Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.13692042G>ACA3201234DNAH5n.1150C>T
c.13817C>T (p.Ala4606Val)
c.13772C>T (p.Ala4591Val)
c.13925C>T (p.Ala4642Val)
c.13505C>T (p.Ala4502Val)
c.12830C>T (p.Ala4277Val)
c.9014C>T (p.Ala3005Val)
c.8567C>T (p.Ala2856Val)
c.7904C>T (p.Ala2635Val)
c.12419C>T (p.Ala4140Val)
 dbSNP ExAC gnomAD v2
5g.13692042G>CCA359188597DNAH5n.1150C>G
c.13817C>G (p.Ala4606Gly)
c.13772C>G (p.Ala4591Gly)
c.13925C>G (p.Ala4642Gly)
c.13505C>G (p.Ala4502Gly)
c.12830C>G (p.Ala4277Gly)
c.9014C>G (p.Ala3005Gly)
c.8567C>G (p.Ala2856Gly)
c.7904C>G (p.Ala2635Gly)
c.12419C>G (p.Ala4140Gly)
5g.13692042G=CA1528395855DNAH5n.1150C=
c.13817C= (p.Ala4606=)
c.13772C= (p.Ala4591=)
c.13925C= (p.Ala4642=)
c.13505C= (p.Ala4502=)
c.12830C= (p.Ala4277=)
c.9014C= (p.Ala3005=)
c.8567C= (p.Ala2856=)
c.7904C= (p.Ala2635=)
c.12419C= (p.Ala4140=)
5g.13692042G>TCA3201233DNAH5n.1150C>A
c.13817C>A (p.Ala4606Asp)
c.13772C>A (p.Ala4591Asp)
c.13925C>A (p.Ala4642Asp)
c.13505C>A (p.Ala4502Asp)
c.12830C>A (p.Ala4277Asp)
c.9014C>A (p.Ala3005Asp)
c.8567C>A (p.Ala2856Asp)
c.7904C>A (p.Ala2635Asp)
c.12419C>A (p.Ala4140Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13692043C>ACA359188598DNAH5n.1149G>T
c.13816G>T (p.Ala4606Ser)
c.13771G>T (p.Ala4591Ser)
c.13924G>T (p.Ala4642Ser)
c.13504G>T (p.Ala4502Ser)
c.12829G>T (p.Ala4277Ser)
c.9013G>T (p.Ala3005Ser)
c.8566G>T (p.Ala2856Ser)
c.7903G>T (p.Ala2635Ser)
c.12418G>T (p.Ala4140Ser)
 gnomAD v4
5g.13692043C>GCA359188599DNAH5n.1149G>C
c.13816G>C (p.Ala4606Pro)
c.13771G>C (p.Ala4591Pro)
c.13924G>C (p.Ala4642Pro)
c.13504G>C (p.Ala4502Pro)
c.12829G>C (p.Ala4277Pro)
c.9013G>C (p.Ala3005Pro)
c.8566G>C (p.Ala2856Pro)
c.7903G>C (p.Ala2635Pro)
c.12418G>C (p.Ala4140Pro)
 gnomAD v4
5g.13692043C>TCA359188600DNAH5n.1149G>A
c.13816G>A (p.Ala4606Thr)
c.13771G>A (p.Ala4591Thr)
c.13924G>A (p.Ala4642Thr)
c.13504G>A (p.Ala4502Thr)
c.12829G>A (p.Ala4277Thr)
c.9013G>A (p.Ala3005Thr)
c.8566G>A (p.Ala2856Thr)
c.7903G>A (p.Ala2635Thr)
c.12418G>A (p.Ala4140Thr)
5g.13692044T>ACA443248667DNAH5n.1148A>T
c.13815A>T (p.Thr4605=)
c.13770A>T (p.Thr4590=)
c.13923A>T (p.Thr4641=)
c.13503A>T (p.Thr4501=)
c.12828A>T (p.Thr4276=)
c.9012A>T (p.Thr3004=)
c.8565A>T (p.Thr2855=)
c.7902A>T (p.Thr2634=)
c.12417A>T (p.Thr4139=)
5g.13692044T>CCA443248668DNAH5n.1148A>G
c.13815A>G (p.Thr4605=)
c.13770A>G (p.Thr4590=)
c.13923A>G (p.Thr4641=)
c.13503A>G (p.Thr4501=)
c.12828A>G (p.Thr4276=)
c.9012A>G (p.Thr3004=)
c.8565A>G (p.Thr2855=)
c.7902A>G (p.Thr2634=)
c.12417A>G (p.Thr4139=)
5g.13692044T>GCA113905456DNAH5n.1148A>C
c.13815A>C (p.Thr4605=)
c.13770A>C (p.Thr4590=)
c.13923A>C (p.Thr4641=)
c.13503A>C (p.Thr4501=)
c.12828A>C (p.Thr4276=)
c.9012A>C (p.Thr3004=)
c.8565A>C (p.Thr2855=)
c.7902A>C (p.Thr2634=)
c.12417A>C (p.Thr4139=)
 dbSNP
5g.13692044T=CA1528395856DNAH5n.1148A=
c.13815A= (p.Thr4605=)
c.13770A= (p.Thr4590=)
c.13923A= (p.Thr4641=)
c.13503A= (p.Thr4501=)
c.12828A= (p.Thr4276=)
c.9012A= (p.Thr3004=)
c.8565A= (p.Thr2855=)
c.7902A= (p.Thr2634=)
c.12417A= (p.Thr4139=)
5g.13692045G>ACA359188602DNAH5n.1147C>T
c.13814C>T (p.Thr4605Ile)
c.13769C>T (p.Thr4590Ile)
c.13922C>T (p.Thr4641Ile)
c.13502C>T (p.Thr4501Ile)
c.12827C>T (p.Thr4276Ile)
c.9011C>T (p.Thr3004Ile)
c.8564C>T (p.Thr2855Ile)
c.7901C>T (p.Thr2634Ile)
c.12416C>T (p.Thr4139Ile)
5g.13692045G>CCA359188603DNAH5n.1147C>G
c.13814C>G (p.Thr4605Arg)
c.13769C>G (p.Thr4590Arg)
c.13922C>G (p.Thr4641Arg)
c.13502C>G (p.Thr4501Arg)
c.12827C>G (p.Thr4276Arg)
c.9011C>G (p.Thr3004Arg)
c.8564C>G (p.Thr2855Arg)
c.7901C>G (p.Thr2634Arg)
c.12416C>G (p.Thr4139Arg)
5g.13692045G>TCA359188601DNAH5n.1147C>A
c.13814C>A (p.Thr4605Lys)
c.13769C>A (p.Thr4590Lys)
c.13922C>A (p.Thr4641Lys)
c.13502C>A (p.Thr4501Lys)
c.12827C>A (p.Thr4276Lys)
c.9011C>A (p.Thr3004Lys)
c.8564C>A (p.Thr2855Lys)
c.7901C>A (p.Thr2634Lys)
c.12416C>A (p.Thr4139Lys)
5g.13692046T>ACA359188606DNAH5n.1146A>T
c.13813A>T (p.Thr4605Ser)
c.13768A>T (p.Thr4590Ser)
c.13921A>T (p.Thr4641Ser)
c.13501A>T (p.Thr4501Ser)
c.12826A>T (p.Thr4276Ser)
c.9010A>T (p.Thr3004Ser)
c.8563A>T (p.Thr2855Ser)
c.7900A>T (p.Thr2634Ser)
c.12415A>T (p.Thr4139Ser)
5g.13692046T>CCA359188604DNAH5n.1146A>G
c.13813A>G (p.Thr4605Ala)
c.13768A>G (p.Thr4590Ala)
c.13921A>G (p.Thr4641Ala)
c.13501A>G (p.Thr4501Ala)
c.12826A>G (p.Thr4276Ala)
c.9010A>G (p.Thr3004Ala)
c.8563A>G (p.Thr2855Ala)
c.7900A>G (p.Thr2634Ala)
c.12415A>G (p.Thr4139Ala)
 COSMIC
5g.13692046T>GCA359188605DNAH5n.1146A>C
c.13813A>C (p.Thr4605Pro)
c.13768A>C (p.Thr4590Pro)
c.13921A>C (p.Thr4641Pro)
c.13501A>C (p.Thr4501Pro)
c.12826A>C (p.Thr4276Pro)
c.9010A>C (p.Thr3004Pro)
c.8563A>C (p.Thr2855Pro)
c.7900A>C (p.Thr2634Pro)
c.12415A>C (p.Thr4139Pro)
5g.13692047C>ACA359188607DNAH5n.1145G>T
c.13812G>T (p.Arg4604Ser)
c.13767G>T (p.Arg4589Ser)
c.13920G>T (p.Arg4640Ser)
c.13500G>T (p.Arg4500Ser)
c.12825G>T (p.Arg4275Ser)
c.9009G>T (p.Arg3003Ser)
c.8562G>T (p.Arg2854Ser)
c.7899G>T (p.Arg2633Ser)
c.12414G>T (p.Arg4138Ser)
 dbSNP
5g.13692047C=CA1528395857DNAH5n.1145G=
c.13812G= (p.Arg4604=)
c.13767G= (p.Arg4589=)
c.13920G= (p.Arg4640=)
c.13500G= (p.Arg4500=)
c.12825G= (p.Arg4275=)
c.9009G= (p.Arg3003=)
c.8562G= (p.Arg2854=)
c.7899G= (p.Arg2633=)
c.12414G= (p.Arg4138=)
5g.13692047C>GCA359188608DNAH5n.1145G>C
c.13812G>C (p.Arg4604Ser)
c.13767G>C (p.Arg4589Ser)
c.13920G>C (p.Arg4640Ser)
c.13500G>C (p.Arg4500Ser)
c.12825G>C (p.Arg4275Ser)
c.9009G>C (p.Arg3003Ser)
c.8562G>C (p.Arg2854Ser)
c.7899G>C (p.Arg2633Ser)
c.12414G>C (p.Arg4138Ser)
5g.13692047C>TCA443248672DNAH5n.1145G>A
c.13812G>A (p.Arg4604=)
c.13767G>A (p.Arg4589=)
c.13920G>A (p.Arg4640=)
c.13500G>A (p.Arg4500=)
c.12825G>A (p.Arg4275=)
c.9009G>A (p.Arg3003=)
c.8562G>A (p.Arg2854=)
c.7899G>A (p.Arg2633=)
c.12414G>A (p.Arg4138=)
 gnomAD v4
5g.13692048C>ACA359188609DNAH5n.1144G>T
c.13811G>T (p.Arg4604Met)
c.13766G>T (p.Arg4589Met)
c.13919G>T (p.Arg4640Met)
c.13499G>T (p.Arg4500Met)
c.12824G>T (p.Arg4275Met)
c.9008G>T (p.Arg3003Met)
c.8561G>T (p.Arg2854Met)
c.7898G>T (p.Arg2633Met)
c.12413G>T (p.Arg4138Met)
5g.13692048C>GCA359188610DNAH5n.1144G>C
c.13811G>C (p.Arg4604Thr)
c.13766G>C (p.Arg4589Thr)
c.13919G>C (p.Arg4640Thr)
c.13499G>C (p.Arg4500Thr)
c.12824G>C (p.Arg4275Thr)
c.9008G>C (p.Arg3003Thr)
c.8561G>C (p.Arg2854Thr)
c.7898G>C (p.Arg2633Thr)
c.12413G>C (p.Arg4138Thr)
5g.13692048C>TCA359188611DNAH5n.1144G>A
c.13811G>A (p.Arg4604Lys)
c.13766G>A (p.Arg4589Lys)
c.13919G>A (p.Arg4640Lys)
c.13499G>A (p.Arg4500Lys)
c.12824G>A (p.Arg4275Lys)
c.9008G>A (p.Arg3003Lys)
c.8561G>A (p.Arg2854Lys)
c.7898G>A (p.Arg2633Lys)
c.12413G>A (p.Arg4138Lys)
 gnomAD v4
5g.13692049T>ACA359188612DNAH5n.1143A>T
c.13810A>T (p.Arg4604Trp)
c.13765A>T (p.Arg4589Trp)
c.13918A>T (p.Arg4640Trp)
c.13498A>T (p.Arg4500Trp)
c.12823A>T (p.Arg4275Trp)
c.9007A>T (p.Arg3003Trp)
c.8560A>T (p.Arg2854Trp)
c.7897A>T (p.Arg2633Trp)
c.12412A>T (p.Arg4138Trp)
5g.13692049T>CCA359188613DNAH5n.1143A>G
c.13810A>G (p.Arg4604Gly)
c.13765A>G (p.Arg4589Gly)
c.13918A>G (p.Arg4640Gly)
c.13498A>G (p.Arg4500Gly)
c.12823A>G (p.Arg4275Gly)
c.9007A>G (p.Arg3003Gly)
c.8560A>G (p.Arg2854Gly)
c.7897A>G (p.Arg2633Gly)
c.12412A>G (p.Arg4138Gly)
5g.13692049T>GCA443248679DNAH5n.1143A>C
c.13810A>C (p.Arg4604=)
c.13765A>C (p.Arg4589=)
c.13918A>C (p.Arg4640=)
c.13498A>C (p.Arg4500=)
c.12823A>C (p.Arg4275=)
c.9007A>C (p.Arg3003=)
c.8560A>C (p.Arg2854=)
c.7897A>C (p.Arg2633=)
c.12412A>C (p.Arg4138=)
5g.13692050G>ACA113905458DNAH5n.1142C>T
c.13809C>T (p.Leu4603=)
c.13764C>T (p.Leu4588=)
c.13917C>T (p.Leu4639=)
c.13497C>T (p.Leu4499=)
c.12822C>T (p.Leu4274=)
c.9006C>T (p.Leu3002=)
c.8559C>T (p.Leu2853=)
c.7896C>T (p.Leu2632=)
c.12411C>T (p.Leu4137=)
 dbSNP
5g.13692050G>CCA443248680DNAH5n.1142C>G
c.13809C>G (p.Leu4603=)
c.13764C>G (p.Leu4588=)
c.13917C>G (p.Leu4639=)
c.13497C>G (p.Leu4499=)
c.12822C>G (p.Leu4274=)
c.9006C>G (p.Leu3002=)
c.8559C>G (p.Leu2853=)
c.7896C>G (p.Leu2632=)
c.12411C>G (p.Leu4137=)
5g.13692050G=CA1528395858DNAH5n.1142C=
c.13809C= (p.Leu4603=)
c.13764C= (p.Leu4588=)
c.13917C= (p.Leu4639=)
c.13497C= (p.Leu4499=)
c.12822C= (p.Leu4274=)
c.9006C= (p.Leu3002=)
c.8559C= (p.Leu2853=)
c.7896C= (p.Leu2632=)
c.12411C= (p.Leu4137=)
5g.13692050G>TCA443248681DNAH5n.1142C>A
c.13809C>A (p.Leu4603=)
c.13764C>A (p.Leu4588=)
c.13917C>A (p.Leu4639=)
c.13497C>A (p.Leu4499=)
c.12822C>A (p.Leu4274=)
c.9006C>A (p.Leu3002=)
c.8559C>A (p.Leu2853=)
c.7896C>A (p.Leu2632=)
c.12411C>A (p.Leu4137=)
5g.13692051A>CCA359188614DNAH5n.1141T>G
c.13808T>G (p.Leu4603Arg)
c.13763T>G (p.Leu4588Arg)
c.13916T>G (p.Leu4639Arg)
c.13496T>G (p.Leu4499Arg)
c.12821T>G (p.Leu4274Arg)
c.9005T>G (p.Leu3002Arg)
c.8558T>G (p.Leu2853Arg)
c.7895T>G (p.Leu2632Arg)
c.12410T>G (p.Leu4137Arg)
 gnomAD v4
5g.13692051A>GCA359188615DNAH5n.1141T>C
c.13808T>C (p.Leu4603Pro)
c.13763T>C (p.Leu4588Pro)
c.13916T>C (p.Leu4639Pro)
c.13496T>C (p.Leu4499Pro)
c.12821T>C (p.Leu4274Pro)
c.9005T>C (p.Leu3002Pro)
c.8558T>C (p.Leu2853Pro)
c.7895T>C (p.Leu2632Pro)
c.12410T>C (p.Leu4137Pro)
5g.13692051A>TCA359188616DNAH5n.1141T>A
c.13808T>A (p.Leu4603His)
c.13763T>A (p.Leu4588His)
c.13916T>A (p.Leu4639His)
c.13496T>A (p.Leu4499His)
c.12821T>A (p.Leu4274His)
c.9005T>A (p.Leu3002His)
c.8558T>A (p.Leu2853His)
c.7895T>A (p.Leu2632His)
c.12410T>A (p.Leu4137His)
5g.13692052G>ACA3201235DNAH5n.1140C>T
c.13807C>T (p.Leu4603Phe)
c.13762C>T (p.Leu4588Phe)
c.13915C>T (p.Leu4639Phe)
c.13495C>T (p.Leu4499Phe)
c.12820C>T (p.Leu4274Phe)
c.9004C>T (p.Leu3002Phe)
c.8557C>T (p.Leu2853Phe)
c.7894C>T (p.Leu2632Phe)
c.12409C>T (p.Leu4137Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13692052G>CCA359188618DNAH5n.1140C>G
c.13807C>G (p.Leu4603Val)
c.13762C>G (p.Leu4588Val)
c.13915C>G (p.Leu4639Val)
c.13495C>G (p.Leu4499Val)
c.12820C>G (p.Leu4274Val)
c.9004C>G (p.Leu3002Val)
c.8557C>G (p.Leu2853Val)
c.7894C>G (p.Leu2632Val)
c.12409C>G (p.Leu4137Val)
5g.13692052G=CA1528395859DNAH5n.1140C=
c.13807C= (p.Leu4603=)
c.13762C= (p.Leu4588=)
c.13915C= (p.Leu4639=)
c.13495C= (p.Leu4499=)
c.12820C= (p.Leu4274=)
c.9004C= (p.Leu3002=)
c.8557C= (p.Leu2853=)
c.7894C= (p.Leu2632=)
c.12409C= (p.Leu4137=)
5g.13692052G>TCA359188617DNAH5n.1140C>A
c.13807C>A (p.Leu4603Ile)
c.13762C>A (p.Leu4588Ile)
c.13915C>A (p.Leu4639Ile)
c.13495C>A (p.Leu4499Ile)
c.12820C>A (p.Leu4274Ile)
c.9004C>A (p.Leu3002Ile)
c.8557C>A (p.Leu2853Ile)
c.7894C>A (p.Leu2632Ile)
c.12409C>A (p.Leu4137Ile)
5g.13692053A=CA1528395860DNAH5n.1139T=
c.13806T= (p.Asp4602=)
c.13761T= (p.Asp4587=)
c.13914T= (p.Asp4638=)
c.13494T= (p.Asp4498=)
c.12819T= (p.Asp4273=)
c.9003T= (p.Asp3001=)
c.8556T= (p.Asp2852=)
c.7893T= (p.Asp2631=)
c.12408T= (p.Asp4136=)
5g.13692053A>CCA359188619DNAH5n.1139T>G
c.13806T>G (p.Asp4602Glu)
c.13761T>G (p.Asp4587Glu)
c.13914T>G (p.Asp4638Glu)
c.13494T>G (p.Asp4498Glu)
c.12819T>G (p.Asp4273Glu)
c.9003T>G (p.Asp3001Glu)
c.8556T>G (p.Asp2852Glu)
c.7893T>G (p.Asp2631Glu)
c.12408T>G (p.Asp4136Glu)
5g.13692053A>GCA443248684DNAH5n.1139T>C
c.13806T>C (p.Asp4602=)
c.13761T>C (p.Asp4587=)
c.13914T>C (p.Asp4638=)
c.13494T>C (p.Asp4498=)
c.12819T>C (p.Asp4273=)
c.9003T>C (p.Asp3001=)
c.8556T>C (p.Asp2852=)
c.7893T>C (p.Asp2631=)
c.12408T>C (p.Asp4136=)
 dbSNP gnomAD v2 gnomAD v4
5g.13692053A>TCA359188620DNAH5n.1139T>A
c.13806T>A (p.Asp4602Glu)
c.13761T>A (p.Asp4587Glu)
c.13914T>A (p.Asp4638Glu)
c.13494T>A (p.Asp4498Glu)
c.12819T>A (p.Asp4273Glu)
c.9003T>A (p.Asp3001Glu)
c.8556T>A (p.Asp2852Glu)
c.7893T>A (p.Asp2631Glu)
c.12408T>A (p.Asp4136Glu)
5g.13692054T>ACA359188621DNAH5n.1138A>T
c.13805A>T (p.Asp4602Val)
c.13760A>T (p.Asp4587Val)
c.13913A>T (p.Asp4638Val)
c.13493A>T (p.Asp4498Val)
c.12818A>T (p.Asp4273Val)
c.9002A>T (p.Asp3001Val)
c.8555A>T (p.Asp2852Val)
c.7892A>T (p.Asp2631Val)
c.12407A>T (p.Asp4136Val)
