Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.13717410G>ACA443254657DNAH5c.12610C>T (p.Leu4204=)
c.12565C>T (p.Leu4189=)
c.12718C>T (p.Leu4240=)
c.11623C>T (p.Leu3875=)
c.7807C>T (p.Leu2603=)
c.7360C>T (p.Leu2454=)
c.6697C>T (p.Leu2233=)
c.11212C>T (p.Leu3738=)
5g.13717410G>CCA359207292DNAH5c.12610C>G (p.Leu4204Val)
c.12565C>G (p.Leu4189Val)
c.12718C>G (p.Leu4240Val)
c.11623C>G (p.Leu3875Val)
c.7807C>G (p.Leu2603Val)
c.7360C>G (p.Leu2454Val)
c.6697C>G (p.Leu2233Val)
c.11212C>G (p.Leu3738Val)
5g.13717410G>TCA359207303DNAH5c.12610C>A (p.Leu4204Met)
c.12565C>A (p.Leu4189Met)
c.12718C>A (p.Leu4240Met)
c.11623C>A (p.Leu3875Met)
c.7807C>A (p.Leu2603Met)
c.7360C>A (p.Leu2454Met)
c.6697C>A (p.Leu2233Met)
c.11212C>A (p.Leu3738Met)
 COSMIC
5g.13717411G>ACA443254663DNAH5c.12609C>T (p.Ala4203=)
c.12564C>T (p.Ala4188=)
c.12717C>T (p.Ala4239=)
c.11622C>T (p.Ala3874=)
c.7806C>T (p.Ala2602=)
c.7359C>T (p.Ala2453=)
c.6696C>T (p.Ala2232=)
c.11211C>T (p.Ala3737=)
 ClinVar
5g.13717411G>CCA443254669DNAH5c.12609C>G (p.Ala4203=)
c.12564C>G (p.Ala4188=)
c.12717C>G (p.Ala4239=)
c.11622C>G (p.Ala3874=)
c.7806C>G (p.Ala2602=)
c.7359C>G (p.Ala2453=)
c.6696C>G (p.Ala2232=)
c.11211C>G (p.Ala3737=)
5g.13717411G>TCA443254665DNAH5c.12609C>A (p.Ala4203=)
c.12564C>A (p.Ala4188=)
c.12717C>A (p.Ala4239=)
c.11622C>A (p.Ala3874=)
c.7806C>A (p.Ala2602=)
c.7359C>A (p.Ala2453=)
c.6696C>A (p.Ala2232=)
c.11211C>A (p.Ala3737=)
5g.13717412G>ACA3201585DNAH5c.12608C>T (p.Ala4203Val)
c.12563C>T (p.Ala4188Val)
c.12716C>T (p.Ala4239Val)
c.11621C>T (p.Ala3874Val)
c.7805C>T (p.Ala2602Val)
c.7358C>T (p.Ala2453Val)
c.6695C>T (p.Ala2232Val)
c.11210C>T (p.Ala3737Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.13717412G>CCA359207314DNAH5c.12608C>G (p.Ala4203Gly)
c.12563C>G (p.Ala4188Gly)
c.12716C>G (p.Ala4239Gly)
c.11621C>G (p.Ala3874Gly)
c.7805C>G (p.Ala2602Gly)
c.7358C>G (p.Ala2453Gly)
c.6695C>G (p.Ala2232Gly)
c.11210C>G (p.Ala3737Gly)
5g.13717412G=CA1528407034DNAH5c.12608C= (p.Ala4203=)
c.12563C= (p.Ala4188=)
c.12716C= (p.Ala4239=)
c.11621C= (p.Ala3874=)
c.7805C= (p.Ala2602=)
c.7358C= (p.Ala2453=)
c.6695C= (p.Ala2232=)
c.11210C= (p.Ala3737=)
5g.13717412G>TCA359207311DNAH5c.12608C>A (p.Ala4203Asp)
c.12563C>A (p.Ala4188Asp)
c.12716C>A (p.Ala4239Asp)
c.11621C>A (p.Ala3874Asp)
c.7805C>A (p.Ala2602Asp)
c.7358C>A (p.Ala2453Asp)
c.6695C>A (p.Ala2232Asp)
c.11210C>A (p.Ala3737Asp)
