>A (p.Lys991=)
c.7488G>A (p.Lys2496=)
n.8946-3539G>A
 gnomAD v4
5g.13780895T>ACA359212791DNAH5c.8885A>T (p.Lys2962Met)
c.8840A>T (p.Lys2947Met)
n.9028-3540A>T
c.8993A>T (p.Lys2998Met)
c.7898A>T (p.Lys2633Met)
c.4082A>T (p.Lys1361Met)
c.3635A>T (p.Lys1212Met)
c.2972A>T (p.Lys991Met)
c.7487A>T (p.Lys2496Met)
n.8946-3540A>T
5g.13780895T>CCA359212792DNAH5c.8885A>G (p.Lys2962Arg)
c.8840A>G (p.Lys2947Arg)
n.9028-3540A>G
c.8993A>G (p.Lys2998Arg)
c.7898A>G (p.Lys2633Arg)
c.4082A>G (p.Lys1361Arg)
c.3635A>G (p.Lys1212Arg)
c.2972A>G (p.Lys991Arg)
c.7487A>G (p.Lys2496Arg)
n.8946-3540A>G
5g.13780895T>GCA359212794DNAH5c.8885A>C (p.Lys2962Thr)
c.8840A>C (p.Lys2947Thr)
n.9028-3540A>C
c.8993A>C (p.Lys2998Thr)
c.7898A>C (p.Lys2633Thr)
c.4082A>C (p.Lys1361Thr)
c.3635A>C (p.Lys1212Thr)
c.2972A>C (p.Lys991Thr)
c.7487A>C (p.Lys2496Thr)
n.8946-3540A>C
5g.13780896T>ACA359212797DNAH5c.8884A>T (p.Lys2962Ter)
c.8839A>T (p.Lys2947Ter)
n.9028-3541A>T
c.8992A>T (p.Lys2998Ter)
c.7897A>T (p.Lys2633Ter)
c.4081A>T (p.Lys1361Ter)
c.3634A>T (p.Lys1212Ter)
c.2971A>T (p.Lys991Ter)
c.7486A>T (p.Lys2496Ter)
n.8946-3541A>T
5g.13780896T>CCA359212798DNAH5c.8884A>G (p.Lys2962Glu)
c.8839A>G (p.Lys2947Glu)
n.9028-3541A>G
c.8992A>G (p.Lys2998Glu)
c.7897A>G (p.Lys2633Glu)
c.4081A>G (p.Lys1361Glu)
c.3634A>G (p.Lys1212Glu)
c.2971A>G (p.Lys991Glu)
c.7486A>G (p.Lys2496Glu)
n.8946-3541A>G
 dbSNP
5g.13780896T>GCA359212800DNAH5c.8884A>C (p.Lys2962Gln)
c.8839A>C (p.Lys2947Gln)
n.9028-3541A>C
c.8992A>C (p.Lys2998Gln)
c.7897A>C (p.Lys2633Gln)
c.4081A>C (p.Lys1361Gln)
c.3634A>C (p.Lys1212Gln)
c.2971A>C (p.Lys991Gln)
c.7486A>C (p.Lys2496Gln)
n.8946-3541A>C
5g.13780896T=CA1528435871DNAH5c.8884A= (p.Lys2962=)
c.8839A= (p.Lys2947=)
n.9028-3541A=
c.8992A= (p.Lys2998=)
c.7897A= (p.Lys2633=)
c.4081A= (p.Lys1361=)
c.3634A= (p.Lys1212=)
c.2971A= (p.Lys991=)
c.7486A= (p.Lys2496=)
n.8946-3541A=
5g.13780897T>ACA443259272DNAH5c.8883A>T (p.Gly2961=)
c.8838A>T (p.Gly2946=)
n.9028-3542A>T
c.8991A>T (p.Gly2997=)
c.7896A>T (p.Gly2632=)
c.4080A>T (p.Gly1360=)
c.3633A>T (p.Gly1211=)
c.2970A>T (p.Gly990=)
c.7485A>T (p.Gly2495=)
n.8946-3542A>T
5g.13780897T>CCA443259273DNAH5c.8883A>G (p.Gly2961=)
c.8838A>G (p.Gly2946=)
n.9028-3542A>G
c.8991A>G (p.Gly2997=)
c.7896A>G (p.Gly2632=)
c.4080A>G (p.Gly1360=)
c.3633A>G (p.Gly1211=)
c.2970A>G (p.Gly990=)
c.7485A>G (p.Gly2495=)
n.8946-3542A>G
5g.13780897T>GCA443259275DNAH5c.8883A>C (p.Gly2961=)
c.8838A>C (p.Gly2946=)
n.9028-3542A>C
c.8991A>C (p.Gly2997=)
c.7896A>C (p.Gly2632=)
c.4080A>C (p.Gly1360=)
c.3633A>C (p.Gly1211=)
c.2970A>C (p.Gly990=)
c.7485A>C (p.Gly2495=)
n.8946-3542A>C
5g.13780898C>ACA359212802DNAH5c.8882G>T (p.Gly2961Val)
c.8837G>T (p.Gly2946Val)
n.9028-3543G>T
c.8990G>T (p.Gly2997Val)
c.7895G>T (p.Gly2632Val)
c.4079G>T (p.Gly1360Val)
c.3632G>T (p.Gly1211Val)
c.2969G>T (p.Gly990Val)
c.7484G>T (p.Gly2495Val)
n.8946-3543G>T
5g.13780898C>GCA359212805DNAH5c.8882G>C (p.Gly2961Ala)
c.8837G>C (p.Gly2946Ala)
n.9028-3543G>C
c.8990G>C (p.Gly2997Ala)
c.7895G>C (p.Gly2632Ala)
c.4079G>C (p.Gly1360Ala)
c.3632G>C (p.Gly1211Ala)
c.2969G>C (p.Gly990Ala)
c.7484G>C (p.Gly2495Ala)
n.8946-3543G>C
5g.13780898C>TCA359212804DNAH5c.8882G>A (p.Gly2961Glu)
c.8837G>A (p.Gly2946Glu)
n.9028-3543G>A
c.8990G>A (p.Gly2997Glu)
c.7895G>A (p.Gly2632Glu)
c.4079G>A (p.Gly1360Glu)
c.3632G>A (p.Gly1211Glu)
c.2969G>A (p.Gly990Glu)
c.7484G>A (p.Gly2495Glu)
n.8946-3543G>A
 COSMIC
5g.13780899C>ACA359212806DNAH5c.8881G>T (p.Gly2961Ter)
c.8836G>T (p.Gly2946Ter)
n.9028-3544G>T
c.8989G>T (p.Gly2997Ter)
c.7894G>T (p.Gly2632Ter)
c.4078G>T (p.Gly1360Ter)
c.3631G>T (p.Gly1211Ter)
c.2968G>T (p.Gly990Ter)
c.7483G>T (p.Gly2495Ter)
n.8946-3544G>T
5g.13780899C>GCA359212810DNAH5c.8881G>C (p.Gly2961Arg)
c.8836G>C (p.Gly2946Arg)
n.9028-3544G>C
c.8989G>C (p.Gly2997Arg)
c.7894G>C (p.Gly2632Arg)
c.4078G>C (p.Gly1360Arg)
c.3631G>C (p.Gly1211Arg)
c.2968G>C (p.Gly990Arg)
c.7483G>C (p.Gly2495Arg)
n.8946-3544G>C
5g.13780899C>TCA359212808DNAH5c.8881G>A (p.Gly2961Arg)
c.8836G>A (p.Gly2946Arg)
n.9028-3544G>A
c.8989G>A (p.Gly2997Arg)
c.7894G>A (p.Gly2632Arg)
c.4078G>A (p.Gly1360Arg)
c.3631G>A (p.Gly1211Arg)
c.2968G>A (p.Gly990Arg)
c.7483G>A (p.Gly2495Arg)
n.8946-3544G>A
 COSMIC
5g.13780900T>ACA443259291DNAH5c.8880A>T (p.Ser2960=)
c.8835A>T (p.Ser2945=)
n.9028-3545A>T
c.8988A>T (p.Ser2996=)
c.7893A>T (p.Ser2631=)
c.4077A>T (p.Ser1359=)
c.3630A>T (p.Ser1210=)
c.2967A>T (p.Ser989=)
c.7482A>T (p.Ser2494=)
n.8946-3545A>T
5g.13780900T>CCA443259292DNAH5c.8880A>G (p.Ser2960=)
c.8835A>G (p.Ser2945=)
n.9028-3545A>G
c.8988A>G (p.Ser2996=)
c.7893A>G (p.Ser2631=)
c.4077A>G (p.Ser1359=)
c.3630A>G (p.Ser1210=)
c.2967A>G (p.Ser989=)
c.7482A>G (p.Ser2494=)
n.8946-3545A>G
5g.13780900T>GCA443259294DNAH5c.8880A>C (p.Ser2960=)
c.8835A>C (p.Ser2945=)
n.9028-3545A>C
c.8988A>C (p.Ser2996=)
c.7893A>C (p.Ser2631=)
c.4077A>C (p.Ser1359=)
c.3630A>C (p.Ser1210=)
c.2967A>C (p.Ser989=)
c.7482A>C (p.Ser2494=)
n.8946-3545A>C
 ClinVar dbSNP gnomAD v4
5g.13780900T=CA1528435872DNAH5c.8880A= (p.Ser2960=)
c.8835A= (p.Ser2945=)
n.9028-3545A=
c.8988A= (p.Ser2996=)
c.7893A= (p.Ser2631=)
c.4077A= (p.Ser1359=)
c.3630A= (p.Ser1210=)
c.2967A= (p.Ser989=)
c.7482A= (p.Ser2494=)
n.8946-3545A=
5g.13780901G>ACA359212812DNAH5c.8879C>T (p.Ser2960Leu)
c.8834C>T (p.Ser2945Leu)
n.9028-3546C>T
c.8987C>T (p.Ser2996Leu)
c.7892C>T (p.Ser2631Leu)
c.4076C>T (p.Ser1359Leu)
c.3629C>T (p.Ser1210Leu)
c.2966C>T (p.Ser989Leu)
c.7481C>T (p.Ser2494Leu)
n.8946-3546C>T
5g.13780901G>CCA359212813DNAH5c.8879C>G (p.Ser2960Ter)
c.8834C>G (p.Ser2945Ter)
n.9028-3546C>G
c.8987C>G (p.Ser2996Ter)
c.7892C>G (p.Ser2631Ter)
c.4076C>G (p.Ser1359Ter)
c.3629C>G (p.Ser1210Ter)
c.2966C>G (p.Ser989Ter)
c.7481C>G (p.Ser2494Ter)
n.8946-3546C>G
5g.13780901G>TCA359212814DNAH5c.8879C>A (p.Ser2960Ter)
c.8834C>A (p.Ser2945Ter)
n.9028-3546C>A
c.8987C>A (p.Ser2996Ter)
c.7892C>A (p.Ser2631Ter)
c.4076C>A (p.Ser1359Ter)
c.3629C>A (p.Ser1210Ter)
c.2966C>A (p.Ser989Ter)
c.7481C>A (p.Ser2494Ter)
n.8946-3546C>A
5g.13780902A>CCA359212816DNAH5c.8878T>G (p.Ser2960Ala)
c.8833T>G (p.Ser2945Ala)
n.9028-3547T>G
c.8986T>G (p.Ser2996Ala)
c.7891T>G (p.Ser2631Ala)
c.4075T>G (p.Ser1359Ala)
c.3628T>G (p.Ser1210Ala)
c.2965T>G (p.Ser989Ala)
c.7480T>G (p.Ser2494Ala)
n.8946-3547T>G
5g.13780902A>GCA359212818DNAH5c.8878T>C (p.Ser2960Pro)
c.8833T>C (p.Ser2945Pro)
n.9028-3547T>C
c.8986T>C (p.Ser2996Pro)
c.7891T>C (p.Ser2631Pro)
c.4075T>C (p.Ser1359Pro)
c.3628T>C (p.Ser1210Pro)
c.2965T>C (p.Ser989Pro)
c.7480T>C (p.Ser2494Pro)
n.8946-3547T>C
 gnomAD v4
5g.13780902A>TCA359212820DNAH5c.8878T>A (p.Ser2960Thr)
c.8833T>A (p.Ser2945Thr)
n.9028-3547T>A
c.8986T>A (p.Ser2996Thr)
c.7891T>A (p.Ser2631Thr)
c.4075T>A (p.Ser1359Thr)
c.3628T>A (p.Ser1210Thr)
c.2965T>A (p.Ser989Thr)
c.7480T>A (p.Ser2494Thr)
n.8946-3547T>A
5g.13780903T>ACA443259304DNAH5c.8877A>T (p.Gly2959=)
c.8832A>T (p.Gly2944=)
n.9028-3548A>T
c.8985A>T (p.Gly2995=)
c.7890A>T (p.Gly2630=)
c.4074A>T (p.Gly1358=)
c.3627A>T (p.Gly1209=)
c.2964A>T (p.Gly988=)
c.7479A>T (p.Gly2493=)
n.8946-3548A>T
5g.13780903T>CCA443259305DNAH5c.8877A>G (p.Gly2959=)
c.8832A>G (p.Gly2944=)
n.9028-3548A>G
c.8985A>G (p.Gly2995=)
c.7890A>G (p.Gly2630=)
c.4074A>G (p.Gly1358=)
c.3627A>G (p.Gly1209=)
c.2964A>G (p.Gly988=)
c.7479A>G (p.Gly2493=)
n.8946-3548A>G
 gnomAD v4
5g.13780903T>GCA443259307DNAH5c.8877A>C (p.Gly2959=)
c.8832A>C (p.Gly2944=)
n.9028-3548A>C
c.8985A>C (p.Gly2995=)
c.7890A>C (p.Gly2630=)
c.4074A>C (p.Gly1358=)
c.3627A>C (p.Gly1209=)
c.2964A>C (p.Gly988=)
c.7479A>C (p.Gly2493=)
n.8946-3548A>C
5g.13780904C>ACA359212822DNAH5c.8876G>T (p.Gly2959Val)
c.8831G>T (p.Gly2944Val)
n.9028-3549G>T
c.8984G>T (p.Gly2995Val)
c.7889G>T (p.Gly2630Val)
c.4073G>T (p.Gly1358Val)
c.3626G>T (p.Gly1209Val)
c.2963G>T (p.Gly988Val)
c.7478G>T (p.Gly2493Val)
n.8946-3549G>T
5g.13780904C=CA1528435873DNAH5c.8876G= (p.Gly2959=)
c.8831G= (p.Gly2944=)
n.9028-3549G=
c.8984G= (p.Gly2995=)
c.7889G= (p.Gly2630=)
c.4073G= (p.Gly1358=)
c.3626G= (p.Gly1209=)
c.2963G= (p.Gly988=)
c.7478G= (p.Gly2493=)
n.8946-3549G=
5g.13780904C>GCA359212823DNAH5c.8876G>C (p.Gly2959Ala)
c.8831G>C (p.Gly2944Ala)
n.9028-3549G>C
c.8984G>C (p.Gly2995Ala)
c.7889G>C (p.Gly2630Ala)
c.4073G>C (p.Gly1358Ala)
c.3626G>C (p.Gly1209Ala)
c.2963G>C (p.Gly988Ala)
c.7478G>C (p.Gly2493Ala)
n.8946-3549G>C
 dbSNP gnomAD v3 gnomAD v4
5g.13780904C>TCA359212825DNAH5c.8876G>A (p.Gly2959Glu)
c.8831G>A (p.Gly2944Glu)
