Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.13708263T>ACA359197561DNAH5n.531A>T
c.13198A>T (p.Met4400Leu)
c.13153A>T (p.Met4385Leu)
c.13306A>T (p.Met4436Leu)
c.12886A>T (p.Met4296Leu)
c.12211A>T (p.Met4071Leu)
c.8395A>T (p.Met2799Leu)
c.7948A>T (p.Met2650Leu)
c.7285A>T (p.Met2429Leu)
c.11800A>T (p.Met3934Leu)
 dbSNP
5g.13708263T>CCA359197573DNAH5n.531A>G
c.13198A>G (p.Met4400Val)
c.13153A>G (p.Met4385Val)
c.13306A>G (p.Met4436Val)
c.12886A>G (p.Met4296Val)
c.12211A>G (p.Met4071Val)
c.8395A>G (p.Met2799Val)
c.7948A>G (p.Met2650Val)
c.7285A>G (p.Met2429Val)
c.11800A>G (p.Met3934Val)
 gnomAD v4
5g.13708263T>GCA359197568DNAH5n.531A>C
c.13198A>C (p.Met4400Leu)
c.13153A>C (p.Met4385Leu)
c.13306A>C (p.Met4436Leu)
c.12886A>C (p.Met4296Leu)
c.12211A>C (p.Met4071Leu)
c.8395A>C (p.Met2799Leu)
c.7948A>C (p.Met2650Leu)
c.7285A>C (p.Met2429Leu)
c.11800A>C (p.Met3934Leu)
5g.13708263T=CA1528403783DNAH5n.531A=
c.13198A= (p.Met4400=)
c.13153A= (p.Met4385=)
c.13306A= (p.Met4436=)
c.12886A= (p.Met4296=)
c.12211A= (p.Met4071=)
c.8395A= (p.Met2799=)
c.7948A= (p.Met2650=)
c.7285A= (p.Met2429=)
c.11800A= (p.Met3934=)
5g.13708263_13708267delinsTTCTGCA1528403782DNAH5n.527_531delinsCAGAA
c.13194_13198delinsCAGAA (p.Asp4398=)
c.13149_13153delinsCAGAA (p.Asp4383=)
c.13302_13306delinsCAGAA (p.Asp4434=)
c.12882_12886delinsCAGAA (p.Asp4294=)
c.12207_12211delinsCAGAA (p.Asp4069=)
c.8391_8395delinsCAGAA (p.Asp2797=)
c.7944_7948delinsCAGAA (p.Asp2648=)
c.7281_7285delinsCAGAA (p.Asp2427=)
c.11796_11800delinsCAGAA (p.Asp3932=)
5g.13708264T>ACA359197579DNAH5n.530A>T
c.13197A>T (p.Arg4399Ser)
c.13152A>T (p.Arg4384Ser)
c.13305A>T (p.Arg4435Ser)
c.12885A>T (p.Arg4295Ser)
c.12210A>T (p.Arg4070Ser)
c.8394A>T (p.Arg2798Ser)
c.7947A>T (p.Arg2649Ser)
c.7284A>T (p.Arg2428Ser)
c.11799A>T (p.Arg3933Ser)
5g.13708264T>CCA443251322DNAH5n.530A>G
c.13197A>G (p.Arg4399=)
c.13152A>G (p.Arg4384=)
c.13305A>G (p.Arg4435=)
c.12885A>G (p.Arg4295=)
c.12210A>G (p.Arg4070=)
c.8394A>G (p.Arg2798=)
c.7947A>G (p.Arg2649=)
c.7284A>G (p.Arg2428=)
c.11799A>G (p.Arg3933=)
5g.13708264T>GCA359197584DNAH5n.530A>C
c.13197A>C (p.Arg4399Ser)
c.13152A>C (p.Arg4384Ser)
c.13305A>C (p.Arg4435Ser)
c.12885A>C (p.Arg4295Ser)
c.12210A>C (p.Arg4070Ser)
c.8394A>C (p.Arg2798Ser)
c.7947A>C (p.Arg2649Ser)
c.7284A>C (p.Arg2428Ser)
c.11799A>C (p.Arg3933Ser)
5g.13708265_13708266delCA2578269595DNAH5n.529_530del
c.13196_13197del (p.Arg4399AsnfsTer14)
c.13151_13152del (p.Arg4384AsnfsTer14)
c.13304_13305del (p.Arg4435AsnfsTer14)
c.12884_12885del (p.Arg4295AsnfsTer14)
c.12209_12210del (p.Arg4070AsnfsTer14)
c.8393_8394del (p.Arg2798AsnfsTer14)
c.7946_7947del (p.Arg2649AsnfsTer14)
c.7283_7284del (p.Arg2428AsnfsTer14)
c.11798_11799del (p.Arg3933AsnfsTer14)
5g.13708267_13708270delCA273135DNAH5n.527_530del
c.13194_13197del (p.Asp4398GlufsTer16)
c.13149_13152del (p.Asp4383GlufsTer16)
c.13302_13305del (p.Asp4434GlufsTer16)
c.12882_12885del (p.Asp4294GlufsTer16)
c.12207_12210del (p.Asp4069GlufsTer16)
c.8391_8394del (p.Asp2797GlufsTer16)
c.7944_7947del (p.Asp2648GlufsTer16)
c.7281_7284del (p.Asp2427GlufsTer16)
c.11796_11799del (p.Asp3932GlufsTer16)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13708265C>ACA359197585DNAH5n.529G>T
c.13196G>T (p.Arg4399Ile)
c.13151G>T (p.Arg4384Ile)
c.13304G>T (p.Arg4435Ile)
c.12884G>T (p.Arg4295Ile)
c.12209G>T (p.Arg4070Ile)
c.8393G>T (p.Arg2798Ile)
c.7946G>T (p.Arg2649Ile)
c.7283G>T (p.Arg2428Ile)
c.11798G>T (p.Arg3933Ile)
5g.13708265C>GCA359197587DNAH5n.529G>C
c.13196G>C (p.Arg4399Thr)
c.13151G>C (p.Arg4384Thr)
c.13304G>C (p.Arg4435Thr)
c.12884G>C (p.Arg4295Thr)
c.12209G>C (p.Arg4070Thr)
c.8393G>C (p.Arg2798Thr)
c.7946G>C (p.Arg2649Thr)
c.7283G>C (p.Arg2428Thr)
c.11798G>C (p.Arg3933Thr)
5g.13708265C>TCA359197586DNAH5n.529G>A
c.13196G>A (p.Arg4399Lys)
c.13151G>A (p.Arg4384Lys)
c.13304G>A (p.Arg4435Lys)
c.12884G>A (p.Arg4295Lys)
c.12209G>A (p.Arg4070Lys)
c.8393G>A (p.Arg2798Lys)
c.7946G>A (p.Arg2649Lys)
c.7283G>A (p.Arg2428Lys)
c.11798G>A (p.Arg3933Lys)
5g.13708266T>ACA359197592DNAH5n.528A>T
c.13195A>T (p.Arg4399Ter)
c.13150A>T (p.Arg4384Ter)
c.13303A>T (p.Arg4435Ter)
c.12883A>T (p.Arg4295Ter)
c.12208A>T (p.Arg4070Ter)
c.8392A>T (p.Arg2798Ter)
c.7945A>T (p.Arg2649Ter)
c.7282A>T (p.Arg2428Ter)
c.11797A>T (p.Arg3933Ter)
 gnomAD v4
5g.13708266T>CCA359197595DNAH5n.528A>G
c.13195A>G (p.Arg4399Gly)
c.13150A>G (p.Arg4384Gly)
c.13303A>G (p.Arg4435Gly)
c.12883A>G (p.Arg4295Gly)
c.12208A>G (p.Arg4070Gly)
c.8392A>G (p.Arg2798Gly)
c.7945A>G (p.Arg2649Gly)
c.7282A>G (p.Arg2428Gly)
c.11797A>G (p.Arg3933Gly)
5g.13708266T>GCA443251324DNAH5n.528A>C
c.13195A>C (p.Arg4399=)
c.13150A>C (p.Arg4384=)
c.13303A>C (p.Arg4435=)
c.12883A>C (p.Arg4295=)
c.12208A>C (p.Arg4070=)
c.8392A>C (p.Arg2798=)
c.7945A>C (p.Arg2649=)
c.7282A>C (p.Arg2428=)
c.11797A>C (p.Arg3933=)
 gnomAD v4
5g.13708267G>ACA3201424DNAH5n.527C>T
c.13194C>T (p.Asp4398=)
c.13149C>T (p.Asp4383=)
c.13302C>T (p.Asp4434=)
c.12882C>T (p.Asp4294=)
c.12207C>T (p.Asp4069=)
c.8391C>T (p.Asp2797=)
c.7944C>T (p.Asp2648=)
c.7281C>T (p.Asp2427=)
c.11796C>T (p.Asp3932=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13708267G>CCA3201422DNAH5n.527C>G
c.13194C>G (p.Asp4398Glu)
c.13149C>G (p.Asp4383Glu)
c.13302C>G (p.Asp4434Glu)
c.12882C>G (p.Asp4294Glu)
c.12207C>G (p.Asp4069Glu)
c.8391C>G (p.Asp2797Glu)
c.7944C>G (p.Asp2648Glu)
c.7281C>G (p.Asp2427Glu)
c.11796C>G (p.Asp3932Glu)
 dbSNP ExAC gnomAD v4
5g.13708267G=CA1528403784DNAH5n.527C=
c.13194C= (p.Asp4398=)
c.13149C= (p.Asp4383=)
c.13302C= (p.Asp4434=)
c.12882C= (p.Asp4294=)
c.12207C= (p.Asp4069=)
c.8391C= (p.Asp2797=)
c.7944C= (p.Asp2648=)
c.7281C= (p.Asp2427=)
c.11796C= (p.Asp3932=)
5g.13708267G>TCA3201423DNAH5n.527C>A
c.13194C>A (p.Asp4398Glu)
c.13149C>A (p.Asp4383Glu)
c.13302C>A (p.Asp4434Glu)
c.12882C>A (p.Asp4294Glu)
c.12207C>A (p.Asp4069Glu)
c.8391C>A (p.Asp2797Glu)
c.7944C>A (p.Asp2648Glu)
c.7281C>A (p.Asp2427Glu)
c.11796C>A (p.Asp3932Glu)
 dbSNP ExAC gnomAD v3 gnomAD v4
5g.13708268T>ACA359197615DNAH5n.526A>T
c.13193A>T (p.Asp4398Val)
c.13148A>T (p.Asp4383Val)
c.13301A>T (p.Asp4434Val)
c.12881A>T (p.Asp4294Val)
c.12206A>T (p.Asp4069Val)
c.8390A>T (p.Asp2797Val)
c.7943A>T (p.Asp2648Val)
c.7280A>T (p.Asp2427Val)
c.11795A>T (p.Asp3932Val)
5g.13708268T>CCA3201425DNAH5n.526A>G
c.13193A>G (p.Asp4398Gly)
c.13148A>G (p.Asp4383Gly)
c.13301A>G (p.Asp4434Gly)
c.12881A>G (p.Asp4294Gly)
c.12206A>G (p.Asp4069Gly)
c.8390A>G (p.Asp2797Gly)
c.7943A>G (p.Asp2648Gly)
c.7280A>G (p.Asp2427Gly)
c.11795A>G (p.Asp3932Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13708268T>GCA359197618DNAH5n.526A>C
c.13193A>C (p.Asp4398Ala)
c.13148A>C (p.Asp4383Ala)
c.13301A>C (p.Asp4434Ala)
c.12881A>C (p.Asp4294Ala)
c.12206A>C (p.Asp4069Ala)
c.8390A>C (p.Asp2797Ala)
c.7943A>C (p.Asp2648Ala)
c.7280A>C (p.Asp2427Ala)
c.11795A>C (p.Asp3932Ala)
5g.13708268T=CA1528403785DNAH5n.526A=
c.13193A= (p.Asp4398=)
c.13148A= (p.Asp4383=)
c.13301A= (p.Asp4434=)
c.12881A= (p.Asp4294=)
c.12206A= (p.Asp4069=)
c.8390A= (p.Asp2797=)
c.7943A= (p.Asp2648=)
c.7280A= (p.Asp2427=)
c.11795A= (p.Asp3932=)
5g.13708269C>ACA359197621DNAH5n.525G>T
c.13192G>T (p.Asp4398Tyr)
c.13147G>T (p.Asp4383Tyr)
c.13300G>T (p.Asp4434Tyr)
c.12880G>T (p.Asp4294Tyr)
c.12205G>T (p.Asp4069Tyr)
c.8389G>T (p.Asp2797Tyr)
c.7942G>T (p.Asp2648Tyr)
c.7279G>T (p.Asp2427Tyr)
c.11794G>T (p.Asp3932Tyr)
5g.13708269C=CA1528403786DNAH5n.525G=
c.13192G= (p.Asp4398=)
c.13147G= (p.Asp4383=)
c.13300G= (p.Asp4434=)
c.12880G= (p.Asp4294=)
c.12205G= (p.Asp4069=)
c.8389G= (p.Asp2797=)
c.7942G= (p.Asp2648=)
c.7279G= (p.Asp2427=)
c.11794G= (p.Asp3932=)
5g.13708269C>GCA359197623DNAH5n.525G>C
c.13192G>C (p.Asp4398His)
c.13147G>C (p.Asp4383His)
c.13300G>C (p.Asp4434His)
c.12880G>C (p.Asp4294His)
c.12205G>C (p.Asp4069His)
c.8389G>C (p.Asp2797His)
c.7942G>C (p.Asp2648His)
c.7279G>C (p.Asp2427His)
c.11794G>C (p.Asp3932His)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
5g.13708269C>TCA359197627DNAH5n.525G>A
c.13192G>A (p.Asp4398Asn)
c.13147G>A (p.Asp4383Asn)
c.13300G>A (p.Asp4434Asn)
c.12880G>A (p.Asp4294Asn)
c.12205G>A (p.Asp4069Asn)
c.8389G>A (p.Asp2797Asn)
c.7942G>A (p.Asp2648Asn)
c.7279G>A (p.Asp2427Asn)
c.11794G>A (p.Asp3932Asn)
5g.13708270T>ACA443251331DNAH5n.524A>T
c.13191A>T (p.Ile4397=)
c.13146A>T (p.Ile4382=)
c.13299A>T (p.Ile4433=)
c.12879A>T (p.Ile4293=)
c.12204A>T (p.Ile4068=)
c.8388A>T (p.Ile2796=)
c.7941A>T (p.Ile2647=)
c.7278A>T (p.Ile2426=)
c.11793A>T (p.Ile3931=)
 dbSNP gnomAD v3 gnomAD v4
5g.13708270T>CCA359197632DNAH5n.524A>G
c.13191A>G (p.Ile4397Met)
c.13146A>G (p.Ile4382Met)
c.13299A>G (p.Ile4433Met)
c.12879A>G (p.Ile4293Met)
c.12204A>G (p.Ile4068Met)
c.8388A>G (p.Ile2796Met)
c.7941A>G (p.Ile2647Met)
c.7278A>G (p.Ile2426Met)
c.11793A>G (p.Ile3931Met)
5g.13708270T>GCA443251333DNAH5n.524A>C
c.13191A>C (p.Ile4397=)
c.13146A>C (p.Ile4382=)
c.13299A>C (p.Ile4433=)
c.12879A>C (p.Ile4293=)
c.12204A>C (p.Ile4068=)
c.8388A>C (p.Ile2796=)
c.7941A>C (p.Ile2647=)
c.7278A>C (p.Ile2426=)
c.11793A>C (p.Ile3931=)
5g.13708270T=CA1528403787DNAH5n.524A=
c.13191A= (p.Ile4397=)
c.13146A= (p.Ile4382=)
c.13299A= (p.Ile4433=)
c.12879A= (p.Ile4293=)
c.12204A= (p.Ile4068=)
c.8388A= (p.Ile2796=)
c.7941A= (p.Ile2647=)
c.7278A= (p.Ile2426=)
c.11793A= (p.Ile3931=)
5g.13708271A>CCA359197651DNAH5n.523T>G
c.13190T>G (p.Ile4397Arg)
c.13145T>G (p.Ile4382Arg)
c.13298T>G (p.Ile4433Arg)
c.12878T>G (p.Ile4293Arg)
c.12203T>G (p.Ile4068Arg)
c.8387T>G (p.Ile2796Arg)
c.7940T>G (p.Ile2647Arg)
c.7277T>G (p.Ile2426Arg)
c.11792T>G (p.Ile3931Arg)
5g.13708271A>GCA359197644DNAH5n.523T>C
c.13190T>C (p.Ile4397Thr)
c.13145T>C (p.Ile4382Thr)
c.13298T>C (p.Ile4433Thr)
c.12878T>C (p.Ile4293Thr)
c.12203T>C (p.Ile4068Thr)
c.8387T>C (p.Ile2796Thr)
c.7940T>C (p.Ile2647Thr)
c.7277T>C (p.Ile2426Thr)
c.11792T>C (p.Ile3931Thr)
 gnomAD v4
5g.13708271A>TCA359197648DNAH5n.523T>A
c.13190T>A (p.Ile4397Lys)
c.13145T>A (p.Ile4382Lys)
c.13298T>A (p.Ile4433Lys)
c.12878T>A (p.Ile4293Lys)
c.12203T>A (p.Ile4068Lys)
c.8387T>A (p.Ile2796Lys)
c.7940T>A (p.Ile2647Lys)
c.7277T>A (p.Ile2426Lys)
c.11792T>A (p.Ile3931Lys)
5g.13708272T>ACA359197662DNAH5n.522A>T
c.13189A>T (p.Ile4397Leu)
c.13144A>T (p.Ile4382Leu)
c.13297A>T (p.Ile4433Leu)
c.12877A>T (p.Ile4293Leu)
c.12202A>T (p.Ile4068Leu)
c.8386A>T (p.Ile2796Leu)
c.7939A>T (p.Ile2647Leu)
c.7276A>T (p.Ile2426Leu)
c.11791A>T (p.Ile3931Leu)
