Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.13776643dupCA1073394401DNAH5c.9174dup (p.Glu3059ArgfsTer10)
c.9129dup (p.Glu3044ArgfsTer10)
c.9282dup (p.Glu3095ArgfsTer10)
c.8187dup (p.Glu2730ArgfsTer10)
c.*61dup (n.*61dup)
c.4371dup (p.Glu1458ArgfsTer10)
c.3924dup (p.Glu1309ArgfsTer10)
c.3261dup (p.Glu1088ArgfsTer10)
c.7776dup (p.Glu2593ArgfsTer10)
n.9168dup
n.9163dup
 dbSNP gnomAD v3 gnomAD v4
5g.13776639T>ACA359209370DNAH5c.9173A>T (p.Lys3058Ile)
c.9128A>T (p.Lys3043Ile)
c.9281A>T (p.Lys3094Ile)
c.8186A>T (p.Lys2729Ile)
c.*60A>T (n.*60A>T)
c.4370A>T (p.Lys1457Ile)
c.3923A>T (p.Lys1308Ile)
c.3260A>T (p.Lys1087Ile)
c.7775A>T (p.Lys2592Ile)
n.9167A>T
n.9162A>T
5g.13776639T>CCA359209373DNAH5c.9173A>G (p.Lys3058Arg)
c.9128A>G (p.Lys3043Arg)
c.9281A>G (p.Lys3094Arg)
c.8186A>G (p.Lys2729Arg)
c.*60A>G (n.*60A>G)
c.4370A>G (p.Lys1457Arg)
c.3923A>G (p.Lys1308Arg)
c.3260A>G (p.Lys1087Arg)
c.7775A>G (p.Lys2592Arg)
n.9167A>G
n.9162A>G
5g.13776639T>GCA359209375DNAH5c.9173A>C (p.Lys3058Thr)
c.9128A>C (p.Lys3043Thr)
c.9281A>C (p.Lys3094Thr)
c.8186A>C (p.Lys2729Thr)
c.*60A>C (n.*60A>C)
c.4370A>C (p.Lys1457Thr)
c.3923A>C (p.Lys1308Thr)
c.3260A>C (p.Lys1087Thr)
c.7775A>C (p.Lys2592Thr)
n.9167A>C
n.9162A>C
5g.13776640T>ACA359209379DNAH5c.9172A>T (p.Lys3058Ter)
c.9127A>T (p.Lys3043Ter)
c.9280A>T (p.Lys3094Ter)
c.8185A>T (p.Lys2729Ter)
c.*59A>T (n.*59A>T)
c.4369A>T (p.Lys1457Ter)
c.3922A>T (p.Lys1308Ter)
c.3259A>T (p.Lys1087Ter)
c.7774A>T (p.Lys2592Ter)
n.9166A>T
n.9161A>T
5g.13776640T>CCA359209384DNAH5c.9172A>G (p.Lys3058Glu)
c.9127A>G (p.Lys3043Glu)
c.9280A>G (p.Lys3094Glu)
c.8185A>G (p.Lys2729Glu)
c.*59A>G (n.*59A>G)
c.4369A>G (p.Lys1457Glu)
c.3922A>G (p.Lys1308Glu)
c.3259A>G (p.Lys1087Glu)
c.7774A>G (p.Lys2592Glu)
n.9166A>G
n.9161A>G
5g.13776640T>GCA359209395DNAH5c.9172A>C (p.Lys3058Gln)
c.9127A>C (p.Lys3043Gln)
c.9280A>C (p.Lys3094Gln)
c.8185A>C (p.Lys2729Gln)
c.*59A>C (n.*59A>C)
c.4369A>C (p.Lys1457Gln)
c.3922A>C (p.Lys1308Gln)
c.3259A>C (p.Lys1087Gln)
c.7774A>C (p.Lys2592Gln)
n.9166A>C
n.9161A>C
5g.13776641T>ACA359209402DNAH5c.9171A>T (p.Lys3057Asn)
c.9126A>T (p.Lys3042Asn)
c.9279A>T (p.Lys3093Asn)
c.8184A>T (p.Lys2728Asn)
c.*58A>T (n.*58A>T)
c.4368A>T (p.Lys1456Asn)
c.3921A>T (p.Lys1307Asn)
c.3258A>T (p.Lys1086Asn)
c.7773A>T (p.Lys2591Asn)
n.9165A>T
n.9160A>T
5g.13776641T>CCA3202598DNAH5c.9171A>G (p.Lys3057=)
c.9126A>G (p.Lys3042=)
c.9279A>G (p.Lys3093=)
c.8184A>G (p.Lys2728=)
c.*58A>G (n.*58A>G)
c.4368A>G (p.Lys1456=)
c.3921A>G (p.Lys1307=)
c.3258A>G (p.Lys1086=)
c.7773A>G (p.Lys2591=)
n.9165A>G
n.9160A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13776641T>GCA359209408DNAH5c.9171A>C (p.Lys3057Asn)
c.9126A>C (p.Lys3042Asn)
c.9279A>C (p.Lys3093Asn)
c.8184A>C (p.Lys2728Asn)
c.*58A>C (n.*58A>C)
c.4368A>C (p.Lys1456Asn)
c.3921A>C (p.Lys1307Asn)
c.3258A>C (p.Lys1086Asn)
c.7773A>C (p.Lys2591Asn)
n.9165A>C
n.9160A>C
5g.13776641T=CA1528435320DNAH5c.9171A= (p.Lys3057=)
c.9126A= (p.Lys3042=)
c.9279A= (p.Lys3093=)
c.8184A= (p.Lys2728=)
c.*58A= (n.*58A=)
c.4368A= (p.Lys1456=)
c.3921A= (p.Lys1307=)
c.3258A= (p.Lys1086=)
c.7773A= (p.Lys2591=)
n.9165A=
n.9160A=
5g.13776642T>ACA359209414DNAH5c.9170A>T (p.Lys3057Ile)
c.9125A>T (p.Lys3042Ile)
c.9278A>T (p.Lys3093Ile)
c.8183A>T (p.Lys2728Ile)
c.*57A>T (n.*57A>T)
c.4367A>T (p.Lys1456Ile)
c.3920A>T (p.Lys1307Ile)
c.3257A>T (p.Lys1086Ile)
c.7772A>T (p.Lys2591Ile)
n.9164A>T
n.9159A>T
5g.13776642T>CCA359209413DNAH5c.9170A>G (p.Lys3057Arg)
c.9125A>G (p.Lys3042Arg)
c.9278A>G (p.Lys3093Arg)
c.8183A>G (p.Lys2728Arg)
c.*57A>G (n.*57A>G)
c.4367A>G (p.Lys1456Arg)
c.3920A>G (p.Lys1307Arg)
c.3257A>G (p.Lys1086Arg)
c.7772A>G (p.Lys2591Arg)
n.9164A>G
n.9159A>G
 gnomAD v4 COSMIC
5g.13776642T>GCA359209412DNAH5c.9170A>C (p.Lys3057Thr)
c.9125A>C (p.Lys3042Thr)
c.9278A>C (p.Lys3093Thr)
c.8183A>C (p.Lys2728Thr)
c.*57A>C (n.*57A>C)
c.4367A>C (p.Lys1456Thr)
c.3920A>C (p.Lys1307Thr)
c.3257A>C (p.Lys1086Thr)
c.7772A>C (p.Lys2591Thr)
n.9164A>C
n.9159A>C
5g.13776643T>ACA359209415DNAH5c.9169A>T (p.Lys3057Ter)
c.9124A>T (p.Lys3042Ter)
c.9277A>T (p.Lys3093Ter)
c.8182A>T (p.Lys2728Ter)
c.*56A>T (n.*56A>T)
c.4366A>T (p.Lys1456Ter)
c.3919A>T (p.Lys1307Ter)
c.3256A>T (p.Lys1086Ter)
c.7771A>T (p.Lys2591Ter)
n.9163A>T
n.9158A>T
5g.13776643T>CCA359209416DNAH5c.9169A>G (p.Lys3057Glu)
c.9124A>G (p.Lys3042Glu)
c.9277A>G (p.Lys3093Glu)
c.8182A>G (p.Lys2728Glu)
c.*56A>G (n.*56A>G)
c.4366A>G (p.Lys1456Glu)
c.3919A>G (p.Lys1307Glu)
c.3256A>G (p.Lys1086Glu)
c.7771A>G (p.Lys2591Glu)
n.9163A>G
n.9158A>G
5g.13776643T>GCA359209419DNAH5c.9169A>C (p.Lys3057Gln)
c.9124A>C (p.Lys3042Gln)
c.9277A>C (p.Lys3093Gln)
c.8182A>C (p.Lys2728Gln)
c.*56A>C (n.*56A>C)
c.4366A>C (p.Lys1456Gln)
c.3919A>C (p.Lys1307Gln)
c.3256A>C (p.Lys1086Gln)
c.7771A>C (p.Lys2591Gln)
n.9163A>C
n.9158A>C
5g.13776644C>ACA359209420DNAH5c.9168G>T (p.Met3056Ile)
c.9123G>T (p.Met3041Ile)
c.*55G>T (n.*55G>T)
n.9239G>T
c.9276G>T (p.Met3092Ile)
c.8181G>T (p.Met2727Ile)
c.4365G>T (p.Met1455Ile)
c.3918G>T (p.Met1306Ile)
c.3255G>T (p.Met1085Ile)
c.7770G>T (p.Met2590Ile)
n.9162G>T
n.9157G>T
5g.13776644C>GCA359209422DNAH5c.9168G>C (p.Met3056Ile)
c.9123G>C (p.Met3041Ile)
c.*55G>C (n.*55G>C)
n.9239G>C
c.9276G>C (p.Met3092Ile)
c.8181G>C (p.Met2727Ile)
c.4365G>C (p.Met1455Ile)
c.3918G>C (p.Met1306Ile)
c.3255G>C (p.Met1085Ile)
c.7770G>C (p.Met2590Ile)
n.9162G>C
n.9157G>C
5g.13776644C>TCA359209423DNAH5c.9168G>A (p.Met3056Ile)
c.9123G>A (p.Met3041Ile)
c.*55G>A (n.*55G>A)
n.9239G>A
c.9276G>A (p.Met3092Ile)
c.8181G>A (p.Met2727Ile)
c.4365G>A (p.Met1455Ile)
c.3918G>A (p.Met1306Ile)
c.3255G>A (p.Met1085Ile)
c.7770G>A (p.Met2590Ile)
n.9162G>A
n.9157G>A
5g.13776645A>CCA359209429DNAH5c.9167T>G (p.Met3056Arg)
c.9122T>G (p.Met3041Arg)
c.*54T>G (n.*54T>G)
n.9238T>G
c.9275T>G (p.Met3092Arg)
c.8180T>G (p.Met2727Arg)
c.4364T>G (p.Met1455Arg)
c.3917T>G (p.Met1306Arg)
c.3254T>G (p.Met1085Arg)
c.7769T>G (p.Met2590Arg)
n.9161T>G
n.9156T>G
5g.13776645A>GCA359209436DNAH5c.9167T>C (p.Met3056Thr)
c.9122T>C (p.Met3041Thr)
c.*54T>C (n.*54T>C)
n.9238T>C
c.9275T>C (p.Met3092Thr)
c.8180T>C (p.Met2727Thr)
c.4364T>C (p.Met1455Thr)
c.3917T>C (p.Met1306Thr)
c.3254T>C (p.Met1085Thr)
c.7769T>C (p.Met2590Thr)
n.9161T>C
n.9156T>C
5g.13776645A>TCA359209437DNAH5c.9167T>A (p.Met3056Lys)
c.9122T>A (p.Met3041Lys)
c.*54T>A (n.*54T>A)
n.9238T>A
c.9275T>A (p.Met3092Lys)
c.8180T>A (p.Met2727Lys)
c.4364T>A (p.Met1455Lys)
c.3917T>A (p.Met1306Lys)
c.3254T>A (p.Met1085Lys)
c.7769T>A (p.Met2590Lys)
n.9161T>A
n.9156T>A
5g.13776646T>ACA359209440DNAH5c.9166A>T (p.Met3056Leu)
c.9121A>T (p.Met3041Leu)
c.*53A>T (n.*53A>T)
n.9237A>T
c.9274A>T (p.Met3092Leu)
c.8179A>T (p.Met2727Leu)
c.4363A>T (p.Met1455Leu)
c.3916A>T (p.Met1306Leu)
c.3253A>T (p.Met1085Leu)
c.7768A>T (p.Met2590Leu)
n.9160A>T
n.9155A>T
5g.13776646T>CCA113937749DNAH5c.9166A>G (p.Met3056Val)
c.9121A>G (p.Met3041Val)
c.*53A>G (n.*53A>G)
n.9237A>G
c.9274A>G (p.Met3092Val)
c.8179A>G (p.Met2727Val)
c.4363A>G (p.Met1455Val)
c.3916A>G (p.Met1306Val)
c.3253A>G (p.Met1085Val)
c.7768A>G (p.Met2590Val)
n.9160A>G
n.9155A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13776646T>GCA359209443DNAH5c.9166A>C (p.Met3056Leu)
c.9121A>C (p.Met3041Leu)
c.*53A>C (n.*53A>C)
n.9237A>C
c.9274A>C (p.Met3092Leu)
c.8179A>C (p.Met2727Leu)
c.4363A>C (p.Met1455Leu)
c.3916A>C (p.Met1306Leu)
c.3253A>C (p.Met1085Leu)
c.7768A>C (p.Met2590Leu)
n.9160A>C
n.9155A>C
5g.13776646T=CA1528435325DNAH5c.9166A= (p.Met3056=)
c.9121A= (p.Met3041=)
c.*53A= (n.*53A=)
n.9237A=
c.9274A= (p.Met3092=)
c.8179A= (p.Met2727=)
c.4363A= (p.Met1455=)
c.3916A= (p.Met1306=)
c.3253A= (p.Met1085=)
c.7768A= (p.Met2590=)
n.9160A=
n.9155A=
5g.13776647G>ACA443535713DNAH5c.9165C>T (p.Val3055=)
c.9120C>T (p.Val3040=)
c.*52C>T (n.*52C>T)
n.9236C>T
c.9273C>T (p.Val3091=)
c.8178C>T (p.Val2726=)
c.4362C>T (p.Val1454=)
c.3915C>T (p.Val1305=)
c.3252C>T (p.Val1084=)
c.7767C>T (p.Val2589=)
n.9159C>T
n.9154C>T
 ClinVar dbSNP
5g.13776647G>CCA443535716DNAH5c.9165C>G (p.Val3055=)
c.9120C>G (p.Val3040=)
c.*52C>G (n.*52C>G)
n.9236C>G
c.9273C>G (p.Val3091=)
c.8178C>G (p.Val2726=)
c.4362C>G (p.Val1454=)
c.3915C>G (p.Val1305=)
c.3252C>G (p.Val1084=)
c.7767C>G (p.Val2589=)
n.9159C>G
n.9154C>G
5g.13776647G=CA1528435330DNAH5c.9165C= (p.Val3055=)
c.9120C= (p.Val3040=)
c.*52C= (n.*52C=)
n.9236C=
c.9273C= (p.Val3091=)
c.8178C= (p.Val2726=)
c.4362C= (p.Val1454=)
c.3915C= (p.Val1305=)
c.3252C= (p.Val1084=)
c.7767C= (p.Val2589=)
n.9159C=
n.9154C=
5g.13776647G>TCA443535718DNAH5c.9165C>A (p.Val3055=)
c.9120C>A (p.Val3040=)
c.*52C>A (n.*52C>A)
n.9236C>A
c.9273C>A (p.Val3091=)
c.8178C>A (p.Val2726=)
c.4362C>A (p.Val1454=)
c.3915C>A (p.Val1305=)
c.3252C>A (p.Val1084=)
c.7767C>A (p.Val2589=)
n.9159C>A
n.9154C>A
5g.13776648A>CCA359209446DNAH5c.9164T>G (p.Val3055Gly)
c.9119T>G (p.Val3040Gly)
c.*51T>G (n.*51T>G)
n.9235T>G
c.9272T>G (p.Val3091Gly)
c.8177T>G (p.Val2726Gly)
c.4361T>G (p.Val1454Gly)
c.3914T>G (p.Val1305Gly)
c.3251T>G (p.Val1084Gly)
c.7766T>G (p.Val2589Gly)
n.9158T>G
n.9153T>G
5g.13776648A>GCA359209448DNAH5c.9164T>C (p.Val3055Ala)
c.9119T>C (p.Val3040Ala)
c.*51T>C (n.*51T>C)
n.9235T>C
c.9272T>C (p.Val3091Ala)
c.8177T>C (p.Val2726Ala)
c.4361T>C (p.Val1454Ala)
c.3914T>C (p.Val1305Ala)
c.3251T>C (p.Val1084Ala)
c.7766T>C (p.Val2589Ala)
n.9158T>C
n.9153T>C
5g.13776648A>TCA359209449DNAH5c.9164T>A (p.Val3055Asp)
c.9119T>A (p.Val3040Asp)
c.*51T>A (n.*51T>A)
n.9235T>A
c.9272T>A (p.Val3091Asp)
c.8177T>A (p.Val2726Asp)
c.4361T>A (p.Val1454Asp)
c.3914T>A (p.Val1305Asp)
c.3251T>A (p.Val1084Asp)
c.7766T>A (p.Val2589Asp)
n.9158T>A
n.9153T>A
5g.13776649C>ACA359209452DNAH5c.9163G>T (p.Val3055Phe)
c.9118G>T (p.Val3040Phe)
c.*50G>T (n.*50G>T)
n.9234G>T
c.9271G>T (p.Val3091Phe)
c.8176G>T (p.Val2726Phe)
c.4360G>T (p.Val1454Phe)
c.3913G>T (p.Val1305Phe)
c.3250G>T (p.Val1084Phe)
c.7765G>T (p.Val2589Phe)
n.9157G>T
n.9152G>T
 dbSNP
5g.13776649C=CA1528435332DNAH5c.9163G= (p.Val3055=)
c.9118G= (p.Val3040=)
c.*50G= (n.*50G=)
n.9234G=
c.9271G= (p.Val3091=)
c.8176G= (p.Val2726=)
c.4360G= (p.Val1454=)
c.3913G= (p.Val1305=)
c.3250G= (p.Val1084=)
c.7765G= (p.Val2589=)
n.9157G=
n.9152G=
5g.13776649C>GCA359209454DNAH5c.9163G>C (p.Val3055Leu)
c.9118G>C (p.Val3040Leu)
c.*50G>C (n.*50G>C)
n.9234G>C
c.9271G>C (p.Val3091Leu)
c.8176G>C (p.Val2726Leu)
c.4360G>C (p.Val1454Leu)
c.3913G>C (p.Val1305Leu)
c.3250G>C (p.Val1084Leu)
c.7765G>C (p.Val2589Leu)
n.9157G>C
n.9152G>C
5g.13776649C>TCA359209450DNAH5c.9163G>A (p.Val3055Ile)
c.9118G>A (p.Val3040Ile)
c.*50G>A (n.*50G>A)
n.9234G>A
c.9271G>A (p.Val3091Ile)
