Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.13794035A>CCA359222262DNAH5c.7911T>G (p.Asp2637Glu)
c.7866T>G (p.Asp2622Glu)
n.8118T>G
c.8019T>G (p.Asp2673Glu)
c.6924T>G (p.Asp2308Glu)
c.3108T>G (p.Asp1036Glu)
c.2661T>G (p.Asp887Glu)
c.*14T>G (n.*14T>G)
c.1998T>G (p.Asp666Glu)
c.6513T>G (p.Asp2171Glu)
n.8036T>G
5g.13794035A>GCA443267497DNAH5c.7911T>C (p.Asp2637=)
c.7866T>C (p.Asp2622=)
n.8118T>C
c.8019T>C (p.Asp2673=)
c.6924T>C (p.Asp2308=)
c.3108T>C (p.Asp1036=)
c.2661T>C (p.Asp887=)
c.*14T>C (n.*14T>C)
c.1998T>C (p.Asp666=)
c.6513T>C (p.Asp2171=)
n.8036T>C
 ClinVar dbSNP
5g.13794035A>TCA359222260DNAH5c.7911T>A (p.Asp2637Glu)
c.7866T>A (p.Asp2622Glu)
n.8118T>A
c.8019T>A (p.Asp2673Glu)
c.6924T>A (p.Asp2308Glu)
c.3108T>A (p.Asp1036Glu)
c.2661T>A (p.Asp887Glu)
c.*14T>A (n.*14T>A)
c.1998T>A (p.Asp666Glu)
c.6513T>A (p.Asp2171Glu)
n.8036T>A
5g.13794036T>ACA359222264DNAH5c.7910A>T (p.Asp2637Val)
c.7865A>T (p.Asp2622Val)
n.8117A>T
c.8018A>T (p.Asp2673Val)
c.6923A>T (p.Asp2308Val)
c.3107A>T (p.Asp1036Val)
c.2660A>T (p.Asp887Val)
c.*13A>T (n.*13A>T)
c.1997A>T (p.Asp666Val)
c.6512A>T (p.Asp2171Val)
n.8035A>T
5g.13794036T>CCA359222265DNAH5c.7910A>G (p.Asp2637Gly)
c.7865A>G (p.Asp2622Gly)
n.8117A>G
c.8018A>G (p.Asp2673Gly)
c.6923A>G (p.Asp2308Gly)
c.3107A>G (p.Asp1036Gly)
c.2660A>G (p.Asp887Gly)
c.*13A>G (n.*13A>G)
c.1997A>G (p.Asp666Gly)
c.6512A>G (p.Asp2171Gly)
n.8035A>G
 gnomAD v4
5g.13794036T>GCA359222266DNAH5c.7910A>C (p.Asp2637Ala)
c.7865A>C (p.Asp2622Ala)
n.8117A>C
c.8018A>C (p.Asp2673Ala)
c.6923A>C (p.Asp2308Ala)
c.3107A>C (p.Asp1036Ala)
c.2660A>C (p.Asp887Ala)
c.*13A>C (n.*13A>C)
c.1997A>C (p.Asp666Ala)
c.6512A>C (p.Asp2171Ala)
n.8035A>C
5g.13794037C>ACA359222267DNAH5c.7909G>T (p.Asp2637Tyr)
c.7864G>T (p.Asp2622Tyr)
n.8116G>T
c.8017G>T (p.Asp2673Tyr)
c.6922G>T (p.Asp2308Tyr)
c.3106G>T (p.Asp1036Tyr)
c.2659G>T (p.Asp887Tyr)
c.*12G>T (n.*12G>T)
c.1996G>T (p.Asp666Tyr)
c.6511G>T (p.Asp2171Tyr)
n.8034G>T
 gnomAD v4
5g.13794037C>GCA359222268DNAH5c.7909G>C (p.Asp2637His)
c.7864G>C (p.Asp2622His)
n.8116G>C
c.8017G>C (p.Asp2673His)
c.6922G>C (p.Asp2308His)
c.3106G>C (p.Asp1036His)
c.2659G>C (p.Asp887His)
c.*12G>C (n.*12G>C)
c.1996G>C (p.Asp666His)
c.6511G>C (p.Asp2171His)
n.8034G>C
5g.13794037C>TCA359222271DNAH5c.7909G>A (p.Asp2637Asn)
c.7864G>A (p.Asp2622Asn)