5g.13708272T>CCA359197673DNAH5n.522A>G
c.13189A>G (p.Ile4397Val)
c.13144A>G (p.Ile4382Val)
c.13297A>G (p.Ile4433Val)
c.12877A>G (p.Ile4293Val)
c.12202A>G (p.Ile4068Val)
c.8386A>G (p.Ile2796Val)
c.7939A>G (p.Ile2647Val)
c.7276A>G (p.Ile2426Val)
c.11791A>G (p.Ile3931Val)
5g.13708272T>GCA359197678DNAH5n.522A>C
c.13189A>C (p.Ile4397Leu)
c.13144A>C (p.Ile4382Leu)
c.13297A>C (p.Ile4433Leu)
c.12877A>C (p.Ile4293Leu)
c.12202A>C (p.Ile4068Leu)
c.8386A>C (p.Ile2796Leu)
c.7939A>C (p.Ile2647Leu)
c.7276A>C (p.Ile2426Leu)
c.11791A>C (p.Ile3931Leu)
5g.13708273T>ACA359197690DNAH5n.521A>T
c.13188A>T (p.Glu4396Asp)
c.13143A>T (p.Glu4381Asp)
c.13296A>T (p.Glu4432Asp)
c.12876A>T (p.Glu4292Asp)
c.12201A>T (p.Glu4067Asp)
c.8385A>T (p.Glu2795Asp)
c.7938A>T (p.Glu2646Asp)
c.7275A>T (p.Glu2425Asp)
c.11790A>T (p.Glu3930Asp)
 dbSNP
5g.13708273T>CCA443251334DNAH5n.521A>G
c.13188A>G (p.Glu4396=)
c.13143A>G (p.Glu4381=)
c.13296A>G (p.Glu4432=)
c.12876A>G (p.Glu4292=)
c.12201A>G (p.Glu4067=)
c.8385A>G (p.Glu2795=)
c.7938A>G (p.Glu2646=)
c.7275A>G (p.Glu2425=)
c.11790A>G (p.Glu3930=)
 ClinVar dbSNP
5g.13708273T>GCA359197691DNAH5n.521A>C
c.13188A>C (p.Glu4396Asp)
c.13143A>C (p.Glu4381Asp)
c.13296A>C (p.Glu4432Asp)
c.12876A>C (p.Glu4292Asp)
c.12201A>C (p.Glu4067Asp)
c.8385A>C (p.Glu2795Asp)
c.7938A>C (p.Glu2646Asp)
c.7275A>C (p.Glu2425Asp)
c.11790A>C (p.Glu3930Asp)
5g.13708273T=CA1528403788DNAH5n.521A=
c.13188A= (p.Glu4396=)
c.13143A= (p.Glu4381=)
c.13296A= (p.Glu4432=)
c.12876A= (p.Glu4292=)
c.12201A= (p.Glu4067=)
c.8385A= (p.Glu2795=)
c.7938A= (p.Glu2646=)
c.7275A= (p.Glu2425=)
c.11790A= (p.Glu3930=)
5g.13708274T>ACA359197692DNAH5n.520A>T
c.13187A>T (p.Glu4396Val)
c.13142A>T (p.Glu4381Val)
c.13295A>T (p.Glu4432Val)
c.12875A>T (p.Glu4292Val)
c.12200A>T (p.Glu4067Val)
c.8384A>T (p.Glu2795Val)
c.7937A>T (p.Glu2646Val)
c.7274A>T (p.Glu2425Val)
c.11789A>T (p.Glu3930Val)
5g.13708274T>CCA359197693DNAH5n.520A>G
c.13187A>G (p.Glu4396Gly)
c.13142A>G (p.Glu4381Gly)
c.13295A>G (p.Glu4432Gly)
c.12875A>G (p.Glu4292Gly)
c.12200A>G (p.Glu4067Gly)
c.8384A>G (p.Glu2795Gly)
c.7937A>G (p.Glu2646Gly)
c.7274A>G (p.Glu2425Gly)
c.11789A>G (p.Glu3930Gly)
5g.13708274T>GCA359197697DNAH5n.520A>C
c.13187A>C (p.Glu4396Ala)
c.13142A>C (p.Glu4381Ala)
c.13295A>C (p.Glu4432Ala)
c.12875A>C (p.Glu4292Ala)
c.12200A>C (p.Glu4067Ala)
c.8384A>C (p.Glu2795Ala)
c.7937A>C (p.Glu2646Ala)
c.7274A>C (p.Glu2425Ala)
c.11789A>C (p.Glu3930Ala)
5g.13708275C>ACA359197708DNAH5n.519G>T
c.13186G>T (p.Glu4396Ter)
c.13141G>T (p.Glu4381Ter)
c.13294G>T (p.Glu4432Ter)
c.12874G>T (p.Glu4292Ter)
c.12199G>T (p.Glu4067Ter)
c.8383G>T (p.Glu2795Ter)
c.7936G>T (p.Glu2646Ter)
c.7273G>T (p.Glu2425Ter)
c.11788G>T (p.Glu3930Ter)
5g.13708275C>GCA359197712DNAH5n.519G>C
c.13186G>C (p.Glu4396Gln)
c.13141G>C (p.Glu4381Gln)
c.13294G>C (p.Glu4432Gln)
c.12874G>C (p.Glu4292Gln)
c.12199G>C (p.Glu4067Gln)
c.8383G>C (p.Glu2795Gln)
c.7936G>C (p.Glu2646Gln)
c.7273G>C (p.Glu2425Gln)
c.11788G>C (p.Glu3930Gln)
5g.13708275C>TCA359197716DNAH5n.519G>A
c.13186G>A (p.Glu4396Lys)
c.13141G>A (p.Glu4381Lys)
c.13294G>A (p.Glu4432Lys)
c.12874G>A (p.Glu4292Lys)
c.12199G>A (p.Glu4067Lys)
c.8383G>A (p.Glu2795Lys)
c.7936G>A (p.Glu2646Lys)
c.7273G>A (p.Glu2425Lys)
c.11788G>A (p.Glu3930Lys)
 COSMIC
5g.13708276C>ACA359197725DNAH5n.518G>T
c.13185G>T (p.Gln4395His)
c.13140G>T (p.Gln4380His)
c.13293G>T (p.Gln4431His)
c.12873G>T (p.Gln4291His)
c.12198G>T (p.Gln4066His)
c.8382G>T (p.Gln2794His)
c.7935G>T (p.Gln2645His)
c.7272G>T (p.Gln2424His)
c.11787G>T (p.Gln3929His)
5g.13708276C>GCA359197731DNAH5n.518G>C
c.13185G>C (p.Gln4395His)
c.13140G>C (p.Gln4380His)
c.13293G>C (p.Gln4431His)
c.12873G>C (p.Gln4291His)
c.12198G>C (p.Gln4066His)
c.8382G>C (p.Gln2794His)
c.7935G>C (p.Gln2645His)
c.7272G>C (p.Gln2424His)
c.11787G>C (p.Gln3929His)
5g.13708276C>TCA443251336DNAH5n.518G>A
c.13185G>A (p.Gln4395=)
c.13140G>A (p.Gln4380=)
c.13293G>A (p.Gln4431=)
c.12873G>A (p.Gln4291=)
c.12198G>A (p.Gln4066=)
c.8382G>A (p.Gln2794=)
c.7935G>A (p.Gln2645=)
c.7272G>A (p.Gln2424=)
c.11787G>A (p.Gln3929=)
5g.13708277T>ACA359197742DNAH5n.517A>T
c.13184A>T (p.Gln4395Leu)
c.13139A>T (p.Gln4380Leu)
c.13292A>T (p.Gln4431Leu)
c.12872A>T (p.Gln4291Leu)
c.12197A>T (p.Gln4066Leu)
c.8381A>T (p.Gln2794Leu)
c.7934A>T (p.Gln2645Leu)
c.7271A>T (p.Gln2424Leu)
c.11786A>T (p.Gln3929Leu)
5g.13708277T>CCA359197743DNAH5n.517A>G
c.13184A>G (p.Gln4395Arg)
c.13139A>G (p.Gln4380Arg)
c.13292A>G (p.Gln4431Arg)
c.12872A>G (p.Gln4291Arg)
c.12197A>G (p.Gln4066Arg)
c.8381A>G (p.Gln2794Arg)
c.7934A>G (p.Gln2645Arg)
c.7271A>G (p.Gln2424Arg)
c.11786A>G (p.Gln3929Arg)
5g.13708277T>GCA359197744DNAH5n.517A>C
c.13184A>C (p.Gln4395Pro)
c.13139A>C (p.Gln4380Pro)
c.13292A>C (p.Gln4431Pro)
c.12872A>C (p.Gln4291Pro)
c.12197A>C (p.Gln4066Pro)
c.8381A>C (p.Gln2794Pro)
c.7934A>C (p.Gln2645Pro)
c.7271A>C (p.Gln2424Pro)
c.11786A>C (p.Gln3929Pro)
5g.13708278G>ACA359197747DNAH5n.516C>T
c.13183C>T (p.Gln4395Ter)
c.13138C>T (p.Gln4380Ter)
c.13291C>T (p.Gln4431Ter)
c.12871C>T (p.Gln4291Ter)
c.12196C>T (p.Gln4066Ter)
c.8380C>T (p.Gln2794Ter)
c.7933C>T (p.Gln2645Ter)
c.7270C>T (p.Gln2424Ter)
c.11785C>T (p.Gln3929Ter)
5g.13708278G>CCA359197754DNAH5n.516C>G
c.13183C>G (p.Gln4395Glu)
c.13138C>G (p.Gln4380Glu)
c.13291C>G (p.Gln4431Glu)
c.12871C>G (p.Gln4291Glu)
c.12196C>G (p.Gln4066Glu)
c.8380C>G (p.Gln2794Glu)
c.7933C>G (p.Gln2645Glu)
c.7270C>G (p.Gln2424Glu)
c.11785C>G (p.Gln3929Glu)
5g.13708278G>TCA359197775DNAH5n.516C>A
c.13183C>A (p.Gln4395Lys)
c.13138C>A (p.Gln4380Lys)
c.13291C>A (p.Gln4431Lys)
c.12871C>A (p.Gln4291Lys)
c.12196C>A (p.Gln4066Lys)
c.8380C>A (p.Gln2794Lys)
c.7933C>A (p.Gln2645Lys)
c.7270C>A (p.Gln2424Lys)
c.11785C>A (p.Gln3929Lys)
5g.13708279C>ACA359197779DNAH5n.515G>T
c.13182G>T (p.Arg4394Ser)
c.13137G>T (p.Arg4379Ser)
c.13290G>T (p.Arg4430Ser)
c.12870G>T (p.Arg4290Ser)
c.12195G>T (p.Arg4065Ser)
c.8379G>T (p.Arg2793Ser)
c.7932G>T (p.Arg2644Ser)
c.7269G>T (p.Arg2423Ser)
c.11784G>T (p.Arg3928Ser)
5g.13708279C>GCA359197796DNAH5n.515G>C
c.13182G>C (p.Arg4394Ser)
c.13137G>C (p.Arg4379Ser)
c.13290G>C (p.Arg4430Ser)
c.12870G>C (p.Arg4290Ser)
c.12195G>C (p.Arg4065Ser)
c.8379G>C (p.Arg2793Ser)
c.7932G>C (p.Arg2644Ser)
c.7269G>C (p.Arg2423Ser)
c.11784G>C (p.Arg3928Ser)
5g.13708279C>TCA443251339DNAH5n.515G>A
c.13182G>A (p.Arg4394=)
c.13137G>A (p.Arg4379=)
c.13290G>A (p.Arg4430=)
c.12870G>A (p.Arg4290=)
c.12195G>A (p.Arg4065=)
c.8379G>A (p.Arg2793=)
c.7932G>A (p.Arg2644=)
c.7269G>A (p.Arg2423=)
c.11784G>A (p.Arg3928=)
5g.13708280C>ACA359197803DNAH5n.514G>T
c.13181G>T (p.Arg4394Met)
c.13136G>T (p.Arg4379Met)
c.13289G>T (p.Arg4430Met)
c.12869G>T (p.Arg4290Met)
c.12194G>T (p.Arg4065Met)
c.8378G>T (p.Arg2793Met)
c.7931G>T (p.Arg2644Met)
c.7268G>T (p.Arg2423Met)
c.11783G>T (p.Arg3928Met)
5g.13708280C=CA1528403789DNAH5n.514G=
c.13181G= (p.Arg4394=)
c.13136G= (p.Arg4379=)
c.13289G= (p.Arg4430=)
c.12869G= (p.Arg4290=)
c.12194G= (p.Arg4065=)
c.8378G= (p.Arg2793=)
c.7931G= (p.Arg2644=)
c.7268G= (p.Arg2423=)
c.11783G= (p.Arg3928=)
5g.13708280C>GCA359197812DNAH5n.514G>C
c.13181G>C (p.Arg4394Thr)
c.13136G>C (p.Arg4379Thr)
c.13289G>C (p.Arg4430Thr)
c.12869G>C (p.Arg4290Thr)
c.12194G>C (p.Arg4065Thr)
c.8378G>C (p.Arg2793Thr)
c.7931G>C (p.Arg2644Thr)
c.7268G>C (p.Arg2423Thr)
c.11783G>C (p.Arg3928Thr)
 dbSNP
5g.13708280C>TCA3201426DNAH5n.514G>A
c.13181G>A (p.Arg4394Lys)
c.13136G>A (p.Arg4379Lys)
c.13289G>A (p.Arg4430Lys)
c.12869G>A (p.Arg4290Lys)
c.12194G>A (p.Arg4065Lys)
c.8378G>A (p.Arg2793Lys)
c.7931G>A (p.Arg2644Lys)
c.7268G>A (p.Arg2423Lys)
c.11783G>A (p.Arg3928Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13708281T>ACA359197831DNAH5n.513A>T
c.13180A>T (p.Arg4394Trp)
c.13135A>T (p.Arg4379Trp)
c.13288A>T (p.Arg4430Trp)
c.12868A>T (p.Arg4290Trp)
c.12193A>T (p.Arg4065Trp)
c.8377A>T (p.Arg2793Trp)
c.7930A>T (p.Arg2644Trp)
c.7267A>T (p.Arg2423Trp)
c.11782A>T (p.Arg3928Trp)
5g.13708281T>CCA359197838DNAH5n.513A>G
c.13180A>G (p.Arg4394Gly)
c.13135A>G (p.Arg4379Gly)
c.13288A>G (p.Arg4430Gly)
c.12868A>G (p.Arg4290Gly)
c.12193A>G (p.Arg4065Gly)
c.8377A>G (p.Arg2793Gly)
c.7930A>G (p.Arg2644Gly)
c.7267A>G (p.Arg2423Gly)
c.11782A>G (p.Arg3928Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13708281T>GCA443251342DNAH5n.513A>C
c.13180A>C (p.Arg4394=)
c.13135A>C (p.Arg4379=)
c.13288A>C (p.Arg4430=)
c.12868A>C (p.Arg4290=)
c.12193A>C (p.Arg4065=)
c.8377A>C (p.Arg2793=)
c.7930A>C (p.Arg2644=)
c.7267A>C (p.Arg2423=)
c.11782A>C (p.Arg3928=)
5g.13708281T=CA1528403790DNAH5n.513A=
c.13180A= (p.Arg4394=)
c.13135A= (p.Arg4379=)
c.13288A= (p.Arg4430=)
c.12868A= (p.Arg4290=)
c.12193A= (p.Arg4065=)
c.8377A= (p.Arg2793=)
c.7930A= (p.Arg2644=)
c.7267A= (p.Arg2423=)
c.11782A= (p.Arg3928=)
5g.13708282G>ACA443251343DNAH5n.512C>T
c.13179C>T (p.Leu4393=)
c.13134C>T (p.Leu4378=)
c.13287C>T (p.Leu4429=)
c.12867C>T (p.Leu4289=)
c.12192C>T (p.Leu4064=)
c.8376C>T (p.Leu2792=)
c.7929C>T (p.Leu2643=)
c.7266C>T (p.Leu2422=)
c.11781C>T (p.Leu3927=)
 ClinVar
5g.13708282G>CCA443251344DNAH5n.512C>G
c.13179C>G (p.Leu4393=)
c.13134C>G (p.Leu4378=)
c.13287C>G (p.Leu4429=)
c.12867C>G (p.Leu4289=)
c.12192C>G (p.Leu4064=)
c.8376C>G (p.Leu2792=)
c.7929C>G (p.Leu2643=)
c.7266C>G (p.Leu2422=)
c.11781C>G (p.Leu3927=)
5g.13708282G>TCA443251345DNAH5n.512C>A
c.13179C>A (p.Leu4393=)
c.13134C>A (p.Leu4378=)
c.13287C>A (p.Leu4429=)
c.12867C>A (p.Leu4289=)
c.12192C>A (p.Leu4064=)
c.8376C>A (p.Leu2792=)
c.7929C>A (p.Leu2643=)
c.7266C>A (p.Leu2422=)
c.11781C>A (p.Leu3927=)
5g.13708283A>CCA359197844DNAH5n.511T>G
c.13178T>G (p.Leu4393Arg)
c.13133T>G (p.Leu4378Arg)
c.13286T>G (p.Leu4429Arg)
c.12866T>G (p.Leu4289Arg)
c.12191T>G (p.Leu4064Arg)
c.8375T>G (p.Leu2792Arg)
c.7928T>G (p.Leu2643Arg)
c.7265T>G (p.Leu2422Arg)
c.11780T>G (p.Leu3927Arg)
5g.13708283A>GCA359197854DNAH5n.511T>C
c.13178T>C (p.Leu4393Pro)
c.13133T>C (p.Leu4378Pro)
c.13286T>C (p.Leu4429Pro)
c.12866T>C (p.Leu4289Pro)
c.12191T>C (p.Leu4064Pro)
c.8375T>C (p.Leu2792Pro)
c.7928T>C (p.Leu2643Pro)
c.7265T>C (p.Leu2422Pro)
c.11780T>C (p.Leu3927Pro)
5g.13708283A>TCA359197849DNAH5n.511T>A
c.13178T>A (p.Leu4393His)
c.13133T>A (p.Leu4378His)
c.13286T>A (p.Leu4429His)
c.12866T>A (p.Leu4289His)
c.12191T>A (p.Leu4064His)
c.8375T>A (p.Leu2792His)
c.7928T>A (p.Leu2643His)
c.7265T>A (p.Leu2422His)
c.11780T>A (p.Leu3927His)
5g.13708284G>ACA359197859DNAH5n.510C>T
c.13177C>T (p.Leu4393Phe)
c.13132C>T (p.Leu4378Phe)