c.8176G>A (p.Val2726Ile)
c.4360G>A (p.Val1454Ile)
c.3913G>A (p.Val1305Ile)
c.3250G>A (p.Val1084Ile)
c.7765G>A (p.Val2589Ile)
n.9157G>A
n.9152G>A
 dbSNP gnomAD v3 gnomAD v4
5g.13776650T>ACA443535726DNAH5c.9162A>T (p.Ser3054=)
c.9117A>T (p.Ser3039=)
c.*49A>T (n.*49A>T)
n.9233A>T
c.9270A>T (p.Ser3090=)
c.8175A>T (p.Ser2725=)
c.4359A>T (p.Ser1453=)
c.3912A>T (p.Ser1304=)
c.3249A>T (p.Ser1083=)
c.7764A>T (p.Ser2588=)
n.9156A>T
n.9151A>T
 gnomAD v4
5g.13776650T>CCA443535727DNAH5c.9162A>G (p.Ser3054=)
c.9117A>G (p.Ser3039=)
c.*49A>G (n.*49A>G)
n.9233A>G
c.9270A>G (p.Ser3090=)
c.8175A>G (p.Ser2725=)
c.4359A>G (p.Ser1453=)
c.3912A>G (p.Ser1304=)
c.3249A>G (p.Ser1083=)
c.7764A>G (p.Ser2588=)
n.9156A>G
n.9151A>G
 dbSNP
5g.13776650T>GCA443535728DNAH5c.9162A>C (p.Ser3054=)
c.9117A>C (p.Ser3039=)
c.*49A>C (n.*49A>C)
n.9233A>C
c.9270A>C (p.Ser3090=)
c.8175A>C (p.Ser2725=)
c.4359A>C (p.Ser1453=)
c.3912A>C (p.Ser1304=)
c.3249A>C (p.Ser1083=)
c.7764A>C (p.Ser2588=)
n.9156A>C
n.9151A>C
5g.13776650T=CA1528435334DNAH5c.9162A= (p.Ser3054=)
c.9117A= (p.Ser3039=)
c.*49A= (n.*49A=)
n.9233A=
c.9270A= (p.Ser3090=)
c.8175A= (p.Ser2725=)
c.4359A= (p.Ser1453=)
c.3912A= (p.Ser1304=)
c.3249A= (p.Ser1083=)
c.7764A= (p.Ser2588=)
n.9156A=
n.9151A=
5g.13776651G>ACA359209463DNAH5c.9161C>T (p.Ser3054Leu)
c.9116C>T (p.Ser3039Leu)
c.*48C>T (n.*48C>T)
n.9232C>T
c.9269C>T (p.Ser3090Leu)
c.8174C>T (p.Ser2725Leu)
c.4358C>T (p.Ser1453Leu)
c.3911C>T (p.Ser1304Leu)
c.3248C>T (p.Ser1083Leu)
c.7763C>T (p.Ser2588Leu)
n.9155C>T
n.9150C>T
 gnomAD v4
5g.13776651G>CCA359209465DNAH5c.9161C>G (p.Ser3054Ter)
c.9116C>G (p.Ser3039Ter)
c.*48C>G (n.*48C>G)
n.9232C>G
c.9269C>G (p.Ser3090Ter)
c.8174C>G (p.Ser2725Ter)
c.4358C>G (p.Ser1453Ter)
c.3911C>G (p.Ser1304Ter)
c.3248C>G (p.Ser1083Ter)
c.7763C>G (p.Ser2588Ter)
n.9155C>G
n.9150C>G
 COSMIC
5g.13776651G>TCA359209467DNAH5c.9161C>A (p.Ser3054Ter)
c.9116C>A (p.Ser3039Ter)
c.*48C>A (n.*48C>A)
n.9232C>A
c.9269C>A (p.Ser3090Ter)
c.8174C>A (p.Ser2725Ter)
c.4358C>A (p.Ser1453Ter)
c.3911C>A (p.Ser1304Ter)
c.3248C>A (p.Ser1083Ter)
c.7763C>A (p.Ser2588Ter)
n.9155C>A
n.9150C>A
5g.13776652A=CA1528435338DNAH5c.9160T= (p.Ser3054=)
c.9115T= (p.Ser3039=)
c.*47T= (n.*47T=)
n.9231T=
c.9268T= (p.Ser3090=)
c.8173T= (p.Ser2725=)
c.4357T= (p.Ser1453=)
c.3910T= (p.Ser1304=)
c.3247T= (p.Ser1083=)
c.7762T= (p.Ser2588=)
n.9154T=
n.9149T=
5g.13776652A>CCA359209471DNAH5c.9160T>G (p.Ser3054Ala)
c.9115T>G (p.Ser3039Ala)
c.*47T>G (n.*47T>G)
n.9231T>G
c.9268T>G (p.Ser3090Ala)
c.8173T>G (p.Ser2725Ala)
c.4357T>G (p.Ser1453Ala)
c.3910T>G (p.Ser1304Ala)
c.3247T>G (p.Ser1083Ala)
c.7762T>G (p.Ser2588Ala)
n.9154T>G
n.9149T>G
5g.13776652A>GCA359209479DNAH5c.9160T>C (p.Ser3054Pro)
c.9115T>C (p.Ser3039Pro)
c.*47T>C (n.*47T>C)
n.9231T>C
c.9268T>C (p.Ser3090Pro)
c.8173T>C (p.Ser2725Pro)
c.4357T>C (p.Ser1453Pro)
c.3910T>C (p.Ser1304Pro)
c.3247T>C (p.Ser1083Pro)
c.7762T>C (p.Ser2588Pro)
n.9154T>C
n.9149T>C
5g.13776652A>TCA359209481DNAH5c.9160T>A (p.Ser3054Thr)
c.9115T>A (p.Ser3039Thr)
c.*47T>A (n.*47T>A)
n.9231T>A
c.9268T>A (p.Ser3090Thr)
c.8173T>A (p.Ser2725Thr)
c.4357T>A (p.Ser1453Thr)
c.3910T>A (p.Ser1304Thr)
c.3247T>A (p.Ser1083Thr)
c.7762T>A (p.Ser2588Thr)
n.9154T>A
n.9149T>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13776653T>ACA443535730DNAH5c.9159A>T (p.Ala3053=)
c.9114A>T (p.Ala3038=)
c.*46A>T (n.*46A>T)
n.9230A>T
c.9267A>T (p.Ala3089=)
c.8172A>T (p.Ala2724=)
c.4356A>T (p.Ala1452=)
c.3909A>T (p.Ala1303=)
c.3246A>T (p.Ala1082=)
c.7761A>T (p.Ala2587=)
n.9153A>T
n.9148A>T
5g.13776653T>CCA443535732DNAH5c.9159A>G (p.Ala3053=)
c.9114A>G (p.Ala3038=)
c.*46A>G (n.*46A>G)
n.9230A>G
c.9267A>G (p.Ala3089=)
c.8172A>G (p.Ala2724=)
c.4356A>G (p.Ala1452=)
c.3909A>G (p.Ala1303=)
c.3246A>G (p.Ala1082=)
c.7761A>G (p.Ala2587=)
n.9153A>G
n.9148A>G
 ClinVar gnomAD v4 COSMIC
5g.13776653T>GCA443535735DNAH5c.9159A>C (p.Ala3053=)
c.9114A>C (p.Ala3038=)
c.*46A>C (n.*46A>C)
n.9230A>C
c.9267A>C (p.Ala3089=)
c.8172A>C (p.Ala2724=)
c.4356A>C (p.Ala1452=)
c.3909A>C (p.Ala1303=)
c.3246A>C (p.Ala1082=)
c.7761A>C (p.Ala2587=)
n.9153A>C
n.9148A>C
 ClinVar
5g.13776654G>ACA359209482DNAH5c.9158C>T (p.Ala3053Val)
c.9113C>T (p.Ala3038Val)
c.*45C>T (n.*45C>T)
n.9229C>T
c.9266C>T (p.Ala3089Val)
c.8171C>T (p.Ala2724Val)
c.4355C>T (p.Ala1452Val)
c.3908C>T (p.Ala1303Val)
c.3245C>T (p.Ala1082Val)
c.7760C>T (p.Ala2587Val)
n.9152C>T
n.9147C>T
5g.13776654G>CCA359209484DNAH5c.9158C>G (p.Ala3053Gly)
c.9113C>G (p.Ala3038Gly)
c.*45C>G (n.*45C>G)
n.9229C>G
c.9266C>G (p.Ala3089Gly)
c.8171C>G (p.Ala2724Gly)
c.4355C>G (p.Ala1452Gly)
c.3908C>G (p.Ala1303Gly)
c.3245C>G (p.Ala1082Gly)
c.7760C>G (p.Ala2587Gly)
n.9152C>G
n.9147C>G
5g.13776654G>TCA359209490DNAH5c.9158C>A (p.Ala3053Glu)
c.9113C>A (p.Ala3038Glu)
c.*45C>A (n.*45C>A)
n.9229C>A
c.9266C>A (p.Ala3089Glu)
c.8171C>A (p.Ala2724Glu)
c.4355C>A (p.Ala1452Glu)
c.3908C>A (p.Ala1303Glu)
c.3245C>A (p.Ala1082Glu)
c.7760C>A (p.Ala2587Glu)
n.9152C>A
n.9147C>A
5g.13776655C>ACA359209492DNAH5c.9157G>T (p.Ala3053Ser)
c.9112G>T (p.Ala3038Ser)
c.*44G>T (n.*44G>T)
n.9228G>T
c.9265G>T (p.Ala3089Ser)
c.8170G>T (p.Ala2724Ser)
c.4354G>T (p.Ala1452Ser)
c.3907G>T (p.Ala1303Ser)
c.3244G>T (p.Ala1082Ser)
c.7759G>T (p.Ala2587Ser)
n.9151G>T
n.9146G>T
 dbSNP gnomAD v2 gnomAD v4
5g.13776655C=CA1528435342DNAH5c.9157G= (p.Ala3053=)
c.9112G= (p.Ala3038=)
c.*44G= (n.*44G=)
n.9228G=
c.9265G= (p.Ala3089=)
c.8170G= (p.Ala2724=)
c.4354G= (p.Ala1452=)
c.3907G= (p.Ala1303=)
c.3244G= (p.Ala1082=)
c.7759G= (p.Ala2587=)
n.9151G=
n.9146G=
5g.13776655C>GCA359209493DNAH5c.9157G>C (p.Ala3053Pro)
c.9112G>C (p.Ala3038Pro)
c.*44G>C (n.*44G>C)
n.9228G>C
c.9265G>C (p.Ala3089Pro)
c.8170G>C (p.Ala2724Pro)
c.4354G>C (p.Ala1452Pro)
c.3907G>C (p.Ala1303Pro)
c.3244G>C (p.Ala1082Pro)
c.7759G>C (p.Ala2587Pro)
n.9151G>C
n.9146G>C
5g.13776655C>TCA359209495DNAH5c.9157G>A (p.Ala3053Thr)
c.9112G>A (p.Ala3038Thr)
c.*44G>A (n.*44G>A)
n.9228G>A
c.9265G>A (p.Ala3089Thr)
c.8170G>A (p.Ala2724Thr)
c.4354G>A (p.Ala1452Thr)
c.3907G>A (p.Ala1303Thr)
c.3244G>A (p.Ala1082Thr)
c.7759G>A (p.Ala2587Thr)
n.9151G>A
n.9146G>A
 ClinVar
5g.13776656C>ACA443535744DNAH5c.9156G>T (p.Leu3052=)
c.9111G>T (p.Leu3037=)
c.*43G>T (n.*43G>T)
n.9227G>T
c.9264G>T (p.Leu3088=)
c.8169G>T (p.Leu2723=)
c.4353G>T (p.Leu1451=)
c.3906G>T (p.Leu1302=)
c.3243G>T (p.Leu1081=)
c.7758G>T (p.Leu2586=)
n.9150G>T
n.9145G>T
5g.13776656C=CA1528435344DNAH5c.9156G= (p.Leu3052=)
c.9111G= (p.Leu3037=)
c.*43G= (n.*43G=)
n.9227G=
c.9264G= (p.Leu3088=)
c.8169G= (p.Leu2723=)
c.4353G= (p.Leu1451=)
c.3906G= (p.Leu1302=)
c.3243G= (p.Leu1081=)
c.7758G= (p.Leu2586=)
n.9150G=
n.9145G=
5g.13776656C>GCA443535745DNAH5c.9156G>C (p.Leu3052=)
c.9111G>C (p.Leu3037=)
c.*43G>C (n.*43G>C)
n.9227G>C
c.9264G>C (p.Leu3088=)
c.8169G>C (p.Leu2723=)
c.4353G>C (p.Leu1451=)
c.3906G>C (p.Leu1302=)
c.3243G>C (p.Leu1081=)
c.7758G>C (p.Leu2586=)
n.9150G>C
n.9145G>C
5g.13776656C>TCA443535746DNAH5c.9156G>A (p.Leu3052=)
c.9111G>A (p.Leu3037=)
c.*43G>A (n.*43G>A)
n.9227G>A
c.9264G>A (p.Leu3088=)
c.8169G>A (p.Leu2723=)
c.4353G>A (p.Leu1451=)
c.3906G>A (p.Leu1302=)
c.3243G>A (p.Leu1081=)
c.7758G>A (p.Leu2586=)
n.9150G>A
n.9145G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13776657A>CCA359209503DNAH5c.9155T>G (p.Leu3052Arg)
c.9110T>G (p.Leu3037Arg)
c.*42T>G (n.*42T>G)
n.9226T>G
c.9263T>G (p.Leu3088Arg)
c.8168T>G (p.Leu2723Arg)
c.4352T>G (p.Leu1451Arg)
c.3905T>G (p.Leu1302Arg)
c.3242T>G (p.Leu1081Arg)
c.7757T>G (p.Leu2586Arg)
n.9149T>G
n.9144T>G
5g.13776657A>GCA359209505DNAH5c.9155T>C (p.Leu3052Pro)
c.9110T>C (p.Leu3037Pro)
c.*42T>C (n.*42T>C)
n.9226T>C
c.9263T>C (p.Leu3088Pro)
c.8168T>C (p.Leu2723Pro)
c.4352T>C (p.Leu1451Pro)
c.3905T>C (p.Leu1302Pro)
c.3242T>C (p.Leu1081Pro)
c.7757T>C (p.Leu2586Pro)
n.9149T>C
n.9144T>C
5g.13776657A>TCA359209501DNAH5c.9155T>A (p.Leu3052Gln)
c.9110T>A (p.Leu3037Gln)
c.*42T>A (n.*42T>A)
n.9226T>A
c.9263T>A (p.Leu3088Gln)
c.8168T>A (p.Leu2723Gln)
c.4352T>A (p.Leu1451Gln)
c.3905T>A (p.Leu1302Gln)
c.3242T>A (p.Leu1081Gln)
c.7757T>A (p.Leu2586Gln)
n.9149T>A
n.9144T>A
5g.13776658G>ACA443535750DNAH5c.9154C>T (p.Leu3052=)
c.9109C>T (p.Leu3037=)
c.*41C>T (n.*41C>T)
n.9225C>T
c.9262C>T (p.Leu3088=)
c.8167C>T (p.Leu2723=)
c.4351C>T (p.Leu1451=)
c.3904C>T (p.Leu1302=)
c.3241C>T (p.Leu1081=)
c.7756C>T (p.Leu2586=)
n.9148C>T
n.9143C>T
 dbSNP COSMIC
5g.13776658G>CCA359209510DNAH5c.9154C>G (p.Leu3052Val)
c.9109C>G (p.Leu3037Val)
c.*41C>G (n.*41C>G)
n.9225C>G
c.9262C>G (p.Leu3088Val)
c.8167C>G (p.Leu2723Val)
c.4351C>G (p.Leu1451Val)
c.3904C>G (p.Leu1302Val)
c.3241C>G (p.Leu1081Val)
c.7756C>G (p.Leu2586Val)
n.9148C>G
n.9143C>G
5g.13776658G=CA1528435347DNAH5c.9154C= (p.Leu3052=)
c.9109C= (p.Leu3037=)
c.*41C= (n.*41C=)
n.9225C=
c.9262C= (p.Leu3088=)
c.8167C= (p.Leu2723=)
c.4351C= (p.Leu1451=)
c.3904C= (p.Leu1302=)
c.3241C= (p.Leu1081=)
c.7756C= (p.Leu2586=)
n.9148C=
n.9143C=
5g.13776658G>TCA359209511DNAH5c.9154C>A (p.Leu3052Met)
c.9109C>A (p.Leu3037Met)
c.*41C>A (n.*41C>A)
n.9225C>A
c.9262C>A (p.Leu3088Met)
c.8167C>A (p.Leu2723Met)
c.4351C>A (p.Leu1451Met)
c.3904C>A (p.Leu1302Met)
c.3241C>A (p.Leu1081Met)
c.7756C>A (p.Leu2586Met)
n.9148C>A
n.9143C>A
5g.13776659G>ACA443535751DNAH5c.9153C>T (p.Asp3051=)
c.9108C>T (p.Asp3036=)
c.*40C>T (n.*40C>T)
n.9224C>T
c.9261C>T (p.Asp3087=)
c.8166C>T (p.Asp2722=)
c.4350C>T (p.Asp1450=)
c.3903C>T (p.Asp1301=)
c.3240C>T (p.Asp1080=)
c.7755C>T (p.Asp2585=)
n.9147C>T
n.9142C>T
5g.13776659G>CCA3202600DNAH5c.9153C>G (p.Asp3051Glu)
c.9108C>G (p.Asp3036Glu)
c.*40C>G (n.*40C>G)
n.9224C>G
c.9261C>G (p.Asp3087Glu)
c.8166C>G (p.Asp2722Glu)
c.4350C>G (p.Asp1450Glu)
c.3903C>G (p.Asp1301Glu)
c.3240C>G (p.Asp1080Glu)
c.7755C>G (p.Asp2585Glu)
n.9147C>G
n.9142C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13776659G=CA1528435349DNAH5c.9153C= (p.Asp3051=)
c.9108C= (p.Asp3036=)
c.*40C= (n.*40C=)
n.9224C=
c.9261C= (p.Asp3087=)
c.8166C= (p.Asp2722=)
c.4350C= (p.Asp1450=)
c.3903C= (p.Asp1301=)
c.3240C= (p.Asp1080=)
c.7755C= (p.Asp2585=)
n.9147C=
n.9142C=
5g.13776659G>TCA3202599DNAH5c.9153C>A (p.Asp3051Glu)
c.9108C>A (p.Asp3036Glu)
c.*40C>A (n.*40C>A)
n.9224C>A
c.9261C>A (p.Asp3087Glu)
c.8166C>A (p.Asp2722Glu)
c.4350C>A (p.Asp1450Glu)
c.3903C>A (p.Asp1301Glu)
c.3240C>A (p.Asp1080Glu)
c.7755C>A (p.Asp2585Glu)
n.9147C>A
n.9142C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13776660T>ACA359209517DNAH5c.9152A>T (p.Asp3051Val)
c.9107A>T (p.Asp3036Val)
c.*39A>T (n.*39A>T)
n.9223A>T
c.9260A>T (p.Asp3087Val)
c.8165A>T (p.Asp2722Val)
c.4349A>T (p.Asp1450Val)
c.3902A>T (p.Asp1301Val)
