Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.13830658G>ACA3203513DNAH5n.931C>T
c.6000C>T (p.Tyr2000=)
c.5955C>T (p.Tyr1985=)
n.6207C>T
c.6108C>T (p.Tyr2036=)
c.5013C>T (p.Tyr1671=)
c.1197C>T (p.Tyr399=)
c.750C>T (p.Tyr250=)
c.87C>T (p.Tyr29=)
c.4602C>T (p.Tyr1534=)
n.6125C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13830658G>CCA359202542DNAH5n.931C>G
c.6000C>G (p.Tyr2000Ter)
c.5955C>G (p.Tyr1985Ter)
n.6207C>G
c.6108C>G (p.Tyr2036Ter)
c.5013C>G (p.Tyr1671Ter)
c.1197C>G (p.Tyr399Ter)
c.750C>G (p.Tyr250Ter)
c.87C>G (p.Tyr29Ter)
c.4602C>G (p.Tyr1534Ter)
n.6125C>G
5g.13830658G=CA1528458769DNAH5n.931C=
c.6000C= (p.Tyr2000=)
c.5955C= (p.Tyr1985=)
n.6207C=
c.6108C= (p.Tyr2036=)
c.5013C= (p.Tyr1671=)
c.1197C= (p.Tyr399=)
c.750C= (p.Tyr250=)
c.87C= (p.Tyr29=)
c.4602C= (p.Tyr1534=)
n.6125C=
5g.13830658G>TCA359202544DNAH5n.931C>A
c.6000C>A (p.Tyr2000Ter)
c.5955C>A (p.Tyr1985Ter)
n.6207C>A
c.6108C>A (p.Tyr2036Ter)
c.5013C>A (p.Tyr1671Ter)
c.1197C>A (p.Tyr399Ter)
c.750C>A (p.Tyr250Ter)
c.87C>A (p.Tyr29Ter)
c.4602C>A (p.Tyr1534Ter)
n.6125C>A
 ClinVar dbSNP
5g.13830659T>ACA359202556DNAH5n.930A>T
c.5999A>T (p.Tyr2000Phe)
c.5954A>T (p.Tyr1985Phe)
n.6206A>T
c.6107A>T (p.Tyr2036Phe)
c.5012A>T (p.Tyr1671Phe)
c.1196A>T (p.Tyr399Phe)
c.749A>T (p.Tyr250Phe)
c.86A>T (p.Tyr29Phe)
c.4601A>T (p.Tyr1534Phe)
n.6124A>T
5g.13830659T>CCA359202549DNAH5n.930A>G
c.5999A>G (p.Tyr2000Cys)
c.5954A>G (p.Tyr1985Cys)
n.6206A>G
c.6107A>G (p.Tyr2036Cys)
c.5012A>G (p.Tyr1671Cys)
c.1196A>G (p.Tyr399Cys)
c.749A>G (p.Tyr250Cys)
c.86A>G (p.Tyr29Cys)
c.4601A>G (p.Tyr1534Cys)
n.6124A>G
5g.13830659T>GCA359202554DNAH5n.930A>C
c.5999A>C (p.Tyr2000Ser)
c.5954A>C (p.Tyr1985Ser)
n.6206A>C
c.6107A>C (p.Tyr2036Ser)
c.5012A>C (p.Tyr1671Ser)
c.1196A>C (p.Tyr399Ser)
c.749A>C (p.Tyr250Ser)
c.86A>C (p.Tyr29Ser)
c.4601A>C (p.Tyr1534Ser)
n.6124A>C
5g.13830659dupCA804510871DNAH5n.930dup
c.5999dup (p.Tyr2000Ter)
c.5954dup (p.Tyr1985Ter)
n.6206dup
c.6107dup (p.Tyr2036Ter)
c.5012dup (p.Tyr1671Ter)
c.1196dup (p.Tyr399Ter)
c.749dup (p.Tyr250Ter)
c.86dup (p.Tyr29Ter)
c.4601dup (p.Tyr1534Ter)
n.6124dup
 ClinVar dbSNP
5g.13830660A>CCA359202558DNAH5n.929T>G