n.8116G>A
c.8017G>A (p.Asp2673Asn)
c.6922G>A (p.Asp2308Asn)
c.3106G>A (p.Asp1036Asn)
c.2659G>A (p.Asp887Asn)
c.*12G>A (n.*12G>A)
c.1996G>A (p.Asp666Asn)
c.6511G>A (p.Asp2171Asn)
n.8034G>A
 COSMIC
5g.13794038C>ACA443267500DNAH5c.7908G>T (p.Val2636=)
c.7863G>T (p.Val2621=)
n.8115G>T
c.8016G>T (p.Val2672=)
c.6921G>T (p.Val2307=)
c.3105G>T (p.Val1035=)
c.2658G>T (p.Val886=)
c.*11G>T (n.*11G>T)
c.1995G>T (p.Val665=)
c.6510G>T (p.Val2170=)
n.8033G>T
5g.13794038C>GCA443267502DNAH5c.7908G>C (p.Val2636=)
c.7863G>C (p.Val2621=)
n.8115G>C
c.8016G>C (p.Val2672=)
c.6921G>C (p.Val2307=)
c.3105G>C (p.Val1035=)
c.2658G>C (p.Val886=)
c.*11G>C (n.*11G>C)
c.1995G>C (p.Val665=)
c.6510G>C (p.Val2170=)
n.8033G>C
5g.13794038C>TCA443267503DNAH5c.7908G>A (p.Val2636=)
c.7863G>A (p.Val2621=)
n.8115G>A
c.8016G>A (p.Val2672=)
c.6921G>A (p.Val2307=)
c.3105G>A (p.Val1035=)
c.2658G>A (p.Val886=)
c.*11G>A (n.*11G>A)
c.1995G>A (p.Val665=)
c.6510G>A (p.Val2170=)
n.8033G>A
5g.13794039A>CCA359222277DNAH5c.7907T>G (p.Val2636Gly)
c.7862T>G (p.Val2621Gly)
n.8114T>G
c.8015T>G (p.Val2672Gly)
c.6920T>G (p.Val2307Gly)
c.3104T>G (p.Val1035Gly)
c.2657T>G (p.Val886Gly)
c.*10T>G (n.*10T>G)
c.1994T>G (p.Val665Gly)
c.6509T>G (p.Val2170Gly)
n.8032T>G
5g.13794039A>GCA359222273DNAH5c.7907T>C (p.Val2636Ala)
c.7862T>C (p.Val2621Ala)
n.8114T>C
c.8015T>C (p.Val2672Ala)
c.6920T>C (p.Val2307Ala)
c.3104T>C (p.Val1035Ala)
c.2657T>C (p.Val886Ala)
c.*10T>C (n.*10T>C)
c.1994T>C (p.Val665Ala)
c.6509T>C (p.Val2170Ala)
n.8032T>C
5g.13794039A>TCA359222275DNAH5c.7907T>A (p.Val2636Glu)
c.7862T>A (p.Val2621Glu)
n.8114T>A
c.8015T>A (p.Val2672Glu)
c.6920T>A (p.Val2307Glu)
c.3104T>A (p.Val1035Glu)
c.2657T>A (p.Val886Glu)
c.*10T>A (n.*10T>A)
c.1994T>A (p.Val665Glu)
c.6509T>A (p.Val2170Glu)
n.8032T>A
5g.13794040C>ACA359222283DNAH5c.7906G>T (p.Val2636Leu)
c.7861G>T (p.Val2621Leu)
n.8113G>T
c.8014G>T (p.Val2672Leu)
c.6919G>T (p.Val2307Leu)
c.3103G>T (p.Val1035Leu)
c.2656G>T (p.Val886Leu)
c.*9G>T (n.*9G>T)
c.1993G>T (p.Val665Leu)
c.6508G>T (p.Val2170Leu)
n.8031G>T
5g.13794040C>GCA359222285DNAH5c.7906G>C (p.Val2636Leu)
c.7861G>C (p.Val2621Leu)
n.8113G>C
c.8014G>C (p.Val2672Leu)
c.6919G>C (p.Val2307Leu)
c.3103G>C (p.Val1035Leu)
c.2656G>C (p.Val886Leu)
c.*9G>C (n.*9G>C)
c.1993G>C (p.Val665Leu)
c.6508G>C (p.Val2170Leu)
n.8031G>C