c.3239A>T (p.Asp1080Val)
c.7754A>T (p.Asp2585Val)
n.9146A>T
n.9141A>T
 gnomAD v4
5g.13776660T>CCA359209516DNAH5c.9152A>G (p.Asp3051Gly)
c.9107A>G (p.Asp3036Gly)
c.*39A>G (n.*39A>G)
n.9223A>G
c.9260A>G (p.Asp3087Gly)
c.8165A>G (p.Asp2722Gly)
c.4349A>G (p.Asp1450Gly)
c.3902A>G (p.Asp1301Gly)
c.3239A>G (p.Asp1080Gly)
c.7754A>G (p.Asp2585Gly)
n.9146A>G
n.9141A>G
5g.13776660T>GCA359209514DNAH5c.9152A>C (p.Asp3051Ala)
c.9107A>C (p.Asp3036Ala)
c.*39A>C (n.*39A>C)
n.9223A>C
c.9260A>C (p.Asp3087Ala)
c.8165A>C (p.Asp2722Ala)
c.4349A>C (p.Asp1450Ala)
c.3902A>C (p.Asp1301Ala)
c.3239A>C (p.Asp1080Ala)
c.7754A>C (p.Asp2585Ala)
n.9146A>C
n.9141A>C
5g.13776661C>ACA359209522DNAH5c.9151G>T (p.Asp3051Tyr)
c.9106G>T (p.Asp3036Tyr)
c.*38G>T (n.*38G>T)
n.9222G>T
c.9259G>T (p.Asp3087Tyr)
c.8164G>T (p.Asp2722Tyr)
c.4348G>T (p.Asp1450Tyr)
c.3901G>T (p.Asp1301Tyr)
c.3238G>T (p.Asp1080Tyr)
c.7753G>T (p.Asp2585Tyr)
n.9145G>T
n.9140G>T
 gnomAD v4
5g.13776661C=CA1528435353DNAH5c.9151G= (p.Asp3051=)
c.9106G= (p.Asp3036=)
c.*38G= (n.*38G=)
n.9222G=
c.9259G= (p.Asp3087=)
c.8164G= (p.Asp2722=)
c.4348G= (p.Asp1450=)
c.3901G= (p.Asp1301=)
c.3238G= (p.Asp1080=)
c.7753G= (p.Asp2585=)
n.9145G=
n.9140G=
5g.13776661C>GCA359209525DNAH5c.9151G>C (p.Asp3051His)
c.9106G>C (p.Asp3036His)
c.*38G>C (n.*38G>C)
n.9222G>C
c.9259G>C (p.Asp3087His)
c.8164G>C (p.Asp2722His)
c.4348G>C (p.Asp1450His)
c.3901G>C (p.Asp1301His)
c.3238G>C (p.Asp1080His)
c.7753G>C (p.Asp2585His)
n.9145G>C
n.9140G>C
5g.13776661C>TCA359209528DNAH5c.9151G>A (p.Asp3051Asn)
c.9106G>A (p.Asp3036Asn)
c.*38G>A (n.*38G>A)
n.9222G>A
c.9259G>A (p.Asp3087Asn)
c.8164G>A (p.Asp2722Asn)
c.4348G>A (p.Asp1450Asn)
c.3901G>A (p.Asp1301Asn)
c.3238G>A (p.Asp1080Asn)
c.7753G>A (p.Asp2585Asn)
n.9145G>A
n.9140G>A
 ClinVar dbSNP gnomAD v4
5g.13776662G>ACA3202601DNAH5c.9150C>T (p.Ser3050=)
c.9105C>T (p.Ser3035=)
c.*37C>T (n.*37C>T)
n.9221C>T
c.9258C>T (p.Ser3086=)
c.8163C>T (p.Ser2721=)
c.4347C>T (p.Ser1449=)
c.3900C>T (p.Ser1300=)
c.3237C>T (p.Ser1079=)
c.7752C>T (p.Ser2584=)
n.9144C>T
n.9139C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13776662G>CCA359209533DNAH5c.9150C>G (p.Ser3050Arg)
c.9105C>G (p.Ser3035Arg)
c.*37C>G (n.*37C>G)
n.9221C>G
c.9258C>G (p.Ser3086Arg)
c.8163C>G (p.Ser2721Arg)
c.4347C>G (p.Ser1449Arg)
c.3900C>G (p.Ser1300Arg)
c.3237C>G (p.Ser1079Arg)
c.7752C>G (p.Ser2584Arg)
n.9144C>G
n.9139C>G
5g.13776662G=CA1528435358DNAH5c.9150C= (p.Ser3050=)
c.9105C= (p.Ser3035=)
c.*37C= (n.*37C=)
n.9221C=
c.9258C= (p.Ser3086=)
c.8163C= (p.Ser2721=)
c.4347C= (p.Ser1449=)
c.3900C= (p.Ser1300=)
c.3237C= (p.Ser1079=)
c.7752C= (p.Ser2584=)
n.9144C=
n.9139C=
5g.13776662G>TCA359209537DNAH5c.9150C>A (p.Ser3050Arg)
c.9105C>A (p.Ser3035Arg)
c.*37C>A (n.*37C>A)
n.9221C>A
c.9258C>A (p.Ser3086Arg)
c.8163C>A (p.Ser2721Arg)
c.4347C>A (p.Ser1449Arg)
c.3900C>A (p.Ser1300Arg)
c.3237C>A (p.Ser1079Arg)
c.7752C>A (p.Ser2584Arg)
n.9144C>A
n.9139C>A
 dbSNP gnomAD v2 gnomAD v4
5g.13776663C>ACA359209540DNAH5c.9149G>T (p.Ser3050Ile)
c.9104G>T (p.Ser3035Ile)
c.*36G>T (n.*36G>T)
n.9220G>T
c.9257G>T (p.Ser3086Ile)
c.8162G>T (p.Ser2721Ile)
c.4346G>T (p.Ser1449Ile)
c.3899G>T (p.Ser1300Ile)
c.3236G>T (p.Ser1079Ile)
c.7751G>T (p.Ser2584Ile)
n.9143G>T
n.9138G>T
5g.13776663C>GCA359209549DNAH5c.9149G>C (p.Ser3050Thr)
c.9104G>C (p.Ser3035Thr)
c.*36G>C (n.*36G>C)
n.9220G>C
c.9257G>C (p.Ser3086Thr)
c.8162G>C (p.Ser2721Thr)
c.4346G>C (p.Ser1449Thr)
c.3899G>C (p.Ser1300Thr)
c.3236G>C (p.Ser1079Thr)
c.7751G>C (p.Ser2584Thr)
n.9143G>C
n.9138G>C
5g.13776663C>TCA359209546DNAH5c.9149G>A (p.Ser3050Asn)
c.9104G>A (p.Ser3035Asn)
c.*36G>A (n.*36G>A)
n.9220G>A
c.9257G>A (p.Ser3086Asn)
c.8162G>A (p.Ser2721Asn)
c.4346G>A (p.Ser1449Asn)
c.3899G>A (p.Ser1300Asn)
c.3236G>A (p.Ser1079Asn)
c.7751G>A (p.Ser2584Asn)
n.9143G>A
n.9138G>A
5g.13776664T>ACA359209559DNAH5c.9148A>T (p.Ser3050Cys)
c.9103A>T (p.Ser3035Cys)
c.*35A>T (n.*35A>T)
n.9219A>T
c.9256A>T (p.Ser3086Cys)
c.8161A>T (p.Ser2721Cys)
c.4345A>T (p.Ser1449Cys)
c.3898A>T (p.Ser1300Cys)
c.3235A>T (p.Ser1079Cys)
c.7750A>T (p.Ser2584Cys)
n.9142A>T
n.9137A>T
5g.13776664T>CCA359209563DNAH5c.9148A>G (p.Ser3050Gly)
c.9103A>G (p.Ser3035Gly)
c.*35A>G (n.*35A>G)
n.9219A>G
c.9256A>G (p.Ser3086Gly)
c.8161A>G (p.Ser2721Gly)
c.4345A>G (p.Ser1449Gly)
c.3898A>G (p.Ser1300Gly)
c.3235A>G (p.Ser1079Gly)
c.7750A>G (p.Ser2584Gly)
n.9142A>G
n.9137A>G
5g.13776664T>GCA359209561DNAH5c.9148A>C (p.Ser3050Arg)
c.9103A>C (p.Ser3035Arg)
c.*35A>C (n.*35A>C)
n.9219A>C
c.9256A>C (p.Ser3086Arg)
c.8161A>C (p.Ser2721Arg)
c.4345A>C (p.Ser1449Arg)
c.3898A>C (p.Ser1300Arg)
c.3235A>C (p.Ser1079Arg)
c.7750A>C (p.Ser2584Arg)
n.9142A>C
n.9137A>C
5g.13776665A=CA1528435367DNAH5c.9147T= (p.Asn3049=)
c.9102T= (p.Asn3034=)
c.*34T= (n.*34T=)
n.9218T=
c.9255T= (p.Asn3085=)
c.8160T= (p.Asn2720=)
c.4344T= (p.Asn1448=)
c.3897T= (p.Asn1299=)
c.3234T= (p.Asn1078=)
c.7749T= (p.Asn2583=)
n.9141T=
n.9136T=
5g.13776665A>CCA359209568DNAH5c.9147T>G (p.Asn3049Lys)
c.9102T>G (p.Asn3034Lys)
c.*34T>G (n.*34T>G)
n.9218T>G
c.9255T>G (p.Asn3085Lys)
c.8160T>G (p.Asn2720Lys)
c.4344T>G (p.Asn1448Lys)
c.3897T>G (p.Asn1299Lys)
c.3234T>G (p.Asn1078Lys)
c.7749T>G (p.Asn2583Lys)
n.9141T>G
n.9136T>G
5g.13776665A>GCA10586903DNAH5c.9147T>C (p.Asn3049=)
c.9102T>C (p.Asn3034=)
c.*34T>C (n.*34T>C)
n.9218T>C
c.9255T>C (p.Asn3085=)
c.8160T>C (p.Asn2720=)
c.4344T>C (p.Asn1448=)
c.3897T>C (p.Asn1299=)
c.3234T>C (p.Asn1078=)
c.7749T>C (p.Asn2583=)
n.9141T>C
n.9136T>C
 ClinVar dbSNP
5g.13776665A>TCA359209578DNAH5c.9147T>A (p.Asn3049Lys)
c.9102T>A (p.Asn3034Lys)
c.*34T>A (n.*34T>A)
n.9218T>A
c.9255T>A (p.Asn3085Lys)
c.8160T>A (p.Asn2720Lys)
c.4344T>A (p.Asn1448Lys)
c.3897T>A (p.Asn1299Lys)
c.3234T>A (p.Asn1078Lys)
c.7749T>A (p.Asn2583Lys)
n.9141T>A
n.9136T>A
5g.13776666T>ACA113937766DNAH5c.9146A>T (p.Asn3049Ile)
c.9101A>T (p.Asn3034Ile)
c.*33A>T (n.*33A>T)
n.9217A>T
c.9254A>T (p.Asn3085Ile)
c.8159A>T (p.Asn2720Ile)
c.4343A>T (p.Asn1448Ile)
c.3896A>T (p.Asn1299Ile)
c.3233A>T (p.Asn1078Ile)
c.7748A>T (p.Asn2583Ile)
n.9140A>T
n.9135A>T
 dbSNP COSMIC
5g.13776666T>CCA359209585DNAH5c.9146A>G (p.Asn3049Ser)
c.9101A>G (p.Asn3034Ser)
c.*33A>G (n.*33A>G)
n.9217A>G
c.9254A>G (p.Asn3085Ser)
c.8159A>G (p.Asn2720Ser)
c.4343A>G (p.Asn1448Ser)
c.3896A>G (p.Asn1299Ser)
c.3233A>G (p.Asn1078Ser)
c.7748A>G (p.Asn2583Ser)
n.9140A>G
n.9135A>G
5g.13776666T>GCA359209590DNAH5c.9146A>C (p.Asn3049Thr)
c.9101A>C (p.Asn3034Thr)
c.*33A>C (n.*33A>C)
n.9217A>C
c.9254A>C (p.Asn3085Thr)
c.8159A>C (p.Asn2720Thr)
c.4343A>C (p.Asn1448Thr)
c.3896A>C (p.Asn1299Thr)
c.3233A>C (p.Asn1078Thr)
c.7748A>C (p.Asn2583Thr)
n.9140A>C
n.9135A>C
5g.13776666T=CA1528435374DNAH5c.9146A= (p.Asn3049=)
c.9101A= (p.Asn3034=)
c.*33A= (n.*33A=)
n.9217A=
c.9254A= (p.Asn3085=)
c.8159A= (p.Asn2720=)
c.4343A= (p.Asn1448=)
c.3896A= (p.Asn1299=)
c.3233A= (p.Asn1078=)
c.7748A= (p.Asn2583=)
n.9140A=
n.9135A=
5g.13776667T>ACA359209595DNAH5c.9145A>T (p.Asn3049Tyr)
c.9100A>T (p.Asn3034Tyr)
c.*32A>T (n.*32A>T)
n.9216A>T
c.9253A>T (p.Asn3085Tyr)
c.8158A>T (p.Asn2720Tyr)
c.4342A>T (p.Asn1448Tyr)
c.3895A>T (p.Asn1299Tyr)
c.3232A>T (p.Asn1078Tyr)
c.7747A>T (p.Asn2583Tyr)
n.9139A>T
n.9134A>T
5g.13776667T>CCA359209598DNAH5c.9145A>G (p.Asn3049Asp)
c.9100A>G (p.Asn3034Asp)
c.*32A>G (n.*32A>G)
n.9216A>G
c.9253A>G (p.Asn3085Asp)
c.8158A>G (p.Asn2720Asp)
c.4342A>G (p.Asn1448Asp)
c.3895A>G (p.Asn1299Asp)
c.3232A>G (p.Asn1078Asp)
c.7747A>G (p.Asn2583Asp)
n.9139A>G
n.9134A>G
5g.13776667T>GCA359209600DNAH5c.9145A>C (p.Asn3049His)
c.9100A>C (p.Asn3034His)
c.*32A>C (n.*32A>C)
n.9216A>C
c.9253A>C (p.Asn3085His)
c.8158A>C (p.Asn2720His)
c.4342A>C (p.Asn1448His)
c.3895A>C (p.Asn1299His)
c.3232A>C (p.Asn1078His)
c.7747A>C (p.Asn2583His)
n.9139A>C
n.9134A>C
5g.13776668A>CCA359209602DNAH5c.9144T>G (p.Ile3048Met)
c.9099T>G (p.Ile3033Met)
c.*31T>G (n.*31T>G)
n.9215T>G
c.9252T>G (p.Ile3084Met)
c.8157T>G (p.Ile2719Met)
c.4341T>G (p.Ile1447Met)
c.3894T>G (p.Ile1298Met)
c.3231T>G (p.Ile1077Met)
c.7746T>G (p.Ile2582Met)
n.9138T>G
n.9133T>G
5g.13776668A>GCA443535770DNAH5c.9144T>C (p.Ile3048=)
c.9099T>C (p.Ile3033=)
c.*31T>C (n.*31T>C)
n.9215T>C
c.9252T>C (p.Ile3084=)
c.8157T>C (p.Ile2719=)
c.4341T>C (p.Ile1447=)
c.3894T>C (p.Ile1298=)
c.3231T>C (p.Ile1077=)
c.7746T>C (p.Ile2582=)
n.9138T>C
n.9133T>C
5g.13776668A>TCA443535771DNAH5c.9144T>A (p.Ile3048=)
c.9099T>A (p.Ile3033=)
c.*31T>A (n.*31T>A)
n.9215T>A
c.9252T>A (p.Ile3084=)
c.8157T>A (p.Ile2719=)
c.4341T>A (p.Ile1447=)
c.3894T>A (p.Ile1298=)
c.3231T>A (p.Ile1077=)
c.7746T>A (p.Ile2582=)
n.9138T>A
n.9133T>A
5g.13776677_13776685delCA2673268735DNAH5c.9136_9144del (p.Asp3046_Ile3048del)
c.9091_9099del (p.Asp3031_Ile3033del)
c.*23_*31del (n.*23_*31del)
n.9207_9215del
c.9244_9252del (p.Asp3082_Ile3084del)
c.8149_8157del (p.Asp2717_Ile2719del)
c.4333_4341del (p.Asp1445_Ile1447del)
c.3886_3894del (p.Asp1296_Ile1298del)
c.3223_3231del (p.Asp1075_Ile1077del)
c.7738_7746del (p.Asp2580_Ile2582del)
n.9130_9138del
n.9125_9133del
 gnomAD v4
5g.13776669A>CCA359209604DNAH5c.9143T>G (p.Ile3048Ser)
c.9098T>G (p.Ile3033Ser)
c.*30T>G (n.*30T>G)
n.9214T>G
c.9251T>G (p.Ile3084Ser)
c.8156T>G (p.Ile2719Ser)
c.4340T>G (p.Ile1447Ser)
c.3893T>G (p.Ile1298Ser)
c.3230T>G (p.Ile1077Ser)
c.7745T>G (p.Ile2582Ser)
n.9137T>G
n.9132T>G
5g.13776669A>GCA359209606DNAH5c.9143T>C (p.Ile3048Thr)
c.9098T>C (p.Ile3033Thr)
c.*30T>C (n.*30T>C)
n.9214T>C
c.9251T>C (p.Ile3084Thr)
c.8156T>C (p.Ile2719Thr)
c.4340T>C (p.Ile1447Thr)
c.3893T>C (p.Ile1298Thr)
c.3230T>C (p.Ile1077Thr)
c.7745T>C (p.Ile2582Thr)
n.9137T>C
n.9132T>C
5g.13776669A>TCA359209611DNAH5c.9143T>A (p.Ile3048Asn)
c.9098T>A (p.Ile3033Asn)
c.*30T>A (n.*30T>A)
n.9214T>A
c.9251T>A (p.Ile3084Asn)
c.8156T>A (p.Ile2719Asn)
c.4340T>A (p.Ile1447Asn)
c.3893T>A (p.Ile1298Asn)
c.3230T>A (p.Ile1077Asn)
c.7745T>A (p.Ile2582Asn)
n.9137T>A
n.9132T>A
5g.13776670T>ACA359209625DNAH5c.9142A>T (p.Ile3048Phe)
c.9097A>T (p.Ile3033Phe)
c.*29A>T (n.*29A>T)
n.9213A>T
c.9250A>T (p.Ile3084Phe)
c.8155A>T (p.Ile2719Phe)
c.4339A>T (p.Ile1447Phe)
c.3892A>T (p.Ile1298Phe)
c.3229A>T (p.Ile1077Phe)
c.7744A>T (p.Ile2582Phe)
n.9136A>T
n.9131A>T
5g.13776670T>CCA359209632DNAH5c.9142A>G (p.Ile3048Val)
c.9097A>G (p.Ile3033Val)
c.*29A>G (n.*29A>G)
n.9213A>G
c.9250A>G (p.Ile3084Val)
c.8155A>G (p.Ile2719Val)
c.4339A>G (p.Ile1447Val)
c.3892A>G (p.Ile1298Val)
c.3229A>G (p.Ile1077Val)
c.7744A>G (p.Ile2582Val)
n.9136A>G
n.9131A>G
5g.13776670T>GCA359209629DNAH5c.9142A>C (p.Ile3048Leu)
c.9097A>C (p.Ile3033Leu)
c.*29A>C (n.*29A>C)
n.9213A>C
c.9250A>C (p.Ile3084Leu)