c.5998T>G (p.Tyr2000Asp)
c.5953T>G (p.Tyr1985Asp)
n.6205T>G
c.6106T>G (p.Tyr2036Asp)
c.5011T>G (p.Tyr1671Asp)
c.1195T>G (p.Tyr399Asp)
c.748T>G (p.Tyr250Asp)
c.85T>G (p.Tyr29Asp)
c.4600T>G (p.Tyr1534Asp)
n.6123T>G
 gnomAD v4
5g.13830660A>GCA359202559DNAH5n.929T>C
c.5998T>C (p.Tyr2000His)
c.5953T>C (p.Tyr1985His)
n.6205T>C
c.6106T>C (p.Tyr2036His)
c.5011T>C (p.Tyr1671His)
c.1195T>C (p.Tyr399His)
c.748T>C (p.Tyr250His)
c.85T>C (p.Tyr29His)
c.4600T>C (p.Tyr1534His)
n.6123T>C
5g.13830660A>TCA359202561DNAH5n.929T>A
c.5998T>A (p.Tyr2000Asn)
c.5953T>A (p.Tyr1985Asn)
n.6205T>A
c.6106T>A (p.Tyr2036Asn)
c.5011T>A (p.Tyr1671Asn)
c.1195T>A (p.Tyr399Asn)
c.748T>A (p.Tyr250Asn)
c.85T>A (p.Tyr29Asn)
c.4600T>A (p.Tyr1534Asn)
n.6123T>A
5g.13830662_13830673delCA2580072048DNAH5n.918_929del
c.5987_5998del (p.Cys1996_Lys1999del)
c.5942_5953del (p.Cys1981_Lys1984del)
n.6194_6205del
c.6095_6106del (p.Cys2032_Lys2035del)
c.5000_5011del (p.Cys1667_Lys1670del)
c.1184_1195del (p.Cys395_Lys398del)
c.737_748del (p.Cys246_Lys249del)
c.74_85del (p.Cys25_Lys28del)
c.4589_4600del (p.Cys1530_Lys1533del)
n.6112_6123del
 ClinVar
5g.13830661T>ACA359202564DNAH5n.928A>T
c.5997A>T (p.Lys1999Asn)
c.5952A>T (p.Lys1984Asn)
n.6204A>T
c.6105A>T (p.Lys2035Asn)
c.5010A>T (p.Lys1670Asn)
c.1194A>T (p.Lys398Asn)
c.747A>T (p.Lys249Asn)
c.84A>T (p.Lys28Asn)
c.4599A>T (p.Lys1533Asn)
n.6122A>T
 dbSNP
5g.13830661T>CCA443252945DNAH5n.928A>G
c.5997A>G (p.Lys1999=)
c.5952A>G (p.Lys1984=)
n.6204A>G
c.6105A>G (p.Lys2035=)
c.5010A>G (p.Lys1670=)
c.1194A>G (p.Lys398=)
c.747A>G (p.Lys249=)
c.84A>G (p.Lys28=)
c.4599A>G (p.Lys1533=)
n.6122A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13830661T>GCA359202566DNAH5n.928A>C
c.5997A>C (p.Lys1999Asn)
c.5952A>C (p.Lys1984Asn)
n.6204A>C
c.6105A>C (p.Lys2035Asn)
c.5010A>C (p.Lys1670Asn)
c.1194A>C (p.Lys398Asn)
c.747A>C (p.Lys249Asn)
c.84A>C (p.Lys28Asn)
c.4599A>C (p.Lys1533Asn)
n.6122A>C
5g.13830661T=CA1528458770DNAH5n.928A=
c.5997A= (p.Lys1999=)
c.5952A= (p.Lys1984=)
n.6204A=
c.6105A= (p.Lys2035=)
c.5010A= (p.Lys1670=)
c.1194A= (p.Lys398=)
c.747A= (p.Lys249=)
c.84A= (p.Lys28=)
c.4599A= (p.Lys1533=)
n.6122A=
