Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.13776412C>TCA2673268729DNAH5c.9373+27G>A (n.9373+27G>A)
c.9328+27G>A (n.9328+27G>A)
c.9481+27G>A (n.9481+27G>A)
c.8386+27G>A (n.8386+27G>A)
c.4570+27G>A (n.4570+27G>A)
c.4123+27G>A (n.4123+27G>A)
c.3460+27G>A (n.3460+27G>A)
c.7975+27G>A (n.7975+27G>A)
 gnomAD v4
5g.13776414delCA2673268728DNAH5c.9373+27del (n.9373+27del)
c.9328+27del (n.9328+27del)
c.9481+27del (n.9481+27del)
c.8386+27del (n.8386+27del)
c.4570+27del (n.4570+27del)
c.4123+27del (n.4123+27del)
c.3460+27del (n.3460+27del)
c.7975+27del (n.7975+27del)
 gnomAD v4
5g.13776413C>TCA2673268730DNAH5c.9373+26G>A (n.9373+26G>A)
c.9328+26G>A (n.9328+26G>A)
c.9481+26G>A (n.9481+26G>A)
c.8386+26G>A (n.8386+26G>A)
c.4570+26G>A (n.4570+26G>A)
c.4123+26G>A (n.4123+26G>A)
c.3460+26G>A (n.3460+26G>A)
c.7975+26G>A (n.7975+26G>A)
 gnomAD v4
5g.13776414C>ACA2578270019DNAH5c.9373+25G>T (n.9373+25G>T)
c.9328+25G>T (n.9328+25G>T)
c.9481+25G>T (n.9481+25G>T)
c.8386+25G>T (n.8386+25G>T)
c.4570+25G>T (n.4570+25G>T)
c.4123+25G>T (n.4123+25G>T)
c.3460+25G>T (n.3460+25G>T)
c.7975+25G>T (n.7975+25G>T)
 gnomAD v4
5g.13776414C>TCA2708214353DNAH5c.9373+25G>A (n.9373+25G>A)
c.9328+25G>A (n.9328+25G>A)
c.9481+25G>A (n.9481+25G>A)
c.8386+25G>A (n.8386+25G>A)
c.4570+25G>A (n.4570+25G>A)
c.4123+25G>A (n.4123+25G>A)
c.3460+25G>A (n.3460+25G>A)
c.7975+25G>A (n.7975+25G>A)
 dbSNP
5g.13776414_13776415delinsCTCA1528434987DNAH5c.9373+24_9373+25delinsAG (n.9373+24_9373+25delinsAG)
c.9328+24_9328+25delinsAG (n.9328+24_9328+25delinsAG)
c.9481+24_9481+25delinsAG (n.9481+24_9481+25delinsAG)
c.8386+24_8386+25delinsAG (n.8386+24_8386+25delinsAG)
c.4570+24_4570+25delinsAG (n.4570+24_4570+25delinsAG)
c.4123+24_4123+25delinsAG (n.4123+24_4123+25delinsAG)
c.3460+24_3460+25delinsAG (n.3460+24_3460+25delinsAG)
c.7975+24_7975+25delinsAG (n.7975+24_7975+25delinsAG)
5g.13776415delCA3202573DNAH5c.9373+24del (n.9373+24del)
c.9328+24del (n.9328+24del)
c.9481+24del (n.9481+24del)
c.8386+24del (n.8386+24del)
c.4570+24del (n.4570+24del)
c.4123+24del (n.4123+24del)
c.3460+24del (n.3460+24del)
c.7975+24del (n.7975+24del)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13776415T>GCA2578270021DNAH5c.9373+24A>C (n.9373+24A>C)
c.9328+24A>C (n.9328+24A>C)
c.9481+24A>C (n.9481+24A>C)
c.8386+24A>C (n.8386+24A>C)
c.4570+24A>C (n.4570+24A>C)
c.4123+24A>C (n.4123+24A>C)
c.3460+24A>C (n.3460+24A>C)
c.7975+24A>C (n.7975+24A>C)
5g.13776416G>ACA2765348258DNAH5c.9373+23C>T (n.9373+23C>T)
c.9328+23C>T (n.9328+23C>T)
c.9481+23C>T (n.9481+23C>T)
c.8386+23C>T (n.8386+23C>T)
c.4570+23C>T (n.4570+23C>T)
c.4123+23C>T (n.4123+23C>T)
c.3460+23C>T (n.3460+23C>T)
c.7975+23C>T (n.7975+23C>T)
5g.13776417G>ACA804427054DNAH5c.9373+22C>T (n.9373+22C>T)
c.9328+22C>T (n.9328+22C>T)
c.9481+22C>T (n.9481+22C>T)
c.8386+22C>T (n.8386+22C>T)
c.4570+22C>T (n.4570+22C>T)
c.4123+22C>T (n.4123+22C>T)
c.3460+22C>T (n.3460+22C>T)
c.7975+22C>T (n.7975+22C>T)
 dbSNP
5g.13776417G=CA1528434990DNAH5c.9373+22C= (n.9373+22C=)
c.9328+22C= (n.9328+22C=)
c.9481+22C= (n.9481+22C=)
c.8386+22C= (n.8386+22C=)
c.4570+22C= (n.4570+22C=)
c.4123+22C= (n.4123+22C=)
c.3460+22C= (n.3460+22C=)
c.7975+22C= (n.7975+22C=)
5g.13776417G>TCA649997586DNAH5c.9373+22C>A (n.9373+22C>A)
c.9328+22C>A (n.9328+22C>A)
c.9481+22C>A (n.9481+22C>A)
c.8386+22C>A (n.8386+22C>A)
c.4570+22C>A (n.4570+22C>A)
c.4123+22C>A (n.4123+22C>A)
c.3460+22C>A (n.3460+22C>A)
c.7975+22C>A (n.7975+22C>A)
 COSMIC
5g.13776418C>ACA804427058DNAH5c.9373+21G>T (n.9373+21G>T)
c.9328+21G>T (n.9328+21G>T)
c.9481+21G>T (n.9481+21G>T)
c.8386+21G>T (n.8386+21G>T)
c.4570+21G>T (n.4570+21G>T)
c.4123+21G>T (n.4123+21G>T)
c.3460+21G>T (n.3460+21G>T)
c.7975+21G>T (n.7975+21G>T)
 dbSNP gnomAD v3 gnomAD v4
5g.13776418C=CA1528434992DNAH5c.9373+21G= (n.9373+21G=)
c.9328+21G= (n.9328+21G=)
c.9481+21G= (n.9481+21G=)
c.8386+21G= (n.8386+21G=)
c.4570+21G= (n.4570+21G=)
c.4123+21G= (n.4123+21G=)
c.3460+21G= (n.3460+21G=)
c.7975+21G= (n.7975+21G=)
5g.13776423A>TCA2740617141DNAH5c.9373+16T>A (n.9373+16T>A)
c.9328+16T>A (n.9328+16T>A)
c.9481+16T>A (n.9481+16T>A)
c.8386+16T>A (n.8386+16T>A)
c.4570+16T>A (n.4570+16T>A)
c.4123+16T>A (n.4123+16T>A)
c.3460+16T>A (n.3460+16T>A)
c.7975+16T>A (n.7975+16T>A)
5g.13776426T>ACA2578270022DNAH5c.9373+13A>T (n.9373+13A>T)
c.9328+13A>T (n.9328+13A>T)
c.9481+13A>T (n.9481+13A>T)
c.8386+13A>T (n.8386+13A>T)
c.4570+13A>T (n.4570+13A>T)
c.4123+13A>T (n.4123+13A>T)
c.3460+13A>T (n.3460+13A>T)
c.7975+13A>T (n.7975+13A>T)
5g.13776426T>CCA2697547082DNAH5c.9373+13A>G (n.9373+13A>G)
c.9328+13A>G (n.9328+13A>G)
c.9481+13A>G (n.9481+13A>G)
c.8386+13A>G (n.8386+13A>G)
c.4570+13A>G (n.4570+13A>G)
c.4123+13A>G (n.4123+13A>G)
c.3460+13A>G (n.3460+13A>G)
c.7975+13A>G (n.7975+13A>G)
 ClinVar
5g.13776429C>ACA3202574DNAH5c.9373+10G>T (n.9373+10G>T)
c.9328+10G>T (n.9328+10G>T)
c.9481+10G>T (n.9481+10G>T)
c.8386+10G>T (n.8386+10G>T)
c.4570+10G>T (n.4570+10G>T)
c.4123+10G>T (n.4123+10G>T)
c.3460+10G>T (n.3460+10G>T)
c.7975+10G>T (n.7975+10G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13776429C=CA1528434994DNAH5c.9373+10G= (n.9373+10G=)
c.9328+10G= (n.9328+10G=)
c.9481+10G= (n.9481+10G=)
c.8386+10G= (n.8386+10G=)
c.4570+10G= (n.4570+10G=)
c.4123+10G= (n.4123+10G=)
c.3460+10G= (n.3460+10G=)
c.7975+10G= (n.7975+10G=)
5g.13776430C>TCA2573138466DNAH5c.9373+9G>A (n.9373+9G>A)
c.9328+9G>A (n.9328+9G>A)
c.9481+9G>A (n.9481+9G>A)
c.8386+9G>A (n.8386+9G>A)
c.4570+9G>A (n.4570+9G>A)
c.4123+9G>A (n.4123+9G>A)
c.3460+9G>A (n.3460+9G>A)
c.7975+9G>A (n.7975+9G>A)
 ClinVar dbSNP
5g.13776431A=CA1528434997DNAH5c.9373+8T= (n.9373+8T=)
c.9328+8T= (n.9328+8T=)
c.9481+8T= (n.9481+8T=)
c.8386+8T= (n.8386+8T=)
c.4570+8T= (n.4570+8T=)
c.4123+8T= (n.4123+8T=)
c.3460+8T= (n.3460+8T=)
c.7975+8T= (n.7975+8T=)
5g.13776431A>GCA1528434998DNAH5c.9373+8T>C (n.9373+8T>C)
c.9328+8T>C (n.9328+8T>C)
c.9481+8T>C (n.9481+8T>C)
c.8386+8T>C (n.8386+8T>C)
c.4570+8T>C (n.4570+8T>C)
c.4123+8T>C (n.4123+8T>C)
c.3460+8T>C (n.3460+8T>C)
c.7975+8T>C (n.7975+8T>C)
 dbSNP gnomAD v4
5g.13776431A>TCA3202575DNAH5c.9373+8T>A (n.9373+8T>A)
c.9328+8T>A (n.9328+8T>A)
c.9481+8T>A (n.9481+8T>A)
c.8386+8T>A (n.8386+8T>A)
c.4570+8T>A (n.4570+8T>A)
c.4123+8T>A (n.4123+8T>A)
c.3460+8T>A (n.3460+8T>A)
c.7975+8T>A (n.7975+8T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13776432T>CCA1528435001DNAH5c.9373+7A>G (n.9373+7A>G)
c.9328+7A>G (n.9328+7A>G)
c.9481+7A>G (n.9481+7A>G)
c.8386+7A>G (n.8386+7A>G)
c.4570+7A>G (n.4570+7A>G)
c.4123+7A>G (n.4123+7A>G)
c.3460+7A>G (n.3460+7A>G)
c.7975+7A>G (n.7975+7A>G)
 dbSNP gnomAD v4
5g.13776432T=CA1528435000DNAH5c.9373+7A= (n.9373+7A=)
c.9328+7A= (n.9328+7A=)
c.9481+7A= (n.9481+7A=)
c.8386+7A= (n.8386+7A=)
c.4570+7A= (n.4570+7A=)
c.4123+7A= (n.4123+7A=)
c.3460+7A= (n.3460+7A=)
c.7975+7A= (n.7975+7A=)
5g.13776433A=CA1528435005DNAH5c.9373+6T= (n.9373+6T=)
c.9328+6T= (n.9328+6T=)
c.9481+6T= (n.9481+6T=)
c.8386+6T= (n.8386+6T=)
c.4570+6T= (n.4570+6T=)
c.4123+6T= (n.4123+6T=)
c.3460+6T= (n.3460+6T=)
c.7975+6T= (n.7975+6T=)
5g.13776433A>GCA3202576DNAH5c.9373+6T>C (n.9373+6T>C)
c.9328+6T>C (n.9328+6T>C)
c.9481+6T>C (n.9481+6T>C)
c.8386+6T>C (n.8386+6T>C)
c.4570+6T>C (n.4570+6T>C)
c.4123+6T>C (n.4123+6T>C)
c.3460+6T>C (n.3460+6T>C)
c.7975+6T>C (n.7975+6T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13776434C>GCA2673268731DNAH5c.9373+5G>C (n.9373+5G>C)
c.9328+5G>C (n.9328+5G>C)
c.9481+5G>C (n.9481+5G>C)
c.8386+5G>C (n.8386+5G>C)
c.4570+5G>C (n.4570+5G>C)
c.4123+5G>C (n.4123+5G>C)
c.3460+5G>C (n.3460+5G>C)
c.7975+5G>C (n.7975+5G>C)
 gnomAD v4
5g.13776435T>CCA2673268732DNAH5c.9373+4A>G (n.9373+4A>G)
c.9328+4A>G (n.9328+4A>G)
c.9481+4A>G (n.9481+4A>G)
c.8386+4A>G (n.8386+4A>G)
c.4570+4A>G (n.4570+4A>G)
c.4123+4A>G (n.4123+4A>G)
c.3460+4A>G (n.3460+4A>G)
c.7975+4A>G (n.7975+4A>G)
 gnomAD v4
5g.13776436A>TCA2578270024DNAH5c.9373+3T>A (n.9373+3T>A)
c.9328+3T>A (n.9328+3T>A)
c.9481+3T>A (n.9481+3T>A)