c.8155A>C (p.Ile2719Leu)
c.4339A>C (p.Ile1447Leu)
c.3892A>C (p.Ile1298Leu)
c.3229A>C (p.Ile1077Leu)
c.7744A>C (p.Ile2582Leu)
n.9136A>C
n.9131A>C
5g.13776671T>ACA359209642DNAH5c.9141A>T (p.Glu3047Asp)
c.9096A>T (p.Glu3032Asp)
c.*28A>T (n.*28A>T)
n.9212A>T
c.9249A>T (p.Glu3083Asp)
c.8154A>T (p.Glu2718Asp)
c.4338A>T (p.Glu1446Asp)
c.3891A>T (p.Glu1297Asp)
c.3228A>T (p.Glu1076Asp)
c.7743A>T (p.Glu2581Asp)
n.9135A>T
n.9130A>T
5g.13776671T>CCA443535773DNAH5c.9141A>G (p.Glu3047=)
c.9096A>G (p.Glu3032=)
c.*28A>G (n.*28A>G)
n.9212A>G
c.9249A>G (p.Glu3083=)
c.8154A>G (p.Glu2718=)
c.4338A>G (p.Glu1446=)
c.3891A>G (p.Glu1297=)
c.3228A>G (p.Glu1076=)
c.7743A>G (p.Glu2581=)
n.9135A>G
n.9130A>G
5g.13776671T>GCA359209646DNAH5c.9141A>C (p.Glu3047Asp)
c.9096A>C (p.Glu3032Asp)
c.*28A>C (n.*28A>C)
n.9212A>C
c.9249A>C (p.Glu3083Asp)
c.8154A>C (p.Glu2718Asp)
c.4338A>C (p.Glu1446Asp)
c.3891A>C (p.Glu1297Asp)
c.3228A>C (p.Glu1076Asp)
c.7743A>C (p.Glu2581Asp)
n.9135A>C
n.9130A>C
5g.13776672T>ACA359209650DNAH5c.9140A>T (p.Glu3047Val)
c.9095A>T (p.Glu3032Val)
c.*27A>T (n.*27A>T)
n.9211A>T
c.9248A>T (p.Glu3083Val)
c.8153A>T (p.Glu2718Val)
c.4337A>T (p.Glu1446Val)
c.3890A>T (p.Glu1297Val)
c.3227A>T (p.Glu1076Val)
c.7742A>T (p.Glu2581Val)
n.9134A>T
n.9129A>T
5g.13776672T>CCA359209657DNAH5c.9140A>G (p.Glu3047Gly)
c.9095A>G (p.Glu3032Gly)
c.*27A>G (n.*27A>G)
n.9211A>G
c.9248A>G (p.Glu3083Gly)
c.8153A>G (p.Glu2718Gly)
c.4337A>G (p.Glu1446Gly)
c.3890A>G (p.Glu1297Gly)
c.3227A>G (p.Glu1076Gly)
c.7742A>G (p.Glu2581Gly)
n.9134A>G
n.9129A>G
5g.13776672T>GCA359209659DNAH5c.9140A>C (p.Glu3047Ala)
c.9095A>C (p.Glu3032Ala)
c.*27A>C (n.*27A>C)
n.9211A>C
c.9248A>C (p.Glu3083Ala)
c.8153A>C (p.Glu2718Ala)
c.4337A>C (p.Glu1446Ala)
c.3890A>C (p.Glu1297Ala)
c.3227A>C (p.Glu1076Ala)
c.7742A>C (p.Glu2581Ala)
n.9134A>C
n.9129A>C
 gnomAD v4
5g.13776673C>ACA359209662DNAH5c.9139G>T (p.Glu3047Ter)
c.9094G>T (p.Glu3032Ter)
c.*26G>T (n.*26G>T)
n.9210G>T
c.9247G>T (p.Glu3083Ter)
c.8152G>T (p.Glu2718Ter)
c.4336G>T (p.Glu1446Ter)
c.3889G>T (p.Glu1297Ter)
c.3226G>T (p.Glu1076Ter)
c.7741G>T (p.Glu2581Ter)
n.9133G>T
n.9128G>T
 ClinVar
5g.13776673C>GCA359209663DNAH5c.9139G>C (p.Glu3047Gln)
c.9094G>C (p.Glu3032Gln)
c.*26G>C (n.*26G>C)
n.9210G>C
c.9247G>C (p.Glu3083Gln)
c.8152G>C (p.Glu2718Gln)
c.4336G>C (p.Glu1446Gln)
c.3889G>C (p.Glu1297Gln)
c.3226G>C (p.Glu1076Gln)
c.7741G>C (p.Glu2581Gln)
n.9133G>C
n.9128G>C
5g.13776673C>TCA359209667DNAH5c.9139G>A (p.Glu3047Lys)
c.9094G>A (p.Glu3032Lys)
c.*26G>A (n.*26G>A)
n.9210G>A
c.9247G>A (p.Glu3083Lys)
c.8152G>A (p.Glu2718Lys)
c.4336G>A (p.Glu1446Lys)
c.3889G>A (p.Glu1297Lys)
c.3226G>A (p.Glu1076Lys)
c.7741G>A (p.Glu2581Lys)
n.9133G>A
n.9128G>A
 COSMIC
5g.13776674A>CCA359209669DNAH5c.9138T>G (p.Asp3046Glu)
c.9093T>G (p.Asp3031Glu)
c.*25T>G (n.*25T>G)
n.9209T>G
c.9246T>G (p.Asp3082Glu)
c.8151T>G (p.Asp2717Glu)
c.4335T>G (p.Asp1445Glu)
c.3888T>G (p.Asp1296Glu)
c.3225T>G (p.Asp1075Glu)
c.7740T>G (p.Asp2580Glu)
n.9132T>G
n.9127T>G
 gnomAD v4
5g.13776674A>GCA443535781DNAH5c.9138T>C (p.Asp3046=)
c.9093T>C (p.Asp3031=)
c.*25T>C (n.*25T>C)
n.9209T>C
c.9246T>C (p.Asp3082=)
c.8151T>C (p.Asp2717=)
c.4335T>C (p.Asp1445=)
c.3888T>C (p.Asp1296=)
c.3225T>C (p.Asp1075=)
c.7740T>C (p.Asp2580=)
n.9132T>C
n.9127T>C
 COSMIC
5g.13776674A>TCA359209670DNAH5c.9138T>A (p.Asp3046Glu)
c.9093T>A (p.Asp3031Glu)
c.*25T>A (n.*25T>A)
n.9209T>A
c.9246T>A (p.Asp3082Glu)
c.8151T>A (p.Asp2717Glu)
c.4335T>A (p.Asp1445Glu)
c.3888T>A (p.Asp1296Glu)
c.3225T>A (p.Asp1075Glu)
c.7740T>A (p.Asp2580Glu)
n.9132T>A
n.9127T>A
5g.13776675T>ACA359209673DNAH5c.9137A>T (p.Asp3046Val)
c.9092A>T (p.Asp3031Val)
c.*24A>T (n.*24A>T)
n.9208A>T
c.9245A>T (p.Asp3082Val)
c.8150A>T (p.Asp2717Val)
c.4334A>T (p.Asp1445Val)
c.3887A>T (p.Asp1296Val)
c.3224A>T (p.Asp1075Val)
c.7739A>T (p.Asp2580Val)
n.9131A>T
n.9126A>T
5g.13776675T>CCA359209672DNAH5c.9137A>G (p.Asp3046Gly)
c.9092A>G (p.Asp3031Gly)
c.*24A>G (n.*24A>G)
n.9208A>G
c.9245A>G (p.Asp3082Gly)
c.8150A>G (p.Asp2717Gly)
c.4334A>G (p.Asp1445Gly)
c.3887A>G (p.Asp1296Gly)
c.3224A>G (p.Asp1075Gly)
c.7739A>G (p.Asp2580Gly)
n.9131A>G
n.9126A>G
 gnomAD v4
5g.13776675T>GCA359209671DNAH5c.9137A>C (p.Asp3046Ala)
c.9092A>C (p.Asp3031Ala)
c.*24A>C (n.*24A>C)
n.9208A>C
c.9245A>C (p.Asp3082Ala)
c.8150A>C (p.Asp2717Ala)
c.4334A>C (p.Asp1445Ala)
c.3887A>C (p.Asp1296Ala)
c.3224A>C (p.Asp1075Ala)
c.7739A>C (p.Asp2580Ala)
n.9131A>C
n.9126A>C
5g.13776676C>ACA359209677DNAH5c.9136G>T (p.Asp3046Tyr)
c.9091G>T (p.Asp3031Tyr)
c.*23G>T (n.*23G>T)
n.9207G>T
c.9244G>T (p.Asp3082Tyr)
c.8149G>T (p.Asp2717Tyr)
c.4333G>T (p.Asp1445Tyr)
c.3886G>T (p.Asp1296Tyr)
c.3223G>T (p.Asp1075Tyr)
c.7738G>T (p.Asp2580Tyr)
n.9130G>T
n.9125G>T
5g.13776676C>GCA359209679DNAH5c.9136G>C (p.Asp3046His)
c.9091G>C (p.Asp3031His)
c.*23G>C (n.*23G>C)
n.9207G>C
c.9244G>C (p.Asp3082His)
c.8149G>C (p.Asp2717His)
c.4333G>C (p.Asp1445His)
c.3886G>C (p.Asp1296His)
c.3223G>C (p.Asp1075His)
c.7738G>C (p.Asp2580His)
n.9130G>C
n.9125G>C
5g.13776676C>TCA359209682DNAH5c.9136G>A (p.Asp3046Asn)
c.9091G>A (p.Asp3031Asn)
c.*23G>A (n.*23G>A)
n.9207G>A
c.9244G>A (p.Asp3082Asn)
c.8149G>A (p.Asp2717Asn)
c.4333G>A (p.Asp1445Asn)
c.3886G>A (p.Asp1296Asn)
c.3223G>A (p.Asp1075Asn)
c.7738G>A (p.Asp2580Asn)
n.9130G>A
n.9125G>A
5g.13776677A>CCA359209685DNAH5c.9135T>G (p.Ile3045Met)
c.9090T>G (p.Ile3030Met)
c.*22T>G (n.*22T>G)
n.9206T>G
c.9243T>G (p.Ile3081Met)
c.8148T>G (p.Ile2716Met)
c.4332T>G (p.Ile1444Met)
c.3885T>G (p.Ile1295Met)
c.3222T>G (p.Ile1074Met)
c.7737T>G (p.Ile2579Met)
n.9129T>G
n.9124T>G
 gnomAD v4
5g.13776677A>GCA443535791DNAH5c.9135T>C (p.Ile3045=)
c.9090T>C (p.Ile3030=)
c.*22T>C (n.*22T>C)
n.9206T>C
c.9243T>C (p.Ile3081=)
c.8148T>C (p.Ile2716=)
c.4332T>C (p.Ile1444=)
c.3885T>C (p.Ile1295=)
c.3222T>C (p.Ile1074=)
c.7737T>C (p.Ile2579=)
n.9129T>C
n.9124T>C
5g.13776677A>TCA443535790DNAH5c.9135T>A (p.Ile3045=)
c.9090T>A (p.Ile3030=)
c.*22T>A (n.*22T>A)
n.9206T>A
c.9243T>A (p.Ile3081=)
c.8148T>A (p.Ile2716=)
c.4332T>A (p.Ile1444=)
c.3885T>A (p.Ile1295=)
c.3222T>A (p.Ile1074=)
c.7737T>A (p.Ile2579=)
n.9129T>A
n.9124T>A
5g.13776678A=CA1528435381DNAH5c.9134T= (p.Ile3045=)
c.9089T= (p.Ile3030=)
c.*21T= (n.*21T=)
n.9205T=
c.9242T= (p.Ile3081=)
c.8147T= (p.Ile2716=)
c.4331T= (p.Ile1444=)
c.3884T= (p.Ile1295=)
c.3221T= (p.Ile1074=)
c.7736T= (p.Ile2579=)
n.9128T=
n.9123T=
5g.13776678A>CCA359209689DNAH5c.9134T>G (p.Ile3045Ser)
c.9089T>G (p.Ile3030Ser)
c.*21T>G (n.*21T>G)
n.9205T>G
c.9242T>G (p.Ile3081Ser)
c.8147T>G (p.Ile2716Ser)
c.4331T>G (p.Ile1444Ser)
c.3884T>G (p.Ile1295Ser)
c.3221T>G (p.Ile1074Ser)
c.7736T>G (p.Ile2579Ser)
n.9128T>G
n.9123T>G
5g.13776678A>GCA359209692DNAH5c.9134T>C (p.Ile3045Thr)
c.9089T>C (p.Ile3030Thr)
c.*21T>C (n.*21T>C)
n.9205T>C
c.9242T>C (p.Ile3081Thr)
c.8147T>C (p.Ile2716Thr)
c.4331T>C (p.Ile1444Thr)
c.3884T>C (p.Ile1295Thr)
c.3221T>C (p.Ile1074Thr)
c.7736T>C (p.Ile2579Thr)
n.9128T>C
n.9123T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13776678A>TCA359209696DNAH5c.9134T>A (p.Ile3045Asn)
c.9089T>A (p.Ile3030Asn)
c.*21T>A (n.*21T>A)
n.9205T>A
c.9242T>A (p.Ile3081Asn)
c.8147T>A (p.Ile2716Asn)
c.4331T>A (p.Ile1444Asn)
c.3884T>A (p.Ile1295Asn)
c.3221T>A (p.Ile1074Asn)
c.7736T>A (p.Ile2579Asn)
n.9128T>A
n.9123T>A
5g.13776679T>ACA359209699DNAH5c.9133A>T (p.Ile3045Phe)
c.9088A>T (p.Ile3030Phe)
c.*20A>T (n.*20A>T)
n.9204A>T
c.9241A>T (p.Ile3081Phe)
c.8146A>T (p.Ile2716Phe)
c.4330A>T (p.Ile1444Phe)
c.3883A>T (p.Ile1295Phe)
c.3220A>T (p.Ile1074Phe)
c.7735A>T (p.Ile2579Phe)
n.9127A>T
n.9122A>T
5g.13776679T>CCA359209708DNAH5c.9133A>G (p.Ile3045Val)
c.9088A>G (p.Ile3030Val)
c.*20A>G (n.*20A>G)
n.9204A>G
c.9241A>G (p.Ile3081Val)
c.8146A>G (p.Ile2716Val)
c.4330A>G (p.Ile1444Val)
c.3883A>G (p.Ile1295Val)
c.3220A>G (p.Ile1074Val)
c.7735A>G (p.Ile2579Val)
n.9127A>G
n.9122A>G
 dbSNP gnomAD v4
5g.13776679T>GCA359209710DNAH5c.9133A>C (p.Ile3045Leu)
c.9088A>C (p.Ile3030Leu)
c.*20A>C (n.*20A>C)
n.9204A>C
c.9241A>C (p.Ile3081Leu)
c.8146A>C (p.Ile2716Leu)
c.4330A>C (p.Ile1444Leu)
c.3883A>C (p.Ile1295Leu)
c.3220A>C (p.Ile1074Leu)
c.7735A>C (p.Ile2579Leu)
n.9127A>C
n.9122A>C
5g.13776679T=CA1528435384DNAH5c.9133A= (p.Ile3045=)
c.9088A= (p.Ile3030=)
c.*20A= (n.*20A=)
n.9204A=
c.9241A= (p.Ile3081=)
c.8146A= (p.Ile2716=)
c.4330A= (p.Ile1444=)
c.3883A= (p.Ile1295=)
c.3220A= (p.Ile1074=)
c.7735A= (p.Ile2579=)
n.9127A=
n.9122A=
5g.13776680T>ACA359209712DNAH5c.9132A>T (p.Glu3044Asp)
c.9087A>T (p.Glu3029Asp)
c.*19A>T (n.*19A>T)
n.9203A>T
c.9240A>T (p.Glu3080Asp)
c.8145A>T (p.Glu2715Asp)
c.4329A>T (p.Glu1443Asp)
c.3882A>T (p.Glu1294Asp)
c.3219A>T (p.Glu1073Asp)
c.7734A>T (p.Glu2578Asp)
n.9126A>T
n.9121A>T
5g.13776680T>CCA443535796DNAH5c.9132A>G (p.Glu3044=)
c.9087A>G (p.Glu3029=)
c.*19A>G (n.*19A>G)
n.9203A>G
c.9240A>G (p.Glu3080=)
c.8145A>G (p.Glu2715=)
c.4329A>G (p.Glu1443=)
c.3882A>G (p.Glu1294=)
c.3219A>G (p.Glu1073=)
c.7734A>G (p.Glu2578=)
n.9126A>G
n.9121A>G
5g.13776680T>GCA359209714DNAH5c.9132A>C (p.Glu3044Asp)
c.9087A>C (p.Glu3029Asp)
c.*19A>C (n.*19A>C)
n.9203A>C
c.9240A>C (p.Glu3080Asp)
c.8145A>C (p.Glu2715Asp)
c.4329A>C (p.Glu1443Asp)
c.3882A>C (p.Glu1294Asp)
c.3219A>C (p.Glu1073Asp)
c.7734A>C (p.Glu2578Asp)
n.9126A>C
n.9121A>C
5g.13776681T>ACA359209721DNAH5c.9131A>T (p.Glu3044Val)
c.9086A>T (p.Glu3029Val)
c.*18A>T (n.*18A>T)
n.9202A>T
c.9239A>T (p.Glu3080Val)
c.8144A>T (p.Glu2715Val)
c.4328A>T (p.Glu1443Val)
c.3881A>T (p.Glu1294Val)
c.3218A>T (p.Glu1073Val)
c.7733A>T (p.Glu2578Val)
n.9125A>T
n.9120A>T
5g.13776681T>CCA359209717DNAH5c.9131A>G (p.Glu3044Gly)
c.9086A>G (p.Glu3029Gly)
c.*18A>G (n.*18A>G)
n.9202A>G
c.9239A>G (p.Glu3080Gly)
c.8144A>G (p.Glu2715Gly)
c.4328A>G (p.Glu1443Gly)
c.3881A>G (p.Glu1294Gly)
c.3218A>G (p.Glu1073Gly)
c.7733A>G (p.Glu2578Gly)
n.9125A>G
n.9120A>G
5g.13776681T>GCA359209715DNAH5c.9131A>C (p.Glu3044Ala)
c.9086A>C (p.Glu3029Ala)
c.*18A>C (n.*18A>C)
n.9202A>C
c.9239A>C (p.Glu3080Ala)
c.8144A>C (p.Glu2715Ala)
c.4328A>C (p.Glu1443Ala)
c.3881A>C (p.Glu1294Ala)
c.3218A>C (p.Glu1073Ala)
c.7733A>C (p.Glu2578Ala)
n.9125A>C
n.9120A>C
5g.13776682C>ACA359209725DNAH5c.9130G>T (p.Glu3044Ter)
c.9085G>T (p.Glu3029Ter)
c.*17G>T (n.*17G>T)
n.9201G>T
c.9238G>T (p.Glu3080Ter)
c.8143G>T (p.Glu2715Ter)
c.4327G>T (p.Glu1443Ter)
c.3880G>T (p.Glu1294Ter)
c.3217G>T (p.Glu1073Ter)
c.7732G>T (p.Glu2578Ter)
n.9124G>T
n.9119G>T
5g.13776682C>GCA359209729DNAH5c.9130G>C (p.Glu3044Gln)
c.9085G>C (p.Glu3029Gln)
c.*17G>C (n.*17G>C)
n.9201G>C
c.9238G>C (p.Glu3080Gln)
c.8143G>C (p.Glu2715Gln)
c.4327G>C (p.Glu1443Gln)