5g.13830662T>ACA359202576DNAH5n.927A>T
c.5996A>T (p.Lys1999Ile)
c.5951A>T (p.Lys1984Ile)
n.6203A>T
c.6104A>T (p.Lys2035Ile)
c.5009A>T (p.Lys1670Ile)
c.1193A>T (p.Lys398Ile)
c.746A>T (p.Lys249Ile)
c.83A>T (p.Lys28Ile)
c.4598A>T (p.Lys1533Ile)
n.6121A>T
5g.13830662T>CCA359202569DNAH5n.927A>G
c.5996A>G (p.Lys1999Arg)
c.5951A>G (p.Lys1984Arg)
n.6203A>G
c.6104A>G (p.Lys2035Arg)
c.5009A>G (p.Lys1670Arg)
c.1193A>G (p.Lys398Arg)
c.746A>G (p.Lys249Arg)
c.83A>G (p.Lys28Arg)
c.4598A>G (p.Lys1533Arg)
n.6121A>G
 dbSNP
5g.13830662T>GCA359202572DNAH5n.927A>C
c.5996A>C (p.Lys1999Thr)
c.5951A>C (p.Lys1984Thr)
n.6203A>C
c.6104A>C (p.Lys2035Thr)
c.5009A>C (p.Lys1670Thr)
c.1193A>C (p.Lys398Thr)
c.746A>C (p.Lys249Thr)
c.83A>C (p.Lys28Thr)
c.4598A>C (p.Lys1533Thr)
n.6121A>C
5g.13830662T=CA1528458771DNAH5n.927A=
c.5996A= (p.Lys1999=)
c.5951A= (p.Lys1984=)
n.6203A=
c.6104A= (p.Lys2035=)
c.5009A= (p.Lys1670=)
c.1193A= (p.Lys398=)
c.746A= (p.Lys249=)
c.83A= (p.Lys28=)
c.4598A= (p.Lys1533=)
n.6121A=
5g.13830663T>ACA359202578DNAH5n.926A>T
c.5995A>T (p.Lys1999Ter)
c.5950A>T (p.Lys1984Ter)
n.6202A>T
c.6103A>T (p.Lys2035Ter)
c.5008A>T (p.Lys1670Ter)
c.1192A>T (p.Lys398Ter)
c.745A>T (p.Lys249Ter)
c.82A>T (p.Lys28Ter)
c.4597A>T (p.Lys1533Ter)
n.6120A>T
5g.13830663T>CCA359202581DNAH5n.926A>G
c.5995A>G (p.Lys1999Glu)
c.5950A>G (p.Lys1984Glu)
n.6202A>G
c.6103A>G (p.Lys2035Glu)
c.5008A>G (p.Lys1670Glu)
c.1192A>G (p.Lys398Glu)
c.745A>G (p.Lys249Glu)
c.82A>G (p.Lys28Glu)
c.4597A>G (p.Lys1533Glu)
n.6120A>G
5g.13830663T>GCA359202583DNAH5n.926A>C
c.5995A>C (p.Lys1999Gln)
c.5950A>C (p.Lys1984Gln)
n.6202A>C
c.6103A>C (p.Lys2035Gln)
c.5008A>C (p.Lys1670Gln)
c.1192A>C (p.Lys398Gln)
c.745A>C (p.Lys249Gln)
c.82A>C (p.Lys28Gln)
c.4597A>C (p.Lys1533Gln)
n.6120A>C
5g.13830664C>ACA443252953DNAH5n.925G>T
c.5994G>T (p.Gly1998=)
c.5949G>T (p.Gly1983=)
n.6201G>T
c.6102G>T (p.Gly2034=)
c.5007G>T (p.Gly1669=)
c.1191G>T (p.Gly397=)
c.744G>T (p.Gly248=)
c.81G>T (p.Gly27=)
c.4596G>T (p.Gly1532=)
n.6119G>T
5g.13830664C=CA1528458772DNAH5n.925G=
c.5994G= (p.Gly1998=)
c.5949G= (p.Gly1983=)
n.6201G=
c.6102G= (p.Gly2034=)
c.5007G= (p.Gly1669=)
c.1191G= (p.Gly397=)
c.744G= (p.Gly248=)