c.8386+3T>A (n.8386+3T>A)
c.4570+3T>A (n.4570+3T>A)
c.4123+3T>A (n.4123+3T>A)
c.3460+3T>A (n.3460+3T>A)
c.7975+3T>A (n.7975+3T>A)
5g.13776437A>CCA359207655DNAH5c.9373+2T>G (n.9373+2T>G)
c.9328+2T>G (n.9328+2T>G)
c.9481+2T>G (n.9481+2T>G)
c.8386+2T>G (n.8386+2T>G)
c.4570+2T>G (n.4570+2T>G)
c.4123+2T>G (n.4123+2T>G)
c.3460+2T>G (n.3460+2T>G)
c.7975+2T>G (n.7975+2T>G)
5g.13776437A>GCA359207656DNAH5c.9373+2T>C (n.9373+2T>C)
c.9328+2T>C (n.9328+2T>C)
c.9481+2T>C (n.9481+2T>C)
c.8386+2T>C (n.8386+2T>C)
c.4570+2T>C (n.4570+2T>C)
c.4123+2T>C (n.4123+2T>C)
c.3460+2T>C (n.3460+2T>C)
c.7975+2T>C (n.7975+2T>C)
5g.13776437A>TCA359207657DNAH5c.9373+2T>A (n.9373+2T>A)
c.9328+2T>A (n.9328+2T>A)
c.9481+2T>A (n.9481+2T>A)
c.8386+2T>A (n.8386+2T>A)
c.4570+2T>A (n.4570+2T>A)
c.4123+2T>A (n.4123+2T>A)
c.3460+2T>A (n.3460+2T>A)
c.7975+2T>A (n.7975+2T>A)
5g.13776438C>ACA359207658DNAH5c.9373+1G>T (n.9373+1G>T)
c.9328+1G>T (n.9328+1G>T)
c.9481+1G>T (n.9481+1G>T)
c.8386+1G>T (n.8386+1G>T)
c.4570+1G>T (n.4570+1G>T)
c.4123+1G>T (n.4123+1G>T)
c.3460+1G>T (n.3460+1G>T)
c.7975+1G>T (n.7975+1G>T)
 ClinVar
5g.13776438C=CA1528435009DNAH5c.9373+1G= (n.9373+1G=)
c.9328+1G= (n.9328+1G=)
c.9481+1G= (n.9481+1G=)
c.8386+1G= (n.8386+1G=)
c.4570+1G= (n.4570+1G=)
c.4123+1G= (n.4123+1G=)
c.3460+1G= (n.3460+1G=)
c.7975+1G= (n.7975+1G=)
5g.13776438C>GCA359207665DNAH5c.9373+1G>C (n.9373+1G>C)
c.9328+1G>C (n.9328+1G>C)
c.9481+1G>C (n.9481+1G>C)
c.8386+1G>C (n.8386+1G>C)
c.4570+1G>C (n.4570+1G>C)
c.4123+1G>C (n.4123+1G>C)
c.3460+1G>C (n.3460+1G>C)
c.7975+1G>C (n.7975+1G>C)
 ClinVar dbSNP
5g.13776438C>TCA359207669DNAH5c.9373+1G>A (n.9373+1G>A)
c.9328+1G>A (n.9328+1G>A)
c.9481+1G>A (n.9481+1G>A)
c.8386+1G>A (n.8386+1G>A)
c.4570+1G>A (n.4570+1G>A)
c.4123+1G>A (n.4123+1G>A)
c.3460+1G>A (n.3460+1G>A)
c.7975+1G>A (n.7975+1G>A)
5g.13776439C>ACA359207688DNAH5c.9373G>T (p.Val3125Leu)
c.9328G>T (p.Val3110Leu)
c.9481G>T (p.Val3161Leu)
c.8386G>T (p.Val2796Leu)
c.4570G>T (p.Val1524Leu)
c.4123G>T (p.Val1375Leu)
c.3460G>T (p.Val1154Leu)
c.7975G>T (p.Val2659Leu)
5g.13776439C>GCA359207676DNAH5c.9373G>C (p.Val3125Leu)
c.9328G>C (p.Val3110Leu)
c.9481G>C (p.Val3161Leu)
c.8386G>C (p.Val2796Leu)
c.4570G>C (p.Val1524Leu)
c.4123G>C (p.Val1375Leu)
c.3460G>C (p.Val1154Leu)
c.7975G>C (p.Val2659Leu)
5g.13776439C>TCA359207681DNAH5c.9373G>A (p.Val3125Met)
c.9328G>A (p.Val3110Met)
c.9481G>A (p.Val3161Met)
c.8386G>A (p.Val2796Met)
c.4570G>A (p.Val1524Met)
c.4123G>A (p.Val1375Met)
c.3460G>A (p.Val1154Met)
c.7975G>A (p.Val2659Met)
5g.13776440A>CCA443535631DNAH5c.9372T>G (p.Ala3124=)
c.9327T>G (p.Ala3109=)
c.9480T>G (p.Ala3160=)
c.8385T>G (p.Ala2795=)
c.4569T>G (p.Ala1523=)
c.4122T>G (p.Ala1374=)
c.3459T>G (p.Ala1153=)
c.7974T>G (p.Ala2658=)
5g.13776440A>GCA443535632DNAH5c.9372T>C (p.Ala3124=)
c.9327T>C (p.Ala3109=)
c.9480T>C (p.Ala3160=)
c.8385T>C (p.Ala2795=)
c.4569T>C (p.Ala1523=)
c.4122T>C (p.Ala1374=)
c.3459T>C (p.Ala1153=)
c.7974T>C (p.Ala2658=)
5g.13776440A>TCA443535633DNAH5c.9372T>A (p.Ala3124=)
c.9327T>A (p.Ala3109=)
c.9480T>A (p.Ala3160=)
c.8385T>A (p.Ala2795=)
c.4569T>A (p.Ala1523=)
c.4122T>A (p.Ala1374=)
c.3459T>A (p.Ala1153=)
c.7974T>A (p.Ala2658=)
5g.13776441G>ACA359207700DNAH5c.9371C>T (p.Ala3124Val)
c.9326C>T (p.Ala3109Val)
c.9479C>T (p.Ala3160Val)
c.8384C>T (p.Ala2795Val)
c.4568C>T (p.Ala1523Val)
c.4121C>T (p.Ala1374Val)
c.3458C>T (p.Ala1153Val)
c.7973C>T (p.Ala2658Val)
5g.13776441G>CCA359207705DNAH5c.9371C>G (p.Ala3124Gly)
c.9326C>G (p.Ala3109Gly)
c.9479C>G (p.Ala3160Gly)
c.8384C>G (p.Ala2795Gly)
c.4568C>G (p.Ala1523Gly)
c.4121C>G (p.Ala1374Gly)
c.3458C>G (p.Ala1153Gly)
c.7973C>G (p.Ala2658Gly)
5g.13776441G>TCA359207708DNAH5c.9371C>A (p.Ala3124Asp)
c.9326C>A (p.Ala3109Asp)
c.9479C>A (p.Ala3160Asp)
c.8384C>A (p.Ala2795Asp)
c.4568C>A (p.Ala1523Asp)
c.4121C>A (p.Ala1374Asp)
c.3458C>A (p.Ala1153Asp)
c.7973C>A (p.Ala2658Asp)
5g.13776442C>ACA359207730DNAH5c.9370G>T (p.Ala3124Ser)
c.9325G>T (p.Ala3109Ser)
c.9478G>T (p.Ala3160Ser)
c.8383G>T (p.Ala2795Ser)
c.4567G>T (p.Ala1523Ser)
c.4120G>T (p.Ala1374Ser)
c.3457G>T (p.Ala1153Ser)
c.7972G>T (p.Ala2658Ser)
5g.13776442C>GCA359207733DNAH5c.9370G>C (p.Ala3124Pro)
c.9325G>C (p.Ala3109Pro)
c.9478G>C (p.Ala3160Pro)
c.8383G>C (p.Ala2795Pro)
c.4567G>C (p.Ala1523Pro)
c.4120G>C (p.Ala1374Pro)
c.3457G>C (p.Ala1153Pro)
c.7972G>C (p.Ala2658Pro)
5g.13776442C>TCA359207741DNAH5c.9370G>A (p.Ala3124Thr)
c.9325G>A (p.Ala3109Thr)
c.9478G>A (p.Ala3160Thr)
c.8383G>A (p.Ala2795Thr)
c.4567G>A (p.Ala1523Thr)
c.4120G>A (p.Ala1374Thr)
c.3457G>A (p.Ala1153Thr)
c.7972G>A (p.Ala2658Thr)
5g.13776443A>CCA443535634DNAH5c.9369T>G (p.Val3123=)
c.9324T>G (p.Val3108=)
c.9477T>G (p.Val3159=)
c.8382T>G (p.Val2794=)
c.4566T>G (p.Val1522=)
c.4119T>G (p.Val1373=)
c.3456T>G (p.Val1152=)
c.7971T>G (p.Val2657=)
5g.13776443A>GCA443535635DNAH5c.9369T>C (p.Val3123=)
c.9324T>C (p.Val3108=)
c.9477T>C (p.Val3159=)
c.8382T>C (p.Val2794=)
c.4566T>C (p.Val1522=)
c.4119T>C (p.Val1373=)
c.3456T>C (p.Val1152=)
c.7971T>C (p.Val2657=)
5g.13776443A>TCA443535636DNAH5c.9369T>A (p.Val3123=)
c.9324T>A (p.Val3108=)
c.9477T>A (p.Val3159=)
c.8382T>A (p.Val2794=)
c.4566T>A (p.Val1522=)
c.4119T>A (p.Val1373=)
c.3456T>A (p.Val1152=)
c.7971T>A (p.Val2657=)
5g.13776444A>CCA359207744DNAH5c.9368T>G (p.Val3123Gly)
c.9323T>G (p.Val3108Gly)
c.9476T>G (p.Val3159Gly)
c.8381T>G (p.Val2794Gly)
c.4565T>G (p.Val1522Gly)
c.4118T>G (p.Val1373Gly)
c.3455T>G (p.Val1152Gly)
c.7970T>G (p.Val2657Gly)
5g.13776444A>GCA359207752DNAH5c.9368T>C (p.Val3123Ala)
c.9323T>C (p.Val3108Ala)
c.9476T>C (p.Val3159Ala)
c.8381T>C (p.Val2794Ala)
c.4565T>C (p.Val1522Ala)
c.4118T>C (p.Val1373Ala)
c.3455T>C (p.Val1152Ala)
c.7970T>C (p.Val2657Ala)
5g.13776444A>TCA359207767DNAH5c.9368T>A (p.Val3123Asp)
c.9323T>A (p.Val3108Asp)
c.9476T>A (p.Val3159Asp)
c.8381T>A (p.Val2794Asp)
c.4565T>A (p.Val1522Asp)
c.4118T>A (p.Val1373Asp)
c.3455T>A (p.Val1152Asp)
c.7970T>A (p.Val2657Asp)
5g.13776445C>ACA359207773DNAH5c.9367G>T (p.Val3123Phe)
c.9322G>T (p.Val3108Phe)
c.9475G>T (p.Val3159Phe)
c.8380G>T (p.Val2794Phe)
c.4564G>T (p.Val1522Phe)
c.4117G>T (p.Val1373Phe)
c.3454G>T (p.Val1152Phe)
c.7969G>T (p.Val2657Phe)
5g.13776445C=CA1528435014DNAH5c.9367G= (p.Val3123=)
c.9322G= (p.Val3108=)
c.9475G= (p.Val3159=)
c.8380G= (p.Val2794=)
c.4564G= (p.Val1522=)
c.4117G= (p.Val1373=)
c.3454G= (p.Val1152=)
c.7969G= (p.Val2657=)
5g.13776445C>GCA359207775DNAH5c.9367G>C (p.Val3123Leu)
c.9322G>C (p.Val3108Leu)
c.9475G>C (p.Val3159Leu)
c.8380G>C (p.Val2794Leu)
c.4564G>C (p.Val1522Leu)
c.4117G>C (p.Val1373Leu)
c.3454G>C (p.Val1152Leu)
c.7969G>C (p.Val2657Leu)
5g.13776445C>TCA359207783DNAH5c.9367G>A (p.Val3123Ile)
c.9322G>A (p.Val3108Ile)
c.9475G>A (p.Val3159Ile)
c.8380G>A (p.Val2794Ile)
c.4564G>A (p.Val1522Ile)
c.4117G>A (p.Val1373Ile)
c.3454G>A (p.Val1152Ile)
c.7969G>A (p.Val2657Ile)
 dbSNP gnomAD v2 gnomAD v4
5g.13776446T>ACA359207790DNAH5c.9366A>T (p.Leu3122Phe)
c.9321A>T (p.Leu3107Phe)
c.9474A>T (p.Leu3158Phe)
c.8379A>T (p.Leu2793Phe)
c.4563A>T (p.Leu1521Phe)
c.4116A>T (p.Leu1372Phe)
c.3453A>T (p.Leu1151Phe)
c.7968A>T (p.Leu2656Phe)
5g.13776446T>CCA443535642DNAH5c.9366A>G (p.Leu3122=)
c.9321A>G (p.Leu3107=)
c.9474A>G (p.Leu3158=)
c.8379A>G (p.Leu2793=)
c.4563A>G (p.Leu1521=)
c.4116A>G (p.Leu1372=)
c.3453A>G (p.Leu1151=)
c.7968A>G (p.Leu2656=)
5g.13776446T>GCA359207788DNAH5c.9366A>C (p.Leu3122Phe)
c.9321A>C (p.Leu3107Phe)
c.9474A>C (p.Leu3158Phe)
c.8379A>C (p.Leu2793Phe)
c.4563A>C (p.Leu1521Phe)
c.4116A>C (p.Leu1372Phe)
c.3453A>C (p.Leu1151Phe)
c.7968A>C (p.Leu2656Phe)
5g.13776446_13776447delinsTACA1528435018DNAH5c.9365_9366delinsTA (p.Leu3122=)
c.9320_9321delinsTA (p.Leu3107=)
c.9473_9474delinsTA (p.Leu3158=)
c.8378_8379delinsTA (p.Leu2793=)
c.4562_4563delinsTA (p.Leu1521=)
c.4115_4116delinsTA (p.Leu1372=)
c.3452_3453delinsTA (p.Leu1151=)
c.7967_7968delinsTA (p.Leu2656=)
5g.13776447A>CCA359207791DNAH5c.9365T>G (p.Leu3122Ter)
c.9320T>G (p.Leu3107Ter)
c.9473T>G (p.Leu3158Ter)
c.8378T>G (p.Leu2793Ter)