5g.13692054T>CCA359188622DNAH5n.1138A>G
c.13805A>G (p.Asp4602Gly)
c.13760A>G (p.Asp4587Gly)
c.13913A>G (p.Asp4638Gly)
c.13493A>G (p.Asp4498Gly)
c.12818A>G (p.Asp4273Gly)
c.9002A>G (p.Asp3001Gly)
c.8555A>G (p.Asp2852Gly)
c.7892A>G (p.Asp2631Gly)
c.12407A>G (p.Asp4136Gly)
5g.13692054T>GCA359188623DNAH5n.1138A>C
c.13805A>C (p.Asp4602Ala)
c.13760A>C (p.Asp4587Ala)
c.13913A>C (p.Asp4638Ala)
c.13493A>C (p.Asp4498Ala)
c.12818A>C (p.Asp4273Ala)
c.9002A>C (p.Asp3001Ala)
c.8555A>C (p.Asp2852Ala)
c.7892A>C (p.Asp2631Ala)
c.12407A>C (p.Asp4136Ala)
5g.13692055C>ACA359188624DNAH5n.1137G>T
c.13804G>T (p.Asp4602Tyr)
c.13759G>T (p.Asp4587Tyr)
c.13912G>T (p.Asp4638Tyr)
c.13492G>T (p.Asp4498Tyr)
c.12817G>T (p.Asp4273Tyr)
c.9001G>T (p.Asp3001Tyr)
c.8554G>T (p.Asp2852Tyr)
c.7891G>T (p.Asp2631Tyr)
c.12406G>T (p.Asp4136Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13692055C=CA1528395861DNAH5n.1137G=
c.13804G= (p.Asp4602=)
c.13759G= (p.Asp4587=)
c.13912G= (p.Asp4638=)
c.13492G= (p.Asp4498=)
c.12817G= (p.Asp4273=)
c.9001G= (p.Asp3001=)
c.8554G= (p.Asp2852=)
c.7891G= (p.Asp2631=)
c.12406G= (p.Asp4136=)
5g.13692055C>GCA359188625DNAH5n.1137G>C
c.13804G>C (p.Asp4602His)
c.13759G>C (p.Asp4587His)
c.13912G>C (p.Asp4638His)
c.13492G>C (p.Asp4498His)
c.12817G>C (p.Asp4273His)
c.9001G>C (p.Asp3001His)
c.8554G>C (p.Asp2852His)
c.7891G>C (p.Asp2631His)
c.12406G>C (p.Asp4136His)
5g.13692055C>TCA3201236DNAH5n.1137G>A
c.13804G>A (p.Asp4602Asn)
c.13759G>A (p.Asp4587Asn)
c.13912G>A (p.Asp4638Asn)
c.13492G>A (p.Asp4498Asn)
c.12817G>A (p.Asp4273Asn)
c.9001G>A (p.Asp3001Asn)
c.8554G>A (p.Asp2852Asn)
c.7891G>A (p.Asp2631Asn)
c.12406G>A (p.Asp4136Asn)
 dbSNP ExAC gnomAD v2
5g.13692056C>ACA443248713DNAH5n.1136G>T
c.13803G>T (p.Val4601=)
c.13758G>T (p.Val4586=)
c.13911G>T (p.Val4637=)
c.13491G>T (p.Val4497=)
c.12816G>T (p.Val4272=)
c.9000G>T (p.Val3000=)
c.8553G>T (p.Val2851=)
c.7890G>T (p.Val2630=)
c.12405G>T (p.Val4135=)
5g.13692056C>GCA443248714DNAH5n.1136G>C
c.13803G>C (p.Val4601=)
c.13758G>C (p.Val4586=)
c.13911G>C (p.Val4637=)
c.13491G>C (p.Val4497=)
c.12816G>C (p.Val4272=)
c.9000G>C (p.Val3000=)
c.8553G>C (p.Val2851=)
c.7890G>C (p.Val2630=)
c.12405G>C (p.Val4135=)
5g.13692056C>TCA443248715DNAH5n.1136G>A
c.13803G>A (p.Val4601=)
c.13758G>A (p.Val4586=)
c.13911G>A (p.Val4637=)
c.13491G>A (p.Val4497=)
c.12816G>A (p.Val4272=)
c.9000G>A (p.Val3000=)
c.8553G>A (p.Val2851=)
c.7890G>A (p.Val2630=)
c.12405G>A (p.Val4135=)
5g.13692057A=CA1528395862DNAH5n.1135T=
c.13802T= (p.Val4601=)
c.13757T= (p.Val4586=)
c.13910T= (p.Val4637=)
c.13490T= (p.Val4497=)
c.12815T= (p.Val4272=)
c.8999T= (p.Val3000=)
c.8552T= (p.Val2851=)
c.7889T= (p.Val2630=)
c.12404T= (p.Val4135=)
5g.13692057A>CCA359188626DNAH5n.1135T>G
c.13802T>G (p.Val4601Gly)
c.13757T>G (p.Val4586Gly)
c.13910T>G (p.Val4637Gly)
c.13490T>G (p.Val4497Gly)
c.12815T>G (p.Val4272Gly)
c.8999T>G (p.Val3000Gly)
c.8552T>G (p.Val2851Gly)
c.7889T>G (p.Val2630Gly)
c.12404T>G (p.Val4135Gly)
5g.13692057A>GCA359188627DNAH5n.1135T>C
c.13802T>C (p.Val4601Ala)
c.13757T>C (p.Val4586Ala)
c.13910T>C (p.Val4637Ala)
c.13490T>C (p.Val4497Ala)
c.12815T>C (p.Val4272Ala)
c.8999T>C (p.Val3000Ala)
c.8552T>C (p.Val2851Ala)
c.7889T>C (p.Val2630Ala)
c.12404T>C (p.Val4135Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13692057A>TCA359188628DNAH5n.1135T>A
c.13802T>A (p.Val4601Glu)
c.13757T>A (p.Val4586Glu)
c.13910T>A (p.Val4637Glu)
c.13490T>A (p.Val4497Glu)
c.12815T>A (p.Val4272Glu)
c.8999T>A (p.Val3000Glu)
c.8552T>A (p.Val2851Glu)
c.7889T>A (p.Val2630Glu)
c.12404T>A (p.Val4135Glu)
5g.13692058C>ACA359188630DNAH5n.1134G>T
c.13801G>T (p.Val4601Leu)
c.13756G>T (p.Val4586Leu)
c.13909G>T (p.Val4637Leu)
c.13489G>T (p.Val4497Leu)
c.12814G>T (p.Val4272Leu)
c.8998G>T (p.Val3000Leu)
c.8551G>T (p.Val2851Leu)
c.7888G>T (p.Val2630Leu)
c.12403G>T (p.Val4135Leu)
5g.13692058C>GCA359188631DNAH5n.1134G>C
c.13801G>C (p.Val4601Leu)
c.13756G>C (p.Val4586Leu)
c.13909G>C (p.Val4637Leu)
c.13489G>C (p.Val4497Leu)
c.12814G>C (p.Val4272Leu)
c.8998G>C (p.Val3000Leu)
c.8551G>C (p.Val2851Leu)
c.7888G>C (p.Val2630Leu)
c.12403G>C (p.Val4135Leu)
5g.13692058C>TCA359188629DNAH5n.1134G>A
c.13801G>A (p.Val4601Met)
c.13756G>A (p.Val4586Met)
c.13909G>A (p.Val4637Met)
c.13489G>A (p.Val4497Met)
c.12814G>A (p.Val4272Met)
c.8998G>A (p.Val3000Met)
c.8551G>A (p.Val2851Met)
c.7888G>A (p.Val2630Met)
c.12403G>A (p.Val4135Met)
5g.13692059A>CCA443248719DNAH5n.1133T>G
c.13800T>G (p.Ala4600=)
c.13755T>G (p.Ala4585=)
c.13908T>G (p.Ala4636=)
c.13488T>G (p.Ala4496=)
c.12813T>G (p.Ala4271=)
c.8997T>G (p.Ala2999=)
c.8550T>G (p.Ala2850=)
c.7887T>G (p.Ala2629=)
c.12402T>G (p.Ala4134=)
5g.13692059A>GCA443248720DNAH5n.1133T>C
c.13800T>C (p.Ala4600=)
c.13755T>C (p.Ala4585=)
c.13908T>C (p.Ala4636=)
c.13488T>C (p.Ala4496=)
c.12813T>C (p.Ala4271=)
c.8997T>C (p.Ala2999=)
c.8550T>C (p.Ala2850=)
c.7887T>C (p.Ala2629=)
c.12402T>C (p.Ala4134=)
5g.13692059A>TCA443248721DNAH5n.1133T>A
c.13800T>A (p.Ala4600=)
c.13755T>A (p.Ala4585=)
c.13908T>A (p.Ala4636=)
c.13488T>A (p.Ala4496=)
c.12813T>A (p.Ala4271=)
c.8997T>A (p.Ala2999=)
c.8550T>A (p.Ala2850=)
c.7887T>A (p.Ala2629=)
c.12402T>A (p.Ala4134=)
5g.13692060G>ACA359188632DNAH5n.1132C>T
c.13799C>T (p.Ala4600Val)
c.13754C>T (p.Ala4585Val)
c.13907C>T (p.Ala4636Val)
c.13487C>T (p.Ala4496Val)
c.12812C>T (p.Ala4271Val)
c.8996C>T (p.Ala2999Val)
c.8549C>T (p.Ala2850Val)
c.7886C>T (p.Ala2629Val)
c.12401C>T (p.Ala4134Val)
5g.13692060G>CCA359188633DNAH5n.1132C>G
c.13799C>G (p.Ala4600Gly)
c.13754C>G (p.Ala4585Gly)
c.13907C>G (p.Ala4636Gly)
c.13487C>G (p.Ala4496Gly)
c.12812C>G (p.Ala4271Gly)
c.8996C>G (p.Ala2999Gly)
c.8549C>G (p.Ala2850Gly)
c.7886C>G (p.Ala2629Gly)
c.12401C>G (p.Ala4134Gly)
5g.13692060G>TCA359188634DNAH5n.1132C>A
c.13799C>A (p.Ala4600Asp)
c.13754C>A (p.Ala4585Asp)
c.13907C>A (p.Ala4636Asp)
c.13487C>A (p.Ala4496Asp)
c.12812C>A (p.Ala4271Asp)
c.8996C>A (p.Ala2999Asp)
c.8549C>A (p.Ala2850Asp)
c.7886C>A (p.Ala2629Asp)
c.12401C>A (p.Ala4134Asp)
5g.13692061C>ACA3201238DNAH5n.1131G>T
c.13798G>T (p.Ala4600Ser)
c.13753G>T (p.Ala4585Ser)
c.13906G>T (p.Ala4636Ser)
c.13486G>T (p.Ala4496Ser)
c.12811G>T (p.Ala4271Ser)
c.8995G>T (p.Ala2999Ser)
c.8548G>T (p.Ala2850Ser)
c.7885G>T (p.Ala2629Ser)
c.12400G>T (p.Ala4134Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13692061C=CA1528395863DNAH5n.1131G=
c.13798G= (p.Ala4600=)
c.13753G= (p.Ala4585=)
c.13906G= (p.Ala4636=)
c.13486G= (p.Ala4496=)
c.12811G= (p.Ala4271=)
c.8995G= (p.Ala2999=)
c.8548G= (p.Ala2850=)
c.7885G= (p.Ala2629=)
c.12400G= (p.Ala4134=)
5g.13692061C>GCA359188635DNAH5n.1131G>C
c.13798G>C (p.Ala4600Pro)
c.13753G>C (p.Ala4585Pro)
c.13906G>C (p.Ala4636Pro)
c.13486G>C (p.Ala4496Pro)
c.12811G>C (p.Ala4271Pro)
c.8995G>C (p.Ala2999Pro)
c.8548G>C (p.Ala2850Pro)
c.7885G>C (p.Ala2629Pro)
c.12400G>C (p.Ala4134Pro)
5g.13692061C>TCA3201237DNAH5n.1131G>A
c.13798G>A (p.Ala4600Thr)
c.13753G>A (p.Ala4585Thr)
c.13906G>A (p.Ala4636Thr)
c.13486G>A (p.Ala4496Thr)
c.12811G>A (p.Ala4271Thr)
c.8995G>A (p.Ala2999Thr)
c.8548G>A (p.Ala2850Thr)
c.7885G>A (p.Ala2629Thr)
c.12400G>A (p.Ala4134Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13692062G>ACA3201239DNAH5n.1130C>T
c.13797C>T (p.Ala4599=)
c.13752C>T (p.Ala4584=)
c.13905C>T (p.Ala4635=)
c.13485C>T (p.Ala4495=)
c.12810C>T (p.Ala4270=)
c.8994C>T (p.Ala2998=)
c.8547C>T (p.Ala2849=)
c.7884C>T (p.Ala2628=)
c.12399C>T (p.Ala4133=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13692062G>CCA443248723DNAH5n.1130C>G
c.13797C>G (p.Ala4599=)
c.13752C>G (p.Ala4584=)
c.13905C>G (p.Ala4635=)
c.13485C>G (p.Ala4495=)
c.12810C>G (p.Ala4270=)
c.8994C>G (p.Ala2998=)
c.8547C>G (p.Ala2849=)
c.7884C>G (p.Ala2628=)
c.12399C>G (p.Ala4133=)
5g.13692062G=CA1528395864DNAH5n.1130C=
c.13797C= (p.Ala4599=)
c.13752C= (p.Ala4584=)
c.13905C= (p.Ala4635=)
c.13485C= (p.Ala4495=)
c.12810C= (p.Ala4270=)
c.8994C= (p.Ala2998=)
c.8547C= (p.Ala2849=)
c.7884C= (p.Ala2628=)
c.12399C= (p.Ala4133=)
5g.13692062G>TCA443248724DNAH5n.1130C>A
c.13797C>A (p.Ala4599=)
c.13752C>A (p.Ala4584=)
c.13905C>A (p.Ala4635=)
c.13485C>A (p.Ala4495=)
c.12810C>A (p.Ala4270=)
c.8994C>A (p.Ala2998=)
c.8547C>A (p.Ala2849=)
c.7884C>A (p.Ala2628=)
c.12399C>A (p.Ala4133=)
5g.13692063G>ACA359188636DNAH5n.1129C>T
c.13796C>T (p.Ala4599Val)
c.13751C>T (p.Ala4584Val)
c.13904C>T (p.Ala4635Val)
c.13484C>T (p.Ala4495Val)
c.12809C>T (p.Ala4270Val)
c.8993C>T (p.Ala2998Val)
c.8546C>T (p.Ala2849Val)
c.7883C>T (p.Ala2628Val)
c.12398C>T (p.Ala4133Val)
 dbSNP gnomAD v4
5g.13692063G>CCA359188638DNAH5n.1129C>G
c.13796C>G (p.Ala4599Gly)
c.13751C>G (p.Ala4584Gly)
c.13904C>G (p.Ala4635Gly)
c.13484C>G (p.Ala4495Gly)
c.12809C>G (p.Ala4270Gly)
c.8993C>G (p.Ala2998Gly)
c.8546C>G (p.Ala2849Gly)
c.7883C>G (p.Ala2628Gly)
c.12398C>G (p.Ala4133Gly)
5g.13692063G=CA1528395865DNAH5n.1129C=
c.13796C= (p.Ala4599=)
c.13751C= (p.Ala4584=)
c.13904C= (p.Ala4635=)
c.13484C= (p.Ala4495=)
c.12809C= (p.Ala4270=)
c.8993C= (p.Ala2998=)
c.8546C= (p.Ala2849=)
c.7883C= (p.Ala2628=)
c.12398C= (p.Ala4133=)
5g.13692063G>TCA359188637DNAH5n.1129C>A
c.13796C>A (p.Ala4599Asp)
c.13751C>A (p.Ala4584Asp)
c.13904C>A (p.Ala4635Asp)
c.13484C>A (p.Ala4495Asp)
c.12809C>A (p.Ala4270Asp)
c.8993C>A (p.Ala2998Asp)
c.8546C>A (p.Ala2849Asp)
c.7883C>A (p.Ala2628Asp)
c.12398C>A (p.Ala4133Asp)
5g.13692064C>ACA359188639DNAH5n.1128G>T
c.13795G>T (p.Ala4599Ser)
c.13750G>T (p.Ala4584Ser)
c.13903G>T (p.Ala4635Ser)
c.13483G>T (p.Ala4495Ser)
c.12808G>T (p.Ala4270Ser)
c.8992G>T (p.Ala2998Ser)
c.8545G>T (p.Ala2849Ser)
c.7882G>T (p.Ala2628Ser)
c.12397G>T (p.Ala4133Ser)
5g.13692064C>GCA359188640DNAH5n.1128G>C
c.13795G>C (p.Ala4599Pro)
c.13750G>C (p.Ala4584Pro)
c.13903G>C (p.Ala4635Pro)
c.13483G>C (p.Ala4495Pro)
c.12808G>C (p.Ala4270Pro)
c.8992G>C (p.Ala2998Pro)
c.8545G>C (p.Ala2849Pro)
c.7882G>C (p.Ala2628Pro)
c.12397G>C (p.Ala4133Pro)
5g.13692064C>TCA359188641DNAH5n.1128G>A
c.13795G>A (p.Ala4599Thr)
c.13750G>A (p.Ala4584Thr)
c.13903G>A (p.Ala4635Thr)
c.13483G>A (p.Ala4495Thr)
c.12808G>A (p.Ala4270Thr)
c.8992G>A (p.Ala2998Thr)
c.8545G>A (p.Ala2849Thr)
c.7882G>A (p.Ala2628Thr)
c.12397G>A (p.Ala4133Thr)
5g.13692065A>CCA359188642DNAH5n.1127T>G
c.13794T>G (p.Ile4598Met)
c.13749T>G (p.Ile4583Met)
c.13902T>G (p.Ile4634Met)
c.13482T>G (p.Ile4494Met)
c.12807T>G (p.Ile4269Met)
c.8991T>G (p.Ile2997Met)
c.8544T>G (p.Ile2848Met)
c.7881T>G (p.Ile2627Met)
c.12396T>G (p.Ile4132Met)
5g.13692065A>GCA443248726DNAH5n.1127T>C
c.13794T>C (p.Ile4598=)
c.13749T>C (p.Ile4583=)
c.13902T>C (p.Ile4634=)
c.13482T>C (p.Ile4494=)
c.12807T>C (p.Ile4269=)
c.8991T>C (p.Ile2997=)
c.8544T>C (p.Ile2848=)
c.7881T>C (p.Ile2627=)
c.12396T>C (p.Ile4132=)
 gnomAD v4
5g.13692065A>TCA443248728DNAH5n.1127T>A
c.13794T>A (p.Ile4598=)
c.13749T>A (p.Ile4583=)
c.13902T>A (p.Ile4634=)
c.13482T>A (p.Ile4494=)
c.12807T>A (p.Ile4269=)
c.8991T>A (p.Ile2997=)
c.8544T>A (p.Ile2848=)
c.7881T>A (p.Ile2627=)
c.12396T>A (p.Ile4132=)
5g.13692066A>CCA359188643DNAH5n.1126T>G
c.13793T>G (p.Ile4598Ser)
c.13748T>G (p.Ile4583Ser)
c.13901T>G (p.Ile4634Ser)
c.13481T>G (p.Ile4494Ser)
c.12806T>G (p.Ile4269Ser)
c.8990T>G (p.Ile2997Ser)
c.8543T>G (p.Ile2848Ser)
c.7880T>G (p.Ile2627Ser)
c.12395T>G (p.Ile4132Ser)
5g.13692066A>GCA359188645DNAH5n.1126T>C
c.13793T>C (p.Ile4598Thr)
c.13748T>C (p.Ile4583Thr)
c.13901T>C (p.Ile4634Thr)
c.13481T>C (p.Ile4494Thr)
c.12806T>C (p.Ile4269Thr)
c.8990T>C (p.Ile2997Thr)
c.8543T>C (p.Ile2848Thr)
c.7880T>C (p.Ile2627Thr)
c.12395T>C (p.Ile4132Thr)
5g.13692066A>TCA359188644DNAH5n.1126T>A
c.13793T>A (p.Ile4598Asn)
c.13748T>A (p.Ile4583Asn)
c.13901T>A (p.Ile4634Asn)
c.13481T>A (p.Ile4494Asn)
c.12806T>A (p.Ile4269Asn)
c.8990T>A (p.Ile2997Asn)
c.8543T>A (p.Ile2848Asn)
c.7880T>A (p.Ile2627Asn)
c.12395T>A (p.Ile4132Asn)
5g.13692067T>ACA359188646DNAH5n.1125A>T