n.9028-3549G>A
c.8984G>A (p.Gly2995Glu)
c.7889G>A (p.Gly2630Glu)
c.4073G>A (p.Gly1358Glu)
c.3626G>A (p.Gly1209Glu)
c.2963G>A (p.Gly988Glu)
c.7478G>A (p.Gly2493Glu)
n.8946-3549G>A
 gnomAD v4
5g.13780905C>ACA359212827DNAH5c.8875G>T (p.Gly2959Ter)
c.8830G>T (p.Gly2944Ter)
n.9028-3550G>T
c.8983G>T (p.Gly2995Ter)
c.7888G>T (p.Gly2630Ter)
c.4072G>T (p.Gly1358Ter)
c.3625G>T (p.Gly1209Ter)
c.2962G>T (p.Gly988Ter)
c.7477G>T (p.Gly2493Ter)
n.8946-3550G>T
 ClinVar
5g.13780905C=CA1528435874DNAH5c.8875G= (p.Gly2959=)
c.8830G= (p.Gly2944=)
n.9028-3550G=
c.8983G= (p.Gly2995=)
c.7888G= (p.Gly2630=)
c.4072G= (p.Gly1358=)
c.3625G= (p.Gly1209=)
c.2962G= (p.Gly988=)
c.7477G= (p.Gly2493=)
n.8946-3550G=
5g.13780905C>GCA359212829DNAH5c.8875G>C (p.Gly2959Arg)
c.8830G>C (p.Gly2944Arg)
n.9028-3550G>C
c.8983G>C (p.Gly2995Arg)
c.7888G>C (p.Gly2630Arg)
c.4072G>C (p.Gly1358Arg)
c.3625G>C (p.Gly1209Arg)
c.2962G>C (p.Gly988Arg)
c.7477G>C (p.Gly2493Arg)
n.8946-3550G>C
5g.13780905C>TCA3202680DNAH5c.8875G>A (p.Gly2959Arg)
c.8830G>A (p.Gly2944Arg)
n.9028-3550G>A
c.8983G>A (p.Gly2995Arg)
c.7888G>A (p.Gly2630Arg)
c.4072G>A (p.Gly1358Arg)
c.3625G>A (p.Gly1209Arg)
c.2962G>A (p.Gly988Arg)
c.7477G>A (p.Gly2493Arg)
n.8946-3550G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13780906G>ACA3202681DNAH5c.8874C>T (p.Gly2958=)
c.8829C>T (p.Gly2943=)
n.9028-3551C>T
c.8982C>T (p.Gly2994=)
c.7887C>T (p.Gly2629=)
c.4071C>T (p.Gly1357=)
c.3624C>T (p.Gly1208=)
c.2961C>T (p.Gly987=)
c.7476C>T (p.Gly2492=)
n.8946-3551C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13780906G>CCA443259320DNAH5c.8874C>G (p.Gly2958=)
c.8829C>G (p.Gly2943=)
n.9028-3551C>G
c.8982C>G (p.Gly2994=)
c.7887C>G (p.Gly2629=)
c.4071C>G (p.Gly1357=)
c.3624C>G (p.Gly1208=)
c.2961C>G (p.Gly987=)
c.7476C>G (p.Gly2492=)
n.8946-3551C>G
5g.13780906G=CA1528435875DNAH5c.8874C= (p.Gly2958=)
c.8829C= (p.Gly2943=)
n.9028-3551C=
c.8982C= (p.Gly2994=)
c.7887C= (p.Gly2629=)
c.4071C= (p.Gly1357=)
c.3624C= (p.Gly1208=)
c.2961C= (p.Gly987=)
c.7476C= (p.Gly2492=)
n.8946-3551C=
5g.13780906G>TCA443259322DNAH5c.8874C>A (p.Gly2958=)
c.8829C>A (p.Gly2943=)
n.9028-3551C>A
c.8982C>A (p.Gly2994=)
c.7887C>A (p.Gly2629=)
c.4071C>A (p.Gly1357=)
c.3624C>A (p.Gly1208=)
c.2961C>A (p.Gly987=)
c.7476C>A (p.Gly2492=)
n.8946-3551C>A
 dbSNP gnomAD v2
5g.13780907C>ACA359212832DNAH5c.8873G>T (p.Gly2958Val)
c.8828G>T (p.Gly2943Val)
n.9028-3552G>T
c.8981G>T (p.Gly2994Val)
c.7886G>T (p.Gly2629Val)
c.4070G>T (p.Gly1357Val)
c.3623G>T (p.Gly1208Val)
c.2960G>T (p.Gly987Val)
c.7475G>T (p.Gly2492Val)
n.8946-3552G>T
5g.13780907C>GCA359212834DNAH5c.8873G>C (p.Gly2958Ala)
c.8828G>C (p.Gly2943Ala)
n.9028-3552G>C
c.8981G>C (p.Gly2994Ala)
c.7886G>C (p.Gly2629Ala)
c.4070G>C (p.Gly1357Ala)
c.3623G>C (p.Gly1208Ala)
c.2960G>C (p.Gly987Ala)
c.7475G>C (p.Gly2492Ala)
n.8946-3552G>C
5g.13780907C>TCA359212835DNAH5c.8873G>A (p.Gly2958Asp)
c.8828G>A (p.Gly2943Asp)
n.9028-3552G>A
c.8981G>A (p.Gly2994Asp)
c.7886G>A (p.Gly2629Asp)
c.4070G>A (p.Gly1357Asp)
c.3623G>A (p.Gly1208Asp)
c.2960G>A (p.Gly987Asp)
c.7475G>A (p.Gly2492Asp)
n.8946-3552G>A
5g.13780908C>ACA359212837DNAH5c.8872G>T (p.Gly2958Cys)
c.8827G>T (p.Gly2943Cys)
n.9028-3553G>T
c.8980G>T (p.Gly2994Cys)
c.7885G>T (p.Gly2629Cys)
c.4069G>T (p.Gly1357Cys)
c.3622G>T (p.Gly1208Cys)
c.2959G>T (p.Gly987Cys)
c.7474G>T (p.Gly2492Cys)
n.8946-3553G>T
5g.13780908C>GCA359212838DNAH5c.8872G>C (p.Gly2958Arg)
c.8827G>C (p.Gly2943Arg)
n.9028-3553G>C
c.8980G>C (p.Gly2994Arg)
c.7885G>C (p.Gly2629Arg)
c.4069G>C (p.Gly1357Arg)
c.3622G>C (p.Gly1208Arg)
c.2959G>C (p.Gly987Arg)
c.7474G>C (p.Gly2492Arg)
n.8946-3553G>C
5g.13780908C>TCA359212840DNAH5c.8872G>A (p.Gly2958Ser)
c.8827G>A (p.Gly2943Ser)
n.9028-3553G>A
c.8980G>A (p.Gly2994Ser)
c.7885G>A (p.Gly2629Ser)
c.4069G>A (p.Gly1357Ser)
c.3622G>A (p.Gly1208Ser)
c.2959G>A (p.Gly987Ser)
c.7474G>A (p.Gly2492Ser)
n.8946-3553G>A
5g.13780909C>ACA3202682DNAH5c.8871G>T (p.Val2957=)
c.8826G>T (p.Val2942=)
n.9028-3554G>T
c.8979G>T (p.Val2993=)
c.7884G>T (p.Val2628=)
c.4068G>T (p.Val1356=)
c.3621G>T (p.Val1207=)
c.2958G>T (p.Val986=)
c.7473G>T (p.Val2491=)
n.8946-3554G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13780909C=CA1528435876DNAH5c.8871G= (p.Val2957=)
c.8826G= (p.Val2942=)
n.9028-3554G=
c.8979G= (p.Val2993=)
c.7884G= (p.Val2628=)
c.4068G= (p.Val1356=)
c.3621G= (p.Val1207=)
c.2958G= (p.Val986=)
c.7473G= (p.Val2491=)
n.8946-3554G=
5g.13780909C>GCA443259328DNAH5c.8871G>C (p.Val2957=)
c.8826G>C (p.Val2942=)
n.9028-3554G>C
c.8979G>C (p.Val2993=)
c.7884G>C (p.Val2628=)
c.4068G>C (p.Val1356=)
c.3621G>C (p.Val1207=)
c.2958G>C (p.Val986=)
c.7473G>C (p.Val2491=)
n.8946-3554G>C
 dbSNP
5g.13780909C>TCA443259330DNAH5c.8871G>A (p.Val2957=)
c.8826G>A (p.Val2942=)
n.9028-3554G>A
c.8979G>A (p.Val2993=)
c.7884G>A (p.Val2628=)
c.4068G>A (p.Val1356=)
c.3621G>A (p.Val1207=)
c.2958G>A (p.Val986=)
c.7473G>A (p.Val2491=)
n.8946-3554G>A
5g.13780910A>CCA359212843DNAH5c.8870T>G (p.Val2957Gly)
c.8825T>G (p.Val2942Gly)
n.9028-3555T>G
c.8978T>G (p.Val2993Gly)
c.7883T>G (p.Val2628Gly)
c.4067T>G (p.Val1356Gly)
c.3620T>G (p.Val1207Gly)
c.2957T>G (p.Val986Gly)
c.7472T>G (p.Val2491Gly)
n.8946-3555T>G
5g.13780910A>GCA359212844DNAH5c.8870T>C (p.Val2957Ala)
c.8825T>C (p.Val2942Ala)
n.9028-3555T>C
c.8978T>C (p.Val2993Ala)
c.7883T>C (p.Val2628Ala)
c.4067T>C (p.Val1356Ala)
c.3620T>C (p.Val1207Ala)
c.2957T>C (p.Val986Ala)
c.7472T>C (p.Val2491Ala)
n.8946-3555T>C
 gnomAD v4
5g.13780910A>TCA359212846DNAH5c.8870T>A (p.Val2957Glu)
c.8825T>A (p.Val2942Glu)
n.9028-3555T>A
c.8978T>A (p.Val2993Glu)
c.7883T>A (p.Val2628Glu)
c.4067T>A (p.Val1356Glu)
c.3620T>A (p.Val1207Glu)
c.2957T>A (p.Val986Glu)
c.7472T>A (p.Val2491Glu)
n.8946-3555T>A
5g.13780910_13780911delinsACCA1528435877DNAH5c.8869_8870delinsGT (p.Val2957=)
c.8824_8825delinsGT (p.Val2942=)
n.9028-3556_9028-3555delinsGT
c.8977_8978delinsGT (p.Val2993=)
c.7882_7883delinsGT (p.Val2628=)
c.4066_4067delinsGT (p.Val1356=)
c.3619_3620delinsGT (p.Val1207=)
c.2956_2957delinsGT (p.Val986=)
c.7471_7472delinsGT (p.Val2491=)
n.8946-3556_8946-3555delinsGT
5g.13780911C>ACA359212847DNAH5c.8869G>T (p.Val2957Leu)
c.8824G>T (p.Val2942Leu)
n.9028-3556G>T
c.8977G>T (p.Val2993Leu)
c.7882G>T (p.Val2628Leu)
c.4066G>T (p.Val1356Leu)
c.3619G>T (p.Val1207Leu)
c.2956G>T (p.Val986Leu)
c.7471G>T (p.Val2491Leu)
n.8946-3556G>T
5g.13780911C>GCA359212849DNAH5c.8869G>C (p.Val2957Leu)
c.8824G>C (p.Val2942Leu)
n.9028-3556G>C
c.8977G>C (p.Val2993Leu)
c.7882G>C (p.Val2628Leu)
c.4066G>C (p.Val1356Leu)
c.3619G>C (p.Val1207Leu)
c.2956G>C (p.Val986Leu)
c.7471G>C (p.Val2491Leu)
n.8946-3556G>C
5g.13780911C>TCA359212851DNAH5c.8869G>A (p.Val2957Met)
c.8824G>A (p.Val2942Met)
n.9028-3556G>A
c.8977G>A (p.Val2993Met)
c.7882G>A (p.Val2628Met)
c.4066G>A (p.Val1356Met)
c.3619G>A (p.Val1207Met)
c.2956G>A (p.Val986Met)
c.7471G>A (p.Val2491Met)
n.8946-3556G>A
 gnomAD v3 gnomAD v4
5g.13780914delCA915943336DNAH5c.8869del (p.Val2957TrpfsTer9)
c.8824del (p.Val2942TrpfsTer9)
n.9028-3556del
c.8977del (p.Val2993TrpfsTer9)
c.7882del (p.Val2628TrpfsTer9)
c.4066del (p.Val1356TrpfsTer9)
c.3619del (p.Val1207TrpfsTer9)
c.2956del (p.Val986TrpfsTer9)
c.7471del (p.Val2491TrpfsTer9)
n.8946-3556del
 ClinVar dbSNP gnomAD v4
5g.13780912_13780989delCA2697547085DNAH5c.8821-29_8869del
c.8776-29_8824del
n.9028-3633_9028-3556del
c.8929-29_8977del
c.7834-29_7882del
c.4018-29_4066del
c.3571-29_3619del
c.2908-29_2956del
c.7423-29_7471del
n.8946-3633_8946-3556del
 ClinVar
