Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.13776517C>A | CA359208361 | DNAH5 | c.9295G>T (p.Ala3099Ser) c.9250G>T (p.Ala3084Ser) c.9403G>T (p.Ala3135Ser) c.8308G>T (p.Ala2770Ser) c.4492G>T (p.Ala1498Ser) c.4045G>T (p.Ala1349Ser) c.3382G>T (p.Ala1128Ser) c.7897G>T (p.Ala2633Ser) | |
5 | g.13776517C= | CA1528435109 | DNAH5 | c.9295G= (p.Ala3099=) c.9250G= (p.Ala3084=) c.9403G= (p.Ala3135=) c.8308G= (p.Ala2770=) c.4492G= (p.Ala1498=) c.4045G= (p.Ala1349=) c.3382G= (p.Ala1128=) c.7897G= (p.Ala2633=) | |
5 | g.13776517C>G | CA359208369 | DNAH5 | c.9295G>C (p.Ala3099Pro) c.9250G>C (p.Ala3084Pro) c.9403G>C (p.Ala3135Pro) c.8308G>C (p.Ala2770Pro) c.4492G>C (p.Ala1498Pro) c.4045G>C (p.Ala1349Pro) c.3382G>C (p.Ala1128Pro) c.7897G>C (p.Ala2633Pro) | |
5 | g.13776517C>T | CA359208372 | DNAH5 | c.9295G>A (p.Ala3099Thr) c.9250G>A (p.Ala3084Thr) c.9403G>A (p.Ala3135Thr) c.8308G>A (p.Ala2770Thr) c.4492G>A (p.Ala1498Thr) c.4045G>A (p.Ala1349Thr) c.3382G>A (p.Ala1128Thr) c.7897G>A (p.Ala2633Thr) | dbSNP |
5 | g.13776519_13776520del | CA645540999 | DNAH5 | c.9294_9295del (p.Arg3098SerfsTer14) c.9249_9250del (p.Arg3083SerfsTer14) c.9402_9403del (p.Arg3134SerfsTer14) c.8307_8308del (p.Arg2769SerfsTer14) c.4491_4492del (p.Arg1497SerfsTer14) c.4044_4045del (p.Arg1348SerfsTer14) c.3381_3382del (p.Arg1127SerfsTer14) c.7896_7897del (p.Arg2632SerfsTer14) | COSMIC |
5 | g.13776518T>A | CA359208380 | DNAH5 | c.9294A>T (p.Arg3098Ser) c.9249A>T (p.Arg3083Ser) c.9402A>T (p.Arg3134Ser) c.8307A>T (p.Arg2769Ser) c.4491A>T (p.Arg1497Ser) c.4044A>T (p.Arg1348Ser) c.3381A>T (p.Arg1127Ser) c.7896A>T (p.Arg2632Ser) | |
5 | g.13776518T>C | CA443535793 | DNAH5 | c.9294A>G (p.Arg3098=) c.9249A>G (p.Arg3083=) c.9402A>G (p.Arg3134=) c.8307A>G (p.Arg2769=) c.4491A>G (p.Arg1497=) c.4044A>G (p.Arg1348=) c.3381A>G (p.Arg1127=) c.7896A>G (p.Arg2632=) | |
5 | g.13776518T>G | CA359208391 | DNAH5 | c.9294A>C (p.Arg3098Ser) c.9249A>C (p.Arg3083Ser) c.9402A>C (p.Arg3134Ser) c.8307A>C (p.Arg2769Ser) c.4491A>C (p.Arg1497Ser) c.4044A>C (p.Arg1348Ser) c.3381A>C (p.Arg1127Ser) c.7896A>C (p.Arg2632Ser) | |
5 | g.13776519C>A | CA359208394 | DNAH5 | c.9293G>T (p.Arg3098Ile) c.9248G>T (p.Arg3083Ile) c.9401G>T (p.Arg3134Ile) c.8306G>T (p.Arg2769Ile) c.4490G>T (p.Arg1497Ile) c.4043G>T (p.Arg1348Ile) c.3380G>T (p.Arg1127Ile) c.7895G>T (p.Arg2632Ile) | |
5 | g.13776519C>G | CA359208405 | DNAH5 | c.9293G>C (p.Arg3098Thr) c.9248G>C (p.Arg3083Thr) c.9401G>C (p.Arg3134Thr) c.8306G>C (p.Arg2769Thr) c.4490G>C (p.Arg1497Thr) c.4043G>C (p.Arg1348Thr) c.3380G>C (p.Arg1127Thr) c.7895G>C (p.Arg2632Thr) | |
5 | g.13776519C>T | CA359208408 | DNAH5 | c.9293G>A (p.Arg3098Lys) c.9248G>A (p.Arg3083Lys) c.9401G>A (p.Arg3134Lys) c.8306G>A (p.Arg2769Lys) c.4490G>A (p.Arg1497Lys) c.4043G>A (p.Arg1348Lys) c.3380G>A (p.Arg1127Lys) c.7895G>A (p.Arg2632Lys) | COSMIC |
5 | g.13776520T>A | CA359208415 | DNAH5 | c.9292A>T (p.Arg3098Ter) c.9247A>T (p.Arg3083Ter) c.9400A>T (p.Arg3134Ter) c.8305A>T (p.Arg2769Ter) c.4489A>T (p.Arg1497Ter) c.4042A>T (p.Arg1348Ter) c.3379A>T (p.Arg1127Ter) c.7894A>T (p.Arg2632Ter) | ClinVar |
5 | g.13776520T>C | CA359208414 | DNAH5 | c.9292A>G (p.Arg3098Gly) c.9247A>G (p.Arg3083Gly) c.9400A>G (p.Arg3134Gly) c.8305A>G (p.Arg2769Gly) c.4489A>G (p.Arg1497Gly) c.4042A>G (p.Arg1348Gly) c.3379A>G (p.Arg1127Gly) c.7894A>G (p.Arg2632Gly) | |
5 | g.13776520T>G | CA443535799 | DNAH5 | c.9292A>C (p.Arg3098=) c.9247A>C (p.Arg3083=) c.9400A>C (p.Arg3134=) c.8305A>C (p.Arg2769=) c.4489A>C (p.Arg1497=) c.4042A>C (p.Arg1348=) c.3379A>C (p.Arg1127=) c.7894A>C (p.Arg2632=) | |
5 | g.13776521G>A | CA443535800 | DNAH5 | c.9291C>T (p.Asn3097=) c.9246C>T (p.Asn3082=) c.9399C>T (p.Asn3133=) c.8304C>T (p.Asn2768=) c.4488C>T (p.Asn1496=) c.4041C>T (p.Asn1347=) c.3378C>T (p.Asn1126=) c.7893C>T (p.Asn2631=) | ClinVar dbSNP |
5 | g.13776521G>C | CA359208419 | DNAH5 | c.9291C>G (p.Asn3097Lys) c.9246C>G (p.Asn3082Lys) c.9399C>G (p.Asn3133Lys) c.8304C>G (p.Asn2768Lys) c.4488C>G (p.Asn1496Lys) c.4041C>G (p.Asn1347Lys) c.3378C>G (p.Asn1126Lys) c.7893C>G (p.Asn2631Lys) | |
5 | g.13776521G>T | CA359208420 | DNAH5 | c.9291C>A (p.Asn3097Lys) c.9246C>A (p.Asn3082Lys) c.9399C>A (p.Asn3133Lys) c.8304C>A (p.Asn2768Lys) c.4488C>A (p.Asn1496Lys) c.4041C>A (p.Asn1347Lys) c.3378C>A (p.Asn1126Lys) c.7893C>A (p.Asn2631Lys) | |
5 | g.13776522T>A | CA359208423 | DNAH5 | c.9290A>T (p.Asn3097Ile) c.9245A>T (p.Asn3082Ile) c.9398A>T (p.Asn3133Ile) c.8303A>T (p.Asn2768Ile) c.4487A>T (p.Asn1496Ile) c.4040A>T (p.Asn1347Ile) c.3377A>T (p.Asn1126Ile) c.7892A>T (p.Asn2631Ile) | |
5 | g.13776522T>C | CA359208428 | DNAH5 | c.9290A>G (p.Asn3097Ser) c.9245A>G (p.Asn3082Ser) c.9398A>G (p.Asn3133Ser) c.8303A>G (p.Asn2768Ser) c.4487A>G (p.Asn1496Ser) c.4040A>G (p.Asn1347Ser) c.3377A>G (p.Asn1126Ser) c.7892A>G (p.Asn2631Ser) | |
5 | g.13776522T>G | CA359208437 | DNAH5 | c.9290A>C (p.Asn3097Thr) c.9245A>C (p.Asn3082Thr) c.9398A>C (p.Asn3133Thr) c.8303A>C (p.Asn2768Thr) c.4487A>C (p.Asn1496Thr) c.4040A>C (p.Asn1347Thr) c.3377A>C (p.Asn1126Thr) c.7892A>C (p.Asn2631Thr) | |
5 | g.13776523T>A | CA359208449 | DNAH5 | c.9289A>T (p.Asn3097Tyr) c.9244A>T (p.Asn3082Tyr) c.9397A>T (p.Asn3133Tyr) c.8302A>T (p.Asn2768Tyr) c.4486A>T (p.Asn1496Tyr) c.4039A>T (p.Asn1347Tyr) c.3376A>T (p.Asn1126Tyr) c.7891A>T (p.Asn2631Tyr) | |
5 | g.13776523T>C | CA359208455 | DNAH5 | c.9289A>G (p.Asn3097Asp) c.9244A>G (p.Asn3082Asp) c.9397A>G (p.Asn3133Asp) c.8302A>G (p.Asn2768Asp) c.4486A>G (p.Asn1496Asp) c.4039A>G (p.Asn1347Asp) c.3376A>G (p.Asn1126Asp) c.7891A>G (p.Asn2631Asp) | |
5 | g.13776523T>G | CA359208457 | DNAH5 | c.9289A>C (p.Asn3097His) c.9244A>C (p.Asn3082His) c.9397A>C (p.Asn3133His) c.8302A>C (p.Asn2768His) c.4486A>C (p.Asn1496His) c.4039A>C (p.Asn1347His) c.3376A>C (p.Asn1126His) c.7891A>C (p.Asn2631His) | |
5 | g.13776524T>A | CA443535802 | DNAH5 | c.9288A>T (p.Arg3096=) c.9243A>T (p.Arg3081=) c.9396A>T (p.Arg3132=) c.8301A>T (p.Arg2767=) c.4485A>T (p.Arg1495=) c.4038A>T (p.Arg1346=) c.3375A>T (p.Arg1125=) c.7890A>T (p.Arg2630=) | |
5 | g.13776524T>C | CA443535803 | DNAH5 | c.9288A>G (p.Arg3096=) c.9243A>G (p.Arg3081=) c.9396A>G (p.Arg3132=) c.8301A>G (p.Arg2767=) c.4485A>G (p.Arg1495=) c.4038A>G (p.Arg1346=) c.3375A>G (p.Arg1125=) c.7890A>G (p.Arg2630=) | |
5 | g.13776524T>G | CA443535804 | DNAH5 | c.9288A>C (p.Arg3096=) c.9243A>C (p.Arg3081=) c.9396A>C (p.Arg3132=) c.8301A>C (p.Arg2767=) c.4485A>C (p.Arg1495=) c.4038A>C (p.Arg1346=) c.3375A>C (p.Arg1125=) c.7890A>C (p.Arg2630=) | |
5 | g.13776525C>A | CA359208460 | DNAH5 | c.9287G>T (p.Arg3096Leu) c.9242G>T (p.Arg3081Leu) c.9395G>T (p.Arg3132Leu) c.8300G>T (p.Arg2767Leu) c.4484G>T (p.Arg1495Leu) c.4037G>T (p.Arg1346Leu) c.3374G>T (p.Arg1125Leu) c.7889G>T (p.Arg2630Leu) | gnomAD v4 |
5 | g.13776525C= | CA1528435112 | DNAH5 | c.9287G= (p.Arg3096=) c.9242G= (p.Arg3081=) c.9395G= (p.Arg3132=) c.8300G= (p.Arg2767=) c.4484G= (p.Arg1495=) c.4037G= (p.Arg1346=) c.3374G= (p.Arg1125=) c.7889G= (p.Arg2630=) | |
5 | g.13776525C>G | CA359208461 | DNAH5 | c.9287G>C (p.Arg3096Pro) c.9242G>C (p.Arg3081Pro) c.9395G>C (p.Arg3132Pro) c.8300G>C (p.Arg2767Pro) c.4484G>C (p.Arg1495Pro) c.4037G>C (p.Arg1346Pro) c.3374G>C (p.Arg1125Pro) c.7889G>C (p.Arg2630Pro) | |
5 | g.13776525C>T | CA359208463 | DNAH5 | c.9287G>A (p.Arg3096Gln) c.9242G>A (p.Arg3081Gln) c.9395G>A (p.Arg3132Gln) c.8300G>A (p.Arg2767Gln) c.4484G>A (p.Arg1495Gln) c.4037G>A (p.Arg1346Gln) c.3374G>A (p.Arg1125Gln) c.7889G>A (p.Arg2630Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13776526G>A | CA113937662 | DNAH5 | c.9286C>T (p.Arg3096Ter) c.9241C>T (p.Arg3081Ter) c.9394C>T (p.Arg3132Ter) c.8299C>T (p.Arg2767Ter) c.4483C>T (p.Arg1495Ter) c.4036C>T (p.Arg1346Ter) c.3373C>T (p.Arg1125Ter) c.7888C>T (p.Arg2630Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13776526G>C | CA359208468 | DNAH5 | c.9286C>G (p.Arg3096Gly) c.9241C>G (p.Arg3081Gly) c.9394C>G (p.Arg3132Gly) c.8299C>G (p.Arg2767Gly) c.4483C>G (p.Arg1495Gly) c.4036C>G (p.Arg1346Gly) c.3373C>G (p.Arg1125Gly) c.7888C>G (p.Arg2630Gly) | |
5 | g.13776526G= | CA1528435117 | DNAH5 | c.9286C= (p.Arg3096=) c.9241C= (p.Arg3081=) c.9394C= (p.Arg3132=) c.8299C= (p.Arg2767=) c.4483C= (p.Arg1495=) c.4036C= (p.Arg1346=) c.3373C= (p.Arg1125=) c.7888C= (p.Arg2630=) | |
5 | g.13776526G>T | CA443535812 | DNAH5 | c.9286C>A (p.Arg3096=) c.9241C>A (p.Arg3081=) c.9394C>A (p.Arg3132=) c.8299C>A (p.Arg2767=) c.4483C>A (p.Arg1495=) c.4036C>A (p.Arg1346=) c.3373C>A (p.Arg1125=) c.7888C>A (p.Arg2630=) | ClinVar |
5 | g.13776527A>C | CA359208475 | DNAH5 | c.9285T>G (p.Phe3095Leu) c.9240T>G (p.Phe3080Leu) c.9393T>G (p.Phe3131Leu) c.8298T>G (p.Phe2766Leu) c.4482T>G (p.Phe1494Leu) c.4035T>G (p.Phe1345Leu) c.3372T>G (p.Phe1124Leu) c.7887T>G (p.Phe2629Leu) | |
5 | g.13776527A>G | CA443535813 | DNAH5 | c.9285T>C (p.Phe3095=) c.9240T>C (p.Phe3080=) c.9393T>C (p.Phe3131=) c.8298T>C (p.Phe2766=) c.4482T>C (p.Phe1494=) c.4035T>C (p.Phe1345=) c.3372T>C (p.Phe1124=) c.7887T>C (p.Phe2629=) | |
5 | g.13776527A>T | CA359208478 | DNAH5 | c.9285T>A (p.Phe3095Leu) c.9240T>A (p.Phe3080Leu) c.9393T>A (p.Phe3131Leu) c.8298T>A (p.Phe2766Leu) c.4482T>A (p.Phe1494Leu) c.4035T>A (p.Phe1345Leu) c.3372T>A (p.Phe1124Leu) c.7887T>A (p.Phe2629Leu) | |
5 | g.13776528A>C | CA359208495 | DNAH5 | c.9284T>G (p.Phe3095Cys) c.9239T>G (p.Phe3080Cys) c.9392T>G (p.Phe3131Cys) c.8297T>G (p.Phe2766Cys) c.4481T>G (p.Phe1494Cys) c.4034T>G (p.Phe1345Cys) c.3371T>G (p.Phe1124Cys) c.7886T>G (p.Phe2629Cys) | |
5 | g.13776528A>G | CA359208500 | DNAH5 | c.9284T>C (p.Phe3095Ser) c.9239T>C (p.Phe3080Ser) c.9392T>C (p.Phe3131Ser) c.8297T>C (p.Phe2766Ser) c.4481T>C (p.Phe1494Ser) c.4034T>C (p.Phe1345Ser) c.3371T>C (p.Phe1124Ser) c.7886T>C (p.Phe2629Ser) | |
5 | g.13776528A>T | CA359208496 | DNAH5 | c.9284T>A (p.Phe3095Tyr) c.9239T>A (p.Phe3080Tyr) c.9392T>A (p.Phe3131Tyr) c.8297T>A (p.Phe2766Tyr) c.4481T>A (p.Phe1494Tyr) c.4034T>A (p.Phe1345Tyr) c.3371T>A (p.Phe1124Tyr) c.7886T>A (p.Phe2629Tyr) | |
5 | g.13776529A>C | CA359208501 | DNAH5 | c.9283T>G (p.Phe3095Val) c.9238T>G (p.Phe3080Val) c.9391T>G (p.Phe3131Val) c.8296T>G (p.Phe2766Val) c.4480T>G (p.Phe1494Val) c.4033T>G (p.Phe1345Val) c.3370T>G (p.Phe1124Val) c.7885T>G (p.Phe2629Val) | |
5 | g.13776529A>G | CA359208507 | DNAH5 | c.9283T>C (p.Phe3095Leu) c.9238T>C (p.Phe3080Leu) c.9391T>C (p.Phe3131Leu) c.8296T>C (p.Phe2766Leu) c.4480T>C (p.Phe1494Leu) c.4033T>C (p.Phe1345Leu) c.3370T>C (p.Phe1124Leu) c.7885T>C (p.Phe2629Leu) | |
5 | g.13776529A>T | CA359208502 | DNAH5 | c.9283T>A (p.Phe3095Ile) c.9238T>A (p.Phe3080Ile) c.9391T>A (p.Phe3131Ile) c.8296T>A (p.Phe2766Ile) c.4480T>A (p.Phe1494Ile) c.4033T>A (p.Phe1345Ile) c.3370T>A (p.Phe1124Ile) c.7885T>A (p.Phe2629Ile) | |
5 | g.13776530T>A | CA359208510 | DNAH5 | c.9282A>T (p.Lys3094Asn) c.9237A>T (p.Lys3079Asn) c.9390A>T (p.Lys3130Asn) c.8295A>T (p.Lys2765Asn) c.4479A>T (p.Lys1493Asn) c.4032A>T (p.Lys1344Asn) c.3369A>T (p.Lys1123Asn) c.7884A>T (p.Lys2628Asn) | |
