Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.13885948T>CCA2673277311DNAH5c.2743+16A>G (n.2743+16A>G)
c.2698+16A>G (n.2698+16A>G)
n.2950+16A>G
c.2851+16A>G (n.2851+16A>G)
c.1756+16A>G (n.1756+16A>G)
c.1345+16A>G (n.1345+16A>G)
n.2868+16A>G
 gnomAD v4
5g.13885949T>GCA2673277312DNAH5c.2743+15A>C (n.2743+15A>C)
c.2698+15A>C (n.2698+15A>C)
n.2950+15A>C
c.2851+15A>C (n.2851+15A>C)
c.1756+15A>C (n.1756+15A>C)
c.1345+15A>C (n.1345+15A>C)
n.2868+15A>C
 gnomAD v4
5g.13885950A=CA1528483780DNAH5c.2743+14T= (n.2743+14T=)
c.2698+14T= (n.2698+14T=)
n.2950+14T=
c.2851+14T= (n.2851+14T=)
c.1756+14T= (n.1756+14T=)
c.1345+14T= (n.1345+14T=)
n.2868+14T=
5g.13885950A>GCA3204509DNAH5c.2743+14T>C (n.2743+14T>C)
c.2698+14T>C (n.2698+14T>C)
n.2950+14T>C
c.2851+14T>C (n.2851+14T>C)
c.1756+14T>C (n.1756+14T>C)
c.1345+14T>C (n.1345+14T>C)
n.2868+14T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13885951C>TCA2673277313DNAH5c.2743+13G>A (n.2743+13G>A)
c.2698+13G>A (n.2698+13G>A)
n.2950+13G>A
c.2851+13G>A (n.2851+13G>A)
c.1756+13G>A (n.1756+13G>A)
c.1345+13G>A (n.1345+13G>A)
n.2868+13G>A
 ClinVar gnomAD v4
5g.13885952C>ACA2673277314DNAH5c.2743+12G>T (n.2743+12G>T)
c.2698+12G>T (n.2698+12G>T)
n.2950+12G>T
c.2851+12G>T (n.2851+12G>T)
c.1756+12G>T (n.1756+12G>T)
c.1345+12G>T (n.1345+12G>T)
n.2868+12G>T
 ClinVar gnomAD v4
5g.13885952C=CA1528483781DNAH5c.2743+12G= (n.2743+12G=)
c.2698+12G= (n.2698+12G=)
n.2950+12G=
c.2851+12G= (n.2851+12G=)
c.1756+12G= (n.1756+12G=)
c.1345+12G= (n.1345+12G=)
n.2868+12G=
5g.13885952C>TCA557877045DNAH5c.2743+12G>A (n.2743+12G>A)
c.2698+12G>A (n.2698+12G>A)
n.2950+12G>A
c.2851+12G>A (n.2851+12G>A)
c.1756+12G>A (n.1756+12G>A)
c.1345+12G>A (n.1345+12G>A)
n.2868+12G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13885953C=CA1528483782DNAH5c.2743+11G= (n.2743+11G=)
c.2698+11G= (n.2698+11G=)
n.2950+11G=
c.2851+11G= (n.2851+11G=)
c.1756+11G= (n.1756+11G=)
c.1345+11G= (n.1345+11G=)
n.2868+11G=
5g.13885953C>TCA1528483783DNAH5c.2743+11G>A (n.2743+11G>A)
c.2698+11G>A (n.2698+11G>A)
n.2950+11G>A
c.2851+11G>A (n.2851+11G>A)
c.1756+11G>A (n.1756+11G>A)
c.1345+11G>A (n.1345+11G>A)
n.2868+11G>A
 dbSNP
5g.13885954C>TCA2580072160DNAH5c.2743+10G>A (n.2743+10G>A)
c.2698+10G>A (n.2698+10G>A)
n.2950+10G>A
c.2851+10G>A (n.2851+10G>A)
c.1756+10G>A (n.1756+10G>A)
c.1345+10G>A (n.1345+10G>A)
n.2868+10G>A
 ClinVar gnomAD v4
5g.13885955A=CA1528483784DNAH5c.2743+9T= (n.2743+9T=)
c.2698+9T= (n.2698+9T=)
n.2950+9T=
c.2851+9T= (n.2851+9T=)
c.1756+9T= (n.1756+9T=)
c.1345+9T= (n.1345+9T=)
n.2868+9T=
5g.13885955A>GCA3204510DNAH5c.2743+9T>C (n.2743+9T>C)
c.2698+9T>C (n.2698+9T>C)
n.2950+9T>C
c.2851+9T>C (n.2851+9T>C)
c.1756+9T>C (n.1756+9T>C)
c.1345+9T>C (n.1345+9T>C)
n.2868+9T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13885956T>ACA557877046DNAH5c.2743+8A>T (n.2743+8A>T)
c.2698+8A>T (n.2698+8A>T)
n.2950+8A>T
c.2851+8A>T (n.2851+8A>T)
c.1756+8A>T (n.1756+8A>T)
c.1345+8A>T (n.1345+8A>T)
n.2868+8A>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13885956T=CA1528483785DNAH5c.2743+8A= (n.2743+8A=)
c.2698+8A= (n.2698+8A=)
n.2950+8A=
c.2851+8A= (n.2851+8A=)
c.1756+8A= (n.1756+8A=)
c.1345+8A= (n.1345+8A=)
n.2868+8A=
5g.13885959_13885960dupCA2697547073DNAH5c.2743+7_2743+8dup (n.2743+7_2743+8dup)
c.2698+7_2698+8dup (n.2698+7_2698+8dup)
n.2950+7_2950+8dup
c.2851+7_2851+8dup (n.2851+7_2851+8dup)
c.1756+7_1756+8dup (n.1756+7_1756+8dup)
c.1345+7_1345+8dup (n.1345+7_1345+8dup)
n.2868+7_2868+8dup
 ClinVar
5g.13885957C>ACA2499217651DNAH5c.2743+7G>T (n.2743+7G>T)
c.2698+7G>T (n.2698+7G>T)
n.2950+7G>T
c.2851+7G>T (n.2851+7G>T)
c.1756+7G>T (n.1756+7G>T)
c.1345+7G>T (n.1345+7G>T)
n.2868+7G>T
 ClinVar dbSNP
5g.13885957C>GCA2673277315DNAH5c.2743+7G>C (n.2743+7G>C)
c.2698+7G>C (n.2698+7G>C)
n.2950+7G>C
c.2851+7G>C (n.2851+7G>C)
c.1756+7G>C (n.1756+7G>C)
c.1345+7G>C (n.1345+7G>C)
n.2868+7G>C
 gnomAD v4
5g.13885958T>CCA2578270977DNAH5c.2743+6A>G (n.2743+6A>G)
c.2698+6A>G (n.2698+6A>G)
n.2950+6A>G
c.2851+6A>G (n.2851+6A>G)
c.1756+6A>G (n.1756+6A>G)
c.1345+6A>G (n.1345+6A>G)
n.2868+6A>G
5g.13885959C>TCA2839163491DNAH5c.2743+5G>A (n.2743+5G>A)
c.2698+5G>A (n.2698+5G>A)
n.2950+5G>A
c.2851+5G>A (n.2851+5G>A)
c.1756+5G>A (n.1756+5G>A)
c.1345+5G>A (n.1345+5G>A)
n.2868+5G>A
5g.13885961T>ACA3204511DNAH5c.2743+3A>T (n.2743+3A>T)
c.2698+3A>T (n.2698+3A>T)
n.2950+3A>T
c.2851+3A>T (n.2851+3A>T)
c.1756+3A>T (n.1756+3A>T)
c.1345+3A>T (n.1345+3A>T)
n.2868+3A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13885961T>CCA113933702DNAH5c.2743+3A>G (n.2743+3A>G)
c.2698+3A>G (n.2698+3A>G)
n.2950+3A>G
c.2851+3A>G (n.2851+3A>G)
c.1756+3A>G (n.1756+3A>G)
c.1345+3A>G (n.1345+3A>G)
n.2868+3A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13885961T=CA1528483786DNAH5c.2743+3A= (n.2743+3A=)
c.2698+3A= (n.2698+3A=)
n.2950+3A=
c.2851+3A= (n.2851+3A=)
c.1756+3A= (n.1756+3A=)
c.1345+3A= (n.1345+3A=)
n.2868+3A=
5g.13885962A>CCA359196010DNAH5c.2743+2T>G (n.2743+2T>G)
c.2698+2T>G (n.2698+2T>G)
n.2950+2T>G
c.2851+2T>G (n.2851+2T>G)
c.1756+2T>G (n.1756+2T>G)
c.1345+2T>G (n.1345+2T>G)
n.2868+2T>G
5g.13885962A>GCA359196011DNAH5c.2743+2T>C (n.2743+2T>C)
c.2698+2T>C (n.2698+2T>C)
n.2950+2T>C
c.2851+2T>C (n.2851+2T>C)
c.1756+2T>C (n.1756+2T>C)
c.1345+2T>C (n.1345+2T>C)
n.2868+2T>C
5g.13885962A>TCA359196012DNAH5c.2743+2T>A (n.2743+2T>A)
c.2698+2T>A (n.2698+2T>A)
n.2950+2T>A
c.2851+2T>A (n.2851+2T>A)
c.1756+2T>A (n.1756+2T>A)
c.1345+2T>A (n.1345+2T>A)
n.2868+2T>A
5g.13885963C>ACA359196014DNAH5c.2743+1G>T (n.2743+1G>T)
c.2698+1G>T (n.2698+1G>T)
n.2950+1G>T
c.2851+1G>T (n.2851+1G>T)
c.1756+1G>T (n.1756+1G>T)
c.1345+1G>T (n.1345+1G>T)
n.2868+1G>T
5g.13885963C>GCA359196017DNAH5c.2743+1G>C (n.2743+1G>C)
c.2698+1G>C (n.2698+1G>C)
n.2950+1G>C
c.2851+1G>C (n.2851+1G>C)
c.1756+1G>C (n.1756+1G>C)
c.1345+1G>C (n.1345+1G>C)
n.2868+1G>C
5g.13885963C>TCA359196016DNAH5c.2743+1G>A (n.2743+1G>A)
c.2698+1G>A (n.2698+1G>A)
n.2950+1G>A
c.2851+1G>A (n.2851+1G>A)
c.1756+1G>A (n.1756+1G>A)
c.1345+1G>A (n.1345+1G>A)
n.2868+1G>A
 gnomAD v4
5g.13885964C>ACA359196018DNAH5c.2743G>T (p.Ala915Ser)
c.2698G>T (p.Ala900Ser)
n.2950G>T
c.2851G>T (p.Ala951Ser)
c.1756G>T (p.Ala586Ser)
c.1345G>T (p.Ala449Ser)
n.2868G>T
5g.13885964C>GCA359196019DNAH5c.2743G>C (p.Ala915Pro)
c.2698G>C (p.Ala900Pro)
n.2950G>C
c.2851G>C (p.Ala951Pro)
c.1756G>C (p.Ala586Pro)
c.1345G>C (p.Ala449Pro)
n.2868G>C
5g.13885964C>TCA359196021DNAH5c.2743G>A (p.Ala915Thr)
c.2698G>A (p.Ala900Thr)
n.2950G>A
c.2851G>A (p.Ala951Thr)
c.1756G>A (p.Ala586Thr)
c.1345G>A (p.Ala449Thr)
n.2868G>A
 COSMIC
5g.13885965T>ACA443273601DNAH5c.2742A>T (p.Ser914=)
c.2697A>T (p.Ser899=)
n.2949A>T
c.2850A>T (p.Ser950=)
c.1755A>T (p.Ser585=)
c.1344A>T (p.Ser448=)
n.2867A>T
5g.13885965T>CCA443273602DNAH5c.2742A>G (p.Ser914=)
c.2697A>G (p.Ser899=)
n.2949A>G
c.2850A>G (p.Ser950=)
c.1755A>G (p.Ser585=)
c.1344A>G (p.Ser448=)
n.2867A>G
 gnomAD v4
5g.13885965T>GCA443273603DNAH5c.2742A>C (p.Ser914=)
c.2697A>C (p.Ser899=)
n.2949A>C
c.2850A>C (p.Ser950=)
c.1755A>C (p.Ser585=)