5g.13780911_13781882delinsCCCCGACCAGGAGGGCATTTCCCTGAGGAGTACGAATGACACGAGAGATCTGTAATATGGAACAGAAAAAGTATGTATCTTTCAACATGTAAATGTTCTATTTTTCCTATTTATTCAATATATGAATAAGGCCTAATTATTATTTTGGAAGATATAGGTGTCTCAAGATCAGACTGGAGACACACTGGTTGAAGGAATGAGGGCATTTCTGAAATAGAACAGTGTTGGGCTGCATCAGACGGGGTGGGAACCGTGGGGTGTGCCTTTAGGAAGTAGGAGGACACCAGGGCAGAAAAGTCAACACACAGCCGAGACCGTGCTTGCTCTGGCTTTTAAAGGAGATATCTATCTAAAGGGGACTTTGAGGATTCCTGTTAGTTGGTCTGACCTAATAGTGTATGACAGGAAGGAGAACAGAAATGTCAGAACAATGTCTACCCTTGGCATACAGGGCATCGTCGTTGATGAGAATATCCTCCACATTTGAAAAGTGTTCAAATTTAAATTGAAGGGAAGAAAAACCCCCAAAATGAGGTGATATGGTTTGGCTGTGTCTCAACTCAAATCTGATCTTGAATTGTACTCCCATAATTCCCACATGTTGTGGTGGGGACCTGGTGGGAGATAATTGAATCAAGGTGGCGGCTTCCCCACAGTGTTCCTGTGGTAGTGACTAAGTCTCATGAGATCTGATGGTTTTATCAGGGGTTTTCGCTTTTGCATCTTCCTCATTTTTTGTCTTGCCGCCGCCATGTAAGAAGTGCCTTTCGCCTCCCACCGTGATTCTGAGGCCTCTTCAGCCATGTGGAACTATAAGTCCAATTAAACCTTTTCCTTCCCAGTCTTGGGTATGTCTTTATCAGCAGCATGAAAACGAACTAATACATATGGTATAGATGTTGGAATTTTAAAAAGAAAGAAAATGAGCATAAACACCCTCCTATTACTTGGCAAAGACAGTGATACCTAAGGCA1528435878DNAH5c.8821-923_8869delinsCCTTAGGTATCACTGTCTTTGCCAAGTAATAGGAGGGTGTTTATGCTCATTTTCTTTCTTTTTAAAATTCCAACATCTATACCATATGTATTAGTTCGTTTTCATGCTGCTGATAAAGACATACCCAAGACTGGGAAGGAAAAGGTTTAATTGGACTTATAGTTCCACATGGCTGAAGAGGCCTCAGAATCACGGTGGGAGGCGAAAGGCACTTCTTACATGGCGGCGGCAAGACAAAAAATGAGGAAGATGCAAAAGCGAAAACCCCTGATAAAACCATCAGATCTCATGAGACTTAGTCACTACCACAGGAACACTGTGGGGAAGCCGCCACCTTGATTCAATTATCTCCCACCAGGTCCCCACCACAACATGTGGGAATTATGGGAGTACAATTCAAGATCAGATTTGAGTTGAGACACAGCCAAACCATATCACCTCATTTTGGGGGTTTTTCTTCCCTTCAATTTAAATTTGAACACTTTTCAAATGTGGAGGATATTCTCATCAACGACGATGCCCTGTATGCCAAGGGTAGACATTGTTCTGACATTTCTGTTCTCCTTCCTGTCATACACTATTAGGTCAGACCAACTAACAGGAATCCTCAAAGTCCCCTTTAGATAGATATCTCCTTTAAAAGCCAGAGCAAGCACGGTCTCGGCTGTGTGTTGACTTTTCTGCCCTGGTGTCCTCCTACTTCCTAAAGGCACACCCCACGGTTCCCACCCCGTCTGATGCAGCCCAACACTGTTCTATTTCAGAAATGCCCTCATTCCTTCAACCAGTGTGTCTCCAGTCTGATCTTGAGACACCTATATCTTCCAAAATAATAATTAGGCCTTATTCATATATTGAATAAATAGGAAAAATAGAACATTTACATGTTGAAAGATACATACTTTTTCTGTTCCATATTACAGATCTCTCGTGTCATTCGTACTCCTCAGGGAAATGCCCTCCTGGTCGGGG
c.8776-923_8824delinsCCTTAGGTATCACTGTCTTTGCCAAGTAATAGGAGGGTGTTTATGCTCATTTTCTTTCTTTTTAAAATTCCAACATCTATACCATATGTATTAGTTCGTTTTCATGCTGCTGATAAAGACATACCCAAGACTGGGAAGGAAAAGGTTTAATTGGACTTATAGTTCCACATGGCTGAAGAGGCCTCAGAATCACGGTGGGAGGCGAAAGGCACTTCTTACATGGCGGCGGCAAGACAAAAAATGAGGAAGATGCAAAAGCGAAAACCCCTGATAAAACCATCAGATCTCATGAGACTTAGTCACTACCACAGGAACACTGTGGGGAAGCCGCCACCTTGATTCAATTATCTCCCACCAGGTCCCCACCACAACATGTGGGAATTATGGGAGTACAATTCAAGATCAGATTTGAGTTGAGACACAGCCAAACCATATCACCTCATTTTGGGGGTTTTTCTTCCCTTCAATTTAAATTTGAACACTTTTCAAATGTGGAGGATATTCTCATCAACGACGATGCCCTGTATGCCAAGGGTAGACATTGTTCTGACATTTCTGTTCTCCTTCCTGTCATACACTATTAGGTCAGACCAACTAACAGGAATCCTCAAAGTCCCCTTTAGATAGATATCTCCTTTAAAAGCCAGAGCAAGCACGGTCTCGGCTGTGTGTTGACTTTTCTGCCCTGGTGTCCTCCTACTTCCTAAAGGCACACCCCACGGTTCCCACCCCGTCTGATGCAGCCCAACACTGTTCTATTTCAGAAATGCCCTCATTCCTTCAACCAGTGTGTCTCCAGTCTGATCTTGAGACACCTATATCTTCCAAAATAATAATTAGGCCTTATTCATATATTGAATAAATAGGAAAAATAGAACATTTACATGTTGAAAGATACATACTTTTTCTGTTCCATATTACAGATCTCTCGTGTCATTCGTACTCCTCAGGGAAATGCCCTCCTGGTCGGGG
n.9027+4297_9028-3556delinsCCTTAGGTATCACTGTCTTTGCCAAGTAATAGGAGGGTGTTTATGCTCATTTTCTTTCTTTTTAAAATTCCAACATCTATACCATATGTATTAGTTCGTTTTCATGCTGCTGATAAAGACATACCCAAGACTGGGAAGGAAAAGGTTTAATTGGACTTATAGTTCCACATGGCTGAAGAGGCCTCAGAATCACGGTGGGAGGCGAAAGGCACTTCTTACATGGCGGCGGCAAGACAAAAAATGAGGAAGATGCAAAAGCGAAAACCCCTGATAAAACCATCAGATCTCATGAGACTTAGTCACTACCACAGGAACACTGTGGGGAAGCCGCCACCTTGATTCAATTATCTCCCACCAGGTCCCCACCACAACATGTGGGAATTATGGGAGTACAATTCAAGATCAGATTTGAGTTGAGACACAGCCAAACCATATCACCTCATTTTGGGGGTTTTTCTTCCCTTCAATTTAAATTTGAACACTTTTCAAATGTGGAGGATATTCTCATCAACGACGATGCCCTGTATGCCAAGGGTAGACATTGTTCTGACATTTCTGTTCTCCTTCCTGTCATACACTATTAGGTCAGACCAACTAACAGGAATCCTCAAAGTCCCCTTTAGATAGATATCTCCTTTAAAAGCCAGAGCAAGCACGGTCTCGGCTGTGTGTTGACTTTTCTGCCCTGGTGTCCTCCTACTTCCTAAAGGCACACCCCACGGTTCCCACCCCGTCTGATGCAGCCCAACACTGTTCTATTTCAGAAATGCCCTCATTCCTTCAACCAGTGTGTCTCCAGTCTGATCTTGAGACACCTATATCTTCCAAAATAATAATTAGGCCTTATTCATATATTGAATAAATAGGAAAAATAGAACATTTACATGTTGAAAGATACATACTTTTTCTGTTCCATATTACAGATCTCTCGTGTCATTCGTACTCCTCAGGGAAATGCCCTCCTGGTCGGGG
c.8929-923_8977delinsCCTTAGGTATCACTGTCTTTGCCAAGTAATAGGAGGGTGTTTATGCTCATTTTCTTTCTTTTTAAAATTCCAACATCTATACCATATGTATTAGTTCGTTTTCATGCTGCTGATAAAGACATACCCAAGACTGGGAAGGAAAAGGTTTAATTGGACTTATAGTTCCACATGGCTGAAGAGGCCTCAGAATCACGGTGGGAGGCGAAAGGCACTTCTTACATGGCGGCGGCAAGACAAAAAATGAGGAAGATGCAAAAGCGAAAACCCCTGATAAAACCATCAGATCTCATGAGACTTAGTCACTACCACAGGAACACTGTGGGGAAGCCGCCACCTTGATTCAATTATCTCCCACCAGGTCCCCACCACAACATGTGGGAATTATGGGAGTACAATTCAAGATCAGATTTGAGTTGAGACACAGCCAAACCATATCACCTCATTTTGGGGGTTTTTCTTCCCTTCAATTTAAATTTGAACACTTTTCAAATGTGGAGGATATTCTCATCAACGACGATGCCCTGTATGCCAAGGGTAGACATTGTTCTGACATTTCTGTTCTCCTTCCTGTCATACACTATTAGGTCAGACCAACTAACAGGAATCCTCAAAGTCCCCTTTAGATAGATATCTCCTTTAAAAGCCAGAGCAAGCACGGTCTCGGCTGTGTGTTGACTTTTCTGCCCTGGTGTCCTCCTACTTCCTAAAGGCACACCCCACGGTTCCCACCCCGTCTGATGCAGCCCAACACTGTTCTATTTCAGAAATGCCCTCATTCCTTCAACCAGTGTGTCTCCAGTCTGATCTTGAGACACCTATATCTTCCAAAATAATAATTAGGCCTTATTCATATATTGAATAAATAGGAAAAATAGAACATTTACATGTTGAAAGATACATACTTTTTCTGTTCCATATTACAGATCTCTCGTGTCATTCGTACTCCTCAGGGAAATGCCCTCCTGGTCGGGG
c.7834-923_7882delinsCCTTAGGTATCACTGTCTTTGCCAAGTAATAGGAGGGTGTTTATGCTCATTTTCTTTCTTTTTAAAATTCCAACATCTATACCATATGTATTAGTTCGTTTTCATGCTGCTGATAAAGACATACCCAAGACTGGGAAGGAAAAGGTTTAATTGGACTTATAGTTCCACATGGCTGAAGAGGCCTCAGAATCACGGTGGGAGGCGAAAGGCACTTCTTACATGGCGGCGGCAAGACAAAAAATGAGGAAGATGCAAAAGCGAAAACCCCTGATAAAACCATCAGATCTCATGAGACTTAGTCACTACCACAGGAACACTGTGGGGAAGCCGCCACCTTGATTCAATTATCTCCCACCAGGTCCCCACCACAACATGTGGGAATTATGGGAGTACAATTCAAGATCAGATTTGAGTTGAGACACAGCCAAACCATATCACCTCATTTTGGGGGTTTTTCTTCCCTTCAATTTAAATTTGAACACTTTTCAAATGTGGAGGATATTCTCATCAACGACGATGCCCTGTATGCCAAGGGTAGACATTGTTCTGACATTTCTGTTCTCCTTCCTGTCATACACTATTAGGTCAGACCAACTAACAGGAATCCTCAAAGTCCCCTTTAGATAGATATCTCCTTTAAAAGCCAGAGCAAGCACGGTCTCGGCTGTGTGTTGACTTTTCTGCCCTGGTGTCCTCCTACTTCCTAAAGGCACACCCCACGGTTCCCACCCCGTCTGATGCAGCCCAACACTGTTCTATTTCAGAAATGCCCTCATTCCTTCAACCAGTGTGTCTCCAGTCTGATCTTGAGACACCTATATCTTCCAAAATAATAATTAGGCCTTATTCATATATTGAATAAATAGGAAAAATAGAACATTTACATGTTGAAAGATACATACTTTTTCTGTTCCATATTACAGATCTCTCGTGTCATTCGTACTCCTCAGGGAAATGCCCTCCTGGTCGGGG
c.4018-923_4066delinsCCTTAGGTATCACTGTCTTTGCCAAGTAATAGGAGGGTGTTTATGCTCATTTTCTTTCTTTTTAAAATTCCAACATCTATACCATATGTATTAGTTCGTTTTCATGCTGCTGATAAAGACATACCCAAGACTGGGAAGGAAAAGGTTTAATTGGACTTATAGTTCCACATGGCTGAAGAGGCCTCAGAATCACGGTGGGAGGCGAAAGGCACTTCTTACATGGCGGCGGCAAGACAAAAAATGAGGAAGATGCAAAAGCGAAAACCCCTGATAAAACCATCAGATCTCATGAGACTTAGTCACTACCACAGGAACACTGTGGGGAAGCCGCCACCTTGATTCAATTATCTCCCACCAGGTCCCCACCACAACATGTGGGAATTATGGGAGTACAATTCAAGATCAGATTTGAGTTGAGACACAGCCAAACCATATCACCTCATTTTGGGGGTTTTTCTTCCCTTCAATTTAAATTTGAACACTTTTCAAATGTGGAGGATATTCTCATCAACGACGATGCCCTGTATGCCAAGGGTAGACATTGTTCTGACATTTCTGTTCTCCTTCCTGTCATACACTATTAGGTCAGACCAACTAACAGGAATCCTCAAAGTCCCCTTTAGATAGATATCTCCTTTAAAAGCCAGAGCAAGCACGGTCTCGGCTGTGTGTTGACTTTTCTGCCCTGGTGTCCTCCTACTTCCTAAAGGCACACCCCACGGTTCCCACCCCGTCTGATGCAGCCCAACACTGTTCTATTTCAGAAATGCCCTCATTCCTTCAACCAGTGTGTCTCCAGTCTGATCTTGAGACACCTATATCTTCCAAAATAATAATTAGGCCTTATTCATATATTGAATAAATAGGAAAAATAGAACATTTACATGTTGAAAGATACATACTTTTTCTGTTCCATATTACAGATCTCTCGTGTCATTCGTACTCCTCAGGGAAATGCCCTCCTGGTCGGGG
c.3571-923_3619delinsCCTTAGGTATCACTGTCTTTGCCAAGTAATAGGAGGGTGTTTATGCTCATTTTCTTTCTTTTTAAAATTCCAACATCTATACCATATGTATTAGTTCGTTTTCATGCTGCTGATAAAGACATACCCAAGACTGGGAAGGAAAAGGTTTAATTGGACTTATAGTTCCACATGGCTGAAGAGGCCTCAGAATCACGGTGGGAGGCGAAAGGCACTTCTTACATGGCGGCGGCAAGACAAAAAATGAGGAAGATGCAAAAGCGAAAACCCCTGATAAAACCATCAGATCTCATGAGACTTAGTCACTACCACAGGAACACTGTGGGGAAGCCGCCACCTTGATTCAATTATCTCCCACCAGGTCCCCACCACAACATGTGGGAATTATGGGAGTACAATTCAAGATCAGATTTGAGTTGAGACACAGCCAAACCATATCACCTCATTTTGGGGGTTTTTCTTCCCTTCAATTTAAATTTGAACACTTTTCAAATGTGGAGGATATTCTCATCAACGACGATGCCCTGTATGCCAAGGGTAGACATTGTTCTGACATTTCTGTTCTCCTTCCTGTCATACACTATTAGGTCAGACCAACTAACAGGAATCCTCAAAGTCCCCTTTAGATAGATATCTCCTTTAAAAGCCAGAGCAAGCACGGTCTCGGCTGTGTGTTGACTTTTCTGCCCTGGTGTCCTCCTACTTCCTAAAGGCACACCCCACGGTTCCCACCCCGTCTGATGCAGCCCAACACTGTTCTATTTCAGAAATGCCCTCATTCCTTCAACCAGTGTGTCTCCAGTCTGATCTTGAGACACCTATATCTTCCAAAATAATAATTAGGCCTTATTCATATATTGAATAAATAGGAAAAATAGAACATTTACATGTTGAAAGATACATACTTTTTCTGTTCCATATTACAGATCTCTCGTGTCATTCGTACTCCTCAGGGAAATGCCCTCCTGGTCGGGG
c.2908-923_2956delinsCCTTAGGTATCACTGTCTTTGCCAAGTAATAGGAGGGTGTTTATGCTCATTTTCTTTCTTTTTAAAATTCCAACATCTATACCATATGTATTAGTTCGTTTTCATGCTGCTGATAAAGACATACCCAAGACTGGGAAGGAAAAGGTTTAATTGGACTTATAGTTCCACATGGCTGAAGAGGCCTCAGAATCACGGTGGGAGGCGAAAGGCACTTCTTACATGGCGGCGGCAAGACAAAAAATGAGGAAGATGCAAAAGCGAAAACCCCTGATAAAACCATCAGATCTCATGAGACTTAGTCACTACCACAGGAACACTGTGGGGAAGCCGCCACCTTGATTCAATTATCTCCCACCAGGTCCCCACCACAACATGTGGGAATTATGGGAGTACAATTCAAGATCAGATTTGAGTTGAGACACAGCCAAACCATATCACCTCATTTTGGGGGTTTTTCTTCCCTTCAATTTAAATTTGAACACTTTTCAAATGTGGAGGATATTCTCATCAACGACGATGCCCTGTATGCCAAGGGTAGACATTGTTCTGACATTTCTGTTCTCCTTCCTGTCATACACTATTAGGTCAGACCAACTAACAGGAATCCTCAAAGTCCCCTTTAGATAGATATCTCCTTTAAAAGCCAGAGCAAGCACGGTCTCGGCTGTGTGTTGACTTTTCTGCCCTGGTGTCCTCCTACTTCCTAAAGGCACACCCCACGGTTCCCACCCCGTCTGATGCAGCCCAACACTGTTCTATTTCAGAAATGCCCTCATTCCTTCAACCAGTGTGTCTCCAGTCTGATCTTGAGACACCTATATCTTCCAAAATAATAATTAGGCCTTATTCATATATTGAATAAATAGGAAAAATAGAACATTTACATGTTGAAAGATACATACTTTTTCTGTTCCATATTACAGATCTCTCGTGTCATTCGTACTCCTCAGGGAAATGCCCTCCTGGTCGGGG