c.3880G>C (p.Glu1294Gln)
c.3217G>C (p.Glu1073Gln)
c.7732G>C (p.Glu2578Gln)
n.9124G>C
n.9119G>C
5g.13776682C>TCA359209733DNAH5c.9130G>A (p.Glu3044Lys)
c.9085G>A (p.Glu3029Lys)
c.*17G>A (n.*17G>A)
n.9201G>A
c.9238G>A (p.Glu3080Lys)
c.8143G>A (p.Glu2715Lys)
c.4327G>A (p.Glu1443Lys)
c.3880G>A (p.Glu1294Lys)
c.3217G>A (p.Glu1073Lys)
c.7732G>A (p.Glu2578Lys)
n.9124G>A
n.9119G>A
 COSMIC
5g.13776683A=CA1528435389DNAH5c.9129T= (p.Asp3043=)
c.9084T= (p.Asp3028=)
c.*16T= (n.*16T=)
n.9200T=
c.9237T= (p.Asp3079=)
c.8142T= (p.Asp2714=)
c.4326T= (p.Asp1442=)
c.3879T= (p.Asp1293=)
c.3216T= (p.Asp1072=)
c.7731T= (p.Asp2577=)
n.9123T=
n.9118T=
5g.13776683A>CCA359209736DNAH5c.9129T>G (p.Asp3043Glu)
c.9084T>G (p.Asp3028Glu)
c.*16T>G (n.*16T>G)
n.9200T>G
c.9237T>G (p.Asp3079Glu)
c.8142T>G (p.Asp2714Glu)
c.4326T>G (p.Asp1442Glu)
c.3879T>G (p.Asp1293Glu)
c.3216T>G (p.Asp1072Glu)
c.7731T>G (p.Asp2577Glu)
n.9123T>G
n.9118T>G
 gnomAD v4
5g.13776683A>GCA3202602DNAH5c.9129T>C (p.Asp3043=)
c.9084T>C (p.Asp3028=)
c.*16T>C (n.*16T>C)
n.9200T>C
c.9237T>C (p.Asp3079=)
c.8142T>C (p.Asp2714=)
c.4326T>C (p.Asp1442=)
c.3879T>C (p.Asp1293=)
c.3216T>C (p.Asp1072=)
c.7731T>C (p.Asp2577=)
n.9123T>C
n.9118T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13776683A>TCA359209741DNAH5c.9129T>A (p.Asp3043Glu)
c.9084T>A (p.Asp3028Glu)
c.*16T>A (n.*16T>A)
n.9200T>A
c.9237T>A (p.Asp3079Glu)
c.8142T>A (p.Asp2714Glu)
c.4326T>A (p.Asp1442Glu)
c.3879T>A (p.Asp1293Glu)
c.3216T>A (p.Asp1072Glu)
c.7731T>A (p.Asp2577Glu)
n.9123T>A
n.9118T>A
5g.13776684T>ACA3202603DNAH5c.9128A>T (p.Asp3043Val)
c.9083A>T (p.Asp3028Val)
c.*15A>T (n.*15A>T)
n.9199A>T
c.9236A>T (p.Asp3079Val)
c.8141A>T (p.Asp2714Val)
c.4325A>T (p.Asp1442Val)
c.3878A>T (p.Asp1293Val)
c.3215A>T (p.Asp1072Val)
c.7730A>T (p.Asp2577Val)
n.9122A>T
n.9117A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13776684T>CCA359209746DNAH5c.9128A>G (p.Asp3043Gly)
c.9083A>G (p.Asp3028Gly)
c.*15A>G (n.*15A>G)
n.9199A>G
c.9236A>G (p.Asp3079Gly)
c.8141A>G (p.Asp2714Gly)
c.4325A>G (p.Asp1442Gly)
c.3878A>G (p.Asp1293Gly)
c.3215A>G (p.Asp1072Gly)
c.7730A>G (p.Asp2577Gly)
n.9122A>G
n.9117A>G
 dbSNP gnomAD v3 gnomAD v4
5g.13776684T>GCA359209754DNAH5c.9128A>C (p.Asp3043Ala)
c.9083A>C (p.Asp3028Ala)
c.*15A>C (n.*15A>C)
n.9199A>C
c.9236A>C (p.Asp3079Ala)
c.8141A>C (p.Asp2714Ala)
c.4325A>C (p.Asp1442Ala)
c.3878A>C (p.Asp1293Ala)
c.3215A>C (p.Asp1072Ala)
c.7730A>C (p.Asp2577Ala)
n.9122A>C
n.9117A>C
 gnomAD v4
5g.13776684T=CA1528435401DNAH5c.9128A= (p.Asp3043=)
c.9083A= (p.Asp3028=)
c.*15A= (n.*15A=)
n.9199A=
c.9236A= (p.Asp3079=)
c.8141A= (p.Asp2714=)
c.4325A= (p.Asp1442=)
c.3878A= (p.Asp1293=)
c.3215A= (p.Asp1072=)
c.7730A= (p.Asp2577=)
n.9122A=
n.9117A=
5g.13776685C>ACA359209755DNAH5c.9127G>T (p.Asp3043Tyr)
c.9082G>T (p.Asp3028Tyr)
c.*14G>T (n.*14G>T)
n.9198G>T
c.9235G>T (p.Asp3079Tyr)
c.8140G>T (p.Asp2714Tyr)
c.4324G>T (p.Asp1442Tyr)
c.3877G>T (p.Asp1293Tyr)
c.3214G>T (p.Asp1072Tyr)
c.7729G>T (p.Asp2577Tyr)
n.9121G>T
n.9116G>T
5g.13776685C>GCA359209756DNAH5c.9127G>C (p.Asp3043His)
c.9082G>C (p.Asp3028His)
c.*14G>C (n.*14G>C)
n.9198G>C
c.9235G>C (p.Asp3079His)
c.8140G>C (p.Asp2714His)
c.4324G>C (p.Asp1442His)
c.3877G>C (p.Asp1293His)
c.3214G>C (p.Asp1072His)
c.7729G>C (p.Asp2577His)
n.9121G>C
n.9116G>C
5g.13776685C>TCA359209757DNAH5c.9127G>A (p.Asp3043Asn)
c.9082G>A (p.Asp3028Asn)
c.*14G>A (n.*14G>A)
n.9198G>A
c.9235G>A (p.Asp3079Asn)
c.8140G>A (p.Asp2714Asn)
c.4324G>A (p.Asp1442Asn)
c.3877G>A (p.Asp1293Asn)
c.3214G>A (p.Asp1072Asn)
c.7729G>A (p.Asp2577Asn)
n.9121G>A
n.9116G>A
5g.13776686T>ACA443535811DNAH5c.9126A>T (p.Arg3042=)
c.9081A>T (p.Arg3027=)
c.*13A>T (n.*13A>T)
n.9197A>T
c.9234A>T (p.Arg3078=)
c.8139A>T (p.Arg2713=)
c.4323A>T (p.Arg1441=)
c.3876A>T (p.Arg1292=)
c.3213A>T (p.Arg1071=)
c.7728A>T (p.Arg2576=)
n.9120A>T
n.9115A>T
 gnomAD v4
5g.13776686T>CCA443535810DNAH5c.9126A>G (p.Arg3042=)
c.9081A>G (p.Arg3027=)
c.*13A>G (n.*13A>G)
n.9197A>G
c.9234A>G (p.Arg3078=)
c.8139A>G (p.Arg2713=)
c.4323A>G (p.Arg1441=)
c.3876A>G (p.Arg1292=)
c.3213A>G (p.Arg1071=)
c.7728A>G (p.Arg2576=)
n.9120A>G
n.9115A>G
5g.13776686T>GCA443535809DNAH5c.9126A>C (p.Arg3042=)
c.9081A>C (p.Arg3027=)
c.*13A>C (n.*13A>C)
n.9197A>C
c.9234A>C (p.Arg3078=)
c.8139A>C (p.Arg2713=)
c.4323A>C (p.Arg1441=)
c.3876A>C (p.Arg1292=)
c.3213A>C (p.Arg1071=)
c.7728A>C (p.Arg2576=)
n.9120A>C
n.9115A>C
5g.13776687C>ACA3202604DNAH5c.9125G>T (p.Arg3042Leu)
c.9080G>T (p.Arg3027Leu)
c.*12G>T (n.*12G>T)
n.9196G>T
c.9233G>T (p.Arg3078Leu)
c.8138G>T (p.Arg2713Leu)
c.4322G>T (p.Arg1441Leu)
c.3875G>T (p.Arg1292Leu)
c.3212G>T (p.Arg1071Leu)
c.7727G>T (p.Arg2576Leu)
n.9119G>T
n.9114G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13776687C=CA1528435408DNAH5c.9125G= (p.Arg3042=)
c.9080G= (p.Arg3027=)
c.*12G= (n.*12G=)
n.9196G=
c.9233G= (p.Arg3078=)
c.8138G= (p.Arg2713=)
c.4322G= (p.Arg1441=)
c.3875G= (p.Arg1292=)
c.3212G= (p.Arg1071=)
c.7727G= (p.Arg2576=)
n.9119G=
n.9114G=
5g.13776687C>GCA359209762DNAH5c.9125G>C (p.Arg3042Pro)
c.9080G>C (p.Arg3027Pro)
c.*12G>C (n.*12G>C)
n.9196G>C
c.9233G>C (p.Arg3078Pro)
c.8138G>C (p.Arg2713Pro)
c.4322G>C (p.Arg1441Pro)
c.3875G>C (p.Arg1292Pro)
c.3212G>C (p.Arg1071Pro)
c.7727G>C (p.Arg2576Pro)
n.9119G>C
n.9114G>C
5g.13776687C>TCA3202605DNAH5c.9125G>A (p.Arg3042Gln)
c.9080G>A (p.Arg3027Gln)
c.*12G>A (n.*12G>A)
n.9196G>A
c.9233G>A (p.Arg3078Gln)
c.8138G>A (p.Arg2713Gln)
c.4322G>A (p.Arg1441Gln)
c.3875G>A (p.Arg1292Gln)
c.3212G>A (p.Arg1071Gln)
c.7727G>A (p.Arg2576Gln)
n.9119G>A
n.9114G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13776688G>ACA3202606DNAH5c.9124C>T (p.Arg3042Ter)
c.9079C>T (p.Arg3027Ter)
c.*11C>T (n.*11C>T)
n.9195C>T
c.9232C>T (p.Arg3078Ter)
c.8137C>T (p.Arg2713Ter)
c.4321C>T (p.Arg1441Ter)
c.3874C>T (p.Arg1292Ter)
c.3211C>T (p.Arg1071Ter)
c.7726C>T (p.Arg2576Ter)
n.9118C>T
n.9113C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.13776688G>CCA3202607DNAH5c.9124C>G (p.Arg3042Gly)
c.9079C>G (p.Arg3027Gly)
c.*11C>G (n.*11C>G)
n.9195C>G
c.9232C>G (p.Arg3078Gly)
c.8137C>G (p.Arg2713Gly)
c.4321C>G (p.Arg1441Gly)
c.3874C>G (p.Arg1292Gly)
c.3211C>G (p.Arg1071Gly)
c.7726C>G (p.Arg2576Gly)
n.9118C>G
n.9113C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13776688G=CA1528435421DNAH5c.9124C= (p.Arg3042=)
c.9079C= (p.Arg3027=)
c.*11C= (n.*11C=)
n.9195C=
c.9232C= (p.Arg3078=)
c.8137C= (p.Arg2713=)
c.4321C= (p.Arg1441=)
c.3874C= (p.Arg1292=)
c.3211C= (p.Arg1071=)
c.7726C= (p.Arg2576=)
n.9118C=
n.9113C=
5g.13776688G>TCA443535815DNAH5c.9124C>A (p.Arg3042=)
c.9079C>A (p.Arg3027=)
c.*11C>A (n.*11C>A)
n.9195C>A
c.9232C>A (p.Arg3078=)
c.8137C>A (p.Arg2713=)
c.4321C>A (p.Arg1441=)
c.3874C>A (p.Arg1292=)
c.3211C>A (p.Arg1071=)
c.7726C>A (p.Arg2576=)
n.9118C>A
n.9113C>A
 COSMIC
5g.13776689A=CA1528435431DNAH5c.9123T= (p.Ala3041=)
c.9078T= (p.Ala3026=)
c.*10T= (n.*10T=)
n.9194T=
c.9231T= (p.Ala3077=)
c.8136T= (p.Ala2712=)
c.4320T= (p.Ala1440=)
c.3873T= (p.Ala1291=)
c.3210T= (p.Ala1070=)
c.7725T= (p.Ala2575=)
n.9117T=
n.9112T=
5g.13776689A>CCA113937786DNAH5c.9123T>G (p.Ala3041=)
c.9078T>G (p.Ala3026=)
c.*10T>G (n.*10T>G)
n.9194T>G
c.9231T>G (p.Ala3077=)
c.8136T>G (p.Ala2712=)
c.4320T>G (p.Ala1440=)
c.3873T>G (p.Ala1291=)
c.3210T>G (p.Ala1070=)
c.7725T>G (p.Ala2575=)
n.9117T>G
n.9112T>G
 ClinVar dbSNP gnomAD v4
5g.13776689A>GCA443535817DNAH5c.9123T>C (p.Ala3041=)
c.9078T>C (p.Ala3026=)
c.*10T>C (n.*10T>C)
n.9194T>C
c.9231T>C (p.Ala3077=)
c.8136T>C (p.Ala2712=)
c.4320T>C (p.Ala1440=)
c.3873T>C (p.Ala1291=)
c.3210T>C (p.Ala1070=)
c.7725T>C (p.Ala2575=)
n.9117T>C
n.9112T>C
 ClinVar dbSNP
5g.13776689A>TCA443535818DNAH5c.9123T>A (p.Ala3041=)
c.9078T>A (p.Ala3026=)
c.*10T>A (n.*10T>A)
n.9194T>A
c.9231T>A (p.Ala3077=)
c.8136T>A (p.Ala2712=)
c.4320T>A (p.Ala1440=)
c.3873T>A (p.Ala1291=)
c.3210T>A (p.Ala1070=)
c.7725T>A (p.Ala2575=)
n.9117T>A
n.9112T>A
 dbSNP gnomAD v3 gnomAD v4
5g.13776690G>ACA359209767DNAH5c.9122C>T (p.Ala3041Val)
c.9077C>T (p.Ala3026Val)
c.*9C>T (n.*9C>T)
n.9193C>T
c.9230C>T (p.Ala3077Val)
c.8135C>T (p.Ala2712Val)
c.4319C>T (p.Ala1440Val)
c.3872C>T (p.Ala1291Val)
c.3209C>T (p.Ala1070Val)
c.7724C>T (p.Ala2575Val)
n.9116C>T
n.9111C>T
 dbSNP
5g.13776690G>CCA359209769DNAH5c.9122C>G (p.Ala3041Gly)
c.9077C>G (p.Ala3026Gly)
c.*9C>G (n.*9C>G)
n.9193C>G
c.9230C>G (p.Ala3077Gly)
c.8135C>G (p.Ala2712Gly)
c.4319C>G (p.Ala1440Gly)
c.3872C>G (p.Ala1291Gly)
c.3209C>G (p.Ala1070Gly)
c.7724C>G (p.Ala2575Gly)
n.9116C>G
n.9111C>G
5g.13776690G=CA1528435436DNAH5c.9122C= (p.Ala3041=)
c.9077C= (p.Ala3026=)
c.*9C= (n.*9C=)
n.9193C=
c.9230C= (p.Ala3077=)
c.8135C= (p.Ala2712=)
c.4319C= (p.Ala1440=)
c.3872C= (p.Ala1291=)
c.3209C= (p.Ala1070=)
c.7724C= (p.Ala2575=)
n.9116C=
n.9111C=
5g.13776690G>TCA359209772DNAH5c.9122C>A (p.Ala3041Asp)
c.9077C>A (p.Ala3026Asp)
c.*9C>A (n.*9C>A)
n.9193C>A
c.9230C>A (p.Ala3077Asp)
c.8135C>A (p.Ala2712Asp)
c.4319C>A (p.Ala1440Asp)
c.3872C>A (p.Ala1291Asp)
c.3209C>A (p.Ala1070Asp)
c.7724C>A (p.Ala2575Asp)
n.9116C>A
n.9111C>A
 gnomAD v4
5g.13776690_13776691insACA2673268736DNAH5c.9121_9122insT (p.Ala3041ValfsTer4)
c.9076_9077insT (p.Ala3026ValfsTer4)
c.*8_*9insT (n.*8_*9insT)
n.9192_9193insT
c.9229_9230insT (p.Ala3077ValfsTer4)
c.8134_8135insT (p.Ala2712ValfsTer4)
c.4318_4319insT (p.Ala1440ValfsTer4)
c.3871_3872insT (p.Ala1291ValfsTer4)
c.3208_3209insT (p.Ala1070ValfsTer4)
c.7723_7724insT (p.Ala2575ValfsTer4)
n.9115_9116insT
n.9110_9111insT
 gnomAD v4
5g.13776691C>ACA359209790DNAH5c.9121G>T (p.Ala3041Ser)
c.9076G>T (p.Ala3026Ser)
c.*8G>T (n.*8G>T)
n.9192G>T
c.9229G>T (p.Ala3077Ser)
c.8134G>T (p.Ala2712Ser)
c.4318G>T (p.Ala1440Ser)
c.3871G>T (p.Ala1291Ser)
c.3208G>T (p.Ala1070Ser)
c.7723G>T (p.Ala2575Ser)
n.9115G>T
n.9110G>T
 gnomAD v4
5g.13776691C>GCA359209792DNAH5c.9121G>C (p.Ala3041Pro)
c.9076G>C (p.Ala3026Pro)
c.*8G>C (n.*8G>C)
n.9192G>C
c.9229G>C (p.Ala3077Pro)
c.8134G>C (p.Ala2712Pro)
c.4318G>C (p.Ala1440Pro)
c.3871G>C (p.Ala1291Pro)
c.3208G>C (p.Ala1070Pro)
c.7723G>C (p.Ala2575Pro)
n.9115G>C
n.9110G>C
5g.13776691C>TCA359209794DNAH5c.9121G>A (p.Ala3041Thr)
c.9076G>A (p.Ala3026Thr)
c.*8G>A (n.*8G>A)
n.9192G>A
c.9229G>A (p.Ala3077Thr)
c.8134G>A (p.Ala2712Thr)
c.4318G>A (p.Ala1440Thr)
c.3871G>A (p.Ala1291Thr)
c.3208G>A (p.Ala1070Thr)
c.7723G>A (p.Ala2575Thr)
n.9115G>A
n.9110G>A
5g.13776692A>CCA359209795DNAH5c.9120T>G (p.Phe3040Leu)
c.9075T>G (p.Phe3025Leu)
c.*7T>G (n.*7T>G)
n.9191T>G
c.9228T>G (p.Phe3076Leu)
c.8133T>G (p.Phe2711Leu)
c.4317T>G (p.Phe1439Leu)
c.3870T>G (p.Phe1290Leu)
c.3207T>G (p.Phe1069Leu)
c.7722T>G (p.Phe2574Leu)