c.13792A>T (p.Ile4598Phe)
c.13747A>T (p.Ile4583Phe)
c.13900A>T (p.Ile4634Phe)
c.13480A>T (p.Ile4494Phe)
c.12805A>T (p.Ile4269Phe)
c.8989A>T (p.Ile2997Phe)
c.8542A>T (p.Ile2848Phe)
c.7879A>T (p.Ile2627Phe)
c.12394A>T (p.Ile4132Phe)
 dbSNP
5g.13692067T>CCA3201240DNAH5n.1125A>G
c.13792A>G (p.Ile4598Val)
c.13747A>G (p.Ile4583Val)
c.13900A>G (p.Ile4634Val)
c.13480A>G (p.Ile4494Val)
c.12805A>G (p.Ile4269Val)
c.8989A>G (p.Ile2997Val)
c.8542A>G (p.Ile2848Val)
c.7879A>G (p.Ile2627Val)
c.12394A>G (p.Ile4132Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13692067T>GCA359188647DNAH5n.1125A>C
c.13792A>C (p.Ile4598Leu)
c.13747A>C (p.Ile4583Leu)
c.13900A>C (p.Ile4634Leu)
c.13480A>C (p.Ile4494Leu)
c.12805A>C (p.Ile4269Leu)
c.8989A>C (p.Ile2997Leu)
c.8542A>C (p.Ile2848Leu)
c.7879A>C (p.Ile2627Leu)
c.12394A>C (p.Ile4132Leu)
5g.13692067T=CA1528395866DNAH5n.1125A=
c.13792A= (p.Ile4598=)
c.13747A= (p.Ile4583=)
c.13900A= (p.Ile4634=)
c.13480A= (p.Ile4494=)
c.12805A= (p.Ile4269=)
c.8989A= (p.Ile2997=)
c.8542A= (p.Ile2848=)
c.7879A= (p.Ile2627=)
c.12394A= (p.Ile4132=)
5g.13692068G>ACA443248731DNAH5n.1124C>T
c.13791C>T (p.Tyr4597=)
c.13746C>T (p.Tyr4582=)
c.13899C>T (p.Tyr4633=)
c.13479C>T (p.Tyr4493=)
c.12804C>T (p.Tyr4268=)
c.8988C>T (p.Tyr2996=)
c.8541C>T (p.Tyr2847=)
c.7878C>T (p.Tyr2626=)
c.12393C>T (p.Tyr4131=)
 ClinVar dbSNP
5g.13692068G>CCA359188648DNAH5n.1124C>G
c.13791C>G (p.Tyr4597Ter)
c.13746C>G (p.Tyr4582Ter)
c.13899C>G (p.Tyr4633Ter)
c.13479C>G (p.Tyr4493Ter)
c.12804C>G (p.Tyr4268Ter)
c.8988C>G (p.Tyr2996Ter)
c.8541C>G (p.Tyr2847Ter)
c.7878C>G (p.Tyr2626Ter)
c.12393C>G (p.Tyr4131Ter)
5g.13692068G=CA1528395867DNAH5n.1124C=
c.13791C= (p.Tyr4597=)
c.13746C= (p.Tyr4582=)
c.13899C= (p.Tyr4633=)
c.13479C= (p.Tyr4493=)
c.12804C= (p.Tyr4268=)
c.8988C= (p.Tyr2996=)
c.8541C= (p.Tyr2847=)
c.7878C= (p.Tyr2626=)
c.12393C= (p.Tyr4131=)
5g.13692068G>TCA359188649DNAH5n.1124C>A
c.13791C>A (p.Tyr4597Ter)
c.13746C>A (p.Tyr4582Ter)
c.13899C>A (p.Tyr4633Ter)
c.13479C>A (p.Tyr4493Ter)
c.12804C>A (p.Tyr4268Ter)
c.8988C>A (p.Tyr2996Ter)
c.8541C>A (p.Tyr2847Ter)
c.7878C>A (p.Tyr2626Ter)
c.12393C>A (p.Tyr4131Ter)
5g.13692069T>ACA359188650DNAH5n.1123A>T
c.13790A>T (p.Tyr4597Phe)
c.13745A>T (p.Tyr4582Phe)
c.13898A>T (p.Tyr4633Phe)
c.13478A>T (p.Tyr4493Phe)
c.12803A>T (p.Tyr4268Phe)
c.8987A>T (p.Tyr2996Phe)
c.8540A>T (p.Tyr2847Phe)
c.7877A>T (p.Tyr2626Phe)
c.12392A>T (p.Tyr4131Phe)
5g.13692069T>CCA359188651DNAH5n.1123A>G
c.13790A>G (p.Tyr4597Cys)
c.13745A>G (p.Tyr4582Cys)
c.13898A>G (p.Tyr4633Cys)
c.13478A>G (p.Tyr4493Cys)
c.12803A>G (p.Tyr4268Cys)
c.8987A>G (p.Tyr2996Cys)
c.8540A>G (p.Tyr2847Cys)
c.7877A>G (p.Tyr2626Cys)
c.12392A>G (p.Tyr4131Cys)
5g.13692069T>GCA359188652DNAH5n.1123A>C
c.13790A>C (p.Tyr4597Ser)
c.13745A>C (p.Tyr4582Ser)
c.13898A>C (p.Tyr4633Ser)
c.13478A>C (p.Tyr4493Ser)
c.12803A>C (p.Tyr4268Ser)
c.8987A>C (p.Tyr2996Ser)
c.8540A>C (p.Tyr2847Ser)
c.7877A>C (p.Tyr2626Ser)
c.12392A>C (p.Tyr4131Ser)
5g.13692070A>CCA359188653DNAH5n.1122T>G
c.13789T>G (p.Tyr4597Asp)
c.13744T>G (p.Tyr4582Asp)
c.13897T>G (p.Tyr4633Asp)
c.13477T>G (p.Tyr4493Asp)
c.12802T>G (p.Tyr4268Asp)
c.8986T>G (p.Tyr2996Asp)
c.8539T>G (p.Tyr2847Asp)
c.7876T>G (p.Tyr2626Asp)
c.12391T>G (p.Tyr4131Asp)
5g.13692070A>GCA359188654DNAH5n.1122T>C
c.13789T>C (p.Tyr4597His)
c.13744T>C (p.Tyr4582His)
c.13897T>C (p.Tyr4633His)
c.13477T>C (p.Tyr4493His)
c.12802T>C (p.Tyr4268His)
c.8986T>C (p.Tyr2996His)
c.8539T>C (p.Tyr2847His)
c.7876T>C (p.Tyr2626His)
c.12391T>C (p.Tyr4131His)
5g.13692070A>TCA359188655DNAH5n.1122T>A
c.13789T>A (p.Tyr4597Asn)
c.13744T>A (p.Tyr4582Asn)
c.13897T>A (p.Tyr4633Asn)
c.13477T>A (p.Tyr4493Asn)
c.12802T>A (p.Tyr4268Asn)
c.8986T>A (p.Tyr2996Asn)
c.8539T>A (p.Tyr2847Asn)
c.7876T>A (p.Tyr2626Asn)
c.12391T>A (p.Tyr4131Asn)
5g.13692071G>ACA443248736DNAH5n.1121C>T
c.13788C>T (p.Asn4596=)
c.13743C>T (p.Asn4581=)
c.13896C>T (p.Asn4632=)
c.13476C>T (p.Asn4492=)
c.12801C>T (p.Asn4267=)
c.8985C>T (p.Asn2995=)
c.8538C>T (p.Asn2846=)
c.7875C>T (p.Asn2625=)
c.12390C>T (p.Asn4130=)
 gnomAD v4
5g.13692071G>CCA359188656DNAH5n.1121C>G
c.13788C>G (p.Asn4596Lys)
c.13743C>G (p.Asn4581Lys)
c.13896C>G (p.Asn4632Lys)
c.13476C>G (p.Asn4492Lys)
c.12801C>G (p.Asn4267Lys)
c.8985C>G (p.Asn2995Lys)
c.8538C>G (p.Asn2846Lys)
c.7875C>G (p.Asn2625Lys)
c.12390C>G (p.Asn4130Lys)
5g.13692071G>TCA359188657DNAH5n.1121C>A
c.13788C>A (p.Asn4596Lys)
c.13743C>A (p.Asn4581Lys)
c.13896C>A (p.Asn4632Lys)
c.13476C>A (p.Asn4492Lys)
c.12801C>A (p.Asn4267Lys)
c.8985C>A (p.Asn2995Lys)
c.8538C>A (p.Asn2846Lys)
c.7875C>A (p.Asn2625Lys)
c.12390C>A (p.Asn4130Lys)
5g.13692071_13692074delCA2673266103DNAH5n.1118_1121del
c.13785_13788del (p.Leu4595PhefsTer?)
c.13740_13743del (p.Leu4580PhefsTer?)
c.13893_13896del (p.Leu4631PhefsTer?)
c.13473_13476del (p.Leu4491PhefsTer?)
c.12798_12801del (p.Leu4266PhefsTer?)
c.8982_8985del (p.Leu2994PhefsTer?)
c.8535_8538del (p.Leu2845PhefsTer?)
c.7872_7875del (p.Leu2624PhefsTer?)
c.12387_12390del (p.Leu4129PhefsTer?)
 gnomAD v4
5g.13692072T>ACA359188659DNAH5n.1120A>T
c.13787A>T (p.Asn4596Ile)
c.13742A>T (p.Asn4581Ile)
c.13895A>T (p.Asn4632Ile)
c.13475A>T (p.Asn4492Ile)
c.12800A>T (p.Asn4267Ile)
c.8984A>T (p.Asn2995Ile)
c.8537A>T (p.Asn2846Ile)
c.7874A>T (p.Asn2625Ile)
c.12389A>T (p.Asn4130Ile)
5g.13692072T>CCA359188660DNAH5n.1120A>G
c.13787A>G (p.Asn4596Ser)
c.13742A>G (p.Asn4581Ser)
c.13895A>G (p.Asn4632Ser)
c.13475A>G (p.Asn4492Ser)
c.12800A>G (p.Asn4267Ser)
c.8984A>G (p.Asn2995Ser)
c.8537A>G (p.Asn2846Ser)
c.7874A>G (p.Asn2625Ser)
c.12389A>G (p.Asn4130Ser)
5g.13692072T>GCA359188658DNAH5n.1120A>C
c.13787A>C (p.Asn4596Thr)
c.13742A>C (p.Asn4581Thr)
c.13895A>C (p.Asn4632Thr)
c.13475A>C (p.Asn4492Thr)
c.12800A>C (p.Asn4267Thr)
c.8984A>C (p.Asn2995Thr)
c.8537A>C (p.Asn2846Thr)
c.7874A>C (p.Asn2625Thr)
c.12389A>C (p.Asn4130Thr)
5g.13692073T>ACA359188661DNAH5n.1119A>T
c.13786A>T (p.Asn4596Tyr)
c.13741A>T (p.Asn4581Tyr)
c.13894A>T (p.Asn4632Tyr)
c.13474A>T (p.Asn4492Tyr)
c.12799A>T (p.Asn4267Tyr)
c.8983A>T (p.Asn2995Tyr)
c.8536A>T (p.Asn2846Tyr)
c.7873A>T (p.Asn2625Tyr)
c.12388A>T (p.Asn4130Tyr)
5g.13692073T>CCA359188662DNAH5n.1119A>G
c.13786A>G (p.Asn4596Asp)
c.13741A>G (p.Asn4581Asp)
c.13894A>G (p.Asn4632Asp)
c.13474A>G (p.Asn4492Asp)
c.12799A>G (p.Asn4267Asp)
c.8983A>G (p.Asn2995Asp)
c.8536A>G (p.Asn2846Asp)
c.7873A>G (p.Asn2625Asp)
c.12388A>G (p.Asn4130Asp)
5g.13692073T>GCA359188663DNAH5n.1119A>C
c.13786A>C (p.Asn4596His)
c.13741A>C (p.Asn4581His)
c.13894A>C (p.Asn4632His)
c.13474A>C (p.Asn4492His)
c.12799A>C (p.Asn4267His)
c.8983A>C (p.Asn2995His)
c.8536A>C (p.Asn2846His)
c.7873A>C (p.Asn2625His)
c.12388A>C (p.Asn4130His)
5g.13692074C>ACA359188664DNAH5n.1118G>T
c.13785G>T (p.Leu4595Phe)
c.13740G>T (p.Leu4580Phe)
c.13893G>T (p.Leu4631Phe)
c.13473G>T (p.Leu4491Phe)
c.12798G>T (p.Leu4266Phe)
c.8982G>T (p.Leu2994Phe)
c.8535G>T (p.Leu2845Phe)
c.7872G>T (p.Leu2624Phe)
c.12387G>T (p.Leu4129Phe)
5g.13692074C>GCA359188665DNAH5n.1118G>C
c.13785G>C (p.Leu4595Phe)
c.13740G>C (p.Leu4580Phe)
c.13893G>C (p.Leu4631Phe)
c.13473G>C (p.Leu4491Phe)
c.12798G>C (p.Leu4266Phe)
c.8982G>C (p.Leu2994Phe)
c.8535G>C (p.Leu2845Phe)
c.7872G>C (p.Leu2624Phe)
c.12387G>C (p.Leu4129Phe)
5g.13692074C>TCA443248738DNAH5n.1118G>A
c.13785G>A (p.Leu4595=)
c.13740G>A (p.Leu4580=)
c.13893G>A (p.Leu4631=)
c.13473G>A (p.Leu4491=)
c.12798G>A (p.Leu4266=)
c.8982G>A (p.Leu2994=)
c.8535G>A (p.Leu2845=)
c.7872G>A (p.Leu2624=)
c.12387G>A (p.Leu4129=)
5g.13692075A>CCA359188668DNAH5n.1117T>G
c.13784T>G (p.Leu4595Trp)
c.13739T>G (p.Leu4580Trp)
c.13892T>G (p.Leu4631Trp)
c.13472T>G (p.Leu4491Trp)
c.12797T>G (p.Leu4266Trp)
c.8981T>G (p.Leu2994Trp)
c.8534T>G (p.Leu2845Trp)
c.7871T>G (p.Leu2624Trp)
c.12386T>G (p.Leu4129Trp)
5g.13692075A>GCA359188667DNAH5n.1117T>C
c.13784T>C (p.Leu4595Ser)
c.13739T>C (p.Leu4580Ser)
c.13892T>C (p.Leu4631Ser)
c.13472T>C (p.Leu4491Ser)
c.12797T>C (p.Leu4266Ser)
c.8981T>C (p.Leu2994Ser)
c.8534T>C (p.Leu2845Ser)
c.7871T>C (p.Leu2624Ser)
c.12386T>C (p.Leu4129Ser)
5g.13692075A>TCA359188666DNAH5n.1117T>A
c.13784T>A (p.Leu4595Ter)
c.13739T>A (p.Leu4580Ter)
c.13892T>A (p.Leu4631Ter)
c.13472T>A (p.Leu4491Ter)
c.12797T>A (p.Leu4266Ter)
c.8981T>A (p.Leu2994Ter)
c.8534T>A (p.Leu2845Ter)
c.7871T>A (p.Leu2624Ter)
c.12386T>A (p.Leu4129Ter)
5g.13692076A>CCA359188669DNAH5n.1116T>G
c.13783T>G (p.Leu4595Val)
c.13738T>G (p.Leu4580Val)
c.13891T>G (p.Leu4631Val)
c.13471T>G (p.Leu4491Val)
c.12796T>G (p.Leu4266Val)
c.8980T>G (p.Leu2994Val)
c.8533T>G (p.Leu2845Val)
c.7870T>G (p.Leu2624Val)
c.12385T>G (p.Leu4129Val)
5g.13692076A>GCA443248743DNAH5n.1116T>C
c.13783T>C (p.Leu4595=)
c.13738T>C (p.Leu4580=)
c.13891T>C (p.Leu4631=)
c.13471T>C (p.Leu4491=)
c.12796T>C (p.Leu4266=)
c.8980T>C (p.Leu2994=)
c.8533T>C (p.Leu2845=)
c.7870T>C (p.Leu2624=)
c.12385T>C (p.Leu4129=)
5g.13692076A>TCA359188670DNAH5n.1116T>A
c.13783T>A (p.Leu4595Met)
c.13738T>A (p.Leu4580Met)
c.13891T>A (p.Leu4631Met)
c.13471T>A (p.Leu4491Met)
c.12796T>A (p.Leu4266Met)
c.8980T>A (p.Leu2994Met)
c.8533T>A (p.Leu2845Met)
c.7870T>A (p.Leu2624Met)
c.12385T>A (p.Leu4129Met)
5g.13692077G>ACA443248744DNAH5n.1115C>T
c.13782C>T (p.Asp4594=)
c.13737C>T (p.Asp4579=)
c.13890C>T (p.Asp4630=)
c.13470C>T (p.Asp4490=)
c.12795C>T (p.Asp4265=)
c.8979C>T (p.Asp2993=)
c.8532C>T (p.Asp2844=)
c.7869C>T (p.Asp2623=)
c.12384C>T (p.Asp4128=)
 gnomAD v4
5g.13692077G>CCA359188671DNAH5n.1115C>G
c.13782C>G (p.Asp4594Glu)
c.13737C>G (p.Asp4579Glu)
c.13890C>G (p.Asp4630Glu)
c.13470C>G (p.Asp4490Glu)
c.12795C>G (p.Asp4265Glu)
c.8979C>G (p.Asp2993Glu)
c.8532C>G (p.Asp2844Glu)
c.7869C>G (p.Asp2623Glu)
c.12384C>G (p.Asp4128Glu)
5g.13692077G>TCA359188672DNAH5n.1115C>A
c.13782C>A (p.Asp4594Glu)
c.13737C>A (p.Asp4579Glu)
c.13890C>A (p.Asp4630Glu)
c.13470C>A (p.Asp4490Glu)
c.12795C>A (p.Asp4265Glu)
c.8979C>A (p.Asp2993Glu)
c.8532C>A (p.Asp2844Glu)
c.7869C>A (p.Asp2623Glu)
c.12384C>A (p.Asp4128Glu)
5g.13692078T>ACA359188673DNAH5n.1114A>T
c.13781A>T (p.Asp4594Val)
c.13736A>T (p.Asp4579Val)
c.13889A>T (p.Asp4630Val)
c.13469A>T (p.Asp4490Val)
c.12794A>T (p.Asp4265Val)
c.8978A>T (p.Asp2993Val)
c.8531A>T (p.Asp2844Val)
c.7868A>T (p.Asp2623Val)
c.12383A>T (p.Asp4128Val)
5g.13692078T>CCA359188674DNAH5n.1114A>G
c.13781A>G (p.Asp4594Gly)
c.13736A>G (p.Asp4579Gly)
c.13889A>G (p.Asp4630Gly)
c.13469A>G (p.Asp4490Gly)
c.12794A>G (p.Asp4265Gly)
c.8978A>G (p.Asp2993Gly)
c.8531A>G (p.Asp2844Gly)
c.7868A>G (p.Asp2623Gly)
c.12383A>G (p.Asp4128Gly)
5g.13692078T>GCA359188675DNAH5n.1114A>C
c.13781A>C (p.Asp4594Ala)
c.13736A>C (p.Asp4579Ala)
c.13889A>C (p.Asp4630Ala)
c.13469A>C (p.Asp4490Ala)
c.12794A>C (p.Asp4265Ala)
c.8978A>C (p.Asp2993Ala)
c.8531A>C (p.Asp2844Ala)
c.7868A>C (p.Asp2623Ala)
c.12383A>C (p.Asp4128Ala)
5g.13692079C>ACA3201241DNAH5n.1113G>T
c.13780G>T (p.Asp4594Tyr)
c.13735G>T (p.Asp4579Tyr)
c.13888G>T (p.Asp4630Tyr)
c.13468G>T (p.Asp4490Tyr)
c.12793G>T (p.Asp4265Tyr)
c.8977G>T (p.Asp2993Tyr)
c.8530G>T (p.Asp2844Tyr)
c.7867G>T (p.Asp2623Tyr)
c.12382G>T (p.Asp4128Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13692079C=CA1528395868DNAH5n.1113G=
c.13780G= (p.Asp4594=)
c.13735G= (p.Asp4579=)
c.13888G= (p.Asp4630=)
c.13468G= (p.Asp4490=)
c.12793G= (p.Asp4265=)
c.8977G= (p.Asp2993=)
c.8530G= (p.Asp2844=)
c.7867G= (p.Asp2623=)
c.12382G= (p.Asp4128=)
5g.13692079C>GCA359188677DNAH5n.1113G>C
c.13780G>C (p.Asp4594His)
c.13735G>C (p.Asp4579His)
c.13888G>C (p.Asp4630His)
c.13468G>C (p.Asp4490His)
c.12793G>C (p.Asp4265His)
c.8977G>C (p.Asp2993His)
c.8530G>C (p.Asp2844His)
c.7867G>C (p.Asp2623His)
c.12382G>C (p.Asp4128His)
5g.13692079C>TCA359188676DNAH5n.1113G>A
c.13780G>A (p.Asp4594Asn)
c.13735G>A (p.Asp4579Asn)
c.13888G>A (p.Asp4630Asn)
c.13468G>A (p.Asp4490Asn)
c.12793G>A (p.Asp4265Asn)