c.1344A>C (p.Ser448=)
n.2867A>C
5g.13885966G>ACA359196023DNAH5c.2741C>T (p.Ser914Leu)
c.2696C>T (p.Ser899Leu)
n.2948C>T
c.2849C>T (p.Ser950Leu)
c.1754C>T (p.Ser585Leu)
c.1343C>T (p.Ser448Leu)
n.2866C>T
5g.13885966G>CCA359196027DNAH5c.2741C>G (p.Ser914Ter)
c.2696C>G (p.Ser899Ter)
n.2948C>G
c.2849C>G (p.Ser950Ter)
c.1754C>G (p.Ser585Ter)
c.1343C>G (p.Ser448Ter)
n.2866C>G
 dbSNP
5g.13885966G=CA1528483787DNAH5c.2741C= (p.Ser914=)
c.2696C= (p.Ser899=)
n.2948C=
c.2849C= (p.Ser950=)
c.1754C= (p.Ser585=)
c.1343C= (p.Ser448=)
n.2866C=
5g.13885966G>TCA359196029DNAH5c.2741C>A (p.Ser914Ter)
c.2696C>A (p.Ser899Ter)
n.2948C>A
c.2849C>A (p.Ser950Ter)
c.1754C>A (p.Ser585Ter)
c.1343C>A (p.Ser448Ter)
n.2866C>A
5g.13885967A=CA1528483788DNAH5c.2740T= (p.Ser914=)
c.2695T= (p.Ser899=)
n.2947T=
c.2848T= (p.Ser950=)
c.1753T= (p.Ser585=)
c.1342T= (p.Ser448=)
n.2865T=
5g.13885967A>CCA3204512DNAH5c.2740T>G (p.Ser914Ala)
c.2695T>G (p.Ser899Ala)
n.2947T>G
c.2848T>G (p.Ser950Ala)
c.1753T>G (p.Ser585Ala)
c.1342T>G (p.Ser448Ala)
n.2865T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13885967A>GCA359196030DNAH5c.2740T>C (p.Ser914Pro)
c.2695T>C (p.Ser899Pro)
n.2947T>C
c.2848T>C (p.Ser950Pro)
c.1753T>C (p.Ser585Pro)
c.1342T>C (p.Ser448Pro)
n.2865T>C
5g.13885967A>TCA359196031DNAH5c.2740T>A (p.Ser914Thr)
c.2695T>A (p.Ser899Thr)
n.2947T>A
c.2848T>A (p.Ser950Thr)
c.1753T>A (p.Ser585Thr)
c.1342T>A (p.Ser448Thr)
n.2865T>A
5g.13885968A>CCA359196032DNAH5c.2739T>G (p.Ser913Arg)
c.2694T>G (p.Ser898Arg)
n.2946T>G
c.2847T>G (p.Ser949Arg)
c.1752T>G (p.Ser584Arg)
c.1341T>G (p.Ser447Arg)
n.2864T>G
 ClinVar
5g.13885968A>GCA443273604DNAH5c.2739T>C (p.Ser913=)
c.2694T>C (p.Ser898=)
n.2946T>C
c.2847T>C (p.Ser949=)
c.1752T>C (p.Ser584=)
c.1341T>C (p.Ser447=)
n.2864T>C
 ClinVar dbSNP gnomAD v4
5g.13885968A>TCA359196033DNAH5c.2739T>A (p.Ser913Arg)
c.2694T>A (p.Ser898Arg)
n.2946T>A
c.2847T>A (p.Ser949Arg)
c.1752T>A (p.Ser584Arg)
c.1341T>A (p.Ser447Arg)
n.2864T>A
5g.13885969C>ACA359196034DNAH5c.2738G>T (p.Ser913Ile)
c.2693G>T (p.Ser898Ile)
n.2945G>T
c.2846G>T (p.Ser949Ile)
c.1751G>T (p.Ser584Ile)
c.1340G>T (p.Ser447Ile)
n.2863G>T
5g.13885969C>GCA359196035DNAH5c.2738G>C (p.Ser913Thr)
c.2693G>C (p.Ser898Thr)
n.2945G>C
c.2846G>C (p.Ser949Thr)
c.1751G>C (p.Ser584Thr)
c.1340G>C (p.Ser447Thr)
n.2863G>C
5g.13885969C>TCA359196036DNAH5c.2738G>A (p.Ser913Asn)
c.2693G>A (p.Ser898Asn)
n.2945G>A
c.2846G>A (p.Ser949Asn)
c.1751G>A (p.Ser584Asn)
c.1340G>A (p.Ser447Asn)
n.2863G>A
5g.13885970T>ACA359196039DNAH5c.2737A>T (p.Ser913Cys)
c.2692A>T (p.Ser898Cys)
n.2944A>T
c.2845A>T (p.Ser949Cys)
c.1750A>T (p.Ser584Cys)
c.1339A>T (p.Ser447Cys)
n.2862A>T
 dbSNP gnomAD v3 gnomAD v4
5g.13885970T>CCA359196043DNAH5c.2737A>G (p.Ser913Gly)
c.2692A>G (p.Ser898Gly)
n.2944A>G
c.2845A>G (p.Ser949Gly)
c.1750A>G (p.Ser584Gly)
c.1339A>G (p.Ser447Gly)
n.2862A>G
5g.13885970T>GCA359196041DNAH5c.2737A>C (p.Ser913Arg)
c.2692A>C (p.Ser898Arg)
n.2944A>C
c.2845A>C (p.Ser949Arg)
c.1750A>C (p.Ser584Arg)
c.1339A>C (p.Ser447Arg)
n.2862A>C
5g.13885970T=CA1528483789DNAH5c.2737A= (p.Ser913=)
c.2692A= (p.Ser898=)
n.2944A=
c.2845A= (p.Ser949=)
c.1750A= (p.Ser584=)
c.1339A= (p.Ser447=)
n.2862A=
5g.13885971T>ACA359196045DNAH5c.2736A>T (p.Glu912Asp)
c.2691A>T (p.Glu897Asp)
n.2943A>T
c.2844A>T (p.Glu948Asp)
c.1749A>T (p.Glu583Asp)
c.1338A>T (p.Glu446Asp)
n.2861A>T
5g.13885971T>CCA443273605DNAH5c.2736A>G (p.Glu912=)
c.2691A>G (p.Glu897=)
n.2943A>G
c.2844A>G (p.Glu948=)
c.1749A>G (p.Glu583=)
c.1338A>G (p.Glu446=)
n.2861A>G
5g.13885971T>GCA359196047DNAH5c.2736A>C (p.Glu912Asp)
c.2691A>C (p.Glu897Asp)
n.2943A>C
c.2844A>C (p.Glu948Asp)
c.1749A>C (p.Glu583Asp)
c.1338A>C (p.Glu446Asp)
n.2861A>C
5g.13885972T>ACA3204513DNAH5c.2735A>T (p.Glu912Val)
c.2690A>T (p.Glu897Val)
n.2942A>T
c.2843A>T (p.Glu948Val)
c.1748A>T (p.Glu583Val)
c.1337A>T (p.Glu446Val)
n.2860A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13885972T>CCA359196049DNAH5c.2735A>G (p.Glu912Gly)
c.2690A>G (p.Glu897Gly)
n.2942A>G
c.2843A>G (p.Glu948Gly)
c.1748A>G (p.Glu583Gly)
c.1337A>G (p.Glu446Gly)
n.2860A>G
 gnomAD v4
5g.13885972T>GCA359196051DNAH5c.2735A>C (p.Glu912Ala)
c.2690A>C (p.Glu897Ala)
n.2942A>C
c.2843A>C (p.Glu948Ala)
c.1748A>C (p.Glu583Ala)
c.1337A>C (p.Glu446Ala)
n.2860A>C
5g.13885972T=CA1528483790DNAH5c.2735A= (p.Glu912=)
c.2690A= (p.Glu897=)
n.2942A=
c.2843A= (p.Glu948=)
c.1748A= (p.Glu583=)
c.1337A= (p.Glu446=)
n.2860A=
5g.13885973C>ACA359196053DNAH5c.2734G>T (p.Glu912Ter)
c.2689G>T (p.Glu897Ter)
n.2941G>T
c.2842G>T (p.Glu948Ter)
c.1747G>T (p.Glu583Ter)
c.1336G>T (p.Glu446Ter)
n.2859G>T
 ClinVar dbSNP gnomAD v4
5g.13885973C=CA1528483791DNAH5c.2734G= (p.Glu912=)
c.2689G= (p.Glu897=)
n.2941G=
c.2842G= (p.Glu948=)
c.1747G= (p.Glu583=)
c.1336G= (p.Glu446=)
n.2859G=
5g.13885973C>GCA359196054DNAH5c.2734G>C (p.Glu912Gln)
c.2689G>C (p.Glu897Gln)
n.2941G>C
c.2842G>C (p.Glu948Gln)
c.1747G>C (p.Glu583Gln)
c.1336G>C (p.Glu446Gln)
n.2859G>C
5g.13885973C>TCA359196056DNAH5c.2734G>A (p.Glu912Lys)
c.2689G>A (p.Glu897Lys)
n.2941G>A
c.2842G>A (p.Glu948Lys)
c.1747G>A (p.Glu583Lys)
c.1336G>A (p.Glu446Lys)
n.2859G>A
 COSMIC
5g.13885974A=CA1528483792DNAH5c.2733T= (p.Asn911=)
c.2688T= (p.Asn896=)
n.2940T=
c.2841T= (p.Asn947=)
c.1746T= (p.Asn582=)
c.1335T= (p.Asn445=)
n.2858T=
5g.13885974A>CCA359196060DNAH5c.2733T>G (p.Asn911Lys)
c.2688T>G (p.Asn896Lys)
n.2940T>G
c.2841T>G (p.Asn947Lys)
c.1746T>G (p.Asn582Lys)
c.1335T>G (p.Asn445Lys)
n.2858T>G
5g.13885974A>GCA443273606DNAH5c.2733T>C (p.Asn911=)
c.2688T>C (p.Asn896=)
n.2940T>C
c.2841T>C (p.Asn947=)
c.1746T>C (p.Asn582=)
c.1335T>C (p.Asn445=)
n.2858T>C
5g.13885974A>TCA359196063DNAH5c.2733T>A (p.Asn911Lys)
c.2688T>A (p.Asn896Lys)
n.2940T>A
c.2841T>A (p.Asn947Lys)
c.1746T>A (p.Asn582Lys)
c.1335T>A (p.Asn445Lys)
n.2858T>A
 dbSNP gnomAD v2 gnomAD v4
5g.13885975T>ACA359196065DNAH5c.2732A>T (p.Asn911Ile)
c.2687A>T (p.Asn896Ile)
n.2939A>T
c.2840A>T (p.Asn947Ile)
c.1745A>T (p.Asn582Ile)
c.1334A>T (p.Asn445Ile)
n.2857A>T
5g.13885975T>CCA3204514DNAH5c.2732A>G (p.Asn911Ser)
c.2687A>G (p.Asn896Ser)
n.2939A>G
c.2840A>G (p.Asn947Ser)
c.1745A>G (p.Asn582Ser)
c.1334A>G (p.Asn445Ser)
n.2857A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13885975T>GCA359196066DNAH5c.2732A>C (p.Asn911Thr)
c.2687A>C (p.Asn896Thr)
n.2939A>C
c.2840A>C (p.Asn947Thr)
c.1745A>C (p.Asn582Thr)
c.1334A>C (p.Asn445Thr)
n.2857A>C
5g.13885975T=CA1528483793DNAH5c.2732A= (p.Asn911=)
c.2687A= (p.Asn896=)
n.2939A=
c.2840A= (p.Asn947=)
c.1745A= (p.Asn582=)
c.1334A= (p.Asn445=)
n.2857A=
5g.13885979dupCA2765351031DNAH5c.2732dup (p.Asn911LysfsTer2)
c.2687dup (p.Asn896LysfsTer2)
n.2939dup
c.2840dup (p.Asn947LysfsTer2)
c.1745dup (p.Asn582LysfsTer2)
c.1334dup (p.Asn445LysfsTer2)
n.2857dup
5g.13885976T>ACA359196071DNAH5c.2731A>T (p.Asn911Tyr)
c.2686A>T (p.Asn896Tyr)
n.2938A>T
c.2839A>T (p.Asn947Tyr)
c.1744A>T (p.Asn582Tyr)
c.1333A>T (p.Asn445Tyr)
n.2856A>T
5g.13885976T>CCA359196075DNAH5c.2731A>G (p.Asn911Asp)
c.2686A>G (p.Asn896Asp)
n.2938A>G
c.2839A>G (p.Asn947Asp)
c.1744A>G (p.Asn582Asp)