n.9114T>G
n.9109T>G
5g.13776692A>GCA443535825DNAH5c.9120T>C (p.Phe3040=)
c.9075T>C (p.Phe3025=)
c.*7T>C (n.*7T>C)
n.9191T>C
c.9228T>C (p.Phe3076=)
c.8133T>C (p.Phe2711=)
c.4317T>C (p.Phe1439=)
c.3870T>C (p.Phe1290=)
c.3207T>C (p.Phe1069=)
c.7722T>C (p.Phe2574=)
n.9114T>C
n.9109T>C
5g.13776692A>TCA359209796DNAH5c.9120T>A (p.Phe3040Leu)
c.9075T>A (p.Phe3025Leu)
c.*7T>A (n.*7T>A)
n.9191T>A
c.9228T>A (p.Phe3076Leu)
c.8133T>A (p.Phe2711Leu)
c.4317T>A (p.Phe1439Leu)
c.3870T>A (p.Phe1290Leu)
c.3207T>A (p.Phe1069Leu)
c.7722T>A (p.Phe2574Leu)
n.9114T>A
n.9109T>A
5g.13776693A>CCA359209798DNAH5c.9119T>G (p.Phe3040Cys)
c.9074T>G (p.Phe3025Cys)
c.*6T>G (n.*6T>G)
n.9190T>G
c.9227T>G (p.Phe3076Cys)
c.8132T>G (p.Phe2711Cys)
c.4316T>G (p.Phe1439Cys)
c.3869T>G (p.Phe1290Cys)
c.3206T>G (p.Phe1069Cys)
c.7721T>G (p.Phe2574Cys)
n.9113T>G
n.9108T>G
5g.13776693A>GCA359209802DNAH5c.9119T>C (p.Phe3040Ser)
c.9074T>C (p.Phe3025Ser)
c.*6T>C (n.*6T>C)
n.9190T>C
c.9227T>C (p.Phe3076Ser)
c.8132T>C (p.Phe2711Ser)
c.4316T>C (p.Phe1439Ser)
c.3869T>C (p.Phe1290Ser)
c.3206T>C (p.Phe1069Ser)
c.7721T>C (p.Phe2574Ser)
n.9113T>C
n.9108T>C
5g.13776693A>TCA359209800DNAH5c.9119T>A (p.Phe3040Tyr)
c.9074T>A (p.Phe3025Tyr)
c.*6T>A (n.*6T>A)
n.9190T>A
c.9227T>A (p.Phe3076Tyr)
c.8132T>A (p.Phe2711Tyr)
c.4316T>A (p.Phe1439Tyr)
c.3869T>A (p.Phe1290Tyr)
c.3206T>A (p.Phe1069Tyr)
c.7721T>A (p.Phe2574Tyr)
n.9113T>A
n.9108T>A
 gnomAD v4
5g.13776694A>CCA359209805DNAH5c.9118T>G (p.Phe3040Val)
c.9073T>G (p.Phe3025Val)
c.*5T>G (n.*5T>G)
n.9189T>G
c.9226T>G (p.Phe3076Val)
c.8131T>G (p.Phe2711Val)
c.4315T>G (p.Phe1439Val)
c.3868T>G (p.Phe1290Val)
c.3205T>G (p.Phe1069Val)
c.7720T>G (p.Phe2574Val)
n.9112T>G
n.9107T>G
5g.13776694A>GCA359209807DNAH5c.9118T>C (p.Phe3040Leu)
c.9073T>C (p.Phe3025Leu)
c.*5T>C (n.*5T>C)
n.9189T>C
c.9226T>C (p.Phe3076Leu)
c.8131T>C (p.Phe2711Leu)
c.4315T>C (p.Phe1439Leu)
c.3868T>C (p.Phe1290Leu)
c.3205T>C (p.Phe1069Leu)
c.7720T>C (p.Phe2574Leu)
n.9112T>C
n.9107T>C
5g.13776694A>TCA359209809DNAH5c.9118T>A (p.Phe3040Ile)
c.9073T>A (p.Phe3025Ile)
c.*5T>A (n.*5T>A)
n.9189T>A
c.9226T>A (p.Phe3076Ile)
c.8131T>A (p.Phe2711Ile)
c.4315T>A (p.Phe1439Ile)
c.3868T>A (p.Phe1290Ile)
c.3205T>A (p.Phe1069Ile)
c.7720T>A (p.Phe2574Ile)
n.9112T>A
n.9107T>A
5g.13776694_13776699delinsATAGGTCA1528435438DNAH5c.9113_9118delinsACCTAT (p.Asn3038=)
c.9068_9073delinsACCTAT (p.Asn3023=)
c.9108_*5delinsACCTAT (n.[c.9108_*5delinsACCTAT;Ter3036=])
n.9184_9189delinsACCTAT
c.9221_9226delinsACCTAT (p.Asn3074=)
c.8126_8131delinsACCTAT (p.Asn2709=)
c.9216_*5delinsACCTAT (n.[c.9216_*5delinsACCTAT;Ter3072=])
c.4310_4315delinsACCTAT (p.Asn1437=)
c.3863_3868delinsACCTAT (p.Asn1288=)
c.3200_3205delinsACCTAT (p.Asn1067=)
c.7715_7720delinsACCTAT (p.Asn2572=)
n.9107_9112delinsACCTAT
n.9102_9107delinsACCTAT
5g.13776695T>ACA443535830DNAH5c.9117A>T (p.Leu3039=)
c.9072A>T (p.Leu3024=)
c.*4A>T (n.*4A>T)
n.9188A>T
c.9225A>T (p.Leu3075=)
c.8130A>T (p.Leu2710=)
c.4314A>T (p.Leu1438=)
c.3867A>T (p.Leu1289=)
c.3204A>T (p.Leu1068=)
c.7719A>T (p.Leu2573=)
n.9111A>T
n.9106A>T
5g.13776695T>CCA3202608DNAH5c.9117A>G (p.Leu3039=)
c.9072A>G (p.Leu3024=)
c.*4A>G (n.*4A>G)
n.9188A>G
c.9225A>G (p.Leu3075=)
c.8130A>G (p.Leu2710=)
c.4314A>G (p.Leu1438=)
c.3867A>G (p.Leu1289=)
c.3204A>G (p.Leu1068=)
c.7719A>G (p.Leu2573=)
n.9111A>G
n.9106A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13776695T>GCA443535832DNAH5c.9117A>C (p.Leu3039=)
c.9072A>C (p.Leu3024=)
c.*4A>C (n.*4A>C)
n.9188A>C
c.9225A>C (p.Leu3075=)
c.8130A>C (p.Leu2710=)
c.4314A>C (p.Leu1438=)
c.3867A>C (p.Leu1289=)
c.3204A>C (p.Leu1068=)
c.7719A>C (p.Leu2573=)
n.9111A>C
n.9106A>C
5g.13776695T=CA1528435443DNAH5c.9117A= (p.Leu3039=)
c.9072A= (p.Leu3024=)
c.*4A= (n.*4A=)
n.9188A=
c.9225A= (p.Leu3075=)
c.8130A= (p.Leu2710=)
c.4314A= (p.Leu1438=)
c.3867A= (p.Leu1289=)
c.3204A= (p.Leu1068=)
c.7719A= (p.Leu2573=)
n.9111A=
n.9106A=
5g.13776698_13776702delCA804427824DNAH5c.9113_9117del (p.Asn3038IlefsTer5)
c.9068_9072del (p.Asn3023IlefsTer5)
c.9108_*4del (n.[c.9108_*4del;Ter3036TyrextTer?])
n.9184_9188del
c.9221_9225del (p.Asn3074IlefsTer5)
c.8126_8130del (p.Asn2709IlefsTer5)
c.9216_*4del (n.[c.9216_*4del;Ter3072TyrextTer18])
c.4310_4314del (p.Asn1437IlefsTer5)
c.3863_3867del (p.Asn1288IlefsTer5)
c.3200_3204del (p.Asn1067IlefsTer5)
c.7715_7719del (p.Asn2572IlefsTer5)
n.9107_9111del
n.9102_9106del
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.13776696A=CA1528435447DNAH5c.9116T= (p.Leu3039=)
c.9071T= (p.Leu3024=)
c.*3T= (n.*3T=)
n.9187T=
c.9224T= (p.Leu3075=)
c.8129T= (p.Leu2710=)
c.4313T= (p.Leu1438=)
c.3866T= (p.Leu1289=)
c.3203T= (p.Leu1068=)
c.7718T= (p.Leu2573=)
n.9110T=
n.9105T=
5g.13776696A>CCA359209812DNAH5c.9116T>G (p.Leu3039Arg)
c.9071T>G (p.Leu3024Arg)
c.*3T>G (n.*3T>G)
n.9187T>G
c.9224T>G (p.Leu3075Arg)
c.8129T>G (p.Leu2710Arg)
c.4313T>G (p.Leu1438Arg)
c.3866T>G (p.Leu1289Arg)
c.3203T>G (p.Leu1068Arg)
c.7718T>G (p.Leu2573Arg)
n.9110T>G
n.9105T>G
5g.13776696A>GCA3202609DNAH5c.9116T>C (p.Leu3039Pro)
c.9071T>C (p.Leu3024Pro)
c.*3T>C (n.*3T>C)
n.9187T>C
c.9224T>C (p.Leu3075Pro)
c.8129T>C (p.Leu2710Pro)
c.4313T>C (p.Leu1438Pro)
c.3866T>C (p.Leu1289Pro)
c.3203T>C (p.Leu1068Pro)
c.7718T>C (p.Leu2573Pro)
n.9110T>C
n.9105T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13776696A>TCA359209816DNAH5c.9116T>A (p.Leu3039Gln)
c.9071T>A (p.Leu3024Gln)
c.*3T>A (n.*3T>A)
n.9187T>A
c.9224T>A (p.Leu3075Gln)
c.8129T>A (p.Leu2710Gln)
c.4313T>A (p.Leu1438Gln)
c.3866T>A (p.Leu1289Gln)
c.3203T>A (p.Leu1068Gln)
c.7718T>A (p.Leu2573Gln)
n.9110T>A
n.9105T>A
5g.13776697G>ACA443535834DNAH5c.9115C>T (p.Leu3039=)
c.9070C>T (p.Leu3024=)
c.*2C>T (n.*2C>T)
n.9186C>T
c.9223C>T (p.Leu3075=)
c.8128C>T (p.Leu2710=)
c.4312C>T (p.Leu1438=)
c.3865C>T (p.Leu1289=)
c.3202C>T (p.Leu1068=)
c.7717C>T (p.Leu2573=)
n.9109C>T
n.9104C>T
5g.13776697G>CCA359209819DNAH5c.9115C>G (p.Leu3039Val)
c.9070C>G (p.Leu3024Val)
c.*2C>G (n.*2C>G)
n.9186C>G
c.9223C>G (p.Leu3075Val)
c.8128C>G (p.Leu2710Val)
c.4312C>G (p.Leu1438Val)
c.3865C>G (p.Leu1289Val)
c.3202C>G (p.Leu1068Val)
c.7717C>G (p.Leu2573Val)
n.9109C>G
n.9104C>G
5g.13776697G>TCA359209829DNAH5c.9115C>A (p.Leu3039Ile)
c.9070C>A (p.Leu3024Ile)
c.*2C>A (n.*2C>A)
n.9186C>A
c.9223C>A (p.Leu3075Ile)
c.8128C>A (p.Leu2710Ile)
c.4312C>A (p.Leu1438Ile)
c.3865C>A (p.Leu1289Ile)
c.3202C>A (p.Leu1068Ile)
c.7717C>A (p.Leu2573Ile)
n.9109C>A
n.9104C>A
 gnomAD v4
5g.13776698G>ACA443535835DNAH5c.9114C>T (p.Asn3038=)
c.9069C>T (p.Asn3023=)
c.*1C>T (n.*1C>T)
n.9185C>T
c.9222C>T (p.Asn3074=)
c.8127C>T (p.Asn2709=)
c.4311C>T (p.Asn1437=)
c.3864C>T (p.Asn1288=)
c.3201C>T (p.Asn1067=)
c.7716C>T (p.Asn2572=)
n.9108C>T
n.9103C>T
5g.13776698G>CCA359209834DNAH5c.9114C>G (p.Asn3038Lys)
c.9069C>G (p.Asn3023Lys)
c.*1C>G (n.*1C>G)
n.9185C>G
c.9222C>G (p.Asn3074Lys)
c.8127C>G (p.Asn2709Lys)
c.4311C>G (p.Asn1437Lys)
c.3864C>G (p.Asn1288Lys)
c.3201C>G (p.Asn1067Lys)
c.7716C>G (p.Asn2572Lys)
n.9108C>G
n.9103C>G
 dbSNP gnomAD v4
5g.13776698G=CA1528435450DNAH5c.9114C= (p.Asn3038=)
c.9069C= (p.Asn3023=)
c.*1C= (n.*1C=)
n.9185C=
c.9222C= (p.Asn3074=)
c.8127C= (p.Asn2709=)
c.4311C= (p.Asn1437=)
c.3864C= (p.Asn1288=)
c.3201C= (p.Asn1067=)
c.7716C= (p.Asn2572=)
n.9108C=
n.9103C=
5g.13776698G>TCA359209835DNAH5c.9114C>A (p.Asn3038Lys)
c.9069C>A (p.Asn3023Lys)
c.*1C>A (n.*1C>A)
n.9185C>A
c.9222C>A (p.Asn3074Lys)
c.8127C>A (p.Asn2709Lys)
c.4311C>A (p.Asn1437Lys)
c.3864C>A (p.Asn1288Lys)
c.3201C>A (p.Asn1067Lys)
c.7716C>A (p.Asn2572Lys)
n.9108C>A
n.9103C>A
5g.13776699T>ACA359209839DNAH5c.9113A>T (p.Asn3038Ile)
c.9068A>T (p.Asn3023Ile)
c.9108A>T (p.Ter3036Tyr)
n.9184A>T
c.9221A>T (p.Asn3074Ile)
c.8126A>T (p.Asn2709Ile)
c.9216A>T (p.Ter3072Tyr)
c.4310A>T (p.Asn1437Ile)
c.3863A>T (p.Asn1288Ile)
c.3200A>T (p.Asn1067Ile)
c.7715A>T (p.Asn2572Ile)
n.9107A>T
n.9102A>T
5g.13776699T>CCA359209841DNAH5c.9113A>G (p.Asn3038Ser)
c.9068A>G (p.Asn3023Ser)
c.9108A>G (p.Ter3036=)
n.9184A>G
c.9221A>G (p.Asn3074Ser)
c.8126A>G (p.Asn2709Ser)
c.9216A>G (p.Ter3072=)
c.4310A>G (p.Asn1437Ser)
c.3863A>G (p.Asn1288Ser)
c.3200A>G (p.Asn1067Ser)
c.7715A>G (p.Asn2572Ser)
n.9107A>G
n.9102A>G
5g.13776699T>GCA359209844DNAH5c.9113A>C (p.Asn3038Thr)
c.9068A>C (p.Asn3023Thr)
c.9108A>C (p.Ter3036Tyr)
n.9184A>C
c.9221A>C (p.Asn3074Thr)
c.8126A>C (p.Asn2709Thr)
c.9216A>C (p.Ter3072Tyr)
c.4310A>C (p.Asn1437Thr)
c.3863A>C (p.Asn1288Thr)
c.3200A>C (p.Asn1067Thr)
c.7715A>C (p.Asn2572Thr)
n.9107A>C
n.9102A>C
5g.13776700T>ACA359209845DNAH5c.9112A>T (p.Asn3038Tyr)
c.9067A>T (p.Asn3023Tyr)
c.9107A>T (p.Ter3036Leu)
n.9183A>T
c.9220A>T (p.Asn3074Tyr)
c.8125A>T (p.Asn2709Tyr)
c.9215A>T (p.Ter3072Leu)
c.4309A>T (p.Asn1437Tyr)
c.3862A>T (p.Asn1288Tyr)
c.3199A>T (p.Asn1067Tyr)
c.7714A>T (p.Asn2572Tyr)
n.9106A>T
n.9101A>T
5g.13776700T>CCA359209846DNAH5c.9112A>G (p.Asn3038Asp)
c.9067A>G (p.Asn3023Asp)
c.9107A>G (p.Ter3036=)
n.9183A>G
c.9220A>G (p.Asn3074Asp)
c.8125A>G (p.Asn2709Asp)
c.9215A>G (p.Ter3072=)
c.4309A>G (p.Asn1437Asp)
c.3862A>G (p.Asn1288Asp)
c.3199A>G (p.Asn1067Asp)
c.7714A>G (p.Asn2572Asp)
n.9106A>G
n.9101A>G
5g.13776700T>GCA359209847DNAH5c.9112A>C (p.Asn3038His)
c.9067A>C (p.Asn3023His)
c.9107A>C (p.Ter3036Ser)
n.9183A>C
c.9220A>C (p.Asn3074His)
c.8125A>C (p.Asn2709His)
c.9215A>C (p.Ter3072Ser)
c.4309A>C (p.Asn1437His)
c.3862A>C (p.Asn1288His)
c.3199A>C (p.Asn1067His)
c.7714A>C (p.Asn2572His)
n.9106A>C
n.9101A>C
5g.13776701A=CA1528435453DNAH5c.9111T= (p.Ser3037=)
c.9066T= (p.Ser3022=)
c.9106T= (p.Ter3036=)
n.9182T=
c.9219T= (p.Ser3073=)
c.8124T= (p.Ser2708=)
c.9214T= (p.Ter3072=)
c.4308T= (p.Ser1436=)
c.3861T= (p.Ser1287=)
c.3198T= (p.Ser1066=)
c.7713T= (p.Ser2571=)
n.9105T=
n.9100T=
5g.13776701A>CCA443535844DNAH5c.9111T>G (p.Ser3037=)
c.9066T>G (p.Ser3022=)
c.9106T>G (p.Ter3036Glu)
n.9182T>G
c.9219T>G (p.Ser3073=)
c.8124T>G (p.Ser2708=)
c.9214T>G (p.Ter3072Glu)
c.4308T>G (p.Ser1436=)
c.3861T>G (p.Ser1287=)
c.3198T>G (p.Ser1066=)
c.7713T>G (p.Ser2571=)
n.9105T>G
n.9100T>G
5g.13776701A>GCA3202610DNAH5c.9111T>C (p.Ser3037=)
c.9066T>C (p.Ser3022=)
c.9106T>C (p.Ter3036Gln)
n.9182T>C
c.9219T>C (p.Ser3073=)
c.8124T>C (p.Ser2708=)
c.9214T>C (p.Ter3072Gln)
c.4308T>C (p.Ser1436=)
c.3861T>C (p.Ser1287=)
c.3198T>C (p.Ser1066=)
c.7713T>C (p.Ser2571=)
n.9105T>C
n.9100T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13776701A>TCA443535845DNAH5c.9111T>A (p.Ser3037=)
c.9066T>A (p.Ser3022=)
c.9106T>A (p.Ter3036Lys)
n.9182T>A
c.9219T>A (p.Ser3073=)
c.8124T>A (p.Ser2708=)
c.9214T>A (p.Ter3072Lys)
c.4308T>A (p.Ser1436=)
c.3861T>A (p.Ser1287=)