5g.13717413C>ACA359207315DNAH5c.12607G>T (p.Ala4203Ser)
c.12562G>T (p.Ala4188Ser)
c.12715G>T (p.Ala4239Ser)
c.11620G>T (p.Ala3874Ser)
c.7804G>T (p.Ala2602Ser)
c.7357G>T (p.Ala2453Ser)
c.6694G>T (p.Ala2232Ser)
c.11209G>T (p.Ala3737Ser)
5g.13717413C>GCA359207316DNAH5c.12607G>C (p.Ala4203Pro)
c.12562G>C (p.Ala4188Pro)
c.12715G>C (p.Ala4239Pro)
c.11620G>C (p.Ala3874Pro)
c.7804G>C (p.Ala2602Pro)
c.7357G>C (p.Ala2453Pro)
c.6694G>C (p.Ala2232Pro)
c.11209G>C (p.Ala3737Pro)
5g.13717413C>TCA359207320DNAH5c.12607G>A (p.Ala4203Thr)
c.12562G>A (p.Ala4188Thr)
c.12715G>A (p.Ala4239Thr)
c.11620G>A (p.Ala3874Thr)
c.7804G>A (p.Ala2602Thr)
c.7357G>A (p.Ala2453Thr)
c.6694G>A (p.Ala2232Thr)
c.11209G>A (p.Ala3737Thr)
 gnomAD v4
5g.13717414A>CCA443254680DNAH5c.12606T>G (p.Gly4202=)
c.12561T>G (p.Gly4187=)
c.12714T>G (p.Gly4238=)
c.11619T>G (p.Gly3873=)
c.7803T>G (p.Gly2601=)
c.7356T>G (p.Gly2452=)
c.6693T>G (p.Gly2231=)
c.11208T>G (p.Gly3736=)
5g.13717414A>GCA443254681DNAH5c.12606T>C (p.Gly4202=)
c.12561T>C (p.Gly4187=)
c.12714T>C (p.Gly4238=)
c.11619T>C (p.Gly3873=)
c.7803T>C (p.Gly2601=)
c.7356T>C (p.Gly2452=)
c.6693T>C (p.Gly2231=)
c.11208T>C (p.Gly3736=)
5g.13717414A>TCA443254682DNAH5c.12606T>A (p.Gly4202=)
c.12561T>A (p.Gly4187=)
c.12714T>A (p.Gly4238=)
c.11619T>A (p.Gly3873=)
c.7803T>A (p.Gly2601=)
c.7356T>A (p.Gly2452=)
c.6693T>A (p.Gly2231=)
c.11208T>A (p.Gly3736=)
 gnomAD v4
5g.13717415C>ACA359207338DNAH5c.12605G>T (p.Gly4202Val)
c.12560G>T (p.Gly4187Val)
c.12713G>T (p.Gly4238Val)
c.11618G>T (p.Gly3873Val)
c.7802G>T (p.Gly2601Val)
c.7355G>T (p.Gly2452Val)
c.6692G>T (p.Gly2231Val)
c.11207G>T (p.Gly3736Val)
5g.13717415C>GCA359207345DNAH5c.12605G>C (p.Gly4202Ala)
c.12560G>C (p.Gly4187Ala)
c.12713G>C (p.Gly4238Ala)
c.11618G>C (p.Gly3873Ala)
c.7802G>C (p.Gly2601Ala)
c.7355G>C (p.Gly2452Ala)
c.6692G>C (p.Gly2231Ala)
c.11207G>C (p.Gly3736Ala)
5g.13717415C>TCA359207346DNAH5c.12605G>A (p.Gly4202Asp)
c.12560G>A (p.Gly4187Asp)
c.12713G>A (p.Gly4238Asp)
c.11618G>A (p.Gly3873Asp)
c.7802G>A (p.Gly2601Asp)
c.7355G>A (p.Gly2452Asp)
c.6692G>A (p.Gly2231Asp)
c.11207G>A (p.Gly3736Asp)
5g.13717416C>ACA359207352DNAH5c.12604G>T (p.Gly4202Cys)
c.12559G>T (p.Gly4187Cys)
c.12712G>T (p.Gly4238Cys)
c.11617G>T (p.Gly3873Cys)
c.7801G>T (p.Gly2601Cys)
c.7354G>T (p.Gly2452Cys)
c.6691G>T (p.Gly2231Cys)
c.11206G>T (p.Gly3736Cys)
5g.13717416C=CA1528407035DNAH5c.12604G= (p.Gly4202=)