c.13285C>T (p.Leu4429Phe)
c.12865C>T (p.Leu4289Phe)
c.12190C>T (p.Leu4064Phe)
c.8374C>T (p.Leu2792Phe)
c.7927C>T (p.Leu2643Phe)
c.7264C>T (p.Leu2422Phe)
c.11779C>T (p.Leu3927Phe)
 dbSNP gnomAD v4
5g.13708284G>CCA359197861DNAH5n.510C>G
c.13177C>G (p.Leu4393Val)
c.13132C>G (p.Leu4378Val)
c.13285C>G (p.Leu4429Val)
c.12865C>G (p.Leu4289Val)
c.12190C>G (p.Leu4064Val)
c.8374C>G (p.Leu2792Val)
c.7927C>G (p.Leu2643Val)
c.7264C>G (p.Leu2422Val)
c.11779C>G (p.Leu3927Val)
5g.13708284G=CA1528403791DNAH5n.510C=
c.13177C= (p.Leu4393=)
c.13132C= (p.Leu4378=)
c.13285C= (p.Leu4429=)
c.12865C= (p.Leu4289=)
c.12190C= (p.Leu4064=)
c.8374C= (p.Leu2792=)
c.7927C= (p.Leu2643=)
c.7264C= (p.Leu2422=)
c.11779C= (p.Leu3927=)
5g.13708284G>TCA359197863DNAH5n.510C>A
c.13177C>A (p.Leu4393Ile)
c.13132C>A (p.Leu4378Ile)
c.13285C>A (p.Leu4429Ile)
c.12865C>A (p.Leu4289Ile)
c.12190C>A (p.Leu4064Ile)
c.8374C>A (p.Leu2792Ile)
c.7927C>A (p.Leu2643Ile)
c.7264C>A (p.Leu2422Ile)
c.11779C>A (p.Leu3927Ile)
5g.13708285G>ACA443251348DNAH5n.509C>T
c.13176C>T (p.Phe4392=)
c.13131C>T (p.Phe4377=)
c.13284C>T (p.Phe4428=)
c.12864C>T (p.Phe4288=)
c.12189C>T (p.Phe4063=)
c.8373C>T (p.Phe2791=)
c.7926C>T (p.Phe2642=)
c.7263C>T (p.Phe2421=)
c.11778C>T (p.Phe3926=)
 dbSNP COSMIC
5g.13708285G>CCA359197868DNAH5n.509C>G
c.13176C>G (p.Phe4392Leu)
c.13131C>G (p.Phe4377Leu)
c.13284C>G (p.Phe4428Leu)
c.12864C>G (p.Phe4288Leu)
c.12189C>G (p.Phe4063Leu)
c.8373C>G (p.Phe2791Leu)
c.7926C>G (p.Phe2642Leu)
c.7263C>G (p.Phe2421Leu)
c.11778C>G (p.Phe3926Leu)
5g.13708285G=CA1528403792DNAH5n.509C=
c.13176C= (p.Phe4392=)
c.13131C= (p.Phe4377=)
c.13284C= (p.Phe4428=)
c.12864C= (p.Phe4288=)
c.12189C= (p.Phe4063=)
c.8373C= (p.Phe2791=)
c.7926C= (p.Phe2642=)
c.7263C= (p.Phe2421=)
c.11778C= (p.Phe3926=)
5g.13708285G>TCA359197876DNAH5n.509C>A
c.13176C>A (p.Phe4392Leu)
c.13131C>A (p.Phe4377Leu)
c.13284C>A (p.Phe4428Leu)
c.12864C>A (p.Phe4288Leu)
c.12189C>A (p.Phe4063Leu)
c.8373C>A (p.Phe2791Leu)
c.7926C>A (p.Phe2642Leu)
c.7263C>A (p.Phe2421Leu)
c.11778C>A (p.Phe3926Leu)
5g.13708286A=CA1528403793DNAH5n.508T=
c.13175T= (p.Phe4392=)
c.13130T= (p.Phe4377=)
c.13283T= (p.Phe4428=)
c.12863T= (p.Phe4288=)
c.12188T= (p.Phe4063=)
c.8372T= (p.Phe2791=)
c.7925T= (p.Phe2642=)
c.7262T= (p.Phe2421=)
c.11777T= (p.Phe3926=)
5g.13708286A>CCA3201427DNAH5n.508T>G
c.13175T>G (p.Phe4392Cys)
c.13130T>G (p.Phe4377Cys)
c.13283T>G (p.Phe4428Cys)
c.12863T>G (p.Phe4288Cys)
c.12188T>G (p.Phe4063Cys)
c.8372T>G (p.Phe2791Cys)
c.7925T>G (p.Phe2642Cys)
c.7262T>G (p.Phe2421Cys)
c.11777T>G (p.Phe3926Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13708286A>GCA359197880DNAH5n.508T>C
c.13175T>C (p.Phe4392Ser)
c.13130T>C (p.Phe4377Ser)
c.13283T>C (p.Phe4428Ser)
c.12863T>C (p.Phe4288Ser)
c.12188T>C (p.Phe4063Ser)
c.8372T>C (p.Phe2791Ser)
c.7925T>C (p.Phe2642Ser)
c.7262T>C (p.Phe2421Ser)
c.11777T>C (p.Phe3926Ser)
5g.13708286A>TCA359197881DNAH5n.508T>A
c.13175T>A (p.Phe4392Tyr)
c.13130T>A (p.Phe4377Tyr)
c.13283T>A (p.Phe4428Tyr)
c.12863T>A (p.Phe4288Tyr)
c.12188T>A (p.Phe4063Tyr)
c.8372T>A (p.Phe2791Tyr)
c.7925T>A (p.Phe2642Tyr)
c.7262T>A (p.Phe2421Tyr)
c.11777T>A (p.Phe3926Tyr)
5g.13708287A=CA1528403794DNAH5n.507T=
c.13174T= (p.Phe4392=)
c.13129T= (p.Phe4377=)
c.13282T= (p.Phe4428=)
c.12862T= (p.Phe4288=)
c.12187T= (p.Phe4063=)
c.8371T= (p.Phe2791=)
c.7924T= (p.Phe2642=)
c.7261T= (p.Phe2421=)
c.11776T= (p.Phe3926=)
5g.13708287A>CCA359197885DNAH5n.507T>G
c.13174T>G (p.Phe4392Val)
c.13129T>G (p.Phe4377Val)
c.13282T>G (p.Phe4428Val)
c.12862T>G (p.Phe4288Val)
c.12187T>G (p.Phe4063Val)
c.8371T>G (p.Phe2791Val)
c.7924T>G (p.Phe2642Val)
c.7261T>G (p.Phe2421Val)
c.11776T>G (p.Phe3926Val)
5g.13708287A>GCA3201428DNAH5n.507T>C
c.13174T>C (p.Phe4392Leu)
c.13129T>C (p.Phe4377Leu)
c.13282T>C (p.Phe4428Leu)
c.12862T>C (p.Phe4288Leu)
c.12187T>C (p.Phe4063Leu)
c.8371T>C (p.Phe2791Leu)
c.7924T>C (p.Phe2642Leu)
c.7261T>C (p.Phe2421Leu)
c.11776T>C (p.Phe3926Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13708287A>TCA359197890DNAH5n.507T>A
c.13174T>A (p.Phe4392Ile)
c.13129T>A (p.Phe4377Ile)
c.13282T>A (p.Phe4428Ile)
c.12862T>A (p.Phe4288Ile)
c.12187T>A (p.Phe4063Ile)
c.8371T>A (p.Phe2791Ile)
c.7924T>A (p.Phe2642Ile)
c.7261T>A (p.Phe2421Ile)
c.11776T>A (p.Phe3926Ile)
5g.13708288A>CCA359197893DNAH5n.506T>G
c.13173T>G (p.Ile4391Met)
c.13128T>G (p.Ile4376Met)
c.13281T>G (p.Ile4427Met)
c.12861T>G (p.Ile4287Met)
c.12186T>G (p.Ile4062Met)
c.8370T>G (p.Ile2790Met)
c.7923T>G (p.Ile2641Met)
c.7260T>G (p.Ile2420Met)
c.11775T>G (p.Ile3925Met)
5g.13708288A>GCA443251353DNAH5n.506T>C
c.13173T>C (p.Ile4391=)
c.13128T>C (p.Ile4376=)
c.13281T>C (p.Ile4427=)
c.12861T>C (p.Ile4287=)
c.12186T>C (p.Ile4062=)
c.8370T>C (p.Ile2790=)
c.7923T>C (p.Ile2641=)
c.7260T>C (p.Ile2420=)
c.11775T>C (p.Ile3925=)
5g.13708288A>TCA443251355DNAH5n.506T>A
c.13173T>A (p.Ile4391=)
c.13128T>A (p.Ile4376=)
c.13281T>A (p.Ile4427=)
c.12861T>A (p.Ile4287=)
c.12186T>A (p.Ile4062=)
c.8370T>A (p.Ile2790=)
c.7923T>A (p.Ile2641=)
c.7260T>A (p.Ile2420=)
c.11775T>A (p.Ile3925=)
5g.13708289A>CCA359197896DNAH5n.505T>G
c.13172T>G (p.Ile4391Ser)
c.13127T>G (p.Ile4376Ser)
c.13280T>G (p.Ile4427Ser)
c.12860T>G (p.Ile4287Ser)
c.12185T>G (p.Ile4062Ser)
c.8369T>G (p.Ile2790Ser)
c.7922T>G (p.Ile2641Ser)
c.7259T>G (p.Ile2420Ser)
c.11774T>G (p.Ile3925Ser)
 gnomAD v4
5g.13708289A>GCA359197894DNAH5n.505T>C
c.13172T>C (p.Ile4391Thr)
c.13127T>C (p.Ile4376Thr)
c.13280T>C (p.Ile4427Thr)
c.12860T>C (p.Ile4287Thr)
c.12185T>C (p.Ile4062Thr)
c.8369T>C (p.Ile2790Thr)
c.7922T>C (p.Ile2641Thr)
c.7259T>C (p.Ile2420Thr)
c.11774T>C (p.Ile3925Thr)
5g.13708289A>TCA359197897DNAH5n.505T>A
c.13172T>A (p.Ile4391Asn)
c.13127T>A (p.Ile4376Asn)
c.13280T>A (p.Ile4427Asn)
c.12860T>A (p.Ile4287Asn)
c.12185T>A (p.Ile4062Asn)
c.8369T>A (p.Ile2790Asn)
c.7922T>A (p.Ile2641Asn)
c.7259T>A (p.Ile2420Asn)
c.11774T>A (p.Ile3925Asn)
 COSMIC
5g.13708290T>ACA359197903DNAH5n.504A>T
c.13171A>T (p.Ile4391Phe)
c.13126A>T (p.Ile4376Phe)
c.13279A>T (p.Ile4427Phe)
c.12859A>T (p.Ile4287Phe)
c.12184A>T (p.Ile4062Phe)
c.8368A>T (p.Ile2790Phe)
c.7921A>T (p.Ile2641Phe)
c.7258A>T (p.Ile2420Phe)
c.11773A>T (p.Ile3925Phe)
5g.13708290T>CCA359197910DNAH5n.504A>G
c.13171A>G (p.Ile4391Val)
c.13126A>G (p.Ile4376Val)
c.13279A>G (p.Ile4427Val)
c.12859A>G (p.Ile4287Val)
c.12184A>G (p.Ile4062Val)
c.8368A>G (p.Ile2790Val)
c.7921A>G (p.Ile2641Val)
c.7258A>G (p.Ile2420Val)
c.11773A>G (p.Ile3925Val)
 gnomAD v4
5g.13708290T>GCA359197924DNAH5n.504A>C
c.13171A>C (p.Ile4391Leu)
c.13126A>C (p.Ile4376Leu)
c.13279A>C (p.Ile4427Leu)
c.12859A>C (p.Ile4287Leu)
c.12184A>C (p.Ile4062Leu)
c.8368A>C (p.Ile2790Leu)
c.7921A>C (p.Ile2641Leu)
c.7258A>C (p.Ile2420Leu)
c.11773A>C (p.Ile3925Leu)
5g.13708291G>ACA443251358DNAH5n.503C>T
c.13170C>T (p.Asn4390=)
c.13125C>T (p.Asn4375=)
c.13278C>T (p.Asn4426=)
c.12858C>T (p.Asn4286=)
c.12183C>T (p.Asn4061=)
c.8367C>T (p.Asn2789=)
c.7920C>T (p.Asn2640=)
c.7257C>T (p.Asn2419=)
c.11772C>T (p.Asn3924=)
 gnomAD v4
5g.13708291G>CCA359197927DNAH5n.503C>G
c.13170C>G (p.Asn4390Lys)
c.13125C>G (p.Asn4375Lys)
c.13278C>G (p.Asn4426Lys)
c.12858C>G (p.Asn4286Lys)
c.12183C>G (p.Asn4061Lys)
c.8367C>G (p.Asn2789Lys)
c.7920C>G (p.Asn2640Lys)
c.7257C>G (p.Asn2419Lys)
c.11772C>G (p.Asn3924Lys)
5g.13708291G>TCA359197934DNAH5n.503C>A
c.13170C>A (p.Asn4390Lys)
c.13125C>A (p.Asn4375Lys)
c.13278C>A (p.Asn4426Lys)
c.12858C>A (p.Asn4286Lys)
c.12183C>A (p.Asn4061Lys)
c.8367C>A (p.Asn2789Lys)
c.7920C>A (p.Asn2640Lys)
c.7257C>A (p.Asn2419Lys)
c.11772C>A (p.Asn3924Lys)
5g.13708292T>ACA359197944DNAH5n.502A>T
c.13169A>T (p.Asn4390Ile)
c.13124A>T (p.Asn4375Ile)
c.13277A>T (p.Asn4426Ile)
c.12857A>T (p.Asn4286Ile)
c.12182A>T (p.Asn4061Ile)
c.8366A>T (p.Asn2789Ile)
c.7919A>T (p.Asn2640Ile)
c.7256A>T (p.Asn2419Ile)
c.11771A>T (p.Asn3924Ile)
5g.13708292T>CCA359197952DNAH5n.502A>G
c.13169A>G (p.Asn4390Ser)
c.13124A>G (p.Asn4375Ser)
c.13277A>G (p.Asn4426Ser)
c.12857A>G (p.Asn4286Ser)
c.12182A>G (p.Asn4061Ser)
c.8366A>G (p.Asn2789Ser)
c.7919A>G (p.Asn2640Ser)
c.7256A>G (p.Asn2419Ser)
c.11771A>G (p.Asn3924Ser)
5g.13708292T>GCA359197967DNAH5n.502A>C
c.13169A>C (p.Asn4390Thr)
c.13124A>C (p.Asn4375Thr)
c.13277A>C (p.Asn4426Thr)
c.12857A>C (p.Asn4286Thr)
c.12182A>C (p.Asn4061Thr)
c.8366A>C (p.Asn2789Thr)
c.7919A>C (p.Asn2640Thr)
c.7256A>C (p.Asn2419Thr)
c.11771A>C (p.Asn3924Thr)
5g.13708293T>ACA359197976DNAH5n.501A>T
c.13168A>T (p.Asn4390Tyr)
c.13123A>T (p.Asn4375Tyr)
c.13276A>T (p.Asn4426Tyr)
c.12856A>T (p.Asn4286Tyr)
c.12181A>T (p.Asn4061Tyr)
c.8365A>T (p.Asn2789Tyr)
c.7918A>T (p.Asn2640Tyr)
c.7255A>T (p.Asn2419Tyr)
c.11770A>T (p.Asn3924Tyr)
5g.13708293T>CCA359197980DNAH5n.501A>G
c.13168A>G (p.Asn4390Asp)
c.13123A>G (p.Asn4375Asp)
c.13276A>G (p.Asn4426Asp)
c.12856A>G (p.Asn4286Asp)
c.12181A>G (p.Asn4061Asp)
c.8365A>G (p.Asn2789Asp)
c.7918A>G (p.Asn2640Asp)
c.7255A>G (p.Asn2419Asp)
c.11770A>G (p.Asn3924Asp)
5g.13708293T>GCA359197987DNAH5n.501A>C
c.13168A>C (p.Asn4390His)
c.13123A>C (p.Asn4375His)
c.13276A>C (p.Asn4426His)
c.12856A>C (p.Asn4286His)
c.12181A>C (p.Asn4061His)
c.8365A>C (p.Asn2789His)
c.7918A>C (p.Asn2640His)
c.7255A>C (p.Asn2419His)
c.11770A>C (p.Asn3924His)
5g.13708294C>ACA3201429DNAH5n.500G>T
c.13167G>T (p.Met4389Ile)
c.13122G>T (p.Met4374Ile)
c.13275G>T (p.Met4425Ile)
c.12855G>T (p.Met4285Ile)
c.12180G>T (p.Met4060Ile)
c.8364G>T (p.Met2788Ile)
c.7917G>T (p.Met2639Ile)
c.7254G>T (p.Met2418Ile)
c.11769G>T (p.Met3923Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13708294C=CA1528403795DNAH5n.500G=
c.13167G= (p.Met4389=)
c.13122G= (p.Met4374=)
c.13275G= (p.Met4425=)
c.12855G= (p.Met4285=)
c.12180G= (p.Met4060=)
c.8364G= (p.Met2788=)
c.7917G= (p.Met2639=)
c.7254G= (p.Met2418=)
c.11769G= (p.Met3923=)
5g.13708294C>GCA359197991DNAH5n.500G>C
c.13167G>C (p.Met4389Ile)
c.13122G>C (p.Met4374Ile)
c.13275G>C (p.Met4425Ile)
c.12855G>C (p.Met4285Ile)
c.12180G>C (p.Met4060Ile)
c.8364G>C (p.Met2788Ile)
c.7917G>C (p.Met2639Ile)
c.7254G>C (p.Met2418Ile)
c.11769G>C (p.Met3923Ile)
5g.13708294C>TCA113911062DNAH5n.500G>A
c.13167G>A (p.Met4389Ile)
c.13122G>A (p.Met4374Ile)
c.13275G>A (p.Met4425Ile)
c.12855G>A (p.Met4285Ile)
c.12180G>A (p.Met4060Ile)
c.8364G>A (p.Met2788Ile)
c.7917G>A (p.Met2639Ile)
c.7254G>A (p.Met2418Ile)
c.11769G>A (p.Met3923Ile)
 dbSNP
5g.13708295A=CA1528403796DNAH5n.499T=
c.13166T= (p.Met4389=)
c.13121T= (p.Met4374=)