c.4562T>G (p.Leu1521Ter)
c.4115T>G (p.Leu1372Ter)
c.3452T>G (p.Leu1151Ter)
c.7967T>G (p.Leu2656Ter)
5g.13776447A>GCA359207792DNAH5c.9365T>C (p.Leu3122Ser)
c.9320T>C (p.Leu3107Ser)
c.9473T>C (p.Leu3158Ser)
c.8378T>C (p.Leu2793Ser)
c.4562T>C (p.Leu1521Ser)
c.4115T>C (p.Leu1372Ser)
c.3452T>C (p.Leu1151Ser)
c.7967T>C (p.Leu2656Ser)
 gnomAD v4
5g.13776447A>TCA359207794DNAH5c.9365T>A (p.Leu3122Ter)
c.9320T>A (p.Leu3107Ter)
c.9473T>A (p.Leu3158Ter)
c.8378T>A (p.Leu2793Ter)
c.4562T>A (p.Leu1521Ter)
c.4115T>A (p.Leu1372Ter)
c.3452T>A (p.Leu1151Ter)
c.7967T>A (p.Leu2656Ter)
 dbSNP
5g.13776449delCA16609697DNAH5c.9365del (p.Leu3122Ter)
c.9320del (p.Leu3107Ter)
c.9473del (p.Leu3158Ter)
c.8378del (p.Leu2793Ter)
c.4562del (p.Leu1521Ter)
c.4115del (p.Leu1372Ter)
c.3452del (p.Leu1151Ter)
c.7967del (p.Leu2656Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13776448A>CCA359207802DNAH5c.9364T>G (p.Leu3122Val)
c.9319T>G (p.Leu3107Val)
c.9472T>G (p.Leu3158Val)
c.8377T>G (p.Leu2793Val)
c.4561T>G (p.Leu1521Val)
c.4114T>G (p.Leu1372Val)
c.3451T>G (p.Leu1151Val)
c.7966T>G (p.Leu2656Val)
5g.13776448A>GCA443535644DNAH5c.9364T>C (p.Leu3122=)
c.9319T>C (p.Leu3107=)
c.9472T>C (p.Leu3158=)
c.8377T>C (p.Leu2793=)
c.4561T>C (p.Leu1521=)
c.4114T>C (p.Leu1372=)
c.3451T>C (p.Leu1151=)
c.7966T>C (p.Leu2656=)
5g.13776448A>TCA359207809DNAH5c.9364T>A (p.Leu3122Ile)
c.9319T>A (p.Leu3107Ile)
c.9472T>A (p.Leu3158Ile)
c.8377T>A (p.Leu2793Ile)
c.4561T>A (p.Leu1521Ile)
c.4114T>A (p.Leu1372Ile)
c.3451T>A (p.Leu1151Ile)
c.7966T>A (p.Leu2656Ile)
5g.13776449A>CCA443535645DNAH5c.9363T>G (p.Ala3121=)
c.9318T>G (p.Ala3106=)
c.9471T>G (p.Ala3157=)
c.8376T>G (p.Ala2792=)
c.4560T>G (p.Ala1520=)
c.4113T>G (p.Ala1371=)
c.3450T>G (p.Ala1150=)
c.7965T>G (p.Ala2655=)
5g.13776449A>GCA443535646DNAH5c.9363T>C (p.Ala3121=)
c.9318T>C (p.Ala3106=)
c.9471T>C (p.Ala3157=)
c.8376T>C (p.Ala2792=)
c.4560T>C (p.Ala1520=)
c.4113T>C (p.Ala1371=)
c.3450T>C (p.Ala1150=)
c.7965T>C (p.Ala2655=)
5g.13776449A>TCA443535648DNAH5c.9363T>A (p.Ala3121=)
c.9318T>A (p.Ala3106=)
c.9471T>A (p.Ala3157=)
c.8376T>A (p.Ala2792=)
c.4560T>A (p.Ala1520=)
c.4113T>A (p.Ala1371=)
c.3450T>A (p.Ala1150=)
c.7965T>A (p.Ala2655=)
5g.13776450G>ACA359207816DNAH5c.9362C>T (p.Ala3121Val)
c.9317C>T (p.Ala3106Val)
c.9470C>T (p.Ala3157Val)
c.8375C>T (p.Ala2792Val)
c.4559C>T (p.Ala1520Val)
c.4112C>T (p.Ala1371Val)
c.3449C>T (p.Ala1150Val)
c.7964C>T (p.Ala2655Val)
 gnomAD v4
5g.13776450G>CCA359207819DNAH5c.9362C>G (p.Ala3121Gly)
c.9317C>G (p.Ala3106Gly)
c.9470C>G (p.Ala3157Gly)
c.8375C>G (p.Ala2792Gly)
c.4559C>G (p.Ala1520Gly)
c.4112C>G (p.Ala1371Gly)
c.3449C>G (p.Ala1150Gly)
c.7964C>G (p.Ala2655Gly)
 dbSNP gnomAD v2 gnomAD v4
5g.13776450G=CA1528435027DNAH5c.9362C= (p.Ala3121=)
c.9317C= (p.Ala3106=)
c.9470C= (p.Ala3157=)
c.8375C= (p.Ala2792=)
c.4559C= (p.Ala1520=)
c.4112C= (p.Ala1371=)
c.3449C= (p.Ala1150=)
c.7964C= (p.Ala2655=)
5g.13776450G>TCA359207825DNAH5c.9362C>A (p.Ala3121Asp)
c.9317C>A (p.Ala3106Asp)
c.9470C>A (p.Ala3157Asp)
c.8375C>A (p.Ala2792Asp)
c.4559C>A (p.Ala1520Asp)
c.4112C>A (p.Ala1371Asp)
c.3449C>A (p.Ala1150Asp)
c.7964C>A (p.Ala2655Asp)
5g.13776451C>ACA359207829DNAH5c.9361G>T (p.Ala3121Ser)
c.9316G>T (p.Ala3106Ser)
c.9469G>T (p.Ala3157Ser)
c.8374G>T (p.Ala2792Ser)
c.4558G>T (p.Ala1520Ser)
c.4111G>T (p.Ala1371Ser)
c.3448G>T (p.Ala1150Ser)
c.7963G>T (p.Ala2655Ser)
5g.13776451C>GCA359207833DNAH5c.9361G>C (p.Ala3121Pro)
c.9316G>C (p.Ala3106Pro)
c.9469G>C (p.Ala3157Pro)
c.8374G>C (p.Ala2792Pro)
c.4558G>C (p.Ala1520Pro)
c.4111G>C (p.Ala1371Pro)
c.3448G>C (p.Ala1150Pro)
c.7963G>C (p.Ala2655Pro)
5g.13776451C>TCA359207836DNAH5c.9361G>A (p.Ala3121Thr)
c.9316G>A (p.Ala3106Thr)
c.9469G>A (p.Ala3157Thr)
c.8374G>A (p.Ala2792Thr)
c.4558G>A (p.Ala1520Thr)
c.4111G>A (p.Ala1371Thr)
c.3448G>A (p.Ala1150Thr)
c.7963G>A (p.Ala2655Thr)
 gnomAD v4
5g.13776452A>CCA359207843DNAH5c.9360T>G (p.Asp3120Glu)
c.9315T>G (p.Asp3105Glu)
c.9468T>G (p.Asp3156Glu)
c.8373T>G (p.Asp2791Glu)
c.4557T>G (p.Asp1519Glu)
c.4110T>G (p.Asp1370Glu)
c.3447T>G (p.Asp1149Glu)
c.7962T>G (p.Asp2654Glu)
5g.13776452A>GCA443535650DNAH5c.9360T>C (p.Asp3120=)
c.9315T>C (p.Asp3105=)
c.9468T>C (p.Asp3156=)
c.8373T>C (p.Asp2791=)
c.4557T>C (p.Asp1519=)
c.4110T>C (p.Asp1370=)
c.3447T>C (p.Asp1149=)
c.7962T>C (p.Asp2654=)
5g.13776452A>TCA359207847DNAH5c.9360T>A (p.Asp3120Glu)
c.9315T>A (p.Asp3105Glu)
c.9468T>A (p.Asp3156Glu)
c.8373T>A (p.Asp2791Glu)
c.4557T>A (p.Asp1519Glu)
c.4110T>A (p.Asp1370Glu)
c.3447T>A (p.Asp1149Glu)
c.7962T>A (p.Asp2654Glu)
5g.13776453T>ACA359207866DNAH5c.9359A>T (p.Asp3120Val)
c.9314A>T (p.Asp3105Val)
c.9467A>T (p.Asp3156Val)
c.8372A>T (p.Asp2791Val)
c.4556A>T (p.Asp1519Val)
c.4109A>T (p.Asp1370Val)
c.3446A>T (p.Asp1149Val)
c.7961A>T (p.Asp2654Val)
5g.13776453T>CCA359207862DNAH5c.9359A>G (p.Asp3120Gly)
c.9314A>G (p.Asp3105Gly)
c.9467A>G (p.Asp3156Gly)
c.8372A>G (p.Asp2791Gly)
c.4556A>G (p.Asp1519Gly)
c.4109A>G (p.Asp1370Gly)
c.3446A>G (p.Asp1149Gly)
c.7961A>G (p.Asp2654Gly)
 dbSNP gnomAD v4
5g.13776453T>GCA359207856DNAH5c.9359A>C (p.Asp3120Ala)
c.9314A>C (p.Asp3105Ala)
c.9467A>C (p.Asp3156Ala)
c.8372A>C (p.Asp2791Ala)
c.4556A>C (p.Asp1519Ala)
c.4109A>C (p.Asp1370Ala)
c.3446A>C (p.Asp1149Ala)
c.7961A>C (p.Asp2654Ala)
5g.13776454C>ACA359207873DNAH5c.9358G>T (p.Asp3120Tyr)
c.9313G>T (p.Asp3105Tyr)
c.9466G>T (p.Asp3156Tyr)
c.8371G>T (p.Asp2791Tyr)
c.4555G>T (p.Asp1519Tyr)
c.4108G>T (p.Asp1370Tyr)
c.3445G>T (p.Asp1149Tyr)
c.7960G>T (p.Asp2654Tyr)
5g.13776454C>GCA359207883DNAH5c.9358G>C (p.Asp3120His)
c.9313G>C (p.Asp3105His)
c.9466G>C (p.Asp3156His)
c.8371G>C (p.Asp2791His)
c.4555G>C (p.Asp1519His)
c.4108G>C (p.Asp1370His)
c.3445G>C (p.Asp1149His)
c.7960G>C (p.Asp2654His)
 gnomAD v4
5g.13776454C>TCA359207886DNAH5c.9358G>A (p.Asp3120Asn)
c.9313G>A (p.Asp3105Asn)
c.9466G>A (p.Asp3156Asn)
c.8371G>A (p.Asp2791Asn)
c.4555G>A (p.Asp1519Asn)
c.4108G>A (p.Asp1370Asn)
c.3445G>A (p.Asp1149Asn)
c.7960G>A (p.Asp2654Asn)
5g.13776455T>ACA359207890DNAH5c.9357A>T (p.Lys3119Asn)
c.9312A>T (p.Lys3104Asn)
c.9465A>T (p.Lys3155Asn)
c.8370A>T (p.Lys2790Asn)
c.4554A>T (p.Lys1518Asn)
c.4107A>T (p.Lys1369Asn)
c.3444A>T (p.Lys1148Asn)
c.7959A>T (p.Lys2653Asn)
5g.13776455T>CCA443535655DNAH5c.9357A>G (p.Lys3119=)
c.9312A>G (p.Lys3104=)
c.9465A>G (p.Lys3155=)
c.8370A>G (p.Lys2790=)
c.4554A>G (p.Lys1518=)
c.4107A>G (p.Lys1369=)
c.3444A>G (p.Lys1148=)
c.7959A>G (p.Lys2653=)
 gnomAD v4
5g.13776455T>GCA359207899DNAH5c.9357A>C (p.Lys3119Asn)
c.9312A>C (p.Lys3104Asn)
c.9465A>C (p.Lys3155Asn)
c.8370A>C (p.Lys2790Asn)
c.4554A>C (p.Lys1518Asn)
c.4107A>C (p.Lys1369Asn)
c.3444A>C (p.Lys1148Asn)
c.7959A>C (p.Lys2653Asn)
 gnomAD v4
5g.13776456T>ACA359207900DNAH5c.9356A>T (p.Lys3119Ile)
c.9311A>T (p.Lys3104Ile)
c.9464A>T (p.Lys3155Ile)
c.8369A>T (p.Lys2790Ile)
c.4553A>T (p.Lys1518Ile)
c.4106A>T (p.Lys1369Ile)
c.3443A>T (p.Lys1148Ile)
c.7958A>T (p.Lys2653Ile)
5g.13776456T>CCA359207901DNAH5c.9356A>G (p.Lys3119Arg)
c.9311A>G (p.Lys3104Arg)
c.9464A>G (p.Lys3155Arg)
c.8369A>G (p.Lys2790Arg)
c.4553A>G (p.Lys1518Arg)
c.4106A>G (p.Lys1369Arg)
c.3443A>G (p.Lys1148Arg)
c.7958A>G (p.Lys2653Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13776456T>GCA359207906DNAH5c.9356A>C (p.Lys3119Thr)
c.9311A>C (p.Lys3104Thr)
c.9464A>C (p.Lys3155Thr)
c.8369A>C (p.Lys2790Thr)
c.4553A>C (p.Lys1518Thr)
c.4106A>C (p.Lys1369Thr)
c.3443A>C (p.Lys1148Thr)
c.7958A>C (p.Lys2653Thr)
5g.13776456T=CA1528435030DNAH5c.9356A= (p.Lys3119=)
c.9311A= (p.Lys3104=)
c.9464A= (p.Lys3155=)
c.8369A= (p.Lys2790=)
c.4553A= (p.Lys1518=)
c.4106A= (p.Lys1369=)
c.3443A= (p.Lys1148=)
c.7958A= (p.Lys2653=)
5g.13776457T>ACA359207908DNAH5c.9355A>T (p.Lys3119Ter)
c.9310A>T (p.Lys3104Ter)
c.9463A>T (p.Lys3155Ter)
c.8368A>T (p.Lys2790Ter)
c.4552A>T (p.Lys1518Ter)
c.4105A>T (p.Lys1369Ter)
c.3442A>T (p.Lys1148Ter)
c.7957A>T (p.Lys2653Ter)
5g.13776457T>CCA203173DNAH5c.9355A>G (p.Lys3119Glu)
c.9310A>G (p.Lys3104Glu)
c.9463A>G (p.Lys3155Glu)
c.8368A>G (p.Lys2790Glu)