c.7423-923_7471delinsCCTTAGGTATCACTGTCTTTGCCAAGTAATAGGAGGGTGTTTATGCTCATTTTCTTTCTTTTTAAAATTCCAACATCTATACCATATGTATTAGTTCGTTTTCATGCTGCTGATAAAGACATACCCAAGACTGGGAAGGAAAAGGTTTAATTGGACTTATAGTTCCACATGGCTGAAGAGGCCTCAGAATCACGGTGGGAGGCGAAAGGCACTTCTTACATGGCGGCGGCAAGACAAAAAATGAGGAAGATGCAAAAGCGAAAACCCCTGATAAAACCATCAGATCTCATGAGACTTAGTCACTACCACAGGAACACTGTGGGGAAGCCGCCACCTTGATTCAATTATCTCCCACCAGGTCCCCACCACAACATGTGGGAATTATGGGAGTACAATTCAAGATCAGATTTGAGTTGAGACACAGCCAAACCATATCACCTCATTTTGGGGGTTTTTCTTCCCTTCAATTTAAATTTGAACACTTTTCAAATGTGGAGGATATTCTCATCAACGACGATGCCCTGTATGCCAAGGGTAGACATTGTTCTGACATTTCTGTTCTCCTTCCTGTCATACACTATTAGGTCAGACCAACTAACAGGAATCCTCAAAGTCCCCTTTAGATAGATATCTCCTTTAAAAGCCAGAGCAAGCACGGTCTCGGCTGTGTGTTGACTTTTCTGCCCTGGTGTCCTCCTACTTCCTAAAGGCACACCCCACGGTTCCCACCCCGTCTGATGCAGCCCAACACTGTTCTATTTCAGAAATGCCCTCATTCCTTCAACCAGTGTGTCTCCAGTCTGATCTTGAGACACCTATATCTTCCAAAATAATAATTAGGCCTTATTCATATATTGAATAAATAGGAAAAATAGAACATTTACATGTTGAAAGATACATACTTTTTCTGTTCCATATTACAGATCTCTCGTGTCATTCGTACTCCTCAGGGAAATGCCCTCCTGGTCGGGG
n.8945+4297_8946-3556delinsCCTTAGGTATCACTGTCTTTGCCAAGTAATAGGAGGGTGTTTATGCTCATTTTCTTTCTTTTTAAAATTCCAACATCTATACCATATGTATTAGTTCGTTTTCATGCTGCTGATAAAGACATACCCAAGACTGGGAAGGAAAAGGTTTAATTGGACTTATAGTTCCACATGGCTGAAGAGGCCTCAGAATCACGGTGGGAGGCGAAAGGCACTTCTTACATGGCGGCGGCAAGACAAAAAATGAGGAAGATGCAAAAGCGAAAACCCCTGATAAAACCATCAGATCTCATGAGACTTAGTCACTACCACAGGAACACTGTGGGGAAGCCGCCACCTTGATTCAATTATCTCCCACCAGGTCCCCACCACAACATGTGGGAATTATGGGAGTACAATTCAAGATCAGATTTGAGTTGAGACACAGCCAAACCATATCACCTCATTTTGGGGGTTTTTCTTCCCTTCAATTTAAATTTGAACACTTTTCAAATGTGGAGGATATTCTCATCAACGACGATGCCCTGTATGCCAAGGGTAGACATTGTTCTGACATTTCTGTTCTCCTTCCTGTCATACACTATTAGGTCAGACCAACTAACAGGAATCCTCAAAGTCCCCTTTAGATAGATATCTCCTTTAAAAGCCAGAGCAAGCACGGTCTCGGCTGTGTGTTGACTTTTCTGCCCTGGTGTCCTCCTACTTCCTAAAGGCACACCCCACGGTTCCCACCCCGTCTGATGCAGCCCAACACTGTTCTATTTCAGAAATGCCCTCATTCCTTCAACCAGTGTGTCTCCAGTCTGATCTTGAGACACCTATATCTTCCAAAATAATAATTAGGCCTTATTCATATATTGAATAAATAGGAAAAATAGAACATTTACATGTTGAAAGATACATACTTTTTCTGTTCCATATTACAGATCTCTCGTGTCATTCGTACTCCTCAGGGAAATGCCCTCCTGGTCGGGG
5g.13780912C>ACA443259336DNAH5c.8868G>T (p.Gly2956=)
c.8823G>T (p.Gly2941=)
n.9028-3557G>T
c.8976G>T (p.Gly2992=)
c.7881G>T (p.Gly2627=)
c.4065G>T (p.Gly1355=)
c.3618G>T (p.Gly1206=)
c.2955G>T (p.Gly985=)
c.7470G>T (p.Gly2490=)
n.8946-3557G>T
 gnomAD v4
5g.13780912C>GCA443259338DNAH5c.8868G>C (p.Gly2956=)
c.8823G>C (p.Gly2941=)
n.9028-3557G>C
c.8976G>C (p.Gly2992=)
c.7881G>C (p.Gly2627=)
c.4065G>C (p.Gly1355=)
c.3618G>C (p.Gly1206=)
c.2955G>C (p.Gly985=)
c.7470G>C (p.Gly2490=)
n.8946-3557G>C
 gnomAD v4
5g.13780912C>TCA443259340DNAH5c.8868G>A (p.Gly2956=)
c.8823G>A (p.Gly2941=)
n.9028-3557G>A
c.8976G>A (p.Gly2992=)
c.7881G>A (p.Gly2627=)
c.4065G>A (p.Gly1355=)
c.3618G>A (p.Gly1206=)
c.2955G>A (p.Gly985=)
c.7470G>A (p.Gly2490=)
n.8946-3557G>A
 gnomAD v4
5g.13780912_13781882delCA1139658762DNAH5c.8821-923_8868del
c.8776-923_8823del
n.9027+4297_9028-3557del
c.8929-923_8976del
c.7834-923_7881del
c.4018-923_4065del
c.3571-923_3618del
c.2908-923_2955del
c.7423-923_7470del
n.8945+4297_8946-3557del
 ClinVar dbSNP
5g.13780913C>ACA359212853DNAH5c.8867G>T (p.Gly2956Val)
c.8822G>T (p.Gly2941Val)
n.9028-3558G>T
c.8975G>T (p.Gly2992Val)
c.7880G>T (p.Gly2627Val)
c.4064G>T (p.Gly1355Val)
c.3617G>T (p.Gly1206Val)
c.2954G>T (p.Gly985Val)
c.7469G>T (p.Gly2490Val)
n.8946-3558G>T
5g.13780913C>GCA359212856DNAH5c.8867G>C (p.Gly2956Ala)
c.8822G>C (p.Gly2941Ala)
n.9028-3558G>C
c.8975G>C (p.Gly2992Ala)
c.7880G>C (p.Gly2627Ala)
c.4064G>C (p.Gly1355Ala)
c.3617G>C (p.Gly1206Ala)
c.2954G>C (p.Gly985Ala)
c.7469G>C (p.Gly2490Ala)
n.8946-3558G>C
5g.13780913C>TCA359212854DNAH5c.8867G>A (p.Gly2956Glu)
c.8822G>A (p.Gly2941Glu)
n.9028-3558G>A
c.8975G>A (p.Gly2992Glu)
c.7880G>A (p.Gly2627Glu)
c.4064G>A (p.Gly1355Glu)
c.3617G>A (p.Gly1206Glu)
c.2954G>A (p.Gly985Glu)
c.7469G>A (p.Gly2490Glu)
n.8946-3558G>A
5g.13780914C>ACA359212857DNAH5c.8866G>T (p.Gly2956Trp)
c.8821G>T (p.Gly2941Trp)
n.9028-3559G>T
c.8974G>T (p.Gly2992Trp)
c.7879G>T (p.Gly2627Trp)
c.4063G>T (p.Gly1355Trp)
c.3616G>T (p.Gly1206Trp)
c.2953G>T (p.Gly985Trp)
c.7468G>T (p.Gly2490Trp)
n.8946-3559G>T
5g.13780914C=CA1528435879DNAH5c.8866G= (p.Gly2956=)
c.8821G= (p.Gly2941=)
n.9028-3559G=
c.8974G= (p.Gly2992=)
c.7879G= (p.Gly2627=)
c.4063G= (p.Gly1355=)
c.3616G= (p.Gly1206=)
c.2953G= (p.Gly985=)
c.7468G= (p.Gly2490=)
n.8946-3559G=
5g.13780914C>GCA359212859DNAH5c.8866G>C (p.Gly2956Arg)
c.8821G>C (p.Gly2941Arg)
n.9028-3559G>C
c.8974G>C (p.Gly2992Arg)
c.7879G>C (p.Gly2627Arg)
c.4063G>C (p.Gly1355Arg)
c.3616G>C (p.Gly1206Arg)
c.2953G>C (p.Gly985Arg)
c.7468G>C (p.Gly2490Arg)
n.8946-3559G>C
 gnomAD v4
5g.13780914C>TCA3202683DNAH5c.8866G>A (p.Gly2956Arg)
c.8821G>A (p.Gly2941Arg)
n.9028-3559G>A
c.8974G>A (p.Gly2992Arg)
c.7879G>A (p.Gly2627Arg)
c.4063G>A (p.Gly1355Arg)
c.3616G>A (p.Gly1206Arg)
c.2953G>A (p.Gly985Arg)
c.7468G>A (p.Gly2490Arg)
n.8946-3559G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.13780915G>ACA3202684DNAH5c.8865C>T (p.Val2955=)
c.8820C>T (p.Val2940=)
n.9028-3560C>T
c.8973C>T (p.Val2991=)
c.7878C>T (p.Val2626=)
c.4062C>T (p.Val1354=)
c.3615C>T (p.Val1205=)
c.2952C>T (p.Val984=)
c.7467C>T (p.Val2489=)
n.8946-3560C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13780915G>CCA443259355DNAH5c.8865C>G (p.Val2955=)
c.8820C>G (p.Val2940=)
n.9028-3560C>G
c.8973C>G (p.Val2991=)
c.7878C>G (p.Val2626=)
c.4062C>G (p.Val1354=)
c.3615C>G (p.Val1205=)
c.2952C>G (p.Val984=)
c.7467C>G (p.Val2489=)
n.8946-3560C>G
5g.13780915G=CA1528435880DNAH5c.8865C= (p.Val2955=)
c.8820C= (p.Val2940=)
n.9028-3560C=
c.8973C= (p.Val2991=)
c.7878C= (p.Val2626=)
c.4062C= (p.Val1354=)
c.3615C= (p.Val1205=)
c.2952C= (p.Val984=)
c.7467C= (p.Val2489=)
n.8946-3560C=
5g.13780915G>TCA443259352DNAH5c.8865C>A (p.Val2955=)
c.8820C>A (p.Val2940=)
n.9028-3560C>A
c.8973C>A (p.Val2991=)
c.7878C>A (p.Val2626=)
c.4062C>A (p.Val1354=)
c.3615C>A (p.Val1205=)
c.2952C>A (p.Val984=)
c.7467C>A (p.Val2489=)
n.8946-3560C>A
 gnomAD v4
5g.13780915_13780916delinsGACA1528435881DNAH5c.8864_8865delinsTC (p.Val2955=)
c.8819_8820delinsTC (p.Val2940=)
n.9028-3561_9028-3560delinsTC
c.8972_8973delinsTC (p.Val2991=)
c.7877_7878delinsTC (p.Val2626=)
c.4061_4062delinsTC (p.Val1354=)
c.3614_3615delinsTC (p.Val1205=)
c.2951_2952delinsTC (p.Val984=)
c.7466_7467delinsTC (p.Val2489=)
n.8946-3561_8946-3560delinsTC
5g.13780916delCA891843375DNAH5c.8864del (p.Val2955AlafsTer11)
c.8819del (p.Val2940AlafsTer11)
n.9028-3561del
c.8972del (p.Val2991AlafsTer11)
c.7877del (p.Val2626AlafsTer11)
c.4061del (p.Val1354AlafsTer11)
c.3614del (p.Val1205AlafsTer11)
c.2951del (p.Val984AlafsTer11)
c.7466del (p.Val2489AlafsTer11)
n.8946-3561del
 ClinVar dbSNP
5g.13780916A>CCA359212861DNAH5c.8864T>G (p.Val2955Gly)
c.8819T>G (p.Val2940Gly)
n.9028-3561T>G
c.8972T>G (p.Val2991Gly)
c.7877T>G (p.Val2626Gly)
c.4061T>G (p.Val1354Gly)
c.3614T>G (p.Val1205Gly)
c.2951T>G (p.Val984Gly)
c.7466T>G (p.Val2489Gly)
n.8946-3561T>G
5g.13780916A>GCA359212863DNAH5c.8864T>C (p.Val2955Ala)
c.8819T>C (p.Val2940Ala)
n.9028-3561T>C
c.8972T>C (p.Val2991Ala)
c.7877T>C (p.Val2626Ala)
c.4061T>C (p.Val1354Ala)
c.3614T>C (p.Val1205Ala)
c.2951T>C (p.Val984Ala)
c.7466T>C (p.Val2489Ala)
n.8946-3561T>C
5g.13780916A>TCA359212864DNAH5c.8864T>A (p.Val2955Asp)
c.8819T>A (p.Val2940Asp)
n.9028-3561T>A
c.8972T>A (p.Val2991Asp)
c.7877T>A (p.Val2626Asp)
c.4061T>A (p.Val1354Asp)
c.3614T>A (p.Val1205Asp)
c.2951T>A (p.Val984Asp)
c.7466T>A (p.Val2489Asp)
n.8946-3561T>A
5g.13780917C>ACA359212866DNAH5c.8863G>T (p.Val2955Phe)
c.8818G>T (p.Val2940Phe)
n.9028-3562G>T
c.8971G>T (p.Val2991Phe)
c.7876G>T (p.Val2626Phe)
c.4060G>T (p.Val1354Phe)
c.3613G>T (p.Val1205Phe)
c.2950G>T (p.Val984Phe)
c.7465G>T (p.Val2489Phe)
n.8946-3562G>T
5g.13780917C=CA1528435882DNAH5c.8863G= (p.Val2955=)
c.8818G= (p.Val2940=)
n.9028-3562G=
c.8971G= (p.Val2991=)
c.7876G= (p.Val2626=)
c.4060G= (p.Val1354=)
c.3613G= (p.Val1205=)
c.2950G= (p.Val984=)
c.7465G= (p.Val2489=)
n.8946-3562G=
5g.13780917C>GCA3202685DNAH5c.8863G>C (p.Val2955Leu)
c.8818G>C (p.Val2940Leu)
n.9028-3562G>C
c.8971G>C (p.Val2991Leu)
c.7876G>C (p.Val2626Leu)
c.4060G>C (p.Val1354Leu)
c.3613G>C (p.Val1205Leu)
c.2950G>C (p.Val984Leu)
c.7465G>C (p.Val2489Leu)
n.8946-3562G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13780917C>TCA3202686DNAH5c.8863G>A (p.Val2955Ile)
c.8818G>A (p.Val2940Ile)
n.9028-3562G>A
c.8971G>A (p.Val2991Ile)
c.7876G>A (p.Val2626Ile)
c.4060G>A (p.Val1354Ile)
c.3613G>A (p.Val1205Ile)
c.2950G>A (p.Val984Ile)
c.7465G>A (p.Val2489Ile)
n.8946-3562G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13780917_13780918insACACCCAACACA2765348612DNAH5c.8862_8863insTGTTGGGTGT (p.Val2955CysfsTer?)