c.8977G>A (p.Asp2993Asn)
c.8530G>A (p.Asp2844Asn)
c.7867G>A (p.Asp2623Asn)
c.12382G>A (p.Asp4128Asn)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
5g.13692080C>ACA443248748DNAH5n.1112G>T
c.13779G>T (p.Thr4593=)
c.13734G>T (p.Thr4578=)
c.13887G>T (p.Thr4629=)
c.13467G>T (p.Thr4489=)
c.12792G>T (p.Thr4264=)
c.8976G>T (p.Thr2992=)
c.8529G>T (p.Thr2843=)
c.7866G>T (p.Thr2622=)
c.12381G>T (p.Thr4127=)
 gnomAD v4
5g.13692080C=CA1528395869DNAH5n.1112G=
c.13779G= (p.Thr4593=)
c.13734G= (p.Thr4578=)
c.13887G= (p.Thr4629=)
c.13467G= (p.Thr4489=)
c.12792G= (p.Thr4264=)
c.8976G= (p.Thr2992=)
c.8529G= (p.Thr2843=)
c.7866G= (p.Thr2622=)
c.12381G= (p.Thr4127=)
5g.13692080C>GCA443248749DNAH5n.1112G>C
c.13779G>C (p.Thr4593=)
c.13734G>C (p.Thr4578=)
c.13887G>C (p.Thr4629=)
c.13467G>C (p.Thr4489=)
c.12792G>C (p.Thr4264=)
c.8976G>C (p.Thr2992=)
c.8529G>C (p.Thr2843=)
c.7866G>C (p.Thr2622=)
c.12381G>C (p.Thr4127=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13692080C>TCA3201242DNAH5n.1112G>A
c.13779G>A (p.Thr4593=)
c.13734G>A (p.Thr4578=)
c.13887G>A (p.Thr4629=)
c.13467G>A (p.Thr4489=)
c.12792G>A (p.Thr4264=)
c.8976G>A (p.Thr2992=)
c.8529G>A (p.Thr2843=)
c.7866G>A (p.Thr2622=)
c.12381G>A (p.Thr4127=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13692081G>ACA348633DNAH5n.1111C>T
c.13778C>T (p.Thr4593Met)
c.13733C>T (p.Thr4578Met)
c.13886C>T (p.Thr4629Met)
c.13466C>T (p.Thr4489Met)
c.12791C>T (p.Thr4264Met)
c.8975C>T (p.Thr2992Met)
c.8528C>T (p.Thr2843Met)
c.7865C>T (p.Thr2622Met)
c.12380C>T (p.Thr4127Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13692081G>CCA359188678DNAH5n.1111C>G
c.13778C>G (p.Thr4593Arg)
c.13733C>G (p.Thr4578Arg)
c.13886C>G (p.Thr4629Arg)
c.13466C>G (p.Thr4489Arg)
c.12791C>G (p.Thr4264Arg)
c.8975C>G (p.Thr2992Arg)
c.8528C>G (p.Thr2843Arg)
c.7865C>G (p.Thr2622Arg)
c.12380C>G (p.Thr4127Arg)
5g.13692081G=CA1528395870DNAH5n.1111C=
c.13778C= (p.Thr4593=)
c.13733C= (p.Thr4578=)
c.13886C= (p.Thr4629=)
c.13466C= (p.Thr4489=)
c.12791C= (p.Thr4264=)
c.8975C= (p.Thr2992=)
c.8528C= (p.Thr2843=)
c.7865C= (p.Thr2622=)
c.12380C= (p.Thr4127=)
5g.13692081G>TCA359188679DNAH5n.1111C>A
c.13778C>A (p.Thr4593Lys)
c.13733C>A (p.Thr4578Lys)
c.13886C>A (p.Thr4629Lys)
c.13466C>A (p.Thr4489Lys)
c.12791C>A (p.Thr4264Lys)
c.8975C>A (p.Thr2992Lys)
c.8528C>A (p.Thr2843Lys)
c.7865C>A (p.Thr2622Lys)
c.12380C>A (p.Thr4127Lys)
5g.13692082T>ACA3201243DNAH5n.1110A>T
c.13777A>T (p.Thr4593Ser)
c.13732A>T (p.Thr4578Ser)
c.13885A>T (p.Thr4629Ser)
c.13465A>T (p.Thr4489Ser)
c.12790A>T (p.Thr4264Ser)
c.8974A>T (p.Thr2992Ser)
c.8527A>T (p.Thr2843Ser)
c.7864A>T (p.Thr2622Ser)
c.12379A>T (p.Thr4127Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13692082T>CCA359188680DNAH5n.1110A>G
c.13777A>G (p.Thr4593Ala)
c.13732A>G (p.Thr4578Ala)
c.13885A>G (p.Thr4629Ala)
c.13465A>G (p.Thr4489Ala)
c.12790A>G (p.Thr4264Ala)
c.8974A>G (p.Thr2992Ala)
c.8527A>G (p.Thr2843Ala)
c.7864A>G (p.Thr2622Ala)
c.12379A>G (p.Thr4127Ala)
5g.13692082T>GCA359188681DNAH5n.1110A>C
c.13777A>C (p.Thr4593Pro)
c.13732A>C (p.Thr4578Pro)
c.13885A>C (p.Thr4629Pro)
c.13465A>C (p.Thr4489Pro)
c.12790A>C (p.Thr4264Pro)
c.8974A>C (p.Thr2992Pro)
c.8527A>C (p.Thr2843Pro)
c.7864A>C (p.Thr2622Pro)
c.12379A>C (p.Thr4127Pro)
5g.13692082T=CA1528395871DNAH5n.1110A=
c.13777A= (p.Thr4593=)
c.13732A= (p.Thr4578=)
c.13885A= (p.Thr4629=)
c.13465A= (p.Thr4489=)
c.12790A= (p.Thr4264=)
c.8974A= (p.Thr2992=)
c.8527A= (p.Thr2843=)
c.7864A= (p.Thr2622=)
c.12379A= (p.Thr4127=)
5g.13692083T>ACA443248754DNAH5n.1109A>T
c.13776A>T (p.Arg4592=)
c.13731A>T (p.Arg4577=)
c.13884A>T (p.Arg4628=)
c.13464A>T (p.Arg4488=)
c.12789A>T (p.Arg4263=)
c.8973A>T (p.Arg2991=)
c.8526A>T (p.Arg2842=)
c.7863A>T (p.Arg2621=)
c.12378A>T (p.Arg4126=)
5g.13692083T>CCA443248755DNAH5n.1109A>G
c.13776A>G (p.Arg4592=)
c.13731A>G (p.Arg4577=)
c.13884A>G (p.Arg4628=)
c.13464A>G (p.Arg4488=)
c.12789A>G (p.Arg4263=)
c.8973A>G (p.Arg2991=)
c.8526A>G (p.Arg2842=)
c.7863A>G (p.Arg2621=)
c.12378A>G (p.Arg4126=)
5g.13692083T>GCA443248757DNAH5n.1109A>C
c.13776A>C (p.Arg4592=)
c.13731A>C (p.Arg4577=)
c.13884A>C (p.Arg4628=)
c.13464A>C (p.Arg4488=)
c.12789A>C (p.Arg4263=)
c.8973A>C (p.Arg2991=)
c.8526A>C (p.Arg2842=)
c.7863A>C (p.Arg2621=)
c.12378A>C (p.Arg4126=)
5g.13692084C>ACA3201245DNAH5n.1108G>T
c.13775G>T (p.Arg4592Leu)
c.13730G>T (p.Arg4577Leu)
c.13883G>T (p.Arg4628Leu)
c.13463G>T (p.Arg4488Leu)
c.12788G>T (p.Arg4263Leu)
c.8972G>T (p.Arg2991Leu)
c.8525G>T (p.Arg2842Leu)
c.7862G>T (p.Arg2621Leu)
c.12377G>T (p.Arg4126Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.13692084C=CA1528395872DNAH5n.1108G=
c.13775G= (p.Arg4592=)
c.13730G= (p.Arg4577=)
c.13883G= (p.Arg4628=)
c.13463G= (p.Arg4488=)
c.12788G= (p.Arg4263=)
c.8972G= (p.Arg2991=)
c.8525G= (p.Arg2842=)
c.7862G= (p.Arg2621=)
c.12377G= (p.Arg4126=)
5g.13692084C>GCA359188682DNAH5n.1108G>C
c.13775G>C (p.Arg4592Pro)
c.13730G>C (p.Arg4577Pro)
c.13883G>C (p.Arg4628Pro)
c.13463G>C (p.Arg4488Pro)
c.12788G>C (p.Arg4263Pro)
c.8972G>C (p.Arg2991Pro)
c.8525G>C (p.Arg2842Pro)
c.7862G>C (p.Arg2621Pro)
c.12377G>C (p.Arg4126Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13692084C>TCA3201244DNAH5n.1108G>A
c.13775G>A (p.Arg4592Gln)
c.13730G>A (p.Arg4577Gln)
c.13883G>A (p.Arg4628Gln)
c.13463G>A (p.Arg4488Gln)
c.12788G>A (p.Arg4263Gln)
c.8972G>A (p.Arg2991Gln)
c.8525G>A (p.Arg2842Gln)
c.7862G>A (p.Arg2621Gln)
c.12377G>A (p.Arg4126Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13692085G>ACA3201246DNAH5n.1107C>T
c.13774C>T (p.Arg4592Ter)
c.13729C>T (p.Arg4577Ter)
c.13882C>T (p.Arg4628Ter)
c.13462C>T (p.Arg4488Ter)
c.12787C>T (p.Arg4263Ter)
c.8971C>T (p.Arg2991Ter)
c.8524C>T (p.Arg2842Ter)
c.7861C>T (p.Arg2621Ter)
c.12376C>T (p.Arg4126Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.13692085G>CCA359188683DNAH5n.1107C>G
c.13774C>G (p.Arg4592Gly)
c.13729C>G (p.Arg4577Gly)
c.13882C>G (p.Arg4628Gly)
c.13462C>G (p.Arg4488Gly)
c.12787C>G (p.Arg4263Gly)
c.8971C>G (p.Arg2991Gly)
c.8524C>G (p.Arg2842Gly)
c.7861C>G (p.Arg2621Gly)
c.12376C>G (p.Arg4126Gly)
 COSMIC
5g.13692085G=CA1528395873DNAH5n.1107C=
c.13774C= (p.Arg4592=)
c.13729C= (p.Arg4577=)
c.13882C= (p.Arg4628=)
c.13462C= (p.Arg4488=)
c.12787C= (p.Arg4263=)
c.8971C= (p.Arg2991=)
c.8524C= (p.Arg2842=)
c.7861C= (p.Arg2621=)
c.12376C= (p.Arg4126=)
5g.13692085G>TCA443248759DNAH5n.1107C>A
c.13774C>A (p.Arg4592=)
c.13729C>A (p.Arg4577=)
c.13882C>A (p.Arg4628=)
c.13462C>A (p.Arg4488=)
c.12787C>A (p.Arg4263=)
c.8971C>A (p.Arg2991=)
c.8524C>A (p.Arg2842=)
c.7861C>A (p.Arg2621=)
c.12376C>A (p.Arg4126=)
 ClinVar
5g.13692086A=CA1528395874DNAH5n.1106T=
c.13773T= (p.Val4591=)
c.13728T= (p.Val4576=)
c.13881T= (p.Val4627=)
c.13461T= (p.Val4487=)
c.12786T= (p.Val4262=)
c.8970T= (p.Val2990=)
c.8523T= (p.Val2841=)
c.7860T= (p.Val2620=)
c.12375T= (p.Val4125=)
5g.13692086A>CCA443248765DNAH5n.1106T>G
c.13773T>G (p.Val4591=)
c.13728T>G (p.Val4576=)
c.13881T>G (p.Val4627=)
c.13461T>G (p.Val4487=)
c.12786T>G (p.Val4262=)
c.8970T>G (p.Val2990=)
c.8523T>G (p.Val2841=)
c.7860T>G (p.Val2620=)
c.12375T>G (p.Val4125=)
 ClinVar dbSNP gnomAD v4
5g.13692086A>GCA443248764DNAH5n.1106T>C
c.13773T>C (p.Val4591=)
c.13728T>C (p.Val4576=)
c.13881T>C (p.Val4627=)
c.13461T>C (p.Val4487=)
c.12786T>C (p.Val4262=)
c.8970T>C (p.Val2990=)
c.8523T>C (p.Val2841=)
c.7860T>C (p.Val2620=)
c.12375T>C (p.Val4125=)
5g.13692086A>TCA443248761DNAH5n.1106T>A
c.13773T>A (p.Val4591=)
c.13728T>A (p.Val4576=)
c.13881T>A (p.Val4627=)
c.13461T>A (p.Val4487=)
c.12786T>A (p.Val4262=)
c.8970T>A (p.Val2990=)
c.8523T>A (p.Val2841=)
c.7860T>A (p.Val2620=)
c.12375T>A (p.Val4125=)
5g.13692087A>CCA359188686DNAH5n.1105T>G
c.13772T>G (p.Val4591Gly)
c.13727T>G (p.Val4576Gly)
c.13880T>G (p.Val4627Gly)
c.13460T>G (p.Val4487Gly)
c.12785T>G (p.Val4262Gly)
c.8969T>G (p.Val2990Gly)
c.8522T>G (p.Val2841Gly)
c.7859T>G (p.Val2620Gly)
c.12374T>G (p.Val4125Gly)
5g.13692087A>GCA359188684DNAH5n.1105T>C
c.13772T>C (p.Val4591Ala)
c.13727T>C (p.Val4576Ala)
c.13880T>C (p.Val4627Ala)
c.13460T>C (p.Val4487Ala)
c.12785T>C (p.Val4262Ala)
c.8969T>C (p.Val2990Ala)
c.8522T>C (p.Val2841Ala)
c.7859T>C (p.Val2620Ala)
c.12374T>C (p.Val4125Ala)
5g.13692087A>TCA359188685DNAH5n.1105T>A
c.13772T>A (p.Val4591Asp)
c.13727T>A (p.Val4576Asp)
c.13880T>A (p.Val4627Asp)
c.13460T>A (p.Val4487Asp)
c.12785T>A (p.Val4262Asp)
c.8969T>A (p.Val2990Asp)
c.8522T>A (p.Val2841Asp)
c.7859T>A (p.Val2620Asp)
c.12374T>A (p.Val4125Asp)
5g.13692088C>ACA359188687DNAH5n.1104G>T
c.13771G>T (p.Val4591Phe)
c.13726G>T (p.Val4576Phe)
c.13879G>T (p.Val4627Phe)
c.13459G>T (p.Val4487Phe)
c.12784G>T (p.Val4262Phe)
c.8968G>T (p.Val2990Phe)
c.8521G>T (p.Val2841Phe)
c.7858G>T (p.Val2620Phe)
c.12373G>T (p.Val4125Phe)
5g.13692088C=CA1528395875DNAH5n.1104G=
c.13771G= (p.Val4591=)
c.13726G= (p.Val4576=)
c.13879G= (p.Val4627=)
c.13459G= (p.Val4487=)
c.12784G= (p.Val4262=)
c.8968G= (p.Val2990=)
c.8521G= (p.Val2841=)
c.7858G= (p.Val2620=)
c.12373G= (p.Val4125=)
5g.13692088C>GCA359188688DNAH5n.1104G>C
c.13771G>C (p.Val4591Leu)
c.13726G>C (p.Val4576Leu)
c.13879G>C (p.Val4627Leu)
c.13459G>C (p.Val4487Leu)
c.12784G>C (p.Val4262Leu)
c.8968G>C (p.Val2990Leu)
c.8521G>C (p.Val2841Leu)
c.7858G>C (p.Val2620Leu)
c.12373G>C (p.Val4125Leu)
5g.13692088C>TCA359188689DNAH5n.1104G>A
c.13771G>A (p.Val4591Ile)
c.13726G>A (p.Val4576Ile)
c.13879G>A (p.Val4627Ile)
c.13459G>A (p.Val4487Ile)
c.12784G>A (p.Val4262Ile)
c.8968G>A (p.Val2990Ile)
c.8521G>A (p.Val2841Ile)
c.7858G>A (p.Val2620Ile)
c.12373G>A (p.Val4125Ile)
 dbSNP gnomAD v2 gnomAD v4
5g.13692089T>ACA443248769DNAH5n.1103A>T
c.13770A>T (p.Pro4590=)
c.13725A>T (p.Pro4575=)
c.13878A>T (p.Pro4626=)
c.13458A>T (p.Pro4486=)
c.12783A>T (p.Pro4261=)
c.8967A>T (p.Pro2989=)
c.8520A>T (p.Pro2840=)
c.7857A>T (p.Pro2619=)
c.12372A>T (p.Pro4124=)
5g.13692089T>CCA443248771DNAH5n.1103A>G
c.13770A>G (p.Pro4590=)
c.13725A>G (p.Pro4575=)
c.13878A>G (p.Pro4626=)
c.13458A>G (p.Pro4486=)
c.12783A>G (p.Pro4261=)
c.8967A>G (p.Pro2989=)
c.8520A>G (p.Pro2840=)
c.7857A>G (p.Pro2619=)
c.12372A>G (p.Pro4124=)
 gnomAD v4
5g.13692089T>GCA443248774DNAH5n.1103A>C
c.13770A>C (p.Pro4590=)
c.13725A>C (p.Pro4575=)
c.13878A>C (p.Pro4626=)
c.13458A>C (p.Pro4486=)
c.12783A>C (p.Pro4261=)
c.8967A>C (p.Pro2989=)
c.8520A>C (p.Pro2840=)
c.7857A>C (p.Pro2619=)
c.12372A>C (p.Pro4124=)
5g.13692090G>ACA359188690DNAH5n.1102C>T
c.13769C>T (p.Pro4590Leu)
c.13724C>T (p.Pro4575Leu)
c.13877C>T (p.Pro4626Leu)
c.13457C>T (p.Pro4486Leu)
c.12782C>T (p.Pro4261Leu)
c.8966C>T (p.Pro2989Leu)
c.8519C>T (p.Pro2840Leu)
c.7856C>T (p.Pro2619Leu)
c.12371C>T (p.Pro4124Leu)
5g.13692090G>CCA359188691DNAH5n.1102C>G
c.13769C>G (p.Pro4590Arg)
c.13724C>G (p.Pro4575Arg)
c.13877C>G (p.Pro4626Arg)
c.13457C>G (p.Pro4486Arg)
c.12782C>G (p.Pro4261Arg)
c.8966C>G (p.Pro2989Arg)
c.8519C>G (p.Pro2840Arg)
c.7856C>G (p.Pro2619Arg)
c.12371C>G (p.Pro4124Arg)
5g.13692090G=CA1528395876DNAH5n.1102C=
c.13769C= (p.Pro4590=)
c.13724C= (p.Pro4575=)
c.13877C= (p.Pro4626=)
c.13457C= (p.Pro4486=)
c.12782C= (p.Pro4261=)
c.8966C= (p.Pro2989=)
c.8519C= (p.Pro2840=)
c.7856C= (p.Pro2619=)
c.12371C= (p.Pro4124=)
5g.13692090G>TCA3201247DNAH5n.1102C>A
c.13769C>A (p.Pro4590Gln)
c.13724C>A (p.Pro4575Gln)
c.13877C>A (p.Pro4626Gln)
c.13457C>A (p.Pro4486Gln)
c.12782C>A (p.Pro4261Gln)
c.8966C>A (p.Pro2989Gln)
c.8519C>A (p.Pro2840Gln)
c.7856C>A (p.Pro2619Gln)
c.12371C>A (p.Pro4124Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13692091G>ACA359188694DNAH5n.1101C>T
c.13768C>T (p.Pro4590Ser)
c.13723C>T (p.Pro4575Ser)
c.13876C>T (p.Pro4626Ser)
c.13456C>T (p.Pro4486Ser)
c.12781C>T (p.Pro4261Ser)
c.8965C>T (p.Pro2989Ser)
c.8518C>T (p.Pro2840Ser)
c.7855C>T (p.Pro2619Ser)
c.12370C>T (p.Pro4124Ser)
 COSMIC