c.1333A>G (p.Asn445Asp)
n.2856A>G
5g.13885976T>GCA359196073DNAH5c.2731A>C (p.Asn911His)
c.2686A>C (p.Asn896His)
n.2938A>C
c.2839A>C (p.Asn947His)
c.1744A>C (p.Asn582His)
c.1333A>C (p.Asn445His)
n.2856A>C
5g.13885977T>ACA359196076DNAH5c.2730A>T (p.Lys910Asn)
c.2685A>T (p.Lys895Asn)
n.2937A>T
c.2838A>T (p.Lys946Asn)
c.1743A>T (p.Lys581Asn)
c.1332A>T (p.Lys444Asn)
n.2855A>T
5g.13885977T>CCA443273608DNAH5c.2730A>G (p.Lys910=)
c.2685A>G (p.Lys895=)
n.2937A>G
c.2838A>G (p.Lys946=)
c.1743A>G (p.Lys581=)
c.1332A>G (p.Lys444=)
n.2855A>G
5g.13885977T>GCA359196077DNAH5c.2730A>C (p.Lys910Asn)
c.2685A>C (p.Lys895Asn)
n.2937A>C
c.2838A>C (p.Lys946Asn)
c.1743A>C (p.Lys581Asn)
c.1332A>C (p.Lys444Asn)
n.2855A>C
5g.13885978T>ACA359196079DNAH5c.2729A>T (p.Lys910Ile)
c.2684A>T (p.Lys895Ile)
n.2936A>T
c.2837A>T (p.Lys946Ile)
c.1742A>T (p.Lys581Ile)
c.1331A>T (p.Lys444Ile)
n.2854A>T
5g.13885978T>CCA359196082DNAH5c.2729A>G (p.Lys910Arg)
c.2684A>G (p.Lys895Arg)
n.2936A>G
c.2837A>G (p.Lys946Arg)
c.1742A>G (p.Lys581Arg)
c.1331A>G (p.Lys444Arg)
n.2854A>G
5g.13885978T>GCA359196086DNAH5c.2729A>C (p.Lys910Thr)
c.2684A>C (p.Lys895Thr)
n.2936A>C
c.2837A>C (p.Lys946Thr)
c.1742A>C (p.Lys581Thr)
c.1331A>C (p.Lys444Thr)
n.2854A>C
5g.13885979T>ACA359196089DNAH5c.2728A>T (p.Lys910Ter)
c.2683A>T (p.Lys895Ter)
n.2935A>T
c.2836A>T (p.Lys946Ter)
c.1741A>T (p.Lys581Ter)
c.1330A>T (p.Lys444Ter)
n.2853A>T
5g.13885979T>CCA359196091DNAH5c.2728A>G (p.Lys910Glu)
c.2683A>G (p.Lys895Glu)
n.2935A>G
c.2836A>G (p.Lys946Glu)
c.1741A>G (p.Lys581Glu)
c.1330A>G (p.Lys444Glu)
n.2853A>G
5g.13885979T>GCA359196093DNAH5c.2728A>C (p.Lys910Gln)
c.2683A>C (p.Lys895Gln)
n.2935A>C
c.2836A>C (p.Lys946Gln)
c.1741A>C (p.Lys581Gln)
c.1330A>C (p.Lys444Gln)
n.2853A>C
5g.13885980G>ACA443273610DNAH5c.2727C>T (p.Tyr909=)
c.2682C>T (p.Tyr894=)
n.2934C>T
c.2835C>T (p.Tyr945=)
c.1740C>T (p.Tyr580=)
c.1329C>T (p.Tyr443=)
n.2852C>T
5g.13885980G>CCA359196095DNAH5c.2727C>G (p.Tyr909Ter)
c.2682C>G (p.Tyr894Ter)
n.2934C>G
c.2835C>G (p.Tyr945Ter)
c.1740C>G (p.Tyr580Ter)
c.1329C>G (p.Tyr443Ter)
n.2852C>G
5g.13885980G=CA1528483794DNAH5c.2727C= (p.Tyr909=)
c.2682C= (p.Tyr894=)
n.2934C=
c.2835C= (p.Tyr945=)
c.1740C= (p.Tyr580=)
c.1329C= (p.Tyr443=)
n.2852C=
5g.13885980G>TCA359196097DNAH5c.2727C>A (p.Tyr909Ter)
c.2682C>A (p.Tyr894Ter)
n.2934C>A
c.2835C>A (p.Tyr945Ter)
c.1740C>A (p.Tyr580Ter)
c.1329C>A (p.Tyr443Ter)
n.2852C>A
 dbSNP gnomAD v3 gnomAD v4
5g.13885980_13885983delCA2580072161DNAH5c.2724_2727del (p.Asn908LysfsTer17)
c.2679_2682del (p.Asn893LysfsTer17)
n.2931_2934del
c.2832_2835del (p.Asn944LysfsTer17)
c.1737_1740del (p.Asn579LysfsTer17)
c.1326_1329del (p.Asn442LysfsTer17)
n.2849_2852del
 ClinVar
5g.13885981T>ACA359196099DNAH5c.2726A>T (p.Tyr909Phe)
c.2681A>T (p.Tyr894Phe)
n.2933A>T
c.2834A>T (p.Tyr945Phe)
c.1739A>T (p.Tyr580Phe)
c.1328A>T (p.Tyr443Phe)
n.2851A>T
5g.13885981T>CCA359196100DNAH5c.2726A>G (p.Tyr909Cys)
c.2681A>G (p.Tyr894Cys)
n.2933A>G
c.2834A>G (p.Tyr945Cys)
c.1739A>G (p.Tyr580Cys)
c.1328A>G (p.Tyr443Cys)
n.2851A>G
 gnomAD v4
5g.13885981T>GCA359196101DNAH5c.2726A>C (p.Tyr909Ser)
c.2681A>C (p.Tyr894Ser)
n.2933A>C
c.2834A>C (p.Tyr945Ser)
c.1739A>C (p.Tyr580Ser)
c.1328A>C (p.Tyr443Ser)
n.2851A>C
5g.13885982A>CCA359196105DNAH5c.2725T>G (p.Tyr909Asp)
c.2680T>G (p.Tyr894Asp)
n.2932T>G
c.2833T>G (p.Tyr945Asp)
c.1738T>G (p.Tyr580Asp)
c.1327T>G (p.Tyr443Asp)
n.2850T>G
5g.13885982A>GCA359196103DNAH5c.2725T>C (p.Tyr909His)
c.2680T>C (p.Tyr894His)
n.2932T>C
c.2833T>C (p.Tyr945His)
c.1738T>C (p.Tyr580His)
c.1327T>C (p.Tyr443His)
n.2850T>C
5g.13885982A>TCA359196102DNAH5c.2725T>A (p.Tyr909Asn)
c.2680T>A (p.Tyr894Asn)
n.2932T>A
c.2833T>A (p.Tyr945Asn)
c.1738T>A (p.Tyr580Asn)
c.1327T>A (p.Tyr443Asn)
n.2850T>A
5g.13885983A>CCA359196107DNAH5c.2724T>G (p.Asn908Lys)
c.2679T>G (p.Asn893Lys)
n.2931T>G
c.2832T>G (p.Asn944Lys)
c.1737T>G (p.Asn579Lys)
c.1326T>G (p.Asn442Lys)
n.2849T>G
5g.13885983A>GCA443273613DNAH5c.2724T>C (p.Asn908=)
c.2679T>C (p.Asn893=)
n.2931T>C
c.2832T>C (p.Asn944=)
c.1737T>C (p.Asn579=)
c.1326T>C (p.Asn442=)
n.2849T>C
5g.13885983A>TCA359196110DNAH5c.2724T>A (p.Asn908Lys)
c.2679T>A (p.Asn893Lys)
n.2931T>A
c.2832T>A (p.Asn944Lys)
c.1737T>A (p.Asn579Lys)
c.1326T>A (p.Asn442Lys)
n.2849T>A
5g.13885984T>ACA359196112DNAH5c.2723A>T (p.Asn908Ile)
c.2678A>T (p.Asn893Ile)
n.2930A>T
c.2831A>T (p.Asn944Ile)
c.1736A>T (p.Asn579Ile)
c.1325A>T (p.Asn442Ile)
n.2848A>T
5g.13885984T>CCA113933724DNAH5c.2723A>G (p.Asn908Ser)
c.2678A>G (p.Asn893Ser)
n.2930A>G
c.2831A>G (p.Asn944Ser)
c.1736A>G (p.Asn579Ser)
c.1325A>G (p.Asn442Ser)
n.2848A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13885984T>GCA359196116DNAH5c.2723A>C (p.Asn908Thr)
c.2678A>C (p.Asn893Thr)
n.2930A>C
c.2831A>C (p.Asn944Thr)
c.1736A>C (p.Asn579Thr)
c.1325A>C (p.Asn442Thr)
n.2848A>C
5g.13885984T=CA1528483795DNAH5c.2723A= (p.Asn908=)
c.2678A= (p.Asn893=)
n.2930A=
c.2831A= (p.Asn944=)
c.1736A= (p.Asn579=)
c.1325A= (p.Asn442=)
n.2848A=
5g.13885985T>ACA359196119DNAH5c.2722A>T (p.Asn908Tyr)
c.2677A>T (p.Asn893Tyr)
n.2929A>T
c.2830A>T (p.Asn944Tyr)
c.1735A>T (p.Asn579Tyr)
c.1324A>T (p.Asn442Tyr)
n.2847A>T
5g.13885985T>CCA359196122DNAH5c.2722A>G (p.Asn908Asp)
c.2677A>G (p.Asn893Asp)
n.2929A>G
c.2830A>G (p.Asn944Asp)
c.1735A>G (p.Asn579Asp)
c.1324A>G (p.Asn442Asp)
n.2847A>G
 dbSNP gnomAD v2 gnomAD v4
5g.13885985T>GCA3204515DNAH5c.2722A>C (p.Asn908His)
c.2677A>C (p.Asn893His)
n.2929A>C
c.2830A>C (p.Asn944His)
c.1735A>C (p.Asn579His)
c.1324A>C (p.Asn442His)
n.2847A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13885985T=CA1528483796DNAH5c.2722A= (p.Asn908=)
c.2677A= (p.Asn893=)
n.2929A=
c.2830A= (p.Asn944=)
c.1735A= (p.Asn579=)
c.1324A= (p.Asn442=)
n.2847A=
5g.13885986A>CCA443273617DNAH5c.2721T>G (p.Val907=)
c.2676T>G (p.Val892=)
n.2928T>G
c.2829T>G (p.Val943=)
c.1734T>G (p.Val578=)
c.1323T>G (p.Val441=)
n.2846T>G
5g.13885986A>GCA443273618DNAH5c.2721T>C (p.Val907=)
c.2676T>C (p.Val892=)
n.2928T>C
c.2829T>C (p.Val943=)
c.1734T>C (p.Val578=)
c.1323T>C (p.Val441=)
n.2846T>C
5g.13885986A>TCA443273619DNAH5c.2721T>A (p.Val907=)
c.2676T>A (p.Val892=)
n.2928T>A
c.2829T>A (p.Val943=)
c.1734T>A (p.Val578=)
c.1323T>A (p.Val441=)
n.2846T>A
 gnomAD v4
5g.13885986_13885987delCA2580072162DNAH5c.2720_2721del (p.Val907GlufsTer5)
c.2675_2676del (p.Val892GlufsTer5)
n.2927_2928del
c.2828_2829del (p.Val943GlufsTer5)
c.1733_1734del (p.Val578GlufsTer5)
c.1322_1323del (p.Val441GlufsTer5)
n.2845_2846del
 ClinVar
5g.13885987A>CCA359196124DNAH5c.2720T>G (p.Val907Gly)
c.2675T>G (p.Val892Gly)
n.2927T>G
c.2828T>G (p.Val943Gly)
c.1733T>G (p.Val578Gly)
c.1322T>G (p.Val441Gly)
n.2845T>G
5g.13885987A>GCA359196125DNAH5c.2720T>C (p.Val907Ala)
c.2675T>C (p.Val892Ala)
n.2927T>C
c.2828T>C (p.Val943Ala)
c.1733T>C (p.Val578Ala)
c.1322T>C (p.Val441Ala)
n.2845T>C
 gnomAD v4
5g.13885987A>TCA359196126DNAH5c.2720T>A (p.Val907Asp)
c.2675T>A (p.Val892Asp)
n.2927T>A
c.2828T>A (p.Val943Asp)
c.1733T>A (p.Val578Asp)
c.1322T>A (p.Val441Asp)
n.2845T>A