c.8817_8818insTGTTGGGTGT (p.Val2940CysfsTer?)
n.9028-3563_9028-3562insTGTTGGGTGT
c.8970_8971insTGTTGGGTGT (p.Val2991CysfsTer?)
c.7875_7876insTGTTGGGTGT (p.Val2626CysfsTer?)
c.4059_4060insTGTTGGGTGT (p.Val1354CysfsTer?)
c.3612_3613insTGTTGGGTGT (p.Val1205CysfsTer?)
c.2949_2950insTGTTGGGTGT (p.Val984CysfsTer?)
c.7464_7465insTGTTGGGTGT (p.Val2489CysfsTer?)
n.8946-3563_8946-3562insTGTTGGGTGT
5g.13780918C>ACA3202687DNAH5c.8862G>T (p.Leu2954=)
c.8817G>T (p.Leu2939=)
n.9028-3563G>T
c.8970G>T (p.Leu2990=)
c.7875G>T (p.Leu2625=)
c.4059G>T (p.Leu1353=)
c.3612G>T (p.Leu1204=)
c.2949G>T (p.Leu983=)
c.7464G>T (p.Leu2488=)
n.8946-3563G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13780918C=CA1528435883DNAH5c.8862G= (p.Leu2954=)
c.8817G= (p.Leu2939=)
n.9028-3563G=
c.8970G= (p.Leu2990=)
c.7875G= (p.Leu2625=)
c.4059G= (p.Leu1353=)
c.3612G= (p.Leu1204=)
c.2949G= (p.Leu983=)
c.7464G= (p.Leu2488=)
n.8946-3563G=
5g.13780918C>GCA443259358DNAH5c.8862G>C (p.Leu2954=)
c.8817G>C (p.Leu2939=)
n.9028-3563G>C
c.8970G>C (p.Leu2990=)
c.7875G>C (p.Leu2625=)
c.4059G>C (p.Leu1353=)
c.3612G>C (p.Leu1204=)
c.2949G>C (p.Leu983=)
c.7464G>C (p.Leu2488=)
n.8946-3563G>C
5g.13780918C>TCA443259360DNAH5c.8862G>A (p.Leu2954=)
c.8817G>A (p.Leu2939=)
n.9028-3563G>A
c.8970G>A (p.Leu2990=)
c.7875G>A (p.Leu2625=)
c.4059G>A (p.Leu1353=)
c.3612G>A (p.Leu1204=)
c.2949G>A (p.Leu983=)
c.7464G>A (p.Leu2488=)
n.8946-3563G>A
5g.13780919A>CCA359212870DNAH5c.8861T>G (p.Leu2954Arg)
c.8816T>G (p.Leu2939Arg)
n.9028-3564T>G
c.8969T>G (p.Leu2990Arg)
c.7874T>G (p.Leu2625Arg)
c.4058T>G (p.Leu1353Arg)
c.3611T>G (p.Leu1204Arg)
c.2948T>G (p.Leu983Arg)
c.7463T>G (p.Leu2488Arg)
n.8946-3564T>G
5g.13780919A>GCA359212869DNAH5c.8861T>C (p.Leu2954Pro)
c.8816T>C (p.Leu2939Pro)
n.9028-3564T>C
c.8969T>C (p.Leu2990Pro)
c.7874T>C (p.Leu2625Pro)
c.4058T>C (p.Leu1353Pro)
c.3611T>C (p.Leu1204Pro)
c.2948T>C (p.Leu983Pro)
c.7463T>C (p.Leu2488Pro)
n.8946-3564T>C
5g.13780919A>TCA359212868DNAH5c.8861T>A (p.Leu2954Gln)
c.8816T>A (p.Leu2939Gln)
n.9028-3564T>A
c.8969T>A (p.Leu2990Gln)
c.7874T>A (p.Leu2625Gln)
c.4058T>A (p.Leu1353Gln)
c.3611T>A (p.Leu1204Gln)
c.2948T>A (p.Leu983Gln)
c.7463T>A (p.Leu2488Gln)
n.8946-3564T>A
5g.13780920G>ACA443259371DNAH5c.8860C>T (p.Leu2954=)
c.8815C>T (p.Leu2939=)
n.9028-3565C>T
c.8968C>T (p.Leu2990=)
c.7873C>T (p.Leu2625=)
c.4057C>T (p.Leu1353=)
c.3610C>T (p.Leu1204=)
c.2947C>T (p.Leu983=)
c.7462C>T (p.Leu2488=)
n.8946-3565C>T
 gnomAD v4 COSMIC
5g.13780920G>CCA359212872DNAH5c.8860C>G (p.Leu2954Val)
c.8815C>G (p.Leu2939Val)
n.9028-3565C>G
c.8968C>G (p.Leu2990Val)
c.7873C>G (p.Leu2625Val)
c.4057C>G (p.Leu1353Val)
c.3610C>G (p.Leu1204Val)
c.2947C>G (p.Leu983Val)
c.7462C>G (p.Leu2488Val)
n.8946-3565C>G
 gnomAD v4
5g.13780920G>TCA359212873DNAH5c.8860C>A (p.Leu2954Met)
c.8815C>A (p.Leu2939Met)
n.9028-3565C>A
c.8968C>A (p.Leu2990Met)
c.7873C>A (p.Leu2625Met)
c.4057C>A (p.Leu1353Met)
c.3610C>A (p.Leu1204Met)
c.2947C>A (p.Leu983Met)
c.7462C>A (p.Leu2488Met)
n.8946-3565C>A
5g.13780921G>ACA443259373DNAH5c.8859C>T (p.Leu2953=)
c.8814C>T (p.Leu2938=)
n.9028-3566C>T
c.8967C>T (p.Leu2989=)
c.7872C>T (p.Leu2624=)
c.4056C>T (p.Leu1352=)
c.3609C>T (p.Leu1203=)
c.2946C>T (p.Leu982=)
c.7461C>T (p.Leu2487=)
n.8946-3566C>T
 COSMIC
5g.13780921G>CCA443259377DNAH5c.8859C>G (p.Leu2953=)
c.8814C>G (p.Leu2938=)
n.9028-3566C>G
c.8967C>G (p.Leu2989=)
c.7872C>G (p.Leu2624=)
c.4056C>G (p.Leu1352=)
c.3609C>G (p.Leu1203=)
c.2946C>G (p.Leu982=)
c.7461C>G (p.Leu2487=)
n.8946-3566C>G
5g.13780921G>TCA443259375DNAH5c.8859C>A (p.Leu2953=)
c.8814C>A (p.Leu2938=)
n.9028-3566C>A
c.8967C>A (p.Leu2989=)
c.7872C>A (p.Leu2624=)
c.4056C>A (p.Leu1352=)
c.3609C>A (p.Leu1203=)
c.2946C>A (p.Leu982=)
c.7461C>A (p.Leu2487=)
n.8946-3566C>A
5g.13780922A>CCA359212875DNAH5c.8858T>G (p.Leu2953Arg)
c.8813T>G (p.Leu2938Arg)
n.9028-3567T>G
c.8966T>G (p.Leu2989Arg)
c.7871T>G (p.Leu2624Arg)
c.4055T>G (p.Leu1352Arg)
c.3608T>G (p.Leu1203Arg)
c.2945T>G (p.Leu982Arg)
c.7460T>G (p.Leu2487Arg)
n.8946-3567T>G
5g.13780922A>GCA359212876DNAH5c.8858T>C (p.Leu2953Pro)
c.8813T>C (p.Leu2938Pro)
n.9028-3567T>C
c.8966T>C (p.Leu2989Pro)
c.7871T>C (p.Leu2624Pro)
c.4055T>C (p.Leu1352Pro)
c.3608T>C (p.Leu1203Pro)
c.2945T>C (p.Leu982Pro)
c.7460T>C (p.Leu2487Pro)
n.8946-3567T>C
5g.13780922A>TCA359212878DNAH5c.8858T>A (p.Leu2953His)
c.8813T>A (p.Leu2938His)
n.9028-3567T>A
c.8966T>A (p.Leu2989His)
c.7871T>A (p.Leu2624His)
c.4055T>A (p.Leu1352His)
c.3608T>A (p.Leu1203His)
c.2945T>A (p.Leu982His)
c.7460T>A (p.Leu2487His)
n.8946-3567T>A
5g.13780923G>ACA359212880DNAH5c.8857C>T (p.Leu2953Phe)
c.8812C>T (p.Leu2938Phe)
n.9028-3568C>T
c.8965C>T (p.Leu2989Phe)
c.7870C>T (p.Leu2624Phe)
c.4054C>T (p.Leu1352Phe)
c.3607C>T (p.Leu1203Phe)
c.2944C>T (p.Leu982Phe)
c.7459C>T (p.Leu2487Phe)
n.8946-3568C>T
5g.13780923G>CCA359212881DNAH5c.8857C>G (p.Leu2953Val)
c.8812C>G (p.Leu2938Val)
n.9028-3568C>G
c.8965C>G (p.Leu2989Val)
c.7870C>G (p.Leu2624Val)
c.4054C>G (p.Leu1352Val)
c.3607C>G (p.Leu1203Val)
c.2944C>G (p.Leu982Val)
c.7459C>G (p.Leu2487Val)
n.8946-3568C>G
 gnomAD v4
5g.13780923G>TCA359212883DNAH5c.8857C>A (p.Leu2953Ile)
c.8812C>A (p.Leu2938Ile)
n.9028-3568C>A
c.8965C>A (p.Leu2989Ile)
c.7870C>A (p.Leu2624Ile)
c.4054C>A (p.Leu1352Ile)
c.3607C>A (p.Leu1203Ile)
c.2944C>A (p.Leu982Ile)
c.7459C>A (p.Leu2487Ile)
n.8946-3568C>A
5g.13780924G>ACA3202688DNAH5c.8856C>T (p.Ala2952=)
c.8811C>T (p.Ala2937=)
n.9028-3569C>T
c.8964C>T (p.Ala2988=)
c.7869C>T (p.Ala2623=)
c.4053C>T (p.Ala1351=)
c.3606C>T (p.Ala1202=)
c.2943C>T (p.Ala981=)
c.7458C>T (p.Ala2486=)
n.8946-3569C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13780924G>CCA443259388DNAH5c.8856C>G (p.Ala2952=)
c.8811C>G (p.Ala2937=)
n.9028-3569C>G
c.8964C>G (p.Ala2988=)
c.7869C>G (p.Ala2623=)
c.4053C>G (p.Ala1351=)
c.3606C>G (p.Ala1202=)
c.2943C>G (p.Ala981=)
c.7458C>G (p.Ala2486=)
n.8946-3569C>G
5g.13780924G=CA1528435884DNAH5c.8856C= (p.Ala2952=)
c.8811C= (p.Ala2937=)
n.9028-3569C=
c.8964C= (p.Ala2988=)
c.7869C= (p.Ala2623=)
c.4053C= (p.Ala1351=)
c.3606C= (p.Ala1202=)
c.2943C= (p.Ala981=)
c.7458C= (p.Ala2486=)
n.8946-3569C=
5g.13780924G>TCA443259390DNAH5c.8856C>A (p.Ala2952=)
c.8811C>A (p.Ala2937=)
n.9028-3569C>A
c.8964C>A (p.Ala2988=)
c.7869C>A (p.Ala2623=)
c.4053C>A (p.Ala1351=)
c.3606C>A (p.Ala1202=)
c.2943C>A (p.Ala981=)
c.7458C>A (p.Ala2486=)
n.8946-3569C>A
5g.13780925G>ACA359212885DNAH5c.8855C>T (p.Ala2952Val)
c.8810C>T (p.Ala2937Val)
n.9028-3570C>T
c.8963C>T (p.Ala2988Val)
c.7868C>T (p.Ala2623Val)
c.4052C>T (p.Ala1351Val)
c.3605C>T (p.Ala1202Val)
c.2942C>T (p.Ala981Val)
c.7457C>T (p.Ala2486Val)
n.8946-3570C>T
5g.13780925G>CCA359212887DNAH5c.8855C>G (p.Ala2952Gly)
c.8810C>G (p.Ala2937Gly)
n.9028-3570C>G
c.8963C>G (p.Ala2988Gly)
c.7868C>G (p.Ala2623Gly)
c.4052C>G (p.Ala1351Gly)
c.3605C>G (p.Ala1202Gly)
c.2942C>G (p.Ala981Gly)
c.7457C>G (p.Ala2486Gly)
n.8946-3570C>G
5g.13780925G>TCA359212888DNAH5c.8855C>A (p.Ala2952Asp)
c.8810C>A (p.Ala2937Asp)
n.9028-3570C>A
c.8963C>A (p.Ala2988Asp)
c.7868C>A (p.Ala2623Asp)
c.4052C>A (p.Ala1351Asp)
c.3605C>A (p.Ala1202Asp)
c.2942C>A (p.Ala981Asp)
c.7457C>A (p.Ala2486Asp)
n.8946-3570C>A
5g.13780926C>ACA359212892DNAH5c.8854G>T (p.Ala2952Ser)
c.8809G>T (p.Ala2937Ser)
n.9028-3571G>T
c.8962G>T (p.Ala2988Ser)
c.7867G>T (p.Ala2623Ser)
c.4051G>T (p.Ala1351Ser)
c.3604G>T (p.Ala1202Ser)
c.2941G>T (p.Ala981Ser)
c.7456G>T (p.Ala2486Ser)
n.8946-3571G>T
5g.13780926C>GCA359212891DNAH5c.8854G>C (p.Ala2952Pro)
c.8809G>C (p.Ala2937Pro)
n.9028-3571G>C
c.8962G>C (p.Ala2988Pro)
c.7867G>C (p.Ala2623Pro)
c.4051G>C (p.Ala1351Pro)
c.3604G>C (p.Ala1202Pro)
c.2941G>C (p.Ala981Pro)
c.7456G>C (p.Ala2486Pro)
n.8946-3571G>C
5g.13780926C>TCA359212890DNAH5c.8854G>A (p.Ala2952Thr)
c.8809G>A (p.Ala2937Thr)
n.9028-3571G>A
c.8962G>A (p.Ala2988Thr)
c.7867G>A (p.Ala2623Thr)
c.4051G>A (p.Ala1351Thr)
c.3604G>A (p.Ala1202Thr)
c.2941G>A (p.Ala981Thr)
c.7456G>A (p.Ala2486Thr)
n.8946-3571G>A
 gnomAD v4
5g.13780927A=CA1528435885DNAH5c.8853T= (p.Asn2951=)
c.8808T= (p.Asn2936=)
n.9028-3572T=
c.8961T= (p.Asn2987=)
c.7866T= (p.Asn2622=)
c.4050T= (p.Asn1350=)
c.3603T= (p.Asn1201=)
c.2940T= (p.Asn980=)
c.7455T= (p.Asn2485=)
n.8946-3572T=
5g.13780927A>CCA359212894DNAH5c.8853T>G (p.Asn2951Lys)
c.8808T>G (p.Asn2936Lys)
n.9028-3572T>G
c.8961T>G (p.Asn2987Lys)
c.7866T>G (p.Asn2622Lys)
c.4050T>G (p.Asn1350Lys)
c.3603T>G (p.Asn1201Lys)
c.2940T>G (p.Asn980Lys)
c.7455T>G (p.Asn2485Lys)
n.8946-3572T>G
5g.13780927A>GCA443259400DNAH5c.8853T>C (p.Asn2951=)
c.8808T>C (p.Asn2936=)
n.9028-3572T>C
c.8961T>C (p.Asn2987=)