5g.13794040C>TCA359222293DNAH5c.7906G>A (p.Val2636Met)
c.7861G>A (p.Val2621Met)
n.8113G>A
c.8014G>A (p.Val2672Met)
c.6919G>A (p.Val2307Met)
c.3103G>A (p.Val1035Met)
c.2656G>A (p.Val886Met)
c.*9G>A (n.*9G>A)
c.1993G>A (p.Val665Met)
c.6508G>A (p.Val2170Met)
n.8031G>A
5g.13794041A>CCA359222307DNAH5c.7905T>G (p.Tyr2635Ter)
c.7860T>G (p.Tyr2620Ter)
n.8112T>G
c.8013T>G (p.Tyr2671Ter)
c.6918T>G (p.Tyr2306Ter)
c.3102T>G (p.Tyr1034Ter)
c.2655T>G (p.Tyr885Ter)
c.*8T>G (n.*8T>G)
c.1992T>G (p.Tyr664Ter)
c.6507T>G (p.Tyr2169Ter)
n.8030T>G
5g.13794041A>GCA443267505DNAH5c.7905T>C (p.Tyr2635=)
c.7860T>C (p.Tyr2620=)
n.8112T>C
c.8013T>C (p.Tyr2671=)
c.6918T>C (p.Tyr2306=)
c.3102T>C (p.Tyr1034=)
c.2655T>C (p.Tyr885=)
c.*8T>C (n.*8T>C)
c.1992T>C (p.Tyr664=)
c.6507T>C (p.Tyr2169=)
n.8030T>C
5g.13794041A>TCA359222309DNAH5c.7905T>A (p.Tyr2635Ter)
c.7860T>A (p.Tyr2620Ter)
n.8112T>A
c.8013T>A (p.Tyr2671Ter)
c.6918T>A (p.Tyr2306Ter)
c.3102T>A (p.Tyr1034Ter)
c.2655T>A (p.Tyr885Ter)
c.*8T>A (n.*8T>A)
c.1992T>A (p.Tyr664Ter)
c.6507T>A (p.Tyr2169Ter)
n.8030T>A
5g.13794042T>ACA359222318DNAH5c.7904A>T (p.Tyr2635Phe)
c.7859A>T (p.Tyr2620Phe)
n.8111A>T
c.8012A>T (p.Tyr2671Phe)
c.6917A>T (p.Tyr2306Phe)
c.3101A>T (p.Tyr1034Phe)
c.2654A>T (p.Tyr885Phe)
c.*7A>T (n.*7A>T)
c.1991A>T (p.Tyr664Phe)
c.6506A>T (p.Tyr2169Phe)
n.8029A>T
5g.13794042T>CCA359222315DNAH5c.7904A>G (p.Tyr2635Cys)
c.7859A>G (p.Tyr2620Cys)
n.8111A>G
c.8012A>G (p.Tyr2671Cys)
c.6917A>G (p.Tyr2306Cys)
c.3101A>G (p.Tyr1034Cys)
c.2654A>G (p.Tyr885Cys)
c.*7A>G (n.*7A>G)
c.1991A>G (p.Tyr664Cys)
c.6506A>G (p.Tyr2169Cys)
n.8029A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13794042T>GCA359222317DNAH5c.7904A>C (p.Tyr2635Ser)
c.7859A>C (p.Tyr2620Ser)
n.8111A>C
c.8012A>C (p.Tyr2671Ser)
c.6917A>C (p.Tyr2306Ser)
c.3101A>C (p.Tyr1034Ser)
c.2654A>C (p.Tyr885Ser)
c.*7A>C (n.*7A>C)
c.1991A>C (p.Tyr664Ser)
c.6506A>C (p.Tyr2169Ser)
n.8029A>C
5g.13794042T=CA1528441873DNAH5c.7904A= (p.Tyr2635=)
c.7859A= (p.Tyr2620=)
n.8111A=
c.8012A= (p.Tyr2671=)
c.6917A= (p.Tyr2306=)
c.3101A= (p.Tyr1034=)
c.2654A= (p.Tyr885=)
c.*7A= (n.*7A=)
c.1991A= (p.Tyr664=)
c.6506A= (p.Tyr2169=)
n.8029A=
5g.13794043A>CCA359222320DNAH5c.7903T>G (p.Tyr2635Asp)
c.7858T>G (p.Tyr2620Asp)
n.8110T>G
c.8011T>G (p.Tyr2671Asp)
c.6916T>G (p.Tyr2306Asp)
c.3100T>G (p.Tyr1034Asp)