5g.13885988C>ACA359196131DNAH5c.2719G>T (p.Val907Phe)
c.2674G>T (p.Val892Phe)
n.2926G>T
c.2827G>T (p.Val943Phe)
c.1732G>T (p.Val578Phe)
c.1321G>T (p.Val441Phe)
n.2844G>T
 dbSNP gnomAD v3 gnomAD v4
5g.13885988C=CA1528483797DNAH5c.2719G= (p.Val907=)
c.2674G= (p.Val892=)
n.2926G=
c.2827G= (p.Val943=)
c.1732G= (p.Val578=)
c.1321G= (p.Val441=)
n.2844G=
5g.13885988C>GCA359196129DNAH5c.2719G>C (p.Val907Leu)
c.2674G>C (p.Val892Leu)
n.2926G>C
c.2827G>C (p.Val943Leu)
c.1732G>C (p.Val578Leu)
c.1321G>C (p.Val441Leu)
n.2844G>C
5g.13885988C>TCA359196127DNAH5c.2719G>A (p.Val907Ile)
c.2674G>A (p.Val892Ile)
n.2926G>A
c.2827G>A (p.Val943Ile)
c.1732G>A (p.Val578Ile)
c.1321G>A (p.Val441Ile)
n.2844G>A
 ClinVar dbSNP gnomAD v4
5g.13885989A>CCA359196133DNAH5c.2718T>G (p.Ser906Arg)
c.2673T>G (p.Ser891Arg)
n.2925T>G
c.2826T>G (p.Ser942Arg)
c.1731T>G (p.Ser577Arg)
c.1320T>G (p.Ser440Arg)
n.2843T>G
5g.13885989A>GCA443273621DNAH5c.2718T>C (p.Ser906=)
c.2673T>C (p.Ser891=)
n.2925T>C
c.2826T>C (p.Ser942=)
c.1731T>C (p.Ser577=)
c.1320T>C (p.Ser440=)
n.2843T>C
 ClinVar dbSNP
5g.13885989A>TCA359196135DNAH5c.2718T>A (p.Ser906Arg)
c.2673T>A (p.Ser891Arg)
n.2925T>A
c.2826T>A (p.Ser942Arg)
c.1731T>A (p.Ser577Arg)
c.1320T>A (p.Ser440Arg)
n.2843T>A
5g.13885990C>ACA359196137DNAH5c.2717G>T (p.Ser906Ile)
c.2672G>T (p.Ser891Ile)
n.2924G>T
c.2825G>T (p.Ser942Ile)
c.1730G>T (p.Ser577Ile)
c.1319G>T (p.Ser440Ile)
n.2842G>T
5g.13885990C=CA1528483798DNAH5c.2717G= (p.Ser906=)
c.2672G= (p.Ser891=)
n.2924G=
c.2825G= (p.Ser942=)
c.1730G= (p.Ser577=)
c.1319G= (p.Ser440=)
n.2842G=
5g.13885990C>GCA3204516DNAH5c.2717G>C (p.Ser906Thr)
c.2672G>C (p.Ser891Thr)
n.2924G>C
c.2825G>C (p.Ser942Thr)
c.1730G>C (p.Ser577Thr)
c.1319G>C (p.Ser440Thr)
n.2842G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13885990C>TCA359196145DNAH5c.2717G>A (p.Ser906Asn)
c.2672G>A (p.Ser891Asn)
n.2924G>A
c.2825G>A (p.Ser942Asn)
c.1730G>A (p.Ser577Asn)
c.1319G>A (p.Ser440Asn)
n.2842G>A
 gnomAD v4
5g.13885990_13885993dupCA2578270978DNAH5c.2714_2717dup (p.Ser906ArgfsTer2)
c.2669_2672dup (p.Ser891ArgfsTer2)
n.2921_2924dup
c.2822_2825dup (p.Ser942ArgfsTer2)
c.1727_1730dup (p.Ser577ArgfsTer2)
c.1316_1319dup (p.Ser440ArgfsTer2)
n.2839_2842dup
 ClinVar gnomAD v4
5g.13885991T>ACA359196146DNAH5c.2716A>T (p.Ser906Cys)
c.2671A>T (p.Ser891Cys)
n.2923A>T
c.2824A>T (p.Ser942Cys)
c.1729A>T (p.Ser577Cys)
c.1318A>T (p.Ser440Cys)
n.2841A>T
5g.13885991T>CCA359196148DNAH5c.2716A>G (p.Ser906Gly)
c.2671A>G (p.Ser891Gly)
n.2923A>G
c.2824A>G (p.Ser942Gly)
c.1729A>G (p.Ser577Gly)
c.1318A>G (p.Ser440Gly)
n.2841A>G
5g.13885991T>GCA359196150DNAH5c.2716A>C (p.Ser906Arg)
c.2671A>C (p.Ser891Arg)
n.2923A>C
c.2824A>C (p.Ser942Arg)
c.1729A>C (p.Ser577Arg)
c.1318A>C (p.Ser440Arg)
n.2841A>C
5g.13885992A>CCA359196152DNAH5c.2715T>G (p.Asn905Lys)
c.2670T>G (p.Asn890Lys)
n.2922T>G
c.2823T>G (p.Asn941Lys)
c.1728T>G (p.Asn576Lys)
c.1317T>G (p.Asn439Lys)
n.2840T>G
5g.13885992A>GCA443273626DNAH5c.2715T>C (p.Asn905=)
c.2670T>C (p.Asn890=)
n.2922T>C
c.2823T>C (p.Asn941=)
c.1728T>C (p.Asn576=)
c.1317T>C (p.Asn439=)
n.2840T>C
 ClinVar dbSNP
5g.13885992A>TCA359196153DNAH5c.2715T>A (p.Asn905Lys)
c.2670T>A (p.Asn890Lys)
n.2922T>A
c.2823T>A (p.Asn941Lys)
c.1728T>A (p.Asn576Lys)
c.1317T>A (p.Asn439Lys)
n.2840T>A
5g.13885993T>ACA359196155DNAH5c.2714A>T (p.Asn905Ile)
c.2669A>T (p.Asn890Ile)
n.2921A>T
c.2822A>T (p.Asn941Ile)
c.1727A>T (p.Asn576Ile)
c.1316A>T (p.Asn439Ile)
n.2839A>T
5g.13885993T>CCA359196157DNAH5c.2714A>G (p.Asn905Ser)
c.2669A>G (p.Asn890Ser)
n.2921A>G
c.2822A>G (p.Asn941Ser)
c.1727A>G (p.Asn576Ser)
c.1316A>G (p.Asn439Ser)
n.2839A>G
5g.13885993T>GCA359196159DNAH5c.2714A>C (p.Asn905Thr)
c.2669A>C (p.Asn890Thr)
n.2921A>C
c.2822A>C (p.Asn941Thr)
c.1727A>C (p.Asn576Thr)
c.1316A>C (p.Asn439Thr)
n.2839A>C
5g.13885994T>ACA359196162DNAH5c.2713A>T (p.Asn905Tyr)
c.2668A>T (p.Asn890Tyr)
n.2920A>T
c.2821A>T (p.Asn941Tyr)
c.1726A>T (p.Asn576Tyr)
c.1315A>T (p.Asn439Tyr)
n.2838A>T
5g.13885994T>CCA359196165DNAH5c.2713A>G (p.Asn905Asp)
c.2668A>G (p.Asn890Asp)
n.2920A>G
c.2821A>G (p.Asn941Asp)
c.1726A>G (p.Asn576Asp)
c.1315A>G (p.Asn439Asp)
n.2838A>G
5g.13885994T>GCA359196163DNAH5c.2713A>C (p.Asn905His)
c.2668A>C (p.Asn890His)
n.2920A>C
c.2821A>C (p.Asn941His)
c.1726A>C (p.Asn576His)
c.1315A>C (p.Asn439His)
n.2838A>C
5g.13885995C>ACA359196166DNAH5c.2712G>T (p.Glu904Asp)
c.2667G>T (p.Glu889Asp)
n.2919G>T
c.2820G>T (p.Glu940Asp)
c.1725G>T (p.Glu575Asp)
c.1314G>T (p.Glu438Asp)
n.2837G>T
 dbSNP gnomAD v3 gnomAD v4
5g.13885995C=CA1528483799DNAH5c.2712G= (p.Glu904=)
c.2667G= (p.Glu889=)
n.2919G=
c.2820G= (p.Glu940=)
c.1725G= (p.Glu575=)
c.1314G= (p.Glu438=)
n.2837G=
5g.13885995C>GCA359196168DNAH5c.2712G>C (p.Glu904Asp)
c.2667G>C (p.Glu889Asp)
n.2919G>C
c.2820G>C (p.Glu940Asp)
c.1725G>C (p.Glu575Asp)
c.1314G>C (p.Glu438Asp)
n.2837G>C
5g.13885995C>TCA443273631DNAH5c.2712G>A (p.Glu904=)
c.2667G>A (p.Glu889=)
n.2919G>A
c.2820G>A (p.Glu940=)
c.1725G>A (p.Glu575=)
c.1314G>A (p.Glu438=)
n.2837G>A
 dbSNP gnomAD v3 gnomAD v4
5g.13885996T>ACA359196171DNAH5c.2711A>T (p.Glu904Val)
c.2666A>T (p.Glu889Val)
n.2918A>T
c.2819A>T (p.Glu940Val)
c.1724A>T (p.Glu575Val)
c.1313A>T (p.Glu438Val)
n.2836A>T
5g.13885996T>CCA359196174DNAH5c.2711A>G (p.Glu904Gly)
c.2666A>G (p.Glu889Gly)
n.2918A>G
c.2819A>G (p.Glu940Gly)
c.1724A>G (p.Glu575Gly)
c.1313A>G (p.Glu438Gly)
n.2836A>G
 gnomAD v4
5g.13885996T>GCA359196176DNAH5c.2711A>C (p.Glu904Ala)
c.2666A>C (p.Glu889Ala)
n.2918A>C
c.2819A>C (p.Glu940Ala)
c.1724A>C (p.Glu575Ala)
c.1313A>C (p.Glu438Ala)
n.2836A>C
5g.13885997C>ACA359196177DNAH5c.2710G>T (p.Glu904Ter)
c.2665G>T (p.Glu889Ter)
n.2917G>T
c.2818G>T (p.Glu940Ter)
c.1723G>T (p.Glu575Ter)
c.1312G>T (p.Glu438Ter)
n.2835G>T
 ClinVar dbSNP gnomAD v4
5g.13885997C=CA1528483800DNAH5c.2710G= (p.Glu904=)
c.2665G= (p.Glu889=)
n.2917G=
c.2818G= (p.Glu940=)
c.1723G= (p.Glu575=)
c.1312G= (p.Glu438=)
n.2835G=
5g.13885997C>GCA359196179DNAH5c.2710G>C (p.Glu904Gln)
c.2665G>C (p.Glu889Gln)
n.2917G>C
c.2818G>C (p.Glu940Gln)
c.1723G>C (p.Glu575Gln)
c.1312G>C (p.Glu438Gln)
n.2835G>C
5g.13885997C>TCA359196183DNAH5c.2710G>A (p.Glu904Lys)
c.2665G>A (p.Glu889Lys)
n.2917G>A
c.2818G>A (p.Glu940Lys)
c.1723G>A (p.Glu575Lys)
c.1312G>A (p.Glu438Lys)
n.2835G>A
 COSMIC
5g.13885998A>CCA359196185DNAH5c.2709T>G (p.Asn903Lys)
c.2664T>G (p.Asn888Lys)
n.2916T>G
c.2817T>G (p.Asn939Lys)
c.1722T>G (p.Asn574Lys)
c.1311T>G (p.Asn437Lys)
n.2834T>G
 gnomAD v4
5g.13885998A>GCA443273636DNAH5c.2709T>C (p.Asn903=)
c.2664T>C (p.Asn888=)
n.2916T>C
c.2817T>C (p.Asn939=)
c.1722T>C (p.Asn574=)
c.1311T>C (p.Asn437=)
n.2834T>C
 gnomAD v4
5g.13885998A>TCA359196188DNAH5c.2709T>A (p.Asn903Lys)
c.2664T>A (p.Asn888Lys)
n.2916T>A
c.2817T>A (p.Asn939Lys)
c.1722T>A (p.Asn574Lys)
c.1311T>A (p.Asn437Lys)
n.2834T>A
5g.13885999T>ACA359196190DNAH5c.2708A>T (p.Asn903Ile)
c.2663A>T (p.Asn888Ile)
n.2915A>T
c.2816A>T (p.Asn939Ile)
c.1721A>T (p.Asn574Ile)
c.1310A>T (p.Asn437Ile)
n.2833A>T
 dbSNP
5g.13885999T>CCA359196192DNAH5c.2708A>G (p.Asn903Ser)
c.2663A>G (p.Asn888Ser)
n.2915A>G