c.7866T>C (p.Asn2622=)
c.4050T>C (p.Asn1350=)
c.3603T>C (p.Asn1201=)
c.2940T>C (p.Asn980=)
c.7455T>C (p.Asn2485=)
n.8946-3572T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13780927A>TCA359212896DNAH5c.8853T>A (p.Asn2951Lys)
c.8808T>A (p.Asn2936Lys)
n.9028-3572T>A
c.8961T>A (p.Asn2987Lys)
c.7866T>A (p.Asn2622Lys)
c.4050T>A (p.Asn1350Lys)
c.3603T>A (p.Asn1201Lys)
c.2940T>A (p.Asn980Lys)
c.7455T>A (p.Asn2485Lys)
n.8946-3572T>A
5g.13780928T>ACA359212898DNAH5c.8852A>T (p.Asn2951Ile)
c.8807A>T (p.Asn2936Ile)
n.9028-3573A>T
c.8960A>T (p.Asn2987Ile)
c.7865A>T (p.Asn2622Ile)
c.4049A>T (p.Asn1350Ile)
c.3602A>T (p.Asn1201Ile)
c.2939A>T (p.Asn980Ile)
c.7454A>T (p.Asn2485Ile)
n.8946-3573A>T
5g.13780928T>CCA359212899DNAH5c.8852A>G (p.Asn2951Ser)
c.8807A>G (p.Asn2936Ser)
n.9028-3573A>G
c.8960A>G (p.Asn2987Ser)
c.7865A>G (p.Asn2622Ser)
c.4049A>G (p.Asn1350Ser)
c.3602A>G (p.Asn1201Ser)
c.2939A>G (p.Asn980Ser)
c.7454A>G (p.Asn2485Ser)
n.8946-3573A>G
5g.13780928T>GCA359212900DNAH5c.8852A>C (p.Asn2951Thr)
c.8807A>C (p.Asn2936Thr)
n.9028-3573A>C
c.8960A>C (p.Asn2987Thr)
c.7865A>C (p.Asn2622Thr)
c.4049A>C (p.Asn1350Thr)
c.3602A>C (p.Asn1201Thr)
c.2939A>C (p.Asn980Thr)
c.7454A>C (p.Asn2485Thr)
n.8946-3573A>C
5g.13780929T>ACA359212902DNAH5c.8851A>T (p.Asn2951Tyr)
c.8806A>T (p.Asn2936Tyr)
n.9028-3574A>T
c.8959A>T (p.Asn2987Tyr)
c.7864A>T (p.Asn2622Tyr)
c.4048A>T (p.Asn1350Tyr)
c.3601A>T (p.Asn1201Tyr)
c.2938A>T (p.Asn980Tyr)
c.7453A>T (p.Asn2485Tyr)
n.8946-3574A>T
5g.13780929T>CCA359212903DNAH5c.8851A>G (p.Asn2951Asp)
c.8806A>G (p.Asn2936Asp)
n.9028-3574A>G
c.8959A>G (p.Asn2987Asp)
c.7864A>G (p.Asn2622Asp)
c.4048A>G (p.Asn1350Asp)
c.3601A>G (p.Asn1201Asp)
c.2938A>G (p.Asn980Asp)
c.7453A>G (p.Asn2485Asp)
n.8946-3574A>G
5g.13780929T>GCA359212905DNAH5c.8851A>C (p.Asn2951His)
c.8806A>C (p.Asn2936His)
n.9028-3574A>C
c.8959A>C (p.Asn2987His)
c.7864A>C (p.Asn2622His)
c.4048A>C (p.Asn1350His)
c.3601A>C (p.Asn1201His)
c.2938A>C (p.Asn980His)
c.7453A>C (p.Asn2485His)
n.8946-3574A>C
5g.13780930T>ACA443259408DNAH5c.8850A>T (p.Gly2950=)
c.8805A>T (p.Gly2935=)
n.9028-3575A>T
c.8958A>T (p.Gly2986=)
c.7863A>T (p.Gly2621=)
c.4047A>T (p.Gly1349=)
c.3600A>T (p.Gly1200=)
c.2937A>T (p.Gly979=)
c.7452A>T (p.Gly2484=)
n.8946-3575A>T
5g.13780930T>CCA443259409DNAH5c.8850A>G (p.Gly2950=)
c.8805A>G (p.Gly2935=)
n.9028-3575A>G
c.8958A>G (p.Gly2986=)
c.7863A>G (p.Gly2621=)
c.4047A>G (p.Gly1349=)
c.3600A>G (p.Gly1200=)
c.2937A>G (p.Gly979=)
c.7452A>G (p.Gly2484=)
n.8946-3575A>G
 ClinVar COSMIC
5g.13780930T>GCA443259410DNAH5c.8850A>C (p.Gly2950=)
c.8805A>C (p.Gly2935=)
n.9028-3575A>C
c.8958A>C (p.Gly2986=)
c.7863A>C (p.Gly2621=)
c.4047A>C (p.Gly1349=)
c.3600A>C (p.Gly1200=)
c.2937A>C (p.Gly979=)
c.7452A>C (p.Gly2484=)
n.8946-3575A>C
5g.13780930_13780931delinsGTCA113948998DNAH5c.8849_8850delinsAC (p.Gly2950Asp)
c.8804_8805delinsAC (p.Gly2935Asp)
n.9028-3576_9028-3575delinsAC
c.8957_8958delinsAC (p.Gly2986Asp)
c.7862_7863delinsAC (p.Gly2621Asp)
c.4046_4047delinsAC (p.Gly1349Asp)
c.3599_3600delinsAC (p.Gly1200Asp)
c.2936_2937delinsAC (p.Gly979Asp)
c.7451_7452delinsAC (p.Gly2484Asp)
n.8946-3576_8946-3575delinsAC
 dbSNP
5g.13780930_13780931delinsTCCA1528435886DNAH5c.8849_8850delinsGA (p.Gly2950=)
c.8804_8805delinsGA (p.Gly2935=)
n.9028-3576_9028-3575delinsGA
c.8957_8958delinsGA (p.Gly2986=)
c.7862_7863delinsGA (p.Gly2621=)
c.4046_4047delinsGA (p.Gly1349=)
c.3599_3600delinsGA (p.Gly1200=)
c.2936_2937delinsGA (p.Gly979=)
c.7451_7452delinsGA (p.Gly2484=)
n.8946-3576_8946-3575delinsGA
5g.13780931C>ACA359212908DNAH5c.8849G>T (p.Gly2950Val)
c.8804G>T (p.Gly2935Val)
n.9028-3576G>T
c.8957G>T (p.Gly2986Val)
c.7862G>T (p.Gly2621Val)
c.4046G>T (p.Gly1349Val)
c.3599G>T (p.Gly1200Val)
c.2936G>T (p.Gly979Val)
c.7451G>T (p.Gly2484Val)
n.8946-3576G>T
5g.13780931C=CA1528435887DNAH5c.8849G= (p.Gly2950=)
c.8804G= (p.Gly2935=)
n.9028-3576G=
c.8957G= (p.Gly2986=)
c.7862G= (p.Gly2621=)
c.4046G= (p.Gly1349=)
c.3599G= (p.Gly1200=)
c.2936G= (p.Gly979=)
c.7451G= (p.Gly2484=)
n.8946-3576G=
5g.13780931C>GCA359212907DNAH5c.8849G>C (p.Gly2950Ala)
c.8804G>C (p.Gly2935Ala)
n.9028-3576G>C
c.8957G>C (p.Gly2986Ala)
c.7862G>C (p.Gly2621Ala)
c.4046G>C (p.Gly1349Ala)
c.3599G>C (p.Gly1200Ala)
c.2936G>C (p.Gly979Ala)
c.7451G>C (p.Gly2484Ala)
n.8946-3576G>C
5g.13780931C>TCA3202689DNAH5c.8849G>A (p.Gly2950Glu)
c.8804G>A (p.Gly2935Glu)
n.9028-3576G>A
c.8957G>A (p.Gly2986Glu)
c.7862G>A (p.Gly2621Glu)
c.4046G>A (p.Gly1349Glu)
c.3599G>A (p.Gly1200Glu)
c.2936G>A (p.Gly979Glu)
c.7451G>A (p.Gly2484Glu)
n.8946-3576G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.13780932C>ACA359212909DNAH5c.8848G>T (p.Gly2950Ter)
c.8803G>T (p.Gly2935Ter)
n.9028-3577G>T
c.8956G>T (p.Gly2986Ter)
c.7861G>T (p.Gly2621Ter)
c.4045G>T (p.Gly1349Ter)
c.3598G>T (p.Gly1200Ter)
c.2935G>T (p.Gly979Ter)
c.7450G>T (p.Gly2484Ter)
n.8946-3577G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13780932C=CA1528435888DNAH5c.8848G= (p.Gly2950=)
c.8803G= (p.Gly2935=)
n.9028-3577G=
c.8956G= (p.Gly2986=)
c.7861G= (p.Gly2621=)
c.4045G= (p.Gly1349=)
c.3598G= (p.Gly1200=)
c.2935G= (p.Gly979=)
c.7450G= (p.Gly2484=)
n.8946-3577G=
5g.13780932C>GCA359212910DNAH5c.8848G>C (p.Gly2950Arg)
c.8803G>C (p.Gly2935Arg)
n.9028-3577G>C
c.8956G>C (p.Gly2986Arg)
c.7861G>C (p.Gly2621Arg)
c.4045G>C (p.Gly1349Arg)
c.3598G>C (p.Gly1200Arg)
c.2935G>C (p.Gly979Arg)
c.7450G>C (p.Gly2484Arg)
n.8946-3577G>C
5g.13780932C>TCA359212912DNAH5c.8848G>A (p.Gly2950Arg)
c.8803G>A (p.Gly2935Arg)
n.9028-3577G>A
c.8956G>A (p.Gly2986Arg)
c.7861G>A (p.Gly2621Arg)
c.4045G>A (p.Gly1349Arg)
c.3598G>A (p.Gly1200Arg)
c.2935G>A (p.Gly979Arg)
c.7450G>A (p.Gly2484Arg)
n.8946-3577G>A
 COSMIC
5g.13780933C>ACA359212914DNAH5c.8847G>T (p.Gln2949His)
c.8802G>T (p.Gln2934His)
n.9028-3578G>T
c.8955G>T (p.Gln2985His)
c.7860G>T (p.Gln2620His)
c.4044G>T (p.Gln1348His)
c.3597G>T (p.Gln1199His)
c.2934G>T (p.Gln978His)
c.7449G>T (p.Gln2483His)
n.8946-3578G>T
 dbSNP gnomAD v2 gnomAD v4
5g.13780933C=CA1528435889DNAH5c.8847G= (p.Gln2949=)
c.8802G= (p.Gln2934=)
n.9028-3578G=
c.8955G= (p.Gln2985=)
c.7860G= (p.Gln2620=)
c.4044G= (p.Gln1348=)
c.3597G= (p.Gln1199=)
c.2934G= (p.Gln978=)
c.7449G= (p.Gln2483=)
n.8946-3578G=
5g.13780933C>GCA359212915DNAH5c.8847G>C (p.Gln2949His)
c.8802G>C (p.Gln2934His)
n.9028-3578G>C
c.8955G>C (p.Gln2985His)
c.7860G>C (p.Gln2620His)
c.4044G>C (p.Gln1348His)
c.3597G>C (p.Gln1199His)
c.2934G>C (p.Gln978His)
c.7449G>C (p.Gln2483His)
n.8946-3578G>C
5g.13780933C>TCA443259420DNAH5c.8847G>A (p.Gln2949=)
c.8802G>A (p.Gln2934=)
n.9028-3578G>A
c.8955G>A (p.Gln2985=)
c.7860G>A (p.Gln2620=)
c.4044G>A (p.Gln1348=)
c.3597G>A (p.Gln1199=)
c.2934G>A (p.Gln978=)
c.7449G>A (p.Gln2483=)
n.8946-3578G>A
 ClinVar
5g.13780934T>ACA359212919DNAH5c.8846A>T (p.Gln2949Leu)
c.8801A>T (p.Gln2934Leu)
n.9028-3579A>T
c.8954A>T (p.Gln2985Leu)
c.7859A>T (p.Gln2620Leu)
c.4043A>T (p.Gln1348Leu)
c.3596A>T (p.Gln1199Leu)
c.2933A>T (p.Gln978Leu)
c.7448A>T (p.Gln2483Leu)
n.8946-3579A>T
5g.13780934T>CCA359212917DNAH5c.8846A>G (p.Gln2949Arg)
c.8801A>G (p.Gln2934Arg)
n.9028-3579A>G
c.8954A>G (p.Gln2985Arg)
c.7859A>G (p.Gln2620Arg)
c.4043A>G (p.Gln1348Arg)
c.3596A>G (p.Gln1199Arg)
c.2933A>G (p.Gln978Arg)
c.7448A>G (p.Gln2483Arg)
n.8946-3579A>G
 dbSNP
5g.13780934T>GCA359212918DNAH5c.8846A>C (p.Gln2949Pro)
c.8801A>C (p.Gln2934Pro)
n.9028-3579A>C
c.8954A>C (p.Gln2985Pro)
c.7859A>C (p.Gln2620Pro)
c.4043A>C (p.Gln1348Pro)
c.3596A>C (p.Gln1199Pro)
c.2933A>C (p.Gln978Pro)
c.7448A>C (p.Gln2483Pro)
n.8946-3579A>C
 dbSNP
5g.13780934T=CA1528435890DNAH5c.8846A= (p.Gln2949=)
c.8801A= (p.Gln2934=)
n.9028-3579A=
c.8954A= (p.Gln2985=)
c.7859A= (p.Gln2620=)
c.4043A= (p.Gln1348=)
c.3596A= (p.Gln1199=)
c.2933A= (p.Gln978=)
c.7448A= (p.Gln2483=)
n.8946-3579A=
5g.13780934_13780937delinsTGAGCA1528435891DNAH5c.8843_8846delinsCTCA (p.Pro2948=)
c.8798_8801delinsCTCA (p.Pro2933=)
n.9028-3582_9028-3579delinsCTCA
c.8951_8954delinsCTCA (p.Pro2984=)
c.7856_7859delinsCTCA (p.Pro2619=)
c.4040_4043delinsCTCA (p.Pro1347=)
c.3593_3596delinsCTCA (p.Pro1198=)
c.2930_2933delinsCTCA (p.Pro977=)
c.7445_7448delinsCTCA (p.Pro2482=)
n.8946-3582_8946-3579delinsCTCA
5g.13780935G>ACA359212922DNAH5c.8845C>T (p.Gln2949Ter)
c.8800C>T (p.Gln2934Ter)
n.9028-3580C>T
c.8953C>T (p.Gln2985Ter)
c.7858C>T (p.Gln2620Ter)
c.4042C>T (p.Gln1348Ter)
c.3595C>T (p.Gln1199Ter)
c.2932C>T (p.Gln978Ter)
c.7447C>T (p.Gln2483Ter)
n.8946-3580C>T
 COSMIC
5g.13780935G>CCA3202691DNAH5c.8845C>G (p.Gln2949Glu)
c.8800C>G (p.Gln2934Glu)
n.9028-3580C>G
c.8953C>G (p.Gln2985Glu)