c.2653T>G (p.Tyr885Asp)
c.*6T>G (n.*6T>G)
c.1990T>G (p.Tyr664Asp)
c.6505T>G (p.Tyr2169Asp)
n.8028T>G
5g.13794043A>GCA359222322DNAH5c.7903T>C (p.Tyr2635His)
c.7858T>C (p.Tyr2620His)
n.8110T>C
c.8011T>C (p.Tyr2671His)
c.6916T>C (p.Tyr2306His)
c.3100T>C (p.Tyr1034His)
c.2653T>C (p.Tyr885His)
c.*6T>C (n.*6T>C)
c.1990T>C (p.Tyr664His)
c.6505T>C (p.Tyr2169His)
n.8028T>C
5g.13794043A>TCA359222323DNAH5c.7903T>A (p.Tyr2635Asn)
c.7858T>A (p.Tyr2620Asn)
n.8110T>A
c.8011T>A (p.Tyr2671Asn)
c.6916T>A (p.Tyr2306Asn)
c.3100T>A (p.Tyr1034Asn)
c.2653T>A (p.Tyr885Asn)
c.*6T>A (n.*6T>A)
c.1990T>A (p.Tyr664Asn)
c.6505T>A (p.Tyr2169Asn)
n.8028T>A
5g.13794044G>ACA443267508DNAH5c.7902C>T (p.Ser2634=)
c.7857C>T (p.Ser2619=)
n.8109C>T
c.8010C>T (p.Ser2670=)
c.6915C>T (p.Ser2305=)
c.3099C>T (p.Ser1033=)
c.2652C>T (p.Ser884=)
c.*5C>T (n.*5C>T)
c.1989C>T (p.Ser663=)
c.6504C>T (p.Ser2168=)
n.8027C>T
 ClinVar
5g.13794044G>CCA359222324DNAH5c.7902C>G (p.Ser2634Arg)
c.7857C>G (p.Ser2619Arg)
n.8109C>G
c.8010C>G (p.Ser2670Arg)
c.6915C>G (p.Ser2305Arg)
c.3099C>G (p.Ser1033Arg)
c.2652C>G (p.Ser884Arg)
c.*5C>G (n.*5C>G)
c.1989C>G (p.Ser663Arg)
c.6504C>G (p.Ser2168Arg)
n.8027C>G
5g.13794044G>TCA359222325DNAH5c.7902C>A (p.Ser2634Arg)
c.7857C>A (p.Ser2619Arg)
n.8109C>A
c.8010C>A (p.Ser2670Arg)
c.6915C>A (p.Ser2305Arg)
c.3099C>A (p.Ser1033Arg)
c.2652C>A (p.Ser884Arg)
c.*5C>A (n.*5C>A)
c.1989C>A (p.Ser663Arg)
c.6504C>A (p.Ser2168Arg)
n.8027C>A
5g.13794044_13794048delinsGCTCTCA1528441874DNAH5c.7898_7902delinsAGAGC (p.Glu2633=)
c.7853_7857delinsAGAGC (p.Glu2618=)
n.8105_8109delinsAGAGC
c.8006_8010delinsAGAGC (p.Glu2669=)
c.6911_6915delinsAGAGC (p.Glu2304=)
c.3095_3099delinsAGAGC (p.Glu1032=)
c.2648_2652delinsAGAGC (p.Glu883=)
c.*1_*5delinsAGAGC (n.*1_*5delinsAGAGC)
c.1985_1989delinsAGAGC (p.Glu662=)
c.6500_6504delinsAGAGC (p.Glu2167=)
n.8023_8027delinsAGAGC
5g.13794045C>ACA359222328DNAH5c.7901G>T (p.Ser2634Ile)
c.7856G>T (p.Ser2619Ile)
n.8108G>T
c.8009G>T (p.Ser2670Ile)
c.6914G>T (p.Ser2305Ile)
c.3098G>T (p.Ser1033Ile)
c.2651G>T (p.Ser884Ile)
c.*4G>T (n.*4G>T)
c.1988G>T (p.Ser663Ile)
c.6503G>T (p.Ser2168Ile)
n.8026G>T
5g.13794045C>GCA359222327DNAH5c.7901G>C (p.Ser2634Thr)
c.7856G>C (p.Ser2619Thr)
n.8108G>C
c.8009G>C (p.Ser2670Thr)
c.6914G>C (p.Ser2305Thr)
c.3098G>C (p.Ser1033Thr)