c.3198T>A (p.Ser1066=)
c.7713T>A (p.Ser2571=)
n.9105T>A
n.9100T>A
5g.13776702G>ACA359209852DNAH5c.9110C>T (p.Ser3037Phe)
c.9065C>T (p.Ser3022Phe)
c.9105C>T (p.Leu3035=)
n.9181C>T
c.9218C>T (p.Ser3073Phe)
c.8123C>T (p.Ser2708Phe)
c.9213C>T (p.Leu3071=)
c.4307C>T (p.Ser1436Phe)
c.3860C>T (p.Ser1287Phe)
c.3197C>T (p.Ser1066Phe)
c.7712C>T (p.Ser2571Phe)
n.9104C>T
n.9099C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13776702G>CCA359209857DNAH5c.9110C>G (p.Ser3037Cys)
c.9065C>G (p.Ser3022Cys)
c.9105C>G (p.Leu3035=)
n.9181C>G
c.9218C>G (p.Ser3073Cys)
c.8123C>G (p.Ser2708Cys)
c.9213C>G (p.Leu3071=)
c.4307C>G (p.Ser1436Cys)
c.3860C>G (p.Ser1287Cys)
c.3197C>G (p.Ser1066Cys)
c.7712C>G (p.Ser2571Cys)
n.9104C>G
n.9099C>G
5g.13776702G=CA1528435457DNAH5c.9110C= (p.Ser3037=)
c.9065C= (p.Ser3022=)
c.9105C= (p.Leu3035=)
n.9181C=
c.9218C= (p.Ser3073=)
c.8123C= (p.Ser2708=)
c.9213C= (p.Leu3071=)
c.4307C= (p.Ser1436=)
c.3860C= (p.Ser1287=)
c.3197C= (p.Ser1066=)
c.7712C= (p.Ser2571=)
n.9104C=
n.9099C=
5g.13776702G>TCA359209854DNAH5c.9110C>A (p.Ser3037Tyr)
c.9065C>A (p.Ser3022Tyr)
c.9105C>A (p.Leu3035=)
n.9181C>A
c.9218C>A (p.Ser3073Tyr)
c.8123C>A (p.Ser2708Tyr)
c.9213C>A (p.Leu3071=)
c.4307C>A (p.Ser1436Tyr)
c.3860C>A (p.Ser1287Tyr)
c.3197C>A (p.Ser1066Tyr)
c.7712C>A (p.Ser2571Tyr)
n.9104C>A
n.9099C>A
 COSMIC
5g.13776703A>CCA359209861DNAH5c.9109T>G (p.Ser3037Ala)
c.9064T>G (p.Ser3022Ala)
c.9104T>G (p.Leu3035Arg)
n.9180T>G
c.9217T>G (p.Ser3073Ala)
c.8122T>G (p.Ser2708Ala)
c.9212T>G (p.Leu3071Arg)
c.4306T>G (p.Ser1436Ala)
c.3859T>G (p.Ser1287Ala)
c.3196T>G (p.Ser1066Ala)
c.7711T>G (p.Ser2571Ala)
n.9103T>G
n.9098T>G
5g.13776703A>GCA359209863DNAH5c.9109T>C (p.Ser3037Pro)
c.9064T>C (p.Ser3022Pro)
c.9104T>C (p.Leu3035Pro)
n.9180T>C
c.9217T>C (p.Ser3073Pro)
c.8122T>C (p.Ser2708Pro)
c.9212T>C (p.Leu3071Pro)
c.4306T>C (p.Ser1436Pro)
c.3859T>C (p.Ser1287Pro)
c.3196T>C (p.Ser1066Pro)
c.7711T>C (p.Ser2571Pro)
n.9103T>C
n.9098T>C
5g.13776703A>TCA359209866DNAH5c.9109T>A (p.Ser3037Thr)
c.9064T>A (p.Ser3022Thr)
c.9104T>A (p.Leu3035His)
n.9180T>A
c.9217T>A (p.Ser3073Thr)
c.8122T>A (p.Ser2708Thr)
c.9212T>A (p.Leu3071His)
c.4306T>A (p.Ser1436Thr)
c.3859T>A (p.Ser1287Thr)
c.3196T>A (p.Ser1066Thr)
c.7711T>A (p.Ser2571Thr)
n.9103T>A
n.9098T>A
5g.13776704G>ACA443535847DNAH5c.9108C>T (p.Val3036=)
c.9063C>T (p.Val3021=)
c.9103C>T (p.Leu3035Phe)
n.9179C>T
c.9216C>T (p.Val3072=)
c.8121C>T (p.Val2707=)
c.9211C>T (p.Leu3071Phe)
c.4305C>T (p.Val1435=)
c.3858C>T (p.Val1286=)
c.3195C>T (p.Val1065=)
c.7710C>T (p.Val2570=)
n.9102C>T
n.9097C>T
 gnomAD v4
5g.13776704G>CCA443535849DNAH5c.9108C>G (p.Val3036=)
c.9063C>G (p.Val3021=)
c.9103C>G (p.Leu3035Val)
n.9179C>G
c.9216C>G (p.Val3072=)
c.8121C>G (p.Val2707=)
c.9211C>G (p.Leu3071Val)
c.4305C>G (p.Val1435=)
c.3858C>G (p.Val1286=)
c.3195C>G (p.Val1065=)
c.7710C>G (p.Val2570=)
n.9102C>G
n.9097C>G
5g.13776704G=CA1528435460DNAH5c.9108C= (p.Val3036=)
c.9063C= (p.Val3021=)
c.9103C= (p.Leu3035=)
n.9179C=
c.9216C= (p.Val3072=)
c.8121C= (p.Val2707=)
c.9211C= (p.Leu3071=)
c.4305C= (p.Val1435=)
c.3858C= (p.Val1286=)
c.3195C= (p.Val1065=)
c.7710C= (p.Val2570=)
n.9102C=
n.9097C=
5g.13776704G>TCA3202611DNAH5c.9108C>A (p.Val3036=)
c.9063C>A (p.Val3021=)
c.9103C>A (p.Leu3035Ile)
n.9179C>A
c.9216C>A (p.Val3072=)
c.8121C>A (p.Val2707=)
c.9211C>A (p.Leu3071Ile)
c.4305C>A (p.Val1435=)
c.3858C>A (p.Val1286=)
c.3195C>A (p.Val1065=)
c.7710C>A (p.Val2570=)
n.9102C>A
n.9097C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13776705A>CCA359209868DNAH5c.9107T>G (p.Val3036Gly)
c.9062T>G (p.Val3021Gly)
c.9102T>G (p.Gly3034=)
n.9178T>G
c.9215T>G (p.Val3072Gly)
c.8120T>G (p.Val2707Gly)
c.9210T>G (p.Gly3070=)
c.4304T>G (p.Val1435Gly)
c.3857T>G (p.Val1286Gly)
c.3194T>G (p.Val1065Gly)
c.7709T>G (p.Val2570Gly)
n.9101T>G
n.9096T>G
5g.13776705A>GCA359209869DNAH5c.9107T>C (p.Val3036Ala)
c.9062T>C (p.Val3021Ala)
c.9102T>C (p.Gly3034=)
n.9178T>C
c.9215T>C (p.Val3072Ala)
c.8120T>C (p.Val2707Ala)
c.9210T>C (p.Gly3070=)
c.4304T>C (p.Val1435Ala)
c.3857T>C (p.Val1286Ala)
c.3194T>C (p.Val1065Ala)
c.7709T>C (p.Val2570Ala)
n.9101T>C
n.9096T>C
5g.13776705A>TCA359209872DNAH5c.9107T>A (p.Val3036Asp)
c.9062T>A (p.Val3021Asp)
c.9102T>A (p.Gly3034=)
n.9178T>A
c.9215T>A (p.Val3072Asp)
c.8120T>A (p.Val2707Asp)
c.9210T>A (p.Gly3070=)
c.4304T>A (p.Val1435Asp)
c.3857T>A (p.Val1286Asp)
c.3194T>A (p.Val1065Asp)
c.7709T>A (p.Val2570Asp)
n.9101T>A
n.9096T>A
5g.13776706C>ACA359209876DNAH5c.9106G>T (p.Val3036Phe)
c.9061G>T (p.Val3021Phe)
c.9101G>T (p.Gly3034Val)
n.9177G>T
c.9214G>T (p.Val3072Phe)
c.8119G>T (p.Val2707Phe)
c.9209G>T (p.Gly3070Val)
c.4303G>T (p.Val1435Phe)
c.3856G>T (p.Val1286Phe)
c.3193G>T (p.Val1065Phe)
c.7708G>T (p.Val2570Phe)
n.9100G>T
n.9095G>T
 gnomAD v4
5g.13776706C=CA1528435462DNAH5c.9106G= (p.Val3036=)
c.9061G= (p.Val3021=)
c.9101G= (p.Gly3034=)
n.9177G=
c.9214G= (p.Val3072=)
c.8119G= (p.Val2707=)
c.9209G= (p.Gly3070=)
c.4303G= (p.Val1435=)
c.3856G= (p.Val1286=)
c.3193G= (p.Val1065=)
c.7708G= (p.Val2570=)
n.9100G=
n.9095G=
5g.13776706C>GCA359209877DNAH5c.9106G>C (p.Val3036Leu)
c.9061G>C (p.Val3021Leu)
c.9101G>C (p.Gly3034Ala)
n.9177G>C
c.9214G>C (p.Val3072Leu)
c.8119G>C (p.Val2707Leu)
c.9209G>C (p.Gly3070Ala)
c.4303G>C (p.Val1435Leu)
c.3856G>C (p.Val1286Leu)
c.3193G>C (p.Val1065Leu)
c.7708G>C (p.Val2570Leu)
n.9100G>C
n.9095G>C
5g.13776706C>TCA359209880DNAH5c.9106G>A (p.Val3036Ile)
c.9061G>A (p.Val3021Ile)
c.9101G>A (p.Gly3034Asp)
n.9177G>A
c.9214G>A (p.Val3072Ile)
c.8119G>A (p.Val2707Ile)
c.9209G>A (p.Gly3070Asp)
c.4303G>A (p.Val1435Ile)
c.3856G>A (p.Val1286Ile)
c.3193G>A (p.Val1065Ile)
c.7708G>A (p.Val2570Ile)
n.9100G>A
n.9095G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
5g.13776707C>ACA359209883DNAH5c.9106-1G>T (n.9106-1G>T)
c.9061-1G>T (n.9061-1G>T)
c.9101-1G>T (n.9101-1G>T)
n.9177-1G>T
c.9214-1G>T (n.9214-1G>T)
c.8119-1G>T (n.8119-1G>T)
c.9209-1G>T (n.9209-1G>T)
c.4303-1G>T (n.4303-1G>T)
c.3856-1G>T (n.3856-1G>T)
c.3193-1G>T (n.3193-1G>T)
c.7708-1G>T (n.7708-1G>T)
n.9100-1G>T
n.9095-1G>T
5g.13776707C=CA1528435464DNAH5c.9106-1G= (n.9106-1G=)
c.9061-1G= (n.9061-1G=)
c.9101-1G= (n.9101-1G=)
n.9177-1G=
c.9214-1G= (n.9214-1G=)
c.8119-1G= (n.8119-1G=)
c.9209-1G= (n.9209-1G=)
c.4303-1G= (n.4303-1G=)
c.3856-1G= (n.3856-1G=)
c.3193-1G= (n.3193-1G=)
c.7708-1G= (n.7708-1G=)
n.9100-1G=
n.9095-1G=
5g.13776707C>GCA359209886DNAH5c.9106-1G>C (n.9106-1G>C)
c.9061-1G>C (n.9061-1G>C)
c.9101-1G>C (n.9101-1G>C)
n.9177-1G>C
c.9214-1G>C (n.9214-1G>C)
c.8119-1G>C (n.8119-1G>C)
c.9209-1G>C (n.9209-1G>C)
c.4303-1G>C (n.4303-1G>C)
c.3856-1G>C (n.3856-1G>C)
c.3193-1G>C (n.3193-1G>C)
c.7708-1G>C (n.7708-1G>C)
n.9100-1G>C
n.9095-1G>C
5g.13776707C>TCA3202612DNAH5c.9106-1G>A (n.9106-1G>A)
c.9061-1G>A (n.9061-1G>A)
c.9101-1G>A (n.9101-1G>A)
n.9177-1G>A
c.9214-1G>A (n.9214-1G>A)
c.8119-1G>A (n.8119-1G>A)
c.9209-1G>A (n.9209-1G>A)
c.4303-1G>A (n.4303-1G>A)
c.3856-1G>A (n.3856-1G>A)
c.3193-1G>A (n.3193-1G>A)
c.7708-1G>A (n.7708-1G>A)
n.9100-1G>A
n.9095-1G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13776708T>ACA359209894DNAH5c.9106-2A>T (n.9106-2A>T)
c.9061-2A>T (n.9061-2A>T)
c.9101-2A>T (n.9101-2A>T)
n.9177-2A>T
c.9214-2A>T (n.9214-2A>T)
c.8119-2A>T (n.8119-2A>T)
c.9209-2A>T (n.9209-2A>T)
c.4303-2A>T (n.4303-2A>T)
c.3856-2A>T (n.3856-2A>T)
c.3193-2A>T (n.3193-2A>T)
c.7708-2A>T (n.7708-2A>T)
n.9100-2A>T
n.9095-2A>T
5g.13776708T>CCA359209906DNAH5c.9106-2A>G (n.9106-2A>G)
c.9061-2A>G (n.9061-2A>G)
c.9101-2A>G (n.9101-2A>G)
n.9177-2A>G
c.9214-2A>G (n.9214-2A>G)
c.8119-2A>G (n.8119-2A>G)
c.9209-2A>G (n.9209-2A>G)
c.4303-2A>G (n.4303-2A>G)
c.3856-2A>G (n.3856-2A>G)
c.3193-2A>G (n.3193-2A>G)
c.7708-2A>G (n.7708-2A>G)
n.9100-2A>G
n.9095-2A>G
5g.13776708T>GCA359209895DNAH5c.9106-2A>C (n.9106-2A>C)
c.9061-2A>C (n.9061-2A>C)
c.9101-2A>C (n.9101-2A>C)
n.9177-2A>C
c.9214-2A>C (n.9214-2A>C)
c.8119-2A>C (n.8119-2A>C)
c.9209-2A>C (n.9209-2A>C)
c.4303-2A>C (n.4303-2A>C)
c.3856-2A>C (n.3856-2A>C)
c.3193-2A>C (n.3193-2A>C)
c.7708-2A>C (n.7708-2A>C)
n.9100-2A>C
n.9095-2A>C
5g.13776709T>CCA557876524DNAH5c.9106-3A>G (n.9106-3A>G)
c.9061-3A>G (n.9061-3A>G)
c.9101-3A>G (n.9101-3A>G)
n.9177-3A>G
c.9214-3A>G (n.9214-3A>G)
c.8119-3A>G (n.8119-3A>G)
c.9209-3A>G (n.9209-3A>G)
c.4303-3A>G (n.4303-3A>G)
c.3856-3A>G (n.3856-3A>G)
c.3193-3A>G (n.3193-3A>G)
c.7708-3A>G (n.7708-3A>G)
n.9100-3A>G
n.9095-3A>G
 dbSNP gnomAD v2 gnomAD v4
5g.13776709T=CA1528435467DNAH5c.9106-3A= (n.9106-3A=)
c.9061-3A= (n.9061-3A=)
c.9101-3A= (n.9101-3A=)
n.9177-3A=
c.9214-3A= (n.9214-3A=)
c.8119-3A= (n.8119-3A=)
c.9209-3A= (n.9209-3A=)
c.4303-3A= (n.4303-3A=)
c.3856-3A= (n.3856-3A=)
c.3193-3A= (n.3193-3A=)
c.7708-3A= (n.7708-3A=)
n.9100-3A=
n.9095-3A=
5g.13776710A>GCA2563855321DNAH5c.9106-4T>C (n.9106-4T>C)
c.9061-4T>C (n.9061-4T>C)
c.9101-4T>C (n.9101-4T>C)
n.9177-4T>C
c.9214-4T>C (n.9214-4T>C)
c.8119-4T>C (n.8119-4T>C)
c.9209-4T>C (n.9209-4T>C)
c.4303-4T>C (n.4303-4T>C)
c.3856-4T>C (n.3856-4T>C)
c.3193-4T>C (n.3193-4T>C)
c.7708-4T>C (n.7708-4T>C)
n.9100-4T>C
n.9095-4T>C
5g.13776710A>TCA2499217612DNAH5c.9106-4T>A (n.9106-4T>A)
c.9061-4T>A (n.9061-4T>A)
c.9101-4T>A (n.9101-4T>A)
n.9177-4T>A
c.9214-4T>A (n.9214-4T>A)
c.8119-4T>A (n.8119-4T>A)
c.9209-4T>A (n.9209-4T>A)
c.4303-4T>A (n.4303-4T>A)
c.3856-4T>A (n.3856-4T>A)
c.3193-4T>A (n.3193-4T>A)
c.7708-4T>A (n.7708-4T>A)
n.9100-4T>A
n.9095-4T>A
 ClinVar dbSNP
5g.13776714delCA2580072021DNAH5c.9106-4del (n.9106-4del)
c.9061-4del (n.9061-4del)
c.9101-4del (n.9101-4del)
n.9177-4del
c.9214-4del (n.9214-4del)
c.8119-4del (n.8119-4del)
c.9209-4del (n.9209-4del)
c.4303-4del (n.4303-4del)
c.3856-4del (n.3856-4del)
c.3193-4del (n.3193-4del)
c.7708-4del (n.7708-4del)
n.9100-4del
n.9095-4del
 ClinVar
5g.13776712_13776714delCA2673268737DNAH5c.9106-6_9106-4del (n.9106-6_9106-4del)
c.9061-6_9061-4del (n.9061-6_9061-4del)
c.9101-6_9101-4del (n.9101-6_9101-4del)
n.9177-6_9177-4del
c.9214-6_9214-4del (n.9214-6_9214-4del)
c.8119-6_8119-4del (n.8119-6_8119-4del)
c.9209-6_9209-4del (n.9209-6_9209-4del)
c.4303-6_4303-4del (n.4303-6_4303-4del)
c.3856-6_3856-4del (n.3856-6_3856-4del)
c.3193-6_3193-4del (n.3193-6_3193-4del)
c.7708-6_7708-4del (n.7708-6_7708-4del)
n.9100-6_9100-4del
n.9095-6_9095-4del
 gnomAD v4
5g.13776711A>GCA2673268738DNAH5c.9106-5T>C (n.9106-5T>C)
c.9061-5T>C (n.9061-5T>C)
c.9101-5T>C (n.9101-5T>C)
n.9177-5T>C
c.9214-5T>C (n.9214-5T>C)
c.8119-5T>C (n.8119-5T>C)
c.9209-5T>C (n.9209-5T>C)
c.4303-5T>C (n.4303-5T>C)
c.3856-5T>C (n.3856-5T>C)
c.3193-5T>C (n.3193-5T>C)