c.81G= (p.Gly27=)
c.4596G= (p.Gly1532=)
n.6119G=
5g.13830664C>GCA443252957DNAH5n.925G>C
c.5994G>C (p.Gly1998=)
c.5949G>C (p.Gly1983=)
n.6201G>C
c.6102G>C (p.Gly2034=)
c.5007G>C (p.Gly1669=)
c.1191G>C (p.Gly397=)
c.744G>C (p.Gly248=)
c.81G>C (p.Gly27=)
c.4596G>C (p.Gly1532=)
n.6119G>C
 ClinVar dbSNP gnomAD v4
5g.13830664C>TCA443252955DNAH5n.925G>A
c.5994G>A (p.Gly1998=)
c.5949G>A (p.Gly1983=)
n.6201G>A
c.6102G>A (p.Gly2034=)
c.5007G>A (p.Gly1669=)
c.1191G>A (p.Gly397=)
c.744G>A (p.Gly248=)
c.81G>A (p.Gly27=)
c.4596G>A (p.Gly1532=)
n.6119G>A
 gnomAD v4 COSMIC
5g.13830665C>ACA359202585DNAH5n.924G>T
c.5993G>T (p.Gly1998Val)
c.5948G>T (p.Gly1983Val)
n.6200G>T
c.6101G>T (p.Gly2034Val)
c.5006G>T (p.Gly1669Val)
c.1190G>T (p.Gly397Val)
c.743G>T (p.Gly248Val)
c.80G>T (p.Gly27Val)
c.4595G>T (p.Gly1532Val)
n.6118G>T
5g.13830665C>GCA359202587DNAH5n.924G>C
c.5993G>C (p.Gly1998Ala)
c.5948G>C (p.Gly1983Ala)
n.6200G>C
c.6101G>C (p.Gly2034Ala)
c.5006G>C (p.Gly1669Ala)
c.1190G>C (p.Gly397Ala)
c.743G>C (p.Gly248Ala)
c.80G>C (p.Gly27Ala)
c.4595G>C (p.Gly1532Ala)
n.6118G>C
5g.13830665C>TCA359202589DNAH5n.924G>A
c.5993G>A (p.Gly1998Glu)
c.5948G>A (p.Gly1983Glu)
n.6200G>A
c.6101G>A (p.Gly2034Glu)
c.5006G>A (p.Gly1669Glu)
c.1190G>A (p.Gly397Glu)
c.743G>A (p.Gly248Glu)
c.80G>A (p.Gly27Glu)
c.4595G>A (p.Gly1532Glu)
n.6118G>A
 gnomAD v4 COSMIC
5g.13830666C>ACA359202592DNAH5n.923G>T
c.5992G>T (p.Gly1998Trp)
c.5947G>T (p.Gly1983Trp)
n.6199G>T
c.6100G>T (p.Gly2034Trp)
c.5005G>T (p.Gly1669Trp)
c.1189G>T (p.Gly397Trp)
c.742G>T (p.Gly248Trp)
c.79G>T (p.Gly27Trp)
c.4594G>T (p.Gly1532Trp)
n.6117G>T
5g.13830666C=CA1528458773DNAH5n.923G=
c.5992G= (p.Gly1998=)
c.5947G= (p.Gly1983=)
n.6199G=
c.6100G= (p.Gly2034=)
c.5005G= (p.Gly1669=)
c.1189G= (p.Gly397=)
c.742G= (p.Gly248=)
c.79G= (p.Gly27=)
c.4594G= (p.Gly1532=)
n.6117G=
5g.13830666C>GCA359202595DNAH5n.923G>C
c.5992G>C (p.Gly1998Arg)
c.5947G>C (p.Gly1983Arg)
n.6199G>C
c.6100G>C (p.Gly2034Arg)
c.5005G>C (p.Gly1669Arg)
c.1189G>C (p.Gly397Arg)
c.742G>C (p.Gly248Arg)
c.79G>C (p.Gly27Arg)
c.4594G>C (p.Gly1532Arg)
n.6117G>C
5g.13830666C>TCA359202599DNAH5n.923G>A
c.5992G>A (p.Gly1998Arg)
c.5947G>A (p.Gly1983Arg)
n.6199G>A
c.6100G>A (p.Gly2034Arg)
c.5005G>A (p.Gly1669Arg)
c.1189G>A (p.Gly397Arg)
c.742G>A (p.Gly248Arg)
c.79G>A (p.Gly27Arg)
c.4594G>A (p.Gly1532Arg)
n.6117G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13830667G>ACA3203514DNAH5n.922C>T
c.5991C>T (p.Leu1997=)
c.5946C>T (p.Leu1982=)
n.6198C>T
c.6099C>T (p.Leu2033=)
c.5004C>T (p.Leu1668=)
c.1188C>T (p.Leu396=)
c.741C>T (p.Leu247=)
c.78C>T (p.Leu26=)
c.4593C>T (p.Leu1531=)
n.6116C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13830667G>CCA443252966DNAH5n.922C>G
c.5991C>G (p.Leu1997=)
c.5946C>G (p.Leu1982=)
n.6198C>G
c.6099C>G (p.Leu2033=)
c.5004C>G (p.Leu1668=)
c.1188C>G (p.Leu396=)
c.741C>G (p.Leu247=)
c.78C>G (p.Leu26=)
c.4593C>G (p.Leu1531=)
n.6116C>G
 gnomAD v4
5g.13830667G=CA1528458774DNAH5n.922C=
c.5991C= (p.Leu1997=)
c.5946C= (p.Leu1982=)
n.6198C=
c.6099C= (p.Leu2033=)
c.5004C= (p.Leu1668=)
c.1188C= (p.Leu396=)
c.741C= (p.Leu247=)
c.78C= (p.Leu26=)
c.4593C= (p.Leu1531=)
n.6116C=
5g.13830667G>TCA443252968DNAH5n.922C>A
c.5991C>A (p.Leu1997=)
c.5946C>A (p.Leu1982=)
n.6198C>A
c.6099C>A (p.Leu2033=)
c.5004C>A (p.Leu1668=)
c.1188C>A (p.Leu396=)
c.741C>A (p.Leu247=)
c.78C>A (p.Leu26=)
c.4593C>A (p.Leu1531=)
n.6116C>A
5g.13830668A>CCA359202608DNAH5n.921T>G
c.5990T>G (p.Leu1997Arg)
c.5945T>G (p.Leu1982Arg)
n.6197T>G
c.6098T>G (p.Leu2033Arg)
c.5003T>G (p.Leu1668Arg)
c.1187T>G (p.Leu396Arg)
c.740T>G (p.Leu247Arg)
c.77T>G (p.Leu26Arg)
c.4592T>G (p.Leu1531Arg)
n.6115T>G
5g.13830668A>GCA359202610DNAH5n.921T>C
c.5990T>C (p.Leu1997Pro)
c.5945T>C (p.Leu1982Pro)
n.6197T>C
c.6098T>C (p.Leu2033Pro)
c.5003T>C (p.Leu1668Pro)
c.1187T>C (p.Leu396Pro)
c.740T>C (p.Leu247Pro)
c.77T>C (p.Leu26Pro)
c.4592T>C (p.Leu1531Pro)
n.6115T>C
5g.13830668A>TCA359202614DNAH5n.921T>A
c.5990T>A (p.Leu1997His)
c.5945T>A (p.Leu1982His)
n.6197T>A
c.6098T>A (p.Leu2033His)
c.5003T>A (p.Leu1668His)
c.1187T>A (p.Leu396His)
c.740T>A (p.Leu247His)
c.77T>A (p.Leu26His)
c.4592T>A (p.Leu1531His)
n.6115T>A
5g.13830669G>ACA359202621DNAH5n.920C>T
c.5989C>T (p.Leu1997Phe)
c.5944C>T (p.Leu1982Phe)
n.6196C>T
c.6097C>T (p.Leu2033Phe)
c.5002C>T (p.Leu1668Phe)
c.1186C>T (p.Leu396Phe)