c.4552A>G (p.Lys1518Glu)
c.4105A>G (p.Lys1369Glu)
c.3442A>G (p.Lys1148Glu)
c.7957A>G (p.Lys2653Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13776457T>GCA359207923DNAH5c.9355A>C (p.Lys3119Gln)
c.9310A>C (p.Lys3104Gln)
c.9463A>C (p.Lys3155Gln)
c.8368A>C (p.Lys2790Gln)
c.4552A>C (p.Lys1518Gln)
c.4105A>C (p.Lys1369Gln)
c.3442A>C (p.Lys1148Gln)
c.7957A>C (p.Lys2653Gln)
5g.13776457T=CA1528435035DNAH5c.9355A= (p.Lys3119=)
c.9310A= (p.Lys3104=)
c.9463A= (p.Lys3155=)
c.8368A= (p.Lys2790=)
c.4552A= (p.Lys1518=)
c.4105A= (p.Lys1369=)
c.3442A= (p.Lys1148=)
c.7957A= (p.Lys2653=)
5g.13776458G>ACA443535664DNAH5c.9354C>T (p.Pro3118=)
c.9309C>T (p.Pro3103=)
c.9462C>T (p.Pro3154=)
c.8367C>T (p.Pro2789=)
c.4551C>T (p.Pro1517=)
c.4104C>T (p.Pro1368=)
c.3441C>T (p.Pro1147=)
c.7956C>T (p.Pro2652=)
5g.13776458G>CCA443535666DNAH5c.9354C>G (p.Pro3118=)
c.9309C>G (p.Pro3103=)
c.9462C>G (p.Pro3154=)
c.8367C>G (p.Pro2789=)
c.4551C>G (p.Pro1517=)
c.4104C>G (p.Pro1368=)
c.3441C>G (p.Pro1147=)
c.7956C>G (p.Pro2652=)
5g.13776458G>TCA443535667DNAH5c.9354C>A (p.Pro3118=)
c.9309C>A (p.Pro3103=)
c.9462C>A (p.Pro3154=)
c.8367C>A (p.Pro2789=)
c.4551C>A (p.Pro1517=)
c.4104C>A (p.Pro1368=)
c.3441C>A (p.Pro1147=)
c.7956C>A (p.Pro2652=)
5g.13776460dupCA2739274613DNAH5c.9354dup (p.Lys3119GlnfsTer9)
c.9309dup (p.Lys3104GlnfsTer9)
c.9462dup (p.Lys3155GlnfsTer9)
c.8367dup (p.Lys2790GlnfsTer9)
c.4551dup (p.Lys1518GlnfsTer9)
c.4104dup (p.Lys1369GlnfsTer9)
c.3441dup (p.Lys1148GlnfsTer9)
c.7956dup (p.Lys2653GlnfsTer9)
 ClinVar
5g.13776459G>ACA359207928DNAH5c.9353C>T (p.Pro3118Leu)
c.9308C>T (p.Pro3103Leu)
c.9461C>T (p.Pro3154Leu)
c.8366C>T (p.Pro2789Leu)
c.4550C>T (p.Pro1517Leu)
c.4103C>T (p.Pro1368Leu)
c.3440C>T (p.Pro1147Leu)
c.7955C>T (p.Pro2652Leu)
 COSMIC
5g.13776459G>CCA359207929DNAH5c.9353C>G (p.Pro3118Arg)
c.9308C>G (p.Pro3103Arg)
c.9461C>G (p.Pro3154Arg)
c.8366C>G (p.Pro2789Arg)
c.4550C>G (p.Pro1517Arg)
c.4103C>G (p.Pro1368Arg)
c.3440C>G (p.Pro1147Arg)
c.7955C>G (p.Pro2652Arg)
5g.13776459G>TCA359207930DNAH5c.9353C>A (p.Pro3118His)
c.9308C>A (p.Pro3103His)
c.9461C>A (p.Pro3154His)
c.8366C>A (p.Pro2789His)
c.4550C>A (p.Pro1517His)
c.4103C>A (p.Pro1368His)
c.3440C>A (p.Pro1147His)
c.7955C>A (p.Pro2652His)
 gnomAD v4
5g.13776460G>ACA359207932DNAH5c.9352C>T (p.Pro3118Ser)
c.9307C>T (p.Pro3103Ser)
c.9460C>T (p.Pro3154Ser)
c.8365C>T (p.Pro2789Ser)
c.4549C>T (p.Pro1517Ser)
c.4102C>T (p.Pro1368Ser)
c.3439C>T (p.Pro1147Ser)
c.7954C>T (p.Pro2652Ser)
 gnomAD v4
5g.13776460G>CCA359207933DNAH5c.9352C>G (p.Pro3118Ala)
c.9307C>G (p.Pro3103Ala)
c.9460C>G (p.Pro3154Ala)
c.8365C>G (p.Pro2789Ala)
c.4549C>G (p.Pro1517Ala)
c.4102C>G (p.Pro1368Ala)
c.3439C>G (p.Pro1147Ala)
c.7954C>G (p.Pro2652Ala)
5g.13776460G>TCA359207931DNAH5c.9352C>A (p.Pro3118Thr)
c.9307C>A (p.Pro3103Thr)
c.9460C>A (p.Pro3154Thr)
c.8365C>A (p.Pro2789Thr)
c.4549C>A (p.Pro1517Thr)
c.4102C>A (p.Pro1368Thr)
c.3439C>A (p.Pro1147Thr)
c.7954C>A (p.Pro2652Thr)
5g.13776461C>ACA359207934DNAH5c.9351G>T (p.Trp3117Cys)
c.9306G>T (p.Trp3102Cys)
c.9459G>T (p.Trp3153Cys)
c.8364G>T (p.Trp2788Cys)
c.4548G>T (p.Trp1516Cys)
c.4101G>T (p.Trp1367Cys)
c.3438G>T (p.Trp1146Cys)
c.7953G>T (p.Trp2651Cys)
5g.13776461C>GCA359207936DNAH5c.9351G>C (p.Trp3117Cys)
c.9306G>C (p.Trp3102Cys)
c.9459G>C (p.Trp3153Cys)
c.8364G>C (p.Trp2788Cys)
c.4548G>C (p.Trp1516Cys)
c.4101G>C (p.Trp1367Cys)
c.3438G>C (p.Trp1146Cys)
c.7953G>C (p.Trp2651Cys)
5g.13776461C>TCA359207940DNAH5c.9351G>A (p.Trp3117Ter)
c.9306G>A (p.Trp3102Ter)
c.9459G>A (p.Trp3153Ter)
c.8364G>A (p.Trp2788Ter)
c.4548G>A (p.Trp1516Ter)
c.4101G>A (p.Trp1367Ter)
c.3438G>A (p.Trp1146Ter)
c.7953G>A (p.Trp2651Ter)
 gnomAD v4
5g.13776462C>ACA359207943DNAH5c.9350G>T (p.Trp3117Leu)
c.9305G>T (p.Trp3102Leu)
c.9458G>T (p.Trp3153Leu)
c.8363G>T (p.Trp2788Leu)
c.4547G>T (p.Trp1516Leu)
c.4100G>T (p.Trp1367Leu)
c.3437G>T (p.Trp1146Leu)
c.7952G>T (p.Trp2651Leu)
5g.13776462C>GCA359207946DNAH5c.9350G>C (p.Trp3117Ser)
c.9305G>C (p.Trp3102Ser)
c.9458G>C (p.Trp3153Ser)
c.8363G>C (p.Trp2788Ser)
c.4547G>C (p.Trp1516Ser)
c.4100G>C (p.Trp1367Ser)
c.3437G>C (p.Trp1146Ser)
c.7952G>C (p.Trp2651Ser)
5g.13776462C>TCA359207950DNAH5c.9350G>A (p.Trp3117Ter)
c.9305G>A (p.Trp3102Ter)
c.9458G>A (p.Trp3153Ter)
c.8363G>A (p.Trp2788Ter)
c.4547G>A (p.Trp1516Ter)
c.4100G>A (p.Trp1367Ter)
c.3437G>A (p.Trp1146Ter)
c.7952G>A (p.Trp2651Ter)
5g.13776463A=CA1528435042DNAH5c.9349T= (p.Trp3117=)
c.9304T= (p.Trp3102=)
c.9457T= (p.Trp3153=)
c.8362T= (p.Trp2788=)
c.4546T= (p.Trp1516=)
c.4099T= (p.Trp1367=)
c.3436T= (p.Trp1146=)
c.7951T= (p.Trp2651=)
5g.13776463A>CCA359207952DNAH5c.9349T>G (p.Trp3117Gly)
c.9304T>G (p.Trp3102Gly)
c.9457T>G (p.Trp3153Gly)
c.8362T>G (p.Trp2788Gly)
c.4546T>G (p.Trp1516Gly)
c.4099T>G (p.Trp1367Gly)
c.3436T>G (p.Trp1146Gly)
c.7951T>G (p.Trp2651Gly)
5g.13776463A>GCA3202577DNAH5c.9349T>C (p.Trp3117Arg)
c.9304T>C (p.Trp3102Arg)
c.9457T>C (p.Trp3153Arg)
c.8362T>C (p.Trp2788Arg)
c.4546T>C (p.Trp1516Arg)
c.4099T>C (p.Trp1367Arg)
c.3436T>C (p.Trp1146Arg)
c.7951T>C (p.Trp2651Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13776463A>TCA359207954DNAH5c.9349T>A (p.Trp3117Arg)
c.9304T>A (p.Trp3102Arg)
c.9457T>A (p.Trp3153Arg)
c.8362T>A (p.Trp2788Arg)
c.4546T>A (p.Trp1516Arg)
c.4099T>A (p.Trp1367Arg)
c.3436T>A (p.Trp1146Arg)
c.7951T>A (p.Trp2651Arg)
5g.13776464T>ACA443535675DNAH5c.9348A>T (p.Arg3116=)
c.9303A>T (p.Arg3101=)
c.9456A>T (p.Arg3152=)
c.8361A>T (p.Arg2787=)
c.4545A>T (p.Arg1515=)
c.4098A>T (p.Arg1366=)
c.3435A>T (p.Arg1145=)
c.7950A>T (p.Arg2650=)
5g.13776464T>CCA443535677DNAH5c.9348A>G (p.Arg3116=)
c.9303A>G (p.Arg3101=)
c.9456A>G (p.Arg3152=)
c.8361A>G (p.Arg2787=)
c.4545A>G (p.Arg1515=)
c.4098A>G (p.Arg1366=)
c.3435A>G (p.Arg1145=)
c.7950A>G (p.Arg2650=)
5g.13776464T>GCA443535676DNAH5c.9348A>C (p.Arg3116=)
c.9303A>C (p.Arg3101=)
c.9456A>C (p.Arg3152=)
c.8361A>C (p.Arg2787=)
c.4545A>C (p.Arg1515=)
c.4098A>C (p.Arg1366=)
c.3435A>C (p.Arg1145=)
c.7950A>C (p.Arg2650=)
5g.13776465C>ACA359207957DNAH5c.9347G>T (p.Arg3116Leu)
c.9302G>T (p.Arg3101Leu)
c.9455G>T (p.Arg3152Leu)
c.8360G>T (p.Arg2787Leu)
c.4544G>T (p.Arg1515Leu)
c.4097G>T (p.Arg1366Leu)
c.3434G>T (p.Arg1145Leu)
c.7949G>T (p.Arg2650Leu)
 gnomAD v4
5g.13776465C=CA1528435050DNAH5c.9347G= (p.Arg3116=)
c.9302G= (p.Arg3101=)
c.9455G= (p.Arg3152=)
c.8360G= (p.Arg2787=)
c.4544G= (p.Arg1515=)
c.4097G= (p.Arg1366=)
c.3434G= (p.Arg1145=)
c.7949G= (p.Arg2650=)
5g.13776465C>GCA359207959DNAH5c.9347G>C (p.Arg3116Pro)
c.9302G>C (p.Arg3101Pro)
c.9455G>C (p.Arg3152Pro)
c.8360G>C (p.Arg2787Pro)
c.4544G>C (p.Arg1515Pro)
c.4097G>C (p.Arg1366Pro)
c.3434G>C (p.Arg1145Pro)
c.7949G>C (p.Arg2650Pro)
5g.13776465C>TCA3202578DNAH5c.9347G>A (p.Arg3116Gln)
c.9302G>A (p.Arg3101Gln)
c.9455G>A (p.Arg3152Gln)
c.8360G>A (p.Arg2787Gln)
c.4544G>A (p.Arg1515Gln)
c.4097G>A (p.Arg1366Gln)
c.3434G>A (p.Arg1145Gln)
c.7949G>A (p.Arg2650Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13776466G>ACA359207968DNAH5c.9346C>T (p.Arg3116Ter)
c.9301C>T (p.Arg3101Ter)
c.9454C>T (p.Arg3152Ter)
c.8359C>T (p.Arg2787Ter)
c.4543C>T (p.Arg1515Ter)
c.4096C>T (p.Arg1366Ter)
c.3433C>T (p.Arg1145Ter)
c.7948C>T (p.Arg2650Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13776466G>CCA359207966DNAH5c.9346C>G (p.Arg3116Gly)
c.9301C>G (p.Arg3101Gly)
c.9454C>G (p.Arg3152Gly)
c.8359C>G (p.Arg2787Gly)
c.4543C>G (p.Arg1515Gly)
c.4096C>G (p.Arg1366Gly)
c.3433C>G (p.Arg1145Gly)
c.7948C>G (p.Arg2650Gly)
5g.13776466G=CA1528435057DNAH5c.9346C= (p.Arg3116=)
c.9301C= (p.Arg3101=)
c.9454C= (p.Arg3152=)
c.8359C= (p.Arg2787=)
c.4543C= (p.Arg1515=)
c.4096C= (p.Arg1366=)
c.3433C= (p.Arg1145=)
c.7948C= (p.Arg2650=)
5g.13776466G>TCA443535679DNAH5c.9346C>A (p.Arg3116=)
c.9301C>A (p.Arg3101=)
c.9454C>A (p.Arg3152=)
c.8359C>A (p.Arg2787=)
c.4543C>A (p.Arg1515=)
c.4096C>A (p.Arg1366=)
c.3433C>A (p.Arg1145=)
c.7948C>A (p.Arg2650=)
5g.13776467G>ACA443535681DNAH5c.9345C>T (p.Ser3115=)
c.9300C>T (p.Ser3100=)
c.9453C>T (p.Ser3151=)