5 | g.13776530T>C | CA443535822 | DNAH5 | c.9282A>G (p.Lys3094=) c.9237A>G (p.Lys3079=) c.9390A>G (p.Lys3130=) c.8295A>G (p.Lys2765=) c.4479A>G (p.Lys1493=) c.4032A>G (p.Lys1344=) c.3369A>G (p.Lys1123=) c.7884A>G (p.Lys2628=) | |
5 | g.13776530T>G | CA359208515 | DNAH5 | c.9282A>C (p.Lys3094Asn) c.9237A>C (p.Lys3079Asn) c.9390A>C (p.Lys3130Asn) c.8295A>C (p.Lys2765Asn) c.4479A>C (p.Lys1493Asn) c.4032A>C (p.Lys1344Asn) c.3369A>C (p.Lys1123Asn) c.7884A>C (p.Lys2628Asn) | |
5 | g.13776531T>A | CA359208518 | DNAH5 | c.9281A>T (p.Lys3094Ile) c.9236A>T (p.Lys3079Ile) c.9389A>T (p.Lys3130Ile) c.8294A>T (p.Lys2765Ile) c.4478A>T (p.Lys1493Ile) c.4031A>T (p.Lys1344Ile) c.3368A>T (p.Lys1123Ile) c.7883A>T (p.Lys2628Ile) | |
5 | g.13776531T>C | CA359208536 | DNAH5 | c.9281A>G (p.Lys3094Arg) c.9236A>G (p.Lys3079Arg) c.9389A>G (p.Lys3130Arg) c.8294A>G (p.Lys2765Arg) c.4478A>G (p.Lys1493Arg) c.4031A>G (p.Lys1344Arg) c.3368A>G (p.Lys1123Arg) c.7883A>G (p.Lys2628Arg) | |
5 | g.13776531T>G | CA359208530 | DNAH5 | c.9281A>C (p.Lys3094Thr) c.9236A>C (p.Lys3079Thr) c.9389A>C (p.Lys3130Thr) c.8294A>C (p.Lys2765Thr) c.4478A>C (p.Lys1493Thr) c.4031A>C (p.Lys1344Thr) c.3368A>C (p.Lys1123Thr) c.7883A>C (p.Lys2628Thr) | COSMIC |
5 | g.13776532T>A | CA359208558 | DNAH5 | c.9280A>T (p.Lys3094Ter) c.9235A>T (p.Lys3079Ter) c.9388A>T (p.Lys3130Ter) c.8293A>T (p.Lys2765Ter) c.4477A>T (p.Lys1493Ter) c.4030A>T (p.Lys1344Ter) c.3367A>T (p.Lys1123Ter) c.7882A>T (p.Lys2628Ter) | ClinVar dbSNP |
5 | g.13776532T>C | CA359208564 | DNAH5 | c.9280A>G (p.Lys3094Glu) c.9235A>G (p.Lys3079Glu) c.9388A>G (p.Lys3130Glu) c.8293A>G (p.Lys2765Glu) c.4477A>G (p.Lys1493Glu) c.4030A>G (p.Lys1344Glu) c.3367A>G (p.Lys1123Glu) c.7882A>G (p.Lys2628Glu) | |
5 | g.13776532T>G | CA359208566 | DNAH5 | c.9280A>C (p.Lys3094Gln) c.9235A>C (p.Lys3079Gln) c.9388A>C (p.Lys3130Gln) c.8293A>C (p.Lys2765Gln) c.4477A>C (p.Lys1493Gln) c.4030A>C (p.Lys1344Gln) c.3367A>C (p.Lys1123Gln) c.7882A>C (p.Lys2628Gln) | |
5 | g.13776533C>A | CA359208570 | DNAH5 | c.9279G>T (p.Glu3093Asp) c.9234G>T (p.Glu3078Asp) c.9387G>T (p.Glu3129Asp) c.8292G>T (p.Glu2764Asp) c.4476G>T (p.Glu1492Asp) c.4029G>T (p.Glu1343Asp) c.3366G>T (p.Glu1122Asp) c.7881G>T (p.Glu2627Asp) | COSMIC |
5 | g.13776533C>G | CA359208572 | DNAH5 | c.9279G>C (p.Glu3093Asp) c.9234G>C (p.Glu3078Asp) c.9387G>C (p.Glu3129Asp) c.8292G>C (p.Glu2764Asp) c.4476G>C (p.Glu1492Asp) c.4029G>C (p.Glu1343Asp) c.3366G>C (p.Glu1122Asp) c.7881G>C (p.Glu2627Asp) | |
5 | g.13776533C>T | CA443535833 | DNAH5 | c.9279G>A (p.Glu3093=) c.9234G>A (p.Glu3078=) c.9387G>A (p.Glu3129=) c.8292G>A (p.Glu2764=) c.4476G>A (p.Glu1492=) c.4029G>A (p.Glu1343=) c.3366G>A (p.Glu1122=) c.7881G>A (p.Glu2627=) | ClinVar dbSNP |
5 | g.13776533_13776534delinsCT | CA1528435119 | DNAH5 | c.9278_9279delinsAG (p.Glu3093=) c.9233_9234delinsAG (p.Glu3078=) c.9386_9387delinsAG (p.Glu3129=) c.8291_8292delinsAG (p.Glu2764=) c.4475_4476delinsAG (p.Glu1492=) c.4028_4029delinsAG (p.Glu1343=) c.3365_3366delinsAG (p.Glu1122=) c.7880_7881delinsAG (p.Glu2627=) | |
5 | g.13776534del | CA1073394354 | DNAH5 | c.9278del (p.Glu3093GlyfsTer8) c.9233del (p.Glu3078GlyfsTer8) c.9386del (p.Glu3129GlyfsTer8) c.8291del (p.Glu2764GlyfsTer8) c.4475del (p.Glu1492GlyfsTer8) c.4028del (p.Glu1343GlyfsTer8) c.3365del (p.Glu1122GlyfsTer8) c.7880del (p.Glu2627GlyfsTer8) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13776534T>A | CA359208573 | DNAH5 | c.9278A>T (p.Glu3093Val) c.9233A>T (p.Glu3078Val) c.9386A>T (p.Glu3129Val) c.8291A>T (p.Glu2764Val) c.4475A>T (p.Glu1492Val) c.4028A>T (p.Glu1343Val) c.3365A>T (p.Glu1122Val) c.7880A>T (p.Glu2627Val) | |
5 | g.13776534T>C | CA359208574 | DNAH5 | c.9278A>G (p.Glu3093Gly) c.9233A>G (p.Glu3078Gly) c.9386A>G (p.Glu3129Gly) c.8291A>G (p.Glu2764Gly) c.4475A>G (p.Glu1492Gly) c.4028A>G (p.Glu1343Gly) c.3365A>G (p.Glu1122Gly) c.7880A>G (p.Glu2627Gly) | |
5 | g.13776534T>G | CA359208575 | DNAH5 | c.9278A>C (p.Glu3093Ala) c.9233A>C (p.Glu3078Ala) c.9386A>C (p.Glu3129Ala) c.8291A>C (p.Glu2764Ala) c.4475A>C (p.Glu1492Ala) c.4028A>C (p.Glu1343Ala) c.3365A>C (p.Glu1122Ala) c.7880A>C (p.Glu2627Ala) | |
5 | g.13776534T= | CA1528435122 | DNAH5 | c.9278A= (p.Glu3093=) c.9233A= (p.Glu3078=) c.9386A= (p.Glu3129=) c.8291A= (p.Glu2764=) c.4475A= (p.Glu1492=) c.4028A= (p.Glu1343=) c.3365A= (p.Glu1122=) c.7880A= (p.Glu2627=) | |
5 | g.13776535C>A | CA359208576 | DNAH5 | c.9277G>T (p.Glu3093Ter) c.9232G>T (p.Glu3078Ter) c.9385G>T (p.Glu3129Ter) c.8290G>T (p.Glu2764Ter) c.4474G>T (p.Glu1492Ter) c.4027G>T (p.Glu1343Ter) c.3364G>T (p.Glu1122Ter) c.7879G>T (p.Glu2627Ter) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13776535C= | CA1528435126 | DNAH5 | c.9277G= (p.Glu3093=) c.9232G= (p.Glu3078=) c.9385G= (p.Glu3129=) c.8290G= (p.Glu2764=) c.4474G= (p.Glu1492=) c.4027G= (p.Glu1343=) c.3364G= (p.Glu1122=) c.7879G= (p.Glu2627=) | |
5 | g.13776535C>G | CA359208577 | DNAH5 | c.9277G>C (p.Glu3093Gln) c.9232G>C (p.Glu3078Gln) c.9385G>C (p.Glu3129Gln) c.8290G>C (p.Glu2764Gln) c.4474G>C (p.Glu1492Gln) c.4027G>C (p.Glu1343Gln) c.3364G>C (p.Glu1122Gln) c.7879G>C (p.Glu2627Gln) | |
5 | g.13776535C>T | CA359208580 | DNAH5 | c.9277G>A (p.Glu3093Lys) c.9232G>A (p.Glu3078Lys) c.9385G>A (p.Glu3129Lys) c.8290G>A (p.Glu2764Lys) c.4474G>A (p.Glu1492Lys) c.4027G>A (p.Glu1343Lys) c.3364G>A (p.Glu1122Lys) c.7879G>A (p.Glu2627Lys) | |
5 | g.13776539dup | CA1073394356 | DNAH5 | c.9277dup (p.Glu3093GlyfsTer20) c.9232dup (p.Glu3078GlyfsTer20) c.9385dup (p.Glu3129GlyfsTer20) c.8290dup (p.Glu2764GlyfsTer20) c.4474dup (p.Glu1492GlyfsTer20) c.4027dup (p.Glu1343GlyfsTer20) c.3364dup (p.Glu1122GlyfsTer20) c.7879dup (p.Glu2627GlyfsTer20) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13776536C>A | CA443535840 | DNAH5 | c.9276G>T (p.Gly3092=) c.9231G>T (p.Gly3077=) c.9384G>T (p.Gly3128=) c.8289G>T (p.Gly2763=) c.4473G>T (p.Gly1491=) c.4026G>T (p.Gly1342=) c.3363G>T (p.Gly1121=) c.7878G>T (p.Gly2626=) | |
5 | g.13776536C>G | CA443535838 | DNAH5 | c.9276G>C (p.Gly3092=) c.9231G>C (p.Gly3077=) c.9384G>C (p.Gly3128=) c.8289G>C (p.Gly2763=) c.4473G>C (p.Gly1491=) c.4026G>C (p.Gly1342=) c.3363G>C (p.Gly1121=) c.7878G>C (p.Gly2626=) | |
5 | g.13776536C>T | CA443535836 | DNAH5 | c.9276G>A (p.Gly3092=) c.9231G>A (p.Gly3077=) c.9384G>A (p.Gly3128=) c.8289G>A (p.Gly2763=) c.4473G>A (p.Gly1491=) c.4026G>A (p.Gly1342=) c.3363G>A (p.Gly1121=) c.7878G>A (p.Gly2626=) | ClinVar dbSNP |
5 | g.13776537C>A | CA359208586 | DNAH5 | c.9275G>T (p.Gly3092Val) c.9230G>T (p.Gly3077Val) c.9383G>T (p.Gly3128Val) c.8288G>T (p.Gly2763Val) c.4472G>T (p.Gly1491Val) c.4025G>T (p.Gly1342Val) c.3362G>T (p.Gly1121Val) c.7877G>T (p.Gly2626Val) | |
5 | g.13776537C>G | CA359208581 | DNAH5 | c.9275G>C (p.Gly3092Ala) c.9230G>C (p.Gly3077Ala) c.9383G>C (p.Gly3128Ala) c.8288G>C (p.Gly2763Ala) c.4472G>C (p.Gly1491Ala) c.4025G>C (p.Gly1342Ala) c.3362G>C (p.Gly1121Ala) c.7877G>C (p.Gly2626Ala) | COSMIC |
5 | g.13776537C>T | CA359208582 | DNAH5 | c.9275G>A (p.Gly3092Glu) c.9230G>A (p.Gly3077Glu) c.9383G>A (p.Gly3128Glu) c.8288G>A (p.Gly2763Glu) c.4472G>A (p.Gly1491Glu) c.4025G>A (p.Gly1342Glu) c.3362G>A (p.Gly1121Glu) c.7877G>A (p.Gly2626Glu) | gnomAD v4 COSMIC |
5 | g.13776538C>A | CA359208591 | DNAH5 | c.9274G>T (p.Gly3092Trp) c.9229G>T (p.Gly3077Trp) c.9382G>T (p.Gly3128Trp) c.8287G>T (p.Gly2763Trp) c.4471G>T (p.Gly1491Trp) c.4024G>T (p.Gly1342Trp) c.3361G>T (p.Gly1121Trp) c.7876G>T (p.Gly2626Trp) | |
5 | g.13776538C= | CA1528435129 | DNAH5 | c.9274G= (p.Gly3092=) c.9229G= (p.Gly3077=) c.9382G= (p.Gly3128=) c.8287G= (p.Gly2763=) c.4471G= (p.Gly1491=) c.4024G= (p.Gly1342=) c.3361G= (p.Gly1121=) c.7876G= (p.Gly2626=) | |
5 | g.13776538C>G | CA359208592 | DNAH5 | c.9274G>C (p.Gly3092Arg) c.9229G>C (p.Gly3077Arg) c.9382G>C (p.Gly3128Arg) c.8287G>C (p.Gly2763Arg) c.4471G>C (p.Gly1491Arg) c.4024G>C (p.Gly1342Arg) c.3361G>C (p.Gly1121Arg) c.7876G>C (p.Gly2626Arg) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13776538C>T | CA359208595 | DNAH5 | c.9274G>A (p.Gly3092Arg) c.9229G>A (p.Gly3077Arg) c.9382G>A (p.Gly3128Arg) c.8287G>A (p.Gly2763Arg) c.4471G>A (p.Gly1491Arg) c.4024G>A (p.Gly1342Arg) c.3361G>A (p.Gly1121Arg) c.7876G>A (p.Gly2626Arg) | dbSNP |
5 | g.13776539_13776541del | CA2673268734 | DNAH5 | c.9272_9274del (p.Val3091del) c.9227_9229del (p.Val3076del) c.9380_9382del (p.Val3127del) c.8285_8287del (p.Val2762del) c.4469_4471del (p.Val1490del) c.4022_4024del (p.Val1341del) c.3359_3361del (p.Val1120del) c.7874_7876del (p.Val2625del) | gnomAD v4 |
5 | g.13776539C>A | CA443535848 | DNAH5 | c.9273G>T (p.Val3091=) c.9228G>T (p.Val3076=) c.9381G>T (p.Val3127=) c.8286G>T (p.Val2762=) c.4470G>T (p.Val1490=) c.4023G>T (p.Val1341=) c.3360G>T (p.Val1120=) c.7875G>T (p.Val2625=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13776539C= | CA1528435133 | DNAH5 | c.9273G= (p.Val3091=) c.9228G= (p.Val3076=) c.9381G= (p.Val3127=) c.8286G= (p.Val2762=) c.4470G= (p.Val1490=) c.4023G= (p.Val1341=) c.3360G= (p.Val1120=) c.7875G= (p.Val2625=) | |
5 | g.13776539C>G | CA3202585 | DNAH5 | c.9273G>C (p.Val3091=) c.9228G>C (p.Val3076=) c.9381G>C (p.Val3127=) c.8286G>C (p.Val2762=) c.4470G>C (p.Val1490=) c.4023G>C (p.Val1341=) c.3360G>C (p.Val1120=) c.7875G>C (p.Val2625=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13776539C>T | CA443535846 | DNAH5 | c.9273G>A (p.Val3091=) c.9228G>A (p.Val3076=) c.9381G>A (p.Val3127=) c.8286G>A (p.Val2762=) c.4470G>A (p.Val1490=) c.4023G>A (p.Val1341=) c.3360G>A (p.Val1120=) c.7875G>A (p.Val2625=) | ClinVar |
5 | g.13776540A= | CA1528435137 | DNAH5 | c.9272T= (p.Val3091=) c.9227T= (p.Val3076=) c.9380T= (p.Val3127=) c.8285T= (p.Val2762=) c.4469T= (p.Val1490=) c.4022T= (p.Val1341=) c.3359T= (p.Val1120=) c.7874T= (p.Val2625=) | |
5 | g.13776540A>C | CA359208612 | DNAH5 | c.9272T>G (p.Val3091Gly) c.9227T>G (p.Val3076Gly) c.9380T>G (p.Val3127Gly) c.8285T>G (p.Val2762Gly) c.4469T>G (p.Val1490Gly) c.4022T>G (p.Val1341Gly) c.3359T>G (p.Val1120Gly) c.7874T>G (p.Val2625Gly) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13776540A>G | CA359208615 | DNAH5 | c.9272T>C (p.Val3091Ala) c.9227T>C (p.Val3076Ala) c.9380T>C (p.Val3127Ala) c.8285T>C (p.Val2762Ala) c.4469T>C (p.Val1490Ala) c.4022T>C (p.Val1341Ala) c.3359T>C (p.Val1120Ala) c.7874T>C (p.Val2625Ala) | |
5 | g.13776540A>T | CA359208616 | DNAH5 | c.9272T>A (p.Val3091Glu) c.9227T>A (p.Val3076Glu) c.9380T>A (p.Val3127Glu) c.8285T>A (p.Val2762Glu) c.4469T>A (p.Val1490Glu) c.4022T>A (p.Val1341Glu) c.3359T>A (p.Val1120Glu) c.7874T>A (p.Val2625Glu) | |
5 | g.13776540dup | CA1073394358 | DNAH5 | c.9272dup (p.Glu3093GlyfsTer20) c.9227dup (p.Glu3078GlyfsTer20) c.9380dup (p.Glu3129GlyfsTer20) c.8285dup (p.Glu2764GlyfsTer20) c.4469dup (p.Glu1492GlyfsTer20) c.4022dup (p.Glu1343GlyfsTer20) c.3359dup (p.Glu1122GlyfsTer20) c.7874dup (p.Glu2627GlyfsTer20) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13776541C>A | CA359208622 | DNAH5 | c.9271G>T (p.Val3091Leu) c.9226G>T (p.Val3076Leu) c.9379G>T (p.Val3127Leu) c.8284G>T (p.Val2762Leu) c.4468G>T (p.Val1490Leu) c.4021G>T (p.Val1341Leu) c.3358G>T (p.Val1120Leu) c.7873G>T (p.Val2625Leu) | |
5 | g.13776541C>G | CA359208625 | DNAH5 | c.9271G>C (p.Val3091Leu) c.9226G>C (p.Val3076Leu) c.9379G>C (p.Val3127Leu) c.8284G>C (p.Val2762Leu) c.4468G>C (p.Val1490Leu) c.4021G>C (p.Val1341Leu) c.3358G>C (p.Val1120Leu) c.7873G>C (p.Val2625Leu) | |
5 | g.13776541C>T | CA359208630 | DNAH5 | c.9271G>A (p.Val3091Met) c.9226G>A (p.Val3076Met) c.9379G>A (p.Val3127Met) c.8284G>A (p.Val2762Met) c.4468G>A (p.Val1490Met) c.4021G>A (p.Val1341Met) c.3358G>A (p.Val1120Met) c.7873G>A (p.Val2625Met) | |
5 | g.13776542T>A | CA443535856 | DNAH5 | c.9270A>T (p.Pro3090=) c.9225A>T (p.Pro3075=) c.9378A>T (p.Pro3126=) c.8283A>T (p.Pro2761=) c.4467A>T (p.Pro1489=) c.4020A>T (p.Pro1340=) c.3357A>T (p.Pro1119=) c.7872A>T (p.Pro2624=) | |
5 | g.13776542T>C | CA443535858 | DNAH5 | c.9270A>G (p.Pro3090=) c.9225A>G (p.Pro3075=) c.9378A>G (p.Pro3126=) c.8283A>G (p.Pro2761=) c.4467A>G (p.Pro1489=) c.4020A>G (p.Pro1340=) c.3357A>G (p.Pro1119=) c.7872A>G (p.Pro2624=) | ClinVar dbSNP |
5 | g.13776542T>G | CA443535857 | DNAH5 | c.9270A>C (p.Pro3090=) c.9225A>C (p.Pro3075=) c.9378A>C (p.Pro3126=) c.8283A>C (p.Pro2761=) c.4467A>C (p.Pro1489=) c.4020A>C (p.Pro1340=) c.3357A>C (p.Pro1119=) c.7872A>C (p.Pro2624=) | |
5 | g.13776542T= | CA1528435141 | DNAH5 | c.9270A= (p.Pro3090=) c.9225A= (p.Pro3075=) c.9378A= (p.Pro3126=) c.8283A= (p.Pro2761=) c.4467A= (p.Pro1489=) c.4020A= (p.Pro1340=) c.3357A= (p.Pro1119=) c.7872A= (p.Pro2624=) | |
5 | g.13776543G>A | CA359208633 | DNAH5 | c.9269C>T (p.Pro3090Leu) c.9224C>T (p.Pro3075Leu) c.9377C>T (p.Pro3126Leu) c.8282C>T (p.Pro2761Leu) c.4466C>T (p.Pro1489Leu) c.4019C>T (p.Pro1340Leu) c.3356C>T (p.Pro1119Leu) c.7871C>T (p.Pro2624Leu) | |
5 | g.13776543G>C | CA359208641 | DNAH5 | c.9269C>G (p.Pro3090Arg) c.9224C>G (p.Pro3075Arg) c.9377C>G (p.Pro3126Arg) c.8282C>G (p.Pro2761Arg) c.4466C>G (p.Pro1489Arg) c.4019C>G (p.Pro1340Arg) c.3356C>G (p.Pro1119Arg) c.7871C>G (p.Pro2624Arg) | |
5 | g.13776543G>T | CA359208631 | DNAH5 | c.9269C>A (p.Pro3090Gln) c.9224C>A (p.Pro3075Gln) c.9377C>A (p.Pro3126Gln) c.8282C>A (p.Pro2761Gln) c.4466C>A (p.Pro1489Gln) c.4019C>A (p.Pro1340Gln) c.3356C>A (p.Pro1119Gln) c.7871C>A (p.Pro2624Gln) | |
5 | g.13776544G>A | CA359208643 | DNAH5 | c.9268C>T (p.Pro3090Ser) c.9223C>T (p.Pro3075Ser) c.9376C>T (p.Pro3126Ser) c.8281C>T (p.Pro2761Ser) c.4465C>T (p.Pro1489Ser) c.4018C>T (p.Pro1340Ser) c.3355C>T (p.Pro1119Ser) c.7870C>T (p.Pro2624Ser) | gnomAD v4 |
5 | g.13776544G>C | CA359208647 | DNAH5 | c.9268C>G (p.Pro3090Ala) c.9223C>G (p.Pro3075Ala) c.9376C>G (p.Pro3126Ala) c.8281C>G (p.Pro2761Ala) c.4465C>G (p.Pro1489Ala) c.4018C>G (p.Pro1340Ala) c.3355C>G (p.Pro1119Ala) c.7870C>G (p.Pro2624Ala) | |
5 | g.13776544G>T | CA359208651 | DNAH5 | c.9268C>A (p.Pro3090Thr) c.9223C>A (p.Pro3075Thr) c.9376C>A (p.Pro3126Thr) c.8281C>A (p.Pro2761Thr) c.4465C>A (p.Pro1489Thr) c.4018C>A (p.Pro1340Thr) c.3355C>A (p.Pro1119Thr) c.7870C>A (p.Pro2624Thr) | |
5 | g.13776545C>A | CA443535859 | DNAH5 | c.9267G>T (p.Ser3089=) c.9222G>T (p.Ser3074=) c.9375G>T (p.Ser3125=) c.8280G>T (p.Ser2760=) c.4464G>T (p.Ser1488=) c.4017G>T (p.Ser1339=) c.3354G>T (p.Ser1118=) c.7869G>T (p.Ser2623=) | |
5 | g.13776545C= | CA1528435143 | DNAH5 | c.9267G= (p.Ser3089=) c.9222G= (p.Ser3074=) c.9375G= (p.Ser3125=) c.8280G= (p.Ser2760=) c.4464G= (p.Ser1488=) c.4017G= (p.Ser1339=) c.3354G= (p.Ser1118=) c.7869G= (p.Ser2623=) | |
5 | g.13776545C>G | CA443535860 | DNAH5 | c.9267G>C (p.Ser3089=) c.9222G>C (p.Ser3074=) c.9375G>C (p.Ser3125=) c.8280G>C (p.Ser2760=) c.4464G>C (p.Ser1488=) c.4017G>C (p.Ser1339=) c.3354G>C (p.Ser1118=) c.7869G>C (p.Ser2623=) | |
5 | g.13776545C>T | CA3202586 | DNAH5 | c.9267G>A (p.Ser3089=) c.9222G>A (p.Ser3074=) c.9375G>A (p.Ser3125=) c.8280G>A (p.Ser2760=) c.4464G>A (p.Ser1488=) c.4017G>A (p.Ser1339=) c.3354G>A (p.Ser1118=) c.7869G>A (p.Ser2623=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13776546G>A | CA3202587 | DNAH5 | c.9266C>T (p.Ser3089Leu) c.9221C>T (p.Ser3074Leu) c.9374C>T (p.Ser3125Leu) c.8279C>T (p.Ser2760Leu) c.4463C>T (p.Ser1488Leu) c.4016C>T (p.Ser1339Leu) c.3353C>T (p.Ser1118Leu) c.7868C>T (p.Ser2623Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13776546G>C | CA359208667 | DNAH5 | c.9266C>G (p.Ser3089Trp) c.9221C>G (p.Ser3074Trp) c.9374C>G (p.Ser3125Trp) c.8279C>G (p.Ser2760Trp) c.4463C>G (p.Ser1488Trp) c.4016C>G (p.Ser1339Trp) c.3353C>G (p.Ser1118Trp) c.7868C>G (p.Ser2623Trp) | |
5 | g.13776546G= | CA1528435146 | DNAH5 | c.9266C= (p.Ser3089=) c.9221C= (p.Ser3074=) c.9374C= (p.Ser3125=) c.8279C= (p.Ser2760=) c.4463C= (p.Ser1488=) c.4016C= (p.Ser1339=) c.3353C= (p.Ser1118=) c.7868C= (p.Ser2623=) | |
5 | g.13776546G>T | CA359208670 | DNAH5 | c.9266C>A (p.Ser3089Ter) c.9221C>A (p.Ser3074Ter) c.9374C>A (p.Ser3125Ter) c.8279C>A (p.Ser2760Ter) c.4463C>A (p.Ser1488Ter) c.4016C>A (p.Ser1339Ter) c.3353C>A (p.Ser1118Ter) c.7868C>A (p.Ser2623Ter) | |
5 | g.13776547A>C | CA359208671 | DNAH5 | c.9265T>G (p.Ser3089Ala) c.9220T>G (p.Ser3074Ala) c.9373T>G (p.Ser3125Ala) c.8278T>G (p.Ser2760Ala) c.4462T>G (p.Ser1488Ala) c.4015T>G (p.Ser1339Ala) c.3352T>G (p.Ser1118Ala) c.7867T>G (p.Ser2623Ala) | |
5 | g.13776547A>G | CA359208672 | DNAH5 | c.9265T>C (p.Ser3089Pro) c.9220T>C (p.Ser3074Pro) c.9373T>C (p.Ser3125Pro) c.8278T>C (p.Ser2760Pro) c.4462T>C (p.Ser1488Pro) c.4015T>C (p.Ser1339Pro) c.3352T>C (p.Ser1118Pro) c.7867T>C (p.Ser2623Pro) | |
5 | g.13776547A>T | CA359208674 | DNAH5 | c.9265T>A (p.Ser3089Thr) c.9220T>A (p.Ser3074Thr) c.9373T>A (p.Ser3125Thr) c.8278T>A (p.Ser2760Thr) c.4462T>A (p.Ser1488Thr) c.4015T>A (p.Ser1339Thr) c.3352T>A (p.Ser1118Thr) c.7867T>A (p.Ser2623Thr) | |
5 | g.13776548G>A | CA443535865 | DNAH5 | c.9264C>T (p.Phe3088=) c.9219C>T (p.Phe3073=) c.9372C>T (p.Phe3124=) c.8277C>T (p.Phe2759=) c.4461C>T (p.Phe1487=) c.4014C>T (p.Phe1338=) c.3351C>T (p.Phe1117=) c.7866C>T (p.Phe2622=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13776548G>C | CA359208679 | DNAH5 | c.9264C>G (p.Phe3088Leu) c.9219C>G (p.Phe3073Leu) c.9372C>G (p.Phe3124Leu) c.8277C>G (p.Phe2759Leu) c.4461C>G (p.Phe1487Leu) c.4014C>G (p.Phe1338Leu) c.3351C>G (p.Phe1117Leu) c.7866C>G (p.Phe2622Leu) | gnomAD v4 |
5 | g.13776548G= | CA1528435149 | DNAH5 | c.9264C= (p.Phe3088=) c.9219C= (p.Phe3073=) c.9372C= (p.Phe3124=) c.8277C= (p.Phe2759=) c.4461C= (p.Phe1487=) c.4014C= (p.Phe1338=) c.3351C= (p.Phe1117=) c.7866C= (p.Phe2622=) | |
5 | g.13776548G>T | CA359208681 | DNAH5 | c.9264C>A (p.Phe3088Leu) c.9219C>A (p.Phe3073Leu) c.9372C>A (p.Phe3124Leu) c.8277C>A (p.Phe2759Leu) c.4461C>A (p.Phe1487Leu) c.4014C>A (p.Phe1338Leu) c.3351C>A (p.Phe1117Leu) c.7866C>A (p.Phe2622Leu) | |
5 | g.13776549A>C | CA359208688 | DNAH5 | c.9263T>G (p.Phe3088Cys) c.9218T>G (p.Phe3073Cys) c.9371T>G (p.Phe3124Cys) c.8276T>G (p.Phe2759Cys) c.4460T>G (p.Phe1487Cys) c.4013T>G (p.Phe1338Cys) c.3350T>G (p.Phe1117Cys) c.7865T>G (p.Phe2622Cys) | gnomAD v4 |
5 | g.13776549A>G | CA359208693 | DNAH5 | c.9263T>C (p.Phe3088Ser) c.9218T>C (p.Phe3073Ser) c.9371T>C (p.Phe3124Ser) c.8276T>C (p.Phe2759Ser) c.4460T>C (p.Phe1487Ser) c.4013T>C (p.Phe1338Ser) c.3350T>C (p.Phe1117Ser) c.7865T>C (p.Phe2622Ser) | |
5 | g.13776549A>T | CA359208685 | DNAH5 | c.9263T>A (p.Phe3088Tyr) c.9218T>A (p.Phe3073Tyr) c.9371T>A (p.Phe3124Tyr) c.8276T>A (p.Phe2759Tyr) c.4460T>A (p.Phe1487Tyr) c.4013T>A (p.Phe1338Tyr) c.3350T>A (p.Phe1117Tyr) c.7865T>A (p.Phe2622Tyr) | |
5 | g.13776550A>C | CA359208698 | DNAH5 | c.9262T>G (p.Phe3088Val) c.9217T>G (p.Phe3073Val) c.9370T>G (p.Phe3124Val) c.8275T>G (p.Phe2759Val) c.4459T>G (p.Phe1487Val) c.4012T>G (p.Phe1338Val) c.3349T>G (p.Phe1117Val) c.7864T>G (p.Phe2622Val) | gnomAD v4 |
5 | g.13776550A>G | CA359208702 | DNAH5 | c.9262T>C (p.Phe3088Leu) c.9217T>C (p.Phe3073Leu) c.9370T>C (p.Phe3124Leu) c.8275T>C (p.Phe2759Leu) c.4459T>C (p.Phe1487Leu) c.4012T>C (p.Phe1338Leu) c.3349T>C (p.Phe1117Leu) c.7864T>C (p.Phe2622Leu) | gnomAD v4 |
5 | g.13776550A>T | CA359208705 | DNAH5 | c.9262T>A (p.Phe3088Ile) c.9217T>A (p.Phe3073Ile) c.9370T>A (p.Phe3124Ile) c.8275T>A (p.Phe2759Ile) c.4459T>A (p.Phe1487Ile) c.4012T>A (p.Phe1338Ile) c.3349T>A (p.Phe1117Ile) c.7864T>A (p.Phe2622Ile) | |
5 | g.13776551G>A | CA443535871 | DNAH5 | c.9261C>T (p.Cys3087=) c.9216C>T (p.Cys3072=) c.9369C>T (p.Cys3123=) c.8274C>T (p.Cys2758=) c.4458C>T (p.Cys1486=) c.4011C>T (p.Cys1337=) c.3348C>T (p.Cys1116=) c.7863C>T (p.Cys2621=) | |
5 | g.13776551G>C | CA359208706 | DNAH5 | c.9261C>G (p.Cys3087Trp) c.9216C>G (p.Cys3072Trp) c.9369C>G (p.Cys3123Trp) c.8274C>G (p.Cys2758Trp) c.4458C>G (p.Cys1486Trp) c.4011C>G (p.Cys1337Trp) c.3348C>G (p.Cys1116Trp) c.7863C>G (p.Cys2621Trp) | |
5 | g.13776551G>T | CA359208707 | DNAH5 | c.9261C>A (p.Cys3087Ter) c.9216C>A (p.Cys3072Ter) c.9369C>A (p.Cys3123Ter) c.8274C>A (p.Cys2758Ter) c.4458C>A (p.Cys1486Ter) c.4011C>A (p.Cys1337Ter) c.3348C>A (p.Cys1116Ter) c.7863C>A (p.Cys2621Ter) | |
5 | g.13776552C>A | CA359208710 | DNAH5 | c.9260G>T (p.Cys3087Phe) c.9215G>T (p.Cys3072Phe) c.9368G>T (p.Cys3123Phe) c.8273G>T (p.Cys2758Phe) c.4457G>T (p.Cys1486Phe) c.4010G>T (p.Cys1337Phe) c.3347G>T (p.Cys1116Phe) c.7862G>T (p.Cys2621Phe) | |
5 | g.13776552C>G | CA359208708 | DNAH5 | c.9260G>C (p.Cys3087Ser) c.9215G>C (p.Cys3072Ser) c.9368G>C (p.Cys3123Ser) c.8273G>C (p.Cys2758Ser) c.4457G>C (p.Cys1486Ser) c.4010G>C (p.Cys1337Ser) c.3347G>C (p.Cys1116Ser) c.7862G>C (p.Cys2621Ser) | |
5 | g.13776552C>T | CA359208709 | DNAH5 | c.9260G>A (p.Cys3087Tyr) c.9215G>A (p.Cys3072Tyr) c.9368G>A (p.Cys3123Tyr) c.8273G>A (p.Cys2758Tyr) c.4457G>A (p.Cys1486Tyr) c.4010G>A (p.Cys1337Tyr) c.3347G>A (p.Cys1116Tyr) c.7862G>A (p.Cys2621Tyr) | ClinVar gnomAD v4 |
5 | g.13776553A>C | CA359208712 | DNAH5 | c.9259T>G (p.Cys3087Gly) c.9214T>G (p.Cys3072Gly) c.9367T>G (p.Cys3123Gly) c.8272T>G (p.Cys2758Gly) c.4456T>G (p.Cys1486Gly) c.4009T>G (p.Cys1337Gly) c.3346T>G (p.Cys1116Gly) c.7861T>G (p.Cys2621Gly) | |
5 | g.13776553A>G | CA359208718 | DNAH5 | c.9259T>C (p.Cys3087Arg) c.9214T>C (p.Cys3072Arg) c.9367T>C (p.Cys3123Arg) c.8272T>C (p.Cys2758Arg) c.4456T>C (p.Cys1486Arg) c.4009T>C (p.Cys1337Arg) c.3346T>C (p.Cys1116Arg) c.7861T>C (p.Cys2621Arg) | |
5 | g.13776553A>T | CA359208729 | DNAH5 | c.9259T>A (p.Cys3087Ser) c.9214T>A (p.Cys3072Ser) c.9367T>A (p.Cys3123Ser) c.8272T>A (p.Cys2758Ser) c.4456T>A (p.Cys1486Ser) c.4009T>A (p.Cys1337Ser) c.3346T>A (p.Cys1116Ser) c.7861T>A (p.Cys2621Ser) | |
5 | g.13776554G>A | CA443535873 | DNAH5 | c.9258C>T (p.Leu3086=) c.9213C>T (p.Leu3071=) c.9366C>T (p.Leu3122=) c.8271C>T (p.Leu2757=) c.4455C>T (p.Leu1485=) c.4008C>T (p.Leu1336=) c.3345C>T (p.Leu1115=) c.7860C>T (p.Leu2620=) | ClinVar gnomAD v4 |
5 | g.13776554G>C | CA443535874 | DNAH5 | c.9258C>G (p.Leu3086=) c.9213C>G (p.Leu3071=) c.9366C>G (p.Leu3122=) c.8271C>G (p.Leu2757=) c.4455C>G (p.Leu1485=) c.4008C>G (p.Leu1336=) c.3345C>G (p.Leu1115=) c.7860C>G (p.Leu2620=) | |