c.739C>T (p.Leu247Phe)
c.76C>T (p.Leu26Phe)
c.4591C>T (p.Leu1531Phe)
n.6114C>T
 ClinVar
5g.13830669G>CCA359202617DNAH5n.920C>G
c.5989C>G (p.Leu1997Val)
c.5944C>G (p.Leu1982Val)
n.6196C>G
c.6097C>G (p.Leu2033Val)
c.5002C>G (p.Leu1668Val)
c.1186C>G (p.Leu396Val)
c.739C>G (p.Leu247Val)
c.76C>G (p.Leu26Val)
c.4591C>G (p.Leu1531Val)
n.6114C>G
 gnomAD v4
5g.13830669G>TCA359202619DNAH5n.920C>A
c.5989C>A (p.Leu1997Ile)
c.5944C>A (p.Leu1982Ile)
n.6196C>A
c.6097C>A (p.Leu2033Ile)
c.5002C>A (p.Leu1668Ile)
c.1186C>A (p.Leu396Ile)
c.739C>A (p.Leu247Ile)
c.76C>A (p.Leu26Ile)
c.4591C>A (p.Leu1531Ile)
n.6114C>A
5g.13830670G>ACA443252978DNAH5n.919C>T
c.5988C>T (p.Cys1996=)
c.5943C>T (p.Cys1981=)
n.6195C>T
c.6096C>T (p.Cys2032=)
c.5001C>T (p.Cys1667=)
c.1185C>T (p.Cys395=)
c.738C>T (p.Cys246=)
c.75C>T (p.Cys25=)
c.4590C>T (p.Cys1530=)
n.6113C>T
5g.13830670G>CCA359202624DNAH5n.919C>G
c.5988C>G (p.Cys1996Trp)
c.5943C>G (p.Cys1981Trp)
n.6195C>G
c.6096C>G (p.Cys2032Trp)
c.5001C>G (p.Cys1667Trp)
c.1185C>G (p.Cys395Trp)
c.738C>G (p.Cys246Trp)
c.75C>G (p.Cys25Trp)
c.4590C>G (p.Cys1530Trp)
n.6113C>G
5g.13830670G>TCA359202625DNAH5n.919C>A
c.5988C>A (p.Cys1996Ter)
c.5943C>A (p.Cys1981Ter)
n.6195C>A
c.6096C>A (p.Cys2032Ter)
c.5001C>A (p.Cys1667Ter)
c.1185C>A (p.Cys395Ter)
c.738C>A (p.Cys246Ter)
c.75C>A (p.Cys25Ter)
c.4590C>A (p.Cys1530Ter)
n.6113C>A
5g.13830671C>ACA359202629DNAH5n.918G>T
c.5987G>T (p.Cys1996Phe)
c.5942G>T (p.Cys1981Phe)
n.6194G>T
c.6095G>T (p.Cys2032Phe)
c.5000G>T (p.Cys1667Phe)
c.1184G>T (p.Cys395Phe)
c.737G>T (p.Cys246Phe)
c.74G>T (p.Cys25Phe)
c.4589G>T (p.Cys1530Phe)
n.6112G>T
 gnomAD v4
5g.13830671C>GCA359202633DNAH5n.918G>C
c.5987G>C (p.Cys1996Ser)
c.5942G>C (p.Cys1981Ser)
n.6194G>C
c.6095G>C (p.Cys2032Ser)
c.5000G>C (p.Cys1667Ser)
c.1184G>C (p.Cys395Ser)
c.737G>C (p.Cys246Ser)
c.74G>C (p.Cys25Ser)
c.4589G>C (p.Cys1530Ser)
n.6112G>C
5g.13830671C>TCA359202635DNAH5n.918G>A
c.5987G>A (p.Cys1996Tyr)
c.5942G>A (p.Cys1981Tyr)
n.6194G>A
c.6095G>A (p.Cys2032Tyr)
c.5000G>A (p.Cys1667Tyr)
c.1184G>A (p.Cys395Tyr)
c.737G>A (p.Cys246Tyr)
c.74G>A (p.Cys25Tyr)
c.4589G>A (p.Cys1530Tyr)
n.6112G>A

Number of alleles fetched