c.13274T= (p.Met4425=)
c.12854T= (p.Met4285=)
c.12179T= (p.Met4060=)
c.8363T= (p.Met2788=)
c.7916T= (p.Met2639=)
c.7253T= (p.Met2418=)
c.11768T= (p.Met3923=)
5g.13708295A>CCA359197999DNAH5n.499T>G
c.13166T>G (p.Met4389Arg)
c.13121T>G (p.Met4374Arg)
c.13274T>G (p.Met4425Arg)
c.12854T>G (p.Met4285Arg)
c.12179T>G (p.Met4060Arg)
c.8363T>G (p.Met2788Arg)
c.7916T>G (p.Met2639Arg)
c.7253T>G (p.Met2418Arg)
c.11768T>G (p.Met3923Arg)
5g.13708295A>GCA3201430DNAH5n.499T>C
c.13166T>C (p.Met4389Thr)
c.13121T>C (p.Met4374Thr)
c.13274T>C (p.Met4425Thr)
c.12854T>C (p.Met4285Thr)
c.12179T>C (p.Met4060Thr)
c.8363T>C (p.Met2788Thr)
c.7916T>C (p.Met2639Thr)
c.7253T>C (p.Met2418Thr)
c.11768T>C (p.Met3923Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13708295A>TCA359198024DNAH5n.499T>A
c.13166T>A (p.Met4389Lys)
c.13121T>A (p.Met4374Lys)
c.13274T>A (p.Met4425Lys)
c.12854T>A (p.Met4285Lys)
c.12179T>A (p.Met4060Lys)
c.8363T>A (p.Met2788Lys)
c.7916T>A (p.Met2639Lys)
c.7253T>A (p.Met2418Lys)
c.11768T>A (p.Met3923Lys)
5g.13708296T>ACA359198038DNAH5n.498A>T
c.13165A>T (p.Met4389Leu)
c.13120A>T (p.Met4374Leu)
c.13273A>T (p.Met4425Leu)
c.12853A>T (p.Met4285Leu)
c.12178A>T (p.Met4060Leu)
c.8362A>T (p.Met2788Leu)
c.7915A>T (p.Met2639Leu)
c.7252A>T (p.Met2418Leu)
c.11767A>T (p.Met3923Leu)
 dbSNP gnomAD v3 gnomAD v4
5g.13708296T>CCA3201431DNAH5n.498A>G
c.13165A>G (p.Met4389Val)
c.13120A>G (p.Met4374Val)
c.13273A>G (p.Met4425Val)
c.12853A>G (p.Met4285Val)
c.12178A>G (p.Met4060Val)
c.8362A>G (p.Met2788Val)
c.7915A>G (p.Met2639Val)
c.7252A>G (p.Met2418Val)
c.11767A>G (p.Met3923Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13708296T>GCA359198054DNAH5n.498A>C
c.13165A>C (p.Met4389Leu)
c.13120A>C (p.Met4374Leu)
c.13273A>C (p.Met4425Leu)
c.12853A>C (p.Met4285Leu)
c.12178A>C (p.Met4060Leu)
c.8362A>C (p.Met2788Leu)
c.7915A>C (p.Met2639Leu)
c.7252A>C (p.Met2418Leu)
c.11767A>C (p.Met3923Leu)
5g.13708296T=CA1528403797DNAH5n.498A=
c.13165A= (p.Met4389=)
c.13120A= (p.Met4374=)
c.13273A= (p.Met4425=)
c.12853A= (p.Met4285=)
c.12178A= (p.Met4060=)
c.8362A= (p.Met2788=)
c.7915A= (p.Met2639=)
c.7252A= (p.Met2418=)
c.11767A= (p.Met3923=)
5g.13708297A>CCA443251365DNAH5n.497T>G
c.13164T>G (p.Pro4388=)
c.13119T>G (p.Pro4373=)
c.13272T>G (p.Pro4424=)
c.12852T>G (p.Pro4284=)
c.12177T>G (p.Pro4059=)
c.8361T>G (p.Pro2787=)
c.7914T>G (p.Pro2638=)
c.7251T>G (p.Pro2417=)
c.11766T>G (p.Pro3922=)
5g.13708297A>GCA443251363DNAH5n.497T>C
c.13164T>C (p.Pro4388=)
c.13119T>C (p.Pro4373=)
c.13272T>C (p.Pro4424=)
c.12852T>C (p.Pro4284=)
c.12177T>C (p.Pro4059=)
c.8361T>C (p.Pro2787=)
c.7914T>C (p.Pro2638=)
c.7251T>C (p.Pro2417=)
c.11766T>C (p.Pro3922=)
5g.13708297A>TCA443251362DNAH5n.497T>A
c.13164T>A (p.Pro4388=)
c.13119T>A (p.Pro4373=)
c.13272T>A (p.Pro4424=)
c.12852T>A (p.Pro4284=)
c.12177T>A (p.Pro4059=)
c.8361T>A (p.Pro2787=)
c.7914T>A (p.Pro2638=)
c.7251T>A (p.Pro2417=)
c.11766T>A (p.Pro3922=)
 ClinVar dbSNP
5g.13708298G>ACA359198058DNAH5n.496C>T
c.13163C>T (p.Pro4388Leu)
c.13118C>T (p.Pro4373Leu)
c.13271C>T (p.Pro4424Leu)
c.12851C>T (p.Pro4284Leu)
c.12176C>T (p.Pro4059Leu)
c.8360C>T (p.Pro2787Leu)
c.7913C>T (p.Pro2638Leu)
c.7250C>T (p.Pro2417Leu)
c.11765C>T (p.Pro3922Leu)
5g.13708298G>CCA359198063DNAH5n.496C>G
c.13163C>G (p.Pro4388Arg)
c.13118C>G (p.Pro4373Arg)
c.13271C>G (p.Pro4424Arg)
c.12851C>G (p.Pro4284Arg)
c.12176C>G (p.Pro4059Arg)
c.8360C>G (p.Pro2787Arg)
c.7913C>G (p.Pro2638Arg)
c.7250C>G (p.Pro2417Arg)
c.11765C>G (p.Pro3922Arg)
5g.13708298G>TCA359198067DNAH5n.496C>A
c.13163C>A (p.Pro4388His)
c.13118C>A (p.Pro4373His)
c.13271C>A (p.Pro4424His)
c.12851C>A (p.Pro4284His)
c.12176C>A (p.Pro4059His)
c.8360C>A (p.Pro2787His)
c.7913C>A (p.Pro2638His)
c.7250C>A (p.Pro2417His)
c.11765C>A (p.Pro3922His)
5g.13708299G>ACA359198068DNAH5n.495C>T
c.13162C>T (p.Pro4388Ser)
c.13117C>T (p.Pro4373Ser)
c.13270C>T (p.Pro4424Ser)
c.12850C>T (p.Pro4284Ser)
c.12175C>T (p.Pro4059Ser)
c.8359C>T (p.Pro2787Ser)
c.7912C>T (p.Pro2638Ser)
c.7249C>T (p.Pro2417Ser)
c.11764C>T (p.Pro3922Ser)
 dbSNP gnomAD v3 gnomAD v4
5g.13708299G>CCA359198069DNAH5n.495C>G
c.13162C>G (p.Pro4388Ala)
c.13117C>G (p.Pro4373Ala)
c.13270C>G (p.Pro4424Ala)
c.12850C>G (p.Pro4284Ala)
c.12175C>G (p.Pro4059Ala)
c.8359C>G (p.Pro2787Ala)
c.7912C>G (p.Pro2638Ala)
c.7249C>G (p.Pro2417Ala)
c.11764C>G (p.Pro3922Ala)
5g.13708299G=CA1528403798DNAH5n.495C=
c.13162C= (p.Pro4388=)
c.13117C= (p.Pro4373=)
c.13270C= (p.Pro4424=)
c.12850C= (p.Pro4284=)
c.12175C= (p.Pro4059=)
c.8359C= (p.Pro2787=)
c.7912C= (p.Pro2638=)
c.7249C= (p.Pro2417=)
c.11764C= (p.Pro3922=)
5g.13708299G>TCA359198073DNAH5n.495C>A
c.13162C>A (p.Pro4388Thr)
c.13117C>A (p.Pro4373Thr)
c.13270C>A (p.Pro4424Thr)
c.12850C>A (p.Pro4284Thr)
c.12175C>A (p.Pro4059Thr)
c.8359C>A (p.Pro2787Thr)
c.7912C>A (p.Pro2638Thr)
c.7249C>A (p.Pro2417Thr)
c.11764C>A (p.Pro3922Thr)
5g.13708300C>ACA359198078DNAH5n.494G>T
c.13161G>T (p.Gln4387His)
c.13116G>T (p.Gln4372His)
c.13269G>T (p.Gln4423His)
c.12849G>T (p.Gln4283His)
c.12174G>T (p.Gln4058His)
c.8358G>T (p.Gln2786His)
c.7911G>T (p.Gln2637His)
c.7248G>T (p.Gln2416His)
c.11763G>T (p.Gln3921His)
5g.13708300C>GCA359198077DNAH5n.494G>C
c.13161G>C (p.Gln4387His)
c.13116G>C (p.Gln4372His)
c.13269G>C (p.Gln4423His)
c.12849G>C (p.Gln4283His)
c.12174G>C (p.Gln4058His)
c.8358G>C (p.Gln2786His)
c.7911G>C (p.Gln2637His)
c.7248G>C (p.Gln2416His)
c.11763G>C (p.Gln3921His)
5g.13708300C>TCA443251367DNAH5n.494G>A
c.13161G>A (p.Gln4387=)
c.13116G>A (p.Gln4372=)
c.13269G>A (p.Gln4423=)
c.12849G>A (p.Gln4283=)
c.12174G>A (p.Gln4058=)
c.8358G>A (p.Gln2786=)
c.7911G>A (p.Gln2637=)
c.7248G>A (p.Gln2416=)
c.11763G>A (p.Gln3921=)
5g.13708301T>ACA359198079DNAH5n.493A>T
c.13160A>T (p.Gln4387Leu)
c.13115A>T (p.Gln4372Leu)
c.13268A>T (p.Gln4423Leu)
c.12848A>T (p.Gln4283Leu)
c.12173A>T (p.Gln4058Leu)
c.8357A>T (p.Gln2786Leu)
c.7910A>T (p.Gln2637Leu)
c.7247A>T (p.Gln2416Leu)
c.11762A>T (p.Gln3921Leu)
5g.13708301T>CCA359198081DNAH5n.493A>G
c.13160A>G (p.Gln4387Arg)
c.13115A>G (p.Gln4372Arg)
c.13268A>G (p.Gln4423Arg)
c.12848A>G (p.Gln4283Arg)
c.12173A>G (p.Gln4058Arg)
c.8357A>G (p.Gln2786Arg)
c.7910A>G (p.Gln2637Arg)
c.7247A>G (p.Gln2416Arg)
c.11762A>G (p.Gln3921Arg)
5g.13708301T>GCA359198082DNAH5n.493A>C
c.13160A>C (p.Gln4387Pro)
c.13115A>C (p.Gln4372Pro)
c.13268A>C (p.Gln4423Pro)
c.12848A>C (p.Gln4283Pro)
c.12173A>C (p.Gln4058Pro)
c.8357A>C (p.Gln2786Pro)
c.7910A>C (p.Gln2637Pro)
c.7247A>C (p.Gln2416Pro)
c.11762A>C (p.Gln3921Pro)
 dbSNP gnomAD v3 gnomAD v4
5g.13708301T=CA1528403799DNAH5n.493A=
c.13160A= (p.Gln4387=)
c.13115A= (p.Gln4372=)
c.13268A= (p.Gln4423=)
c.12848A= (p.Gln4283=)
c.12173A= (p.Gln4058=)
c.8357A= (p.Gln2786=)
c.7910A= (p.Gln2637=)
c.7247A= (p.Gln2416=)
c.11762A= (p.Gln3921=)
5g.13708302G>ACA359198088DNAH5n.492C>T
c.13159C>T (p.Gln4387Ter)
c.13114C>T (p.Gln4372Ter)
c.13267C>T (p.Gln4423Ter)
c.12847C>T (p.Gln4283Ter)
c.12172C>T (p.Gln4058Ter)
c.8356C>T (p.Gln2786Ter)
c.7909C>T (p.Gln2637Ter)
c.7246C>T (p.Gln2416Ter)
c.11761C>T (p.Gln3921Ter)
 ClinVar dbSNP COSMIC
5g.13708302G>CCA359198092DNAH5n.492C>G
c.13159C>G (p.Gln4387Glu)
c.13114C>G (p.Gln4372Glu)
c.13267C>G (p.Gln4423Glu)
c.12847C>G (p.Gln4283Glu)
c.12172C>G (p.Gln4058Glu)
c.8356C>G (p.Gln2786Glu)
c.7909C>G (p.Gln2637Glu)
c.7246C>G (p.Gln2416Glu)
c.11761C>G (p.Gln3921Glu)
5g.13708302G=CA1528403800DNAH5n.492C=
c.13159C= (p.Gln4387=)
c.13114C= (p.Gln4372=)
c.13267C= (p.Gln4423=)
c.12847C= (p.Gln4283=)
c.12172C= (p.Gln4058=)
c.8356C= (p.Gln2786=)
c.7909C= (p.Gln2637=)
c.7246C= (p.Gln2416=)
c.11761C= (p.Gln3921=)
5g.13708302G>TCA359198095DNAH5n.492C>A
c.13159C>A (p.Gln4387Lys)
c.13114C>A (p.Gln4372Lys)
c.13267C>A (p.Gln4423Lys)
c.12847C>A (p.Gln4283Lys)
c.12172C>A (p.Gln4058Lys)
c.8356C>A (p.Gln2786Lys)
c.7909C>A (p.Gln2637Lys)
c.7246C>A (p.Gln2416Lys)
c.11761C>A (p.Gln3921Lys)
 dbSNP gnomAD v2 gnomAD v4
5g.13708303G>ACA3201432DNAH5n.491C>T
c.13158C>T (p.Phe4386=)
c.13113C>T (p.Phe4371=)
c.13266C>T (p.Phe4422=)
c.12846C>T (p.Phe4282=)
c.12171C>T (p.Phe4057=)
c.8355C>T (p.Phe2785=)
c.7908C>T (p.Phe2636=)
c.7245C>T (p.Phe2415=)
c.11760C>T (p.Phe3920=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13708303G>CCA359198096DNAH5n.491C>G
c.13158C>G (p.Phe4386Leu)
c.13113C>G (p.Phe4371Leu)
c.13266C>G (p.Phe4422Leu)
c.12846C>G (p.Phe4282Leu)
c.12171C>G (p.Phe4057Leu)
c.8355C>G (p.Phe2785Leu)
c.7908C>G (p.Phe2636Leu)
c.7245C>G (p.Phe2415Leu)
c.11760C>G (p.Phe3920Leu)
5g.13708303G=CA1528403801DNAH5n.491C=
c.13158C= (p.Phe4386=)
c.13113C= (p.Phe4371=)
c.13266C= (p.Phe4422=)
c.12846C= (p.Phe4282=)
c.12171C= (p.Phe4057=)
c.8355C= (p.Phe2785=)
c.7908C= (p.Phe2636=)
c.7245C= (p.Phe2415=)
c.11760C= (p.Phe3920=)
5g.13708303G>TCA359198101DNAH5n.491C>A
c.13158C>A (p.Phe4386Leu)
c.13113C>A (p.Phe4371Leu)
c.13266C>A (p.Phe4422Leu)
c.12846C>A (p.Phe4282Leu)
c.12171C>A (p.Phe4057Leu)
c.8355C>A (p.Phe2785Leu)
c.7908C>A (p.Phe2636Leu)
c.7245C>A (p.Phe2415Leu)
c.11760C>A (p.Phe3920Leu)
5g.13708304A=CA1528403802DNAH5n.490T=
c.13157T= (p.Phe4386=)
c.13112T= (p.Phe4371=)
c.13265T= (p.Phe4422=)
c.12845T= (p.Phe4282=)
c.12170T= (p.Phe4057=)
c.8354T= (p.Phe2785=)
c.7907T= (p.Phe2636=)
c.7244T= (p.Phe2415=)
c.11759T= (p.Phe3920=)
5g.13708304A>CCA113911102DNAH5n.490T>G
c.13157T>G (p.Phe4386Cys)
c.13112T>G (p.Phe4371Cys)
c.13265T>G (p.Phe4422Cys)
c.12845T>G (p.Phe4282Cys)
c.12170T>G (p.Phe4057Cys)
c.8354T>G (p.Phe2785Cys)
c.7907T>G (p.Phe2636Cys)
c.7244T>G (p.Phe2415Cys)
c.11759T>G (p.Phe3920Cys)
 dbSNP gnomAD v3 gnomAD v4
5g.13708304A>GCA359198123DNAH5n.490T>C
c.13157T>C (p.Phe4386Ser)
c.13112T>C (p.Phe4371Ser)
c.13265T>C (p.Phe4422Ser)
c.12845T>C (p.Phe4282Ser)
c.12170T>C (p.Phe4057Ser)
c.8354T>C (p.Phe2785Ser)
c.7907T>C (p.Phe2636Ser)
c.7244T>C (p.Phe2415Ser)
c.11759T>C (p.Phe3920Ser)
 dbSNP
5g.13708304A>TCA359198134DNAH5n.490T>A
c.13157T>A (p.Phe4386Tyr)
c.13112T>A (p.Phe4371Tyr)
c.13265T>A (p.Phe4422Tyr)
c.12845T>A (p.Phe4282Tyr)
c.12170T>A (p.Phe4057Tyr)
c.8354T>A (p.Phe2785Tyr)
c.7907T>A (p.Phe2636Tyr)
c.7244T>A (p.Phe2415Tyr)
c.11759T>A (p.Phe3920Tyr)
5g.13708305A>CCA359198140DNAH5n.489T>G
c.13156T>G (p.Phe4386Val)
c.13111T>G (p.Phe4371Val)
c.13264T>G (p.Phe4422Val)
c.12844T>G (p.Phe4282Val)
c.12169T>G (p.Phe4057Val)
c.8353T>G (p.Phe2785Val)
c.7906T>G (p.Phe2636Val)
c.7243T>G (p.Phe2415Val)
c.11758T>G (p.Phe3920Val)
5g.13708305A>GCA359198143DNAH5n.489T>C
c.13156T>C (p.Phe4386Leu)