5 | g.13776554G>T | CA443535875 | DNAH5 | c.9258C>A (p.Leu3086=) c.9213C>A (p.Leu3071=) c.9366C>A (p.Leu3122=) c.8271C>A (p.Leu2757=) c.4455C>A (p.Leu1485=) c.4008C>A (p.Leu1336=) c.3345C>A (p.Leu1115=) c.7860C>A (p.Leu2620=) | |
5 | g.13776555A>C | CA359208735 | DNAH5 | c.9257T>G (p.Leu3086Arg) c.9212T>G (p.Leu3071Arg) c.9365T>G (p.Leu3122Arg) c.8270T>G (p.Leu2757Arg) c.4454T>G (p.Leu1485Arg) c.4007T>G (p.Leu1336Arg) c.3344T>G (p.Leu1115Arg) c.7859T>G (p.Leu2620Arg) | |
5 | g.13776555A>G | CA359208737 | DNAH5 | c.9257T>C (p.Leu3086Pro) c.9212T>C (p.Leu3071Pro) c.9365T>C (p.Leu3122Pro) c.8270T>C (p.Leu2757Pro) c.4454T>C (p.Leu1485Pro) c.4007T>C (p.Leu1336Pro) c.3344T>C (p.Leu1115Pro) c.7859T>C (p.Leu2620Pro) | |
5 | g.13776555A>T | CA359208740 | DNAH5 | c.9257T>A (p.Leu3086His) c.9212T>A (p.Leu3071His) c.9365T>A (p.Leu3122His) c.8270T>A (p.Leu2757His) c.4454T>A (p.Leu1485His) c.4007T>A (p.Leu1336His) c.3344T>A (p.Leu1115His) c.7859T>A (p.Leu2620His) | |
5 | g.13776556G>A | CA359208751 | DNAH5 | c.9256C>T (p.Leu3086Phe) c.9211C>T (p.Leu3071Phe) c.9364C>T (p.Leu3122Phe) c.8269C>T (p.Leu2757Phe) c.4453C>T (p.Leu1485Phe) c.4006C>T (p.Leu1336Phe) c.3343C>T (p.Leu1115Phe) c.7858C>T (p.Leu2620Phe) | COSMIC |
5 | g.13776556G>C | CA359208749 | DNAH5 | c.9256C>G (p.Leu3086Val) c.9211C>G (p.Leu3071Val) c.9364C>G (p.Leu3122Val) c.8269C>G (p.Leu2757Val) c.4453C>G (p.Leu1485Val) c.4006C>G (p.Leu1336Val) c.3343C>G (p.Leu1115Val) c.7858C>G (p.Leu2620Val) | |
5 | g.13776556G>T | CA359208746 | DNAH5 | c.9256C>A (p.Leu3086Ile) c.9211C>A (p.Leu3071Ile) c.9364C>A (p.Leu3122Ile) c.8269C>A (p.Leu2757Ile) c.4453C>A (p.Leu1485Ile) c.4006C>A (p.Leu1336Ile) c.3343C>A (p.Leu1115Ile) c.7858C>A (p.Leu2620Ile) | |
5 | g.13776557C>A | CA443535879 | DNAH5 | c.9255G>T (p.Val3085=) c.9210G>T (p.Val3070=) c.9363G>T (p.Val3121=) c.8268G>T (p.Val2756=) c.4452G>T (p.Val1484=) c.4005G>T (p.Val1335=) c.3342G>T (p.Val1114=) c.7857G>T (p.Val2619=) | |
5 | g.13776557C= | CA1528435153 | DNAH5 | c.9255G= (p.Val3085=) c.9210G= (p.Val3070=) c.9363G= (p.Val3121=) c.8268G= (p.Val2756=) c.4452G= (p.Val1484=) c.4005G= (p.Val1335=) c.3342G= (p.Val1114=) c.7857G= (p.Val2619=) | |
5 | g.13776557C>G | CA443535881 | DNAH5 | c.9255G>C (p.Val3085=) c.9210G>C (p.Val3070=) c.9363G>C (p.Val3121=) c.8268G>C (p.Val2756=) c.4452G>C (p.Val1484=) c.4005G>C (p.Val1335=) c.3342G>C (p.Val1114=) c.7857G>C (p.Val2619=) | |
5 | g.13776557C>T | CA443535882 | DNAH5 | c.9255G>A (p.Val3085=) c.9210G>A (p.Val3070=) c.9363G>A (p.Val3121=) c.8268G>A (p.Val2756=) c.4452G>A (p.Val1484=) c.4005G>A (p.Val1335=) c.3342G>A (p.Val1114=) c.7857G>A (p.Val2619=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13776558A>C | CA359208755 | DNAH5 | c.9254T>G (p.Val3085Gly) c.9209T>G (p.Val3070Gly) c.9362T>G (p.Val3121Gly) c.8267T>G (p.Val2756Gly) c.4451T>G (p.Val1484Gly) c.4004T>G (p.Val1335Gly) c.3341T>G (p.Val1114Gly) c.7856T>G (p.Val2619Gly) | |
5 | g.13776558A>G | CA359208754 | DNAH5 | c.9254T>C (p.Val3085Ala) c.9209T>C (p.Val3070Ala) c.9362T>C (p.Val3121Ala) c.8267T>C (p.Val2756Ala) c.4451T>C (p.Val1484Ala) c.4004T>C (p.Val1335Ala) c.3341T>C (p.Val1114Ala) c.7856T>C (p.Val2619Ala) | |
5 | g.13776558A>T | CA359208756 | DNAH5 | c.9254T>A (p.Val3085Glu) c.9209T>A (p.Val3070Glu) c.9362T>A (p.Val3121Glu) c.8267T>A (p.Val2756Glu) c.4451T>A (p.Val1484Glu) c.4004T>A (p.Val1335Glu) c.3341T>A (p.Val1114Glu) c.7856T>A (p.Val2619Glu) | |
5 | g.13776559C>A | CA359208759 | DNAH5 | c.9253G>T (p.Val3085Leu) c.9208G>T (p.Val3070Leu) c.9361G>T (p.Val3121Leu) c.8266G>T (p.Val2756Leu) c.4450G>T (p.Val1484Leu) c.4003G>T (p.Val1335Leu) c.3340G>T (p.Val1114Leu) c.7855G>T (p.Val2619Leu) | gnomAD v4 |
5 | g.13776559C>G | CA359208760 | DNAH5 | c.9253G>C (p.Val3085Leu) c.9208G>C (p.Val3070Leu) c.9361G>C (p.Val3121Leu) c.8266G>C (p.Val2756Leu) c.4450G>C (p.Val1484Leu) c.4003G>C (p.Val1335Leu) c.3340G>C (p.Val1114Leu) c.7855G>C (p.Val2619Leu) | |
5 | g.13776559C>T | CA359208762 | DNAH5 | c.9253G>A (p.Val3085Met) c.9208G>A (p.Val3070Met) c.9361G>A (p.Val3121Met) c.8266G>A (p.Val2756Met) c.4450G>A (p.Val1484Met) c.4003G>A (p.Val1335Met) c.3340G>A (p.Val1114Met) c.7855G>A (p.Val2619Met) | |
5 | g.13776560A= | CA1528435159 | DNAH5 | c.9252T= (p.Ile3084=) c.9207T= (p.Ile3069=) c.9360T= (p.Ile3120=) c.8265T= (p.Ile2755=) c.4449T= (p.Ile1483=) c.4002T= (p.Ile1334=) c.3339T= (p.Ile1113=) c.7854T= (p.Ile2618=) | |
5 | g.13776560A>C | CA359208763 | DNAH5 | c.9252T>G (p.Ile3084Met) c.9207T>G (p.Ile3069Met) c.9360T>G (p.Ile3120Met) c.8265T>G (p.Ile2755Met) c.4449T>G (p.Ile1483Met) c.4002T>G (p.Ile1334Met) c.3339T>G (p.Ile1113Met) c.7854T>G (p.Ile2618Met) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13776560A>G | CA443535595 | DNAH5 | c.9252T>C (p.Ile3084=) c.9207T>C (p.Ile3069=) c.9360T>C (p.Ile3120=) c.8265T>C (p.Ile2755=) c.4449T>C (p.Ile1483=) c.4002T>C (p.Ile1334=) c.3339T>C (p.Ile1113=) c.7854T>C (p.Ile2618=) | gnomAD v4 |
5 | g.13776560A>T | CA443535596 | DNAH5 | c.9252T>A (p.Ile3084=) c.9207T>A (p.Ile3069=) c.9360T>A (p.Ile3120=) c.8265T>A (p.Ile2755=) c.4449T>A (p.Ile1483=) c.4002T>A (p.Ile1334=) c.3339T>A (p.Ile1113=) c.7854T>A (p.Ile2618=) | ClinVar dbSNP gnomAD v4 |
5 | g.13776561A>C | CA359208766 | DNAH5 | c.9251T>G (p.Ile3084Ser) c.9206T>G (p.Ile3069Ser) c.9359T>G (p.Ile3120Ser) c.8264T>G (p.Ile2755Ser) c.4448T>G (p.Ile1483Ser) c.4001T>G (p.Ile1334Ser) c.3338T>G (p.Ile1113Ser) c.7853T>G (p.Ile2618Ser) | |
5 | g.13776561A>G | CA359208769 | DNAH5 | c.9251T>C (p.Ile3084Thr) c.9206T>C (p.Ile3069Thr) c.9359T>C (p.Ile3120Thr) c.8264T>C (p.Ile2755Thr) c.4448T>C (p.Ile1483Thr) c.4001T>C (p.Ile1334Thr) c.3338T>C (p.Ile1113Thr) c.7853T>C (p.Ile2618Thr) | |
5 | g.13776561A>T | CA359208772 | DNAH5 | c.9251T>A (p.Ile3084Asn) c.9206T>A (p.Ile3069Asn) c.9359T>A (p.Ile3120Asn) c.8264T>A (p.Ile2755Asn) c.4448T>A (p.Ile1483Asn) c.4001T>A (p.Ile1334Asn) c.3338T>A (p.Ile1113Asn) c.7853T>A (p.Ile2618Asn) | |
5 | g.13776562T>A | CA359208774 | DNAH5 | c.9250A>T (p.Ile3084Phe) c.9205A>T (p.Ile3069Phe) c.9358A>T (p.Ile3120Phe) c.8263A>T (p.Ile2755Phe) c.4447A>T (p.Ile1483Phe) c.4000A>T (p.Ile1334Phe) c.3337A>T (p.Ile1113Phe) c.7852A>T (p.Ile2618Phe) | |
5 | g.13776562T>C | CA113937673 | DNAH5 | c.9250A>G (p.Ile3084Val) c.9205A>G (p.Ile3069Val) c.9358A>G (p.Ile3120Val) c.8263A>G (p.Ile2755Val) c.4447A>G (p.Ile1483Val) c.4000A>G (p.Ile1334Val) c.3337A>G (p.Ile1113Val) c.7852A>G (p.Ile2618Val) | ClinVar dbSNP gnomAD v4 |
5 | g.13776562T>G | CA359208780 | DNAH5 | c.9250A>C (p.Ile3084Leu) c.9205A>C (p.Ile3069Leu) c.9358A>C (p.Ile3120Leu) c.8263A>C (p.Ile2755Leu) c.4447A>C (p.Ile1483Leu) c.4000A>C (p.Ile1334Leu) c.3337A>C (p.Ile1113Leu) c.7852A>C (p.Ile2618Leu) | gnomAD v4 |
5 | g.13776562T= | CA1528435165 | DNAH5 | c.9250A= (p.Ile3084=) c.9205A= (p.Ile3069=) c.9358A= (p.Ile3120=) c.8263A= (p.Ile2755=) c.4447A= (p.Ile1483=) c.4000A= (p.Ile1334=) c.3337A= (p.Ile1113=) c.7852A= (p.Ile2618=) | |
5 | g.13776563A>C | CA359208784 | DNAH5 | c.9249T>G (p.His3083Gln) c.9204T>G (p.His3068Gln) c.9357T>G (p.His3119Gln) c.8262T>G (p.His2754Gln) c.4446T>G (p.His1482Gln) c.3999T>G (p.His1333Gln) c.3336T>G (p.His1112Gln) c.7851T>G (p.His2617Gln) | |
5 | g.13776563A>G | CA443535600 | DNAH5 | c.9249T>C (p.His3083=) c.9204T>C (p.His3068=) c.9357T>C (p.His3119=) c.8262T>C (p.His2754=) c.4446T>C (p.His1482=) c.3999T>C (p.His1333=) c.3336T>C (p.His1112=) c.7851T>C (p.His2617=) | |
5 | g.13776563A>T | CA359208788 | DNAH5 | c.9249T>A (p.His3083Gln) c.9204T>A (p.His3068Gln) c.9357T>A (p.His3119Gln) c.8262T>A (p.His2754Gln) c.4446T>A (p.His1482Gln) c.3999T>A (p.His1333Gln) c.3336T>A (p.His1112Gln) c.7851T>A (p.His2617Gln) | |
5 | g.13776564T>A | CA359208827 | DNAH5 | c.9248A>T (p.His3083Leu) c.9203A>T (p.His3068Leu) c.9356A>T (p.His3119Leu) c.8261A>T (p.His2754Leu) c.4445A>T (p.His1482Leu) c.3998A>T (p.His1333Leu) c.3335A>T (p.His1112Leu) c.7850A>T (p.His2617Leu) | |
5 | g.13776564T>C | CA359208791 | DNAH5 | c.9248A>G (p.His3083Arg) c.9203A>G (p.His3068Arg) c.9356A>G (p.His3119Arg) c.8261A>G (p.His2754Arg) c.4445A>G (p.His1482Arg) c.3998A>G (p.His1333Arg) c.3335A>G (p.His1112Arg) c.7850A>G (p.His2617Arg) | dbSNP gnomAD v2 |
5 | g.13776564T>G | CA359208796 | DNAH5 | c.9248A>C (p.His3083Pro) c.9203A>C (p.His3068Pro) c.9356A>C (p.His3119Pro) c.8261A>C (p.His2754Pro) c.4445A>C (p.His1482Pro) c.3998A>C (p.His1333Pro) c.3335A>C (p.His1112Pro) c.7850A>C (p.His2617Pro) | |
5 | g.13776564T= | CA1528435167 | DNAH5 | c.9248A= (p.His3083=) c.9203A= (p.His3068=) c.9356A= (p.His3119=) c.8261A= (p.His2754=) c.4445A= (p.His1482=) c.3998A= (p.His1333=) c.3335A= (p.His1112=) c.7850A= (p.His2617=) | |
5 | g.13776565G>A | CA359208829 | DNAH5 | c.9247C>T (p.His3083Tyr) c.9202C>T (p.His3068Tyr) c.9355C>T (p.His3119Tyr) c.8260C>T (p.His2754Tyr) c.4444C>T (p.His1482Tyr) c.3997C>T (p.His1333Tyr) c.3334C>T (p.His1112Tyr) c.7849C>T (p.His2617Tyr) | gnomAD v4 |
5 | g.13776565G>C | CA359208830 | DNAH5 | c.9247C>G (p.His3083Asp) c.9202C>G (p.His3068Asp) c.9355C>G (p.His3119Asp) c.8260C>G (p.His2754Asp) c.4444C>G (p.His1482Asp) c.3997C>G (p.His1333Asp) c.3334C>G (p.His1112Asp) c.7849C>G (p.His2617Asp) | |
5 | g.13776565G= | CA1528435171 | DNAH5 | c.9247C= (p.His3083=) c.9202C= (p.His3068=) c.9355C= (p.His3119=) c.8260C= (p.His2754=) c.4444C= (p.His1482=) c.3997C= (p.His1333=) c.3334C= (p.His1112=) c.7849C= (p.His2617=) | |
5 | g.13776565G>T | CA359208831 | DNAH5 | c.9247C>A (p.His3083Asn) c.9202C>A (p.His3068Asn) c.9355C>A (p.His3119Asn) c.8260C>A (p.His2754Asn) c.4444C>A (p.His1482Asn) c.3997C>A (p.His1333Asn) c.3334C>A (p.His1112Asn) c.7849C>A (p.His2617Asn) | dbSNP gnomAD v2 |
5 | g.13776566A>C | CA443535603 | DNAH5 | c.9246T>G (p.Leu3082=) c.9201T>G (p.Leu3067=) c.9354T>G (p.Leu3118=) c.8259T>G (p.Leu2753=) c.4443T>G (p.Leu1481=) c.3996T>G (p.Leu1332=) c.3333T>G (p.Leu1111=) c.7848T>G (p.Leu2616=) | |
5 | g.13776566A>G | CA443535604 | DNAH5 | c.9246T>C (p.Leu3082=) c.9201T>C (p.Leu3067=) c.9354T>C (p.Leu3118=) c.8259T>C (p.Leu2753=) c.4443T>C (p.Leu1481=) c.3996T>C (p.Leu1332=) c.3333T>C (p.Leu1111=) c.7848T>C (p.Leu2616=) | |
5 | g.13776566A>T | CA443535605 | DNAH5 | c.9246T>A (p.Leu3082=) c.9201T>A (p.Leu3067=) c.9354T>A (p.Leu3118=) c.8259T>A (p.Leu2753=) c.4443T>A (p.Leu1481=) c.3996T>A (p.Leu1332=) c.3333T>A (p.Leu1111=) c.7848T>A (p.Leu2616=) | |
5 | g.13776567A= | CA1528435172 | DNAH5 | c.9245T= (p.Leu3082=) c.9200T= (p.Leu3067=) c.9353T= (p.Leu3118=) c.8258T= (p.Leu2753=) c.4442T= (p.Leu1481=) c.3995T= (p.Leu1332=) c.3332T= (p.Leu1111=) c.7847T= (p.Leu2616=) | |
5 | g.13776567A>C | CA359208833 | DNAH5 | c.9245T>G (p.Leu3082Arg) c.9200T>G (p.Leu3067Arg) c.9353T>G (p.Leu3118Arg) c.8258T>G (p.Leu2753Arg) c.4442T>G (p.Leu1481Arg) c.3995T>G (p.Leu1332Arg) c.3332T>G (p.Leu1111Arg) c.7847T>G (p.Leu2616Arg) | |
5 | g.13776567A>G | CA359208835 | DNAH5 | c.9245T>C (p.Leu3082Pro) c.9200T>C (p.Leu3067Pro) c.9353T>C (p.Leu3118Pro) c.8258T>C (p.Leu2753Pro) c.4442T>C (p.Leu1481Pro) c.3995T>C (p.Leu1332Pro) c.3332T>C (p.Leu1111Pro) c.7847T>C (p.Leu2616Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13776567A>T | CA359208837 | DNAH5 | c.9245T>A (p.Leu3082His) c.9200T>A (p.Leu3067His) c.9353T>A (p.Leu3118His) c.8258T>A (p.Leu2753His) c.4442T>A (p.Leu1481His) c.3995T>A (p.Leu1332His) c.3332T>A (p.Leu1111His) c.7847T>A (p.Leu2616His) | |
5 | g.13776568G>A | CA359208844 | DNAH5 | c.9244C>T (p.Leu3082Phe) c.9199C>T (p.Leu3067Phe) c.9352C>T (p.Leu3118Phe) c.8257C>T (p.Leu2753Phe) c.4441C>T (p.Leu1481Phe) c.3994C>T (p.Leu1332Phe) c.3331C>T (p.Leu1111Phe) c.7846C>T (p.Leu2616Phe) | |
5 | g.13776568G>C | CA359208847 | DNAH5 | c.9244C>G (p.Leu3082Val) c.9199C>G (p.Leu3067Val) c.9352C>G (p.Leu3118Val) c.8257C>G (p.Leu2753Val) c.4441C>G (p.Leu1481Val) c.3994C>G (p.Leu1332Val) c.3331C>G (p.Leu1111Val) c.7846C>G (p.Leu2616Val) | |
5 | g.13776568G= | CA1528435175 | DNAH5 | c.9244C= (p.Leu3082=) c.9199C= (p.Leu3067=) c.9352C= (p.Leu3118=) c.8257C= (p.Leu2753=) c.4441C= (p.Leu1481=) c.3994C= (p.Leu1332=) c.3331C= (p.Leu1111=) c.7846C= (p.Leu2616=) | |
5 | g.13776568G>T | CA3202588 | DNAH5 | c.9244C>A (p.Leu3082Ile) c.9199C>A (p.Leu3067Ile) c.9352C>A (p.Leu3118Ile) c.8257C>A (p.Leu2753Ile) c.4441C>A (p.Leu1481Ile) c.3994C>A (p.Leu1332Ile) c.3331C>A (p.Leu1111Ile) c.7846C>A (p.Leu2616Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13776569G>A | CA443535606 | DNAH5 | c.9243C>T (p.Asn3081=) c.9198C>T (p.Asn3066=) c.9351C>T (p.Asn3117=) c.8256C>T (p.Asn2752=) c.4440C>T (p.Asn1480=) c.3993C>T (p.Asn1331=) c.3330C>T (p.Asn1110=) c.7845C>T (p.Asn2615=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13776569G>C | CA359208853 | DNAH5 | c.9243C>G (p.Asn3081Lys) c.9198C>G (p.Asn3066Lys) c.9351C>G (p.Asn3117Lys) c.8256C>G (p.Asn2752Lys) c.4440C>G (p.Asn1480Lys) c.3993C>G (p.Asn1331Lys) c.3330C>G (p.Asn1110Lys) c.7845C>G (p.Asn2615Lys) | |
5 | g.13776569G= | CA1528435180 | DNAH5 | c.9243C= (p.Asn3081=) c.9198C= (p.Asn3066=) c.9351C= (p.Asn3117=) c.8256C= (p.Asn2752=) c.4440C= (p.Asn1480=) c.3993C= (p.Asn1331=) c.3330C= (p.Asn1110=) c.7845C= (p.Asn2615=) | |
5 | g.13776569G>T | CA359208855 | DNAH5 | c.9243C>A (p.Asn3081Lys) c.9198C>A (p.Asn3066Lys) c.9351C>A (p.Asn3117Lys) c.8256C>A (p.Asn2752Lys) c.4440C>A (p.Asn1480Lys) c.3993C>A (p.Asn1331Lys) c.3330C>A (p.Asn1110Lys) c.7845C>A (p.Asn2615Lys) | |
5 | g.13776570T>A | CA359208867 | DNAH5 | c.9242A>T (p.Asn3081Ile) c.9197A>T (p.Asn3066Ile) c.9350A>T (p.Asn3117Ile) c.8255A>T (p.Asn2752Ile) c.4439A>T (p.Asn1480Ile) c.3992A>T (p.Asn1331Ile) c.3329A>T (p.Asn1110Ile) c.7844A>T (p.Asn2615Ile) | |
5 | g.13776570T>C | CA359208873 | DNAH5 | c.9242A>G (p.Asn3081Ser) c.9197A>G (p.Asn3066Ser) c.9350A>G (p.Asn3117Ser) c.8255A>G (p.Asn2752Ser) c.4439A>G (p.Asn1480Ser) c.3992A>G (p.Asn1331Ser) c.3329A>G (p.Asn1110Ser) c.7844A>G (p.Asn2615Ser) | gnomAD v4 |
5 | g.13776570T>G | CA359208864 | DNAH5 | c.9242A>C (p.Asn3081Thr) c.9197A>C (p.Asn3066Thr) c.9350A>C (p.Asn3117Thr) c.8255A>C (p.Asn2752Thr) c.4439A>C (p.Asn1480Thr) c.3992A>C (p.Asn1331Thr) c.3329A>C (p.Asn1110Thr) c.7844A>C (p.Asn2615Thr) | |
5 | g.13776571T>A | CA359208875 | DNAH5 | c.9241A>T (p.Asn3081Tyr) c.9196A>T (p.Asn3066Tyr) c.9349A>T (p.Asn3117Tyr) c.8254A>T (p.Asn2752Tyr) c.4438A>T (p.Asn1480Tyr) c.3991A>T (p.Asn1331Tyr) c.3328A>T (p.Asn1110Tyr) c.7843A>T (p.Asn2615Tyr) | |
5 | g.13776571T>C | CA359208876 | DNAH5 | c.9241A>G (p.Asn3081Asp) c.9196A>G (p.Asn3066Asp) c.9349A>G (p.Asn3117Asp) c.8254A>G (p.Asn2752Asp) c.4438A>G (p.Asn1480Asp) c.3991A>G (p.Asn1331Asp) c.3328A>G (p.Asn1110Asp) c.7843A>G (p.Asn2615Asp) | |
5 | g.13776571T>G | CA359208880 | DNAH5 | c.9241A>C (p.Asn3081His) c.9196A>C (p.Asn3066His) c.9349A>C (p.Asn3117His) c.8254A>C (p.Asn2752His) c.4438A>C (p.Asn1480His) c.3991A>C (p.Asn1331His) c.3328A>C (p.Asn1110His) c.7843A>C (p.Asn2615His) | |
5 | g.13776572C>A | CA359208896 | DNAH5 | c.9240G>T (p.Gln3080His) c.9195G>T (p.Gln3065His) c.9348G>T (p.Gln3116His) c.8253G>T (p.Gln2751His) c.4437G>T (p.Gln1479His) c.3990G>T (p.Gln1330His) c.3327G>T (p.Gln1109His) c.7842G>T (p.Gln2614His) | |
5 | g.13776572C= | CA1528435183 | DNAH5 | c.9240G= (p.Gln3080=) c.9195G= (p.Gln3065=) c.9348G= (p.Gln3116=) c.8253G= (p.Gln2751=) c.4437G= (p.Gln1479=) c.3990G= (p.Gln1330=) c.3327G= (p.Gln1109=) c.7842G= (p.Gln2614=) | |
5 | g.13776572C>G | CA359208910 | DNAH5 | c.9240G>C (p.Gln3080His) c.9195G>C (p.Gln3065His) c.9348G>C (p.Gln3116His) c.8253G>C (p.Gln2751His) c.4437G>C (p.Gln1479His) c.3990G>C (p.Gln1330His) c.3327G>C (p.Gln1109His) c.7842G>C (p.Gln2614His) | |
5 | g.13776572C>T | CA113937675 | DNAH5 | c.9240G>A (p.Gln3080=) c.9195G>A (p.Gln3065=) c.9348G>A (p.Gln3116=) c.8253G>A (p.Gln2751=) c.4437G>A (p.Gln1479=) c.3990G>A (p.Gln1330=) c.3327G>A (p.Gln1109=) c.7842G>A (p.Gln2614=) | dbSNP COSMIC |
5 | g.13776573T>A | CA359208913 | DNAH5 | c.9239A>T (p.Gln3080Leu) c.9194A>T (p.Gln3065Leu) c.9347A>T (p.Gln3116Leu) c.8252A>T (p.Gln2751Leu) c.4436A>T (p.Gln1479Leu) c.3989A>T (p.Gln1330Leu) c.3326A>T (p.Gln1109Leu) c.7841A>T (p.Gln2614Leu) | |
5 | g.13776573T>C | CA359208914 | DNAH5 | c.9239A>G (p.Gln3080Arg) c.9194A>G (p.Gln3065Arg) c.9347A>G (p.Gln3116Arg) c.8252A>G (p.Gln2751Arg) c.4436A>G (p.Gln1479Arg) c.3989A>G (p.Gln1330Arg) c.3326A>G (p.Gln1109Arg) c.7841A>G (p.Gln2614Arg) | |
5 | g.13776573T>G | CA359208915 | DNAH5 | c.9239A>C (p.Gln3080Pro) c.9194A>C (p.Gln3065Pro) c.9347A>C (p.Gln3116Pro) c.8252A>C (p.Gln2751Pro) c.4436A>C (p.Gln1479Pro) c.3989A>C (p.Gln1330Pro) c.3326A>C (p.Gln1109Pro) c.7841A>C (p.Gln2614Pro) | |
5 | g.13776574G>A | CA359208919 | DNAH5 | c.9238C>T (p.Gln3080Ter) c.9193C>T (p.Gln3065Ter) c.9346C>T (p.Gln3116Ter) c.8251C>T (p.Gln2751Ter) c.4435C>T (p.Gln1479Ter) c.3988C>T (p.Gln1330Ter) c.3325C>T (p.Gln1109Ter) c.7840C>T (p.Gln2614Ter) | |
5 | g.13776574G>C | CA359208921 | DNAH5 | c.9238C>G (p.Gln3080Glu) c.9193C>G (p.Gln3065Glu) c.9346C>G (p.Gln3116Glu) c.8251C>G (p.Gln2751Glu) c.4435C>G (p.Gln1479Glu) c.3988C>G (p.Gln1330Glu) c.3325C>G (p.Gln1109Glu) c.7840C>G (p.Gln2614Glu) | |
5 | g.13776574G>T | CA359208922 | DNAH5 | c.9238C>A (p.Gln3080Lys) c.9193C>A (p.Gln3065Lys) c.9346C>A (p.Gln3116Lys) c.8251C>A (p.Gln2751Lys) c.4435C>A (p.Gln1479Lys) c.3988C>A (p.Gln1330Lys) c.3325C>A (p.Gln1109Lys) c.7840C>A (p.Gln2614Lys) | |
5 | g.13776575T>A | CA443535609 | DNAH5 | c.9237A>T (p.Arg3079=) c.9192A>T (p.Arg3064=) c.9345A>T (p.Arg3115=) c.8250A>T (p.Arg2750=) c.4434A>T (p.Arg1478=) c.3987A>T (p.Arg1329=) c.3324A>T (p.Arg1108=) c.7839A>T (p.Arg2613=) | |
5 | g.13776575T>C | CA443535611 | DNAH5 | c.9237A>G (p.Arg3079=) c.9192A>G (p.Arg3064=) c.9345A>G (p.Arg3115=) c.8250A>G (p.Arg2750=) c.4434A>G (p.Arg1478=) c.3987A>G (p.Arg1329=) c.3324A>G (p.Arg1108=) c.7839A>G (p.Arg2613=) | |
5 | g.13776575T>G | CA443535610 | DNAH5 | c.9237A>C (p.Arg3079=) c.9192A>C (p.Arg3064=) c.9345A>C (p.Arg3115=) c.8250A>C (p.Arg2750=) c.4434A>C (p.Arg1478=) c.3987A>C (p.Arg1329=) c.3324A>C (p.Arg1108=) c.7839A>C (p.Arg2613=) | |
5 | g.13776576C>A | CA359208923 | DNAH5 | c.9236G>T (p.Arg3079Leu) c.9191G>T (p.Arg3064Leu) c.9344G>T (p.Arg3115Leu) c.8249G>T (p.Arg2750Leu) c.4433G>T (p.Arg1478Leu) c.3986G>T (p.Arg1329Leu) c.3323G>T (p.Arg1108Leu) c.7838G>T (p.Arg2613Leu) | |
5 | g.13776576C= | CA1528435188 | DNAH5 | c.9236G= (p.Arg3079=) c.9191G= (p.Arg3064=) c.9344G= (p.Arg3115=) c.8249G= (p.Arg2750=) c.4433G= (p.Arg1478=) c.3986G= (p.Arg1329=) c.3323G= (p.Arg1108=) c.7838G= (p.Arg2613=) | |
5 | g.13776576C>G | CA359208924 | DNAH5 | c.9236G>C (p.Arg3079Pro) c.9191G>C (p.Arg3064Pro) c.9344G>C (p.Arg3115Pro) c.8249G>C (p.Arg2750Pro) c.4433G>C (p.Arg1478Pro) c.3986G>C (p.Arg1329Pro) c.3323G>C (p.Arg1108Pro) c.7838G>C (p.Arg2613Pro) | gnomAD v4 |
5 | g.13776576C>T | CA3202589 | DNAH5 | c.9236G>A (p.Arg3079Gln) c.9191G>A (p.Arg3064Gln) c.9344G>A (p.Arg3115Gln) c.8249G>A (p.Arg2750Gln) c.4433G>A (p.Arg1478Gln) c.3986G>A (p.Arg1329Gln) c.3323G>A (p.Arg1108Gln) c.7838G>A (p.Arg2613Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13776577G>A | CA359208925 | DNAH5 | c.9235C>T (p.Arg3079Ter) c.9190C>T (p.Arg3064Ter) c.9343C>T (p.Arg3115Ter) c.8248C>T (p.Arg2750Ter) c.4432C>T (p.Arg1478Ter) c.3985C>T (p.Arg1329Ter) c.3322C>T (p.Arg1108Ter) c.7837C>T (p.Arg2613Ter) | ClinVar dbSNP gnomAD v4 |
5 | g.13776577G>C | CA359208927 | DNAH5 | c.9235C>G (p.Arg3079Gly) c.9190C>G (p.Arg3064Gly) c.9343C>G (p.Arg3115Gly) c.8248C>G (p.Arg2750Gly) c.4432C>G (p.Arg1478Gly) c.3985C>G (p.Arg1329Gly) c.3322C>G (p.Arg1108Gly) c.7837C>G (p.Arg2613Gly) | |
5 | g.13776577G= | CA1528435197 | DNAH5 | c.9235C= (p.Arg3079=) c.9190C= (p.Arg3064=) c.9343C= (p.Arg3115=) c.8248C= (p.Arg2750=) c.4432C= (p.Arg1478=) c.3985C= (p.Arg1329=) c.3322C= (p.Arg1108=) c.7837C= (p.Arg2613=) | |
5 | g.13776577G>T | CA443535613 | DNAH5 | c.9235C>A (p.Arg3079=) c.9190C>A (p.Arg3064=) c.9343C>A (p.Arg3115=) c.8248C>A (p.Arg2750=) c.4432C>A (p.Arg1478=) c.3985C>A (p.Arg1329=) c.3322C>A (p.Arg1108=) c.7837C>A (p.Arg2613=) | |
5 | g.13776578G>A | CA443535614 | DNAH5 | c.9234C>T (p.Val3078=) c.9189C>T (p.Val3063=) c.9342C>T (p.Val3114=) c.8247C>T (p.Val2749=) c.4431C>T (p.Val1477=) c.3984C>T (p.Val1328=) c.3321C>T (p.Val1107=) c.7836C>T (p.Val2612=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13776578G>C | CA443535615 | DNAH5 | c.9234C>G (p.Val3078=) c.9189C>G (p.Val3063=) c.9342C>G (p.Val3114=) c.8247C>G (p.Val2749=) c.4431C>G (p.Val1477=) c.3984C>G (p.Val1328=) c.3321C>G (p.Val1107=) c.7836C>G (p.Val2612=) | gnomAD v4 |
5 | g.13776578G= | CA1528435202 | DNAH5 | c.9234C= (p.Val3078=) c.9189C= (p.Val3063=) c.9342C= (p.Val3114=) c.8247C= (p.Val2749=) c.4431C= (p.Val1477=) c.3984C= (p.Val1328=) c.3321C= (p.Val1107=) c.7836C= (p.Val2612=) | |
5 | g.13776578G>T | CA443535616 | DNAH5 | c.9234C>A (p.Val3078=) c.9189C>A (p.Val3063=) c.9342C>A (p.Val3114=) c.8247C>A (p.Val2749=) c.4431C>A (p.Val1477=) c.3984C>A (p.Val1328=) c.3321C>A (p.Val1107=) c.7836C>A (p.Val2612=) | |
5 | g.13776579A>C | CA359208935 | DNAH5 | c.9233T>G (p.Val3078Gly) c.9188T>G (p.Val3063Gly) c.9341T>G (p.Val3114Gly) c.8246T>G (p.Val2749Gly) c.4430T>G (p.Val1477Gly) c.3983T>G (p.Val1328Gly) c.3320T>G (p.Val1107Gly) c.7835T>G (p.Val2612Gly) | |
5 | g.13776579A>G | CA359208942 | DNAH5 | c.9233T>C (p.Val3078Ala) c.9188T>C (p.Val3063Ala) c.9341T>C (p.Val3114Ala) c.8246T>C (p.Val2749Ala) c.4430T>C (p.Val1477Ala) c.3983T>C (p.Val1328Ala) c.3320T>C (p.Val1107Ala) c.7835T>C (p.Val2612Ala) | |
5 | g.13776579A>T | CA359208951 | DNAH5 | c.9233T>A (p.Val3078Asp) c.9188T>A (p.Val3063Asp) c.9341T>A (p.Val3114Asp) c.8246T>A (p.Val2749Asp) c.4430T>A (p.Val1477Asp) c.3983T>A (p.Val1328Asp) c.3320T>A (p.Val1107Asp) c.7835T>A (p.Val2612Asp) | |
5 | g.13776580C>A | CA359208966 | DNAH5 | c.9232G>T (p.Val3078Phe) c.9187G>T (p.Val3063Phe) c.9340G>T (p.Val3114Phe) c.8245G>T (p.Val2749Phe) c.4429G>T (p.Val1477Phe) c.3982G>T (p.Val1328Phe) c.3319G>T (p.Val1107Phe) c.7834G>T (p.Val2612Phe) | |