5g.13692091G>CCA359188692DNAH5n.1101C>G
c.13768C>G (p.Pro4590Ala)
c.13723C>G (p.Pro4575Ala)
c.13876C>G (p.Pro4626Ala)
c.13456C>G (p.Pro4486Ala)
c.12781C>G (p.Pro4261Ala)
c.8965C>G (p.Pro2989Ala)
c.8518C>G (p.Pro2840Ala)
c.7855C>G (p.Pro2619Ala)
c.12370C>G (p.Pro4124Ala)
 gnomAD v4
5g.13692091G>TCA359188693DNAH5n.1101C>A
c.13768C>A (p.Pro4590Thr)
c.13723C>A (p.Pro4575Thr)
c.13876C>A (p.Pro4626Thr)
c.13456C>A (p.Pro4486Thr)
c.12781C>A (p.Pro4261Thr)
c.8965C>A (p.Pro2989Thr)
c.8518C>A (p.Pro2840Thr)
c.7855C>A (p.Pro2619Thr)
c.12370C>A (p.Pro4124Thr)
5g.13692092C>ACA359188695DNAH5n.1100G>T
c.13767G>T (p.Lys4589Asn)
c.13722G>T (p.Lys4574Asn)
c.13875G>T (p.Lys4625Asn)
c.13455G>T (p.Lys4485Asn)
c.12780G>T (p.Lys4260Asn)
c.8964G>T (p.Lys2988Asn)
c.8517G>T (p.Lys2839Asn)
c.7854G>T (p.Lys2618Asn)
c.12369G>T (p.Lys4123Asn)
5g.13692092C>GCA359188696DNAH5n.1100G>C
c.13767G>C (p.Lys4589Asn)
c.13722G>C (p.Lys4574Asn)
c.13875G>C (p.Lys4625Asn)
c.13455G>C (p.Lys4485Asn)
c.12780G>C (p.Lys4260Asn)
c.8964G>C (p.Lys2988Asn)
c.8517G>C (p.Lys2839Asn)
c.7854G>C (p.Lys2618Asn)
c.12369G>C (p.Lys4123Asn)
5g.13692092C>TCA443248778DNAH5n.1100G>A
c.13767G>A (p.Lys4589=)
c.13722G>A (p.Lys4574=)
c.13875G>A (p.Lys4625=)
c.13455G>A (p.Lys4485=)
c.12780G>A (p.Lys4260=)
c.8964G>A (p.Lys2988=)
c.8517G>A (p.Lys2839=)
c.7854G>A (p.Lys2618=)
c.12369G>A (p.Lys4123=)
5g.13692093T>ACA359188697DNAH5n.1099A>T
c.13766A>T (p.Lys4589Met)
c.13721A>T (p.Lys4574Met)
c.13874A>T (p.Lys4625Met)
c.13454A>T (p.Lys4485Met)
c.12779A>T (p.Lys4260Met)
c.8963A>T (p.Lys2988Met)
c.8516A>T (p.Lys2839Met)
c.7853A>T (p.Lys2618Met)
c.12368A>T (p.Lys4123Met)
5g.13692093T>CCA359188698DNAH5n.1099A>G
c.13766A>G (p.Lys4589Arg)
c.13721A>G (p.Lys4574Arg)
c.13874A>G (p.Lys4625Arg)
c.13454A>G (p.Lys4485Arg)
c.12779A>G (p.Lys4260Arg)
c.8963A>G (p.Lys2988Arg)
c.8516A>G (p.Lys2839Arg)
c.7853A>G (p.Lys2618Arg)
c.12368A>G (p.Lys4123Arg)
 gnomAD v4
5g.13692093T>GCA359188699DNAH5n.1099A>C
c.13766A>C (p.Lys4589Thr)
c.13721A>C (p.Lys4574Thr)
c.13874A>C (p.Lys4625Thr)
c.13454A>C (p.Lys4485Thr)
c.12779A>C (p.Lys4260Thr)
c.8963A>C (p.Lys2988Thr)
c.8516A>C (p.Lys2839Thr)
c.7853A>C (p.Lys2618Thr)
c.12368A>C (p.Lys4123Thr)
 dbSNP gnomAD v2 gnomAD v4
5g.13692093T=CA1528395877DNAH5n.1099A=
c.13766A= (p.Lys4589=)
c.13721A= (p.Lys4574=)
c.13874A= (p.Lys4625=)
c.13454A= (p.Lys4485=)
c.12779A= (p.Lys4260=)
c.8963A= (p.Lys2988=)
c.8516A= (p.Lys2839=)
c.7853A= (p.Lys2618=)
c.12368A= (p.Lys4123=)
5g.13692094T>ACA359188702DNAH5n.1098A>T
c.13765A>T (p.Lys4589Ter)
c.13720A>T (p.Lys4574Ter)
c.13873A>T (p.Lys4625Ter)
c.13453A>T (p.Lys4485Ter)
c.12778A>T (p.Lys4260Ter)
c.8962A>T (p.Lys2988Ter)
c.8515A>T (p.Lys2839Ter)
c.7852A>T (p.Lys2618Ter)
c.12367A>T (p.Lys4123Ter)
5g.13692094T>CCA359188700DNAH5n.1098A>G
c.13765A>G (p.Lys4589Glu)
c.13720A>G (p.Lys4574Glu)
c.13873A>G (p.Lys4625Glu)
c.13453A>G (p.Lys4485Glu)
c.12778A>G (p.Lys4260Glu)
c.8962A>G (p.Lys2988Glu)
c.8515A>G (p.Lys2839Glu)
c.7852A>G (p.Lys2618Glu)
c.12367A>G (p.Lys4123Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13692094T>GCA359188701DNAH5n.1098A>C
c.13765A>C (p.Lys4589Gln)
c.13720A>C (p.Lys4574Gln)
c.13873A>C (p.Lys4625Gln)
c.13453A>C (p.Lys4485Gln)
c.12778A>C (p.Lys4260Gln)
c.8962A>C (p.Lys2988Gln)
c.8515A>C (p.Lys2839Gln)
c.7852A>C (p.Lys2618Gln)
c.12367A>C (p.Lys4123Gln)
5g.13692094T=CA1528395878DNAH5n.1098A=
c.13765A= (p.Lys4589=)
c.13720A= (p.Lys4574=)
c.13873A= (p.Lys4625=)
c.13453A= (p.Lys4485=)
c.12778A= (p.Lys4260=)
c.8962A= (p.Lys2988=)
c.8515A= (p.Lys2839=)
c.7852A= (p.Lys2618=)
c.12367A= (p.Lys4123=)
5g.13692095C>ACA113905483DNAH5n.1097G>T
c.13764G>T (p.Lys4588Asn)
c.13719G>T (p.Lys4573Asn)
c.13872G>T (p.Lys4624Asn)
c.13452G>T (p.Lys4484Asn)
c.12777G>T (p.Lys4259Asn)
c.8961G>T (p.Lys2987Asn)
c.8514G>T (p.Lys2838Asn)
c.7851G>T (p.Lys2617Asn)
c.12366G>T (p.Lys4122Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13692095C=CA1528395879DNAH5n.1097G=
c.13764G= (p.Lys4588=)
c.13719G= (p.Lys4573=)
c.13872G= (p.Lys4624=)
c.13452G= (p.Lys4484=)
c.12777G= (p.Lys4259=)
c.8961G= (p.Lys2987=)
c.8514G= (p.Lys2838=)
c.7851G= (p.Lys2617=)
c.12366G= (p.Lys4122=)
5g.13692095C>GCA359188703DNAH5n.1097G>C
c.13764G>C (p.Lys4588Asn)
c.13719G>C (p.Lys4573Asn)
c.13872G>C (p.Lys4624Asn)
c.13452G>C (p.Lys4484Asn)
c.12777G>C (p.Lys4259Asn)
c.8961G>C (p.Lys2987Asn)
c.8514G>C (p.Lys2838Asn)
c.7851G>C (p.Lys2617Asn)
c.12366G>C (p.Lys4122Asn)
5g.13692095C>TCA443248782DNAH5n.1097G>A
c.13764G>A (p.Lys4588=)
c.13719G>A (p.Lys4573=)
c.13872G>A (p.Lys4624=)
c.13452G>A (p.Lys4484=)
c.12777G>A (p.Lys4259=)
c.8961G>A (p.Lys2987=)
c.8514G>A (p.Lys2838=)
c.7851G>A (p.Lys2617=)
c.12366G>A (p.Lys4122=)
 COSMIC
5g.13692096T>ACA359188704DNAH5n.1096A>T
c.13763A>T (p.Lys4588Met)
c.13718A>T (p.Lys4573Met)
c.13871A>T (p.Lys4624Met)
c.13451A>T (p.Lys4484Met)
c.12776A>T (p.Lys4259Met)
c.8960A>T (p.Lys2987Met)
c.8513A>T (p.Lys2838Met)
c.7850A>T (p.Lys2617Met)
c.12365A>T (p.Lys4122Met)
5g.13692096T>CCA359188705DNAH5n.1096A>G
c.13763A>G (p.Lys4588Arg)
c.13718A>G (p.Lys4573Arg)
c.13871A>G (p.Lys4624Arg)
c.13451A>G (p.Lys4484Arg)
c.12776A>G (p.Lys4259Arg)
c.8960A>G (p.Lys2987Arg)
c.8513A>G (p.Lys2838Arg)
c.7850A>G (p.Lys2617Arg)
c.12365A>G (p.Lys4122Arg)
 COSMIC
5g.13692096T>GCA359188706DNAH5n.1096A>C
c.13763A>C (p.Lys4588Thr)
c.13718A>C (p.Lys4573Thr)
c.13871A>C (p.Lys4624Thr)
c.13451A>C (p.Lys4484Thr)
c.12776A>C (p.Lys4259Thr)
c.8960A>C (p.Lys2987Thr)
c.8513A>C (p.Lys2838Thr)
c.7850A>C (p.Lys2617Thr)
c.12365A>C (p.Lys4122Thr)
5g.13692097T>ACA359188707DNAH5n.1095A>T
c.13762A>T (p.Lys4588Ter)
c.13717A>T (p.Lys4573Ter)
c.13870A>T (p.Lys4624Ter)
c.13450A>T (p.Lys4484Ter)
c.12775A>T (p.Lys4259Ter)
c.8959A>T (p.Lys2987Ter)
c.8512A>T (p.Lys2838Ter)
c.7849A>T (p.Lys2617Ter)
c.12364A>T (p.Lys4122Ter)
5g.13692097T>CCA359188708DNAH5n.1095A>G
c.13762A>G (p.Lys4588Glu)
c.13717A>G (p.Lys4573Glu)
c.13870A>G (p.Lys4624Glu)
c.13450A>G (p.Lys4484Glu)
c.12775A>G (p.Lys4259Glu)
c.8959A>G (p.Lys2987Glu)
c.8512A>G (p.Lys2838Glu)
c.7849A>G (p.Lys2617Glu)
c.12364A>G (p.Lys4122Glu)
5g.13692097T>GCA359188709DNAH5n.1095A>C
c.13762A>C (p.Lys4588Gln)
c.13717A>C (p.Lys4573Gln)
c.13870A>C (p.Lys4624Gln)
c.13450A>C (p.Lys4484Gln)
c.12775A>C (p.Lys4259Gln)
c.8959A>C (p.Lys2987Gln)
c.8512A>C (p.Lys2838Gln)
c.7849A>C (p.Lys2617Gln)
c.12364A>C (p.Lys4122Gln)
5g.13692098A>CCA359188710DNAH5n.1094T>G
c.13761T>G (p.Tyr4587Ter)
c.13716T>G (p.Tyr4572Ter)
c.13869T>G (p.Tyr4623Ter)
c.13449T>G (p.Tyr4483Ter)
c.12774T>G (p.Tyr4258Ter)
c.8958T>G (p.Tyr2986Ter)
c.8511T>G (p.Tyr2837Ter)
c.7848T>G (p.Tyr2616Ter)
c.12363T>G (p.Tyr4121Ter)
5g.13692098A>GCA443248783DNAH5n.1094T>C
c.13761T>C (p.Tyr4587=)
c.13716T>C (p.Tyr4572=)
c.13869T>C (p.Tyr4623=)
c.13449T>C (p.Tyr4483=)
c.12774T>C (p.Tyr4258=)
c.8958T>C (p.Tyr2986=)
c.8511T>C (p.Tyr2837=)
c.7848T>C (p.Tyr2616=)
c.12363T>C (p.Tyr4121=)
5g.13692098A>TCA359188711DNAH5n.1094T>A
c.13761T>A (p.Tyr4587Ter)
c.13716T>A (p.Tyr4572Ter)
c.13869T>A (p.Tyr4623Ter)
c.13449T>A (p.Tyr4483Ter)
c.12774T>A (p.Tyr4258Ter)
c.8958T>A (p.Tyr2986Ter)
c.8511T>A (p.Tyr2837Ter)
c.7848T>A (p.Tyr2616Ter)
c.12363T>A (p.Tyr4121Ter)
5g.13692099T>ACA359188712DNAH5n.1093A>T
c.13760A>T (p.Tyr4587Phe)
c.13715A>T (p.Tyr4572Phe)
c.13868A>T (p.Tyr4623Phe)
c.13448A>T (p.Tyr4483Phe)
c.12773A>T (p.Tyr4258Phe)
c.8957A>T (p.Tyr2986Phe)
c.8510A>T (p.Tyr2837Phe)
c.7847A>T (p.Tyr2616Phe)
c.12362A>T (p.Tyr4121Phe)
 dbSNP gnomAD v2 gnomAD v4
5g.13692099T>CCA359188713DNAH5n.1093A>G
c.13760A>G (p.Tyr4587Cys)
c.13715A>G (p.Tyr4572Cys)
c.13868A>G (p.Tyr4623Cys)
c.13448A>G (p.Tyr4483Cys)
c.12773A>G (p.Tyr4258Cys)
c.8957A>G (p.Tyr2986Cys)
c.8510A>G (p.Tyr2837Cys)
c.7847A>G (p.Tyr2616Cys)
c.12362A>G (p.Tyr4121Cys)
 ClinVar dbSNP
5g.13692099T>GCA359188714DNAH5n.1093A>C
c.13760A>C (p.Tyr4587Ser)
c.13715A>C (p.Tyr4572Ser)
c.13868A>C (p.Tyr4623Ser)
c.13448A>C (p.Tyr4483Ser)
c.12773A>C (p.Tyr4258Ser)
c.8957A>C (p.Tyr2986Ser)
c.8510A>C (p.Tyr2837Ser)
c.7847A>C (p.Tyr2616Ser)
c.12362A>C (p.Tyr4121Ser)
5g.13692099T=CA1528395880DNAH5n.1093A=
c.13760A= (p.Tyr4587=)
c.13715A= (p.Tyr4572=)
c.13868A= (p.Tyr4623=)
c.13448A= (p.Tyr4483=)
c.12773A= (p.Tyr4258=)
c.8957A= (p.Tyr2986=)
c.8510A= (p.Tyr2837=)
c.7847A= (p.Tyr2616=)
c.12362A= (p.Tyr4121=)
5g.13692100A>CCA359188715DNAH5n.1092T>G
c.13759T>G (p.Tyr4587Asp)
c.13714T>G (p.Tyr4572Asp)
c.13867T>G (p.Tyr4623Asp)
c.13447T>G (p.Tyr4483Asp)
c.12772T>G (p.Tyr4258Asp)
c.8956T>G (p.Tyr2986Asp)
c.8509T>G (p.Tyr2837Asp)
c.7846T>G (p.Tyr2616Asp)
c.12361T>G (p.Tyr4121Asp)
5g.13692100A>GCA359188717DNAH5n.1092T>C
c.13759T>C (p.Tyr4587His)
c.13714T>C (p.Tyr4572His)
c.13867T>C (p.Tyr4623His)
c.13447T>C (p.Tyr4483His)
c.12772T>C (p.Tyr4258His)
c.8956T>C (p.Tyr2986His)
c.8509T>C (p.Tyr2837His)
c.7846T>C (p.Tyr2616His)
c.12361T>C (p.Tyr4121His)
5g.13692100A>TCA359188716DNAH5n.1092T>A
c.13759T>A (p.Tyr4587Asn)
c.13714T>A (p.Tyr4572Asn)
c.13867T>A (p.Tyr4623Asn)
c.13447T>A (p.Tyr4483Asn)
c.12772T>A (p.Tyr4258Asn)
c.8956T>A (p.Tyr2986Asn)
c.8509T>A (p.Tyr2837Asn)
c.7846T>A (p.Tyr2616Asn)
c.12361T>A (p.Tyr4121Asn)
5g.13692101G>ACA443248787DNAH5n.1091C>T
c.13758C>T (p.Ile4586=)
c.13713C>T (p.Ile4571=)
c.13866C>T (p.Ile4622=)
c.13446C>T (p.Ile4482=)
c.12771C>T (p.Ile4257=)
c.8955C>T (p.Ile2985=)
c.8508C>T (p.Ile2836=)
c.7845C>T (p.Ile2615=)
c.12360C>T (p.Ile4120=)
 gnomAD v4
5g.13692101G>CCA359188718DNAH5n.1091C>G
c.13758C>G (p.Ile4586Met)
c.13713C>G (p.Ile4571Met)
c.13866C>G (p.Ile4622Met)
c.13446C>G (p.Ile4482Met)
c.12771C>G (p.Ile4257Met)
c.8955C>G (p.Ile2985Met)
c.8508C>G (p.Ile2836Met)
c.7845C>G (p.Ile2615Met)
c.12360C>G (p.Ile4120Met)
5g.13692101G>TCA443248785DNAH5n.1091C>A
c.13758C>A (p.Ile4586=)
c.13713C>A (p.Ile4571=)
c.13866C>A (p.Ile4622=)
c.13446C>A (p.Ile4482=)
c.12771C>A (p.Ile4257=)
c.8955C>A (p.Ile2985=)
c.8508C>A (p.Ile2836=)
c.7845C>A (p.Ile2615=)
c.12360C>A (p.Ile4120=)
5g.13692102A>CCA359188719DNAH5n.1090T>G
c.13757T>G (p.Ile4586Ser)
c.13712T>G (p.Ile4571Ser)
c.13865T>G (p.Ile4622Ser)
c.13445T>G (p.Ile4482Ser)
c.12770T>G (p.Ile4257Ser)
c.8954T>G (p.Ile2985Ser)
c.8507T>G (p.Ile2836Ser)
c.7844T>G (p.Ile2615Ser)
c.12359T>G (p.Ile4120Ser)
5g.13692102A>GCA359188720DNAH5n.1090T>C
c.13757T>C (p.Ile4586Thr)
c.13712T>C (p.Ile4571Thr)
c.13865T>C (p.Ile4622Thr)
c.13445T>C (p.Ile4482Thr)
c.12770T>C (p.Ile4257Thr)
c.8954T>C (p.Ile2985Thr)
c.8507T>C (p.Ile2836Thr)
c.7844T>C (p.Ile2615Thr)
c.12359T>C (p.Ile4120Thr)
5g.13692102A>TCA359188721DNAH5n.1090T>A
c.13757T>A (p.Ile4586Asn)
c.13712T>A (p.Ile4571Asn)
c.13865T>A (p.Ile4622Asn)
c.13445T>A (p.Ile4482Asn)
c.12770T>A (p.Ile4257Asn)
c.8954T>A (p.Ile2985Asn)
c.8507T>A (p.Ile2836Asn)
c.7844T>A (p.Ile2615Asn)
c.12359T>A (p.Ile4120Asn)
5g.13692103T>ACA359188722DNAH5n.1089A>T
c.13756A>T (p.Ile4586Phe)
c.13711A>T (p.Ile4571Phe)
c.13864A>T (p.Ile4622Phe)
c.13444A>T (p.Ile4482Phe)
c.12769A>T (p.Ile4257Phe)
c.8953A>T (p.Ile2985Phe)
c.8506A>T (p.Ile2836Phe)
c.7843A>T (p.Ile2615Phe)
c.12358A>T (p.Ile4120Phe)
5g.13692103T>CCA359188723DNAH5n.1089A>G
c.13756A>G (p.Ile4586Val)
c.13711A>G (p.Ile4571Val)
c.13864A>G (p.Ile4622Val)
c.13444A>G (p.Ile4482Val)
c.12769A>G (p.Ile4257Val)
c.8953A>G (p.Ile2985Val)
c.8506A>G (p.Ile2836Val)
c.7843A>G (p.Ile2615Val)
c.12358A>G (p.Ile4120Val)
5g.13692103T>GCA359188724DNAH5n.1089A>C
c.13756A>C (p.Ile4586Leu)
c.13711A>C (p.Ile4571Leu)
c.13864A>C (p.Ile4622Leu)
c.13444A>C (p.Ile4482Leu)
c.12769A>C (p.Ile4257Leu)
c.8953A>C (p.Ile2985Leu)
c.8506A>C (p.Ile2836Leu)
c.7843A>C (p.Ile2615Leu)
c.12358A>C (p.Ile4120Leu)
5g.13692104G>ACA443248788DNAH5n.1088C>T
c.13755C>T (p.Pro4585=)
c.13710C>T (p.Pro4570=)
c.13863C>T (p.Pro4621=)
c.13443C>T (p.Pro4481=)
c.12768C>T (p.Pro4256=)
c.8952C>T (p.Pro2984=)
c.8505C>T (p.Pro2835=)
c.7842C>T (p.Pro2614=)