c.12559G= (p.Gly4187=)
c.12712G= (p.Gly4238=)
c.11617G= (p.Gly3873=)
c.7801G= (p.Gly2601=)
c.7354G= (p.Gly2452=)
c.6691G= (p.Gly2231=)
c.11206G= (p.Gly3736=)
5g.13717416C>GCA359207361DNAH5c.12604G>C (p.Gly4202Arg)
c.12559G>C (p.Gly4187Arg)
c.12712G>C (p.Gly4238Arg)
c.11617G>C (p.Gly3873Arg)
c.7801G>C (p.Gly2601Arg)
c.7354G>C (p.Gly2452Arg)
c.6691G>C (p.Gly2231Arg)
c.11206G>C (p.Gly3736Arg)
5g.13717416C>TCA3201586DNAH5c.12604G>A (p.Gly4202Ser)
c.12559G>A (p.Gly4187Ser)
c.12712G>A (p.Gly4238Ser)
c.11617G>A (p.Gly3873Ser)
c.7801G>A (p.Gly2601Ser)
c.7354G>A (p.Gly2452Ser)
c.6691G>A (p.Gly2231Ser)
c.11206G>A (p.Gly3736Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13717417G>ACA3201587DNAH5c.12603C>T (p.Phe4201=)
c.12558C>T (p.Phe4186=)
c.12711C>T (p.Phe4237=)
c.11616C>T (p.Phe3872=)
c.7800C>T (p.Phe2600=)
c.7353C>T (p.Phe2451=)
c.6690C>T (p.Phe2230=)
c.11205C>T (p.Phe3735=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.13717417G>CCA359207376DNAH5c.12603C>G (p.Phe4201Leu)
c.12558C>G (p.Phe4186Leu)
c.12711C>G (p.Phe4237Leu)
c.11616C>G (p.Phe3872Leu)
c.7800C>G (p.Phe2600Leu)
c.7353C>G (p.Phe2451Leu)
c.6690C>G (p.Phe2230Leu)
c.11205C>G (p.Phe3735Leu)
5g.13717417G=CA1528407036DNAH5c.12603C= (p.Phe4201=)
c.12558C= (p.Phe4186=)
c.12711C= (p.Phe4237=)
c.11616C= (p.Phe3872=)
c.7800C= (p.Phe2600=)
c.7353C= (p.Phe2451=)
c.6690C= (p.Phe2230=)
c.11205C= (p.Phe3735=)
5g.13717417G>TCA359207379DNAH5c.12603C>A (p.Phe4201Leu)
c.12558C>A (p.Phe4186Leu)
c.12711C>A (p.Phe4237Leu)
c.11616C>A (p.Phe3872Leu)
c.7800C>A (p.Phe2600Leu)
c.7353C>A (p.Phe2451Leu)
c.6690C>A (p.Phe2230Leu)
c.11205C>A (p.Phe3735Leu)
5g.13717418A>CCA359207383DNAH5c.12602T>G (p.Phe4201Cys)
c.12557T>G (p.Phe4186Cys)
c.12710T>G (p.Phe4237Cys)
c.11615T>G (p.Phe3872Cys)
c.7799T>G (p.Phe2600Cys)
c.7352T>G (p.Phe2451Cys)
c.6689T>G (p.Phe2230Cys)
c.11204T>G (p.Phe3735Cys)
5g.13717418A>GCA359207391DNAH5c.12602T>C (p.Phe4201Ser)
c.12557T>C (p.Phe4186Ser)
c.12710T>C (p.Phe4237Ser)
c.11615T>C (p.Phe3872Ser)
c.7799T>C (p.Phe2600Ser)
c.7352T>C (p.Phe2451Ser)
c.6689T>C (p.Phe2230Ser)
c.11204T>C (p.Phe3735Ser)
5g.13717418A>TCA359207394DNAH5c.12602T>A (p.Phe4201Tyr)
c.12557T>A (p.Phe4186Tyr)
c.12710T>A (p.Phe4237Tyr)
c.11615T>A (p.Phe3872Tyr)
c.7799T>A (p.Phe2600Tyr)
c.7352T>A (p.Phe2451Tyr)
c.6689T>A (p.Phe2230Tyr)
c.11204T>A (p.Phe3735Tyr)
5g.13717419A>CCA359207413DNAH5c.12601T>G (p.Phe4201Val)