c.7708-5T>C (n.7708-5T>C)
n.9100-5T>C
n.9095-5T>C
 gnomAD v4
5g.13776712A>GCA2580072022DNAH5c.9106-6T>C (n.9106-6T>C)
c.9061-6T>C (n.9061-6T>C)
c.9101-6T>C (n.9101-6T>C)
n.9177-6T>C
c.9214-6T>C (n.9214-6T>C)
c.8119-6T>C (n.8119-6T>C)
c.9209-6T>C (n.9209-6T>C)
c.4303-6T>C (n.4303-6T>C)
c.3856-6T>C (n.3856-6T>C)
c.3193-6T>C (n.3193-6T>C)
c.7708-6T>C (n.7708-6T>C)
n.9100-6T>C
n.9095-6T>C
 ClinVar
5g.13776714A>CCA2673268739DNAH5c.9106-8T>G (n.9106-8T>G)
c.9061-8T>G (n.9061-8T>G)
c.9101-8T>G (n.9101-8T>G)
n.9177-8T>G
c.9214-8T>G (n.9214-8T>G)
c.8119-8T>G (n.8119-8T>G)
c.9209-8T>G (n.9209-8T>G)
c.4303-8T>G (n.4303-8T>G)
c.3856-8T>G (n.3856-8T>G)
c.3193-8T>G (n.3193-8T>G)
c.7708-8T>G (n.7708-8T>G)
n.9100-8T>G
n.9095-8T>G
 gnomAD v4
5g.13776715G>ACA3202613DNAH5c.9106-9C>T (n.9106-9C>T)
c.9061-9C>T (n.9061-9C>T)
c.9101-9C>T (n.9101-9C>T)
n.9177-9C>T
c.9214-9C>T (n.9214-9C>T)
c.8119-9C>T (n.8119-9C>T)
c.9209-9C>T (n.9209-9C>T)
c.4303-9C>T (n.4303-9C>T)
c.3856-9C>T (n.3856-9C>T)
c.3193-9C>T (n.3193-9C>T)
c.7708-9C>T (n.7708-9C>T)
n.9100-9C>T
n.9095-9C>T
 dbSNP ExAC gnomAD v2
5g.13776715G>CCA2673268740DNAH5c.9106-9C>G (n.9106-9C>G)
c.9061-9C>G (n.9061-9C>G)
c.9101-9C>G (n.9101-9C>G)
n.9177-9C>G
c.9214-9C>G (n.9214-9C>G)
c.8119-9C>G (n.8119-9C>G)
c.9209-9C>G (n.9209-9C>G)
c.4303-9C>G (n.4303-9C>G)
c.3856-9C>G (n.3856-9C>G)
c.3193-9C>G (n.3193-9C>G)
c.7708-9C>G (n.7708-9C>G)
n.9100-9C>G
n.9095-9C>G
 gnomAD v4
5g.13776715G=CA1528435471DNAH5c.9106-9C= (n.9106-9C=)
c.9061-9C= (n.9061-9C=)
c.9101-9C= (n.9101-9C=)
n.9177-9C=
c.9214-9C= (n.9214-9C=)
c.8119-9C= (n.8119-9C=)
c.9209-9C= (n.9209-9C=)
c.4303-9C= (n.4303-9C=)
c.3856-9C= (n.3856-9C=)
c.3193-9C= (n.3193-9C=)
c.7708-9C= (n.7708-9C=)
n.9100-9C=
n.9095-9C=
5g.13776717A>GCA2673268741DNAH5c.9106-11T>C (n.9106-11T>C)
c.9061-11T>C (n.9061-11T>C)
c.9101-11T>C (n.9101-11T>C)
n.9177-11T>C
c.9214-11T>C (n.9214-11T>C)
c.8119-11T>C (n.8119-11T>C)
c.9209-11T>C (n.9209-11T>C)
c.4303-11T>C (n.4303-11T>C)
c.3856-11T>C (n.3856-11T>C)
c.3193-11T>C (n.3193-11T>C)
c.7708-11T>C (n.7708-11T>C)
n.9100-11T>C
n.9095-11T>C
 gnomAD v4
5g.13776720delCA2673268742DNAH5c.9106-14del (n.9106-14del)
c.9061-14del (n.9061-14del)
c.9101-14del (n.9101-14del)
n.9177-14del
c.9214-14del (n.9214-14del)
c.8119-14del (n.8119-14del)
c.9209-14del (n.9209-14del)
c.4303-14del (n.4303-14del)
c.3856-14del (n.3856-14del)
c.3193-14del (n.3193-14del)
c.7708-14del (n.7708-14del)
n.9100-14del
n.9095-14del
 gnomAD v4
5g.13776720A=CA1528435472DNAH5c.9106-14T= (n.9106-14T=)
c.9061-14T= (n.9061-14T=)
c.9101-14T= (n.9101-14T=)
n.9177-14T=
c.9214-14T= (n.9214-14T=)
c.8119-14T= (n.8119-14T=)
c.9209-14T= (n.9209-14T=)
c.4303-14T= (n.4303-14T=)
c.3856-14T= (n.3856-14T=)
c.3193-14T= (n.3193-14T=)
c.7708-14T= (n.7708-14T=)
n.9100-14T=
n.9095-14T=
5g.13776720A>GCA557876525DNAH5c.9106-14T>C (n.9106-14T>C)
c.9061-14T>C (n.9061-14T>C)
c.9101-14T>C (n.9101-14T>C)
n.9177-14T>C
c.9214-14T>C (n.9214-14T>C)
c.8119-14T>C (n.8119-14T>C)
c.9209-14T>C (n.9209-14T>C)
c.4303-14T>C (n.4303-14T>C)
c.3856-14T>C (n.3856-14T>C)
c.3193-14T>C (n.3193-14T>C)
c.7708-14T>C (n.7708-14T>C)
n.9100-14T>C
n.9095-14T>C
 dbSNP gnomAD v2 gnomAD v4
5g.13776721C=CA1528435474DNAH5c.9106-15G= (n.9106-15G=)
c.9061-15G= (n.9061-15G=)
c.9101-15G= (n.9101-15G=)
n.9177-15G=
c.9214-15G= (n.9214-15G=)
c.8119-15G= (n.8119-15G=)
c.9209-15G= (n.9209-15G=)
c.4303-15G= (n.4303-15G=)
c.3856-15G= (n.3856-15G=)
c.3193-15G= (n.3193-15G=)
c.7708-15G= (n.7708-15G=)
n.9100-15G=
n.9095-15G=
5g.13776721C>GCA557876526DNAH5c.9106-15G>C (n.9106-15G>C)
c.9061-15G>C (n.9061-15G>C)
c.9101-15G>C (n.9101-15G>C)
n.9177-15G>C
c.9214-15G>C (n.9214-15G>C)
c.8119-15G>C (n.8119-15G>C)
c.9209-15G>C (n.9209-15G>C)
c.4303-15G>C (n.4303-15G>C)
c.3856-15G>C (n.3856-15G>C)
c.3193-15G>C (n.3193-15G>C)
c.7708-15G>C (n.7708-15G>C)
n.9100-15G>C
n.9095-15G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13776721C>TCA3202614DNAH5c.9106-15G>A (n.9106-15G>A)
c.9061-15G>A (n.9061-15G>A)
c.9101-15G>A (n.9101-15G>A)
n.9177-15G>A
c.9214-15G>A (n.9214-15G>A)
c.8119-15G>A (n.8119-15G>A)
c.9209-15G>A (n.9209-15G>A)
c.4303-15G>A (n.4303-15G>A)
c.3856-15G>A (n.3856-15G>A)
c.3193-15G>A (n.3193-15G>A)
c.7708-15G>A (n.7708-15G>A)
n.9100-15G>A
n.9095-15G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13776722A=CA1528435476DNAH5c.9106-16T= (n.9106-16T=)
c.9061-16T= (n.9061-16T=)
c.9101-16T= (n.9101-16T=)
n.9177-16T=
c.9214-16T= (n.9214-16T=)
c.8119-16T= (n.8119-16T=)
c.9209-16T= (n.9209-16T=)
c.4303-16T= (n.4303-16T=)
c.3856-16T= (n.3856-16T=)
c.3193-16T= (n.3193-16T=)
c.7708-16T= (n.7708-16T=)
n.9100-16T=
n.9095-16T=
5g.13776722A>GCA1528435478DNAH5c.9106-16T>C (n.9106-16T>C)
c.9061-16T>C (n.9061-16T>C)
c.9101-16T>C (n.9101-16T>C)
n.9177-16T>C
c.9214-16T>C (n.9214-16T>C)
c.8119-16T>C (n.8119-16T>C)
c.9209-16T>C (n.9209-16T>C)
c.4303-16T>C (n.4303-16T>C)
c.3856-16T>C (n.3856-16T>C)
c.3193-16T>C (n.3193-16T>C)
c.7708-16T>C (n.7708-16T>C)
n.9100-16T>C
n.9095-16T>C
 dbSNP gnomAD v3 gnomAD v4
5g.13776723G>ACA2739274614DNAH5c.9106-17C>T (n.9106-17C>T)
c.9061-17C>T (n.9061-17C>T)
c.9101-17C>T (n.9101-17C>T)
n.9177-17C>T
c.9214-17C>T (n.9214-17C>T)
c.8119-17C>T (n.8119-17C>T)
c.9209-17C>T (n.9209-17C>T)
c.4303-17C>T (n.4303-17C>T)
c.3856-17C>T (n.3856-17C>T)
c.3193-17C>T (n.3193-17C>T)
c.7708-17C>T (n.7708-17C>T)
n.9100-17C>T
n.9095-17C>T
 ClinVar
5g.13776724G>ACA2673268743DNAH5c.9106-18C>T (n.9106-18C>T)
c.9061-18C>T (n.9061-18C>T)
c.9101-18C>T (n.9101-18C>T)
n.9177-18C>T
c.9214-18C>T (n.9214-18C>T)
c.8119-18C>T (n.8119-18C>T)
c.9209-18C>T (n.9209-18C>T)
c.4303-18C>T (n.4303-18C>T)
c.3856-18C>T (n.3856-18C>T)
c.3193-18C>T (n.3193-18C>T)
c.7708-18C>T (n.7708-18C>T)
n.9100-18C>T
n.9095-18C>T
 gnomAD v4
5g.13776726A>GCA2673268744DNAH5c.9106-20T>C (n.9106-20T>C)
c.9061-20T>C (n.9061-20T>C)
c.9101-20T>C (n.9101-20T>C)
n.9177-20T>C
c.9214-20T>C (n.9214-20T>C)
c.8119-20T>C (n.8119-20T>C)
c.9209-20T>C (n.9209-20T>C)
c.4303-20T>C (n.4303-20T>C)
c.3856-20T>C (n.3856-20T>C)
c.3193-20T>C (n.3193-20T>C)
c.7708-20T>C (n.7708-20T>C)
n.9100-20T>C
n.9095-20T>C
 ClinVar gnomAD v4
5g.13776727T>ACA2578270070DNAH5c.9106-21A>T (n.9106-21A>T)
c.9061-21A>T (n.9061-21A>T)
c.9101-21A>T (n.9101-21A>T)
n.9177-21A>T
c.9214-21A>T (n.9214-21A>T)
c.8119-21A>T (n.8119-21A>T)
c.9209-21A>T (n.9209-21A>T)
c.4303-21A>T (n.4303-21A>T)
c.3856-21A>T (n.3856-21A>T)
c.3193-21A>T (n.3193-21A>T)
c.7708-21A>T (n.7708-21A>T)
n.9100-21A>T
n.9095-21A>T
5g.13776728G>ACA2673268745DNAH5c.9106-22C>T (n.9106-22C>T)
c.9061-22C>T (n.9061-22C>T)
c.9101-22C>T (n.9101-22C>T)
n.9177-22C>T
c.9214-22C>T (n.9214-22C>T)
c.8119-22C>T (n.8119-22C>T)
c.9209-22C>T (n.9209-22C>T)
c.4303-22C>T (n.4303-22C>T)
c.3856-22C>T (n.3856-22C>T)
c.3193-22C>T (n.3193-22C>T)
c.7708-22C>T (n.7708-22C>T)
n.9100-22C>T
n.9095-22C>T
 gnomAD v4
5g.13776729C>ACA3202616DNAH5c.9106-23G>T (n.9106-23G>T)
c.9061-23G>T (n.9061-23G>T)
c.9101-23G>T (n.9101-23G>T)
n.9177-23G>T
c.9214-23G>T (n.9214-23G>T)
c.8119-23G>T (n.8119-23G>T)
c.9209-23G>T (n.9209-23G>T)
c.4303-23G>T (n.4303-23G>T)
c.3856-23G>T (n.3856-23G>T)
c.3193-23G>T (n.3193-23G>T)
c.7708-23G>T (n.7708-23G>T)
n.9100-23G>T
n.9095-23G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13776729C=CA1528435480DNAH5c.9106-23G= (n.9106-23G=)
c.9061-23G= (n.9061-23G=)
c.9101-23G= (n.9101-23G=)
n.9177-23G=
c.9214-23G= (n.9214-23G=)
c.8119-23G= (n.8119-23G=)
c.9209-23G= (n.9209-23G=)
c.4303-23G= (n.4303-23G=)
c.3856-23G= (n.3856-23G=)
c.3193-23G= (n.3193-23G=)
c.7708-23G= (n.7708-23G=)
n.9100-23G=
n.9095-23G=
5g.13776729C>TCA3202615DNAH5c.9106-23G>A (n.9106-23G>A)
c.9061-23G>A (n.9061-23G>A)
c.9101-23G>A (n.9101-23G>A)
n.9177-23G>A
c.9214-23G>A (n.9214-23G>A)
c.8119-23G>A (n.8119-23G>A)
c.9209-23G>A (n.9209-23G>A)
c.4303-23G>A (n.4303-23G>A)
c.3856-23G>A (n.3856-23G>A)
c.3193-23G>A (n.3193-23G>A)
c.7708-23G>A (n.7708-23G>A)
n.9100-23G>A
n.9095-23G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13776730A>TCA2765348314DNAH5c.9106-24T>A (n.9106-24T>A)
c.9061-24T>A (n.9061-24T>A)
c.9101-24T>A (n.9101-24T>A)
n.9177-24T>A
c.9214-24T>A (n.9214-24T>A)
c.8119-24T>A (n.8119-24T>A)
c.9209-24T>A (n.9209-24T>A)
c.4303-24T>A (n.4303-24T>A)
c.3856-24T>A (n.3856-24T>A)
c.3193-24T>A (n.3193-24T>A)
c.7708-24T>A (n.7708-24T>A)
n.9100-24T>A
n.9095-24T>A
5g.13776733T>CCA2673268746DNAH5c.9106-27A>G (n.9106-27A>G)
c.9061-27A>G (n.9061-27A>G)
c.9101-27A>G (n.9101-27A>G)
n.9177-27A>G
c.9214-27A>G (n.9214-27A>G)
c.8119-27A>G (n.8119-27A>G)
c.9209-27A>G (n.9209-27A>G)
c.4303-27A>G (n.4303-27A>G)
c.3856-27A>G (n.3856-27A>G)
c.3193-27A>G (n.3193-27A>G)
c.7708-27A>G (n.7708-27A>G)
n.9100-27A>G
n.9095-27A>G
 gnomAD v4
5g.13776733T>GCA2673268747DNAH5c.9106-27A>C (n.9106-27A>C)
c.9061-27A>C (n.9061-27A>C)
c.9101-27A>C (n.9101-27A>C)
n.9177-27A>C
c.9214-27A>C (n.9214-27A>C)
c.8119-27A>C (n.8119-27A>C)
c.9209-27A>C (n.9209-27A>C)
c.4303-27A>C (n.4303-27A>C)
c.3856-27A>C (n.3856-27A>C)
c.3193-27A>C (n.3193-27A>C)
c.7708-27A>C (n.7708-27A>C)
n.9100-27A>C
n.9095-27A>C
 gnomAD v4
5g.13776734T>GCA2673268748DNAH5c.9106-28A>C (n.9106-28A>C)
c.9061-28A>C (n.9061-28A>C)
c.9101-28A>C (n.9101-28A>C)
n.9177-28A>C
c.9214-28A>C (n.9214-28A>C)
c.8119-28A>C (n.8119-28A>C)
c.9209-28A>C (n.9209-28A>C)
c.4303-28A>C (n.4303-28A>C)
c.3856-28A>C (n.3856-28A>C)
c.3193-28A>C (n.3193-28A>C)
c.7708-28A>C (n.7708-28A>C)
n.9100-28A>C
n.9095-28A>C
 gnomAD v4
5g.13776736A=CA1528435484DNAH5c.9106-30T= (n.9106-30T=)
c.9061-30T= (n.9061-30T=)
c.9101-30T= (n.9101-30T=)
n.9177-30T=
c.9214-30T= (n.9214-30T=)
c.8119-30T= (n.8119-30T=)
c.9209-30T= (n.9209-30T=)
c.4303-30T= (n.4303-30T=)
c.3856-30T= (n.3856-30T=)
c.3193-30T= (n.3193-30T=)
c.7708-30T= (n.7708-30T=)
n.9100-30T=
n.9095-30T=
5g.13776736A>GCA3202617DNAH5c.9106-30T>C (n.9106-30T>C)
c.9061-30T>C (n.9061-30T>C)
c.9101-30T>C (n.9101-30T>C)
n.9177-30T>C
c.9214-30T>C (n.9214-30T>C)
c.8119-30T>C (n.8119-30T>C)
c.9209-30T>C (n.9209-30T>C)
c.4303-30T>C (n.4303-30T>C)
c.3856-30T>C (n.3856-30T>C)
c.3193-30T>C (n.3193-30T>C)
c.7708-30T>C (n.7708-30T>C)
n.9100-30T>C
n.9095-30T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13776737G>CCA2673268749DNAH5c.9106-31C>G (n.9106-31C>G)
c.9061-31C>G (n.9061-31C>G)
c.9101-31C>G (n.9101-31C>G)
n.9177-31C>G
c.9214-31C>G (n.9214-31C>G)
c.8119-31C>G (n.8119-31C>G)
c.9209-31C>G (n.9209-31C>G)
c.4303-31C>G (n.4303-31C>G)
c.3856-31C>G (n.3856-31C>G)
c.3193-31C>G (n.3193-31C>G)
c.7708-31C>G (n.7708-31C>G)
n.9100-31C>G
n.9095-31C>G
 gnomAD v4

Number of alleles fetched