c.7858C>G (p.Gln2620Glu)
c.4042C>G (p.Gln1348Glu)
c.3595C>G (p.Gln1199Glu)
c.2932C>G (p.Gln978Glu)
c.7447C>G (p.Gln2483Glu)
n.8946-3580C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13780935G=CA1528435892DNAH5c.8845C= (p.Gln2949=)
c.8800C= (p.Gln2934=)
n.9028-3580C=
c.8953C= (p.Gln2985=)
c.7858C= (p.Gln2620=)
c.4042C= (p.Gln1348=)
c.3595C= (p.Gln1199=)
c.2932C= (p.Gln978=)
c.7447C= (p.Gln2483=)
n.8946-3580C=
5g.13780935G>TCA359212924DNAH5c.8845C>A (p.Gln2949Lys)
c.8800C>A (p.Gln2934Lys)
n.9028-3580C>A
c.8953C>A (p.Gln2985Lys)
c.7858C>A (p.Gln2620Lys)
c.4042C>A (p.Gln1348Lys)
c.3595C>A (p.Gln1199Lys)
c.2932C>A (p.Gln978Lys)
c.7447C>A (p.Gln2483Lys)
n.8946-3580C>A
5g.13780938_13780940delCA3202690DNAH5c.8843_8845del (p.Pro2948del)
c.8798_8800del (p.Pro2933del)
n.9028-3582_9028-3580del
c.8951_8953del (p.Pro2984del)
c.7856_7858del (p.Pro2619del)
c.4040_4042del (p.Pro1347del)
c.3593_3595del (p.Pro1198del)
c.2930_2932del (p.Pro977del)
c.7445_7447del (p.Pro2482del)
n.8946-3582_8946-3580del
 dbSNP ExAC gnomAD v2
5g.13780936A>CCA443259430DNAH5c.8844T>G (p.Pro2948=)
c.8799T>G (p.Pro2933=)
n.9028-3581T>G
c.8952T>G (p.Pro2984=)
c.7857T>G (p.Pro2619=)
c.4041T>G (p.Pro1347=)
c.3594T>G (p.Pro1198=)
c.2931T>G (p.Pro977=)
c.7446T>G (p.Pro2482=)
n.8946-3581T>G
5g.13780936A>GCA443259432DNAH5c.8844T>C (p.Pro2948=)
c.8799T>C (p.Pro2933=)
n.9028-3581T>C
c.8952T>C (p.Pro2984=)
c.7857T>C (p.Pro2619=)
c.4041T>C (p.Pro1347=)
c.3594T>C (p.Pro1198=)
c.2931T>C (p.Pro977=)
c.7446T>C (p.Pro2482=)
n.8946-3581T>C
5g.13780936A>TCA443259428DNAH5c.8844T>A (p.Pro2948=)
c.8799T>A (p.Pro2933=)
n.9028-3581T>A
c.8952T>A (p.Pro2984=)
c.7857T>A (p.Pro2619=)
c.4041T>A (p.Pro1347=)
c.3594T>A (p.Pro1198=)
c.2931T>A (p.Pro977=)
c.7446T>A (p.Pro2482=)
n.8946-3581T>A
5g.13780937G>ACA113949013DNAH5c.8843C>T (p.Pro2948Leu)
c.8798C>T (p.Pro2933Leu)
n.9028-3582C>T
c.8951C>T (p.Pro2984Leu)
c.7856C>T (p.Pro2619Leu)
c.4040C>T (p.Pro1347Leu)
c.3593C>T (p.Pro1198Leu)
c.2930C>T (p.Pro977Leu)
c.7445C>T (p.Pro2482Leu)
n.8946-3582C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13780937G>CCA359212926DNAH5c.8843C>G (p.Pro2948Arg)
c.8798C>G (p.Pro2933Arg)
n.9028-3582C>G
c.8951C>G (p.Pro2984Arg)
c.7856C>G (p.Pro2619Arg)
c.4040C>G (p.Pro1347Arg)
c.3593C>G (p.Pro1198Arg)
c.2930C>G (p.Pro977Arg)
c.7445C>G (p.Pro2482Arg)
n.8946-3582C>G
5g.13780937G=CA1528435893DNAH5c.8843C= (p.Pro2948=)
c.8798C= (p.Pro2933=)
n.9028-3582C=
c.8951C= (p.Pro2984=)
c.7856C= (p.Pro2619=)
c.4040C= (p.Pro1347=)
c.3593C= (p.Pro1198=)
c.2930C= (p.Pro977=)
c.7445C= (p.Pro2482=)
n.8946-3582C=
5g.13780937G>TCA359212928DNAH5c.8843C>A (p.Pro2948His)
c.8798C>A (p.Pro2933His)
n.9028-3582C>A
c.8951C>A (p.Pro2984His)
c.7856C>A (p.Pro2619His)
c.4040C>A (p.Pro1347His)
c.3593C>A (p.Pro1198His)
c.2930C>A (p.Pro977His)
c.7445C>A (p.Pro2482His)
n.8946-3582C>A
5g.13780938G>ACA3202692DNAH5c.8842C>T (p.Pro2948Ser)
c.8797C>T (p.Pro2933Ser)
n.9028-3583C>T
c.8950C>T (p.Pro2984Ser)
c.7855C>T (p.Pro2619Ser)
c.4039C>T (p.Pro1347Ser)
c.3592C>T (p.Pro1198Ser)
c.2929C>T (p.Pro977Ser)
c.7444C>T (p.Pro2482Ser)
n.8946-3583C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13780938G>CCA359212930DNAH5c.8842C>G (p.Pro2948Ala)
c.8797C>G (p.Pro2933Ala)
n.9028-3583C>G
c.8950C>G (p.Pro2984Ala)
c.7855C>G (p.Pro2619Ala)
c.4039C>G (p.Pro1347Ala)
c.3592C>G (p.Pro1198Ala)
c.2929C>G (p.Pro977Ala)
c.7444C>G (p.Pro2482Ala)
n.8946-3583C>G
5g.13780938G=CA1528435894DNAH5c.8842C= (p.Pro2948=)
c.8797C= (p.Pro2933=)
n.9028-3583C=
c.8950C= (p.Pro2984=)
c.7855C= (p.Pro2619=)
c.4039C= (p.Pro1347=)
c.3592C= (p.Pro1198=)
c.2929C= (p.Pro977=)
c.7444C= (p.Pro2482=)
n.8946-3583C=
5g.13780938G>TCA359212932DNAH5c.8842C>A (p.Pro2948Thr)
c.8797C>A (p.Pro2933Thr)
n.9028-3583C>A
c.8950C>A (p.Pro2984Thr)
c.7855C>A (p.Pro2619Thr)
c.4039C>A (p.Pro1347Thr)
c.3592C>A (p.Pro1198Thr)
c.2929C>A (p.Pro977Thr)
c.7444C>A (p.Pro2482Thr)
n.8946-3583C>A
 COSMIC
5g.13780939A>CCA443259443DNAH5c.8841T>G (p.Thr2947=)
c.8796T>G (p.Thr2932=)
n.9028-3584T>G
c.8949T>G (p.Thr2983=)
c.7854T>G (p.Thr2618=)
c.4038T>G (p.Thr1346=)
c.3591T>G (p.Thr1197=)
c.2928T>G (p.Thr976=)
c.7443T>G (p.Thr2481=)
n.8946-3584T>G
5g.13780939A>GCA443259448DNAH5c.8841T>C (p.Thr2947=)
c.8796T>C (p.Thr2932=)
n.9028-3584T>C
c.8949T>C (p.Thr2983=)
c.7854T>C (p.Thr2618=)
c.4038T>C (p.Thr1346=)
c.3591T>C (p.Thr1197=)
c.2928T>C (p.Thr976=)
c.7443T>C (p.Thr2481=)
n.8946-3584T>C
 ClinVar gnomAD v4
5g.13780939A>TCA443259446DNAH5c.8841T>A (p.Thr2947=)
c.8796T>A (p.Thr2932=)
n.9028-3584T>A
c.8949T>A (p.Thr2983=)
c.7854T>A (p.Thr2618=)
c.4038T>A (p.Thr1346=)
c.3591T>A (p.Thr1197=)
c.2928T>A (p.Thr976=)
c.7443T>A (p.Thr2481=)
n.8946-3584T>A
5g.13780940G>ACA3202693DNAH5c.8840C>T (p.Thr2947Ile)
c.8795C>T (p.Thr2932Ile)
n.9028-3585C>T
c.8948C>T (p.Thr2983Ile)
c.7853C>T (p.Thr2618Ile)
c.4037C>T (p.Thr1346Ile)
c.3590C>T (p.Thr1197Ile)
c.2927C>T (p.Thr976Ile)
c.7442C>T (p.Thr2481Ile)
n.8946-3585C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13780940G>CCA3202694DNAH5c.8840C>G (p.Thr2947Ser)
c.8795C>G (p.Thr2932Ser)
n.9028-3585C>G
c.8948C>G (p.Thr2983Ser)
c.7853C>G (p.Thr2618Ser)
c.4037C>G (p.Thr1346Ser)
c.3590C>G (p.Thr1197Ser)
c.2927C>G (p.Thr976Ser)
c.7442C>G (p.Thr2481Ser)
n.8946-3585C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13780940G=CA1528435895DNAH5c.8840C= (p.Thr2947=)
c.8795C= (p.Thr2932=)
n.9028-3585C=
c.8948C= (p.Thr2983=)
c.7853C= (p.Thr2618=)
c.4037C= (p.Thr1346=)
c.3590C= (p.Thr1197=)
c.2927C= (p.Thr976=)
c.7442C= (p.Thr2481=)
n.8946-3585C=
5g.13780940G>TCA359212934DNAH5c.8840C>A (p.Thr2947Asn)
c.8795C>A (p.Thr2932Asn)
n.9028-3585C>A
c.8948C>A (p.Thr2983Asn)
c.7853C>A (p.Thr2618Asn)
c.4037C>A (p.Thr1346Asn)
c.3590C>A (p.Thr1197Asn)
c.2927C>A (p.Thr976Asn)
c.7442C>A (p.Thr2481Asn)
n.8946-3585C>A
5g.13780941T>ACA359212940DNAH5c.8839A>T (p.Thr2947Ser)
c.8794A>T (p.Thr2932Ser)
n.9028-3586A>T
c.8947A>T (p.Thr2983Ser)
c.7852A>T (p.Thr2618Ser)
c.4036A>T (p.Thr1346Ser)
c.3589A>T (p.Thr1197Ser)
c.2926A>T (p.Thr976Ser)
c.7441A>T (p.Thr2481Ser)
n.8946-3586A>T
5g.13780941T>CCA359212936DNAH5c.8839A>G (p.Thr2947Ala)
c.8794A>G (p.Thr2932Ala)
n.9028-3586A>G
c.8947A>G (p.Thr2983Ala)
c.7852A>G (p.Thr2618Ala)
c.4036A>G (p.Thr1346Ala)
c.3589A>G (p.Thr1197Ala)
c.2926A>G (p.Thr976Ala)
c.7441A>G (p.Thr2481Ala)
n.8946-3586A>G
5g.13780941T>GCA359212938DNAH5c.8839A>C (p.Thr2947Pro)
c.8794A>C (p.Thr2932Pro)
n.9028-3586A>C
c.8947A>C (p.Thr2983Pro)
c.7852A>C (p.Thr2618Pro)
c.4036A>C (p.Thr1346Pro)
c.3589A>C (p.Thr1197Pro)
c.2926A>C (p.Thr976Pro)
c.7441A>C (p.Thr2481Pro)
n.8946-3586A>C
5g.13780942A=CA1528435896DNAH5c.8838T= (p.Arg2946=)
c.8793T= (p.Arg2931=)
n.9028-3587T=
c.8946T= (p.Arg2982=)
c.7851T= (p.Arg2617=)
c.4035T= (p.Arg1345=)
c.3588T= (p.Arg1196=)
c.2925T= (p.Arg975=)
c.7440T= (p.Arg2480=)
n.8946-3587T=
5g.13780942A>CCA443259457DNAH5c.8838T>G (p.Arg2946=)
c.8793T>G (p.Arg2931=)
n.9028-3587T>G
c.8946T>G (p.Arg2982=)
c.7851T>G (p.Arg2617=)
c.4035T>G (p.Arg1345=)
c.3588T>G (p.Arg1196=)
c.2925T>G (p.Arg975=)
c.7440T>G (p.Arg2480=)
n.8946-3587T>G
5g.13780942A>GCA3202695DNAH5c.8838T>C (p.Arg2946=)
c.8793T>C (p.Arg2931=)
n.9028-3587T>C
c.8946T>C (p.Arg2982=)
c.7851T>C (p.Arg2617=)
c.4035T>C (p.Arg1345=)
c.3588T>C (p.Arg1196=)
c.2925T>C (p.Arg975=)
c.7440T>C (p.Arg2480=)
n.8946-3587T>C
 dbSNP ExAC gnomAD v2
5g.13780942A>TCA443259460DNAH5c.8838T>A (p.Arg2946=)
c.8793T>A (p.Arg2931=)
n.9028-3587T>A
c.8946T>A (p.Arg2982=)
c.7851T>A (p.Arg2617=)
c.4035T>A (p.Arg1345=)
c.3588T>A (p.Arg1196=)
c.2925T>A (p.Arg975=)
c.7440T>A (p.Arg2480=)
n.8946-3587T>A
5g.13780943C>ACA359212941DNAH5c.8837G>T (p.Arg2946Leu)
c.8792G>T (p.Arg2931Leu)
n.9028-3588G>T
c.8945G>T (p.Arg2982Leu)
c.7850G>T (p.Arg2617Leu)
c.4034G>T (p.Arg1345Leu)
c.3587G>T (p.Arg1196Leu)
c.2924G>T (p.Arg975Leu)
c.7439G>T (p.Arg2480Leu)
n.8946-3588G>T
 gnomAD v4
5g.13780943C=CA1528435897DNAH5c.8837G= (p.Arg2946=)
c.8792G= (p.Arg2931=)
n.9028-3588G=
c.8945G= (p.Arg2982=)
c.7850G= (p.Arg2617=)
c.4034G= (p.Arg1345=)
c.3587G= (p.Arg1196=)
c.2924G= (p.Arg975=)
c.7439G= (p.Arg2480=)
n.8946-3588G=
5g.13780943C>GCA359212944DNAH5c.8837G>C (p.Arg2946Pro)
c.8792G>C (p.Arg2931Pro)
n.9028-3588G>C
c.8945G>C (p.Arg2982Pro)
c.7850G>C (p.Arg2617Pro)
c.4034G>C (p.Arg1345Pro)
c.3587G>C (p.Arg1196Pro)
c.2924G>C (p.Arg975Pro)
c.7439G>C (p.Arg2480Pro)
n.8946-3588G>C
5g.13780943C>TCA3202696DNAH5c.8837G>A (p.Arg2946His)
c.8792G>A (p.Arg2931His)
n.9028-3588G>A
c.8945G>A (p.Arg2982His)
c.7850G>A (p.Arg2617His)
c.4034G>A (p.Arg1345His)
c.3587G>A (p.Arg1196His)