c.12556T>G (p.Phe4186Val)
c.12709T>G (p.Phe4237Val)
c.11614T>G (p.Phe3872Val)
c.7798T>G (p.Phe2600Val)
c.7351T>G (p.Phe2451Val)
c.6688T>G (p.Phe2230Val)
c.11203T>G (p.Phe3735Val)
5g.13717419A>GCA359207414DNAH5c.12601T>C (p.Phe4201Leu)
c.12556T>C (p.Phe4186Leu)
c.12709T>C (p.Phe4237Leu)
c.11614T>C (p.Phe3872Leu)
c.7798T>C (p.Phe2600Leu)
c.7351T>C (p.Phe2451Leu)
c.6688T>C (p.Phe2230Leu)
c.11203T>C (p.Phe3735Leu)
 ClinVar
5g.13717419A>TCA359207416DNAH5c.12601T>A (p.Phe4201Ile)
c.12556T>A (p.Phe4186Ile)
c.12709T>A (p.Phe4237Ile)
c.11614T>A (p.Phe3872Ile)
c.7798T>A (p.Phe2600Ile)
c.7351T>A (p.Phe2451Ile)
c.6688T>A (p.Phe2230Ile)
c.11203T>A (p.Phe3735Ile)
5g.13717420C>ACA359207420DNAH5c.12600G>T (p.Lys4200Asn)
c.12555G>T (p.Lys4185Asn)
c.12708G>T (p.Lys4236Asn)
c.11613G>T (p.Lys3871Asn)
c.7797G>T (p.Lys2599Asn)
c.7350G>T (p.Lys2450Asn)
c.6687G>T (p.Lys2229Asn)
c.11202G>T (p.Lys3734Asn)
5g.13717420C=CA1528407037DNAH5c.12600G= (p.Lys4200=)
c.12555G= (p.Lys4185=)
c.12708G= (p.Lys4236=)
c.11613G= (p.Lys3871=)
c.7797G= (p.Lys2599=)
c.7350G= (p.Lys2450=)
c.6687G= (p.Lys2229=)
c.11202G= (p.Lys3734=)
5g.13717420C>GCA359207430DNAH5c.12600G>C (p.Lys4200Asn)
c.12555G>C (p.Lys4185Asn)
c.12708G>C (p.Lys4236Asn)
c.11613G>C (p.Lys3871Asn)
c.7797G>C (p.Lys2599Asn)
c.7350G>C (p.Lys2450Asn)
c.6687G>C (p.Lys2229Asn)
c.11202G>C (p.Lys3734Asn)
5g.13717420C>TCA443254685DNAH5c.12600G>A (p.Lys4200=)
c.12555G>A (p.Lys4185=)
c.12708G>A (p.Lys4236=)
c.11613G>A (p.Lys3871=)
c.7797G>A (p.Lys2599=)
c.7350G>A (p.Lys2450=)
c.6687G>A (p.Lys2229=)
c.11202G>A (p.Lys3734=)
 ClinVar dbSNP gnomAD v4
5g.13717421T>ACA359207454DNAH5c.12599A>T (p.Lys4200Met)
c.12554A>T (p.Lys4185Met)
c.12707A>T (p.Lys4236Met)
c.11612A>T (p.Lys3871Met)
c.7796A>T (p.Lys2599Met)
c.7349A>T (p.Lys2450Met)
c.6686A>T (p.Lys2229Met)
c.11201A>T (p.Lys3734Met)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
5g.13717421T>CCA359207449DNAH5c.12599A>G (p.Lys4200Arg)
c.12554A>G (p.Lys4185Arg)
c.12707A>G (p.Lys4236Arg)
c.11612A>G (p.Lys3871Arg)
c.7796A>G (p.Lys2599Arg)
c.7349A>G (p.Lys2450Arg)
c.6686A>G (p.Lys2229Arg)
c.11201A>G (p.Lys3734Arg)
 COSMIC
5g.13717421T>GCA359207436DNAH5c.12599A>C (p.Lys4200Thr)
c.12554A>C (p.Lys4185Thr)
c.12707A>C (p.Lys4236Thr)
c.11612A>C (p.Lys3871Thr)
c.7796A>C (p.Lys2599Thr)
c.7349A>C (p.Lys2450Thr)
c.6686A>C (p.Lys2229Thr)
c.11201A>C (p.Lys3734Thr)
 COSMIC
5g.13717422dupCA16611796DNAH5c.12599dup (p.Phe4201ValfsTer13)