c.2651G>C (p.Ser884Thr)
c.*4G>C (n.*4G>C)
c.1988G>C (p.Ser663Thr)
c.6503G>C (p.Ser2168Thr)
n.8026G>C
5g.13794045C>TCA359222326DNAH5c.7901G>A (p.Ser2634Asn)
c.7856G>A (p.Ser2619Asn)
n.8108G>A
c.8009G>A (p.Ser2670Asn)
c.6914G>A (p.Ser2305Asn)
c.3098G>A (p.Ser1033Asn)
c.2651G>A (p.Ser884Asn)
c.*4G>A (n.*4G>A)
c.1988G>A (p.Ser663Asn)
c.6503G>A (p.Ser2168Asn)
n.8026G>A
5g.13794047_13794050delCA557872553DNAH5c.7898_7901del (p.Glu2633AlafsTer19)
c.7853_7856del (p.Glu2618AlafsTer19)
n.8105_8108del
c.8006_8009del (p.Glu2669AlafsTer19)
c.6911_6914del (p.Glu2304AlafsTer19)
c.3095_3098del (p.Glu1032AlafsTer19)
c.2648_2651del (p.Glu883AlafsTer19)
c.*1_*4del (n.*1_*4del)
c.1985_1988del (p.Glu662AlafsTer19)
c.6500_6503del (p.Glu2167AlafsTer19)
n.8023_8026del
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13794046T>ACA359222329DNAH5c.7900A>T (p.Ser2634Cys)
c.7855A>T (p.Ser2619Cys)
n.8107A>T
c.8008A>T (p.Ser2670Cys)
c.6913A>T (p.Ser2305Cys)
c.3097A>T (p.Ser1033Cys)
c.2650A>T (p.Ser884Cys)
c.*3A>T (n.*3A>T)
c.1987A>T (p.Ser663Cys)
c.6502A>T (p.Ser2168Cys)
n.8025A>T
5g.13794046T>CCA359222333DNAH5c.7900A>G (p.Ser2634Gly)
c.7855A>G (p.Ser2619Gly)
n.8107A>G
c.8008A>G (p.Ser2670Gly)
c.6913A>G (p.Ser2305Gly)
c.3097A>G (p.Ser1033Gly)
c.2650A>G (p.Ser884Gly)
c.*3A>G (n.*3A>G)
c.1987A>G (p.Ser663Gly)
c.6502A>G (p.Ser2168Gly)
n.8025A>G
5g.13794046T>GCA359222335DNAH5c.7900A>C (p.Ser2634Arg)
c.7855A>C (p.Ser2619Arg)
n.8107A>C
c.8008A>C (p.Ser2670Arg)
c.6913A>C (p.Ser2305Arg)
c.3097A>C (p.Ser1033Arg)
c.2650A>C (p.Ser884Arg)
c.*3A>C (n.*3A>C)
c.1987A>C (p.Ser663Arg)
c.6502A>C (p.Ser2168Arg)
n.8025A>C
5g.13794047C>ACA359222338DNAH5c.7899G>T (p.Glu2633Asp)
c.7854G>T (p.Glu2618Asp)
n.8106G>T
c.8007G>T (p.Glu2669Asp)
c.6912G>T (p.Glu2304Asp)
c.3096G>T (p.Glu1032Asp)
c.2649G>T (p.Glu883Asp)
c.*2G>T (n.*2G>T)
c.1986G>T (p.Glu662Asp)
c.6501G>T (p.Glu2167Asp)
n.8024G>T
 COSMIC
5g.13794047C=CA1528441875DNAH5c.7899G= (p.Glu2633=)
c.7854G= (p.Glu2618=)
n.8106G=
c.8007G= (p.Glu2669=)
c.6912G= (p.Glu2304=)
c.3096G= (p.Glu1032=)
c.2649G= (p.Glu883=)
c.*2G= (n.*2G=)
c.1986G= (p.Glu662=)
c.6501G= (p.Glu2167=)
n.8024G=
5g.13794047C>GCA359222342DNAH5c.7899G>C (p.Glu2633Asp)
c.7854G>C (p.Glu2618Asp)
n.8106G>C
c.8007G>C (p.Glu2669Asp)
c.6912G>C (p.Glu2304Asp)
c.3096G>C (p.Glu1032Asp)
c.2649G>C (p.Glu883Asp)