c.2816A>G (p.Asn939Ser)
c.1721A>G (p.Asn574Ser)
c.1310A>G (p.Asn437Ser)
n.2833A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13885999T>GCA3204517DNAH5c.2708A>C (p.Asn903Thr)
c.2663A>C (p.Asn888Thr)
n.2915A>C
c.2816A>C (p.Asn939Thr)
c.1721A>C (p.Asn574Thr)
c.1310A>C (p.Asn437Thr)
n.2833A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13885999T=CA1528483801DNAH5c.2708A= (p.Asn903=)
c.2663A= (p.Asn888=)
n.2915A=
c.2816A= (p.Asn939=)
c.1721A= (p.Asn574=)
c.1310A= (p.Asn437=)
n.2833A=
5g.13886000T>ACA359196197DNAH5c.2707A>T (p.Asn903Tyr)
c.2662A>T (p.Asn888Tyr)
n.2914A>T
c.2815A>T (p.Asn939Tyr)
c.1720A>T (p.Asn574Tyr)
c.1309A>T (p.Asn437Tyr)
n.2832A>T
5g.13886000T>CCA3204518DNAH5c.2707A>G (p.Asn903Asp)
c.2662A>G (p.Asn888Asp)
n.2914A>G
c.2815A>G (p.Asn939Asp)
c.1720A>G (p.Asn574Asp)
c.1309A>G (p.Asn437Asp)
n.2832A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13886000T>GCA359196198DNAH5c.2707A>C (p.Asn903His)
c.2662A>C (p.Asn888His)
n.2914A>C
c.2815A>C (p.Asn939His)
c.1720A>C (p.Asn574His)
c.1309A>C (p.Asn437His)
n.2832A>C
5g.13886000T=CA1528483802DNAH5c.2707A= (p.Asn903=)
c.2662A= (p.Asn888=)
n.2914A=
c.2815A= (p.Asn939=)
c.1720A= (p.Asn574=)
c.1309A= (p.Asn437=)
n.2832A=
5g.13886001G>ACA3204519DNAH5c.2706C>T (p.Ser902=)
c.2661C>T (p.Ser887=)
n.2913C>T
c.2814C>T (p.Ser938=)
c.1719C>T (p.Ser573=)
c.1308C>T (p.Ser436=)
n.2831C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13886001G>CCA443273640DNAH5c.2706C>G (p.Ser902=)
c.2661C>G (p.Ser887=)
n.2913C>G
c.2814C>G (p.Ser938=)
c.1719C>G (p.Ser573=)
c.1308C>G (p.Ser436=)
n.2831C>G
5g.13886001G=CA1528483803DNAH5c.2706C= (p.Ser902=)
c.2661C= (p.Ser887=)
n.2913C=
c.2814C= (p.Ser938=)
c.1719C= (p.Ser573=)
c.1308C= (p.Ser436=)
n.2831C=
5g.13886001G>TCA443273639DNAH5c.2706C>A (p.Ser902=)
c.2661C>A (p.Ser887=)
n.2913C>A
c.2814C>A (p.Ser938=)
c.1719C>A (p.Ser573=)
c.1308C>A (p.Ser436=)
n.2831C>A
 ClinVar dbSNP gnomAD v4
5g.13886002G>ACA359196200DNAH5c.2705C>T (p.Ser902Phe)
c.2660C>T (p.Ser887Phe)
n.2912C>T
c.2813C>T (p.Ser938Phe)
c.1718C>T (p.Ser573Phe)
c.1307C>T (p.Ser436Phe)
n.2830C>T
5g.13886002G>CCA359196202DNAH5c.2705C>G (p.Ser902Cys)
c.2660C>G (p.Ser887Cys)
n.2912C>G
c.2813C>G (p.Ser938Cys)
c.1718C>G (p.Ser573Cys)
c.1307C>G (p.Ser436Cys)
n.2830C>G
5g.13886002G>TCA359196204DNAH5c.2705C>A (p.Ser902Tyr)
c.2660C>A (p.Ser887Tyr)
n.2912C>A
c.2813C>A (p.Ser938Tyr)
c.1718C>A (p.Ser573Tyr)
c.1307C>A (p.Ser436Tyr)
n.2830C>A
5g.13886003A>CCA359196208DNAH5c.2704T>G (p.Ser902Ala)
c.2659T>G (p.Ser887Ala)
n.2911T>G
c.2812T>G (p.Ser938Ala)
c.1717T>G (p.Ser573Ala)
c.1306T>G (p.Ser436Ala)
n.2829T>G
5g.13886003A>GCA359196216DNAH5c.2704T>C (p.Ser902Pro)
c.2659T>C (p.Ser887Pro)
n.2911T>C
c.2812T>C (p.Ser938Pro)
c.1717T>C (p.Ser573Pro)
c.1306T>C (p.Ser436Pro)
n.2829T>C
5g.13886003A>TCA359196210DNAH5c.2704T>A (p.Ser902Thr)
c.2659T>A (p.Ser887Thr)
n.2911T>A
c.2812T>A (p.Ser938Thr)
c.1717T>A (p.Ser573Thr)
c.1306T>A (p.Ser436Thr)
n.2829T>A
5g.13886004T>ACA443273643DNAH5c.2703A>T (p.Ile901=)
c.2658A>T (p.Ile886=)
n.2910A>T
c.2811A>T (p.Ile937=)
c.1716A>T (p.Ile572=)
c.1305A>T (p.Ile435=)
n.2828A>T
 ClinVar dbSNP
5g.13886004T>CCA359196219DNAH5c.2703A>G (p.Ile901Met)
c.2658A>G (p.Ile886Met)
n.2910A>G
c.2811A>G (p.Ile937Met)
c.1716A>G (p.Ile572Met)
c.1305A>G (p.Ile435Met)
n.2828A>G
5g.13886004T>GCA443273646DNAH5c.2703A>C (p.Ile901=)
c.2658A>C (p.Ile886=)
n.2910A>C
c.2811A>C (p.Ile937=)
c.1716A>C (p.Ile572=)
c.1305A>C (p.Ile435=)
n.2828A>C
5g.13886004T=CA1528483804DNAH5c.2703A= (p.Ile901=)
c.2658A= (p.Ile886=)
n.2910A=
c.2811A= (p.Ile937=)
c.1716A= (p.Ile572=)
c.1305A= (p.Ile435=)
n.2828A=
5g.13886005A=CA1528483805DNAH5c.2702T= (p.Ile901=)
c.2657T= (p.Ile886=)
n.2909T=
c.2810T= (p.Ile937=)
c.1715T= (p.Ile572=)
c.1304T= (p.Ile435=)
n.2827T=
5g.13886005A>CCA359196222DNAH5c.2702T>G (p.Ile901Arg)
c.2657T>G (p.Ile886Arg)
n.2909T>G
c.2810T>G (p.Ile937Arg)
c.1715T>G (p.Ile572Arg)
c.1304T>G (p.Ile435Arg)
n.2827T>G
5g.13886005A>GCA359196228DNAH5c.2702T>C (p.Ile901Thr)
c.2657T>C (p.Ile886Thr)
n.2909T>C
c.2810T>C (p.Ile937Thr)
c.1715T>C (p.Ile572Thr)
c.1304T>C (p.Ile435Thr)
n.2827T>C
5g.13886005A>TCA359196230DNAH5c.2702T>A (p.Ile901Lys)
c.2657T>A (p.Ile886Lys)
n.2909T>A
c.2810T>A (p.Ile937Lys)
c.1715T>A (p.Ile572Lys)
c.1304T>A (p.Ile435Lys)
n.2827T>A
5g.13886006T>ACA359196239DNAH5c.2701A>T (p.Ile901Leu)
c.2656A>T (p.Ile886Leu)
n.2908A>T
c.2809A>T (p.Ile937Leu)
c.1714A>T (p.Ile572Leu)
c.1303A>T (p.Ile435Leu)
n.2826A>T
5g.13886006T>CCA359196233DNAH5c.2701A>G (p.Ile901Val)
c.2656A>G (p.Ile886Val)
n.2908A>G
c.2809A>G (p.Ile937Val)
c.1714A>G (p.Ile572Val)
c.1303A>G (p.Ile435Val)
n.2826A>G
5g.13886006T>GCA359196236DNAH5c.2701A>C (p.Ile901Leu)
c.2656A>C (p.Ile886Leu)
n.2908A>C
c.2809A>C (p.Ile937Leu)
c.1714A>C (p.Ile572Leu)
c.1303A>C (p.Ile435Leu)
n.2826A>C
5g.13886011dupCA917418468DNAH5c.2701dup (p.Ile901AsnfsTer4)
c.2656dup (p.Ile886AsnfsTer4)
n.2908dup
c.2809dup (p.Ile937AsnfsTer4)
c.1714dup (p.Ile572AsnfsTer4)
c.1303dup (p.Ile435AsnfsTer4)
n.2826dup
 dbSNP
5g.13886007T>ACA359196246DNAH5c.2700A>T (p.Lys900Asn)
c.2655A>T (p.Lys885Asn)
n.2907A>T
c.2808A>T (p.Lys936Asn)
c.1713A>T (p.Lys571Asn)
c.1302A>T (p.Lys434Asn)
n.2825A>T
5g.13886007T>CCA443273648DNAH5c.2700A>G (p.Lys900=)
c.2655A>G (p.Lys885=)
n.2907A>G
c.2808A>G (p.Lys936=)
c.1713A>G (p.Lys571=)
c.1302A>G (p.Lys434=)
n.2825A>G
 gnomAD v4
5g.13886007T>GCA3204520DNAH5c.2700A>C (p.Lys900Asn)
c.2655A>C (p.Lys885Asn)
n.2907A>C
c.2808A>C (p.Lys936Asn)
c.1713A>C (p.Lys571Asn)
c.1302A>C (p.Lys434Asn)
n.2825A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13886007T=CA1528483806DNAH5c.2700A= (p.Lys900=)
c.2655A= (p.Lys885=)
n.2907A=
c.2808A= (p.Lys936=)
c.1713A= (p.Lys571=)
c.1302A= (p.Lys434=)
n.2825A=
5g.13886008T>ACA359196248DNAH5c.2699A>T (p.Lys900Ile)
c.2654A>T (p.Lys885Ile)
n.2906A>T
c.2807A>T (p.Lys936Ile)
c.1712A>T (p.Lys571Ile)
c.1301A>T (p.Lys434Ile)
n.2824A>T
 COSMIC
5g.13886008T>CCA359196251DNAH5c.2699A>G (p.Lys900Arg)
c.2654A>G (p.Lys885Arg)
n.2906A>G
c.2807A>G (p.Lys936Arg)
c.1712A>G (p.Lys571Arg)
c.1301A>G (p.Lys434Arg)
n.2824A>G
5g.13886008T>GCA359196252DNAH5c.2699A>C (p.Lys900Thr)
c.2654A>C (p.Lys885Thr)
n.2906A>C
c.2807A>C (p.Lys936Thr)
c.1712A>C (p.Lys571Thr)
c.1301A>C (p.Lys434Thr)
n.2824A>C
5g.13886009T>ACA359196255DNAH5c.2698A>T (p.Lys900Ter)
c.2653A>T (p.Lys885Ter)
n.2905A>T
c.2806A>T (p.Lys936Ter)
c.1711A>T (p.Lys571Ter)
c.1300A>T (p.Lys434Ter)
n.2823A>T
 COSMIC
5g.13886009T>CCA359196257DNAH5c.2698A>G (p.Lys900Glu)
c.2653A>G (p.Lys885Glu)
n.2905A>G
c.2806A>G (p.Lys936Glu)
c.1711A>G (p.Lys571Glu)
c.1300A>G (p.Lys434Glu)
n.2823A>G
5g.13886009T>GCA359196259DNAH5c.2698A>C (p.Lys900Gln)
c.2653A>C (p.Lys885Gln)
n.2905A>C
c.2806A>C (p.Lys936Gln)
c.1711A>C (p.Lys571Gln)
c.1300A>C (p.Lys434Gln)
n.2823A>C
5g.13886010T>ACA359196260DNAH5c.2697A>T (p.Glu899Asp)
c.2652A>T (p.Glu884Asp)
n.2904A>T
c.2805A>T (p.Glu935Asp)
c.1710A>T (p.Glu570Asp)
c.1299A>T (p.Glu433Asp)
n.2822A>T
5g.13886010T>CCA443273654DNAH5c.2697A>G (p.Glu899=)
c.2652A>G (p.Glu884=)
n.2904A>G
c.2805A>G (p.Glu935=)
c.1710A>G (p.Glu570=)
c.1299A>G (p.Glu433=)
n.2822A>G
5g.13886010T>GCA359196261DNAH5c.2697A>C (p.Glu899Asp)
c.2652A>C (p.Glu884Asp)
n.2904A>C
c.2805A>C (p.Glu935Asp)
c.1710A>C (p.Glu570Asp)
c.1299A>C (p.Glu433Asp)
n.2822A>C
5g.13886011T>ACA359196262DNAH5c.2696A>T (p.Glu899Val)
c.2651A>T (p.Glu884Val)
n.2903A>T
c.2804A>T (p.Glu935Val)
c.1709A>T (p.Glu570Val)
c.1298A>T (p.Glu433Val)
n.2821A>T
5g.13886011T>CCA359196264DNAH5c.2696A>G (p.Glu899Gly)
c.2651A>G (p.Glu884Gly)
n.2903A>G
c.2804A>G (p.Glu935Gly)
c.1709A>G (p.Glu570Gly)
c.1298A>G (p.Glu433Gly)
n.2821A>G
5g.13886011T>GCA359196265DNAH5c.2696A>C (p.Glu899Ala)
c.2651A>C (p.Glu884Ala)
n.2903A>C
c.2804A>C (p.Glu935Ala)
c.1709A>C (p.Glu570Ala)
c.1298A>C (p.Glu433Ala)
n.2821A>C
 gnomAD v4
5g.13886012C>ACA359196267DNAH5c.2695G>T (p.Glu899Ter)
c.2650G>T (p.Glu884Ter)
n.2902G>T
c.2803G>T (p.Glu935Ter)
c.1708G>T (p.Glu570Ter)
c.1297G>T (p.Glu433Ter)
n.2820G>T
5g.13886012C>GCA359196272DNAH5c.2695G>C (p.Glu899Gln)
c.2650G>C (p.Glu884Gln)
n.2902G>C
c.2803G>C (p.Glu935Gln)
c.1708G>C (p.Glu570Gln)
c.1297G>C (p.Glu433Gln)
n.2820G>C
5g.13886012C>TCA359196270DNAH5c.2695G>A (p.Glu899Lys)
c.2650G>A (p.Glu884Lys)
n.2902G>A
c.2803G>A (p.Glu935Lys)
c.1708G>A (p.Glu570Lys)
c.1297G>A (p.Glu433Lys)
n.2820G>A
 gnomAD v3 gnomAD v4
5g.13886013A=CA1528483807DNAH5c.2694T= (p.Ser898=)
c.2649T= (p.Ser883=)
n.2901T=
c.2802T= (p.Ser934=)
c.1707T= (p.Ser569=)
c.1296T= (p.Ser432=)
n.2819T=
5g.13886013A>CCA359196275DNAH5c.2694T>G (p.Ser898Arg)
c.2649T>G (p.Ser883Arg)
n.2901T>G
c.2802T>G (p.Ser934Arg)
c.1707T>G (p.Ser569Arg)
c.1296T>G (p.Ser432Arg)
n.2819T>G
5g.13886013A>GCA443273658DNAH5c.2694T>C (p.Ser898=)
c.2649T>C (p.Ser883=)
n.2901T>C
c.2802T>C (p.Ser934=)
c.1707T>C (p.Ser569=)
c.1296T>C (p.Ser432=)
n.2819T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13886013A>TCA359196276DNAH5c.2694T>A (p.Ser898Arg)
c.2649T>A (p.Ser883Arg)
n.2901T>A
c.2802T>A (p.Ser934Arg)
c.1707T>A (p.Ser569Arg)
c.1296T>A (p.Ser432Arg)
n.2819T>A
 gnomAD v3 gnomAD v4
5g.13886014C>ACA359196279DNAH5c.2693G>T (p.Ser898Ile)
c.2648G>T (p.Ser883Ile)
n.2900G>T
c.2801G>T (p.Ser934Ile)
c.1706G>T (p.Ser569Ile)
c.1295G>T (p.Ser432Ile)
n.2818G>T
5g.13886014C=CA1528483808DNAH5c.2693G= (p.Ser898=)
c.2648G= (p.Ser883=)
n.2900G=
c.2801G= (p.Ser934=)
c.1706G= (p.Ser569=)
c.1295G= (p.Ser432=)
n.2818G=
5g.13886014C>GCA359196282DNAH5c.2693G>C (p.Ser898Thr)
c.2648G>C (p.Ser883Thr)
n.2900G>C
c.2801G>C (p.Ser934Thr)
c.1706G>C (p.Ser569Thr)
c.1295G>C (p.Ser432Thr)
n.2818G>C
 COSMIC
5g.13886014C>TCA359196283DNAH5c.2693G>A (p.Ser898Asn)
c.2648G>A (p.Ser883Asn)
n.2900G>A
c.2801G>A (p.Ser934Asn)
c.1706G>A (p.Ser569Asn)
c.1295G>A (p.Ser432Asn)
n.2818G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13886015T>ACA359196290DNAH5c.2692A>T (p.Ser898Cys)
c.2647A>T (p.Ser883Cys)
n.2899A>T
c.2800A>T (p.Ser934Cys)
c.1705A>T (p.Ser569Cys)
c.1294A>T (p.Ser432Cys)
n.2817A>T
5g.13886015T>CCA359196289DNAH5c.2692A>G (p.Ser898Gly)
c.2647A>G (p.Ser883Gly)
n.2899A>G
c.2800A>G (p.Ser934Gly)
c.1705A>G (p.Ser569Gly)
c.1294A>G (p.Ser432Gly)
n.2817A>G
 dbSNP gnomAD v2 gnomAD v4
5g.13886015T>GCA359196286DNAH5c.2692A>C (p.Ser898Arg)
c.2647A>C (p.Ser883Arg)
n.2899A>C
c.2800A>C (p.Ser934Arg)
c.1705A>C (p.Ser569Arg)
c.1294A>C (p.Ser432Arg)
n.2817A>C
5g.13886015T=CA1528483809DNAH5c.2692A= (p.Ser898=)
c.2647A= (p.Ser883=)
n.2899A=
c.2800A= (p.Ser934=)
c.1705A= (p.Ser569=)
c.1294A= (p.Ser432=)
n.2817A=
5g.13886016T>ACA359196293DNAH5c.2691A>T (p.Glu897Asp)
c.2646A>T (p.Glu882Asp)
n.2898A>T
c.2799A>T (p.Glu933Asp)
c.1704A>T (p.Glu568Asp)
c.1293A>T (p.Glu431Asp)
n.2816A>T
5g.13886016T>CCA3204521DNAH5c.2691A>G (p.Glu897=)
c.2646A>G (p.Glu882=)
n.2898A>G
c.2799A>G (p.Glu933=)
c.1704A>G (p.Glu568=)
c.1293A>G (p.Glu431=)
n.2816A>G
 dbSNP ExAC gnomAD v2
5g.13886016T>GCA3204522DNAH5c.2691A>C (p.Glu897Asp)
c.2646A>C (p.Glu882Asp)
n.2898A>C
c.2799A>C (p.Glu933Asp)
c.1704A>C (p.Glu568Asp)
c.1293A>C (p.Glu431Asp)
n.2816A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13886016T=CA1528483810DNAH5c.2691A= (p.Glu897=)
c.2646A= (p.Glu882=)
n.2898A=
c.2799A= (p.Glu933=)
c.1704A= (p.Glu568=)
c.1293A= (p.Glu431=)
n.2816A=
5g.13886017T>ACA359196298DNAH5c.2690A>T (p.Glu897Val)
c.2645A>T (p.Glu882Val)
n.2897A>T
c.2798A>T (p.Glu933Val)
c.1703A>T (p.Glu568Val)
c.1292A>T (p.Glu431Val)
n.2815A>T
5g.13886017T>CCA359196300DNAH5c.2690A>G (p.Glu897Gly)
c.2645A>G (p.Glu882Gly)
n.2897A>G
c.2798A>G (p.Glu933Gly)
c.1703A>G (p.Glu568Gly)
c.1292A>G (p.Glu431Gly)
n.2815A>G
 gnomAD v4
5g.13886017T>GCA359196302DNAH5c.2690A>C (p.Glu897Ala)
c.2645A>C (p.Glu882Ala)
n.2897A>C
c.2798A>C (p.Glu933Ala)
c.1703A>C (p.Glu568Ala)
c.1292A>C (p.Glu431Ala)
n.2815A>C
5g.13886018C>ACA359196304DNAH5c.2689G>T (p.Glu897Ter)
c.2644G>T (p.Glu882Ter)
n.2896G>T
c.2797G>T (p.Glu933Ter)
c.1702G>T (p.Glu568Ter)
c.1291G>T (p.Glu431Ter)
n.2814G>T
5g.13886018C>GCA359196309DNAH5c.2689G>C (p.Glu897Gln)
c.2644G>C (p.Glu882Gln)
n.2896G>C
c.2797G>C (p.Glu933Gln)
c.1702G>C (p.Glu568Gln)
c.1291G>C (p.Glu431Gln)
n.2814G>C
5g.13886018C>TCA359196307DNAH5c.2689G>A (p.Glu897Lys)
c.2644G>A (p.Glu882Lys)
n.2896G>A
c.2797G>A (p.Glu933Lys)
c.1702G>A (p.Glu568Lys)
c.1291G>A (p.Glu431Lys)
n.2814G>A
 gnomAD v3 gnomAD v4
5g.13886018_13886021dupCA2578270979DNAH5c.2686_2689dup (p.Glu897GlyfsTer4)
c.2641_2644dup (p.Glu882GlyfsTer4)
n.2893_2896dup
c.2794_2797dup (p.Glu933GlyfsTer4)
c.1699_1702dup (p.Glu568GlyfsTer4)
c.1288_1291dup (p.Glu431GlyfsTer4)
n.2811_2814dup
5g.13886019T>ACA359196312DNAH5c.2688A>T (p.Glu896Asp)
c.2643A>T (p.Glu881Asp)
n.2895A>T
c.2796A>T (p.Glu932Asp)
c.1701A>T (p.Glu567Asp)
c.1290A>T (p.Glu430Asp)
n.2813A>T
5g.13886019T>CCA443273665DNAH5c.2688A>G (p.Glu896=)
c.2643A>G (p.Glu881=)
n.2895A>G
c.2796A>G (p.Glu932=)
c.1701A>G (p.Glu567=)
c.1290A>G (p.Glu430=)
n.2813A>G
5g.13886019T>GCA359196315DNAH5c.2688A>C (p.Glu896Asp)
c.2643A>C (p.Glu881Asp)
n.2895A>C
c.2796A>C (p.Glu932Asp)
c.1701A>C (p.Glu567Asp)
c.1290A>C (p.Glu430Asp)
n.2813A>C
5g.13886020T>ACA359196318DNAH5c.2687A>T (p.Glu896Val)
c.2642A>T (p.Glu881Val)
n.2894A>T
c.2795A>T (p.Glu932Val)
c.1700A>T (p.Glu567Val)
c.1289A>T (p.Glu430Val)
n.2812A>T
5g.13886020T>CCA359196320DNAH5c.2687A>G (p.Glu896Gly)
c.2642A>G (p.Glu881Gly)
n.2894A>G
c.2795A>G (p.Glu932Gly)
c.1700A>G (p.Glu567Gly)
c.1289A>G (p.Glu430Gly)
n.2812A>G
5g.13886020T>GCA359196321DNAH5c.2687A>C (p.Glu896Ala)
c.2642A>C (p.Glu881Ala)
n.2894A>C
c.2795A>C (p.Glu932Ala)
c.1700A>C (p.Glu567Ala)
c.1289A>C (p.Glu430Ala)
n.2812A>C
5g.13886021C>ACA359196324DNAH5c.2686G>T (p.Glu896Ter)
c.2641G>T (p.Glu881Ter)
n.2893G>T
c.2794G>T (p.Glu932Ter)
c.1699G>T (p.Glu567Ter)
c.1288G>T (p.Glu430Ter)
n.2811G>T
5g.13886021C=CA1528483811DNAH5c.2686G= (p.Glu896=)
c.2641G= (p.Glu881=)
n.2893G=
c.2794G= (p.Glu932=)
c.1699G= (p.Glu567=)
c.1288G= (p.Glu430=)
n.2811G=
5g.13886021C>GCA359196326DNAH5c.2686G>C (p.Glu896Gln)
c.2641G>C (p.Glu881Gln)
n.2893G>C
c.2794G>C (p.Glu932Gln)
c.1699G>C (p.Glu567Gln)
c.1288G>C (p.Glu430Gln)
n.2811G>C
 gnomAD v4
5g.13886021C>TCA3204523DNAH5c.2686G>A (p.Glu896Lys)
c.2641G>A (p.Glu881Lys)
n.2893G>A
c.2794G>A (p.Glu932Lys)
c.1699G>A (p.Glu567Lys)
c.1288G>A (p.Glu430Lys)
n.2811G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13886022T>ACA359196329DNAH5c.2685A>T (p.Glu895Asp)
c.2640A>T (p.Glu880Asp)
n.2892A>T
c.2793A>T (p.Glu931Asp)
c.1698A>T (p.Glu566Asp)
c.1287A>T (p.Glu429Asp)
n.2810A>T
5g.13886022T>CCA443273670DNAH5c.2685A>G (p.Glu895=)
c.2640A>G (p.Glu880=)
n.2892A>G
c.2793A>G (p.Glu931=)
c.1698A>G (p.Glu566=)
c.1287A>G (p.Glu429=)
n.2810A>G
 dbSNP
5g.13886022T>GCA359196331DNAH5c.2685A>C (p.Glu895Asp)
c.2640A>C (p.Glu880Asp)
n.2892A>C
c.2793A>C (p.Glu931Asp)
c.1698A>C (p.Glu566Asp)
c.1287A>C (p.Glu429Asp)
n.2810A>C
5g.13886022T=CA1528483812DNAH5c.2685A= (p.Glu895=)
c.2640A= (p.Glu880=)
n.2892A=
c.2793A= (p.Glu931=)
c.1698A= (p.Glu566=)
c.1287A= (p.Glu429=)
n.2810A=
5g.13886023T>ACA359196334DNAH5c.2684A>T (p.Glu895Val)
c.2639A>T (p.Glu880Val)
n.2891A>T
c.2792A>T (p.Glu931Val)
c.1697A>T (p.Glu566Val)
c.1286A>T (p.Glu429Val)
n.2809A>T
5g.13886023T>CCA359196339DNAH5c.2684A>G (p.Glu895Gly)
c.2639A>G (p.Glu880Gly)
n.2891A>G
c.2792A>G (p.Glu931Gly)
c.1697A>G (p.Glu566Gly)
c.1286A>G (p.Glu429Gly)
n.2809A>G
5g.13886023T>GCA359196337DNAH5c.2684A>C (p.Glu895Ala)
c.2639A>C (p.Glu880Ala)
n.2891A>C
c.2792A>C (p.Glu931Ala)
c.1697A>C (p.Glu566Ala)
c.1286A>C (p.Glu429Ala)
n.2809A>C
 gnomAD v4
5g.13886024C>ACA359196343DNAH5c.2683G>T (p.Glu895Ter)
c.2638G>T (p.Glu880Ter)
n.2890G>T
c.2791G>T (p.Glu931Ter)
c.1696G>T (p.Glu566Ter)
c.1285G>T (p.Glu429Ter)
n.2808G>T
5g.13886024C=CA1528483813DNAH5c.2683G= (p.Glu895=)
c.2638G= (p.Glu880=)
n.2890G=
c.2791G= (p.Glu931=)
c.1696G= (p.Glu566=)
c.1285G= (p.Glu429=)
n.2808G=
5g.13886024C>GCA359196346DNAH5c.2683G>C (p.Glu895Gln)
c.2638G>C (p.Glu880Gln)
n.2890G>C
c.2791G>C (p.Glu931Gln)
c.1696G>C (p.Glu566Gln)
c.1285G>C (p.Glu429Gln)
n.2808G>C
5g.13886024C>TCA175805DNAH5c.2683G>A (p.Glu895Lys)
c.2638G>A (p.Glu880Lys)
n.2890G>A
c.2791G>A (p.Glu931Lys)
c.1696G>A (p.Glu566Lys)
c.1285G>A (p.Glu429Lys)
n.2808G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13886025A>CCA443273672DNAH5c.2682T>G (p.Ser894=)
c.2637T>G (p.Ser879=)
n.2889T>G
c.2790T>G (p.Ser930=)
c.1695T>G (p.Ser565=)
c.1284T>G (p.Ser428=)
n.2807T>G
5g.13886025A>GCA443273674DNAH5c.2682T>C (p.Ser894=)
c.2637T>C (p.Ser879=)
n.2889T>C
c.2790T>C (p.Ser930=)
c.1695T>C (p.Ser565=)
c.1284T>C (p.Ser428=)
n.2807T>C
5g.13886025A>TCA443273675DNAH5c.2682T>A (p.Ser894=)
c.2637T>A (p.Ser879=)
n.2889T>A
c.2790T>A (p.Ser930=)
c.1695T>A (p.Ser565=)
c.1284T>A (p.Ser428=)
n.2807T>A
5g.13886026G>ACA359196349DNAH5c.2681C>T (p.Ser894Phe)
c.2636C>T (p.Ser879Phe)
n.2888C>T
c.2789C>T (p.Ser930Phe)
c.1694C>T (p.Ser565Phe)
c.1283C>T (p.Ser428Phe)
n.2806C>T
5g.13886026G>CCA359196353DNAH5c.2681C>G (p.Ser894Cys)
c.2636C>G (p.Ser879Cys)
n.2888C>G
c.2789C>G (p.Ser930Cys)
c.1694C>G (p.Ser565Cys)
c.1283C>G (p.Ser428Cys)
n.2806C>G
 gnomAD v4
5g.13886026G>TCA359196352DNAH5c.2681C>A (p.Ser894Tyr)
c.2636C>A (p.Ser879Tyr)
n.2888C>A
c.2789C>A (p.Ser930Tyr)
c.1694C>A (p.Ser565Tyr)
c.1283C>A (p.Ser428Tyr)
n.2806C>A
5g.13886027A>CCA359196357DNAH5c.2680T>G (p.Ser894Ala)
c.2635T>G (p.Ser879Ala)
n.2887T>G
c.2788T>G (p.Ser930Ala)
c.1693T>G (p.Ser565Ala)
c.1282T>G (p.Ser428Ala)
n.2805T>G
5g.13886027A>GCA359196360DNAH5c.2680T>C (p.Ser894Pro)
c.2635T>C (p.Ser879Pro)
n.2887T>C
c.2788T>C (p.Ser930Pro)
c.1693T>C (p.Ser565Pro)
c.1282T>C (p.Ser428Pro)
n.2805T>C
5g.13886027A>TCA359196358DNAH5c.2680T>A (p.Ser894Thr)
c.2635T>A (p.Ser879Thr)
n.2887T>A
c.2788T>A (p.Ser930Thr)
c.1693T>A (p.Ser565Thr)
c.1282T>A (p.Ser428Thr)
n.2805T>A
5g.13886028T>ACA359196362DNAH5c.2679A>T (p.Leu893Phe)
c.2634A>T (p.Leu878Phe)
n.2886A>T
c.2787A>T (p.Leu929Phe)
c.1692A>T (p.Leu564Phe)
c.1281A>T (p.Leu427Phe)
n.2804A>T
5g.13886028T>CCA113933797DNAH5c.2679A>G (p.Leu893=)
c.2634A>G (p.Leu878=)
n.2886A>G
c.2787A>G (p.Leu929=)
c.1692A>G (p.Leu564=)
c.1281A>G (p.Leu427=)
n.2804A>G
 dbSNP
5g.13886028T>GCA359196364DNAH5c.2679A>C (p.Leu893Phe)
c.2634A>C (p.Leu878Phe)
n.2886A>C
c.2787A>C (p.Leu929Phe)
c.1692A>C (p.Leu564Phe)
c.1281A>C (p.Leu427Phe)
n.2804A>C
5g.13886028T=CA1528483814DNAH5c.2679A= (p.Leu893=)
c.2634A= (p.Leu878=)
n.2886A=
c.2787A= (p.Leu929=)
c.1692A= (p.Leu564=)
c.1281A= (p.Leu427=)
n.2804A=
5g.13886029A>CCA359196368DNAH5c.2678T>G (p.Leu893Ter)
c.2633T>G (p.Leu878Ter)
n.2885T>G
c.2786T>G (p.Leu929Ter)
c.1691T>G (p.Leu564Ter)
c.1280T>G (p.Leu427Ter)
n.2803T>G
5g.13886029A>GCA359196370DNAH5c.2678T>C (p.Leu893Ser)
c.2633T>C (p.Leu878Ser)
n.2885T>C
c.2786T>C (p.Leu929Ser)
c.1691T>C (p.Leu564Ser)
c.1280T>C (p.Leu427Ser)
n.2803T>C
5g.13886029A>TCA359196372DNAH5c.2678T>A (p.Leu893Ter)
c.2633T>A (p.Leu878Ter)
n.2885T>A
c.2786T>A (p.Leu929Ter)
c.1691T>A (p.Leu564Ter)
c.1280T>A (p.Leu427Ter)
n.2803T>A
5g.13886030A=CA1528483815DNAH5c.2677T= (p.Leu893=)
c.2632T= (p.Leu878=)
n.2884T=
c.2785T= (p.Leu929=)
c.1690T= (p.Leu564=)
c.1279T= (p.Leu427=)
n.2802T=
5g.13886030A>CCA359196373DNAH5c.2677T>G (p.Leu893Val)
c.2632T>G (p.Leu878Val)
n.2884T>G
c.2785T>G (p.Leu929Val)
c.1690T>G (p.Leu564Val)
c.1279T>G (p.Leu427Val)
n.2802T>G
5g.13886030A>GCA443273680DNAH5c.2677T>C (p.Leu893=)
c.2632T>C (p.Leu878=)
n.2884T>C
c.2785T>C (p.Leu929=)
c.1690T>C (p.Leu564=)
c.1279T>C (p.Leu427=)
n.2802T>C
 ClinVar dbSNP gnomAD v4
5g.13886030A>TCA359196374DNAH5c.2677T>A (p.Leu893Ile)
c.2632T>A (p.Leu878Ile)
n.2884T>A
c.2785T>A (p.Leu929Ile)
c.1690T>A (p.Leu564Ile)
c.1279T>A (p.Leu427Ile)
n.2802T>A
5g.13886031A>CCA443273685DNAH5c.2676T>G (p.Val892=)
c.2631T>G (p.Val877=)
n.2883T>G
c.2784T>G (p.Val928=)
c.1689T>G (p.Val563=)
c.1278T>G (p.Val426=)
n.2801T>G
5g.13886031A>GCA443273683DNAH5c.2676T>C (p.Val892=)
c.2631T>C (p.Val877=)
n.2883T>C
c.2784T>C (p.Val928=)
c.1689T>C (p.Val563=)
c.1278T>C (p.Val426=)
n.2801T>C
5g.13886031A>TCA443273684DNAH5c.2676T>A (p.Val892=)
c.2631T>A (p.Val877=)
n.2883T>A
c.2784T>A (p.Val928=)
c.1689T>A (p.Val563=)
c.1278T>A (p.Val426=)
n.2801T>A
5g.13886032A>CCA359196378DNAH5c.2675T>G (p.Val892Gly)
c.2630T>G (p.Val877Gly)
n.2882T>G
c.2783T>G (p.Val928Gly)
c.1688T>G (p.Val563Gly)
c.1277T>G (p.Val426Gly)
n.2800T>G
5g.13886032A>GCA359196375DNAH5c.2675T>C (p.Val892Ala)
c.2630T>C (p.Val877Ala)
n.2882T>C
c.2783T>C (p.Val928Ala)
c.1688T>C (p.Val563Ala)
c.1277T>C (p.Val426Ala)
n.2800T>C
 COSMIC
5g.13886032A>TCA359196376DNAH5c.2675T>A (p.Val892Asp)
c.2630T>A (p.Val877Asp)
n.2882T>A
c.2783T>A (p.Val928Asp)
c.1688T>A (p.Val563Asp)
c.1277T>A (p.Val426Asp)
n.2800T>A
5g.13886032_13886033delinsACCA1528483816DNAH5c.2674_2675delinsGT (p.Val892=)
c.2629_2630delinsGT (p.Val877=)
n.2881_2882delinsGT
c.2782_2783delinsGT (p.Val928=)
c.1687_1688delinsGT (p.Val563=)
c.1276_1277delinsGT (p.Val426=)
n.2799_2800delinsGT
5g.13886033delCA1073400302DNAH5c.2674del (p.Val892PhefsTer?)
c.2629del (p.Val877PhefsTer?)
n.2881del
c.2782del (p.Val928PhefsTer?)
c.1687del (p.Val563PhefsTer?)
c.1276del (p.Val426PhefsTer?)
n.2799del
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.13886033C>ACA359196381DNAH5c.2674G>T (p.Val892Phe)
c.2629G>T (p.Val877Phe)
n.2881G>T
c.2782G>T (p.Val928Phe)
c.1687G>T (p.Val563Phe)
c.1276G>T (p.Val426Phe)
n.2799G>T
 gnomAD v4
5g.13886033C>GCA359196382DNAH5c.2674G>C (p.Val892Leu)
c.2629G>C (p.Val877Leu)
n.2881G>C
c.2782G>C (p.Val928Leu)
c.1687G>C (p.Val563Leu)
c.1276G>C (p.Val426Leu)
n.2799G>C
 gnomAD v4
5g.13886033C>TCA359196385DNAH5c.2674G>A (p.Val892Ile)
c.2629G>A (p.Val877Ile)
n.2881G>A
c.2782G>A (p.Val928Ile)
c.1687G>A (p.Val563Ile)
c.1276G>A (p.Val426Ile)
n.2799G>A
5g.13886034T>ACA359196386DNAH5c.2673A>T (p.Glu891Asp)
c.2628A>T (p.Glu876Asp)
n.2880A>T
c.2781A>T (p.Glu927Asp)
c.1686A>T (p.Glu562Asp)
c.1275A>T (p.Glu425Asp)
n.2798A>T
5g.13886034T>CCA443273687DNAH5c.2673A>G (p.Glu891=)
c.2628A>G (p.Glu876=)
n.2880A>G
c.2781A>G (p.Glu927=)
c.1686A>G (p.Glu562=)
c.1275A>G (p.Glu425=)
n.2798A>G
 ClinVar dbSNP
5g.13886034T>GCA359196389DNAH5c.2673A>C (p.Glu891Asp)
c.2628A>C (p.Glu876Asp)
n.2880A>C
c.2781A>C (p.Glu927Asp)
c.1686A>C (p.Glu562Asp)
c.1275A>C (p.Glu425Asp)
n.2798A>C
5g.13886034T=CA1528483817DNAH5c.2673A= (p.Glu891=)
c.2628A= (p.Glu876=)
n.2880A=
c.2781A= (p.Glu927=)
c.1686A= (p.Glu562=)
c.1275A= (p.Glu425=)
n.2798A=
5g.13886035T>ACA359196393DNAH5c.2672A>T (p.Glu891Val)
c.2627A>T (p.Glu876Val)
n.2879A>T
c.2780A>T (p.Glu927Val)
c.1685A>T (p.Glu562Val)
c.1274A>T (p.Glu425Val)
n.2797A>T
5g.13886035T>CCA359196397DNAH5c.2672A>G (p.Glu891Gly)
c.2627A>G (p.Glu876Gly)
n.2879A>G
c.2780A>G (p.Glu927Gly)
c.1685A>G (p.Glu562Gly)
c.1274A>G (p.Glu425Gly)
n.2797A>G
5g.13886035T>GCA359196394DNAH5c.2672A>C (p.Glu891Ala)
c.2627A>C (p.Glu876Ala)
n.2879A>C
c.2780A>C (p.Glu927Ala)
c.1685A>C (p.Glu562Ala)
c.1274A>C (p.Glu425Ala)
n.2797A>C
5g.13886036C>ACA359196401DNAH5c.2671G>T (p.Glu891Ter)
c.2626G>T (p.Glu876Ter)
n.2878G>T
c.2779G>T (p.Glu927Ter)
c.1684G>T (p.Glu562Ter)
c.1273G>T (p.Glu425Ter)
n.2796G>T
5g.13886036C=CA1528483818DNAH5c.2671G= (p.Glu891=)
c.2626G= (p.Glu876=)
n.2878G=
c.2779G= (p.Glu927=)
c.1684G= (p.Glu562=)
c.1273G= (p.Glu425=)
n.2796G=
5g.13886036C>GCA359196403DNAH5c.2671G>C (p.Glu891Gln)
c.2626G>C (p.Glu876Gln)
n.2878G>C
c.2779G>C (p.Glu927Gln)
c.1684G>C (p.Glu562Gln)
c.1273G>C (p.Glu425Gln)
n.2796G>C
5g.13886036C>TCA359196406DNAH5c.2671G>A (p.Glu891Lys)
c.2626G>A (p.Glu876Lys)
n.2878G>A
c.2779G>A (p.Glu927Lys)
c.1684G>A (p.Glu562Lys)
c.1273G>A (p.Glu425Lys)
n.2796G>A
 dbSNP gnomAD v4 COSMIC
5g.13886037C>ACA443273690DNAH5c.2670G>T (p.Val890=)
c.2625G>T (p.Val875=)
n.2877G>T
c.2778G>T (p.Val926=)
c.1683G>T (p.Val561=)
c.1272G>T (p.Val424=)
n.2795G>T
5g.13886037C=CA1528483819DNAH5c.2670G= (p.Val890=)
c.2625G= (p.Val875=)
n.2877G=
c.2778G= (p.Val926=)
c.1683G= (p.Val561=)
c.1272G= (p.Val424=)
n.2795G=
5g.13886037C>GCA443273689DNAH5c.2670G>C (p.Val890=)
c.2625G>C (p.Val875=)
n.2877G>C
c.2778G>C (p.Val926=)
c.1683G>C (p.Val561=)
c.1272G>C (p.Val424=)
n.2795G>C
5g.13886037C>TCA443273691DNAH5c.2670G>A (p.Val890=)
c.2625G>A (p.Val875=)
n.2877G>A
c.2778G>A (p.Val926=)
c.1683G>A (p.Val561=)
c.1272G>A (p.Val424=)
n.2795G>A
 dbSNP gnomAD v3 gnomAD v4
5g.13886038A>CCA359196407DNAH5c.2669T>G (p.Val890Gly)
c.2624T>G (p.Val875Gly)
n.2876T>G
c.2777T>G (p.Val926Gly)
c.1682T>G (p.Val561Gly)
c.1271T>G (p.Val424Gly)
n.2794T>G
5g.13886038A>GCA359196409DNAH5c.2669T>C (p.Val890Ala)
c.2624T>C (p.Val875Ala)
n.2876T>C
c.2777T>C (p.Val926Ala)
c.1682T>C (p.Val561Ala)
c.1271T>C (p.Val424Ala)
n.2794T>C
5g.13886038A>TCA359196411DNAH5c.2669T>A (p.Val890Glu)
c.2624T>A (p.Val875Glu)
n.2876T>A
c.2777T>A (p.Val926Glu)
c.1682T>A (p.Val561Glu)
c.1271T>A (p.Val424Glu)
n.2794T>A
5g.13886039C>ACA359196414DNAH5c.2668G>T (p.Val890Leu)
c.2623G>T (p.Val875Leu)
n.2875G>T
c.2776G>T (p.Val926Leu)
c.1681G>T (p.Val561Leu)
c.1270G>T (p.Val424Leu)
n.2793G>T
5g.13886039C>GCA359196416DNAH5c.2668G>C (p.Val890Leu)
c.2623G>C (p.Val875Leu)
n.2875G>C
c.2776G>C (p.Val926Leu)
c.1681G>C (p.Val561Leu)
c.1270G>C (p.Val424Leu)
n.2793G>C
5g.13886039C>TCA359196418DNAH5c.2668G>A (p.Val890Met)
c.2623G>A (p.Val875Met)
n.2875G>A
c.2776G>A (p.Val926Met)
c.1681G>A (p.Val561Met)
c.1270G>A (p.Val424Met)
n.2793G>A
5g.13886040A>CCA359196420DNAH5c.2667T>G (p.Asp889Glu)
c.2622T>G (p.Asp874Glu)
n.2874T>G
c.2775T>G (p.Asp925Glu)
c.1680T>G (p.Asp560Glu)
c.1269T>G (p.Asp423Glu)
n.2792T>G
5g.13886040A>GCA443273693DNAH5c.2667T>C (p.Asp889=)
c.2622T>C (p.Asp874=)
n.2874T>C
c.2775T>C (p.Asp925=)
c.1680T>C (p.Asp560=)
c.1269T>C (p.Asp423=)
n.2792T>C
5g.13886040A>TCA359196424DNAH5c.2667T>A (p.Asp889Glu)
c.2622T>A (p.Asp874Glu)
n.2874T>A
c.2775T>A (p.Asp925Glu)
c.1680T>A (p.Asp560Glu)
c.1269T>A (p.Asp423Glu)
n.2792T>A
5g.13886041T>ACA359196430DNAH5c.2666A>T (p.Asp889Val)
c.2621A>T (p.Asp874Val)
n.2873A>T
c.2774A>T (p.Asp925Val)
c.1679A>T (p.Asp560Val)
c.1268A>T (p.Asp423Val)
n.2791A>T
 gnomAD v4
5g.13886041T>CCA359196434DNAH5c.2666A>G (p.Asp889Gly)
c.2621A>G (p.Asp874Gly)
n.2873A>G
c.2774A>G (p.Asp925Gly)
c.1679A>G (p.Asp560Gly)
c.1268A>G (p.Asp423Gly)
n.2791A>G
 gnomAD v4
5g.13886041T>GCA359196432DNAH5c.2666A>C (p.Asp889Ala)
c.2621A>C (p.Asp874Ala)
n.2873A>C
c.2774A>C (p.Asp925Ala)
c.1679A>C (p.Asp560Ala)
c.1268A>C (p.Asp423Ala)
n.2791A>C
5g.13886042C>ACA359196437DNAH5c.2665G>T (p.Asp889Tyr)
c.2620G>T (p.Asp874Tyr)
n.2872G>T
c.2773G>T (p.Asp925Tyr)
c.1678G>T (p.Asp560Tyr)
c.1267G>T (p.Asp423Tyr)
n.2790G>T
5g.13886042C>GCA359196440DNAH5c.2665G>C (p.Asp889His)
c.2620G>C (p.Asp874His)
n.2872G>C
c.2773G>C (p.Asp925His)
c.1678G>C (p.Asp560His)
c.1267G>C (p.Asp423His)
n.2790G>C
 gnomAD v4
5g.13886042C>TCA359196441DNAH5c.2665G>A (p.Asp889Asn)
c.2620G>A (p.Asp874Asn)
n.2872G>A
c.2773G>A (p.Asp925Asn)
c.1678G>A (p.Asp560Asn)
c.1267G>A (p.Asp423Asn)
n.2790G>A
5g.13886043delCA2673277316DNAH5c.2665del (p.Asp889MetfsTer?)
c.2620del (p.Asp874MetfsTer?)
n.2872del
c.2773del (p.Asp925MetfsTer?)
c.1678del (p.Asp560MetfsTer?)
c.1267del (p.Asp423MetfsTer?)
n.2790del
 gnomAD v4
5g.13886043C>ACA443273697DNAH5c.2664G>T (p.Leu888=)
c.2619G>T (p.Leu873=)
n.2871G>T
c.2772G>T (p.Leu924=)
c.1677G>T (p.Leu559=)
c.1266G>T (p.Leu422=)
n.2789G>T
5g.13886043C>GCA443273698DNAH5c.2664G>C (p.Leu888=)
c.2619G>C (p.Leu873=)
n.2871G>C
c.2772G>C (p.Leu924=)
c.1677G>C (p.Leu559=)
c.1266G>C (p.Leu422=)
n.2789G>C
5g.13886043C>TCA443273699DNAH5c.2664G>A (p.Leu888=)
c.2619G>A (p.Leu873=)
n.2871G>A
c.2772G>A (p.Leu924=)
c.1677G>A (p.Leu559=)
c.1266G>A (p.Leu422=)
n.2789G>A
5g.13886044A>CCA359196445DNAH5c.2663T>G (p.Leu888Arg)
c.2618T>G (p.Leu873Arg)
n.2870T>G
c.2771T>G (p.Leu924Arg)
c.1676T>G (p.Leu559Arg)
c.1265T>G (p.Leu422Arg)
n.2788T>G
5g.13886044A>GCA359196447DNAH5c.2663T>C (p.Leu888Pro)
c.2618T>C (p.Leu873Pro)
n.2870T>C
c.2771T>C (p.Leu924Pro)
c.1676T>C (p.Leu559Pro)
c.1265T>C (p.Leu422Pro)
n.2788T>C
5g.13886044A>TCA359196450DNAH5c.2663T>A (p.Leu888Gln)
c.2618T>A (p.Leu873Gln)
n.2870T>A
c.2771T>A (p.Leu924Gln)
c.1676T>A (p.Leu559Gln)
c.1265T>A (p.Leu422Gln)
n.2788T>A
5g.13886045G>ACA3204524DNAH5c.2662C>T (p.Leu888=)
c.2617C>T (p.Leu873=)
n.2869C>T
c.2770C>T (p.Leu924=)
c.1675C>T (p.Leu559=)
c.1264C>T (p.Leu422=)
n.2787C>T
 dbSNP ExAC gnomAD v2
5g.13886045G>CCA359196454DNAH5c.2662C>G (p.Leu888Val)
c.2617C>G (p.Leu873Val)
n.2869C>G
c.2770C>G (p.Leu924Val)
c.1675C>G (p.Leu559Val)
c.1264C>G (p.Leu422Val)
n.2787C>G
5g.13886045G=CA1528483820DNAH5c.2662C= (p.Leu888=)
c.2617C= (p.Leu873=)
n.2869C=
c.2770C= (p.Leu924=)
c.1675C= (p.Leu559=)
c.1264C= (p.Leu422=)
n.2787C=
5g.13886045G>TCA3204525DNAH5c.2662C>A (p.Leu888Met)
c.2617C>A (p.Leu873Met)
n.2869C>A
c.2770C>A (p.Leu924Met)
c.1675C>A (p.Leu559Met)
c.1264C>A (p.Leu422Met)
n.2787C>A
 dbSNP ExAC
5g.13886046C>ACA359196458DNAH5c.2661G>T (p.Leu887Phe)
c.2616G>T (p.Leu872Phe)
n.2868G>T
c.2769G>T (p.Leu923Phe)
c.1674G>T (p.Leu558Phe)
c.1263G>T (p.Leu421Phe)
n.2786G>T
5g.13886046C>GCA359196461DNAH5c.2661G>C (p.Leu887Phe)
c.2616G>C (p.Leu872Phe)
n.2868G>C
c.2769G>C (p.Leu923Phe)
c.1674G>C (p.Leu558Phe)
c.1263G>C (p.Leu421Phe)
n.2786G>C
5g.13886046C>TCA443273700DNAH5c.2661G>A (p.Leu887=)
c.2616G>A (p.Leu872=)
n.2868G>A
c.2769G>A (p.Leu923=)
c.1674G>A (p.Leu558=)
c.1263G>A (p.Leu421=)
n.2786G>A
5g.13886047A>CCA359196469DNAH5c.2660T>G (p.Leu887Trp)
c.2615T>G (p.Leu872Trp)
n.2867T>G
c.2768T>G (p.Leu923Trp)
c.1673T>G (p.Leu558Trp)
c.1262T>G (p.Leu421Trp)
n.2785T>G
5g.13886047A>GCA359196466DNAH5c.2660T>C (p.Leu887Ser)
c.2615T>C (p.Leu872Ser)
n.2867T>C
c.2768T>C (p.Leu923Ser)
c.1673T>C (p.Leu558Ser)
c.1262T>C (p.Leu421Ser)
n.2785T>C
5g.13886047A>TCA359196463DNAH5c.2660T>A (p.Leu887Ter)
c.2615T>A (p.Leu872Ter)
n.2867T>A
c.2768T>A (p.Leu923Ter)
c.1673T>A (p.Leu558Ter)
c.1262T>A (p.Leu421Ter)
n.2785T>A
 ClinVar dbSNP

Number of alleles fetched