5 | g.13776580C>G | CA359208963 | DNAH5 | c.9232G>C (p.Val3078Leu) c.9187G>C (p.Val3063Leu) c.9340G>C (p.Val3114Leu) c.8245G>C (p.Val2749Leu) c.4429G>C (p.Val1477Leu) c.3982G>C (p.Val1328Leu) c.3319G>C (p.Val1107Leu) c.7834G>C (p.Val2612Leu) | |
5 | g.13776580C>T | CA359208957 | DNAH5 | c.9232G>A (p.Val3078Ile) c.9187G>A (p.Val3063Ile) c.9340G>A (p.Val3114Ile) c.8245G>A (p.Val2749Ile) c.4429G>A (p.Val1477Ile) c.3982G>A (p.Val1328Ile) c.3319G>A (p.Val1107Ile) c.7834G>A (p.Val2612Ile) | |
5 | g.13776581C>A | CA443535618 | DNAH5 | c.9231G>T (p.Arg3077=) c.9186G>T (p.Arg3062=) c.9339G>T (p.Arg3113=) c.8244G>T (p.Arg2748=) c.4428G>T (p.Arg1476=) c.3981G>T (p.Arg1327=) c.3318G>T (p.Arg1106=) c.7833G>T (p.Arg2611=) | gnomAD v4 |
5 | g.13776581C>G | CA443535619 | DNAH5 | c.9231G>C (p.Arg3077=) c.9186G>C (p.Arg3062=) c.9339G>C (p.Arg3113=) c.8244G>C (p.Arg2748=) c.4428G>C (p.Arg1476=) c.3981G>C (p.Arg1327=) c.3318G>C (p.Arg1106=) c.7833G>C (p.Arg2611=) | ClinVar dbSNP |
5 | g.13776581C>T | CA443535620 | DNAH5 | c.9231G>A (p.Arg3077=) c.9186G>A (p.Arg3062=) c.9339G>A (p.Arg3113=) c.8244G>A (p.Arg2748=) c.4428G>A (p.Arg1476=) c.3981G>A (p.Arg1327=) c.3318G>A (p.Arg1106=) c.7833G>A (p.Arg2611=) | |
5 | g.13776582C>A | CA3202590 | DNAH5 | c.9230G>T (p.Arg3077Leu) c.9185G>T (p.Arg3062Leu) c.9338G>T (p.Arg3113Leu) c.8243G>T (p.Arg2748Leu) c.4427G>T (p.Arg1476Leu) c.3980G>T (p.Arg1327Leu) c.3317G>T (p.Arg1106Leu) c.7832G>T (p.Arg2611Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13776582C= | CA1528435214 | DNAH5 | c.9230G= (p.Arg3077=) c.9185G= (p.Arg3062=) c.9338G= (p.Arg3113=) c.8243G= (p.Arg2748=) c.4427G= (p.Arg1476=) c.3980G= (p.Arg1327=) c.3317G= (p.Arg1106=) c.7832G= (p.Arg2611=) | |
5 | g.13776582C>G | CA359208968 | DNAH5 | c.9230G>C (p.Arg3077Pro) c.9185G>C (p.Arg3062Pro) c.9338G>C (p.Arg3113Pro) c.8243G>C (p.Arg2748Pro) c.4427G>C (p.Arg1476Pro) c.3980G>C (p.Arg1327Pro) c.3317G>C (p.Arg1106Pro) c.7832G>C (p.Arg2611Pro) | |
5 | g.13776582C>T | CA3202591 | DNAH5 | c.9230G>A (p.Arg3077Gln) c.9185G>A (p.Arg3062Gln) c.9338G>A (p.Arg3113Gln) c.8243G>A (p.Arg2748Gln) c.4427G>A (p.Arg1476Gln) c.3980G>A (p.Arg1327Gln) c.3317G>A (p.Arg1106Gln) c.7832G>A (p.Arg2611Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13776583G>A | CA359208969 | DNAH5 | c.9229C>T (p.Arg3077Trp) c.9184C>T (p.Arg3062Trp) c.9337C>T (p.Arg3113Trp) c.8242C>T (p.Arg2748Trp) c.4426C>T (p.Arg1476Trp) c.3979C>T (p.Arg1327Trp) c.3316C>T (p.Arg1106Trp) c.7831C>T (p.Arg2611Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13776583G>C | CA359208970 | DNAH5 | c.9229C>G (p.Arg3077Gly) c.9184C>G (p.Arg3062Gly) c.9337C>G (p.Arg3113Gly) c.8242C>G (p.Arg2748Gly) c.4426C>G (p.Arg1476Gly) c.3979C>G (p.Arg1327Gly) c.3316C>G (p.Arg1106Gly) c.7831C>G (p.Arg2611Gly) | |
5 | g.13776583G= | CA1528435221 | DNAH5 | c.9229C= (p.Arg3077=) c.9184C= (p.Arg3062=) c.9337C= (p.Arg3113=) c.8242C= (p.Arg2748=) c.4426C= (p.Arg1476=) c.3979C= (p.Arg1327=) c.3316C= (p.Arg1106=) c.7831C= (p.Arg2611=) | |
5 | g.13776583G>T | CA443535621 | DNAH5 | c.9229C>A (p.Arg3077=) c.9184C>A (p.Arg3062=) c.9337C>A (p.Arg3113=) c.8242C>A (p.Arg2748=) c.4426C>A (p.Arg1476=) c.3979C>A (p.Arg1327=) c.3316C>A (p.Arg1106=) c.7831C>A (p.Arg2611=) | |
5 | g.13776584A>C | CA359208972 | DNAH5 | c.9228T>G (p.Ser3076Arg) c.9183T>G (p.Ser3061Arg) c.9336T>G (p.Ser3112Arg) c.8241T>G (p.Ser2747Arg) c.4425T>G (p.Ser1475Arg) c.3978T>G (p.Ser1326Arg) c.3315T>G (p.Ser1105Arg) c.7830T>G (p.Ser2610Arg) | |
5 | g.13776584A>G | CA443535622 | DNAH5 | c.9228T>C (p.Ser3076=) c.9183T>C (p.Ser3061=) c.9336T>C (p.Ser3112=) c.8241T>C (p.Ser2747=) c.4425T>C (p.Ser1475=) c.3978T>C (p.Ser1326=) c.3315T>C (p.Ser1105=) c.7830T>C (p.Ser2610=) | |
5 | g.13776584A>T | CA359208973 | DNAH5 | c.9228T>A (p.Ser3076Arg) c.9183T>A (p.Ser3061Arg) c.9336T>A (p.Ser3112Arg) c.8241T>A (p.Ser2747Arg) c.4425T>A (p.Ser1475Arg) c.3978T>A (p.Ser1326Arg) c.3315T>A (p.Ser1105Arg) c.7830T>A (p.Ser2610Arg) | |
5 | g.13776585C>A | CA359208984 | DNAH5 | c.9227G>T (p.Ser3076Ile) c.9182G>T (p.Ser3061Ile) c.9335G>T (p.Ser3112Ile) c.8240G>T (p.Ser2747Ile) c.4424G>T (p.Ser1475Ile) c.3977G>T (p.Ser1326Ile) c.3314G>T (p.Ser1105Ile) c.7829G>T (p.Ser2610Ile) | COSMIC |
5 | g.13776585C>G | CA359208983 | DNAH5 | c.9227G>C (p.Ser3076Thr) c.9182G>C (p.Ser3061Thr) c.9335G>C (p.Ser3112Thr) c.8240G>C (p.Ser2747Thr) c.4424G>C (p.Ser1475Thr) c.3977G>C (p.Ser1326Thr) c.3314G>C (p.Ser1105Thr) c.7829G>C (p.Ser2610Thr) | |
5 | g.13776585C>T | CA359208979 | DNAH5 | c.9227G>A (p.Ser3076Asn) c.9182G>A (p.Ser3061Asn) c.9335G>A (p.Ser3112Asn) c.8240G>A (p.Ser2747Asn) c.4424G>A (p.Ser1475Asn) c.3977G>A (p.Ser1326Asn) c.3314G>A (p.Ser1105Asn) c.7829G>A (p.Ser2610Asn) | |
5 | g.13776586T>A | CA359208986 | DNAH5 | c.9226A>T (p.Ser3076Cys) c.9181A>T (p.Ser3061Cys) c.9334A>T (p.Ser3112Cys) c.8239A>T (p.Ser2747Cys) c.4423A>T (p.Ser1475Cys) c.3976A>T (p.Ser1326Cys) c.3313A>T (p.Ser1105Cys) c.7828A>T (p.Ser2610Cys) | |
5 | g.13776586T>C | CA359208990 | DNAH5 | c.9226A>G (p.Ser3076Gly) c.9181A>G (p.Ser3061Gly) c.9334A>G (p.Ser3112Gly) c.8239A>G (p.Ser2747Gly) c.4423A>G (p.Ser1475Gly) c.3976A>G (p.Ser1326Gly) c.3313A>G (p.Ser1105Gly) c.7828A>G (p.Ser2610Gly) | |
5 | g.13776586T>G | CA359208988 | DNAH5 | c.9226A>C (p.Ser3076Arg) c.9181A>C (p.Ser3061Arg) c.9334A>C (p.Ser3112Arg) c.8239A>C (p.Ser2747Arg) c.4423A>C (p.Ser1475Arg) c.3976A>C (p.Ser1326Arg) c.3313A>C (p.Ser1105Arg) c.7828A>C (p.Ser2610Arg) | |
5 | g.13776587C>A | CA359208992 | DNAH5 | c.9225G>T (p.Met3075Ile) c.9180G>T (p.Met3060Ile) c.9333G>T (p.Met3111Ile) c.8238G>T (p.Met2746Ile) c.4422G>T (p.Met1474Ile) c.3975G>T (p.Met1325Ile) c.3312G>T (p.Met1104Ile) c.7827G>T (p.Met2609Ile) | |
5 | g.13776587C= | CA1528435226 | DNAH5 | c.9225G= (p.Met3075=) c.9180G= (p.Met3060=) c.9333G= (p.Met3111=) c.8238G= (p.Met2746=) c.4422G= (p.Met1474=) c.3975G= (p.Met1325=) c.3312G= (p.Met1104=) c.7827G= (p.Met2609=) | |
5 | g.13776587C>G | CA359208998 | DNAH5 | c.9225G>C (p.Met3075Ile) c.9180G>C (p.Met3060Ile) c.9333G>C (p.Met3111Ile) c.8238G>C (p.Met2746Ile) c.4422G>C (p.Met1474Ile) c.3975G>C (p.Met1325Ile) c.3312G>C (p.Met1104Ile) c.7827G>C (p.Met2609Ile) | |
5 | g.13776587C>T | CA359208995 | DNAH5 | c.9225G>A (p.Met3075Ile) c.9180G>A (p.Met3060Ile) c.9333G>A (p.Met3111Ile) c.8238G>A (p.Met2746Ile) c.4422G>A (p.Met1474Ile) c.3975G>A (p.Met1325Ile) c.3312G>A (p.Met1104Ile) c.7827G>A (p.Met2609Ile) | dbSNP gnomAD v4 |
5 | g.13776588A>C | CA359209002 | DNAH5 | c.9224T>G (p.Met3075Arg) c.9179T>G (p.Met3060Arg) c.9332T>G (p.Met3111Arg) c.8237T>G (p.Met2746Arg) c.4421T>G (p.Met1474Arg) c.3974T>G (p.Met1325Arg) c.3311T>G (p.Met1104Arg) c.7826T>G (p.Met2609Arg) | |
5 | g.13776588A>G | CA359209005 | DNAH5 | c.9224T>C (p.Met3075Thr) c.9179T>C (p.Met3060Thr) c.9332T>C (p.Met3111Thr) c.8237T>C (p.Met2746Thr) c.4421T>C (p.Met1474Thr) c.3974T>C (p.Met1325Thr) c.3311T>C (p.Met1104Thr) c.7826T>C (p.Met2609Thr) | COSMIC |
5 | g.13776588A>T | CA359209006 | DNAH5 | c.9224T>A (p.Met3075Lys) c.9179T>A (p.Met3060Lys) c.9332T>A (p.Met3111Lys) c.8237T>A (p.Met2746Lys) c.4421T>A (p.Met1474Lys) c.3974T>A (p.Met1325Lys) c.3311T>A (p.Met1104Lys) c.7826T>A (p.Met2609Lys) | |
5 | g.13776589T>A | CA359209008 | DNAH5 | c.9223A>T (p.Met3075Leu) c.9178A>T (p.Met3060Leu) c.9331A>T (p.Met3111Leu) c.8236A>T (p.Met2746Leu) c.4420A>T (p.Met1474Leu) c.3973A>T (p.Met1325Leu) c.3310A>T (p.Met1104Leu) c.7825A>T (p.Met2609Leu) | |
5 | g.13776589T>C | CA359209022 | DNAH5 | c.9223A>G (p.Met3075Val) c.9178A>G (p.Met3060Val) c.9331A>G (p.Met3111Val) c.8236A>G (p.Met2746Val) c.4420A>G (p.Met1474Val) c.3973A>G (p.Met1325Val) c.3310A>G (p.Met1104Val) c.7825A>G (p.Met2609Val) | gnomAD v4 |
5 | g.13776589T>G | CA3202592 | DNAH5 | c.9223A>C (p.Met3075Leu) c.9178A>C (p.Met3060Leu) c.9331A>C (p.Met3111Leu) c.8236A>C (p.Met2746Leu) c.4420A>C (p.Met1474Leu) c.3973A>C (p.Met1325Leu) c.3310A>C (p.Met1104Leu) c.7825A>C (p.Met2609Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13776589T= | CA1528435230 | DNAH5 | c.9223A= (p.Met3075=) c.9178A= (p.Met3060=) c.9331A= (p.Met3111=) c.8236A= (p.Met2746=) c.4420A= (p.Met1474=) c.3973A= (p.Met1325=) c.3310A= (p.Met1104=) c.7825A= (p.Met2609=) | |
5 | g.13776590G>A | CA443535624 | DNAH5 | c.9222C>T (p.Phe3074=) c.9177C>T (p.Phe3059=) c.9330C>T (p.Phe3110=) c.8235C>T (p.Phe2745=) c.4419C>T (p.Phe1473=) c.3972C>T (p.Phe1324=) c.3309C>T (p.Phe1103=) c.7824C>T (p.Phe2608=) | ClinVar dbSNP gnomAD v4 |
5 | g.13776590G>C | CA359209030 | DNAH5 | c.9222C>G (p.Phe3074Leu) c.9177C>G (p.Phe3059Leu) c.9330C>G (p.Phe3110Leu) c.8235C>G (p.Phe2745Leu) c.4419C>G (p.Phe1473Leu) c.3972C>G (p.Phe1324Leu) c.3309C>G (p.Phe1103Leu) c.7824C>G (p.Phe2608Leu) | |
5 | g.13776590G= | CA1528435234 | DNAH5 | c.9222C= (p.Phe3074=) c.9177C= (p.Phe3059=) c.9330C= (p.Phe3110=) c.8235C= (p.Phe2745=) c.4419C= (p.Phe1473=) c.3972C= (p.Phe1324=) c.3309C= (p.Phe1103=) c.7824C= (p.Phe2608=) | |
5 | g.13776590G>T | CA359209031 | DNAH5 | c.9222C>A (p.Phe3074Leu) c.9177C>A (p.Phe3059Leu) c.9330C>A (p.Phe3110Leu) c.8235C>A (p.Phe2745Leu) c.4419C>A (p.Phe1473Leu) c.3972C>A (p.Phe1324Leu) c.3309C>A (p.Phe1103Leu) c.7824C>A (p.Phe2608Leu) | |
5 | g.13776591A>C | CA359209032 | DNAH5 | c.9221T>G (p.Phe3074Cys) c.9176T>G (p.Phe3059Cys) c.9329T>G (p.Phe3110Cys) c.8234T>G (p.Phe2745Cys) c.4418T>G (p.Phe1473Cys) c.3971T>G (p.Phe1324Cys) c.3308T>G (p.Phe1103Cys) c.7823T>G (p.Phe2608Cys) | |
5 | g.13776591A>G | CA359209039 | DNAH5 | c.9221T>C (p.Phe3074Ser) c.9176T>C (p.Phe3059Ser) c.9329T>C (p.Phe3110Ser) c.8234T>C (p.Phe2745Ser) c.4418T>C (p.Phe1473Ser) c.3971T>C (p.Phe1324Ser) c.3308T>C (p.Phe1103Ser) c.7823T>C (p.Phe2608Ser) | |
5 | g.13776591A>T | CA359209041 | DNAH5 | c.9221T>A (p.Phe3074Tyr) c.9176T>A (p.Phe3059Tyr) c.9329T>A (p.Phe3110Tyr) c.8234T>A (p.Phe2745Tyr) c.4418T>A (p.Phe1473Tyr) c.3971T>A (p.Phe1324Tyr) c.3308T>A (p.Phe1103Tyr) c.7823T>A (p.Phe2608Tyr) | |
5 | g.13776592A>C | CA359209062 | DNAH5 | c.9220T>G (p.Phe3074Val) c.9175T>G (p.Phe3059Val) c.9328T>G (p.Phe3110Val) c.8233T>G (p.Phe2745Val) c.4417T>G (p.Phe1473Val) c.3970T>G (p.Phe1324Val) c.3307T>G (p.Phe1103Val) c.7822T>G (p.Phe2608Val) | |
5 | g.13776592A>G | CA359209044 | DNAH5 | c.9220T>C (p.Phe3074Leu) c.9175T>C (p.Phe3059Leu) c.9328T>C (p.Phe3110Leu) c.8233T>C (p.Phe2745Leu) c.4417T>C (p.Phe1473Leu) c.3970T>C (p.Phe1324Leu) c.3307T>C (p.Phe1103Leu) c.7822T>C (p.Phe2608Leu) | |
5 | g.13776592A>T | CA359209057 | DNAH5 | c.9220T>A (p.Phe3074Ile) c.9175T>A (p.Phe3059Ile) c.9328T>A (p.Phe3110Ile) c.8233T>A (p.Phe2745Ile) c.4417T>A (p.Phe1473Ile) c.3970T>A (p.Phe1324Ile) c.3307T>A (p.Phe1103Ile) c.7822T>A (p.Phe2608Ile) | ClinVar gnomAD v4 |
5 | g.13776593G>A | CA443535626 | DNAH5 | c.9219C>T (p.Tyr3073=) c.9174C>T (p.Tyr3058=) c.9327C>T (p.Tyr3109=) c.8232C>T (p.Tyr2744=) c.4416C>T (p.Tyr1472=) c.3969C>T (p.Tyr1323=) c.3306C>T (p.Tyr1102=) c.7821C>T (p.Tyr2607=) | |
5 | g.13776593G>C | CA359209063 | DNAH5 | c.9219C>G (p.Tyr3073Ter) c.9174C>G (p.Tyr3058Ter) c.9327C>G (p.Tyr3109Ter) c.8232C>G (p.Tyr2744Ter) c.4416C>G (p.Tyr1472Ter) c.3969C>G (p.Tyr1323Ter) c.3306C>G (p.Tyr1102Ter) c.7821C>G (p.Tyr2607Ter) | |
5 | g.13776593G>T | CA359209064 | DNAH5 | c.9219C>A (p.Tyr3073Ter) c.9174C>A (p.Tyr3058Ter) c.9327C>A (p.Tyr3109Ter) c.8232C>A (p.Tyr2744Ter) c.4416C>A (p.Tyr1472Ter) c.3969C>A (p.Tyr1323Ter) c.3306C>A (p.Tyr1102Ter) c.7821C>A (p.Tyr2607Ter) | |
5 | g.13776594T>A | CA359209068 | DNAH5 | c.9218A>T (p.Tyr3073Phe) c.9173A>T (p.Tyr3058Phe) c.9326A>T (p.Tyr3109Phe) c.8231A>T (p.Tyr2744Phe) c.4415A>T (p.Tyr1472Phe) c.3968A>T (p.Tyr1323Phe) c.3305A>T (p.Tyr1102Phe) c.7820A>T (p.Tyr2607Phe) | |
5 | g.13776594T>C | CA334731 | DNAH5 | c.9218A>G (p.Tyr3073Cys) c.9173A>G (p.Tyr3058Cys) c.9326A>G (p.Tyr3109Cys) c.8231A>G (p.Tyr2744Cys) c.4415A>G (p.Tyr1472Cys) c.3968A>G (p.Tyr1323Cys) c.3305A>G (p.Tyr1102Cys) c.7820A>G (p.Tyr2607Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13776594T>G | CA359209070 | DNAH5 | c.9218A>C (p.Tyr3073Ser) c.9173A>C (p.Tyr3058Ser) c.9326A>C (p.Tyr3109Ser) c.8231A>C (p.Tyr2744Ser) c.4415A>C (p.Tyr1472Ser) c.3968A>C (p.Tyr1323Ser) c.3305A>C (p.Tyr1102Ser) c.7820A>C (p.Tyr2607Ser) | |
5 | g.13776594T= | CA1528435238 | DNAH5 | c.9218A= (p.Tyr3073=) c.9173A= (p.Tyr3058=) c.9326A= (p.Tyr3109=) c.8231A= (p.Tyr2744=) c.4415A= (p.Tyr1472=) c.3968A= (p.Tyr1323=) c.3305A= (p.Tyr1102=) c.7820A= (p.Tyr2607=) | |
5 | g.13776595A>C | CA359209071 | DNAH5 | c.9217T>G (p.Tyr3073Asp) c.9172T>G (p.Tyr3058Asp) c.9325T>G (p.Tyr3109Asp) c.8230T>G (p.Tyr2744Asp) c.4414T>G (p.Tyr1472Asp) c.3967T>G (p.Tyr1323Asp) c.3304T>G (p.Tyr1102Asp) c.7819T>G (p.Tyr2607Asp) | |
5 | g.13776595A>G | CA359209073 | DNAH5 | c.9217T>C (p.Tyr3073His) c.9172T>C (p.Tyr3058His) c.9325T>C (p.Tyr3109His) c.8230T>C (p.Tyr2744His) c.4414T>C (p.Tyr1472His) c.3967T>C (p.Tyr1323His) c.3304T>C (p.Tyr1102His) c.7819T>C (p.Tyr2607His) | |
5 | g.13776595A>T | CA359209076 | DNAH5 | c.9217T>A (p.Tyr3073Asn) c.9172T>A (p.Tyr3058Asn) c.9325T>A (p.Tyr3109Asn) c.8230T>A (p.Tyr2744Asn) c.4414T>A (p.Tyr1472Asn) c.3967T>A (p.Tyr1323Asn) c.3304T>A (p.Tyr1102Asn) c.7819T>A (p.Tyr2607Asn) | |
5 | g.13776596G>A | CA443535629 | DNAH5 | c.9216C>T (p.Asp3072=) c.9171C>T (p.Asp3057=) c.9324C>T (p.Asp3108=) c.8229C>T (p.Asp2743=) c.4413C>T (p.Asp1471=) c.3966C>T (p.Asp1322=) c.3303C>T (p.Asp1101=) c.7818C>T (p.Asp2606=) | ClinVar dbSNP |
5 | g.13776596G>C | CA3202593 | DNAH5 | c.9216C>G (p.Asp3072Glu) c.9171C>G (p.Asp3057Glu) c.9324C>G (p.Asp3108Glu) c.8229C>G (p.Asp2743Glu) c.4413C>G (p.Asp1471Glu) c.3966C>G (p.Asp1322Glu) c.3303C>G (p.Asp1101Glu) c.7818C>G (p.Asp2606Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13776596G= | CA1528435244 | DNAH5 | c.9216C= (p.Asp3072=) c.9171C= (p.Asp3057=) c.9324C= (p.Asp3108=) c.8229C= (p.Asp2743=) c.4413C= (p.Asp1471=) c.3966C= (p.Asp1322=) c.3303C= (p.Asp1101=) c.7818C= (p.Asp2606=) | |
5 | g.13776596G>T | CA359209079 | DNAH5 | c.9216C>A (p.Asp3072Glu) c.9171C>A (p.Asp3057Glu) c.9324C>A (p.Asp3108Glu) c.8229C>A (p.Asp2743Glu) c.4413C>A (p.Asp1471Glu) c.3966C>A (p.Asp1322Glu) c.3303C>A (p.Asp1101Glu) c.7818C>A (p.Asp2606Glu) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13776597T>A | CA359209088 | DNAH5 | c.9215A>T (p.Asp3072Val) c.9170A>T (p.Asp3057Val) c.9323A>T (p.Asp3108Val) c.8228A>T (p.Asp2743Val) c.4412A>T (p.Asp1471Val) c.3965A>T (p.Asp1322Val) c.3302A>T (p.Asp1101Val) c.7817A>T (p.Asp2606Val) | |
5 | g.13776597T>C | CA359209087 | DNAH5 | c.9215A>G (p.Asp3072Gly) c.9170A>G (p.Asp3057Gly) c.9323A>G (p.Asp3108Gly) c.8228A>G (p.Asp2743Gly) c.4412A>G (p.Asp1471Gly) c.3965A>G (p.Asp1322Gly) c.3302A>G (p.Asp1101Gly) c.7817A>G (p.Asp2606Gly) | |
5 | g.13776597T>G | CA359209083 | DNAH5 | c.9215A>C (p.Asp3072Ala) c.9170A>C (p.Asp3057Ala) c.9323A>C (p.Asp3108Ala) c.8228A>C (p.Asp2743Ala) c.4412A>C (p.Asp1471Ala) c.3965A>C (p.Asp1322Ala) c.3302A>C (p.Asp1101Ala) c.7817A>C (p.Asp2606Ala) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13776597T= | CA1528435250 | DNAH5 | c.9215A= (p.Asp3072=) c.9170A= (p.Asp3057=) c.9323A= (p.Asp3108=) c.8228A= (p.Asp2743=) c.4412A= (p.Asp1471=) c.3965A= (p.Asp1322=) c.3302A= (p.Asp1101=) c.7817A= (p.Asp2606=) | |
5 | g.13776598C>A | CA359209089 | DNAH5 | c.9214G>T (p.Asp3072Tyr) c.9169G>T (p.Asp3057Tyr) c.9322G>T (p.Asp3108Tyr) c.8227G>T (p.Asp2743Tyr) c.4411G>T (p.Asp1471Tyr) c.3964G>T (p.Asp1322Tyr) c.3301G>T (p.Asp1101Tyr) c.7816G>T (p.Asp2606Tyr) | gnomAD v4 |
5 | g.13776598C= | CA1528435254 | DNAH5 | c.9214G= (p.Asp3072=) c.9169G= (p.Asp3057=) c.9322G= (p.Asp3108=) c.8227G= (p.Asp2743=) c.4411G= (p.Asp1471=) c.3964G= (p.Asp1322=) c.3301G= (p.Asp1101=) c.7816G= (p.Asp2606=) | |
5 | g.13776598C>G | CA359209100 | DNAH5 | c.9214G>C (p.Asp3072His) c.9169G>C (p.Asp3057His) c.9322G>C (p.Asp3108His) c.8227G>C (p.Asp2743His) c.4411G>C (p.Asp1471His) c.3964G>C (p.Asp1322His) c.3301G>C (p.Asp1101His) c.7816G>C (p.Asp2606His) | |
5 | g.13776598C>T | CA3202594 | DNAH5 | c.9214G>A (p.Asp3072Asn) c.9169G>A (p.Asp3057Asn) c.9322G>A (p.Asp3108Asn) c.8227G>A (p.Asp2743Asn) c.4411G>A (p.Asp1471Asn) c.3964G>A (p.Asp1322Asn) c.3301G>A (p.Asp1101Asn) c.7816G>A (p.Asp2606Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13776599G>A | CA3202595 | DNAH5 | c.9213C>T (p.His3071=) c.9168C>T (p.His3056=) c.9321C>T (p.His3107=) c.8226C>T (p.His2742=) c.4410C>T (p.His1470=) c.3963C>T (p.His1321=) c.3300C>T (p.His1100=) c.7815C>T (p.His2605=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13776599G>C | CA359209108 | DNAH5 | c.9213C>G (p.His3071Gln) c.9168C>G (p.His3056Gln) c.9321C>G (p.His3107Gln) c.8226C>G (p.His2742Gln) c.4410C>G (p.His1470Gln) c.3963C>G (p.His1321Gln) c.3300C>G (p.His1100Gln) c.7815C>G (p.His2605Gln) | |
5 | g.13776599G= | CA1528435260 | DNAH5 | c.9213C= (p.His3071=) c.9168C= (p.His3056=) c.9321C= (p.His3107=) c.8226C= (p.His2742=) c.4410C= (p.His1470=) c.3963C= (p.His1321=) c.3300C= (p.His1100=) c.7815C= (p.His2605=) | |
5 | g.13776599G>T | CA359209113 | DNAH5 | c.9213C>A (p.His3071Gln) c.9168C>A (p.His3056Gln) c.9321C>A (p.His3107Gln) c.8226C>A (p.His2742Gln) c.4410C>A (p.His1470Gln) c.3963C>A (p.His1321Gln) c.3300C>A (p.His1100Gln) c.7815C>A (p.His2605Gln) | |
5 | g.13776600T>A | CA359209116 | DNAH5 | c.9212A>T (p.His3071Leu) c.9167A>T (p.His3056Leu) c.9320A>T (p.His3107Leu) c.8225A>T (p.His2742Leu) c.4409A>T (p.His1470Leu) c.3962A>T (p.His1321Leu) c.3299A>T (p.His1100Leu) c.7814A>T (p.His2605Leu) | |
5 | g.13776600T>C | CA359209117 | DNAH5 | c.9212A>G (p.His3071Arg) c.9167A>G (p.His3056Arg) c.9320A>G (p.His3107Arg) c.8225A>G (p.His2742Arg) c.4409A>G (p.His1470Arg) c.3962A>G (p.His1321Arg) c.3299A>G (p.His1100Arg) c.7814A>G (p.His2605Arg) | |
5 | g.13776600T>G | CA359209119 | DNAH5 | c.9212A>C (p.His3071Pro) c.9167A>C (p.His3056Pro) c.9320A>C (p.His3107Pro) c.8225A>C (p.His2742Pro) c.4409A>C (p.His1470Pro) c.3962A>C (p.His1321Pro) c.3299A>C (p.His1100Pro) c.7814A>C (p.His2605Pro) | |
5 | g.13776601G>A | CA359209124 | DNAH5 | c.9211C>T (p.His3071Tyr) c.9166C>T (p.His3056Tyr) c.9319C>T (p.His3107Tyr) c.8224C>T (p.His2742Tyr) c.4408C>T (p.His1470Tyr) c.3961C>T (p.His1321Tyr) c.3298C>T (p.His1100Tyr) c.7813C>T (p.His2605Tyr) | |
5 | g.13776601G>C | CA359209130 | DNAH5 | c.9211C>G (p.His3071Asp) c.9166C>G (p.His3056Asp) c.9319C>G (p.His3107Asp) c.8224C>G (p.His2742Asp) c.4408C>G (p.His1470Asp) c.3961C>G (p.His1321Asp) c.3298C>G (p.His1100Asp) c.7813C>G (p.His2605Asp) | |
5 | g.13776601G>T | CA359209133 | DNAH5 | c.9211C>A (p.His3071Asn) c.9166C>A (p.His3056Asn) c.9319C>A (p.His3107Asn) c.8224C>A (p.His2742Asn) c.4408C>A (p.His1470Asn) c.3961C>A (p.His1321Asn) c.3298C>A (p.His1100Asn) c.7813C>A (p.His2605Asn) | gnomAD v4 COSMIC |
5 | g.13776602C>A | CA443535637 | DNAH5 | c.9210G>T (p.Leu3070=) c.9165G>T (p.Leu3055=) c.9318G>T (p.Leu3106=) c.8223G>T (p.Leu2741=) c.4407G>T (p.Leu1469=) c.3960G>T (p.Leu1320=) c.3297G>T (p.Leu1099=) c.7812G>T (p.Leu2604=) | ClinVar dbSNP |
5 | g.13776602C= | CA1528435270 | DNAH5 | c.9210G= (p.Leu3070=) c.9165G= (p.Leu3055=) c.9318G= (p.Leu3106=) c.8223G= (p.Leu2741=) c.4407G= (p.Leu1469=) c.3960G= (p.Leu1320=) c.3297G= (p.Leu1099=) c.7812G= (p.Leu2604=) | |
5 | g.13776602C>G | CA443535638 | DNAH5 | c.9210G>C (p.Leu3070=) c.9165G>C (p.Leu3055=) c.9318G>C (p.Leu3106=) c.8223G>C (p.Leu2741=) c.4407G>C (p.Leu1469=) c.3960G>C (p.Leu1320=) c.3297G>C (p.Leu1099=) c.7812G>C (p.Leu2604=) | ClinVar dbSNP |
5 | g.13776602C>T | CA443535639 | DNAH5 | c.9210G>A (p.Leu3070=) c.9165G>A (p.Leu3055=) c.9318G>A (p.Leu3106=) c.8223G>A (p.Leu2741=) c.4407G>A (p.Leu1469=) c.3960G>A (p.Leu1320=) c.3297G>A (p.Leu1099=) c.7812G>A (p.Leu2604=) | |
5 | g.13776602_13776615delinsCAGGTTCTCATTGG | CA1528435272 | DNAH5 | c.9197_9210delinsCCAATGAGAACCTG (p.Thr3066=) c.9152_9165delinsCCAATGAGAACCTG (p.Thr3051=) c.9305_9318delinsCCAATGAGAACCTG (p.Thr3102=) c.8210_8223delinsCCAATGAGAACCTG (p.Thr2737=) c.4394_4407delinsCCAATGAGAACCTG (p.Thr1465=) c.3947_3960delinsCCAATGAGAACCTG (p.Thr1316=) c.3284_3297delinsCCAATGAGAACCTG (p.Thr1095=) c.7799_7812delinsCCAATGAGAACCTG (p.Thr2600=) | |
5 | g.13776603A>C | CA359209139 | DNAH5 | c.9209T>G (p.Leu3070Arg) c.9164T>G (p.Leu3055Arg) c.9317T>G (p.Leu3106Arg) c.8222T>G (p.Leu2741Arg) c.4406T>G (p.Leu1469Arg) c.3959T>G (p.Leu1320Arg) c.3296T>G (p.Leu1099Arg) c.7811T>G (p.Leu2604Arg) | |
5 | g.13776603A>G | CA359209136 | DNAH5 | c.9209T>C (p.Leu3070Pro) c.9164T>C (p.Leu3055Pro) c.9317T>C (p.Leu3106Pro) c.8222T>C (p.Leu2741Pro) c.4406T>C (p.Leu1469Pro) c.3959T>C (p.Leu1320Pro) c.3296T>C (p.Leu1099Pro) c.7811T>C (p.Leu2604Pro) | |
5 | g.13776603A>T | CA359209137 | DNAH5 | c.9209T>A (p.Leu3070Gln) c.9164T>A (p.Leu3055Gln) c.9317T>A (p.Leu3106Gln) c.8222T>A (p.Leu2741Gln) c.4406T>A (p.Leu1469Gln) c.3959T>A (p.Leu1320Gln) c.3296T>A (p.Leu1099Gln) c.7811T>A (p.Leu2604Gln) | |
5 | g.13776603_13776615del | CA1528435275 | DNAH5 | c.9197_9209del (p.Thr3066SerfsTer6) c.9152_9164del (p.Thr3051SerfsTer6) c.9305_9317del (p.Thr3102SerfsTer6) c.8210_8222del (p.Thr2737SerfsTer6) c.4394_4406del (p.Thr1465SerfsTer6) c.3947_3959del (p.Thr1316SerfsTer6) c.3284_3296del (p.Thr1095SerfsTer6) c.7799_7811del (p.Thr2600SerfsTer6) | dbSNP |
5 | g.13776604G>A | CA443535641 | DNAH5 | c.9208C>T (p.Leu3070=) c.9163C>T (p.Leu3055=) c.9316C>T (p.Leu3106=) c.8221C>T (p.Leu2741=) c.4405C>T (p.Leu1469=) c.3958C>T (p.Leu1320=) c.3295C>T (p.Leu1099=) c.7810C>T (p.Leu2604=) | |
5 | g.13776604G>C | CA359209140 | DNAH5 | c.9208C>G (p.Leu3070Val) c.9163C>G (p.Leu3055Val) c.9316C>G (p.Leu3106Val) c.8221C>G (p.Leu2741Val) c.4405C>G (p.Leu1469Val) c.3958C>G (p.Leu1320Val) c.3295C>G (p.Leu1099Val) c.7810C>G (p.Leu2604Val) | |
5 | g.13776604G>T | CA359209144 | DNAH5 | c.9208C>A (p.Leu3070Met) c.9163C>A (p.Leu3055Met) c.9316C>A (p.Leu3106Met) c.8221C>A (p.Leu2741Met) c.4405C>A (p.Leu1469Met) c.3958C>A (p.Leu1320Met) c.3295C>A (p.Leu1099Met) c.7810C>A (p.Leu2604Met) | |