c.2924G>A (p.Arg975His)
c.7439G>A (p.Arg2480His)
n.8946-3588G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13780944G>ACA3202697DNAH5c.8836C>T (p.Arg2946Cys)
c.8791C>T (p.Arg2931Cys)
n.9028-3589C>T
c.8944C>T (p.Arg2982Cys)
c.7849C>T (p.Arg2617Cys)
c.4033C>T (p.Arg1345Cys)
c.3586C>T (p.Arg1196Cys)
c.2923C>T (p.Arg975Cys)
c.7438C>T (p.Arg2480Cys)
n.8946-3589C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13780944G>CCA359212946DNAH5c.8836C>G (p.Arg2946Gly)
c.8791C>G (p.Arg2931Gly)
n.9028-3589C>G
c.8944C>G (p.Arg2982Gly)
c.7849C>G (p.Arg2617Gly)
c.4033C>G (p.Arg1345Gly)
c.3586C>G (p.Arg1196Gly)
c.2923C>G (p.Arg975Gly)
c.7438C>G (p.Arg2480Gly)
n.8946-3589C>G
5g.13780944G=CA1528435898DNAH5c.8836C= (p.Arg2946=)
c.8791C= (p.Arg2931=)
n.9028-3589C=
c.8944C= (p.Arg2982=)
c.7849C= (p.Arg2617=)
c.4033C= (p.Arg1345=)
c.3586C= (p.Arg1196=)
c.2923C= (p.Arg975=)
c.7438C= (p.Arg2480=)
n.8946-3589C=
5g.13780944G>TCA359212948DNAH5c.8836C>A (p.Arg2946Ser)
c.8791C>A (p.Arg2931Ser)
n.9028-3589C>A
c.8944C>A (p.Arg2982Ser)
c.7849C>A (p.Arg2617Ser)
c.4033C>A (p.Arg1345Ser)
c.3586C>A (p.Arg1196Ser)
c.2923C>A (p.Arg975Ser)
c.7438C>A (p.Arg2480Ser)
n.8946-3589C>A
 gnomAD v4
5g.13780945A=CA1528435899DNAH5c.8835T= (p.Ile2945=)
c.8790T= (p.Ile2930=)
n.9028-3590T=
c.8943T= (p.Ile2981=)
c.7848T= (p.Ile2616=)
c.4032T= (p.Ile1344=)
c.3585T= (p.Ile1195=)
c.2922T= (p.Ile974=)
c.7437T= (p.Ile2479=)
n.8946-3590T=
5g.13780945A>CCA359212950DNAH5c.8835T>G (p.Ile2945Met)
c.8790T>G (p.Ile2930Met)
n.9028-3590T>G
c.8943T>G (p.Ile2981Met)
c.7848T>G (p.Ile2616Met)
c.4032T>G (p.Ile1344Met)
c.3585T>G (p.Ile1195Met)
c.2922T>G (p.Ile974Met)
c.7437T>G (p.Ile2479Met)
n.8946-3590T>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13780945A>GCA443259469DNAH5c.8835T>C (p.Ile2945=)
c.8790T>C (p.Ile2930=)
n.9028-3590T>C
c.8943T>C (p.Ile2981=)
c.7848T>C (p.Ile2616=)
c.4032T>C (p.Ile1344=)
c.3585T>C (p.Ile1195=)
c.2922T>C (p.Ile974=)
c.7437T>C (p.Ile2479=)
n.8946-3590T>C
5g.13780945A>TCA443259473DNAH5c.8835T>A (p.Ile2945=)
c.8790T>A (p.Ile2930=)
n.9028-3590T>A
c.8943T>A (p.Ile2981=)
c.7848T>A (p.Ile2616=)
c.4032T>A (p.Ile1344=)
c.3585T>A (p.Ile1195=)
c.2922T>A (p.Ile974=)
c.7437T>A (p.Ile2479=)
n.8946-3590T>A
5g.13780946A>CCA359212951DNAH5c.8834T>G (p.Ile2945Ser)
c.8789T>G (p.Ile2930Ser)
n.9028-3591T>G
c.8942T>G (p.Ile2981Ser)
c.7847T>G (p.Ile2616Ser)
c.4031T>G (p.Ile1344Ser)
c.3584T>G (p.Ile1195Ser)
c.2921T>G (p.Ile974Ser)
c.7436T>G (p.Ile2479Ser)
n.8946-3591T>G
 gnomAD v4
5g.13780946A>GCA359212953DNAH5c.8834T>C (p.Ile2945Thr)
c.8789T>C (p.Ile2930Thr)
n.9028-3591T>C
c.8942T>C (p.Ile2981Thr)
c.7847T>C (p.Ile2616Thr)
c.4031T>C (p.Ile1344Thr)
c.3584T>C (p.Ile1195Thr)
c.2921T>C (p.Ile974Thr)
c.7436T>C (p.Ile2479Thr)
n.8946-3591T>C
5g.13780946A>TCA359212954DNAH5c.8834T>A (p.Ile2945Asn)
c.8789T>A (p.Ile2930Asn)
n.9028-3591T>A
c.8942T>A (p.Ile2981Asn)
c.7847T>A (p.Ile2616Asn)
c.4031T>A (p.Ile1344Asn)
c.3584T>A (p.Ile1195Asn)
c.2921T>A (p.Ile974Asn)
c.7436T>A (p.Ile2479Asn)
n.8946-3591T>A
5g.13780947T>ACA359212956DNAH5c.8833A>T (p.Ile2945Phe)
c.8788A>T (p.Ile2930Phe)
n.9028-3592A>T
c.8941A>T (p.Ile2981Phe)
c.7846A>T (p.Ile2616Phe)
c.4030A>T (p.Ile1344Phe)
c.3583A>T (p.Ile1195Phe)
c.2920A>T (p.Ile974Phe)
c.7435A>T (p.Ile2479Phe)
n.8946-3592A>T
5g.13780947T>CCA359212957DNAH5c.8833A>G (p.Ile2945Val)
c.8788A>G (p.Ile2930Val)
n.9028-3592A>G
c.8941A>G (p.Ile2981Val)
c.7846A>G (p.Ile2616Val)
c.4030A>G (p.Ile1344Val)
c.3583A>G (p.Ile1195Val)
c.2920A>G (p.Ile974Val)
c.7435A>G (p.Ile2479Val)
n.8946-3592A>G
5g.13780947T>GCA359212958DNAH5c.8833A>C (p.Ile2945Leu)
c.8788A>C (p.Ile2930Leu)
n.9028-3592A>C
c.8941A>C (p.Ile2981Leu)
c.7846A>C (p.Ile2616Leu)
c.4030A>C (p.Ile1344Leu)
c.3583A>C (p.Ile1195Leu)
c.2920A>C (p.Ile974Leu)
c.7435A>C (p.Ile2479Leu)
n.8946-3592A>C
5g.13780948G>ACA443259482DNAH5c.8832C>T (p.Val2944=)
c.8787C>T (p.Val2929=)
n.9028-3593C>T
c.8940C>T (p.Val2980=)
c.7845C>T (p.Val2615=)
c.4029C>T (p.Val1343=)
c.3582C>T (p.Val1194=)
c.2919C>T (p.Val973=)
c.7434C>T (p.Val2478=)
n.8946-3593C>T
 ClinVar dbSNP gnomAD v2
5g.13780948G>CCA443259484DNAH5c.8832C>G (p.Val2944=)
c.8787C>G (p.Val2929=)
n.9028-3593C>G
c.8940C>G (p.Val2980=)
c.7845C>G (p.Val2615=)
c.4029C>G (p.Val1343=)
c.3582C>G (p.Val1194=)
c.2919C>G (p.Val973=)
c.7434C>G (p.Val2478=)
n.8946-3593C>G
5g.13780948G=CA1528435900DNAH5c.8832C= (p.Val2944=)
c.8787C= (p.Val2929=)
n.9028-3593C=
c.8940C= (p.Val2980=)
c.7845C= (p.Val2615=)
c.4029C= (p.Val1343=)
c.3582C= (p.Val1194=)
c.2919C= (p.Val973=)
c.7434C= (p.Val2478=)
n.8946-3593C=
5g.13780948G>TCA443259486DNAH5c.8832C>A (p.Val2944=)
c.8787C>A (p.Val2929=)
n.9028-3593C>A
c.8940C>A (p.Val2980=)
c.7845C>A (p.Val2615=)
c.4029C>A (p.Val1343=)
c.3582C>A (p.Val1194=)
c.2919C>A (p.Val973=)
c.7434C>A (p.Val2478=)
n.8946-3593C>A
5g.13780949A=CA1528435901DNAH5c.8831T= (p.Val2944=)
c.8786T= (p.Val2929=)
n.9028-3594T=
c.8939T= (p.Val2980=)
c.7844T= (p.Val2615=)
c.4028T= (p.Val1343=)
c.3581T= (p.Val1194=)
c.2918T= (p.Val973=)
c.7433T= (p.Val2478=)
n.8946-3594T=
5g.13780949A>CCA359212963DNAH5c.8831T>G (p.Val2944Gly)
c.8786T>G (p.Val2929Gly)
n.9028-3594T>G
c.8939T>G (p.Val2980Gly)
c.7844T>G (p.Val2615Gly)
c.4028T>G (p.Val1343Gly)
c.3581T>G (p.Val1194Gly)
c.2918T>G (p.Val973Gly)
c.7433T>G (p.Val2478Gly)
n.8946-3594T>G
5g.13780949A>GCA113949036DNAH5c.8831T>C (p.Val2944Ala)
c.8786T>C (p.Val2929Ala)
n.9028-3594T>C
c.8939T>C (p.Val2980Ala)
c.7844T>C (p.Val2615Ala)
c.4028T>C (p.Val1343Ala)
c.3581T>C (p.Val1194Ala)
c.2918T>C (p.Val973Ala)
c.7433T>C (p.Val2478Ala)
n.8946-3594T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.13780949A>TCA359212961DNAH5c.8831T>A (p.Val2944Asp)
c.8786T>A (p.Val2929Asp)
n.9028-3594T>A
c.8939T>A (p.Val2980Asp)
c.7844T>A (p.Val2615Asp)
c.4028T>A (p.Val1343Asp)
c.3581T>A (p.Val1194Asp)
c.2918T>A (p.Val973Asp)
c.7433T>A (p.Val2478Asp)
n.8946-3594T>A
5g.13780950C>ACA359212964DNAH5c.8830G>T (p.Val2944Phe)
c.8785G>T (p.Val2929Phe)
n.9028-3595G>T
c.8938G>T (p.Val2980Phe)
c.7843G>T (p.Val2615Phe)
c.4027G>T (p.Val1343Phe)
c.3580G>T (p.Val1194Phe)
c.2917G>T (p.Val973Phe)
c.7432G>T (p.Val2478Phe)
n.8946-3595G>T
 gnomAD v4
5g.13780950C>GCA359212965DNAH5c.8830G>C (p.Val2944Leu)
c.8785G>C (p.Val2929Leu)
n.9028-3595G>C
c.8938G>C (p.Val2980Leu)
c.7843G>C (p.Val2615Leu)
c.4027G>C (p.Val1343Leu)
c.3580G>C (p.Val1194Leu)
c.2917G>C (p.Val973Leu)
c.7432G>C (p.Val2478Leu)
n.8946-3595G>C
5g.13780950C>TCA359212967DNAH5c.8830G>A (p.Val2944Ile)
c.8785G>A (p.Val2929Ile)
n.9028-3595G>A
c.8938G>A (p.Val2980Ile)
c.7843G>A (p.Val2615Ile)
c.4027G>A (p.Val1343Ile)
c.3580G>A (p.Val1194Ile)
c.2917G>A (p.Val973Ile)
c.7432G>A (p.Val2478Ile)
n.8946-3595G>A
 gnomAD v4
5g.13780951A>CCA443259494DNAH5c.8829T>G (p.Arg2943=)
c.8784T>G (p.Arg2928=)
n.9028-3596T>G
c.8937T>G (p.Arg2979=)
c.7842T>G (p.Arg2614=)
c.4026T>G (p.Arg1342=)
c.3579T>G (p.Arg1193=)
c.2916T>G (p.Arg972=)
c.7431T>G (p.Arg2477=)
n.8946-3596T>G
5g.13780951A>GCA443259495DNAH5c.8829T>C (p.Arg2943=)
c.8784T>C (p.Arg2928=)
n.9028-3596T>C
c.8937T>C (p.Arg2979=)
c.7842T>C (p.Arg2614=)
c.4026T>C (p.Arg1342=)
c.3579T>C (p.Arg1193=)
c.2916T>C (p.Arg972=)
c.7431T>C (p.Arg2477=)
n.8946-3596T>C
5g.13780951A>TCA443259497DNAH5c.8829T>A (p.Arg2943=)
c.8784T>A (p.Arg2928=)
n.9028-3596T>A
c.8937T>A (p.Arg2979=)
c.7842T>A (p.Arg2614=)
c.4026T>A (p.Arg1342=)
c.3579T>A (p.Arg1193=)
c.2916T>A (p.Arg972=)
c.7431T>A (p.Arg2477=)
n.8946-3596T>A
5g.13780952C>ACA359212969DNAH5c.8828G>T (p.Arg2943Leu)
c.8783G>T (p.Arg2928Leu)
n.9028-3597G>T
c.8936G>T (p.Arg2979Leu)
c.7841G>T (p.Arg2614Leu)
c.4025G>T (p.Arg1342Leu)
c.3578G>T (p.Arg1193Leu)
c.2915G>T (p.Arg972Leu)
c.7430G>T (p.Arg2477Leu)
n.8946-3597G>T
 dbSNP gnomAD v4
5g.13780952C=CA1528435902DNAH5c.8828G= (p.Arg2943=)
c.8783G= (p.Arg2928=)
n.9028-3597G=
c.8936G= (p.Arg2979=)
c.7841G= (p.Arg2614=)
c.4025G= (p.Arg1342=)
c.3578G= (p.Arg1193=)
c.2915G= (p.Arg972=)
c.7430G= (p.Arg2477=)
n.8946-3597G=
5g.13780952C>GCA359212970DNAH5c.8828G>C (p.Arg2943Pro)
c.8783G>C (p.Arg2928Pro)
n.9028-3597G>C
c.8936G>C (p.Arg2979Pro)
c.7841G>C (p.Arg2614Pro)
c.4025G>C (p.Arg1342Pro)
c.3578G>C (p.Arg1193Pro)
c.2915G>C (p.Arg972Pro)
c.7430G>C (p.Arg2477Pro)
n.8946-3597G>C
5g.13780952C>TCA3202698DNAH5c.8828G>A (p.Arg2943His)
c.8783G>A (p.Arg2928His)
n.9028-3597G>A
c.8936G>A (p.Arg2979His)
c.7841G>A (p.Arg2614His)
c.4025G>A (p.Arg1342His)
c.3578G>A (p.Arg1193His)
c.2915G>A (p.Arg972His)
c.7430G>A (p.Arg2477His)
n.8946-3597G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC

Number of alleles fetched