c.*2G>C (n.*2G>C)
c.1986G>C (p.Glu662Asp)
c.6501G>C (p.Glu2167Asp)
n.8024G>C
5g.13794047C>TCA3202957DNAH5c.7899G>A (p.Glu2633=)
c.7854G>A (p.Glu2618=)
n.8106G>A
c.8007G>A (p.Glu2669=)
c.6912G>A (p.Glu2304=)
c.3096G>A (p.Glu1032=)
c.2649G>A (p.Glu883=)
c.*2G>A (n.*2G>A)
c.1986G>A (p.Glu662=)
c.6501G>A (p.Glu2167=)
n.8024G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13794048T>ACA359222356DNAH5c.7898A>T (p.Glu2633Val)
c.7853A>T (p.Glu2618Val)
n.8105A>T
c.8006A>T (p.Glu2669Val)
c.6911A>T (p.Glu2304Val)
c.3095A>T (p.Glu1032Val)
c.2648A>T (p.Glu883Val)
c.*1A>T (n.*1A>T)
c.1985A>T (p.Glu662Val)
c.6500A>T (p.Glu2167Val)
n.8023A>T
5g.13794048T>CCA359222361DNAH5c.7898A>G (p.Glu2633Gly)
c.7853A>G (p.Glu2618Gly)
n.8105A>G
c.8006A>G (p.Glu2669Gly)
c.6911A>G (p.Glu2304Gly)
c.3095A>G (p.Glu1032Gly)
c.2648A>G (p.Glu883Gly)
c.*1A>G (n.*1A>G)
c.1985A>G (p.Glu662Gly)
c.6500A>G (p.Glu2167Gly)
n.8023A>G
 gnomAD v4
5g.13794048T>GCA359222359DNAH5c.7898A>C (p.Glu2633Ala)
c.7853A>C (p.Glu2618Ala)
n.8105A>C
c.8006A>C (p.Glu2669Ala)
c.6911A>C (p.Glu2304Ala)
c.3095A>C (p.Glu1032Ala)
c.2648A>C (p.Glu883Ala)
c.*1A>C (n.*1A>C)
c.1985A>C (p.Glu662Ala)
c.6500A>C (p.Glu2167Ala)
n.8023A>C
5g.13794049C>ACA359222370DNAH5c.7897G>T (p.Glu2633Ter)
c.7852G>T (p.Glu2618Ter)
n.8104G>T
c.8005G>T (p.Glu2669Ter)
c.6910G>T (p.Glu2304Ter)
c.3094G>T (p.Glu1032Ter)
c.2647G>T (p.Glu883Ter)
c.8040G>T (p.Ter2680Tyr)
c.1984G>T (p.Glu662Ter)
c.6499G>T (p.Glu2167Ter)
n.8022G>T
5g.13794049C>GCA359222384DNAH5c.7897G>C (p.Glu2633Gln)
c.7852G>C (p.Glu2618Gln)
n.8104G>C
c.8005G>C (p.Glu2669Gln)
c.6910G>C (p.Glu2304Gln)
c.3094G>C (p.Glu1032Gln)
c.2647G>C (p.Glu883Gln)
c.8040G>C (p.Ter2680Tyr)
c.1984G>C (p.Glu662Gln)
c.6499G>C (p.Glu2167Gln)
n.8022G>C
5g.13794049C>TCA359222386DNAH5c.7897G>A (p.Glu2633Lys)
c.7852G>A (p.Glu2618Lys)
n.8104G>A
c.8005G>A (p.Glu2669Lys)
c.6910G>A (p.Glu2304Lys)
c.3094G>A (p.Glu1032Lys)
c.2647G>A (p.Glu883Lys)
c.8040G>A (p.Ter2680=)
c.1984G>A (p.Glu662Lys)
c.6499G>A (p.Glu2167Lys)
n.8022G>A
5g.13794050T>ACA443267514DNAH5c.7896A>T (p.Ile2632=)
c.7851A>T (p.Ile2617=)
n.8103A>T
c.8004A>T (p.Ile2668=)
c.6909A>T (p.Ile2303=)
c.3093A>T (p.Ile1031=)
c.2646A>T (p.Ile882=)
c.8039A>T (p.Ter2680Leu)
c.1983A>T (p.Ile661=)
c.6498A>T (p.Ile2166=)
n.8021A>T

Number of alleles fetched