5 | g.13776605G>A | CA443535643 | DNAH5 | c.9207C>T (p.Asn3069=) c.9162C>T (p.Asn3054=) c.9315C>T (p.Asn3105=) c.8220C>T (p.Asn2740=) c.4404C>T (p.Asn1468=) c.3957C>T (p.Asn1319=) c.3294C>T (p.Asn1098=) c.7809C>T (p.Asn2603=) | gnomAD v4 |
5 | g.13776605G>C | CA359209147 | DNAH5 | c.9207C>G (p.Asn3069Lys) c.9162C>G (p.Asn3054Lys) c.9315C>G (p.Asn3105Lys) c.8220C>G (p.Asn2740Lys) c.4404C>G (p.Asn1468Lys) c.3957C>G (p.Asn1319Lys) c.3294C>G (p.Asn1098Lys) c.7809C>G (p.Asn2603Lys) | |
5 | g.13776605G>T | CA359209148 | DNAH5 | c.9207C>A (p.Asn3069Lys) c.9162C>A (p.Asn3054Lys) c.9315C>A (p.Asn3105Lys) c.8220C>A (p.Asn2740Lys) c.4404C>A (p.Asn1468Lys) c.3957C>A (p.Asn1319Lys) c.3294C>A (p.Asn1098Lys) c.7809C>A (p.Asn2603Lys) | gnomAD v4 COSMIC |
5 | g.13776606T>A | CA359209154 | DNAH5 | c.9206A>T (p.Asn3069Ile) c.9161A>T (p.Asn3054Ile) c.9314A>T (p.Asn3105Ile) c.8219A>T (p.Asn2740Ile) c.4403A>T (p.Asn1468Ile) c.3956A>T (p.Asn1319Ile) c.3293A>T (p.Asn1098Ile) c.7808A>T (p.Asn2603Ile) | |
5 | g.13776606T>C | CA359209156 | DNAH5 | c.9206A>G (p.Asn3069Ser) c.9161A>G (p.Asn3054Ser) c.9314A>G (p.Asn3105Ser) c.8219A>G (p.Asn2740Ser) c.4403A>G (p.Asn1468Ser) c.3956A>G (p.Asn1319Ser) c.3293A>G (p.Asn1098Ser) c.7808A>G (p.Asn2603Ser) | gnomAD v4 COSMIC |
5 | g.13776606T>G | CA359209160 | DNAH5 | c.9206A>C (p.Asn3069Thr) c.9161A>C (p.Asn3054Thr) c.9314A>C (p.Asn3105Thr) c.8219A>C (p.Asn2740Thr) c.4403A>C (p.Asn1468Thr) c.3956A>C (p.Asn1319Thr) c.3293A>C (p.Asn1098Thr) c.7808A>C (p.Asn2603Thr) | |
5 | g.13776607T>A | CA359209163 | DNAH5 | c.9205A>T (p.Asn3069Tyr) c.9160A>T (p.Asn3054Tyr) c.9313A>T (p.Asn3105Tyr) c.8218A>T (p.Asn2740Tyr) c.4402A>T (p.Asn1468Tyr) c.3955A>T (p.Asn1319Tyr) c.3292A>T (p.Asn1098Tyr) c.7807A>T (p.Asn2603Tyr) | |
5 | g.13776607T>C | CA359209167 | DNAH5 | c.9205A>G (p.Asn3069Asp) c.9160A>G (p.Asn3054Asp) c.9313A>G (p.Asn3105Asp) c.8218A>G (p.Asn2740Asp) c.4402A>G (p.Asn1468Asp) c.3955A>G (p.Asn1319Asp) c.3292A>G (p.Asn1098Asp) c.7807A>G (p.Asn2603Asp) | |
5 | g.13776607T>G | CA359209169 | DNAH5 | c.9205A>C (p.Asn3069His) c.9160A>C (p.Asn3054His) c.9313A>C (p.Asn3105His) c.8218A>C (p.Asn2740His) c.4402A>C (p.Asn1468His) c.3955A>C (p.Asn1319His) c.3292A>C (p.Asn1098His) c.7807A>C (p.Asn2603His) | |
5 | g.13776608C>A | CA359209172 | DNAH5 | c.9204G>T (p.Glu3068Asp) c.9159G>T (p.Glu3053Asp) c.9312G>T (p.Glu3104Asp) c.8217G>T (p.Glu2739Asp) c.4401G>T (p.Glu1467Asp) c.3954G>T (p.Glu1318Asp) c.3291G>T (p.Glu1097Asp) c.7806G>T (p.Glu2602Asp) | |
5 | g.13776608C>G | CA359209173 | DNAH5 | c.9204G>C (p.Glu3068Asp) c.9159G>C (p.Glu3053Asp) c.9312G>C (p.Glu3104Asp) c.8217G>C (p.Glu2739Asp) c.4401G>C (p.Glu1467Asp) c.3954G>C (p.Glu1318Asp) c.3291G>C (p.Glu1097Asp) c.7806G>C (p.Glu2602Asp) | |
5 | g.13776608C>T | CA443535649 | DNAH5 | c.9204G>A (p.Glu3068=) c.9159G>A (p.Glu3053=) c.9312G>A (p.Glu3104=) c.8217G>A (p.Glu2739=) c.4401G>A (p.Glu1467=) c.3954G>A (p.Glu1318=) c.3291G>A (p.Glu1097=) c.7806G>A (p.Glu2602=) | ClinVar dbSNP gnomAD v4 |
5 | g.13776609T>A | CA359209182 | DNAH5 | c.9203A>T (p.Glu3068Val) c.9158A>T (p.Glu3053Val) c.9311A>T (p.Glu3104Val) c.8216A>T (p.Glu2739Val) c.4400A>T (p.Glu1467Val) c.3953A>T (p.Glu1318Val) c.3290A>T (p.Glu1097Val) c.7805A>T (p.Glu2602Val) | |
5 | g.13776609T>C | CA3202596 | DNAH5 | c.9203A>G (p.Glu3068Gly) c.9158A>G (p.Glu3053Gly) c.9311A>G (p.Glu3104Gly) c.8216A>G (p.Glu2739Gly) c.4400A>G (p.Glu1467Gly) c.3953A>G (p.Glu1318Gly) c.3290A>G (p.Glu1097Gly) c.7805A>G (p.Glu2602Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13776609T>G | CA359209176 | DNAH5 | c.9203A>C (p.Glu3068Ala) c.9158A>C (p.Glu3053Ala) c.9311A>C (p.Glu3104Ala) c.8216A>C (p.Glu2739Ala) c.4400A>C (p.Glu1467Ala) c.3953A>C (p.Glu1318Ala) c.3290A>C (p.Glu1097Ala) c.7805A>C (p.Glu2602Ala) | |
5 | g.13776609T= | CA1528435279 | DNAH5 | c.9203A= (p.Glu3068=) c.9158A= (p.Glu3053=) c.9311A= (p.Glu3104=) c.8216A= (p.Glu2739=) c.4400A= (p.Glu1467=) c.3953A= (p.Glu1318=) c.3290A= (p.Glu1097=) c.7805A= (p.Glu2602=) | |
5 | g.13776610C>A | CA359209185 | DNAH5 | c.9202G>T (p.Glu3068Ter) c.9157G>T (p.Glu3053Ter) c.9310G>T (p.Glu3104Ter) c.8215G>T (p.Glu2739Ter) c.4399G>T (p.Glu1467Ter) c.3952G>T (p.Glu1318Ter) c.3289G>T (p.Glu1097Ter) c.7804G>T (p.Glu2602Ter) | |
5 | g.13776610C>G | CA359209183 | DNAH5 | c.9202G>C (p.Glu3068Gln) c.9157G>C (p.Glu3053Gln) c.9310G>C (p.Glu3104Gln) c.8215G>C (p.Glu2739Gln) c.4399G>C (p.Glu1467Gln) c.3952G>C (p.Glu1318Gln) c.3289G>C (p.Glu1097Gln) c.7804G>C (p.Glu2602Gln) | |
5 | g.13776610C>T | CA359209184 | DNAH5 | c.9202G>A (p.Glu3068Lys) c.9157G>A (p.Glu3053Lys) c.9310G>A (p.Glu3104Lys) c.8215G>A (p.Glu2739Lys) c.4399G>A (p.Glu1467Lys) c.3952G>A (p.Glu1318Lys) c.3289G>A (p.Glu1097Lys) c.7804G>A (p.Glu2602Lys) | |
5 | g.13776611A>C | CA359209186 | DNAH5 | c.9201T>G (p.Asn3067Lys) c.9156T>G (p.Asn3052Lys) c.9309T>G (p.Asn3103Lys) c.8214T>G (p.Asn2738Lys) c.4398T>G (p.Asn1466Lys) c.3951T>G (p.Asn1317Lys) c.3288T>G (p.Asn1096Lys) c.7803T>G (p.Asn2601Lys) | gnomAD v4 |
5 | g.13776611A>G | CA443535651 | DNAH5 | c.9201T>C (p.Asn3067=) c.9156T>C (p.Asn3052=) c.9309T>C (p.Asn3103=) c.8214T>C (p.Asn2738=) c.4398T>C (p.Asn1466=) c.3951T>C (p.Asn1317=) c.3288T>C (p.Asn1096=) c.7803T>C (p.Asn2601=) | ClinVar |
5 | g.13776611A>T | CA359209187 | DNAH5 | c.9201T>A (p.Asn3067Lys) c.9156T>A (p.Asn3052Lys) c.9309T>A (p.Asn3103Lys) c.8214T>A (p.Asn2738Lys) c.4398T>A (p.Asn1466Lys) c.3951T>A (p.Asn1317Lys) c.3288T>A (p.Asn1096Lys) c.7803T>A (p.Asn2601Lys) | gnomAD v4 |
5 | g.13776612T>A | CA359209190 | DNAH5 | c.9200A>T (p.Asn3067Ile) c.9155A>T (p.Asn3052Ile) c.9308A>T (p.Asn3103Ile) c.8213A>T (p.Asn2738Ile) c.4397A>T (p.Asn1466Ile) c.3950A>T (p.Asn1317Ile) c.3287A>T (p.Asn1096Ile) c.7802A>T (p.Asn2601Ile) | |
5 | g.13776612T>C | CA113937736 | DNAH5 | c.9200A>G (p.Asn3067Ser) c.9155A>G (p.Asn3052Ser) c.9308A>G (p.Asn3103Ser) c.8213A>G (p.Asn2738Ser) c.4397A>G (p.Asn1466Ser) c.3950A>G (p.Asn1317Ser) c.3287A>G (p.Asn1096Ser) c.7802A>G (p.Asn2601Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13776612T>G | CA359209192 | DNAH5 | c.9200A>C (p.Asn3067Thr) c.9155A>C (p.Asn3052Thr) c.9308A>C (p.Asn3103Thr) c.8213A>C (p.Asn2738Thr) c.4397A>C (p.Asn1466Thr) c.3950A>C (p.Asn1317Thr) c.3287A>C (p.Asn1096Thr) c.7802A>C (p.Asn2601Thr) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13776612T= | CA1528435287 | DNAH5 | c.9200A= (p.Asn3067=) c.9155A= (p.Asn3052=) c.9308A= (p.Asn3103=) c.8213A= (p.Asn2738=) c.4397A= (p.Asn1466=) c.3950A= (p.Asn1317=) c.3287A= (p.Asn1096=) c.7802A= (p.Asn2601=) | |
5 | g.13776613T>A | CA359209193 | DNAH5 | c.9199A>T (p.Asn3067Tyr) c.9154A>T (p.Asn3052Tyr) c.9307A>T (p.Asn3103Tyr) c.8212A>T (p.Asn2738Tyr) c.4396A>T (p.Asn1466Tyr) c.3949A>T (p.Asn1317Tyr) c.3286A>T (p.Asn1096Tyr) c.7801A>T (p.Asn2601Tyr) | |
5 | g.13776613T>C | CA359209195 | DNAH5 | c.9199A>G (p.Asn3067Asp) c.9154A>G (p.Asn3052Asp) c.9307A>G (p.Asn3103Asp) c.8212A>G (p.Asn2738Asp) c.4396A>G (p.Asn1466Asp) c.3949A>G (p.Asn1317Asp) c.3286A>G (p.Asn1096Asp) c.7801A>G (p.Asn2601Asp) | |
5 | g.13776613T>G | CA359209197 | DNAH5 | c.9199A>C (p.Asn3067His) c.9154A>C (p.Asn3052His) c.9307A>C (p.Asn3103His) c.8212A>C (p.Asn2738His) c.4396A>C (p.Asn1466His) c.3949A>C (p.Asn1317His) c.3286A>C (p.Asn1096His) c.7801A>C (p.Asn2601His) | |
5 | g.13776613_13776614delinsTG | CA1528435290 | DNAH5 | c.9198_9199delinsCA (p.Thr3066=) c.9153_9154delinsCA (p.Thr3051=) c.9306_9307delinsCA (p.Thr3102=) c.8211_8212delinsCA (p.Thr2737=) c.4395_4396delinsCA (p.Thr1465=) c.3948_3949delinsCA (p.Thr1316=) c.3285_3286delinsCA (p.Thr1095=) c.7800_7801delinsCA (p.Thr2600=) | |
5 | g.13776614G>A | CA443535658 | DNAH5 | c.9198C>T (p.Thr3066=) c.9153C>T (p.Thr3051=) c.9306C>T (p.Thr3102=) c.8211C>T (p.Thr2737=) c.4395C>T (p.Thr1465=) c.3948C>T (p.Thr1316=) c.3285C>T (p.Thr1095=) c.7800C>T (p.Thr2600=) | |
5 | g.13776614G>C | CA443535657 | DNAH5 | c.9198C>G (p.Thr3066=) c.9153C>G (p.Thr3051=) c.9306C>G (p.Thr3102=) c.8211C>G (p.Thr2737=) c.4395C>G (p.Thr1465=) c.3948C>G (p.Thr1316=) c.3285C>G (p.Thr1095=) c.7800C>G (p.Thr2600=) | |
5 | g.13776614G>T | CA443535656 | DNAH5 | c.9198C>A (p.Thr3066=) c.9153C>A (p.Thr3051=) c.9306C>A (p.Thr3102=) c.8211C>A (p.Thr2737=) c.4395C>A (p.Thr1465=) c.3948C>A (p.Thr1316=) c.3285C>A (p.Thr1095=) c.7800C>A (p.Thr2600=) | gnomAD v4 |
5 | g.13776615del | CA1528435292 | DNAH5 | c.9198del (p.Asn3067MetfsTer9) c.9153del (p.Asn3052MetfsTer9) c.9306del (p.Asn3103MetfsTer9) c.8211del (p.Asn2738MetfsTer9) c.4395del (p.Asn1466MetfsTer9) c.3948del (p.Asn1317MetfsTer9) c.3285del (p.Asn1096MetfsTer9) c.7800del (p.Asn2601MetfsTer9) | dbSNP |
5 | g.13776615G>A | CA359209199 | DNAH5 | c.9197C>T (p.Thr3066Ile) c.9152C>T (p.Thr3051Ile) c.9305C>T (p.Thr3102Ile) c.8210C>T (p.Thr2737Ile) c.4394C>T (p.Thr1465Ile) c.3947C>T (p.Thr1316Ile) c.3284C>T (p.Thr1095Ile) c.7799C>T (p.Thr2600Ile) | |
5 | g.13776615G>C | CA359209202 | DNAH5 | c.9197C>G (p.Thr3066Ser) c.9152C>G (p.Thr3051Ser) c.9305C>G (p.Thr3102Ser) c.8210C>G (p.Thr2737Ser) c.4394C>G (p.Thr1465Ser) c.3947C>G (p.Thr1316Ser) c.3284C>G (p.Thr1095Ser) c.7799C>G (p.Thr2600Ser) | |
5 | g.13776615G>T | CA359209207 | DNAH5 | c.9197C>A (p.Thr3066Asn) c.9152C>A (p.Thr3051Asn) c.9305C>A (p.Thr3102Asn) c.8210C>A (p.Thr2737Asn) c.4394C>A (p.Thr1465Asn) c.3947C>A (p.Thr1316Asn) c.3284C>A (p.Thr1095Asn) c.7799C>A (p.Thr2600Asn) | |
5 | g.13776616T>A | CA359209224 | DNAH5 | c.9196A>T (p.Thr3066Ser) c.9151A>T (p.Thr3051Ser) c.9304A>T (p.Thr3102Ser) c.8209A>T (p.Thr2737Ser) c.4393A>T (p.Thr1465Ser) c.3946A>T (p.Thr1316Ser) c.3283A>T (p.Thr1095Ser) c.7798A>T (p.Thr2600Ser) | |
5 | g.13776616T>C | CA359209211 | DNAH5 | c.9196A>G (p.Thr3066Ala) c.9151A>G (p.Thr3051Ala) c.9304A>G (p.Thr3102Ala) c.8209A>G (p.Thr2737Ala) c.4393A>G (p.Thr1465Ala) c.3946A>G (p.Thr1316Ala) c.3283A>G (p.Thr1095Ala) c.7798A>G (p.Thr2600Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13776616T>G | CA359209210 | DNAH5 | c.9196A>C (p.Thr3066Pro) c.9151A>C (p.Thr3051Pro) c.9304A>C (p.Thr3102Pro) c.8209A>C (p.Thr2737Pro) c.4393A>C (p.Thr1465Pro) c.3946A>C (p.Thr1316Pro) c.3283A>C (p.Thr1095Pro) c.7798A>C (p.Thr2600Pro) | |
5 | g.13776616T= | CA1528435295 | DNAH5 | c.9196A= (p.Thr3066=) c.9151A= (p.Thr3051=) c.9304A= (p.Thr3102=) c.8209A= (p.Thr2737=) c.4393A= (p.Thr1465=) c.3946A= (p.Thr1316=) c.3283A= (p.Thr1095=) c.7798A= (p.Thr2600=) | |
5 | g.13776617A>C | CA443535662 | DNAH5 | c.9195T>G (p.Pro3065=) c.9150T>G (p.Pro3050=) c.9303T>G (p.Pro3101=) c.8208T>G (p.Pro2736=) c.4392T>G (p.Pro1464=) c.3945T>G (p.Pro1315=) c.3282T>G (p.Pro1094=) c.7797T>G (p.Pro2599=) | |
5 | g.13776617A>G | CA443535665 | DNAH5 | c.9195T>C (p.Pro3065=) c.9150T>C (p.Pro3050=) c.9303T>C (p.Pro3101=) c.8208T>C (p.Pro2736=) c.4392T>C (p.Pro1464=) c.3945T>C (p.Pro1315=) c.3282T>C (p.Pro1094=) c.7797T>C (p.Pro2599=) | |
5 | g.13776617A>T | CA443535663 | DNAH5 | c.9195T>A (p.Pro3065=) c.9150T>A (p.Pro3050=) c.9303T>A (p.Pro3101=) c.8208T>A (p.Pro2736=) c.4392T>A (p.Pro1464=) c.3945T>A (p.Pro1315=) c.3282T>A (p.Pro1094=) c.7797T>A (p.Pro2599=) |