c.8358C>T (p.Ser2786=)
c.4542C>T (p.Ser1514=)
c.4095C>T (p.Ser1365=)
c.3432C>T (p.Ser1144=)
c.7947C>T (p.Ser2649=)
 dbSNP
5g.13776467G>CCA359207971DNAH5c.9345C>G (p.Ser3115Arg)
c.9300C>G (p.Ser3100Arg)
c.9453C>G (p.Ser3151Arg)
c.8358C>G (p.Ser2786Arg)
c.4542C>G (p.Ser1514Arg)
c.4095C>G (p.Ser1365Arg)
c.3432C>G (p.Ser1144Arg)
c.7947C>G (p.Ser2649Arg)
5g.13776467G=CA1528435063DNAH5c.9345C= (p.Ser3115=)
c.9300C= (p.Ser3100=)
c.9453C= (p.Ser3151=)
c.8358C= (p.Ser2786=)
c.4542C= (p.Ser1514=)
c.4095C= (p.Ser1365=)
c.3432C= (p.Ser1144=)
c.7947C= (p.Ser2649=)
5g.13776467G>TCA359207973DNAH5c.9345C>A (p.Ser3115Arg)
c.9300C>A (p.Ser3100Arg)
c.9453C>A (p.Ser3151Arg)
c.8358C>A (p.Ser2786Arg)
c.4542C>A (p.Ser1514Arg)
c.4095C>A (p.Ser1365Arg)
c.3432C>A (p.Ser1144Arg)
c.7947C>A (p.Ser2649Arg)
5g.13776468C>ACA359207974DNAH5c.9344G>T (p.Ser3115Ile)
c.9299G>T (p.Ser3100Ile)
c.9452G>T (p.Ser3151Ile)
c.8357G>T (p.Ser2786Ile)
c.4541G>T (p.Ser1514Ile)
c.4094G>T (p.Ser1365Ile)
c.3431G>T (p.Ser1144Ile)
c.7946G>T (p.Ser2649Ile)
5g.13776468C>GCA359207975DNAH5c.9344G>C (p.Ser3115Thr)
c.9299G>C (p.Ser3100Thr)
c.9452G>C (p.Ser3151Thr)
c.8357G>C (p.Ser2786Thr)
c.4541G>C (p.Ser1514Thr)
c.4094G>C (p.Ser1365Thr)
c.3431G>C (p.Ser1144Thr)
c.7946G>C (p.Ser2649Thr)
5g.13776468C>TCA359207976DNAH5c.9344G>A (p.Ser3115Asn)
c.9299G>A (p.Ser3100Asn)
c.9452G>A (p.Ser3151Asn)
c.8357G>A (p.Ser2786Asn)
c.4541G>A (p.Ser1514Asn)
c.4094G>A (p.Ser1365Asn)
c.3431G>A (p.Ser1144Asn)
c.7946G>A (p.Ser2649Asn)
5g.13776469T>ACA359207978DNAH5c.9343A>T (p.Ser3115Cys)
c.9298A>T (p.Ser3100Cys)
c.9451A>T (p.Ser3151Cys)
c.8356A>T (p.Ser2786Cys)
c.4540A>T (p.Ser1514Cys)
c.4093A>T (p.Ser1365Cys)
c.3430A>T (p.Ser1144Cys)
c.7945A>T (p.Ser2649Cys)
5g.13776469T>CCA359207980DNAH5c.9343A>G (p.Ser3115Gly)
c.9298A>G (p.Ser3100Gly)
c.9451A>G (p.Ser3151Gly)
c.8356A>G (p.Ser2786Gly)
c.4540A>G (p.Ser1514Gly)
c.4093A>G (p.Ser1365Gly)
c.3430A>G (p.Ser1144Gly)
c.7945A>G (p.Ser2649Gly)
 COSMIC
5g.13776469T>GCA359207983DNAH5c.9343A>C (p.Ser3115Arg)
c.9298A>C (p.Ser3100Arg)
c.9451A>C (p.Ser3151Arg)
c.8356A>C (p.Ser2786Arg)
c.4540A>C (p.Ser1514Arg)
c.4093A>C (p.Ser1365Arg)
c.3430A>C (p.Ser1144Arg)
c.7945A>C (p.Ser2649Arg)
5g.13776470G>ACA443535684DNAH5c.9342C>T (p.Phe3114=)
c.9297C>T (p.Phe3099=)
c.9450C>T (p.Phe3150=)
c.8355C>T (p.Phe2785=)
c.4539C>T (p.Phe1513=)
c.4092C>T (p.Phe1364=)
c.3429C>T (p.Phe1143=)
c.7944C>T (p.Phe2648=)
 gnomAD v4 COSMIC
5g.13776470G>CCA359208013DNAH5c.9342C>G (p.Phe3114Leu)
c.9297C>G (p.Phe3099Leu)
c.9450C>G (p.Phe3150Leu)
c.8355C>G (p.Phe2785Leu)
c.4539C>G (p.Phe1513Leu)
c.4092C>G (p.Phe1364Leu)
c.3429C>G (p.Phe1143Leu)
c.7944C>G (p.Phe2648Leu)
5g.13776470G>TCA359208016DNAH5c.9342C>A (p.Phe3114Leu)
c.9297C>A (p.Phe3099Leu)
c.9450C>A (p.Phe3150Leu)
c.8355C>A (p.Phe2785Leu)
c.4539C>A (p.Phe1513Leu)
c.4092C>A (p.Phe1364Leu)
c.3429C>A (p.Phe1143Leu)
c.7944C>A (p.Phe2648Leu)
5g.13776471A>CCA359208025DNAH5c.9341T>G (p.Phe3114Cys)
c.9296T>G (p.Phe3099Cys)
c.9449T>G (p.Phe3150Cys)
c.8354T>G (p.Phe2785Cys)
c.4538T>G (p.Phe1513Cys)
c.4091T>G (p.Phe1364Cys)
c.3428T>G (p.Phe1143Cys)
c.7943T>G (p.Phe2648Cys)
5g.13776471A>GCA359208028DNAH5c.9341T>C (p.Phe3114Ser)
c.9296T>C (p.Phe3099Ser)
c.9449T>C (p.Phe3150Ser)
c.8354T>C (p.Phe2785Ser)
c.4538T>C (p.Phe1513Ser)
c.4091T>C (p.Phe1364Ser)
c.3428T>C (p.Phe1143Ser)
c.7943T>C (p.Phe2648Ser)
5g.13776471A>TCA359208032DNAH5c.9341T>A (p.Phe3114Tyr)
c.9296T>A (p.Phe3099Tyr)
c.9449T>A (p.Phe3150Tyr)
c.8354T>A (p.Phe2785Tyr)
c.4538T>A (p.Phe1513Tyr)
c.4091T>A (p.Phe1364Tyr)
c.3428T>A (p.Phe1143Tyr)
c.7943T>A (p.Phe2648Tyr)
5g.13776472A>CCA359208051DNAH5c.9340T>G (p.Phe3114Val)
c.9295T>G (p.Phe3099Val)
c.9448T>G (p.Phe3150Val)
c.8353T>G (p.Phe2785Val)
c.4537T>G (p.Phe1513Val)
c.4090T>G (p.Phe1364Val)
c.3427T>G (p.Phe1143Val)
c.7942T>G (p.Phe2648Val)
5g.13776472A>GCA359208057DNAH5c.9340T>C (p.Phe3114Leu)
c.9295T>C (p.Phe3099Leu)
c.9448T>C (p.Phe3150Leu)
c.8353T>C (p.Phe2785Leu)
c.4537T>C (p.Phe1513Leu)
c.4090T>C (p.Phe1364Leu)
c.3427T>C (p.Phe1143Leu)
c.7942T>C (p.Phe2648Leu)
5g.13776472A>TCA359208047DNAH5c.9340T>A (p.Phe3114Ile)
c.9295T>A (p.Phe3099Ile)
c.9448T>A (p.Phe3150Ile)
c.8353T>A (p.Phe2785Ile)
c.4537T>A (p.Phe1513Ile)
c.4090T>A (p.Phe1364Ile)
c.3427T>A (p.Phe1143Ile)
c.7942T>A (p.Phe2648Ile)
5g.13776473C>ACA359208064DNAH5c.9339G>T (p.Trp3113Cys)
c.9294G>T (p.Trp3098Cys)
c.9447G>T (p.Trp3149Cys)
c.8352G>T (p.Trp2784Cys)
c.4536G>T (p.Trp1512Cys)
c.4089G>T (p.Trp1363Cys)
c.3426G>T (p.Trp1142Cys)
c.7941G>T (p.Trp2647Cys)
5g.13776473C=CA1528435067DNAH5c.9339G= (p.Trp3113=)
c.9294G= (p.Trp3098=)
c.9447G= (p.Trp3149=)
c.8352G= (p.Trp2784=)
c.4536G= (p.Trp1512=)
c.4089G= (p.Trp1363=)
c.3426G= (p.Trp1142=)
c.7941G= (p.Trp2647=)
5g.13776473C>GCA3202579DNAH5c.9339G>C (p.Trp3113Cys)
c.9294G>C (p.Trp3098Cys)
c.9447G>C (p.Trp3149Cys)
c.8352G>C (p.Trp2784Cys)
c.4536G>C (p.Trp1512Cys)
c.4089G>C (p.Trp1363Cys)
c.3426G>C (p.Trp1142Cys)
c.7941G>C (p.Trp2647Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13776473C>TCA359208066DNAH5c.9339G>A (p.Trp3113Ter)
c.9294G>A (p.Trp3098Ter)
c.9447G>A (p.Trp3149Ter)
c.8352G>A (p.Trp2784Ter)
c.4536G>A (p.Trp1512Ter)
c.4089G>A (p.Trp1363Ter)
c.3426G>A (p.Trp1142Ter)
c.7941G>A (p.Trp2647Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13776474C>ACA359208070DNAH5c.9338G>T (p.Trp3113Leu)
c.9293G>T (p.Trp3098Leu)
c.9446G>T (p.Trp3149Leu)
c.8351G>T (p.Trp2784Leu)
c.4535G>T (p.Trp1512Leu)
c.4088G>T (p.Trp1363Leu)
c.3425G>T (p.Trp1142Leu)
c.7940G>T (p.Trp2647Leu)
5g.13776474C>GCA359208073DNAH5c.9338G>C (p.Trp3113Ser)
c.9293G>C (p.Trp3098Ser)
c.9446G>C (p.Trp3149Ser)
c.8351G>C (p.Trp2784Ser)
c.4535G>C (p.Trp1512Ser)
c.4088G>C (p.Trp1363Ser)
c.3425G>C (p.Trp1142Ser)
c.7940G>C (p.Trp2647Ser)
5g.13776474C>TCA359208077DNAH5c.9338G>A (p.Trp3113Ter)
c.9293G>A (p.Trp3098Ter)
c.9446G>A (p.Trp3149Ter)
c.8351G>A (p.Trp2784Ter)
c.4535G>A (p.Trp1512Ter)
c.4088G>A (p.Trp1363Ter)
c.3425G>A (p.Trp1142Ter)
c.7940G>A (p.Trp2647Ter)
5g.13776475A>CCA359208078DNAH5c.9337T>G (p.Trp3113Gly)
c.9292T>G (p.Trp3098Gly)
c.9445T>G (p.Trp3149Gly)
c.8350T>G (p.Trp2784Gly)
c.4534T>G (p.Trp1512Gly)
c.4087T>G (p.Trp1363Gly)
c.3424T>G (p.Trp1142Gly)
c.7939T>G (p.Trp2647Gly)
5g.13776475A>GCA359208082DNAH5c.9337T>C (p.Trp3113Arg)
c.9292T>C (p.Trp3098Arg)
c.9445T>C (p.Trp3149Arg)
c.8350T>C (p.Trp2784Arg)
c.4534T>C (p.Trp1512Arg)
c.4087T>C (p.Trp1363Arg)
c.3424T>C (p.Trp1142Arg)
c.7939T>C (p.Trp2647Arg)
5g.13776475A>TCA359208089DNAH5c.9337T>A (p.Trp3113Arg)
c.9292T>A (p.Trp3098Arg)
c.9445T>A (p.Trp3149Arg)
c.8350T>A (p.Trp2784Arg)
c.4534T>A (p.Trp1512Arg)
c.4087T>A (p.Trp1363Arg)
c.3424T>A (p.Trp1142Arg)
c.7939T>A (p.Trp2647Arg)
5g.13776476G>ACA443535695DNAH5c.9336C>T (p.Asp3112=)
c.9291C>T (p.Asp3097=)
c.9444C>T (p.Asp3148=)
c.8349C>T (p.Asp2783=)
c.4533C>T (p.Asp1511=)
c.4086C>T (p.Asp1362=)
c.3423C>T (p.Asp1141=)
c.7938C>T (p.Asp2646=)
5g.13776476G>CCA359208094DNAH5c.9336C>G (p.Asp3112Glu)
c.9291C>G (p.Asp3097Glu)
c.9444C>G (p.Asp3148Glu)
c.8349C>G (p.Asp2783Glu)
c.4533C>G (p.Asp1511Glu)
c.4086C>G (p.Asp1362Glu)
c.3423C>G (p.Asp1141Glu)
c.7938C>G (p.Asp2646Glu)
5g.13776476G>TCA359208095DNAH5c.9336C>A (p.Asp3112Glu)
c.9291C>A (p.Asp3097Glu)
c.9444C>A (p.Asp3148Glu)
c.8349C>A (p.Asp2783Glu)
c.4533C>A (p.Asp1511Glu)
c.4086C>A (p.Asp1362Glu)
c.3423C>A (p.Asp1141Glu)
c.7938C>A (p.Asp2646Glu)
5g.13776477T>ACA359208098DNAH5c.9335A>T (p.Asp3112Val)
c.9290A>T (p.Asp3097Val)
c.9443A>T (p.Asp3148Val)
c.8348A>T (p.Asp2783Val)
c.4532A>T (p.Asp1511Val)
c.4085A>T (p.Asp1362Val)
c.3422A>T (p.Asp1141Val)
c.7937A>T (p.Asp2646Val)
5g.13776477T>CCA359208100DNAH5c.9335A>G (p.Asp3112Gly)
c.9290A>G (p.Asp3097Gly)
c.9443A>G (p.Asp3148Gly)
c.8348A>G (p.Asp2783Gly)
c.4532A>G (p.Asp1511Gly)
c.4085A>G (p.Asp1362Gly)
c.3422A>G (p.Asp1141Gly)
c.7937A>G (p.Asp2646Gly)
5g.13776477T>GCA359208101DNAH5c.9335A>C (p.Asp3112Ala)
c.9290A>C (p.Asp3097Ala)
c.9443A>C (p.Asp3148Ala)
c.8348A>C (p.Asp2783Ala)