c.12357C>T (p.Pro4119=)
5g.13692104G>CCA443248789DNAH5n.1088C>G
c.13755C>G (p.Pro4585=)
c.13710C>G (p.Pro4570=)
c.13863C>G (p.Pro4621=)
c.13443C>G (p.Pro4481=)
c.12768C>G (p.Pro4256=)
c.8952C>G (p.Pro2984=)
c.8505C>G (p.Pro2835=)
c.7842C>G (p.Pro2614=)
c.12357C>G (p.Pro4119=)
5g.13692104G>TCA443248791DNAH5n.1088C>A
c.13755C>A (p.Pro4585=)
c.13710C>A (p.Pro4570=)
c.13863C>A (p.Pro4621=)
c.13443C>A (p.Pro4481=)
c.12768C>A (p.Pro4256=)
c.8952C>A (p.Pro2984=)
c.8505C>A (p.Pro2835=)
c.7842C>A (p.Pro2614=)
c.12357C>A (p.Pro4119=)
5g.13692105G>ACA359188727DNAH5n.1087C>T
c.13754C>T (p.Pro4585Leu)
c.13709C>T (p.Pro4570Leu)
c.13862C>T (p.Pro4621Leu)
c.13442C>T (p.Pro4481Leu)
c.12767C>T (p.Pro4256Leu)
c.8951C>T (p.Pro2984Leu)
c.8504C>T (p.Pro2835Leu)
c.7841C>T (p.Pro2614Leu)
c.12356C>T (p.Pro4119Leu)
5g.13692105G>CCA359188725DNAH5n.1087C>G
c.13754C>G (p.Pro4585Arg)
c.13709C>G (p.Pro4570Arg)
c.13862C>G (p.Pro4621Arg)
c.13442C>G (p.Pro4481Arg)
c.12767C>G (p.Pro4256Arg)
c.8951C>G (p.Pro2984Arg)
c.8504C>G (p.Pro2835Arg)
c.7841C>G (p.Pro2614Arg)
c.12356C>G (p.Pro4119Arg)
 gnomAD v4
5g.13692105G>TCA359188726DNAH5n.1087C>A
c.13754C>A (p.Pro4585His)
c.13709C>A (p.Pro4570His)
c.13862C>A (p.Pro4621His)
c.13442C>A (p.Pro4481His)
c.12767C>A (p.Pro4256His)
c.8951C>A (p.Pro2984His)
c.8504C>A (p.Pro2835His)
c.7841C>A (p.Pro2614His)
c.12356C>A (p.Pro4119His)
5g.13692106G>ACA359188728DNAH5n.1086C>T
c.13753C>T (p.Pro4585Ser)
c.13708C>T (p.Pro4570Ser)
c.13861C>T (p.Pro4621Ser)
c.13441C>T (p.Pro4481Ser)
c.12766C>T (p.Pro4256Ser)
c.8950C>T (p.Pro2984Ser)
c.8503C>T (p.Pro2835Ser)
c.7840C>T (p.Pro2614Ser)
c.12355C>T (p.Pro4119Ser)
 ClinVar
5g.13692106G>CCA359188729DNAH5n.1086C>G
c.13753C>G (p.Pro4585Ala)
c.13708C>G (p.Pro4570Ala)
c.13861C>G (p.Pro4621Ala)
c.13441C>G (p.Pro4481Ala)
c.12766C>G (p.Pro4256Ala)
c.8950C>G (p.Pro2984Ala)
c.8503C>G (p.Pro2835Ala)
c.7840C>G (p.Pro2614Ala)
c.12355C>G (p.Pro4119Ala)
5g.13692106G=CA1528395881DNAH5n.1086C=
c.13753C= (p.Pro4585=)
c.13708C= (p.Pro4570=)
c.13861C= (p.Pro4621=)
c.13441C= (p.Pro4481=)
c.12766C= (p.Pro4256=)
c.8950C= (p.Pro2984=)
c.8503C= (p.Pro2835=)
c.7840C= (p.Pro2614=)
c.12355C= (p.Pro4119=)
5g.13692106G>TCA113905487DNAH5n.1086C>A
c.13753C>A (p.Pro4585Thr)
c.13708C>A (p.Pro4570Thr)
c.13861C>A (p.Pro4621Thr)
c.13441C>A (p.Pro4481Thr)
c.12766C>A (p.Pro4256Thr)
c.8950C>A (p.Pro2984Thr)
c.8503C>A (p.Pro2835Thr)
c.7840C>A (p.Pro2614Thr)
c.12355C>A (p.Pro4119Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13692107A=CA1528395882DNAH5n.1085T=
c.13752T= (p.Cys4584=)
c.13707T= (p.Cys4569=)
c.13860T= (p.Cys4620=)
c.13440T= (p.Cys4480=)
c.12765T= (p.Cys4255=)
c.8949T= (p.Cys2983=)
c.8502T= (p.Cys2834=)
c.7839T= (p.Cys2613=)
c.12354T= (p.Cys4118=)
5g.13692107A>CCA359188730DNAH5n.1085T>G
c.13752T>G (p.Cys4584Trp)
c.13707T>G (p.Cys4569Trp)
c.13860T>G (p.Cys4620Trp)
c.13440T>G (p.Cys4480Trp)
c.12765T>G (p.Cys4255Trp)
c.8949T>G (p.Cys2983Trp)
c.8502T>G (p.Cys2834Trp)
c.7839T>G (p.Cys2613Trp)
c.12354T>G (p.Cys4118Trp)
5g.13692107A>GCA443248792DNAH5n.1085T>C
c.13752T>C (p.Cys4584=)
c.13707T>C (p.Cys4569=)
c.13860T>C (p.Cys4620=)
c.13440T>C (p.Cys4480=)
c.12765T>C (p.Cys4255=)
c.8949T>C (p.Cys2983=)
c.8502T>C (p.Cys2834=)
c.7839T>C (p.Cys2613=)
c.12354T>C (p.Cys4118=)
 dbSNP
5g.13692107A>TCA359188731DNAH5n.1085T>A
c.13752T>A (p.Cys4584Ter)
c.13707T>A (p.Cys4569Ter)
c.13860T>A (p.Cys4620Ter)
c.13440T>A (p.Cys4480Ter)
c.12765T>A (p.Cys4255Ter)
c.8949T>A (p.Cys2983Ter)
c.8502T>A (p.Cys2834Ter)
c.7839T>A (p.Cys2613Ter)
c.12354T>A (p.Cys4118Ter)
5g.13692108C>ACA359188732DNAH5n.1084G>T
c.13751G>T (p.Cys4584Phe)
c.13706G>T (p.Cys4569Phe)
c.13859G>T (p.Cys4620Phe)
c.13439G>T (p.Cys4480Phe)
c.12764G>T (p.Cys4255Phe)
c.8948G>T (p.Cys2983Phe)
c.8501G>T (p.Cys2834Phe)
c.7838G>T (p.Cys2613Phe)
c.12353G>T (p.Cys4118Phe)
5g.13692108C>GCA359188734DNAH5n.1084G>C
c.13751G>C (p.Cys4584Ser)
c.13706G>C (p.Cys4569Ser)
c.13859G>C (p.Cys4620Ser)
c.13439G>C (p.Cys4480Ser)
c.12764G>C (p.Cys4255Ser)
c.8948G>C (p.Cys2983Ser)
c.8501G>C (p.Cys2834Ser)
c.7838G>C (p.Cys2613Ser)
c.12353G>C (p.Cys4118Ser)
5g.13692108C>TCA359188733DNAH5n.1084G>A
c.13751G>A (p.Cys4584Tyr)
c.13706G>A (p.Cys4569Tyr)
c.13859G>A (p.Cys4620Tyr)
c.13439G>A (p.Cys4480Tyr)
c.12764G>A (p.Cys4255Tyr)
c.8948G>A (p.Cys2983Tyr)
c.8501G>A (p.Cys2834Tyr)
c.7838G>A (p.Cys2613Tyr)
c.12353G>A (p.Cys4118Tyr)
 gnomAD v4
5g.13692109A=CA1528395883DNAH5n.1083T=
c.13750T= (p.Cys4584=)
c.13705T= (p.Cys4569=)
c.13858T= (p.Cys4620=)
c.13438T= (p.Cys4480=)
c.12763T= (p.Cys4255=)
c.8947T= (p.Cys2983=)
c.8500T= (p.Cys2834=)
c.7837T= (p.Cys2613=)
c.12352T= (p.Cys4118=)
5g.13692109A>CCA359188735DNAH5n.1083T>G
c.13750T>G (p.Cys4584Gly)
c.13705T>G (p.Cys4569Gly)
c.13858T>G (p.Cys4620Gly)
c.13438T>G (p.Cys4480Gly)
c.12763T>G (p.Cys4255Gly)
c.8947T>G (p.Cys2983Gly)
c.8500T>G (p.Cys2834Gly)
c.7837T>G (p.Cys2613Gly)
c.12352T>G (p.Cys4118Gly)
5g.13692109A>GCA3201248DNAH5n.1083T>C
c.13750T>C (p.Cys4584Arg)
c.13705T>C (p.Cys4569Arg)
c.13858T>C (p.Cys4620Arg)
c.13438T>C (p.Cys4480Arg)
c.12763T>C (p.Cys4255Arg)
c.8947T>C (p.Cys2983Arg)
c.8500T>C (p.Cys2834Arg)
c.7837T>C (p.Cys2613Arg)
c.12352T>C (p.Cys4118Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13692109A>TCA359188736DNAH5n.1083T>A
c.13750T>A (p.Cys4584Ser)
c.13705T>A (p.Cys4569Ser)
c.13858T>A (p.Cys4620Ser)
c.13438T>A (p.Cys4480Ser)
c.12763T>A (p.Cys4255Ser)
c.8947T>A (p.Cys2983Ser)
c.8500T>A (p.Cys2834Ser)
c.7837T>A (p.Cys2613Ser)
c.12352T>A (p.Cys4118Ser)
 COSMIC
5g.13692110G>ACA443248796DNAH5n.1082C>T
c.13749C>T (p.Ser4583=)
c.13704C>T (p.Ser4568=)
c.13857C>T (p.Ser4619=)
c.13437C>T (p.Ser4479=)
c.12762C>T (p.Ser4254=)
c.8946C>T (p.Ser2982=)
c.8499C>T (p.Ser2833=)
c.7836C>T (p.Ser2612=)
c.12351C>T (p.Ser4117=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.13692110G>CCA443248797DNAH5n.1082C>G
c.13749C>G (p.Ser4583=)
c.13704C>G (p.Ser4568=)
c.13857C>G (p.Ser4619=)
c.13437C>G (p.Ser4479=)
c.12762C>G (p.Ser4254=)
c.8946C>G (p.Ser2982=)
c.8499C>G (p.Ser2833=)
c.7836C>G (p.Ser2612=)
c.12351C>G (p.Ser4117=)
 ClinVar dbSNP
5g.13692110G=CA1528395884DNAH5n.1082C=
c.13749C= (p.Ser4583=)
c.13704C= (p.Ser4568=)
c.13857C= (p.Ser4619=)
c.13437C= (p.Ser4479=)
c.12762C= (p.Ser4254=)
c.8946C= (p.Ser2982=)
c.8499C= (p.Ser2833=)
c.7836C= (p.Ser2612=)
c.12351C= (p.Ser4117=)
5g.13692110G>TCA443248798DNAH5n.1082C>A
c.13749C>A (p.Ser4583=)
c.13704C>A (p.Ser4568=)
c.13857C>A (p.Ser4619=)
c.13437C>A (p.Ser4479=)
c.12762C>A (p.Ser4254=)
c.8946C>A (p.Ser2982=)
c.8499C>A (p.Ser2833=)
c.7836C>A (p.Ser2612=)
c.12351C>A (p.Ser4117=)
5g.13692111delCA2673266104DNAH5n.1082del
c.13749del (p.Cys4584ValfsTer12)
c.13704del (p.Cys4569ValfsTer12)
c.13857del (p.Cys4620ValfsTer12)
c.13437del (p.Cys4480ValfsTer12)
c.12762del (p.Cys4255ValfsTer12)
c.8946del (p.Cys2983ValfsTer12)
c.8499del (p.Cys2834ValfsTer12)
c.7836del (p.Cys2613ValfsTer12)
c.12351del (p.Cys4118ValfsTer12)
 gnomAD v4
5g.13692111G>ACA359188737DNAH5n.1081C>T
c.13748C>T (p.Ser4583Phe)
c.13703C>T (p.Ser4568Phe)
c.13856C>T (p.Ser4619Phe)
c.13436C>T (p.Ser4479Phe)
c.12761C>T (p.Ser4254Phe)
c.8945C>T (p.Ser2982Phe)
c.8498C>T (p.Ser2833Phe)
c.7835C>T (p.Ser2612Phe)
c.12350C>T (p.Ser4117Phe)
5g.13692111G>CCA359188738DNAH5n.1081C>G
c.13748C>G (p.Ser4583Cys)
c.13703C>G (p.Ser4568Cys)
c.13856C>G (p.Ser4619Cys)
c.13436C>G (p.Ser4479Cys)
c.12761C>G (p.Ser4254Cys)
c.8945C>G (p.Ser2982Cys)
c.8498C>G (p.Ser2833Cys)
c.7835C>G (p.Ser2612Cys)
c.12350C>G (p.Ser4117Cys)
 gnomAD v4
5g.13692111G=CA1528395885DNAH5n.1081C=
c.13748C= (p.Ser4583=)
c.13703C= (p.Ser4568=)
c.13856C= (p.Ser4619=)
c.13436C= (p.Ser4479=)
c.12761C= (p.Ser4254=)
c.8945C= (p.Ser2982=)
c.8498C= (p.Ser2833=)
c.7835C= (p.Ser2612=)
c.12350C= (p.Ser4117=)
5g.13692111G>TCA359188739DNAH5n.1081C>A
c.13748C>A (p.Ser4583Tyr)
c.13703C>A (p.Ser4568Tyr)
c.13856C>A (p.Ser4619Tyr)
c.13436C>A (p.Ser4479Tyr)
c.12761C>A (p.Ser4254Tyr)
c.8945C>A (p.Ser2982Tyr)
c.8498C>A (p.Ser2833Tyr)
c.7835C>A (p.Ser2612Tyr)
c.12350C>A (p.Ser4117Tyr)
 dbSNP gnomAD v4
5g.13692112A=CA1528395886DNAH5n.1080T=
c.13747T= (p.Ser4583=)
c.13702T= (p.Ser4568=)
c.13855T= (p.Ser4619=)
c.13435T= (p.Ser4479=)
c.12760T= (p.Ser4254=)
c.8944T= (p.Ser2982=)
c.8497T= (p.Ser2833=)
c.7834T= (p.Ser2612=)
c.12349T= (p.Ser4117=)
5g.13692112A>CCA359188740DNAH5n.1080T>G
c.13747T>G (p.Ser4583Ala)
c.13702T>G (p.Ser4568Ala)
c.13855T>G (p.Ser4619Ala)
c.13435T>G (p.Ser4479Ala)
c.12760T>G (p.Ser4254Ala)
c.8944T>G (p.Ser2982Ala)
c.8497T>G (p.Ser2833Ala)
c.7834T>G (p.Ser2612Ala)
c.12349T>G (p.Ser4117Ala)
5g.13692112A>GCA3201249DNAH5n.1080T>C
c.13747T>C (p.Ser4583Pro)
c.13702T>C (p.Ser4568Pro)
c.13855T>C (p.Ser4619Pro)
c.13435T>C (p.Ser4479Pro)
c.12760T>C (p.Ser4254Pro)
c.8944T>C (p.Ser2982Pro)
c.8497T>C (p.Ser2833Pro)
c.7834T>C (p.Ser2612Pro)
c.12349T>C (p.Ser4117Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13692112A>TCA359188741DNAH5n.1080T>A
c.13747T>A (p.Ser4583Thr)
c.13702T>A (p.Ser4568Thr)
c.13855T>A (p.Ser4619Thr)
c.13435T>A (p.Ser4479Thr)
c.12760T>A (p.Ser4254Thr)
c.8944T>A (p.Ser2982Thr)
c.8497T>A (p.Ser2833Thr)
c.7834T>A (p.Ser2612Thr)
c.12349T>A (p.Ser4117Thr)
5g.13692113G>ACA3201250DNAH5n.1079C>T
c.13746C>T (p.Tyr4582=)
c.13701C>T (p.Tyr4567=)
c.13854C>T (p.Tyr4618=)
c.13434C>T (p.Tyr4478=)
c.12759C>T (p.Tyr4253=)
c.8943C>T (p.Tyr2981=)
c.8496C>T (p.Tyr2832=)
c.7833C>T (p.Tyr2611=)
c.12348C>T (p.Tyr4116=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13692113G>CCA359188742DNAH5n.1079C>G
c.13746C>G (p.Tyr4582Ter)
c.13701C>G (p.Tyr4567Ter)
c.13854C>G (p.Tyr4618Ter)
c.13434C>G (p.Tyr4478Ter)
c.12759C>G (p.Tyr4253Ter)
c.8943C>G (p.Tyr2981Ter)
c.8496C>G (p.Tyr2832Ter)
c.7833C>G (p.Tyr2611Ter)
c.12348C>G (p.Tyr4116Ter)
5g.13692113G=CA1528395887DNAH5n.1079C=
c.13746C= (p.Tyr4582=)
c.13701C= (p.Tyr4567=)
c.13854C= (p.Tyr4618=)
c.13434C= (p.Tyr4478=)
c.12759C= (p.Tyr4253=)
c.8943C= (p.Tyr2981=)
c.8496C= (p.Tyr2832=)
c.7833C= (p.Tyr2611=)
c.12348C= (p.Tyr4116=)
5g.13692113G>TCA359188743DNAH5n.1079C>A
c.13746C>A (p.Tyr4582Ter)
c.13701C>A (p.Tyr4567Ter)
c.13854C>A (p.Tyr4618Ter)
c.13434C>A (p.Tyr4478Ter)
c.12759C>A (p.Tyr4253Ter)
c.8943C>A (p.Tyr2981Ter)
c.8496C>A (p.Tyr2832Ter)
c.7833C>A (p.Tyr2611Ter)
c.12348C>A (p.Tyr4116Ter)
 ClinVar dbSNP
5g.13692114T>ACA359188744DNAH5n.1078A>T
c.13745A>T (p.Tyr4582Phe)
c.13700A>T (p.Tyr4567Phe)
c.13853A>T (p.Tyr4618Phe)
c.13433A>T (p.Tyr4478Phe)
c.12758A>T (p.Tyr4253Phe)
c.8942A>T (p.Tyr2981Phe)
c.8495A>T (p.Tyr2832Phe)
c.7832A>T (p.Tyr2611Phe)
c.12347A>T (p.Tyr4116Phe)
5g.13692114T>CCA3201251DNAH5n.1078A>G
c.13745A>G (p.Tyr4582Cys)
c.13700A>G (p.Tyr4567Cys)
c.13853A>G (p.Tyr4618Cys)
c.13433A>G (p.Tyr4478Cys)
c.12758A>G (p.Tyr4253Cys)
c.8942A>G (p.Tyr2981Cys)
c.8495A>G (p.Tyr2832Cys)
c.7832A>G (p.Tyr2611Cys)
c.12347A>G (p.Tyr4116Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13692114T>GCA359188745DNAH5n.1078A>C
c.13745A>C (p.Tyr4582Ser)
c.13700A>C (p.Tyr4567Ser)
c.13853A>C (p.Tyr4618Ser)
c.13433A>C (p.Tyr4478Ser)
c.12758A>C (p.Tyr4253Ser)
c.8942A>C (p.Tyr2981Ser)
c.8495A>C (p.Tyr2832Ser)
c.7832A>C (p.Tyr2611Ser)
c.12347A>C (p.Tyr4116Ser)
5g.13692114T=CA1528395888DNAH5n.1078A=
c.13745A= (p.Tyr4582=)
c.13700A= (p.Tyr4567=)
c.13853A= (p.Tyr4618=)
c.13433A= (p.Tyr4478=)
c.12758A= (p.Tyr4253=)
c.8942A= (p.Tyr2981=)
c.8495A= (p.Tyr2832=)
c.7832A= (p.Tyr2611=)
c.12347A= (p.Tyr4116=)
5g.13692115A>CCA359188746DNAH5n.1077T>G
c.13744T>G (p.Tyr4582Asp)
c.13699T>G (p.Tyr4567Asp)
c.13852T>G (p.Tyr4618Asp)
c.13432T>G (p.Tyr4478Asp)
c.12757T>G (p.Tyr4253Asp)
c.8941T>G (p.Tyr2981Asp)
c.8494T>G (p.Tyr2832Asp)
c.7831T>G (p.Tyr2611Asp)
c.12346T>G (p.Tyr4116Asp)
5g.13692115A>GCA359188747DNAH5n.1077T>C
c.13744T>C (p.Tyr4582His)
c.13699T>C (p.Tyr4567His)