c.13111T>C (p.Phe4371Leu)
c.13264T>C (p.Phe4422Leu)
c.12844T>C (p.Phe4282Leu)
c.12169T>C (p.Phe4057Leu)
c.8353T>C (p.Phe2785Leu)
c.7906T>C (p.Phe2636Leu)
c.7243T>C (p.Phe2415Leu)
c.11758T>C (p.Phe3920Leu)
5g.13708305A>TCA359198139DNAH5n.489T>A
c.13156T>A (p.Phe4386Ile)
c.13111T>A (p.Phe4371Ile)
c.13264T>A (p.Phe4422Ile)
c.12844T>A (p.Phe4282Ile)
c.12169T>A (p.Phe4057Ile)
c.8353T>A (p.Phe2785Ile)
c.7906T>A (p.Phe2636Ile)
c.7243T>A (p.Phe2415Ile)
c.11758T>A (p.Phe3920Ile)
5g.13708306T>ACA3201433DNAH5n.488A>T
c.13155A>T (p.Pro4385=)
c.13110A>T (p.Pro4370=)
c.13263A>T (p.Pro4421=)
c.12843A>T (p.Pro4281=)
c.12168A>T (p.Pro4056=)
c.8352A>T (p.Pro2784=)
c.7905A>T (p.Pro2635=)
c.7242A>T (p.Pro2414=)
c.11757A>T (p.Pro3919=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13708306T>CCA443251371DNAH5n.488A>G
c.13155A>G (p.Pro4385=)
c.13110A>G (p.Pro4370=)
c.13263A>G (p.Pro4421=)
c.12843A>G (p.Pro4281=)
c.12168A>G (p.Pro4056=)
c.8352A>G (p.Pro2784=)
c.7905A>G (p.Pro2635=)
c.7242A>G (p.Pro2414=)
c.11757A>G (p.Pro3919=)
5g.13708306T>GCA443251372DNAH5n.488A>C
c.13155A>C (p.Pro4385=)
c.13110A>C (p.Pro4370=)
c.13263A>C (p.Pro4421=)
c.12843A>C (p.Pro4281=)
c.12168A>C (p.Pro4056=)
c.8352A>C (p.Pro2784=)
c.7905A>C (p.Pro2635=)
c.7242A>C (p.Pro2414=)
c.11757A>C (p.Pro3919=)
 dbSNP
5g.13708306T=CA1528403803DNAH5n.488A=
c.13155A= (p.Pro4385=)
c.13110A= (p.Pro4370=)
c.13263A= (p.Pro4421=)
c.12843A= (p.Pro4281=)
c.12168A= (p.Pro4056=)
c.8352A= (p.Pro2784=)
c.7905A= (p.Pro2635=)
c.7242A= (p.Pro2414=)
c.11757A= (p.Pro3919=)
5g.13708307G>ACA359198146DNAH5n.487C>T
c.13154C>T (p.Pro4385Leu)
c.13109C>T (p.Pro4370Leu)
c.13262C>T (p.Pro4421Leu)
c.12842C>T (p.Pro4281Leu)
c.12167C>T (p.Pro4056Leu)
c.8351C>T (p.Pro2784Leu)
c.7904C>T (p.Pro2635Leu)
c.7241C>T (p.Pro2414Leu)
c.11756C>T (p.Pro3919Leu)
 dbSNP
5g.13708307G>CCA359198147DNAH5n.487C>G
c.13154C>G (p.Pro4385Arg)
c.13109C>G (p.Pro4370Arg)
c.13262C>G (p.Pro4421Arg)
c.12842C>G (p.Pro4281Arg)
c.12167C>G (p.Pro4056Arg)
c.8351C>G (p.Pro2784Arg)
c.7904C>G (p.Pro2635Arg)
c.7241C>G (p.Pro2414Arg)
c.11756C>G (p.Pro3919Arg)
5g.13708307G=CA1528403804DNAH5n.487C=
c.13154C= (p.Pro4385=)
c.13109C= (p.Pro4370=)
c.13262C= (p.Pro4421=)
c.12842C= (p.Pro4281=)
c.12167C= (p.Pro4056=)
c.8351C= (p.Pro2784=)
c.7904C= (p.Pro2635=)
c.7241C= (p.Pro2414=)
c.11756C= (p.Pro3919=)
5g.13708307G>TCA359198150DNAH5n.487C>A
c.13154C>A (p.Pro4385Gln)
c.13109C>A (p.Pro4370Gln)
c.13262C>A (p.Pro4421Gln)
c.12842C>A (p.Pro4281Gln)
c.12167C>A (p.Pro4056Gln)
c.8351C>A (p.Pro2784Gln)
c.7904C>A (p.Pro2635Gln)
c.7241C>A (p.Pro2414Gln)
c.11756C>A (p.Pro3919Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13708308G>ACA359198160DNAH5n.486C>T
c.13153C>T (p.Pro4385Ser)
c.13108C>T (p.Pro4370Ser)
c.13261C>T (p.Pro4421Ser)
c.12841C>T (p.Pro4281Ser)
c.12166C>T (p.Pro4056Ser)
c.8350C>T (p.Pro2784Ser)
c.7903C>T (p.Pro2635Ser)
c.7240C>T (p.Pro2414Ser)
c.11755C>T (p.Pro3919Ser)
5g.13708308G>CCA359198159DNAH5n.486C>G
c.13153C>G (p.Pro4385Ala)
c.13108C>G (p.Pro4370Ala)
c.13261C>G (p.Pro4421Ala)
c.12841C>G (p.Pro4281Ala)
c.12166C>G (p.Pro4056Ala)
c.8350C>G (p.Pro2784Ala)
c.7903C>G (p.Pro2635Ala)
c.7240C>G (p.Pro2414Ala)
c.11755C>G (p.Pro3919Ala)
 dbSNP
5g.13708308G=CA1528403805DNAH5n.486C=
c.13153C= (p.Pro4385=)
c.13108C= (p.Pro4370=)
c.13261C= (p.Pro4421=)
c.12841C= (p.Pro4281=)
c.12166C= (p.Pro4056=)
c.8350C= (p.Pro2784=)
c.7903C= (p.Pro2635=)
c.7240C= (p.Pro2414=)
c.11755C= (p.Pro3919=)
5g.13708308G>TCA359198158DNAH5n.486C>A
c.13153C>A (p.Pro4385Thr)
c.13108C>A (p.Pro4370Thr)
c.13261C>A (p.Pro4421Thr)
c.12841C>A (p.Pro4281Thr)
c.12166C>A (p.Pro4056Thr)
c.8350C>A (p.Pro2784Thr)
c.7903C>A (p.Pro2635Thr)
c.7240C>A (p.Pro2414Thr)
c.11755C>A (p.Pro3919Thr)
 gnomAD v4
5g.13708309C>ACA443251374DNAH5n.485G>T
c.13152G>T (p.Gly4384=)
c.13107G>T (p.Gly4369=)
c.13260G>T (p.Gly4420=)
c.12840G>T (p.Gly4280=)
c.12165G>T (p.Gly4055=)
c.8349G>T (p.Gly2783=)
c.7902G>T (p.Gly2634=)
c.7239G>T (p.Gly2413=)
c.11754G>T (p.Gly3918=)
 ClinVar gnomAD v4
5g.13708309C>GCA443251375DNAH5n.485G>C
c.13152G>C (p.Gly4384=)
c.13107G>C (p.Gly4369=)
c.13260G>C (p.Gly4420=)
c.12840G>C (p.Gly4280=)
c.12165G>C (p.Gly4055=)
c.8349G>C (p.Gly2783=)
c.7902G>C (p.Gly2634=)
c.7239G>C (p.Gly2413=)
c.11754G>C (p.Gly3918=)
5g.13708309C>TCA443251376DNAH5n.485G>A
c.13152G>A (p.Gly4384=)
c.13107G>A (p.Gly4369=)
c.13260G>A (p.Gly4420=)
c.12840G>A (p.Gly4280=)
c.12165G>A (p.Gly4055=)
c.8349G>A (p.Gly2783=)
c.7902G>A (p.Gly2634=)
c.7239G>A (p.Gly2413=)
c.11754G>A (p.Gly3918=)
 ClinVar dbSNP
5g.13708310C>ACA359198186DNAH5n.484G>T
c.13151G>T (p.Gly4384Val)
c.13106G>T (p.Gly4369Val)
c.13259G>T (p.Gly4420Val)
c.12839G>T (p.Gly4280Val)
c.12164G>T (p.Gly4055Val)
c.8348G>T (p.Gly2783Val)
c.7901G>T (p.Gly2634Val)
c.7238G>T (p.Gly2413Val)
c.11753G>T (p.Gly3918Val)
5g.13708310C>GCA359198189DNAH5n.484G>C
c.13151G>C (p.Gly4384Ala)
c.13106G>C (p.Gly4369Ala)
c.13259G>C (p.Gly4420Ala)
c.12839G>C (p.Gly4280Ala)
c.12164G>C (p.Gly4055Ala)
c.8348G>C (p.Gly2783Ala)
c.7901G>C (p.Gly2634Ala)
c.7238G>C (p.Gly2413Ala)
c.11753G>C (p.Gly3918Ala)
5g.13708310C>TCA359198191DNAH5n.484G>A
c.13151G>A (p.Gly4384Glu)
c.13106G>A (p.Gly4369Glu)
c.13259G>A (p.Gly4420Glu)
c.12839G>A (p.Gly4280Glu)
c.12164G>A (p.Gly4055Glu)
c.8348G>A (p.Gly2783Glu)
c.7901G>A (p.Gly2634Glu)
c.7238G>A (p.Gly2413Glu)
c.11753G>A (p.Gly3918Glu)
5g.13708311C>ACA359198192DNAH5n.483G>T
c.13150G>T (p.Gly4384Trp)
c.13105G>T (p.Gly4369Trp)
c.13258G>T (p.Gly4420Trp)
c.12838G>T (p.Gly4280Trp)
c.12163G>T (p.Gly4055Trp)
c.8347G>T (p.Gly2783Trp)
c.7900G>T (p.Gly2634Trp)
c.7237G>T (p.Gly2413Trp)
c.11752G>T (p.Gly3918Trp)
5g.13708311C>GCA359198196DNAH5n.483G>C
c.13150G>C (p.Gly4384Arg)
c.13105G>C (p.Gly4369Arg)
c.13258G>C (p.Gly4420Arg)
c.12838G>C (p.Gly4280Arg)
c.12163G>C (p.Gly4055Arg)
c.8347G>C (p.Gly2783Arg)
c.7900G>C (p.Gly2634Arg)
c.7237G>C (p.Gly2413Arg)
c.11752G>C (p.Gly3918Arg)
5g.13708311C>TCA359198211DNAH5n.483G>A
c.13150G>A (p.Gly4384Arg)
c.13105G>A (p.Gly4369Arg)
c.13258G>A (p.Gly4420Arg)
c.12838G>A (p.Gly4280Arg)
c.12163G>A (p.Gly4055Arg)
c.8347G>A (p.Gly2783Arg)
c.7900G>A (p.Gly2634Arg)
c.7237G>A (p.Gly2413Arg)
c.11752G>A (p.Gly3918Arg)
5g.13708312C>ACA359198223DNAH5n.482G>T
c.13149G>T (p.Met4383Ile)
c.13104G>T (p.Met4368Ile)
c.13257G>T (p.Met4419Ile)
c.12837G>T (p.Met4279Ile)
c.12162G>T (p.Met4054Ile)
c.8346G>T (p.Met2782Ile)
c.7899G>T (p.Met2633Ile)
c.7236G>T (p.Met2412Ile)
c.11751G>T (p.Met3917Ile)
5g.13708312C>GCA359198220DNAH5n.482G>C
c.13149G>C (p.Met4383Ile)
c.13104G>C (p.Met4368Ile)
c.13257G>C (p.Met4419Ile)
c.12837G>C (p.Met4279Ile)
c.12162G>C (p.Met4054Ile)
c.8346G>C (p.Met2782Ile)
c.7899G>C (p.Met2633Ile)
c.7236G>C (p.Met2412Ile)
c.11751G>C (p.Met3917Ile)
5g.13708312C>TCA359198216DNAH5n.482G>A
c.13149G>A (p.Met4383Ile)
c.13104G>A (p.Met4368Ile)
c.13257G>A (p.Met4419Ile)
c.12837G>A (p.Met4279Ile)
c.12162G>A (p.Met4054Ile)
c.8346G>A (p.Met2782Ile)
c.7899G>A (p.Met2633Ile)
c.7236G>A (p.Met2412Ile)
c.11751G>A (p.Met3917Ile)
5g.13708313A>CCA359198232DNAH5n.481T>G
c.13148T>G (p.Met4383Arg)
c.13103T>G (p.Met4368Arg)
c.13256T>G (p.Met4419Arg)
c.12836T>G (p.Met4279Arg)
c.12161T>G (p.Met4054Arg)
c.8345T>G (p.Met2782Arg)
c.7898T>G (p.Met2633Arg)
c.7235T>G (p.Met2412Arg)
c.11750T>G (p.Met3917Arg)
5g.13708313A>GCA359198237DNAH5n.481T>C
c.13148T>C (p.Met4383Thr)
c.13103T>C (p.Met4368Thr)
c.13256T>C (p.Met4419Thr)
c.12836T>C (p.Met4279Thr)
c.12161T>C (p.Met4054Thr)
c.8345T>C (p.Met2782Thr)
c.7898T>C (p.Met2633Thr)
c.7235T>C (p.Met2412Thr)
c.11750T>C (p.Met3917Thr)
5g.13708313A>TCA359198233DNAH5n.481T>A
c.13148T>A (p.Met4383Lys)
c.13103T>A (p.Met4368Lys)
c.13256T>A (p.Met4419Lys)
c.12836T>A (p.Met4279Lys)
c.12161T>A (p.Met4054Lys)
c.8345T>A (p.Met2782Lys)
c.7898T>A (p.Met2633Lys)
c.7235T>A (p.Met2412Lys)
c.11750T>A (p.Met3917Lys)
5g.13708314T>ACA359198242DNAH5n.480A>T
c.13147A>T (p.Met4383Leu)
c.13102A>T (p.Met4368Leu)
c.13255A>T (p.Met4419Leu)
c.12835A>T (p.Met4279Leu)
c.12160A>T (p.Met4054Leu)
c.8344A>T (p.Met2782Leu)
c.7897A>T (p.Met2633Leu)
c.7234A>T (p.Met2412Leu)
c.11749A>T (p.Met3917Leu)
5g.13708314T>CCA359198257DNAH5n.480A>G
c.13147A>G (p.Met4383Val)
c.13102A>G (p.Met4368Val)
c.13255A>G (p.Met4419Val)
c.12835A>G (p.Met4279Val)
c.12160A>G (p.Met4054Val)
c.8344A>G (p.Met2782Val)
c.7897A>G (p.Met2633Val)
c.7234A>G (p.Met2412Val)
c.11749A>G (p.Met3917Val)
5g.13708314T>GCA359198252DNAH5n.480A>C
c.13147A>C (p.Met4383Leu)
c.13102A>C (p.Met4368Leu)
c.13255A>C (p.Met4419Leu)
c.12835A>C (p.Met4279Leu)
c.12160A>C (p.Met4054Leu)
c.8344A>C (p.Met2782Leu)
c.7897A>C (p.Met2633Leu)
c.7234A>C (p.Met2412Leu)
c.11749A>C (p.Met3917Leu)
5g.13708315C>ACA359198260DNAH5n.479G>T
c.13146G>T (p.Lys4382Asn)
c.13101G>T (p.Lys4367Asn)
c.13254G>T (p.Lys4418Asn)
c.12834G>T (p.Lys4278Asn)
c.12159G>T (p.Lys4053Asn)
c.8343G>T (p.Lys2781Asn)
c.7896G>T (p.Lys2632Asn)
c.7233G>T (p.Lys2411Asn)
c.11748G>T (p.Lys3916Asn)
5g.13708315C=CA1528403806DNAH5n.479G=
c.13146G= (p.Lys4382=)
c.13101G= (p.Lys4367=)
c.13254G= (p.Lys4418=)
c.12834G= (p.Lys4278=)
c.12159G= (p.Lys4053=)
c.8343G= (p.Lys2781=)
c.7896G= (p.Lys2632=)
c.7233G= (p.Lys2411=)
c.11748G= (p.Lys3916=)
5g.13708315C>GCA113911108DNAH5n.479G>C
c.13146G>C (p.Lys4382Asn)
c.13101G>C (p.Lys4367Asn)
c.13254G>C (p.Lys4418Asn)
c.12834G>C (p.Lys4278Asn)
c.12159G>C (p.Lys4053Asn)
c.8343G>C (p.Lys2781Asn)
c.7896G>C (p.Lys2632Asn)
c.7233G>C (p.Lys2411Asn)
c.11748G>C (p.Lys3916Asn)
 dbSNP gnomAD v4
5g.13708315C>TCA443251378DNAH5n.479G>A
c.13146G>A (p.Lys4382=)
c.13101G>A (p.Lys4367=)
c.13254G>A (p.Lys4418=)
c.12834G>A (p.Lys4278=)
c.12159G>A (p.Lys4053=)
c.8343G>A (p.Lys2781=)
c.7896G>A (p.Lys2632=)
c.7233G>A (p.Lys2411=)
c.11748G>A (p.Lys3916=)
5g.13708316T>ACA359198265DNAH5n.478A>T
c.13145A>T (p.Lys4382Met)
c.13100A>T (p.Lys4367Met)
c.13253A>T (p.Lys4418Met)
c.12833A>T (p.Lys4278Met)
c.12158A>T (p.Lys4053Met)
c.8342A>T (p.Lys2781Met)
c.7895A>T (p.Lys2632Met)
c.7232A>T (p.Lys2411Met)
c.11747A>T (p.Lys3916Met)
5g.13708316T>CCA359198268DNAH5n.478A>G
c.13145A>G (p.Lys4382Arg)
c.13100A>G (p.Lys4367Arg)
c.13253A>G (p.Lys4418Arg)
c.12833A>G (p.Lys4278Arg)
c.12158A>G (p.Lys4053Arg)
c.8342A>G (p.Lys2781Arg)
c.7895A>G (p.Lys2632Arg)
c.7232A>G (p.Lys2411Arg)
c.11747A>G (p.Lys3916Arg)
5g.13708316T>GCA359198272DNAH5n.478A>C
c.13145A>C (p.Lys4382Thr)
c.13100A>C (p.Lys4367Thr)
c.13253A>C (p.Lys4418Thr)