c.4532A>C (p.Asp1511Ala)
c.4085A>C (p.Asp1362Ala)
c.3422A>C (p.Asp1141Ala)
c.7937A>C (p.Asp2646Ala)
5g.13776478C>ACA359208108DNAH5c.9334G>T (p.Asp3112Tyr)
c.9289G>T (p.Asp3097Tyr)
c.9442G>T (p.Asp3148Tyr)
c.8347G>T (p.Asp2783Tyr)
c.4531G>T (p.Asp1511Tyr)
c.4084G>T (p.Asp1362Tyr)
c.3421G>T (p.Asp1141Tyr)
c.7936G>T (p.Asp2646Tyr)
 gnomAD v4
5g.13776478C>GCA359208105DNAH5c.9334G>C (p.Asp3112His)
c.9289G>C (p.Asp3097His)
c.9442G>C (p.Asp3148His)
c.8347G>C (p.Asp2783His)
c.4531G>C (p.Asp1511His)
c.4084G>C (p.Asp1362His)
c.3421G>C (p.Asp1141His)
c.7936G>C (p.Asp2646His)
 gnomAD v4
5g.13776478C>TCA359208103DNAH5c.9334G>A (p.Asp3112Asn)
c.9289G>A (p.Asp3097Asn)
c.9442G>A (p.Asp3148Asn)
c.8347G>A (p.Asp2783Asn)
c.4531G>A (p.Asp1511Asn)
c.4084G>A (p.Asp1362Asn)
c.3421G>A (p.Asp1141Asn)
c.7936G>A (p.Asp2646Asn)
5g.13776479A>CCA359208111DNAH5c.9333T>G (p.Ile3111Met)
c.9288T>G (p.Ile3096Met)
c.9441T>G (p.Ile3147Met)
c.8346T>G (p.Ile2782Met)
c.4530T>G (p.Ile1510Met)
c.4083T>G (p.Ile1361Met)
c.3420T>G (p.Ile1140Met)
c.7935T>G (p.Ile2645Met)
5g.13776479A>GCA443535698DNAH5c.9333T>C (p.Ile3111=)
c.9288T>C (p.Ile3096=)
c.9441T>C (p.Ile3147=)
c.8346T>C (p.Ile2782=)
c.4530T>C (p.Ile1510=)
c.4083T>C (p.Ile1361=)
c.3420T>C (p.Ile1140=)
c.7935T>C (p.Ile2645=)
5g.13776479A>TCA443535699DNAH5c.9333T>A (p.Ile3111=)
c.9288T>A (p.Ile3096=)
c.9441T>A (p.Ile3147=)
c.8346T>A (p.Ile2782=)
c.4530T>A (p.Ile1510=)
c.4083T>A (p.Ile1361=)
c.3420T>A (p.Ile1140=)
c.7935T>A (p.Ile2645=)
5g.13776480A=CA1528435071DNAH5c.9332T= (p.Ile3111=)
c.9287T= (p.Ile3096=)
c.9440T= (p.Ile3147=)
c.8345T= (p.Ile2782=)
c.4529T= (p.Ile1510=)
c.4082T= (p.Ile1361=)
c.3419T= (p.Ile1140=)
c.7934T= (p.Ile2645=)
5g.13776480A>CCA359208117DNAH5c.9332T>G (p.Ile3111Ser)
c.9287T>G (p.Ile3096Ser)
c.9440T>G (p.Ile3147Ser)
c.8345T>G (p.Ile2782Ser)
c.4529T>G (p.Ile1510Ser)
c.4082T>G (p.Ile1361Ser)
c.3419T>G (p.Ile1140Ser)
c.7934T>G (p.Ile2645Ser)
5g.13776480A>GCA3202580DNAH5c.9332T>C (p.Ile3111Thr)
c.9287T>C (p.Ile3096Thr)
c.9440T>C (p.Ile3147Thr)
c.8345T>C (p.Ile2782Thr)
c.4529T>C (p.Ile1510Thr)
c.4082T>C (p.Ile1361Thr)
c.3419T>C (p.Ile1140Thr)
c.7934T>C (p.Ile2645Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.13776480A>TCA359208129DNAH5c.9332T>A (p.Ile3111Asn)
c.9287T>A (p.Ile3096Asn)
c.9440T>A (p.Ile3147Asn)
c.8345T>A (p.Ile2782Asn)
c.4529T>A (p.Ile1510Asn)
c.4082T>A (p.Ile1361Asn)
c.3419T>A (p.Ile1140Asn)
c.7934T>A (p.Ile2645Asn)
5g.13776481T>ACA359208130DNAH5c.9331A>T (p.Ile3111Phe)
c.9286A>T (p.Ile3096Phe)
c.9439A>T (p.Ile3147Phe)
c.8344A>T (p.Ile2782Phe)
c.4528A>T (p.Ile1510Phe)
c.4081A>T (p.Ile1361Phe)
c.3418A>T (p.Ile1140Phe)
c.7933A>T (p.Ile2645Phe)
5g.13776481T>CCA359208131DNAH5c.9331A>G (p.Ile3111Val)
c.9286A>G (p.Ile3096Val)
c.9439A>G (p.Ile3147Val)
c.8344A>G (p.Ile2782Val)
c.4528A>G (p.Ile1510Val)
c.4081A>G (p.Ile1361Val)
c.3418A>G (p.Ile1140Val)
c.7933A>G (p.Ile2645Val)
 dbSNP gnomAD v2 gnomAD v4
5g.13776481T>GCA359208132DNAH5c.9331A>C (p.Ile3111Leu)
c.9286A>C (p.Ile3096Leu)
c.9439A>C (p.Ile3147Leu)
c.8344A>C (p.Ile2782Leu)
c.4528A>C (p.Ile1510Leu)
c.4081A>C (p.Ile1361Leu)
c.3418A>C (p.Ile1140Leu)
c.7933A>C (p.Ile2645Leu)
5g.13776481T=CA1528435077DNAH5c.9331A= (p.Ile3111=)
c.9286A= (p.Ile3096=)
c.9439A= (p.Ile3147=)
c.8344A= (p.Ile2782=)
c.4528A= (p.Ile1510=)
c.4081A= (p.Ile1361=)
c.3418A= (p.Ile1140=)
c.7933A= (p.Ile2645=)
5g.13776482T>ACA443535704DNAH5c.9330A>T (p.Thr3110=)
c.9285A>T (p.Thr3095=)
c.9438A>T (p.Thr3146=)
c.8343A>T (p.Thr2781=)
c.4527A>T (p.Thr1509=)
c.4080A>T (p.Thr1360=)
c.3417A>T (p.Thr1139=)
c.7932A>T (p.Thr2644=)
 ClinVar
5g.13776482T>CCA443535705DNAH5c.9330A>G (p.Thr3110=)
c.9285A>G (p.Thr3095=)
c.9438A>G (p.Thr3146=)
c.8343A>G (p.Thr2781=)
c.4527A>G (p.Thr1509=)
c.4080A>G (p.Thr1360=)
c.3417A>G (p.Thr1139=)
c.7932A>G (p.Thr2644=)
5g.13776482T>GCA443535706DNAH5c.9330A>C (p.Thr3110=)
c.9285A>C (p.Thr3095=)
c.9438A>C (p.Thr3146=)
c.8343A>C (p.Thr2781=)
c.4527A>C (p.Thr1509=)
c.4080A>C (p.Thr1360=)
c.3417A>C (p.Thr1139=)
c.7932A>C (p.Thr2644=)
5g.13776483G>ACA359208133DNAH5c.9329C>T (p.Thr3110Ile)
c.9284C>T (p.Thr3095Ile)
c.9437C>T (p.Thr3146Ile)
c.8342C>T (p.Thr2781Ile)
c.4526C>T (p.Thr1509Ile)
c.4079C>T (p.Thr1360Ile)
c.3416C>T (p.Thr1139Ile)
c.7931C>T (p.Thr2644Ile)
5g.13776483G>CCA359208135DNAH5c.9329C>G (p.Thr3110Arg)
c.9284C>G (p.Thr3095Arg)
c.9437C>G (p.Thr3146Arg)
c.8342C>G (p.Thr2781Arg)
c.4526C>G (p.Thr1509Arg)
c.4079C>G (p.Thr1360Arg)
c.3416C>G (p.Thr1139Arg)
c.7931C>G (p.Thr2644Arg)
5g.13776483G>TCA359208138DNAH5c.9329C>A (p.Thr3110Lys)
c.9284C>A (p.Thr3095Lys)
c.9437C>A (p.Thr3146Lys)
c.8342C>A (p.Thr2781Lys)
c.4526C>A (p.Thr1509Lys)
c.4079C>A (p.Thr1360Lys)
c.3416C>A (p.Thr1139Lys)
c.7931C>A (p.Thr2644Lys)
5g.13776484T>ACA359208141DNAH5c.9328A>T (p.Thr3110Ser)
c.9283A>T (p.Thr3095Ser)
c.9436A>T (p.Thr3146Ser)
c.8341A>T (p.Thr2781Ser)
c.4525A>T (p.Thr1509Ser)
c.4078A>T (p.Thr1360Ser)
c.3415A>T (p.Thr1139Ser)
c.7930A>T (p.Thr2644Ser)
5g.13776484T>CCA359208145DNAH5c.9328A>G (p.Thr3110Ala)
c.9283A>G (p.Thr3095Ala)
c.9436A>G (p.Thr3146Ala)
c.8341A>G (p.Thr2781Ala)
c.4525A>G (p.Thr1509Ala)
c.4078A>G (p.Thr1360Ala)
c.3415A>G (p.Thr1139Ala)
c.7930A>G (p.Thr2644Ala)
 gnomAD v4
5g.13776484T>GCA359208148DNAH5c.9328A>C (p.Thr3110Pro)
c.9283A>C (p.Thr3095Pro)
c.9436A>C (p.Thr3146Pro)
c.8341A>C (p.Thr2781Pro)
c.4525A>C (p.Thr1509Pro)
c.4078A>C (p.Thr1360Pro)
c.3415A>C (p.Thr1139Pro)
c.7930A>C (p.Thr2644Pro)
5g.13776485G>ACA443535708DNAH5c.9327C>T (p.Cys3109=)
c.9282C>T (p.Cys3094=)
c.9435C>T (p.Cys3145=)
c.8340C>T (p.Cys2780=)
c.4524C>T (p.Cys1508=)
c.4077C>T (p.Cys1359=)
c.3414C>T (p.Cys1138=)
c.7929C>T (p.Cys2643=)
5g.13776485G>CCA359208155DNAH5c.9327C>G (p.Cys3109Trp)
c.9282C>G (p.Cys3094Trp)
c.9435C>G (p.Cys3145Trp)
c.8340C>G (p.Cys2780Trp)
c.4524C>G (p.Cys1508Trp)
c.4077C>G (p.Cys1359Trp)
c.3414C>G (p.Cys1138Trp)
c.7929C>G (p.Cys2643Trp)
5g.13776485G>TCA359208152DNAH5c.9327C>A (p.Cys3109Ter)
c.9282C>A (p.Cys3094Ter)
c.9435C>A (p.Cys3145Ter)
c.8340C>A (p.Cys2780Ter)
c.4524C>A (p.Cys1508Ter)
c.4077C>A (p.Cys1359Ter)
c.3414C>A (p.Cys1138Ter)
c.7929C>A (p.Cys2643Ter)
5g.13776486C>ACA359208158DNAH5c.9326G>T (p.Cys3109Phe)
c.9281G>T (p.Cys3094Phe)
c.9434G>T (p.Cys3145Phe)
c.8339G>T (p.Cys2780Phe)
c.4523G>T (p.Cys1508Phe)
c.4076G>T (p.Cys1359Phe)
c.3413G>T (p.Cys1138Phe)
c.7928G>T (p.Cys2643Phe)
5g.13776486C>GCA359208161DNAH5c.9326G>C (p.Cys3109Ser)
c.9281G>C (p.Cys3094Ser)
c.9434G>C (p.Cys3145Ser)
c.8339G>C (p.Cys2780Ser)
c.4523G>C (p.Cys1508Ser)
c.4076G>C (p.Cys1359Ser)
c.3413G>C (p.Cys1138Ser)
c.7928G>C (p.Cys2643Ser)
5g.13776486C>TCA359208163DNAH5c.9326G>A (p.Cys3109Tyr)
c.9281G>A (p.Cys3094Tyr)
c.9434G>A (p.Cys3145Tyr)
c.8339G>A (p.Cys2780Tyr)
c.4523G>A (p.Cys1508Tyr)
c.4076G>A (p.Cys1359Tyr)
c.3413G>A (p.Cys1138Tyr)
c.7928G>A (p.Cys2643Tyr)
5g.13776487A>CCA359208166DNAH5c.9325T>G (p.Cys3109Gly)
c.9280T>G (p.Cys3094Gly)
c.9433T>G (p.Cys3145Gly)
c.8338T>G (p.Cys2780Gly)
c.4522T>G (p.Cys1508Gly)
c.4075T>G (p.Cys1359Gly)
c.3412T>G (p.Cys1138Gly)
c.7927T>G (p.Cys2643Gly)
5g.13776487A>GCA359208170DNAH5c.9325T>C (p.Cys3109Arg)
c.9280T>C (p.Cys3094Arg)
c.9433T>C (p.Cys3145Arg)
c.8338T>C (p.Cys2780Arg)
c.4522T>C (p.Cys1508Arg)
c.4075T>C (p.Cys1359Arg)
c.3412T>C (p.Cys1138Arg)
c.7927T>C (p.Cys2643Arg)
5g.13776487A>TCA359208175DNAH5c.9325T>A (p.Cys3109Ser)
c.9280T>A (p.Cys3094Ser)
c.9433T>A (p.Cys3145Ser)
c.8338T>A (p.Cys2780Ser)
c.4522T>A (p.Cys1508Ser)
c.4075T>A (p.Cys1359Ser)
c.3412T>A (p.Cys1138Ser)
c.7927T>A (p.Cys2643Ser)
5g.13776488T>ACA443535717DNAH5c.9324A>T (p.Gly3108=)
c.9279A>T (p.Gly3093=)
c.9432A>T (p.Gly3144=)
c.8337A>T (p.Gly2779=)
c.4521A>T (p.Gly1507=)
c.4074A>T (p.Gly1358=)
c.3411A>T (p.Gly1137=)
c.7926A>T (p.Gly2642=)
 gnomAD v4
5g.13776488T>CCA443535714DNAH5c.9324A>G (p.Gly3108=)
c.9279A>G (p.Gly3093=)
c.9432A>G (p.Gly3144=)
c.8337A>G (p.Gly2779=)
c.4521A>G (p.Gly1507=)
c.4074A>G (p.Gly1358=)
c.3411A>G (p.Gly1137=)
c.7926A>G (p.Gly2642=)
5g.13776488T>GCA443535712DNAH5c.9324A>C (p.Gly3108=)
c.9279A>C (p.Gly3093=)
c.9432A>C (p.Gly3144=)
c.8337A>C (p.Gly2779=)
c.4521A>C (p.Gly1507=)
c.4074A>C (p.Gly1358=)
c.3411A>C (p.Gly1137=)
c.7926A>C (p.Gly2642=)
5g.13776489C>ACA359208179DNAH5c.9323G>T (p.Gly3108Val)
c.9278G>T (p.Gly3093Val)
c.9431G>T (p.Gly3144Val)
c.8336G>T (p.Gly2779Val)
c.4520G>T (p.Gly1507Val)
c.4073G>T (p.Gly1358Val)
c.3410G>T (p.Gly1137Val)
c.7925G>T (p.Gly2642Val)
5g.13776489C=CA1528435080DNAH5c.9323G= (p.Gly3108=)
c.9278G= (p.Gly3093=)
c.9431G= (p.Gly3144=)
c.8336G= (p.Gly2779=)
c.4520G= (p.Gly1507=)
c.4073G= (p.Gly1358=)
c.3410G= (p.Gly1137=)
c.7925G= (p.Gly2642=)
5g.13776489C>GCA359208183DNAH5c.9323G>C (p.Gly3108Ala)
c.9278G>C (p.Gly3093Ala)
c.9431G>C (p.Gly3144Ala)
c.8336G>C (p.Gly2779Ala)
c.4520G>C (p.Gly1507Ala)
c.4073G>C (p.Gly1358Ala)
c.3410G>C (p.Gly1137Ala)
c.7925G>C (p.Gly2642Ala)
 COSMIC
5g.13776489C>TCA113937631DNAH5c.9323G>A (p.Gly3108Glu)
c.9278G>A (p.Gly3093Glu)
c.9431G>A (p.Gly3144Glu)
c.8336G>A (p.Gly2779Glu)
c.4520G>A (p.Gly1507Glu)
c.4073G>A (p.Gly1358Glu)
c.3410G>A (p.Gly1137Glu)
c.7925G>A (p.Gly2642Glu)
 dbSNP COSMIC
5g.13776490C>ACA359208187DNAH5c.9322G>T (p.Gly3108Ter)
c.9277G>T (p.Gly3093Ter)
c.9430G>T (p.Gly3144Ter)
c.8335G>T (p.Gly2779Ter)
c.4519G>T (p.Gly1507Ter)
c.4072G>T (p.Gly1358Ter)
c.3409G>T (p.Gly1137Ter)
c.7924G>T (p.Gly2642Ter)
5g.13776490C=CA1528435082DNAH5c.9322G= (p.Gly3108=)
c.9277G= (p.Gly3093=)
c.9430G= (p.Gly3144=)
c.8335G= (p.Gly2779=)
c.4519G= (p.Gly1507=)
c.4072G= (p.Gly1358=)
c.3409G= (p.Gly1137=)
c.7924G= (p.Gly2642=)
5g.13776490C>GCA3202581DNAH5c.9322G>C (p.Gly3108Arg)
c.9277G>C (p.Gly3093Arg)
c.9430G>C (p.Gly3144Arg)
c.8335G>C (p.Gly2779Arg)
c.4519G>C (p.Gly1507Arg)
c.4072G>C (p.Gly1358Arg)
c.3409G>C (p.Gly1137Arg)
c.7924G>C (p.Gly2642Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13776490C>TCA359208188DNAH5c.9322G>A (p.Gly3108Arg)
c.9277G>A (p.Gly3093Arg)
c.9430G>A (p.Gly3144Arg)
c.8335G>A (p.Gly2779Arg)
c.4519G>A (p.Gly1507Arg)
c.4072G>A (p.Gly1358Arg)
c.3409G>A (p.Gly1137Arg)
c.7924G>A (p.Gly2642Arg)
 COSMIC
5g.13776491T>ACA443535725DNAH5c.9321A>T (p.Ser3107=)
c.9276A>T (p.Ser3092=)
c.9429A>T (p.Ser3143=)
c.8334A>T (p.Ser2778=)
c.4518A>T (p.Ser1506=)
c.4071A>T (p.Ser1357=)
c.3408A>T (p.Ser1136=)
c.7923A>T (p.Ser2641=)
5g.13776491T>CCA3202582DNAH5c.9321A>G (p.Ser3107=)
c.9276A>G (p.Ser3092=)
c.9429A>G (p.Ser3143=)
c.8334A>G (p.Ser2778=)
c.4518A>G (p.Ser1506=)
c.4071A>G (p.Ser1357=)
c.3408A>G (p.Ser1136=)
c.7923A>G (p.Ser2641=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13776491T>GCA443535729DNAH5c.9321A>C (p.Ser3107=)
c.9276A>C (p.Ser3092=)
c.9429A>C (p.Ser3143=)
c.8334A>C (p.Ser2778=)
c.4518A>C (p.Ser1506=)
c.4071A>C (p.Ser1357=)
c.3408A>C (p.Ser1136=)
c.7923A>C (p.Ser2641=)
5g.13776491T=CA1528435086DNAH5c.9321A= (p.Ser3107=)
c.9276A= (p.Ser3092=)
c.9429A= (p.Ser3143=)
c.8334A= (p.Ser2778=)
c.4518A= (p.Ser1506=)
c.4071A= (p.Ser1357=)
c.3408A= (p.Ser1136=)
c.7923A= (p.Ser2641=)
5g.13776492G>ACA359208200DNAH5c.9320C>T (p.Ser3107Leu)
c.9275C>T (p.Ser3092Leu)
c.9428C>T (p.Ser3143Leu)
c.8333C>T (p.Ser2778Leu)
c.4517C>T (p.Ser1506Leu)
c.4070C>T (p.Ser1357Leu)
c.3407C>T (p.Ser1136Leu)
c.7922C>T (p.Ser2641Leu)
5g.13776492G>CCA359208193DNAH5c.9320C>G (p.Ser3107Ter)
c.9275C>G (p.Ser3092Ter)
c.9428C>G (p.Ser3143Ter)
c.8333C>G (p.Ser2778Ter)
c.4517C>G (p.Ser1506Ter)
c.4070C>G (p.Ser1357Ter)
c.3407C>G (p.Ser1136Ter)
c.7922C>G (p.Ser2641Ter)
5g.13776492G>TCA359208197DNAH5c.9320C>A (p.Ser3107Ter)
c.9275C>A (p.Ser3092Ter)
c.9428C>A (p.Ser3143Ter)
c.8333C>A (p.Ser2778Ter)
c.4517C>A (p.Ser1506Ter)
c.4070C>A (p.Ser1357Ter)
c.3407C>A (p.Ser1136Ter)
c.7922C>A (p.Ser2641Ter)
5g.13776493A>CCA359208203DNAH5c.9319T>G (p.Ser3107Ala)
c.9274T>G (p.Ser3092Ala)
c.9427T>G (p.Ser3143Ala)
c.8332T>G (p.Ser2778Ala)
c.4516T>G (p.Ser1506Ala)
c.4069T>G (p.Ser1357Ala)
c.3406T>G (p.Ser1136Ala)
c.7921T>G (p.Ser2641Ala)
5g.13776493A>GCA359208204DNAH5c.9319T>C (p.Ser3107Pro)
c.9274T>C (p.Ser3092Pro)
c.9427T>C (p.Ser3143Pro)
c.8332T>C (p.Ser2778Pro)
c.4516T>C (p.Ser1506Pro)
c.4069T>C (p.Ser1357Pro)
c.3406T>C (p.Ser1136Pro)
c.7921T>C (p.Ser2641Pro)
5g.13776493A>TCA359208205DNAH5c.9319T>A (p.Ser3107Thr)
c.9274T>A (p.Ser3092Thr)
c.9427T>A (p.Ser3143Thr)
c.8332T>A (p.Ser2778Thr)
c.4516T>A (p.Ser1506Thr)
c.4069T>A (p.Ser1357Thr)
c.3406T>A (p.Ser1136Thr)
c.7921T>A (p.Ser2641Thr)
5g.13776494A>CCA359208206DNAH5c.9318T>G (p.Ile3106Met)
c.9273T>G (p.Ile3091Met)
c.9426T>G (p.Ile3142Met)
c.8331T>G (p.Ile2777Met)
c.4515T>G (p.Ile1505Met)
c.4068T>G (p.Ile1356Met)
c.3405T>G (p.Ile1135Met)
c.7920T>G (p.Ile2640Met)
5g.13776494A>GCA443535739DNAH5c.9318T>C (p.Ile3106=)
c.9273T>C (p.Ile3091=)
c.9426T>C (p.Ile3142=)
c.8331T>C (p.Ile2777=)
c.4515T>C (p.Ile1505=)
c.4068T>C (p.Ile1356=)
c.3405T>C (p.Ile1135=)
c.7920T>C (p.Ile2640=)
 gnomAD v4
5g.13776494A>TCA443535740DNAH5c.9318T>A (p.Ile3106=)
c.9273T>A (p.Ile3091=)
c.9426T>A (p.Ile3142=)
c.8331T>A (p.Ile2777=)
c.4515T>A (p.Ile1505=)
c.4068T>A (p.Ile1356=)
c.3405T>A (p.Ile1135=)
c.7920T>A (p.Ile2640=)
5g.13776495A=CA1528435089DNAH5c.9317T= (p.Ile3106=)
c.9272T= (p.Ile3091=)
c.9425T= (p.Ile3142=)
c.8330T= (p.Ile2777=)
c.4514T= (p.Ile1505=)
c.4067T= (p.Ile1356=)
c.3404T= (p.Ile1135=)
c.7919T= (p.Ile2640=)
5g.13776495A>CCA359208207DNAH5c.9317T>G (p.Ile3106Ser)
c.9272T>G (p.Ile3091Ser)
c.9425T>G (p.Ile3142Ser)
c.8330T>G (p.Ile2777Ser)
c.4514T>G (p.Ile1505Ser)
c.4067T>G (p.Ile1356Ser)
c.3404T>G (p.Ile1135Ser)
c.7919T>G (p.Ile2640Ser)
5g.13776495A>GCA113937653DNAH5c.9317T>C (p.Ile3106Thr)
c.9272T>C (p.Ile3091Thr)
c.9425T>C (p.Ile3142Thr)
c.8330T>C (p.Ile2777Thr)
c.4514T>C (p.Ile1505Thr)
c.4067T>C (p.Ile1356Thr)
c.3404T>C (p.Ile1135Thr)
c.7919T>C (p.Ile2640Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13776495A>TCA359208208DNAH5c.9317T>A (p.Ile3106Asn)
c.9272T>A (p.Ile3091Asn)
c.9425T>A (p.Ile3142Asn)
c.8330T>A (p.Ile2777Asn)
c.4514T>A (p.Ile1505Asn)
c.4067T>A (p.Ile1356Asn)
c.3404T>A (p.Ile1135Asn)
c.7919T>A (p.Ile2640Asn)
5g.13776496T>ACA359208210DNAH5c.9316A>T (p.Ile3106Phe)
c.9271A>T (p.Ile3091Phe)
c.9424A>T (p.Ile3142Phe)
c.8329A>T (p.Ile2777Phe)
c.4513A>T (p.Ile1505Phe)
c.4066A>T (p.Ile1356Phe)
c.3403A>T (p.Ile1135Phe)
c.7918A>T (p.Ile2640Phe)
5g.13776496T>CCA359208212DNAH5c.9316A>G (p.Ile3106Val)
c.9271A>G (p.Ile3091Val)
c.9424A>G (p.Ile3142Val)
c.8329A>G (p.Ile2777Val)
c.4513A>G (p.Ile1505Val)
c.4066A>G (p.Ile1356Val)
c.3403A>G (p.Ile1135Val)
c.7918A>G (p.Ile2640Val)
 dbSNP gnomAD v4
5g.13776496T>GCA359208214DNAH5c.9316A>C (p.Ile3106Leu)
c.9271A>C (p.Ile3091Leu)
c.9424A>C (p.Ile3142Leu)
c.8329A>C (p.Ile2777Leu)
c.4513A>C (p.Ile1505Leu)
c.4066A>C (p.Ile1356Leu)
c.3403A>C (p.Ile1135Leu)
c.7918A>C (p.Ile2640Leu)
5g.13776496T=CA1528435094DNAH5c.9316A= (p.Ile3106=)
c.9271A= (p.Ile3091=)
c.9424A= (p.Ile3142=)
c.8329A= (p.Ile2777=)
c.4513A= (p.Ile1505=)
c.4066A= (p.Ile1356=)
c.3403A= (p.Ile1135=)
c.7918A= (p.Ile2640=)
5g.13776497T>ACA443535747DNAH5c.9315A>T (p.Leu3105=)
c.9270A>T (p.Leu3090=)
c.9423A>T (p.Leu3141=)
c.8328A>T (p.Leu2776=)
c.4512A>T (p.Leu1504=)
c.4065A>T (p.Leu1355=)
c.3402A>T (p.Leu1134=)
c.7917A>T (p.Leu2639=)
5g.13776497T>CCA443535748DNAH5c.9315A>G (p.Leu3105=)
c.9270A>G (p.Leu3090=)
c.9423A>G (p.Leu3141=)
c.8328A>G (p.Leu2776=)
c.4512A>G (p.Leu1504=)
c.4065A>G (p.Leu1355=)
c.3402A>G (p.Leu1134=)
c.7917A>G (p.Leu2639=)
5g.13776497T>GCA443535749DNAH5c.9315A>C (p.Leu3105=)
c.9270A>C (p.Leu3090=)
c.9423A>C (p.Leu3141=)
c.8328A>C (p.Leu2776=)
c.4512A>C (p.Leu1504=)
c.4065A>C (p.Leu1355=)
c.3402A>C (p.Leu1134=)
c.7917A>C (p.Leu2639=)
 ClinVar
5g.13776498A>CCA359208217DNAH5c.9314T>G (p.Leu3105Arg)
c.9269T>G (p.Leu3090Arg)
c.9422T>G (p.Leu3141Arg)
c.8327T>G (p.Leu2776Arg)
c.4511T>G (p.Leu1504Arg)
c.4064T>G (p.Leu1355Arg)
c.3401T>G (p.Leu1134Arg)
c.7916T>G (p.Leu2639Arg)
5g.13776498A>GCA359208219DNAH5c.9314T>C (p.Leu3105Pro)
c.9269T>C (p.Leu3090Pro)
c.9422T>C (p.Leu3141Pro)
c.8327T>C (p.Leu2776Pro)
c.4511T>C (p.Leu1504Pro)
c.4064T>C (p.Leu1355Pro)
c.3401T>C (p.Leu1134Pro)
c.7916T>C (p.Leu2639Pro)
5g.13776498A>TCA359208222DNAH5c.9314T>A (p.Leu3105Gln)
c.9269T>A (p.Leu3090Gln)
c.9422T>A (p.Leu3141Gln)
c.8327T>A (p.Leu2776Gln)
c.4511T>A (p.Leu1504Gln)
c.4064T>A (p.Leu1355Gln)
c.3401T>A (p.Leu1134Gln)
c.7916T>A (p.Leu2639Gln)
5g.13776499G>ACA443535752DNAH5c.9313C>T (p.Leu3105=)
c.9268C>T (p.Leu3090=)
c.9421C>T (p.Leu3141=)
c.8326C>T (p.Leu2776=)
c.4510C>T (p.Leu1504=)
c.4063C>T (p.Leu1355=)
c.3400C>T (p.Leu1134=)
c.7915C>T (p.Leu2639=)
5g.13776499G>CCA359208228DNAH5c.9313C>G (p.Leu3105Val)
c.9268C>G (p.Leu3090Val)
c.9421C>G (p.Leu3141Val)
c.8326C>G (p.Leu2776Val)
c.4510C>G (p.Leu1504Val)
c.4063C>G (p.Leu1355Val)
c.3400C>G (p.Leu1134Val)
c.7915C>G (p.Leu2639Val)
5g.13776499G>TCA359208224DNAH5c.9313C>A (p.Leu3105Ile)
c.9268C>A (p.Leu3090Ile)
c.9421C>A (p.Leu3141Ile)
c.8326C>A (p.Leu2776Ile)
c.4510C>A (p.Leu1504Ile)
c.4063C>A (p.Leu1355Ile)
c.3400C>A (p.Leu1134Ile)
c.7915C>A (p.Leu2639Ile)
5g.13776501delCA2673268733DNAH5c.9313del (p.Leu3105Ter)
c.9268del (p.Leu3090Ter)
c.9421del (p.Leu3141Ter)
c.8326del (p.Leu2776Ter)
c.4510del (p.Leu1504Ter)
c.4063del (p.Leu1355Ter)
c.3400del (p.Leu1134Ter)
c.7915del (p.Leu2639Ter)
 gnomAD v4
5g.13776500G>ACA443535757DNAH5c.9312C>T (p.Ala3104=)
c.9267C>T (p.Ala3089=)
c.9420C>T (p.Ala3140=)
c.8325C>T (p.Ala2775=)
c.4509C>T (p.Ala1503=)
c.4062C>T (p.Ala1354=)
c.3399C>T (p.Ala1133=)
c.7914C>T (p.Ala2638=)
 ClinVar dbSNP gnomAD v4
5g.13776500G>CCA443535758DNAH5c.9312C>G (p.Ala3104=)
c.9267C>G (p.Ala3089=)
c.9420C>G (p.Ala3140=)
c.8325C>G (p.Ala2775=)
c.4509C>G (p.Ala1503=)
c.4062C>G (p.Ala1354=)
c.3399C>G (p.Ala1133=)
c.7914C>G (p.Ala2638=)
 ClinVar
5g.13776500G=CA1528435097DNAH5c.9312C= (p.Ala3104=)
c.9267C= (p.Ala3089=)
c.9420C= (p.Ala3140=)
c.8325C= (p.Ala2775=)
c.4509C= (p.Ala1503=)
c.4062C= (p.Ala1354=)
c.3399C= (p.Ala1133=)
c.7914C= (p.Ala2638=)
5g.13776500G>TCA443535759DNAH5c.9312C>A (p.Ala3104=)
c.9267C>A (p.Ala3089=)
c.9420C>A (p.Ala3140=)
c.8325C>A (p.Ala2775=)
c.4509C>A (p.Ala1503=)
c.4062C>A (p.Ala1354=)
c.3399C>A (p.Ala1133=)
c.7914C>A (p.Ala2638=)
5g.13776501G>ACA359208230DNAH5c.9311C>T (p.Ala3104Val)
c.9266C>T (p.Ala3089Val)
c.9419C>T (p.Ala3140Val)
c.8324C>T (p.Ala2775Val)
c.4508C>T (p.Ala1503Val)
c.4061C>T (p.Ala1354Val)
c.3398C>T (p.Ala1133Val)
c.7913C>T (p.Ala2638Val)
5g.13776501G>CCA359208232DNAH5c.9311C>G (p.Ala3104Gly)
c.9266C>G (p.Ala3089Gly)
c.9419C>G (p.Ala3140Gly)
c.8324C>G (p.Ala2775Gly)
c.4508C>G (p.Ala1503Gly)
c.4061C>G (p.Ala1354Gly)
c.3398C>G (p.Ala1133Gly)
c.7913C>G (p.Ala2638Gly)
5g.13776501G>TCA359208234DNAH5c.9311C>A (p.Ala3104Asp)
c.9266C>A (p.Ala3089Asp)
c.9419C>A (p.Ala3140Asp)
c.8324C>A (p.Ala2775Asp)
c.4508C>A (p.Ala1503Asp)
c.4061C>A (p.Ala1354Asp)
c.3398C>A (p.Ala1133Asp)
c.7913C>A (p.Ala2638Asp)
5g.13776502C>ACA359208236DNAH5c.9310G>T (p.Ala3104Ser)
c.9265G>T (p.Ala3089Ser)
c.9418G>T (p.Ala3140Ser)
c.8323G>T (p.Ala2775Ser)
c.4507G>T (p.Ala1503Ser)
c.4060G>T (p.Ala1354Ser)
c.3397G>T (p.Ala1133Ser)
c.7912G>T (p.Ala2638Ser)
5g.13776502C>GCA359208238DNAH5c.9310G>C (p.Ala3104Pro)
c.9265G>C (p.Ala3089Pro)
c.9418G>C (p.Ala3140Pro)
c.8323G>C (p.Ala2775Pro)
c.4507G>C (p.Ala1503Pro)
c.4060G>C (p.Ala1354Pro)
c.3397G>C (p.Ala1133Pro)
c.7912G>C (p.Ala2638Pro)
5g.13776502C>TCA359208239DNAH5c.9310G>A (p.Ala3104Thr)
c.9265G>A (p.Ala3089Thr)
c.9418G>A (p.Ala3140Thr)
c.8323G>A (p.Ala2775Thr)
c.4507G>A (p.Ala1503Thr)
c.4060G>A (p.Ala1354Thr)
c.3397G>A (p.Ala1133Thr)
c.7912G>A (p.Ala2638Thr)
5g.13776503A>CCA443535761DNAH5c.9309T>G (p.Pro3103=)
c.9264T>G (p.Pro3088=)
c.9417T>G (p.Pro3139=)
c.8322T>G (p.Pro2774=)
c.4506T>G (p.Pro1502=)
c.4059T>G (p.Pro1353=)
c.3396T>G (p.Pro1132=)
c.7911T>G (p.Pro2637=)
5g.13776503A>GCA443535762DNAH5c.9309T>C (p.Pro3103=)
c.9264T>C (p.Pro3088=)
c.9417T>C (p.Pro3139=)
c.8322T>C (p.Pro2774=)
c.4506T>C (p.Pro1502=)
c.4059T>C (p.Pro1353=)
c.3396T>C (p.Pro1132=)
c.7911T>C (p.Pro2637=)
5g.13776503A>TCA443535763DNAH5c.9309T>A (p.Pro3103=)
c.9264T>A (p.Pro3088=)
c.9417T>A (p.Pro3139=)
c.8322T>A (p.Pro2774=)
c.4506T>A (p.Pro1502=)
c.4059T>A (p.Pro1353=)
c.3396T>A (p.Pro1132=)
c.7911T>A (p.Pro2637=)
5g.13776504G>ACA359208246DNAH5c.9308C>T (p.Pro3103Leu)
c.9263C>T (p.Pro3088Leu)
c.9416C>T (p.Pro3139Leu)
c.8321C>T (p.Pro2774Leu)
c.4505C>T (p.Pro1502Leu)
c.4058C>T (p.Pro1353Leu)
c.3395C>T (p.Pro1132Leu)
c.7910C>T (p.Pro2637Leu)
5g.13776504G>CCA359208243DNAH5c.9308C>G (p.Pro3103Arg)
c.9263C>G (p.Pro3088Arg)
c.9416C>G (p.Pro3139Arg)
c.8321C>G (p.Pro2774Arg)
c.4505C>G (p.Pro1502Arg)
c.4058C>G (p.Pro1353Arg)
c.3395C>G (p.Pro1132Arg)
c.7910C>G (p.Pro2637Arg)
5g.13776504G>TCA359208241DNAH5c.9308C>A (p.Pro3103His)
c.9263C>A (p.Pro3088His)
c.9416C>A (p.Pro3139His)
c.8321C>A (p.Pro2774His)
c.4505C>A (p.Pro1502His)
c.4058C>A (p.Pro1353His)
c.3395C>A (p.Pro1132His)
c.7910C>A (p.Pro2637His)
5g.13776505G>ACA359208248DNAH5c.9307C>T (p.Pro3103Ser)
c.9262C>T (p.Pro3088Ser)
c.9415C>T (p.Pro3139Ser)
c.8320C>T (p.Pro2774Ser)
c.4504C>T (p.Pro1502Ser)
c.4057C>T (p.Pro1353Ser)
c.3394C>T (p.Pro1132Ser)
c.7909C>T (p.Pro2637Ser)
5g.13776505G>CCA359208250DNAH5c.9307C>G (p.Pro3103Ala)
c.9262C>G (p.Pro3088Ala)
c.9415C>G (p.Pro3139Ala)
c.8320C>G (p.Pro2774Ala)
c.4504C>G (p.Pro1502Ala)
c.4057C>G (p.Pro1353Ala)
c.3394C>G (p.Pro1132Ala)
c.7909C>G (p.Pro2637Ala)
5g.13776505G>TCA359208251DNAH5c.9307C>A (p.Pro3103Thr)
c.9262C>A (p.Pro3088Thr)
c.9415C>A (p.Pro3139Thr)
c.8320C>A (p.Pro2774Thr)
c.4504C>A (p.Pro1502Thr)
c.4057C>A (p.Pro1353Thr)
c.3394C>A (p.Pro1132Thr)
c.7909C>A (p.Pro2637Thr)
5g.13776506G>ACA3202583DNAH5c.9306C>T (p.Phe3102=)
c.9261C>T (p.Phe3087=)
c.9414C>T (p.Phe3138=)
c.8319C>T (p.Phe2773=)
c.4503C>T (p.Phe1501=)
c.4056C>T (p.Phe1352=)
c.3393C>T (p.Phe1131=)
c.7908C>T (p.Phe2636=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13776506G>CCA359208274DNAH5c.9306C>G (p.Phe3102Leu)
c.9261C>G (p.Phe3087Leu)
c.9414C>G (p.Phe3138Leu)
c.8319C>G (p.Phe2773Leu)
c.4503C>G (p.Phe1501Leu)
c.4056C>G (p.Phe1352Leu)
c.3393C>G (p.Phe1131Leu)
c.7908C>G (p.Phe2636Leu)
5g.13776506G=CA1528435099DNAH5c.9306C= (p.Phe3102=)
c.9261C= (p.Phe3087=)
c.9414C= (p.Phe3138=)
c.8319C= (p.Phe2773=)
c.4503C= (p.Phe1501=)
c.4056C= (p.Phe1352=)
c.3393C= (p.Phe1131=)
c.7908C= (p.Phe2636=)
5g.13776506G>TCA359208281DNAH5c.9306C>A (p.Phe3102Leu)
c.9261C>A (p.Phe3087Leu)
c.9414C>A (p.Phe3138Leu)
c.8319C>A (p.Phe2773Leu)
c.4503C>A (p.Phe1501Leu)
c.4056C>A (p.Phe1352Leu)
c.3393C>A (p.Phe1131Leu)
c.7908C>A (p.Phe2636Leu)
5g.13776507A>CCA359208287DNAH5c.9305T>G (p.Phe3102Cys)
c.9260T>G (p.Phe3087Cys)
c.9413T>G (p.Phe3138Cys)
c.8318T>G (p.Phe2773Cys)
c.4502T>G (p.Phe1501Cys)
c.4055T>G (p.Phe1352Cys)
c.3392T>G (p.Phe1131Cys)
c.7907T>G (p.Phe2636Cys)
5g.13776507A>GCA359208285DNAH5c.9305T>C (p.Phe3102Ser)
c.9260T>C (p.Phe3087Ser)
c.9413T>C (p.Phe3138Ser)
c.8318T>C (p.Phe2773Ser)
c.4502T>C (p.Phe1501Ser)
c.4055T>C (p.Phe1352Ser)
c.3392T>C (p.Phe1131Ser)
c.7907T>C (p.Phe2636Ser)
5g.13776507A>TCA359208286DNAH5c.9305T>A (p.Phe3102Tyr)
c.9260T>A (p.Phe3087Tyr)
c.9413T>A (p.Phe3138Tyr)
c.8318T>A (p.Phe2773Tyr)
c.4502T>A (p.Phe1501Tyr)
c.4055T>A (p.Phe1352Tyr)
c.3392T>A (p.Phe1131Tyr)
c.7907T>A (p.Phe2636Tyr)
5g.13776508A>CCA359208288DNAH5c.9304T>G (p.Phe3102Val)
c.9259T>G (p.Phe3087Val)
c.9412T>G (p.Phe3138Val)
c.8317T>G (p.Phe2773Val)
c.4501T>G (p.Phe1501Val)
c.4054T>G (p.Phe1352Val)
c.3391T>G (p.Phe1131Val)
c.7906T>G (p.Phe2636Val)
5g.13776508A>GCA359208289DNAH5c.9304T>C (p.Phe3102Leu)
c.9259T>C (p.Phe3087Leu)
c.9412T>C (p.Phe3138Leu)
c.8317T>C (p.Phe2773Leu)
c.4501T>C (p.Phe1501Leu)
c.4054T>C (p.Phe1352Leu)
c.3391T>C (p.Phe1131Leu)
c.7906T>C (p.Phe2636Leu)
5g.13776508A>TCA359208290DNAH5c.9304T>A (p.Phe3102Ile)
c.9259T>A (p.Phe3087Ile)
c.9412T>A (p.Phe3138Ile)
c.8317T>A (p.Phe2773Ile)
c.4501T>A (p.Phe1501Ile)
c.4054T>A (p.Phe1352Ile)
c.3391T>A (p.Phe1131Ile)
c.7906T>A (p.Phe2636Ile)

Number of alleles fetched