c.12554dup (p.Phe4186ValfsTer13)
c.12707dup (p.Phe4237ValfsTer13)
c.11612dup (p.Phe3872ValfsTer13)
c.7796dup (p.Phe2600ValfsTer13)
c.7349dup (p.Phe2451ValfsTer13)
c.6686dup (p.Phe2230ValfsTer13)
c.11201dup (p.Phe3735ValfsTer13)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.13717422T>ACA359207461DNAH5c.12598A>T (p.Lys4200Ter)
c.12553A>T (p.Lys4185Ter)
c.12706A>T (p.Lys4236Ter)
c.11611A>T (p.Lys3871Ter)
c.7795A>T (p.Lys2599Ter)
c.7348A>T (p.Lys2450Ter)
c.6685A>T (p.Lys2229Ter)
c.11200A>T (p.Lys3734Ter)
5g.13717422T>CCA359207493DNAH5c.12598A>G (p.Lys4200Glu)
c.12553A>G (p.Lys4185Glu)
c.12706A>G (p.Lys4236Glu)
c.11611A>G (p.Lys3871Glu)
c.7795A>G (p.Lys2599Glu)
c.7348A>G (p.Lys2450Glu)
c.6685A>G (p.Lys2229Glu)
c.11200A>G (p.Lys3734Glu)
5g.13717422T>GCA359207469DNAH5c.12598A>C (p.Lys4200Gln)
c.12553A>C (p.Lys4185Gln)
c.12706A>C (p.Lys4236Gln)
c.11611A>C (p.Lys3871Gln)
c.7795A>C (p.Lys2599Gln)
c.7348A>C (p.Lys2450Gln)
c.6685A>C (p.Lys2229Gln)
c.11200A>C (p.Lys3734Gln)
5g.13717423G>ACA443254689DNAH5c.12597C>T (p.Arg4199=)
c.12552C>T (p.Arg4184=)
c.12705C>T (p.Arg4235=)
c.11610C>T (p.Arg3870=)
c.7794C>T (p.Arg2598=)
c.7347C>T (p.Arg2449=)
c.6684C>T (p.Arg2228=)
c.11199C>T (p.Arg3733=)
5g.13717423G>CCA443254690DNAH5c.12597C>G (p.Arg4199=)
c.12552C>G (p.Arg4184=)
c.12705C>G (p.Arg4235=)
c.11610C>G (p.Arg3870=)
c.7794C>G (p.Arg2598=)
c.7347C>G (p.Arg2449=)
c.6684C>G (p.Arg2228=)
c.11199C>G (p.Arg3733=)
5g.13717423G>TCA443254691DNAH5c.12597C>A (p.Arg4199=)
c.12552C>A (p.Arg4184=)
c.12705C>A (p.Arg4235=)
c.11610C>A (p.Arg3870=)
c.7794C>A (p.Arg2598=)
c.7347C>A (p.Arg2449=)
c.6684C>A (p.Arg2228=)
c.11199C>A (p.Arg3733=)
5g.13717424C>ACA359207498DNAH5c.12596G>T (p.Arg4199Leu)
c.12551G>T (p.Arg4184Leu)
c.12704G>T (p.Arg4235Leu)
c.11609G>T (p.Arg3870Leu)
c.7793G>T (p.Arg2598Leu)
c.7346G>T (p.Arg2449Leu)
c.6683G>T (p.Arg2228Leu)
c.11198G>T (p.Arg3733Leu)
5g.13717424C=CA1528407038DNAH5c.12596G= (p.Arg4199=)
c.12551G= (p.Arg4184=)
c.12704G= (p.Arg4235=)
c.11609G= (p.Arg3870=)
c.7793G= (p.Arg2598=)
c.7346G= (p.Arg2449=)
c.6683G= (p.Arg2228=)
c.11198G= (p.Arg3733=)
5g.13717424C>GCA113919241DNAH5c.12596G>C (p.Arg4199Pro)
c.12551G>C (p.Arg4184Pro)
c.12704G>C (p.Arg4235Pro)
c.11609G>C (p.Arg3870Pro)
c.7793G>C (p.Arg2598Pro)
c.7346G>C (p.Arg2449Pro)
c.6683G>C (p.Arg2228Pro)
c.11198G>C (p.Arg3733Pro)
 dbSNP

Number of alleles fetched