c.13852T>C (p.Tyr4618His)
c.13432T>C (p.Tyr4478His)
c.12757T>C (p.Tyr4253His)
c.8941T>C (p.Tyr2981His)
c.8494T>C (p.Tyr2832His)
c.7831T>C (p.Tyr2611His)
c.12346T>C (p.Tyr4116His)
 gnomAD v4
5g.13692115A>TCA359188748DNAH5n.1077T>A
c.13744T>A (p.Tyr4582Asn)
c.13699T>A (p.Tyr4567Asn)
c.13852T>A (p.Tyr4618Asn)
c.13432T>A (p.Tyr4478Asn)
c.12757T>A (p.Tyr4253Asn)
c.8941T>A (p.Tyr2981Asn)
c.8494T>A (p.Tyr2832Asn)
c.7831T>A (p.Tyr2611Asn)
c.12346T>A (p.Tyr4116Asn)
5g.13692116A>CCA359188749DNAH5n.1076T>G
c.13743T>G (p.Phe4581Leu)
c.13698T>G (p.Phe4566Leu)
c.13851T>G (p.Phe4617Leu)
c.13431T>G (p.Phe4477Leu)
c.12756T>G (p.Phe4252Leu)
c.8940T>G (p.Phe2980Leu)
c.8493T>G (p.Phe2831Leu)
c.7830T>G (p.Phe2610Leu)
c.12345T>G (p.Phe4115Leu)
5g.13692116A>GCA443248806DNAH5n.1076T>C
c.13743T>C (p.Phe4581=)
c.13698T>C (p.Phe4566=)
c.13851T>C (p.Phe4617=)
c.13431T>C (p.Phe4477=)
c.12756T>C (p.Phe4252=)
c.8940T>C (p.Phe2980=)
c.8493T>C (p.Phe2831=)
c.7830T>C (p.Phe2610=)
c.12345T>C (p.Phe4115=)
5g.13692116A>TCA359188750DNAH5n.1076T>A
c.13743T>A (p.Phe4581Leu)
c.13698T>A (p.Phe4566Leu)
c.13851T>A (p.Phe4617Leu)
c.13431T>A (p.Phe4477Leu)
c.12756T>A (p.Phe4252Leu)
c.8940T>A (p.Phe2980Leu)
c.8493T>A (p.Phe2831Leu)
c.7830T>A (p.Phe2610Leu)
c.12345T>A (p.Phe4115Leu)
5g.13692117A>CCA359188751DNAH5n.1075T>G
c.13742T>G (p.Phe4581Cys)
c.13697T>G (p.Phe4566Cys)
c.13850T>G (p.Phe4617Cys)
c.13430T>G (p.Phe4477Cys)
c.12755T>G (p.Phe4252Cys)
c.8939T>G (p.Phe2980Cys)
c.8492T>G (p.Phe2831Cys)
c.7829T>G (p.Phe2610Cys)
c.12344T>G (p.Phe4115Cys)
5g.13692117A>GCA359188752DNAH5n.1075T>C
c.13742T>C (p.Phe4581Ser)
c.13697T>C (p.Phe4566Ser)
c.13850T>C (p.Phe4617Ser)
c.13430T>C (p.Phe4477Ser)
c.12755T>C (p.Phe4252Ser)
c.8939T>C (p.Phe2980Ser)
c.8492T>C (p.Phe2831Ser)
c.7829T>C (p.Phe2610Ser)
c.12344T>C (p.Phe4115Ser)
5g.13692117A>TCA359188753DNAH5n.1075T>A
c.13742T>A (p.Phe4581Tyr)
c.13697T>A (p.Phe4566Tyr)
c.13850T>A (p.Phe4617Tyr)
c.13430T>A (p.Phe4477Tyr)
c.12755T>A (p.Phe4252Tyr)
c.8939T>A (p.Phe2980Tyr)
c.8492T>A (p.Phe2831Tyr)
c.7829T>A (p.Phe2610Tyr)
c.12344T>A (p.Phe4115Tyr)
5g.13692118A>CCA359188754DNAH5n.1074T>G
c.13741T>G (p.Phe4581Val)
c.13696T>G (p.Phe4566Val)
c.13849T>G (p.Phe4617Val)
c.13429T>G (p.Phe4477Val)
c.12754T>G (p.Phe4252Val)
c.8938T>G (p.Phe2980Val)
c.8491T>G (p.Phe2831Val)
c.7828T>G (p.Phe2610Val)
c.12343T>G (p.Phe4115Val)
5g.13692118A>GCA359188755DNAH5n.1074T>C
c.13741T>C (p.Phe4581Leu)
c.13696T>C (p.Phe4566Leu)
c.13849T>C (p.Phe4617Leu)
c.13429T>C (p.Phe4477Leu)
c.12754T>C (p.Phe4252Leu)
c.8938T>C (p.Phe2980Leu)
c.8491T>C (p.Phe2831Leu)
c.7828T>C (p.Phe2610Leu)
c.12343T>C (p.Phe4115Leu)
5g.13692118A>TCA359188756DNAH5n.1074T>A
c.13741T>A (p.Phe4581Ile)
c.13696T>A (p.Phe4566Ile)
c.13849T>A (p.Phe4617Ile)
c.13429T>A (p.Phe4477Ile)
c.12754T>A (p.Phe4252Ile)
c.8938T>A (p.Phe2980Ile)
c.8491T>A (p.Phe2831Ile)
c.7828T>A (p.Phe2610Ile)
c.12343T>A (p.Phe4115Ile)
5g.13692119C>ACA443248807DNAH5n.1073G>T
c.13740G>T (p.Arg4580=)
c.13695G>T (p.Arg4565=)
c.13848G>T (p.Arg4616=)
c.13428G>T (p.Arg4476=)
c.12753G>T (p.Arg4251=)
c.8937G>T (p.Arg2979=)
c.8490G>T (p.Arg2830=)
c.7827G>T (p.Arg2609=)
c.12342G>T (p.Arg4114=)
5g.13692119C>GCA443248808DNAH5n.1073G>C
c.13740G>C (p.Arg4580=)
c.13695G>C (p.Arg4565=)
c.13848G>C (p.Arg4616=)
c.13428G>C (p.Arg4476=)
c.12753G>C (p.Arg4251=)
c.8937G>C (p.Arg2979=)
c.8490G>C (p.Arg2830=)
c.7827G>C (p.Arg2609=)
c.12342G>C (p.Arg4114=)
5g.13692119C>TCA443248809DNAH5n.1073G>A
c.13740G>A (p.Arg4580=)
c.13695G>A (p.Arg4565=)
c.13848G>A (p.Arg4616=)
c.13428G>A (p.Arg4476=)
c.12753G>A (p.Arg4251=)
c.8937G>A (p.Arg2979=)
c.8490G>A (p.Arg2830=)
c.7827G>A (p.Arg2609=)
c.12342G>A (p.Arg4114=)
 ClinVar gnomAD v4
5g.13692120C>ACA359188757DNAH5n.1072G>T
c.13739G>T (p.Arg4580Leu)
c.13694G>T (p.Arg4565Leu)
c.13847G>T (p.Arg4616Leu)
c.13427G>T (p.Arg4476Leu)
c.12752G>T (p.Arg4251Leu)
c.8936G>T (p.Arg2979Leu)
c.8489G>T (p.Arg2830Leu)
c.7826G>T (p.Arg2609Leu)
c.12341G>T (p.Arg4114Leu)
5g.13692120C=CA1528395889DNAH5n.1072G=
c.13739G= (p.Arg4580=)
c.13694G= (p.Arg4565=)
c.13847G= (p.Arg4616=)
c.13427G= (p.Arg4476=)
c.12752G= (p.Arg4251=)
c.8936G= (p.Arg2979=)
c.8489G= (p.Arg2830=)
c.7826G= (p.Arg2609=)
c.12341G= (p.Arg4114=)
5g.13692120C>GCA359188758DNAH5n.1072G>C
c.13739G>C (p.Arg4580Pro)
c.13694G>C (p.Arg4565Pro)
c.13847G>C (p.Arg4616Pro)
c.13427G>C (p.Arg4476Pro)
c.12752G>C (p.Arg4251Pro)
c.8936G>C (p.Arg2979Pro)
c.8489G>C (p.Arg2830Pro)
c.7826G>C (p.Arg2609Pro)
c.12341G>C (p.Arg4114Pro)
 gnomAD v4
5g.13692120C>TCA359188759DNAH5n.1072G>A
c.13739G>A (p.Arg4580Gln)
c.13694G>A (p.Arg4565Gln)
c.13847G>A (p.Arg4616Gln)
c.13427G>A (p.Arg4476Gln)
c.12752G>A (p.Arg4251Gln)
c.8936G>A (p.Arg2979Gln)
c.8489G>A (p.Arg2830Gln)
c.7826G>A (p.Arg2609Gln)
c.12341G>A (p.Arg4114Gln)
 dbSNP gnomAD v4
5g.13692121G>ACA3201252DNAH5n.1071C>T
c.13738C>T (p.Arg4580Trp)
c.13693C>T (p.Arg4565Trp)
c.13846C>T (p.Arg4616Trp)
c.13426C>T (p.Arg4476Trp)
c.12751C>T (p.Arg4251Trp)
c.8935C>T (p.Arg2979Trp)
c.8488C>T (p.Arg2830Trp)
c.7825C>T (p.Arg2609Trp)
c.12340C>T (p.Arg4114Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13692121G>CCA359188760DNAH5n.1071C>G
c.13738C>G (p.Arg4580Gly)
c.13693C>G (p.Arg4565Gly)
c.13846C>G (p.Arg4616Gly)
c.13426C>G (p.Arg4476Gly)
c.12751C>G (p.Arg4251Gly)
c.8935C>G (p.Arg2979Gly)
c.8488C>G (p.Arg2830Gly)
c.7825C>G (p.Arg2609Gly)
c.12340C>G (p.Arg4114Gly)
5g.13692121G=CA1528395890DNAH5n.1071C=
c.13738C= (p.Arg4580=)
c.13693C= (p.Arg4565=)
c.13846C= (p.Arg4616=)
c.13426C= (p.Arg4476=)
c.12751C= (p.Arg4251=)
c.8935C= (p.Arg2979=)
c.8488C= (p.Arg2830=)
c.7825C= (p.Arg2609=)
c.12340C= (p.Arg4114=)
5g.13692121G>TCA443248812DNAH5n.1071C>A
c.13738C>A (p.Arg4580=)
c.13693C>A (p.Arg4565=)
c.13846C>A (p.Arg4616=)
c.13426C>A (p.Arg4476=)
c.12751C>A (p.Arg4251=)
c.8935C>A (p.Arg2979=)
c.8488C>A (p.Arg2830=)
c.7825C>A (p.Arg2609=)
c.12340C>A (p.Arg4114=)
5g.13692122A>CCA443248814DNAH5n.1070T>G
c.13737T>G (p.Pro4579=)
c.13692T>G (p.Pro4564=)
c.13845T>G (p.Pro4615=)
c.13425T>G (p.Pro4475=)
c.12750T>G (p.Pro4250=)
c.8934T>G (p.Pro2978=)
c.8487T>G (p.Pro2829=)
c.7824T>G (p.Pro2608=)
c.12339T>G (p.Pro4113=)
5g.13692122A>GCA443248816DNAH5n.1070T>C
c.13737T>C (p.Pro4579=)
c.13692T>C (p.Pro4564=)
c.13845T>C (p.Pro4615=)
c.13425T>C (p.Pro4475=)
c.12750T>C (p.Pro4250=)
c.8934T>C (p.Pro2978=)
c.8487T>C (p.Pro2829=)
c.7824T>C (p.Pro2608=)
c.12339T>C (p.Pro4113=)
5g.13692122A>TCA443248815DNAH5n.1070T>A
c.13737T>A (p.Pro4579=)
c.13692T>A (p.Pro4564=)
c.13845T>A (p.Pro4615=)
c.13425T>A (p.Pro4475=)
c.12750T>A (p.Pro4250=)
c.8934T>A (p.Pro2978=)
c.8487T>A (p.Pro2829=)
c.7824T>A (p.Pro2608=)
c.12339T>A (p.Pro4113=)
5g.13692123G>ACA3201253DNAH5n.1069C>T
c.13736C>T (p.Pro4579Leu)
c.13691C>T (p.Pro4564Leu)
c.13844C>T (p.Pro4615Leu)
c.13424C>T (p.Pro4475Leu)
c.12749C>T (p.Pro4250Leu)
c.8933C>T (p.Pro2978Leu)
c.8486C>T (p.Pro2829Leu)
c.7823C>T (p.Pro2608Leu)
c.12338C>T (p.Pro4113Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13692123G>CCA359188761DNAH5n.1069C>G
c.13736C>G (p.Pro4579Arg)
c.13691C>G (p.Pro4564Arg)
c.13844C>G (p.Pro4615Arg)
c.13424C>G (p.Pro4475Arg)
c.12749C>G (p.Pro4250Arg)
c.8933C>G (p.Pro2978Arg)
c.8486C>G (p.Pro2829Arg)
c.7823C>G (p.Pro2608Arg)
c.12338C>G (p.Pro4113Arg)
5g.13692123G=CA1528395891DNAH5n.1069C=
c.13736C= (p.Pro4579=)
c.13691C= (p.Pro4564=)
c.13844C= (p.Pro4615=)
c.13424C= (p.Pro4475=)
c.12749C= (p.Pro4250=)
c.8933C= (p.Pro2978=)
c.8486C= (p.Pro2829=)
c.7823C= (p.Pro2608=)
c.12338C= (p.Pro4113=)
5g.13692123G>TCA359188762DNAH5n.1069C>A
c.13736C>A (p.Pro4579His)
c.13691C>A (p.Pro4564His)
c.13844C>A (p.Pro4615His)
c.13424C>A (p.Pro4475His)
c.12749C>A (p.Pro4250His)
c.8933C>A (p.Pro2978His)
c.8486C>A (p.Pro2829His)
c.7823C>A (p.Pro2608His)
c.12338C>A (p.Pro4113His)
5g.13692124G>ACA113905505DNAH5n.1068C>T
c.13735C>T (p.Pro4579Ser)
c.13690C>T (p.Pro4564Ser)
c.13843C>T (p.Pro4615Ser)
c.13423C>T (p.Pro4475Ser)
c.12748C>T (p.Pro4250Ser)
c.8932C>T (p.Pro2978Ser)
c.8485C>T (p.Pro2829Ser)
c.7822C>T (p.Pro2608Ser)
c.12337C>T (p.Pro4113Ser)
 dbSNP COSMIC
5g.13692124G>CCA359188763DNAH5n.1068C>G
c.13735C>G (p.Pro4579Ala)
c.13690C>G (p.Pro4564Ala)
c.13843C>G (p.Pro4615Ala)
c.13423C>G (p.Pro4475Ala)
c.12748C>G (p.Pro4250Ala)
c.8932C>G (p.Pro2978Ala)
c.8485C>G (p.Pro2829Ala)
c.7822C>G (p.Pro2608Ala)
c.12337C>G (p.Pro4113Ala)
5g.13692124G=CA1528395892DNAH5n.1068C=
c.13735C= (p.Pro4579=)
c.13690C= (p.Pro4564=)
c.13843C= (p.Pro4615=)
c.13423C= (p.Pro4475=)
c.12748C= (p.Pro4250=)
c.8932C= (p.Pro2978=)
c.8485C= (p.Pro2829=)
c.7822C= (p.Pro2608=)
c.12337C= (p.Pro4113=)
5g.13692124G>TCA359188764DNAH5n.1068C>A
c.13735C>A (p.Pro4579Thr)
c.13690C>A (p.Pro4564Thr)
c.13843C>A (p.Pro4615Thr)
c.13423C>A (p.Pro4475Thr)
c.12748C>A (p.Pro4250Thr)
c.8932C>A (p.Pro2978Thr)
c.8485C>A (p.Pro2829Thr)
c.7822C>A (p.Pro2608Thr)
c.12337C>A (p.Pro4113Thr)
5g.13692125A=CA1528395893DNAH5n.1067T=
c.13734T= (p.Asp4578=)
c.13689T= (p.Asp4563=)
c.13842T= (p.Asp4614=)
c.13422T= (p.Asp4474=)
c.12747T= (p.Asp4249=)
c.8931T= (p.Asp2977=)
c.8484T= (p.Asp2828=)
c.7821T= (p.Asp2607=)
c.12336T= (p.Asp4112=)
5g.13692125A>CCA359188765DNAH5n.1067T>G
c.13734T>G (p.Asp4578Glu)
c.13689T>G (p.Asp4563Glu)
c.13842T>G (p.Asp4614Glu)
c.13422T>G (p.Asp4474Glu)
c.12747T>G (p.Asp4249Glu)
c.8931T>G (p.Asp2977Glu)
c.8484T>G (p.Asp2828Glu)
c.7821T>G (p.Asp2607Glu)
c.12336T>G (p.Asp4112Glu)
5g.13692125A>GCA443248821DNAH5n.1067T>C
c.13734T>C (p.Asp4578=)
c.13689T>C (p.Asp4563=)
c.13842T>C (p.Asp4614=)
c.13422T>C (p.Asp4474=)
c.12747T>C (p.Asp4249=)
c.8931T>C (p.Asp2977=)
c.8484T>C (p.Asp2828=)
c.7821T>C (p.Asp2607=)
c.12336T>C (p.Asp4112=)
 ClinVar dbSNP
5g.13692125A>TCA359188766DNAH5n.1067T>A
c.13734T>A (p.Asp4578Glu)
c.13689T>A (p.Asp4563Glu)
c.13842T>A (p.Asp4614Glu)
c.13422T>A (p.Asp4474Glu)
c.12747T>A (p.Asp4249Glu)
c.8931T>A (p.Asp2977Glu)
c.8484T>A (p.Asp2828Glu)
c.7821T>A (p.Asp2607Glu)
c.12336T>A (p.Asp4112Glu)
5g.13692126delCA2578269522DNAH5n.1066del
c.13733del (p.Asp4578ValfsTer18)
c.13688del (p.Asp4563ValfsTer18)
c.13841del (p.Asp4614ValfsTer18)
c.13421del (p.Asp4474ValfsTer18)
c.12746del (p.Asp4249ValfsTer18)
c.8930del (p.Asp2977ValfsTer18)
c.8483del (p.Asp2828ValfsTer18)
c.7820del (p.Asp2607ValfsTer18)
c.12335del (p.Asp4112ValfsTer18)
5g.13692126T>ACA359188767DNAH5n.1066A>T
c.13733A>T (p.Asp4578Val)
c.13688A>T (p.Asp4563Val)
c.13841A>T (p.Asp4614Val)
c.13421A>T (p.Asp4474Val)
c.12746A>T (p.Asp4249Val)
c.8930A>T (p.Asp2977Val)
c.8483A>T (p.Asp2828Val)
c.7820A>T (p.Asp2607Val)
c.12335A>T (p.Asp4112Val)
5g.13692126T>CCA359188768DNAH5n.1066A>G
c.13733A>G (p.Asp4578Gly)
c.13688A>G (p.Asp4563Gly)
c.13841A>G (p.Asp4614Gly)
c.13421A>G (p.Asp4474Gly)
c.12746A>G (p.Asp4249Gly)
c.8930A>G (p.Asp2977Gly)
c.8483A>G (p.Asp2828Gly)
c.7820A>G (p.Asp2607Gly)
c.12335A>G (p.Asp4112Gly)
5g.13692126T>GCA359188769DNAH5n.1066A>C
c.13733A>C (p.Asp4578Ala)
c.13688A>C (p.Asp4563Ala)
c.13841A>C (p.Asp4614Ala)
c.13421A>C (p.Asp4474Ala)
c.12746A>C (p.Asp4249Ala)
c.8930A>C (p.Asp2977Ala)
c.8483A>C (p.Asp2828Ala)
c.7820A>C (p.Asp2607Ala)
c.12335A>C (p.Asp4112Ala)
5g.13692127C>ACA359188770DNAH5n.1065G>T
c.13732G>T (p.Asp4578Tyr)
c.13687G>T (p.Asp4563Tyr)
c.13840G>T (p.Asp4614Tyr)
c.13420G>T (p.Asp4474Tyr)
c.12745G>T (p.Asp4249Tyr)
c.8929G>T (p.Asp2977Tyr)
c.8482G>T (p.Asp2828Tyr)
c.7819G>T (p.Asp2607Tyr)
c.12334G>T (p.Asp4112Tyr)
5g.13692127C>GCA359188772DNAH5n.1065G>C
c.13732G>C (p.Asp4578His)
c.13687G>C (p.Asp4563His)
c.13840G>C (p.Asp4614His)
c.13420G>C (p.Asp4474His)
c.12745G>C (p.Asp4249His)
c.8929G>C (p.Asp2977His)
c.8482G>C (p.Asp2828His)
c.7819G>C (p.Asp2607His)
c.12334G>C (p.Asp4112His)
5g.13692127C>TCA359188771DNAH5n.1065G>A
c.13732G>A (p.Asp4578Asn)
c.13687G>A (p.Asp4563Asn)
c.13840G>A (p.Asp4614Asn)