c.12833A>C (p.Lys4278Thr)
c.12158A>C (p.Lys4053Thr)
c.8342A>C (p.Lys2781Thr)
c.7895A>C (p.Lys2632Thr)
c.7232A>C (p.Lys2411Thr)
c.11747A>C (p.Lys3916Thr)
5g.13708317T>ACA359198276DNAH5n.477A>T
c.13144A>T (p.Lys4382Ter)
c.13099A>T (p.Lys4367Ter)
c.13252A>T (p.Lys4418Ter)
c.12832A>T (p.Lys4278Ter)
c.12157A>T (p.Lys4053Ter)
c.8341A>T (p.Lys2781Ter)
c.7894A>T (p.Lys2632Ter)
c.7231A>T (p.Lys2411Ter)
c.11746A>T (p.Lys3916Ter)
5g.13708317T>CCA359198293DNAH5n.477A>G
c.13144A>G (p.Lys4382Glu)
c.13099A>G (p.Lys4367Glu)
c.13252A>G (p.Lys4418Glu)
c.12832A>G (p.Lys4278Glu)
c.12157A>G (p.Lys4053Glu)
c.8341A>G (p.Lys2781Glu)
c.7894A>G (p.Lys2632Glu)
c.7231A>G (p.Lys2411Glu)
c.11746A>G (p.Lys3916Glu)
5g.13708317T>GCA359198294DNAH5n.477A>C
c.13144A>C (p.Lys4382Gln)
c.13099A>C (p.Lys4367Gln)
c.13252A>C (p.Lys4418Gln)
c.12832A>C (p.Lys4278Gln)
c.12157A>C (p.Lys4053Gln)
c.8341A>C (p.Lys2781Gln)
c.7894A>C (p.Lys2632Gln)
c.7231A>C (p.Lys2411Gln)
c.11746A>C (p.Lys3916Gln)
5g.13708318C>ACA359198297DNAH5n.476G>T
c.13143G>T (p.Gln4381His)
c.13098G>T (p.Gln4366His)
c.13251G>T (p.Gln4417His)
c.12831G>T (p.Gln4277His)
c.12156G>T (p.Gln4052His)
c.8340G>T (p.Gln2780His)
c.7893G>T (p.Gln2631His)
c.7230G>T (p.Gln2410His)
c.11745G>T (p.Gln3915His)
 gnomAD v4
5g.13708318C>GCA359198298DNAH5n.476G>C
c.13143G>C (p.Gln4381His)
c.13098G>C (p.Gln4366His)
c.13251G>C (p.Gln4417His)
c.12831G>C (p.Gln4277His)
c.12156G>C (p.Gln4052His)
c.8340G>C (p.Gln2780His)
c.7893G>C (p.Gln2631His)
c.7230G>C (p.Gln2410His)
c.11745G>C (p.Gln3915His)
5g.13708318C>TCA443251380DNAH5n.476G>A
c.13143G>A (p.Gln4381=)
c.13098G>A (p.Gln4366=)
c.13251G>A (p.Gln4417=)
c.12831G>A (p.Gln4277=)
c.12156G>A (p.Gln4052=)
c.8340G>A (p.Gln2780=)
c.7893G>A (p.Gln2631=)
c.7230G>A (p.Gln2410=)
c.11745G>A (p.Gln3915=)
 gnomAD v4
5g.13708319T>ACA359198299DNAH5n.475A>T
c.13142A>T (p.Gln4381Leu)
c.13097A>T (p.Gln4366Leu)
c.13250A>T (p.Gln4417Leu)
c.12830A>T (p.Gln4277Leu)
c.12155A>T (p.Gln4052Leu)
c.8339A>T (p.Gln2780Leu)
c.7892A>T (p.Gln2631Leu)
c.7229A>T (p.Gln2410Leu)
c.11744A>T (p.Gln3915Leu)
5g.13708319T>CCA359198300DNAH5n.475A>G
c.13142A>G (p.Gln4381Arg)
c.13097A>G (p.Gln4366Arg)
c.13250A>G (p.Gln4417Arg)
c.12830A>G (p.Gln4277Arg)
c.12155A>G (p.Gln4052Arg)
c.8339A>G (p.Gln2780Arg)
c.7892A>G (p.Gln2631Arg)
c.7229A>G (p.Gln2410Arg)
c.11744A>G (p.Gln3915Arg)
5g.13708319T>GCA359198304DNAH5n.475A>C
c.13142A>C (p.Gln4381Pro)
c.13097A>C (p.Gln4366Pro)
c.13250A>C (p.Gln4417Pro)
c.12830A>C (p.Gln4277Pro)
c.12155A>C (p.Gln4052Pro)
c.8339A>C (p.Gln2780Pro)
c.7892A>C (p.Gln2631Pro)
c.7229A>C (p.Gln2410Pro)
c.11744A>C (p.Gln3915Pro)
5g.13708320G>ACA359198306DNAH5n.474C>T
c.13141C>T (p.Gln4381Ter)
c.13096C>T (p.Gln4366Ter)
c.13249C>T (p.Gln4417Ter)
c.12829C>T (p.Gln4277Ter)
c.12154C>T (p.Gln4052Ter)
c.8338C>T (p.Gln2780Ter)
c.7891C>T (p.Gln2631Ter)
c.7228C>T (p.Gln2410Ter)
c.11743C>T (p.Gln3915Ter)
 gnomAD v4 COSMIC
5g.13708320G>CCA3201434DNAH5n.474C>G
c.13141C>G (p.Gln4381Glu)
c.13096C>G (p.Gln4366Glu)
c.13249C>G (p.Gln4417Glu)
c.12829C>G (p.Gln4277Glu)
c.12154C>G (p.Gln4052Glu)
c.8338C>G (p.Gln2780Glu)
c.7891C>G (p.Gln2631Glu)
c.7228C>G (p.Gln2410Glu)
c.11743C>G (p.Gln3915Glu)
 dbSNP ExAC gnomAD v2
5g.13708320G=CA1528403807DNAH5n.474C=
c.13141C= (p.Gln4381=)
c.13096C= (p.Gln4366=)
c.13249C= (p.Gln4417=)
c.12829C= (p.Gln4277=)
c.12154C= (p.Gln4052=)
c.8338C= (p.Gln2780=)
c.7891C= (p.Gln2631=)
c.7228C= (p.Gln2410=)
c.11743C= (p.Gln3915=)
5g.13708320G>TCA359198309DNAH5n.474C>A
c.13141C>A (p.Gln4381Lys)
c.13096C>A (p.Gln4366Lys)
c.13249C>A (p.Gln4417Lys)
c.12829C>A (p.Gln4277Lys)
c.12154C>A (p.Gln4052Lys)
c.8338C>A (p.Gln2780Lys)
c.7891C>A (p.Gln2631Lys)
c.7228C>A (p.Gln2410Lys)
c.11743C>A (p.Gln3915Lys)
5g.13708321C>ACA113911116DNAH5n.473G>T
c.13140G>T (p.Leu4380=)
c.13095G>T (p.Leu4365=)
c.13248G>T (p.Leu4416=)
c.12828G>T (p.Leu4276=)
c.12153G>T (p.Leu4051=)
c.8337G>T (p.Leu2779=)
c.7890G>T (p.Leu2630=)
c.7227G>T (p.Leu2409=)
c.11742G>T (p.Leu3914=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13708321C=CA1528403808DNAH5n.473G=
c.13140G= (p.Leu4380=)
c.13095G= (p.Leu4365=)
c.13248G= (p.Leu4416=)
c.12828G= (p.Leu4276=)
c.12153G= (p.Leu4051=)
c.8337G= (p.Leu2779=)
c.7890G= (p.Leu2630=)
c.7227G= (p.Leu2409=)
c.11742G= (p.Leu3914=)
5g.13708321C>GCA443251382DNAH5n.473G>C
c.13140G>C (p.Leu4380=)
c.13095G>C (p.Leu4365=)
c.13248G>C (p.Leu4416=)
c.12828G>C (p.Leu4276=)
c.12153G>C (p.Leu4051=)
c.8337G>C (p.Leu2779=)
c.7890G>C (p.Leu2630=)
c.7227G>C (p.Leu2409=)
c.11742G>C (p.Leu3914=)
5g.13708321C>TCA443251383DNAH5n.473G>A
c.13140G>A (p.Leu4380=)
c.13095G>A (p.Leu4365=)
c.13248G>A (p.Leu4416=)
c.12828G>A (p.Leu4276=)
c.12153G>A (p.Leu4051=)
c.8337G>A (p.Leu2779=)
c.7890G>A (p.Leu2630=)
c.7227G>A (p.Leu2409=)
c.11742G>A (p.Leu3914=)
5g.13708322A=CA1528403809DNAH5n.472T=
c.13139T= (p.Leu4380=)
c.13094T= (p.Leu4365=)
c.13247T= (p.Leu4416=)
c.12827T= (p.Leu4276=)
c.12152T= (p.Leu4051=)
c.8336T= (p.Leu2779=)
c.7889T= (p.Leu2630=)
c.7226T= (p.Leu2409=)
c.11741T= (p.Leu3914=)
5g.13708322A>CCA359198318DNAH5n.472T>G
c.13139T>G (p.Leu4380Arg)
c.13094T>G (p.Leu4365Arg)
c.13247T>G (p.Leu4416Arg)
c.12827T>G (p.Leu4276Arg)
c.12152T>G (p.Leu4051Arg)
c.8336T>G (p.Leu2779Arg)
c.7889T>G (p.Leu2630Arg)
c.7226T>G (p.Leu2409Arg)
c.11741T>G (p.Leu3914Arg)
5g.13708322A>GCA359198319DNAH5n.472T>C
c.13139T>C (p.Leu4380Pro)
c.13094T>C (p.Leu4365Pro)
c.13247T>C (p.Leu4416Pro)
c.12827T>C (p.Leu4276Pro)
c.12152T>C (p.Leu4051Pro)
c.8336T>C (p.Leu2779Pro)
c.7889T>C (p.Leu2630Pro)
c.7226T>C (p.Leu2409Pro)
c.11741T>C (p.Leu3914Pro)
 dbSNP gnomAD v2 gnomAD v4
5g.13708322A>TCA359198320DNAH5n.472T>A
c.13139T>A (p.Leu4380Gln)
c.13094T>A (p.Leu4365Gln)
c.13247T>A (p.Leu4416Gln)
c.12827T>A (p.Leu4276Gln)
c.12152T>A (p.Leu4051Gln)
c.8336T>A (p.Leu2779Gln)
c.7889T>A (p.Leu2630Gln)
c.7226T>A (p.Leu2409Gln)
c.11741T>A (p.Leu3914Gln)
 gnomAD v4
5g.13708323G>ACA443251386DNAH5n.471C>T
c.13138C>T (p.Leu4380=)
c.13093C>T (p.Leu4365=)
c.13246C>T (p.Leu4416=)
c.12826C>T (p.Leu4276=)
c.12151C>T (p.Leu4051=)
c.8335C>T (p.Leu2779=)
c.7888C>T (p.Leu2630=)
c.7225C>T (p.Leu2409=)
c.11740C>T (p.Leu3914=)
5g.13708323G>CCA359198322DNAH5n.471C>G
c.13138C>G (p.Leu4380Val)
c.13093C>G (p.Leu4365Val)
c.13246C>G (p.Leu4416Val)
c.12826C>G (p.Leu4276Val)
c.12151C>G (p.Leu4051Val)
c.8335C>G (p.Leu2779Val)
c.7888C>G (p.Leu2630Val)
c.7225C>G (p.Leu2409Val)
c.11740C>G (p.Leu3914Val)
 dbSNP gnomAD v4
5g.13708323G=CA1528403810DNAH5n.471C=
c.13138C= (p.Leu4380=)
c.13093C= (p.Leu4365=)
c.13246C= (p.Leu4416=)
c.12826C= (p.Leu4276=)
c.12151C= (p.Leu4051=)
c.8335C= (p.Leu2779=)
c.7888C= (p.Leu2630=)
c.7225C= (p.Leu2409=)
c.11740C= (p.Leu3914=)
5g.13708323G>TCA359198324DNAH5n.471C>A
c.13138C>A (p.Leu4380Met)
c.13093C>A (p.Leu4365Met)
c.13246C>A (p.Leu4416Met)
c.12826C>A (p.Leu4276Met)
c.12151C>A (p.Leu4051Met)
c.8335C>A (p.Leu2779Met)
c.7888C>A (p.Leu2630Met)
c.7225C>A (p.Leu2409Met)
c.11740C>A (p.Leu3914Met)
5g.13708324C>ACA359198326DNAH5n.470G>T
c.13137G>T (p.Arg4379Ser)
c.13092G>T (p.Arg4364Ser)
c.13245G>T (p.Arg4415Ser)
c.12825G>T (p.Arg4275Ser)
c.12150G>T (p.Arg4050Ser)
c.8334G>T (p.Arg2778Ser)
c.7887G>T (p.Arg2629Ser)
c.7224G>T (p.Arg2408Ser)
c.11739G>T (p.Arg3913Ser)
5g.13708324C>GCA359198344DNAH5n.470G>C
c.13137G>C (p.Arg4379Ser)
c.13092G>C (p.Arg4364Ser)
c.13245G>C (p.Arg4415Ser)
c.12825G>C (p.Arg4275Ser)
c.12150G>C (p.Arg4050Ser)
c.8334G>C (p.Arg2778Ser)
c.7887G>C (p.Arg2629Ser)
c.7224G>C (p.Arg2408Ser)
c.11739G>C (p.Arg3913Ser)
 gnomAD v4
5g.13708324C>TCA443251387DNAH5n.470G>A
c.13137G>A (p.Arg4379=)
c.13092G>A (p.Arg4364=)
c.13245G>A (p.Arg4415=)
c.12825G>A (p.Arg4275=)
c.12150G>A (p.Arg4050=)
c.8334G>A (p.Arg2778=)
c.7887G>A (p.Arg2629=)
c.7224G>A (p.Arg2408=)
c.11739G>A (p.Arg3913=)
5g.13708325C>ACA359198349DNAH5n.469G>T
c.13136G>T (p.Arg4379Met)
c.13091G>T (p.Arg4364Met)
c.13244G>T (p.Arg4415Met)
c.12824G>T (p.Arg4275Met)
c.12149G>T (p.Arg4050Met)
c.8333G>T (p.Arg2778Met)
c.7886G>T (p.Arg2629Met)
c.7223G>T (p.Arg2408Met)
c.11738G>T (p.Arg3913Met)
5g.13708325C=CA1528403811DNAH5n.469G=
c.13136G= (p.Arg4379=)
c.13091G= (p.Arg4364=)
c.13244G= (p.Arg4415=)
c.12824G= (p.Arg4275=)
c.12149G= (p.Arg4050=)
c.8333G= (p.Arg2778=)
c.7886G= (p.Arg2629=)
c.7223G= (p.Arg2408=)
c.11738G= (p.Arg3913=)
5g.13708325C>GCA359198351DNAH5n.469G>C
c.13136G>C (p.Arg4379Thr)
c.13091G>C (p.Arg4364Thr)
c.13244G>C (p.Arg4415Thr)
c.12824G>C (p.Arg4275Thr)
c.12149G>C (p.Arg4050Thr)
c.8333G>C (p.Arg2778Thr)
c.7886G>C (p.Arg2629Thr)
c.7223G>C (p.Arg2408Thr)
c.11738G>C (p.Arg3913Thr)
 dbSNP gnomAD v2 gnomAD v4
5g.13708325C>TCA359198353DNAH5n.469G>A
c.13136G>A (p.Arg4379Lys)
c.13091G>A (p.Arg4364Lys)
c.13244G>A (p.Arg4415Lys)
c.12824G>A (p.Arg4275Lys)
c.12149G>A (p.Arg4050Lys)
c.8333G>A (p.Arg2778Lys)
c.7886G>A (p.Arg2629Lys)
c.7223G>A (p.Arg2408Lys)
c.11738G>A (p.Arg3913Lys)
 dbSNP gnomAD v4
5g.13708326T>ACA359198356DNAH5n.468A>T
c.13135A>T (p.Arg4379Trp)
c.13090A>T (p.Arg4364Trp)
c.13243A>T (p.Arg4415Trp)
c.12823A>T (p.Arg4275Trp)
c.12148A>T (p.Arg4050Trp)
c.8332A>T (p.Arg2778Trp)
c.7885A>T (p.Arg2629Trp)
c.7222A>T (p.Arg2408Trp)
c.11737A>T (p.Arg3913Trp)
5g.13708326T>CCA359198359DNAH5n.468A>G
c.13135A>G (p.Arg4379Gly)
c.13090A>G (p.Arg4364Gly)
c.13243A>G (p.Arg4415Gly)
c.12823A>G (p.Arg4275Gly)
c.12148A>G (p.Arg4050Gly)
c.8332A>G (p.Arg2778Gly)
c.7885A>G (p.Arg2629Gly)
c.7222A>G (p.Arg2408Gly)
c.11737A>G (p.Arg3913Gly)
5g.13708326T>GCA443251391DNAH5n.468A>C
c.13135A>C (p.Arg4379=)
c.13090A>C (p.Arg4364=)
c.13243A>C (p.Arg4415=)
c.12823A>C (p.Arg4275=)
c.12148A>C (p.Arg4050=)
c.8332A>C (p.Arg2778=)
c.7885A>C (p.Arg2629=)
c.7222A>C (p.Arg2408=)
c.11737A>C (p.Arg3913=)
5g.13708327C>ACA359198365DNAH5n.467G>T
c.13134G>T (p.Glu4378Asp)
c.13089G>T (p.Glu4363Asp)
c.13242G>T (p.Glu4414Asp)
c.12822G>T (p.Glu4274Asp)
c.12147G>T (p.Glu4049Asp)
c.8331G>T (p.Glu2777Asp)
c.7884G>T (p.Glu2628Asp)
c.7221G>T (p.Glu2407Asp)
c.11736G>T (p.Glu3912Asp)
5g.13708327C>GCA359198367DNAH5n.467G>C
c.13134G>C (p.Glu4378Asp)
c.13089G>C (p.Glu4363Asp)
c.13242G>C (p.Glu4414Asp)
c.12822G>C (p.Glu4274Asp)
c.12147G>C (p.Glu4049Asp)
c.8331G>C (p.Glu2777Asp)
c.7884G>C (p.Glu2628Asp)
c.7221G>C (p.Glu2407Asp)
c.11736G>C (p.Glu3912Asp)
5g.13708327C>TCA443251393DNAH5n.467G>A
c.13134G>A (p.Glu4378=)
c.13089G>A (p.Glu4363=)
c.13242G>A (p.Glu4414=)
c.12822G>A (p.Glu4274=)
c.12147G>A (p.Glu4049=)
c.8331G>A (p.Glu2777=)
c.7884G>A (p.Glu2628=)
c.7221G>A (p.Glu2407=)
c.11736G>A (p.Glu3912=)
 ClinVar dbSNP
5g.13708328T>ACA359198372DNAH5n.466A>T
c.13133A>T (p.Glu4378Val)
c.13088A>T (p.Glu4363Val)
c.13241A>T (p.Glu4414Val)
c.12821A>T (p.Glu4274Val)
c.12146A>T (p.Glu4049Val)
c.8330A>T (p.Glu2777Val)
c.7883A>T (p.Glu2628Val)
c.7220A>T (p.Glu2407Val)
c.11735A>T (p.Glu3912Val)
 COSMIC
5g.13708328T>CCA359198375DNAH5n.466A>G
c.13133A>G (p.Glu4378Gly)
c.13088A>G (p.Glu4363Gly)
c.13241A>G (p.Glu4414Gly)
c.12821A>G (p.Glu4274Gly)
c.12146A>G (p.Glu4049Gly)
c.8330A>G (p.Glu2777Gly)
c.7883A>G (p.Glu2628Gly)
c.7220A>G (p.Glu2407Gly)
c.11735A>G (p.Glu3912Gly)
5g.13708328T>GCA3201435DNAH5n.466A>C
c.13133A>C (p.Glu4378Ala)
c.13088A>C (p.Glu4363Ala)
c.13241A>C (p.Glu4414Ala)
c.12821A>C (p.Glu4274Ala)
c.12146A>C (p.Glu4049Ala)
c.8330A>C (p.Glu2777Ala)
c.7883A>C (p.Glu2628Ala)
c.7220A>C (p.Glu2407Ala)
c.11735A>C (p.Glu3912Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13708328T=CA1528403812DNAH5n.466A=
c.13133A= (p.Glu4378=)
c.13088A= (p.Glu4363=)
c.13241A= (p.Glu4414=)
c.12821A= (p.Glu4274=)
c.12146A= (p.Glu4049=)
c.8330A= (p.Glu2777=)
c.7883A= (p.Glu2628=)
c.7220A= (p.Glu2407=)
c.11735A= (p.Glu3912=)
5g.13708329C>ACA359198379DNAH5n.465G>T
c.13132G>T (p.Glu4378Ter)
c.13087G>T (p.Glu4363Ter)
c.13240G>T (p.Glu4414Ter)
c.12820G>T (p.Glu4274Ter)
c.12145G>T (p.Glu4049Ter)
c.8329G>T (p.Glu2777Ter)
c.7882G>T (p.Glu2628Ter)
c.7219G>T (p.Glu2407Ter)
c.11734G>T (p.Glu3912Ter)
5g.13708329C>GCA359198382DNAH5n.465G>C
c.13132G>C (p.Glu4378Gln)
c.13087G>C (p.Glu4363Gln)
c.13240G>C (p.Glu4414Gln)
c.12820G>C (p.Glu4274Gln)
c.12145G>C (p.Glu4049Gln)
c.8329G>C (p.Glu2777Gln)
c.7882G>C (p.Glu2628Gln)
c.7219G>C (p.Glu2407Gln)
c.11734G>C (p.Glu3912Gln)
5g.13708329C>TCA359198385DNAH5n.465G>A
c.13132G>A (p.Glu4378Lys)
c.13087G>A (p.Glu4363Lys)
c.13240G>A (p.Glu4414Lys)
c.12820G>A (p.Glu4274Lys)
c.12145G>A (p.Glu4049Lys)
c.8329G>A (p.Glu2777Lys)
c.7882G>A (p.Glu2628Lys)
c.7219G>A (p.Glu2407Lys)
c.11734G>A (p.Glu3912Lys)
5g.13708330T>ACA359198398DNAH5n.464A>T
c.13131A>T (p.Lys4377Asn)
c.13086A>T (p.Lys4362Asn)
c.13239A>T (p.Lys4413Asn)
c.12819A>T (p.Lys4273Asn)
c.12144A>T (p.Lys4048Asn)
c.8328A>T (p.Lys2776Asn)
c.7881A>T (p.Lys2627Asn)
c.7218A>T (p.Lys2406Asn)
c.11733A>T (p.Lys3911Asn)
5g.13708330T>CCA443251394DNAH5n.464A>G
c.13131A>G (p.Lys4377=)
c.13086A>G (p.Lys4362=)
c.13239A>G (p.Lys4413=)
c.12819A>G (p.Lys4273=)
c.12144A>G (p.Lys4048=)
c.8328A>G (p.Lys2776=)
c.7881A>G (p.Lys2627=)
c.7218A>G (p.Lys2406=)
c.11733A>G (p.Lys3911=)
5g.13708330T>GCA359198399DNAH5n.464A>C
c.13131A>C (p.Lys4377Asn)
c.13086A>C (p.Lys4362Asn)
c.13239A>C (p.Lys4413Asn)
c.12819A>C (p.Lys4273Asn)
c.12144A>C (p.Lys4048Asn)
c.8328A>C (p.Lys2776Asn)
c.7881A>C (p.Lys2627Asn)
c.7218A>C (p.Lys2406Asn)
c.11733A>C (p.Lys3911Asn)
5g.13708331T>ACA359198405DNAH5n.463A>T
c.13130A>T (p.Lys4377Ile)
c.13085A>T (p.Lys4362Ile)
c.13238A>T (p.Lys4413Ile)
c.12818A>T (p.Lys4273Ile)
c.12143A>T (p.Lys4048Ile)
c.8327A>T (p.Lys2776Ile)
c.7880A>T (p.Lys2627Ile)
c.7217A>T (p.Lys2406Ile)
c.11732A>T (p.Lys3911Ile)
5g.13708331T>CCA359198407DNAH5n.463A>G
c.13130A>G (p.Lys4377Arg)
c.13085A>G (p.Lys4362Arg)
c.13238A>G (p.Lys4413Arg)
c.12818A>G (p.Lys4273Arg)
c.12143A>G (p.Lys4048Arg)
c.8327A>G (p.Lys2776Arg)
c.7880A>G (p.Lys2627Arg)
c.7217A>G (p.Lys2406Arg)
c.11732A>G (p.Lys3911Arg)
5g.13708331T>GCA359198408DNAH5n.463A>C
c.13130A>C (p.Lys4377Thr)
c.13085A>C (p.Lys4362Thr)
c.13238A>C (p.Lys4413Thr)
c.12818A>C (p.Lys4273Thr)
c.12143A>C (p.Lys4048Thr)
c.8327A>C (p.Lys2776Thr)
c.7880A>C (p.Lys2627Thr)
c.7217A>C (p.Lys2406Thr)
c.11732A>C (p.Lys3911Thr)
5g.13708332T>ACA359198411DNAH5n.462A>T
c.13129A>T (p.Lys4377Ter)
c.13084A>T (p.Lys4362Ter)
c.13237A>T (p.Lys4413Ter)
c.12817A>T (p.Lys4273Ter)
c.12142A>T (p.Lys4048Ter)
c.8326A>T (p.Lys2776Ter)
c.7879A>T (p.Lys2627Ter)
c.7216A>T (p.Lys2406Ter)
c.11731A>T (p.Lys3911Ter)
5g.13708332T>CCA359198409DNAH5n.462A>G
c.13129A>G (p.Lys4377Glu)
c.13084A>G (p.Lys4362Glu)
c.13237A>G (p.Lys4413Glu)
c.12817A>G (p.Lys4273Glu)
c.12142A>G (p.Lys4048Glu)
c.8326A>G (p.Lys2776Glu)
c.7879A>G (p.Lys2627Glu)
c.7216A>G (p.Lys2406Glu)
c.11731A>G (p.Lys3911Glu)
5g.13708332T>GCA359198410DNAH5n.462A>C
c.13129A>C (p.Lys4377Gln)
c.13084A>C (p.Lys4362Gln)
c.13237A>C (p.Lys4413Gln)
c.12817A>C (p.Lys4273Gln)
c.12142A>C (p.Lys4048Gln)
c.8326A>C (p.Lys2776Gln)
c.7879A>C (p.Lys2627Gln)
c.7216A>C (p.Lys2406Gln)
c.11731A>C (p.Lys3911Gln)
5g.13708333T>ACA443251396DNAH5n.461A>T
c.13128A>T (p.Val4376=)
c.13083A>T (p.Val4361=)
c.13236A>T (p.Val4412=)
c.12816A>T (p.Val4272=)
c.12141A>T (p.Val4047=)
c.8325A>T (p.Val2775=)
c.7878A>T (p.Val2626=)
c.7215A>T (p.Val2405=)
c.11730A>T (p.Val3910=)
5g.13708333T>CCA443251397DNAH5n.461A>G
c.13128A>G (p.Val4376=)
c.13083A>G (p.Val4361=)
c.13236A>G (p.Val4412=)
c.12816A>G (p.Val4272=)
c.12141A>G (p.Val4047=)
c.8325A>G (p.Val2775=)
c.7878A>G (p.Val2626=)
c.7215A>G (p.Val2405=)
c.11730A>G (p.Val3910=)
5g.13708333T>GCA443251398DNAH5n.461A>C
c.13128A>C (p.Val4376=)
c.13083A>C (p.Val4361=)
c.13236A>C (p.Val4412=)
c.12816A>C (p.Val4272=)
c.12141A>C (p.Val4047=)
c.8325A>C (p.Val2775=)
c.7878A>C (p.Val2626=)
c.7215A>C (p.Val2405=)
c.11730A>C (p.Val3910=)
5g.13708334A=CA1528403813DNAH5n.460T=
c.13127T= (p.Val4376=)
c.13082T= (p.Val4361=)
c.13235T= (p.Val4412=)
c.12815T= (p.Val4272=)
c.12140T= (p.Val4047=)
c.8324T= (p.Val2775=)
c.7877T= (p.Val2626=)
c.7214T= (p.Val2405=)
c.11729T= (p.Val3910=)
5g.13708334A>CCA3201436DNAH5n.460T>G
c.13127T>G (p.Val4376Gly)
c.13082T>G (p.Val4361Gly)
c.13235T>G (p.Val4412Gly)
c.12815T>G (p.Val4272Gly)
c.12140T>G (p.Val4047Gly)
c.8324T>G (p.Val2775Gly)
c.7877T>G (p.Val2626Gly)
c.7214T>G (p.Val2405Gly)
c.11729T>G (p.Val3910Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13708334A>GCA359198416DNAH5n.460T>C
c.13127T>C (p.Val4376Ala)
c.13082T>C (p.Val4361Ala)
c.13235T>C (p.Val4412Ala)
c.12815T>C (p.Val4272Ala)
c.12140T>C (p.Val4047Ala)
c.8324T>C (p.Val2775Ala)
c.7877T>C (p.Val2626Ala)
c.7214T>C (p.Val2405Ala)
c.11729T>C (p.Val3910Ala)
 COSMIC
5g.13708334A>TCA359198417DNAH5n.460T>A
c.13127T>A (p.Val4376Glu)
c.13082T>A (p.Val4361Glu)
c.13235T>A (p.Val4412Glu)
c.12815T>A (p.Val4272Glu)
c.12140T>A (p.Val4047Glu)
c.8324T>A (p.Val2775Glu)
c.7877T>A (p.Val2626Glu)
c.7214T>A (p.Val2405Glu)
c.11729T>A (p.Val3910Glu)
5g.13708335C>ACA359198420DNAH5n.459G>T
c.13126G>T (p.Val4376Leu)
c.13081G>T (p.Val4361Leu)
c.13234G>T (p.Val4412Leu)
c.12814G>T (p.Val4272Leu)
c.12139G>T (p.Val4047Leu)
c.8323G>T (p.Val2775Leu)
c.7876G>T (p.Val2626Leu)
c.7213G>T (p.Val2405Leu)
c.11728G>T (p.Val3910Leu)
5g.13708335C=CA1528403814DNAH5n.459G=
c.13126G= (p.Val4376=)
c.13081G= (p.Val4361=)
c.13234G= (p.Val4412=)
c.12814G= (p.Val4272=)
c.12139G= (p.Val4047=)
c.8323G= (p.Val2775=)
c.7876G= (p.Val2626=)
c.7213G= (p.Val2405=)
c.11728G= (p.Val3910=)
5g.13708335C>GCA113911118DNAH5n.459G>C
c.13126G>C (p.Val4376Leu)
c.13081G>C (p.Val4361Leu)
c.13234G>C (p.Val4412Leu)
c.12814G>C (p.Val4272Leu)
c.12139G>C (p.Val4047Leu)
c.8323G>C (p.Val2775Leu)
c.7876G>C (p.Val2626Leu)
c.7213G>C (p.Val2405Leu)
c.11728G>C (p.Val3910Leu)
 dbSNP
5g.13708335C>TCA359198428DNAH5n.459G>A
c.13126G>A (p.Val4376Ile)
c.13081G>A (p.Val4361Ile)
c.13234G>A (p.Val4412Ile)
c.12814G>A (p.Val4272Ile)
c.12139G>A (p.Val4047Ile)
c.8323G>A (p.Val2775Ile)
c.7876G>A (p.Val2626Ile)
c.7213G>A (p.Val2405Ile)
c.11728G>A (p.Val3910Ile)
5g.13708336C>ACA359198433DNAH5n.459-1G>T
c.13126-1G>T (n.13126-1G>T)
c.13081-1G>T (n.13081-1G>T)
c.13234-1G>T (n.13234-1G>T)
c.12814-1G>T (n.12814-1G>T)
c.12139-1G>T (n.12139-1G>T)
c.8323-1G>T (n.8323-1G>T)
c.7876-1G>T (n.7876-1G>T)
c.7213-1G>T (n.7213-1G>T)
c.11728-1G>T (n.11728-1G>T)
5g.13708336C>GCA359198440DNAH5n.459-1G>C
c.13126-1G>C (n.13126-1G>C)
c.13081-1G>C (n.13081-1G>C)
c.13234-1G>C (n.13234-1G>C)
c.12814-1G>C (n.12814-1G>C)
c.12139-1G>C (n.12139-1G>C)
c.8323-1G>C (n.8323-1G>C)
c.7876-1G>C (n.7876-1G>C)
c.7213-1G>C (n.7213-1G>C)
c.11728-1G>C (n.11728-1G>C)
 gnomAD v4
5g.13708336C>TCA359198443DNAH5n.459-1G>A
c.13126-1G>A (n.13126-1G>A)
c.13081-1G>A (n.13081-1G>A)
c.13234-1G>A (n.13234-1G>A)
c.12814-1G>A (n.12814-1G>A)
c.12139-1G>A (n.12139-1G>A)
c.8323-1G>A (n.8323-1G>A)
c.7876-1G>A (n.7876-1G>A)
c.7213-1G>A (n.7213-1G>A)
c.11728-1G>A (n.11728-1G>A)
5g.13708337T>ACA359198446DNAH5n.459-2A>T
c.13126-2A>T (n.13126-2A>T)
c.13081-2A>T (n.13081-2A>T)
c.13234-2A>T (n.13234-2A>T)
c.12814-2A>T (n.12814-2A>T)
c.12139-2A>T (n.12139-2A>T)
c.8323-2A>T (n.8323-2A>T)
c.7876-2A>T (n.7876-2A>T)
c.7213-2A>T (n.7213-2A>T)
c.11728-2A>T (n.11728-2A>T)
5g.13708337T>CCA359198447DNAH5n.459-2A>G
c.13126-2A>G (n.13126-2A>G)
c.13081-2A>G (n.13081-2A>G)
c.13234-2A>G (n.13234-2A>G)
c.12814-2A>G (n.12814-2A>G)
c.12139-2A>G (n.12139-2A>G)
c.8323-2A>G (n.8323-2A>G)
c.7876-2A>G (n.7876-2A>G)
c.7213-2A>G (n.7213-2A>G)
c.11728-2A>G (n.11728-2A>G)
5g.13708337T>GCA337114DNAH5n.459-2A>C
c.13126-2A>C (n.13126-2A>C)
c.13081-2A>C (n.13081-2A>C)
c.13234-2A>C (n.13234-2A>C)
c.12814-2A>C (n.12814-2A>C)
c.12139-2A>C (n.12139-2A>C)
c.8323-2A>C (n.8323-2A>C)
c.7876-2A>C (n.7876-2A>C)
c.7213-2A>C (n.7213-2A>C)
c.11728-2A>C (n.11728-2A>C)
 ClinVar dbSNP
5g.13708337T=CA1528403815DNAH5n.459-2A=
c.13126-2A= (n.13126-2A=)
c.13081-2A= (n.13081-2A=)
c.13234-2A= (n.13234-2A=)
c.12814-2A= (n.12814-2A=)
c.12139-2A= (n.12139-2A=)
c.8323-2A= (n.8323-2A=)
c.7876-2A= (n.7876-2A=)
c.7213-2A= (n.7213-2A=)
c.11728-2A= (n.11728-2A=)
5g.13708338G>CCA2673266642DNAH5n.459-3C>G
c.13126-3C>G (n.13126-3C>G)
c.13081-3C>G (n.13081-3C>G)
c.13234-3C>G (n.13234-3C>G)
c.12814-3C>G (n.12814-3C>G)
c.12139-3C>G (n.12139-3C>G)
c.8323-3C>G (n.8323-3C>G)
c.7876-3C>G (n.7876-3C>G)
c.7213-3C>G (n.7213-3C>G)
c.11728-3C>G (n.11728-3C>G)
 gnomAD v4
5g.13708340C>TCA2673266643DNAH5n.459-5G>A
c.13126-5G>A (n.13126-5G>A)
c.13081-5G>A (n.13081-5G>A)
c.13234-5G>A (n.13234-5G>A)
c.12814-5G>A (n.12814-5G>A)
c.12139-5G>A (n.12139-5G>A)
c.8323-5G>A (n.8323-5G>A)
c.7876-5G>A (n.7876-5G>A)
c.7213-5G>A (n.7213-5G>A)
c.11728-5G>A (n.11728-5G>A)
 gnomAD v4
5g.13708341A=CA1528403816DNAH5n.459-6T=
c.13126-6T= (n.13126-6T=)
c.13081-6T= (n.13081-6T=)
c.13234-6T= (n.13234-6T=)
c.12814-6T= (n.12814-6T=)
c.12139-6T= (n.12139-6T=)
c.8323-6T= (n.8323-6T=)
c.7876-6T= (n.7876-6T=)
c.7213-6T= (n.7213-6T=)
c.11728-6T= (n.11728-6T=)
5g.13708341A>GCA557862790DNAH5n.459-6T>C
c.13126-6T>C (n.13126-6T>C)
c.13081-6T>C (n.13081-6T>C)
c.13234-6T>C (n.13234-6T>C)
c.12814-6T>C (n.12814-6T>C)
c.12139-6T>C (n.12139-6T>C)
c.8323-6T>C (n.8323-6T>C)
c.7876-6T>C (n.7876-6T>C)
c.7213-6T>C (n.7213-6T>C)
c.11728-6T>C (n.11728-6T>C)
 dbSNP gnomAD v2 gnomAD v4
5g.13708341A>TCA2673266644DNAH5n.459-6T>A
c.13126-6T>A (n.13126-6T>A)
c.13081-6T>A (n.13081-6T>A)
c.13234-6T>A (n.13234-6T>A)
c.12814-6T>A (n.12814-6T>A)
c.12139-6T>A (n.12139-6T>A)
c.8323-6T>A (n.8323-6T>A)
c.7876-6T>A (n.7876-6T>A)
c.7213-6T>A (n.7213-6T>A)
c.11728-6T>A (n.11728-6T>A)
 gnomAD v4
5g.13708342T>ACA1528403818DNAH5n.459-7A>T
c.13126-7A>T (n.13126-7A>T)
c.13081-7A>T (n.13081-7A>T)
c.13234-7A>T (n.13234-7A>T)
c.12814-7A>T (n.12814-7A>T)
c.12139-7A>T (n.12139-7A>T)
c.8323-7A>T (n.8323-7A>T)
c.7876-7A>T (n.7876-7A>T)
c.7213-7A>T (n.7213-7A>T)
c.11728-7A>T (n.11728-7A>T)
 dbSNP
5g.13708342T>CCA2580071999DNAH5n.459-7A>G
c.13126-7A>G (n.13126-7A>G)
c.13081-7A>G (n.13081-7A>G)
c.13234-7A>G (n.13234-7A>G)
c.12814-7A>G (n.12814-7A>G)
c.12139-7A>G (n.12139-7A>G)
c.8323-7A>G (n.8323-7A>G)
c.7876-7A>G (n.7876-7A>G)
c.7213-7A>G (n.7213-7A>G)
c.11728-7A>G (n.11728-7A>G)
 ClinVar gnomAD v4
5g.13708342T=CA1528403817DNAH5n.459-7A=
c.13126-7A= (n.13126-7A=)
c.13081-7A= (n.13081-7A=)
c.13234-7A= (n.13234-7A=)
c.12814-7A= (n.12814-7A=)
c.12139-7A= (n.12139-7A=)
c.8323-7A= (n.8323-7A=)
c.7876-7A= (n.7876-7A=)
c.7213-7A= (n.7213-7A=)
c.11728-7A= (n.11728-7A=)
5g.13708345A>TCA2578269596DNAH5n.459-10T>A
c.13126-10T>A (n.13126-10T>A)
c.13081-10T>A (n.13081-10T>A)
c.13234-10T>A (n.13234-10T>A)
c.12814-10T>A (n.12814-10T>A)
c.12139-10T>A (n.12139-10T>A)
c.8323-10T>A (n.8323-10T>A)
c.7876-10T>A (n.7876-10T>A)
c.7213-10T>A (n.7213-10T>A)
c.11728-10T>A (n.11728-10T>A)
5g.13708348C=CA1528403819DNAH5n.459-13G=
c.13126-13G= (n.13126-13G=)
c.13081-13G= (n.13081-13G=)
c.13234-13G= (n.13234-13G=)
c.12814-13G= (n.12814-13G=)
c.12139-13G= (n.12139-13G=)
c.8323-13G= (n.8323-13G=)
c.7876-13G= (n.7876-13G=)
c.7213-13G= (n.7213-13G=)
c.11728-13G= (n.11728-13G=)
5g.13708348C>TCA557862791DNAH5n.459-13G>A
c.13126-13G>A (n.13126-13G>A)
c.13081-13G>A (n.13081-13G>A)
c.13234-13G>A (n.13234-13G>A)
c.12814-13G>A (n.12814-13G>A)
c.12139-13G>A (n.12139-13G>A)
c.8323-13G>A (n.8323-13G>A)
c.7876-13G>A (n.7876-13G>A)
c.7213-13G>A (n.7213-13G>A)
c.11728-13G>A (n.11728-13G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13708349A>GCA2673266645DNAH5n.459-14T>C
c.13126-14T>C (n.13126-14T>C)
c.13081-14T>C (n.13081-14T>C)
c.13234-14T>C (n.13234-14T>C)
c.12814-14T>C (n.12814-14T>C)
c.12139-14T>C (n.12139-14T>C)
c.8323-14T>C (n.8323-14T>C)
c.7876-14T>C (n.7876-14T>C)
c.7213-14T>C (n.7213-14T>C)
c.11728-14T>C (n.11728-14T>C)
 gnomAD v4
5g.13708350T>CCA2673266646DNAH5n.459-15A>G
c.13126-15A>G (n.13126-15A>G)
c.13081-15A>G (n.13081-15A>G)
c.13234-15A>G (n.13234-15A>G)
c.12814-15A>G (n.12814-15A>G)
c.12139-15A>G (n.12139-15A>G)
c.8323-15A>G (n.8323-15A>G)
c.7876-15A>G (n.7876-15A>G)
c.7213-15A>G (n.7213-15A>G)
c.11728-15A>G (n.11728-15A>G)
 gnomAD v4
5g.13708351T>GCA2673266647DNAH5n.459-16A>C
c.13126-16A>C (n.13126-16A>C)
c.13081-16A>C (n.13081-16A>C)
c.13234-16A>C (n.13234-16A>C)
c.12814-16A>C (n.12814-16A>C)
c.12139-16A>C (n.12139-16A>C)
c.8323-16A>C (n.8323-16A>C)
c.7876-16A>C (n.7876-16A>C)
c.7213-16A>C (n.7213-16A>C)
c.11728-16A>C (n.11728-16A>C)
 gnomAD v4
5g.13708352C=CA1528403820DNAH5n.459-17G=
c.13126-17G= (n.13126-17G=)
c.13081-17G= (n.13081-17G=)
c.13234-17G= (n.13234-17G=)
c.12814-17G= (n.12814-17G=)
c.12139-17G= (n.12139-17G=)
c.8323-17G= (n.8323-17G=)
c.7876-17G= (n.7876-17G=)
c.7213-17G= (n.7213-17G=)
c.11728-17G= (n.11728-17G=)
5g.13708352C>GCA1528403821DNAH5n.459-17G>C
c.13126-17G>C (n.13126-17G>C)
c.13081-17G>C (n.13081-17G>C)
c.13234-17G>C (n.13234-17G>C)
c.12814-17G>C (n.12814-17G>C)
c.12139-17G>C (n.12139-17G>C)
c.8323-17G>C (n.8323-17G>C)
c.7876-17G>C (n.7876-17G>C)
c.7213-17G>C (n.7213-17G>C)
c.11728-17G>C (n.11728-17G>C)
 dbSNP
5g.13708356G=CA1528403822DNAH5n.459-21C=
c.13126-21C= (n.13126-21C=)
c.13081-21C= (n.13081-21C=)
c.13234-21C= (n.13234-21C=)
c.12814-21C= (n.12814-21C=)
c.12139-21C= (n.12139-21C=)
c.8323-21C= (n.8323-21C=)
c.7876-21C= (n.7876-21C=)
c.7213-21C= (n.7213-21C=)
c.11728-21C= (n.11728-21C=)
5g.13708356G>TCA557862792DNAH5n.459-21C>A
c.13126-21C>A (n.13126-21C>A)
c.13081-21C>A (n.13081-21C>A)
c.13234-21C>A (n.13234-21C>A)
c.12814-21C>A (n.12814-21C>A)
c.12139-21C>A (n.12139-21C>A)
c.8323-21C>A (n.8323-21C>A)
c.7876-21C>A (n.7876-21C>A)
c.7213-21C>A (n.7213-21C>A)
c.11728-21C>A (n.11728-21C>A)
 dbSNP gnomAD v2 gnomAD v4
5g.13708357C=CA1528403823DNAH5n.459-22G=
c.13126-22G= (n.13126-22G=)
c.13081-22G= (n.13081-22G=)
c.13234-22G= (n.13234-22G=)
c.12814-22G= (n.12814-22G=)
c.12139-22G= (n.12139-22G=)
c.8323-22G= (n.8323-22G=)
c.7876-22G= (n.7876-22G=)
c.7213-22G= (n.7213-22G=)
c.11728-22G= (n.11728-22G=)
5g.13708357C>TCA3201437DNAH5n.459-22G>A
c.13126-22G>A (n.13126-22G>A)
c.13081-22G>A (n.13081-22G>A)
c.13234-22G>A (n.13234-22G>A)
c.12814-22G>A (n.12814-22G>A)
c.12139-22G>A (n.12139-22G>A)
c.8323-22G>A (n.8323-22G>A)
c.7876-22G>A (n.7876-22G>A)
c.7213-22G>A (n.7213-22G>A)
c.11728-22G>A (n.11728-22G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13708359C=CA1528403824DNAH5n.459-24G=
c.13126-24G= (n.13126-24G=)
c.13081-24G= (n.13081-24G=)
c.13234-24G= (n.13234-24G=)
c.12814-24G= (n.12814-24G=)
c.12139-24G= (n.12139-24G=)
c.8323-24G= (n.8323-24G=)
c.7876-24G= (n.7876-24G=)
c.7213-24G= (n.7213-24G=)
c.11728-24G= (n.11728-24G=)
5g.13708359C>TCA3201438DNAH5n.459-24G>A
c.13126-24G>A (n.13126-24G>A)
c.13081-24G>A (n.13081-24G>A)
c.13234-24G>A (n.13234-24G>A)
c.12814-24G>A (n.12814-24G>A)
c.12139-24G>A (n.12139-24G>A)
c.8323-24G>A (n.8323-24G>A)
c.7876-24G>A (n.7876-24G>A)
c.7213-24G>A (n.7213-24G>A)
c.11728-24G>A (n.11728-24G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13708360A=CA1528403825DNAH5n.459-25T=
c.13126-25T= (n.13126-25T=)
c.13081-25T= (n.13081-25T=)
c.13234-25T= (n.13234-25T=)
c.12814-25T= (n.12814-25T=)
c.12139-25T= (n.12139-25T=)
c.8323-25T= (n.8323-25T=)
c.7876-25T= (n.7876-25T=)
c.7213-25T= (n.7213-25T=)
c.11728-25T= (n.11728-25T=)
5g.13708360A>CCA3201439DNAH5n.459-25T>G
c.13126-25T>G (n.13126-25T>G)
c.13081-25T>G (n.13081-25T>G)
c.13234-25T>G (n.13234-25T>G)
c.12814-25T>G (n.12814-25T>G)
c.12139-25T>G (n.12139-25T>G)
c.8323-25T>G (n.8323-25T>G)
c.7876-25T>G (n.7876-25T>G)
c.7213-25T>G (n.7213-25T>G)
c.11728-25T>G (n.11728-25T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13708360A>GCA2578269597DNAH5n.459-25T>C
c.13126-25T>C (n.13126-25T>C)
c.13081-25T>C (n.13081-25T>C)
c.13234-25T>C (n.13234-25T>C)
c.12814-25T>C (n.12814-25T>C)
c.12139-25T>C (n.12139-25T>C)
c.8323-25T>C (n.8323-25T>C)
c.7876-25T>C (n.7876-25T>C)
c.7213-25T>C (n.7213-25T>C)
c.11728-25T>C (n.11728-25T>C)
5g.13708360_13708370delinsATGTTAACAATCA1528403826DNAH5n.459-35_459-25delinsATTGTTAACAT
c.13126-35_13126-25delinsATTGTTAACAT (n.13126-35_13126-25delinsATTGTTAACAT)
c.13081-35_13081-25delinsATTGTTAACAT (n.13081-35_13081-25delinsATTGTTAACAT)
c.13234-35_13234-25delinsATTGTTAACAT (n.13234-35_13234-25delinsATTGTTAACAT)
c.12814-35_12814-25delinsATTGTTAACAT (n.12814-35_12814-25delinsATTGTTAACAT)
c.12139-35_12139-25delinsATTGTTAACAT (n.12139-35_12139-25delinsATTGTTAACAT)
c.8323-35_8323-25delinsATTGTTAACAT (n.8323-35_8323-25delinsATTGTTAACAT)
c.7876-35_7876-25delinsATTGTTAACAT (n.7876-35_7876-25delinsATTGTTAACAT)
c.7213-35_7213-25delinsATTGTTAACAT (n.7213-35_7213-25delinsATTGTTAACAT)
c.11728-35_11728-25delinsATTGTTAACAT (n.11728-35_11728-25delinsATTGTTAACAT)
5g.13708361T>ACA1528403828DNAH5n.459-26A>T
c.13126-26A>T (n.13126-26A>T)
c.13081-26A>T (n.13081-26A>T)
c.13234-26A>T (n.13234-26A>T)
c.12814-26A>T (n.12814-26A>T)
c.12139-26A>T (n.12139-26A>T)
c.8323-26A>T (n.8323-26A>T)
c.7876-26A>T (n.7876-26A>T)
c.7213-26A>T (n.7213-26A>T)
c.11728-26A>T (n.11728-26A>T)
 dbSNP
5g.13708361T>CCA3201440DNAH5n.459-26A>G
c.13126-26A>G (n.13126-26A>G)
c.13081-26A>G (n.13081-26A>G)
c.13234-26A>G (n.13234-26A>G)
c.12814-26A>G (n.12814-26A>G)
c.12139-26A>G (n.12139-26A>G)
c.8323-26A>G (n.8323-26A>G)
c.7876-26A>G (n.7876-26A>G)
c.7213-26A>G (n.7213-26A>G)
c.11728-26A>G (n.11728-26A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13708361T=CA1528403827DNAH5n.459-26A=
c.13126-26A= (n.13126-26A=)
c.13081-26A= (n.13081-26A=)
c.13234-26A= (n.13234-26A=)
c.12814-26A= (n.12814-26A=)
c.12139-26A= (n.12139-26A=)
c.8323-26A= (n.8323-26A=)
c.7876-26A= (n.7876-26A=)
c.7213-26A= (n.7213-26A=)
c.11728-26A= (n.11728-26A=)
5g.13708362_13708371delCA804359731DNAH5n.459-35_459-26del
c.13126-35_13126-26del (n.13126-35_13126-26del)
c.13081-35_13081-26del (n.13081-35_13081-26del)
c.13234-35_13234-26del (n.13234-35_13234-26del)
c.12814-35_12814-26del (n.12814-35_12814-26del)
c.12139-35_12139-26del (n.12139-35_12139-26del)
c.8323-35_8323-26del (n.8323-35_8323-26del)
c.7876-35_7876-26del (n.7876-35_7876-26del)
c.7213-35_7213-26del (n.7213-35_7213-26del)
c.11728-35_11728-26del (n.11728-35_11728-26del)
 dbSNP gnomAD v4
5g.13708362G>TCA649755449DNAH5n.459-27C>A
c.13126-27C>A (n.13126-27C>A)
c.13081-27C>A (n.13081-27C>A)
c.13234-27C>A (n.13234-27C>A)
c.12814-27C>A (n.12814-27C>A)
c.12139-27C>A (n.12139-27C>A)
c.8323-27C>A (n.8323-27C>A)
c.7876-27C>A (n.7876-27C>A)
c.7213-27C>A (n.7213-27C>A)
c.11728-27C>A (n.11728-27C>A)
 COSMIC
5g.13708363T>CCA1528403830DNAH5n.459-28A>G
c.13126-28A>G (n.13126-28A>G)
c.13081-28A>G (n.13081-28A>G)
c.13234-28A>G (n.13234-28A>G)
c.12814-28A>G (n.12814-28A>G)
c.12139-28A>G (n.12139-28A>G)
c.8323-28A>G (n.8323-28A>G)
c.7876-28A>G (n.7876-28A>G)
c.7213-28A>G (n.7213-28A>G)
c.11728-28A>G (n.11728-28A>G)
 dbSNP
5g.13708363T>GCA3201441DNAH5n.459-28A>C
c.13126-28A>C (n.13126-28A>C)
c.13081-28A>C (n.13081-28A>C)
c.13234-28A>C (n.13234-28A>C)
c.12814-28A>C (n.12814-28A>C)
c.12139-28A>C (n.12139-28A>C)
c.8323-28A>C (n.8323-28A>C)
c.7876-28A>C (n.7876-28A>C)
c.7213-28A>C (n.7213-28A>C)
c.11728-28A>C (n.11728-28A>C)
 dbSNP ExAC gnomAD v2
5g.13708363T=CA1528403829DNAH5n.459-28A=
c.13126-28A= (n.13126-28A=)
c.13081-28A= (n.13081-28A=)
c.13234-28A= (n.13234-28A=)
c.12814-28A= (n.12814-28A=)
c.12139-28A= (n.12139-28A=)
c.8323-28A= (n.8323-28A=)
c.7876-28A= (n.7876-28A=)
c.7213-28A= (n.7213-28A=)
c.11728-28A= (n.11728-28A=)

Number of alleles fetched