c.13420G>A (p.Asp4474Asn)
c.12745G>A (p.Asp4249Asn)
c.8929G>A (p.Asp2977Asn)
c.8482G>A (p.Asp2828Asn)
c.7819G>A (p.Asp2607Asn)
c.12334G>A (p.Asp4112Asn)
5g.13692128T>ACA443248831DNAH5n.1064A>T
c.13731A>T (p.Arg4577=)
c.13686A>T (p.Arg4562=)
c.13839A>T (p.Arg4613=)
c.13419A>T (p.Arg4473=)
c.12744A>T (p.Arg4248=)
c.8928A>T (p.Arg2976=)
c.8481A>T (p.Arg2827=)
c.7818A>T (p.Arg2606=)
c.12333A>T (p.Arg4111=)
5g.13692128T>CCA443248832DNAH5n.1064A>G
c.13731A>G (p.Arg4577=)
c.13686A>G (p.Arg4562=)
c.13839A>G (p.Arg4613=)
c.13419A>G (p.Arg4473=)
c.12744A>G (p.Arg4248=)
c.8928A>G (p.Arg2976=)
c.8481A>G (p.Arg2827=)
c.7818A>G (p.Arg2606=)
c.12333A>G (p.Arg4111=)
5g.13692128T>GCA443248834DNAH5n.1064A>C
c.13731A>C (p.Arg4577=)
c.13686A>C (p.Arg4562=)
c.13839A>C (p.Arg4613=)
c.13419A>C (p.Arg4473=)
c.12744A>C (p.Arg4248=)
c.8928A>C (p.Arg2976=)
c.8481A>C (p.Arg2827=)
c.7818A>C (p.Arg2606=)
c.12333A>C (p.Arg4111=)
5g.13692129C>ACA359188773DNAH5n.1063G>T
c.13730G>T (p.Arg4577Leu)
c.13685G>T (p.Arg4562Leu)
c.13838G>T (p.Arg4613Leu)
c.13418G>T (p.Arg4473Leu)
c.12743G>T (p.Arg4248Leu)
c.8927G>T (p.Arg2976Leu)
c.8480G>T (p.Arg2827Leu)
c.7817G>T (p.Arg2606Leu)
c.12332G>T (p.Arg4111Leu)
5g.13692129C=CA1528395894DNAH5n.1063G=
c.13730G= (p.Arg4577=)
c.13685G= (p.Arg4562=)
c.13838G= (p.Arg4613=)
c.13418G= (p.Arg4473=)
c.12743G= (p.Arg4248=)
c.8927G= (p.Arg2976=)
c.8480G= (p.Arg2827=)
c.7817G= (p.Arg2606=)
c.12332G= (p.Arg4111=)
5g.13692129C>GCA359188774DNAH5n.1063G>C
c.13730G>C (p.Arg4577Pro)
c.13685G>C (p.Arg4562Pro)
c.13838G>C (p.Arg4613Pro)
c.13418G>C (p.Arg4473Pro)
c.12743G>C (p.Arg4248Pro)
c.8927G>C (p.Arg2976Pro)
c.8480G>C (p.Arg2827Pro)
c.7817G>C (p.Arg2606Pro)
c.12332G>C (p.Arg4111Pro)
5g.13692129C>TCA3201254DNAH5n.1063G>A
c.13730G>A (p.Arg4577Gln)
c.13685G>A (p.Arg4562Gln)
c.13838G>A (p.Arg4613Gln)
c.13418G>A (p.Arg4473Gln)
c.12743G>A (p.Arg4248Gln)
c.8927G>A (p.Arg2976Gln)
c.8480G>A (p.Arg2827Gln)
c.7817G>A (p.Arg2606Gln)
c.12332G>A (p.Arg4111Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13692130G>ACA359188775DNAH5n.1062C>T
c.13729C>T (p.Arg4577Ter)
c.13684C>T (p.Arg4562Ter)
c.13837C>T (p.Arg4613Ter)
c.13417C>T (p.Arg4473Ter)
c.12742C>T (p.Arg4248Ter)
c.8926C>T (p.Arg2976Ter)
c.8479C>T (p.Arg2827Ter)
c.7816C>T (p.Arg2606Ter)
c.12331C>T (p.Arg4111Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
5g.13692130G>CCA359188776DNAH5n.1062C>G
c.13729C>G (p.Arg4577Gly)
c.13684C>G (p.Arg4562Gly)
c.13837C>G (p.Arg4613Gly)
c.13417C>G (p.Arg4473Gly)
c.12742C>G (p.Arg4248Gly)
c.8926C>G (p.Arg2976Gly)
c.8479C>G (p.Arg2827Gly)
c.7816C>G (p.Arg2606Gly)
c.12331C>G (p.Arg4111Gly)
 gnomAD v4
5g.13692130G=CA1528395895DNAH5n.1062C=
c.13729C= (p.Arg4577=)
c.13684C= (p.Arg4562=)
c.13837C= (p.Arg4613=)
c.13417C= (p.Arg4473=)
c.12742C= (p.Arg4248=)
c.8926C= (p.Arg2976=)
c.8479C= (p.Arg2827=)
c.7816C= (p.Arg2606=)
c.12331C= (p.Arg4111=)
5g.13692130G>TCA443248842DNAH5n.1062C>A
c.13729C>A (p.Arg4577=)
c.13684C>A (p.Arg4562=)
c.13837C>A (p.Arg4613=)
c.13417C>A (p.Arg4473=)
c.12742C>A (p.Arg4248=)
c.8926C>A (p.Arg2976=)
c.8479C>A (p.Arg2827=)
c.7816C>A (p.Arg2606=)
c.12331C>A (p.Arg4111=)
 dbSNP
5g.13692131T>ACA359188777DNAH5n.1061A>T
c.13728A>T (p.Leu4576Phe)
c.13683A>T (p.Leu4561Phe)
c.13836A>T (p.Leu4612Phe)
c.13416A>T (p.Leu4472Phe)
c.12741A>T (p.Leu4247Phe)
c.8925A>T (p.Leu2975Phe)
c.8478A>T (p.Leu2826Phe)
c.7815A>T (p.Leu2605Phe)
c.12330A>T (p.Leu4110Phe)
5g.13692131T>CCA443248844DNAH5n.1061A>G
c.13728A>G (p.Leu4576=)
c.13683A>G (p.Leu4561=)
c.13836A>G (p.Leu4612=)
c.13416A>G (p.Leu4472=)
c.12741A>G (p.Leu4247=)
c.8925A>G (p.Leu2975=)
c.8478A>G (p.Leu2826=)
c.7815A>G (p.Leu2605=)
c.12330A>G (p.Leu4110=)
5g.13692131T>GCA359188778DNAH5n.1061A>C
c.13728A>C (p.Leu4576Phe)
c.13683A>C (p.Leu4561Phe)
c.13836A>C (p.Leu4612Phe)
c.13416A>C (p.Leu4472Phe)
c.12741A>C (p.Leu4247Phe)
c.8925A>C (p.Leu2975Phe)
c.8478A>C (p.Leu2826Phe)
c.7815A>C (p.Leu2605Phe)
c.12330A>C (p.Leu4110Phe)
5g.13692132A=CA1528395896DNAH5n.1060T=
c.13727T= (p.Leu4576=)
c.13682T= (p.Leu4561=)
c.13835T= (p.Leu4612=)
c.13415T= (p.Leu4472=)
c.12740T= (p.Leu4247=)
c.8924T= (p.Leu2975=)
c.8477T= (p.Leu2826=)
c.7814T= (p.Leu2605=)
c.12329T= (p.Leu4110=)
5g.13692132A>CCA359188779DNAH5n.1060T>G
c.13727T>G (p.Leu4576Ter)
c.13682T>G (p.Leu4561Ter)
c.13835T>G (p.Leu4612Ter)
c.13415T>G (p.Leu4472Ter)
c.12740T>G (p.Leu4247Ter)
c.8924T>G (p.Leu2975Ter)
c.8477T>G (p.Leu2826Ter)
c.7814T>G (p.Leu2605Ter)
c.12329T>G (p.Leu4110Ter)
5g.13692132A>GCA359188780DNAH5n.1060T>C
c.13727T>C (p.Leu4576Ser)
c.13682T>C (p.Leu4561Ser)
c.13835T>C (p.Leu4612Ser)
c.13415T>C (p.Leu4472Ser)
c.12740T>C (p.Leu4247Ser)
c.8924T>C (p.Leu2975Ser)
c.8477T>C (p.Leu2826Ser)
c.7814T>C (p.Leu2605Ser)
c.12329T>C (p.Leu4110Ser)
 dbSNP gnomAD v3 gnomAD v4
5g.13692132A>TCA359188781DNAH5n.1060T>A
c.13727T>A (p.Leu4576Ter)
c.13682T>A (p.Leu4561Ter)
c.13835T>A (p.Leu4612Ter)
c.13415T>A (p.Leu4472Ter)
c.12740T>A (p.Leu4247Ter)
c.8924T>A (p.Leu2975Ter)
c.8477T>A (p.Leu2826Ter)
c.7814T>A (p.Leu2605Ter)
c.12329T>A (p.Leu4110Ter)
5g.13692134delCA2673266105DNAH5n.1060del
c.13727del (p.Leu4576TyrfsTer20)
c.13682del (p.Leu4561TyrfsTer20)
c.13835del (p.Leu4612TyrfsTer20)
c.13415del (p.Leu4472TyrfsTer20)
c.12740del (p.Leu4247TyrfsTer20)
c.8924del (p.Leu2975TyrfsTer20)
c.8477del (p.Leu2826TyrfsTer20)
c.7814del (p.Leu2605TyrfsTer20)
c.12329del (p.Leu4110TyrfsTer20)
 gnomAD v4
5g.13692133A>CCA359188782DNAH5n.1059T>G
c.13726T>G (p.Leu4576Val)
c.13681T>G (p.Leu4561Val)
c.13834T>G (p.Leu4612Val)
c.13414T>G (p.Leu4472Val)
c.12739T>G (p.Leu4247Val)
c.8923T>G (p.Leu2975Val)
c.8476T>G (p.Leu2826Val)
c.7813T>G (p.Leu2605Val)
c.12328T>G (p.Leu4110Val)
5g.13692133A>GCA443248850DNAH5n.1059T>C
c.13726T>C (p.Leu4576=)
c.13681T>C (p.Leu4561=)
c.13834T>C (p.Leu4612=)
c.13414T>C (p.Leu4472=)
c.12739T>C (p.Leu4247=)
c.8923T>C (p.Leu2975=)
c.8476T>C (p.Leu2826=)
c.7813T>C (p.Leu2605=)
c.12328T>C (p.Leu4110=)
5g.13692133A>TCA359188783DNAH5n.1059T>A
c.13726T>A (p.Leu4576Ile)
c.13681T>A (p.Leu4561Ile)
c.13834T>A (p.Leu4612Ile)
c.13414T>A (p.Leu4472Ile)
c.12739T>A (p.Leu4247Ile)
c.8923T>A (p.Leu2975Ile)
c.8476T>A (p.Leu2826Ile)
c.7813T>A (p.Leu2605Ile)
c.12328T>A (p.Leu4110Ile)
5g.13692134A>CCA443248855DNAH5n.1058T>G
c.13725T>G (p.Thr4575=)
c.13680T>G (p.Thr4560=)
c.13833T>G (p.Thr4611=)
c.13413T>G (p.Thr4471=)
c.12738T>G (p.Thr4246=)
c.8922T>G (p.Thr2974=)
c.8475T>G (p.Thr2825=)
c.7812T>G (p.Thr2604=)
c.12327T>G (p.Thr4109=)
5g.13692134A>GCA443248857DNAH5n.1058T>C
c.13725T>C (p.Thr4575=)
c.13680T>C (p.Thr4560=)
c.13833T>C (p.Thr4611=)
c.13413T>C (p.Thr4471=)
c.12738T>C (p.Thr4246=)
c.8922T>C (p.Thr2974=)
c.8475T>C (p.Thr2825=)
c.7812T>C (p.Thr2604=)
c.12327T>C (p.Thr4109=)
5g.13692134A>TCA443248858DNAH5n.1058T>A
c.13725T>A (p.Thr4575=)
c.13680T>A (p.Thr4560=)
c.13833T>A (p.Thr4611=)
c.13413T>A (p.Thr4471=)
c.12738T>A (p.Thr4246=)
c.8922T>A (p.Thr2974=)
c.8475T>A (p.Thr2825=)
c.7812T>A (p.Thr2604=)
c.12327T>A (p.Thr4109=)
5g.13692135G>ACA359188784DNAH5n.1057C>T
c.13724C>T (p.Thr4575Ile)
c.13679C>T (p.Thr4560Ile)
c.13832C>T (p.Thr4611Ile)
c.13412C>T (p.Thr4471Ile)
c.12737C>T (p.Thr4246Ile)
c.8921C>T (p.Thr2974Ile)
c.8474C>T (p.Thr2825Ile)
c.7811C>T (p.Thr2604Ile)
c.12326C>T (p.Thr4109Ile)
5g.13692135G>CCA359188785DNAH5n.1057C>G
c.13724C>G (p.Thr4575Ser)
c.13679C>G (p.Thr4560Ser)
c.13832C>G (p.Thr4611Ser)
c.13412C>G (p.Thr4471Ser)
c.12737C>G (p.Thr4246Ser)
c.8921C>G (p.Thr2974Ser)
c.8474C>G (p.Thr2825Ser)
c.7811C>G (p.Thr2604Ser)
c.12326C>G (p.Thr4109Ser)
5g.13692135G>TCA359188786DNAH5n.1057C>A
c.13724C>A (p.Thr4575Asn)
c.13679C>A (p.Thr4560Asn)
c.13832C>A (p.Thr4611Asn)
c.13412C>A (p.Thr4471Asn)
c.12737C>A (p.Thr4246Asn)
c.8921C>A (p.Thr2974Asn)
c.8474C>A (p.Thr2825Asn)
c.7811C>A (p.Thr2604Asn)
c.12326C>A (p.Thr4109Asn)
5g.13692136C>ACA359188787DNAH5n.1057-1G>T
c.13724-1G>T (n.13724-1G>T)
c.13679-1G>T (n.13679-1G>T)
c.13832-1G>T (n.13832-1G>T)
c.13412-1G>T (n.13412-1G>T)
c.12737-1G>T (n.12737-1G>T)
c.8921-1G>T (n.8921-1G>T)
c.8474-1G>T (n.8474-1G>T)
c.7811-1G>T (n.7811-1G>T)
c.12326-1G>T (n.12326-1G>T)
5g.13692136C>GCA359188788DNAH5n.1057-1G>C
c.13724-1G>C (n.13724-1G>C)
c.13679-1G>C (n.13679-1G>C)
c.13832-1G>C (n.13832-1G>C)
c.13412-1G>C (n.13412-1G>C)
c.12737-1G>C (n.12737-1G>C)
c.8921-1G>C (n.8921-1G>C)
c.8474-1G>C (n.8474-1G>C)
c.7811-1G>C (n.7811-1G>C)
c.12326-1G>C (n.12326-1G>C)
5g.13692136C>TCA359188789DNAH5n.1057-1G>A
c.13724-1G>A (n.13724-1G>A)
c.13679-1G>A (n.13679-1G>A)
c.13832-1G>A (n.13832-1G>A)
c.13412-1G>A (n.13412-1G>A)
c.12737-1G>A (n.12737-1G>A)
c.8921-1G>A (n.8921-1G>A)
c.8474-1G>A (n.8474-1G>A)
c.7811-1G>A (n.7811-1G>A)
c.12326-1G>A (n.12326-1G>A)
5g.13692137T>ACA359188790DNAH5n.1057-2A>T
c.13724-2A>T (n.13724-2A>T)
c.13679-2A>T (n.13679-2A>T)
c.13832-2A>T (n.13832-2A>T)
c.13412-2A>T (n.13412-2A>T)
c.12737-2A>T (n.12737-2A>T)
c.8921-2A>T (n.8921-2A>T)
c.8474-2A>T (n.8474-2A>T)
c.7811-2A>T (n.7811-2A>T)
c.12326-2A>T (n.12326-2A>T)
5g.13692137T>CCA359188792DNAH5n.1057-2A>G
c.13724-2A>G (n.13724-2A>G)
c.13679-2A>G (n.13679-2A>G)
c.13832-2A>G (n.13832-2A>G)
c.13412-2A>G (n.13412-2A>G)
c.12737-2A>G (n.12737-2A>G)
c.8921-2A>G (n.8921-2A>G)
c.8474-2A>G (n.8474-2A>G)
c.7811-2A>G (n.7811-2A>G)
c.12326-2A>G (n.12326-2A>G)
 dbSNP gnomAD v3 gnomAD v4
5g.13692137T>GCA359188791DNAH5n.1057-2A>C
c.13724-2A>C (n.13724-2A>C)
c.13679-2A>C (n.13679-2A>C)
c.13832-2A>C (n.13832-2A>C)
c.13412-2A>C (n.13412-2A>C)
c.12737-2A>C (n.12737-2A>C)
c.8921-2A>C (n.8921-2A>C)
c.8474-2A>C (n.8474-2A>C)
c.7811-2A>C (n.7811-2A>C)
c.12326-2A>C (n.12326-2A>C)
5g.13692137T=CA1528395897DNAH5n.1057-2A=
c.13724-2A= (n.13724-2A=)
c.13679-2A= (n.13679-2A=)
c.13832-2A= (n.13832-2A=)
c.13412-2A= (n.13412-2A=)
c.12737-2A= (n.12737-2A=)
c.8921-2A= (n.8921-2A=)
c.8474-2A= (n.8474-2A=)
c.7811-2A= (n.7811-2A=)
c.12326-2A= (n.12326-2A=)
5g.13692139C>ACA1073389351DNAH5n.1057-4G>T
c.13724-4G>T (n.13724-4G>T)
c.13679-4G>T (n.13679-4G>T)
c.13832-4G>T (n.13832-4G>T)
c.13412-4G>T (n.13412-4G>T)
c.12737-4G>T (n.12737-4G>T)
c.8921-4G>T (n.8921-4G>T)
c.8474-4G>T (n.8474-4G>T)
c.7811-4G>T (n.7811-4G>T)
c.12326-4G>T (n.12326-4G>T)
 gnomAD v3 gnomAD v4
5g.13692139C=CA1528395898DNAH5n.1057-4G=
c.13724-4G= (n.13724-4G=)
c.13679-4G= (n.13679-4G=)
c.13832-4G= (n.13832-4G=)
c.13412-4G= (n.13412-4G=)
c.12737-4G= (n.12737-4G=)
c.8921-4G= (n.8921-4G=)
c.8474-4G= (n.8474-4G=)
c.7811-4G= (n.7811-4G=)
c.12326-4G= (n.12326-4G=)
5g.13692139C>TCA3201255DNAH5n.1057-4G>A
c.13724-4G>A (n.13724-4G>A)
c.13679-4G>A (n.13679-4G>A)
c.13832-4G>A (n.13832-4G>A)
c.13412-4G>A (n.13412-4G>A)
c.12737-4G>A (n.12737-4G>A)
c.8921-4G>A (n.8921-4G>A)
c.8474-4G>A (n.8474-4G>A)
c.7811-4G>A (n.7811-4G>A)
c.12326-4G>A (n.12326-4G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13692145dupCA1073389352DNAH5n.1057-5dup
c.13724-5dup (n.13724-5dup)
c.13679-5dup (n.13679-5dup)
c.13832-5dup (n.13832-5dup)
c.13412-5dup (n.13412-5dup)
c.12737-5dup (n.12737-5dup)
c.8921-5dup (n.8921-5dup)
c.8474-5dup (n.8474-5dup)
c.7811-5dup (n.7811-5dup)
c.12326-5dup (n.12326-5dup)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.13692142A=CA1528395899DNAH5n.1057-7T=
c.13724-7T= (n.13724-7T=)
c.13679-7T= (n.13679-7T=)
c.13832-7T= (n.13832-7T=)
c.13412-7T= (n.13412-7T=)
c.12737-7T= (n.12737-7T=)
c.8921-7T= (n.8921-7T=)
c.8474-7T= (n.8474-7T=)
c.7811-7T= (n.7811-7T=)
c.12326-7T= (n.12326-7T=)
5g.13692142A>CCA3201256DNAH5n.1057-7T>G
c.13724-7T>G (n.13724-7T>G)
c.13679-7T>G (n.13679-7T>G)
c.13832-7T>G (n.13832-7T>G)
c.13412-7T>G (n.13412-7T>G)
c.12737-7T>G (n.12737-7T>G)
c.8921-7T>G (n.8921-7T>G)
c.8474-7T>G (n.8474-7T>G)
c.7811-7T>G (n.7811-7T>G)
c.12326-7T>G (n.12326-7T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched