Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.13886048A>CCA359196474DNAH5c.2659T>G (p.Leu887Val)
c.2614T>G (p.Leu872Val)
n.2866T>G
c.2767T>G (p.Leu923Val)
c.1672T>G (p.Leu558Val)
c.1261T>G (p.Leu421Val)
n.2784T>G
5g.13886048A>GCA443273702DNAH5c.2659T>C (p.Leu887=)
c.2614T>C (p.Leu872=)
n.2866T>C
c.2767T>C (p.Leu923=)
c.1672T>C (p.Leu558=)
c.1261T>C (p.Leu421=)
n.2784T>C
 ClinVar
5g.13886048A>TCA359196476DNAH5c.2659T>A (p.Leu887Met)
c.2614T>A (p.Leu872Met)
n.2866T>A
c.2767T>A (p.Leu923Met)
c.1672T>A (p.Leu558Met)
c.1261T>A (p.Leu421Met)
n.2784T>A
5g.13886049C>ACA359196479DNAH5c.2658G>T (p.Met886Ile)
c.2613G>T (p.Met871Ile)
n.2865G>T
c.2766G>T (p.Met922Ile)
c.1671G>T (p.Met557Ile)
c.1260G>T (p.Met420Ile)
n.2783G>T
5g.13886049C=CA1528483821DNAH5c.2658G= (p.Met886=)
c.2613G= (p.Met871=)
n.2865G=
c.2766G= (p.Met922=)
c.1671G= (p.Met557=)
c.1260G= (p.Met420=)
n.2783G=
5g.13886049C>GCA359196481DNAH5c.2658G>C (p.Met886Ile)
c.2613G>C (p.Met871Ile)
n.2865G>C
c.2766G>C (p.Met922Ile)
c.1671G>C (p.Met557Ile)
c.1260G>C (p.Met420Ile)
n.2783G>C
5g.13886049C>TCA359196483DNAH5c.2658G>A (p.Met886Ile)
c.2613G>A (p.Met871Ile)
n.2865G>A
c.2766G>A (p.Met922Ile)
c.1671G>A (p.Met557Ile)
c.1260G>A (p.Met420Ile)
n.2783G>A
 dbSNP gnomAD v2 gnomAD v4
5g.13886050A>CCA359196487DNAH5c.2657T>G (p.Met886Arg)
c.2612T>G (p.Met871Arg)
n.2864T>G
c.2765T>G (p.Met922Arg)
c.1670T>G (p.Met557Arg)
c.1259T>G (p.Met420Arg)
n.2782T>G
5g.13886050A>GCA359196489DNAH5c.2657T>C (p.Met886Thr)
c.2612T>C (p.Met871Thr)
n.2864T>C
c.2765T>C (p.Met922Thr)
c.1670T>C (p.Met557Thr)
c.1259T>C (p.Met420Thr)
n.2782T>C
5g.13886050A>TCA359196494DNAH5c.2657T>A (p.Met886Lys)
c.2612T>A (p.Met871Lys)
n.2864T>A
c.2765T>A (p.Met922Lys)
c.1670T>A (p.Met557Lys)
c.1259T>A (p.Met420Lys)
n.2782T>A
5g.13886051T>ACA359196496DNAH5c.2656A>T (p.Met886Leu)
c.2611A>T (p.Met871Leu)
n.2863A>T
c.2764A>T (p.Met922Leu)
c.1669A>T (p.Met557Leu)
c.1258A>T (p.Met420Leu)
n.2781A>T
5g.13886051T>CCA359196499DNAH5c.2656A>G (p.Met886Val)
c.2611A>G (p.Met871Val)
n.2863A>G
c.2764A>G (p.Met922Val)
c.1669A>G (p.Met557Val)
c.1258A>G (p.Met420Val)
n.2781A>G
5g.13886051T>GCA359196502DNAH5c.2656A>C (p.Met886Leu)
c.2611A>C (p.Met871Leu)
n.2863A>C
c.2764A>C (p.Met922Leu)
c.1669A>C (p.Met557Leu)
c.1258A>C (p.Met420Leu)
n.2781A>C
5g.13886052A=CA1528483822DNAH5c.2655T= (p.Asn885=)
c.2610T= (p.Asn870=)
n.2862T=
c.2763T= (p.Asn921=)
c.1668T= (p.Asn556=)
c.1257T= (p.Asn419=)
n.2780T=
5g.13886052A>CCA3204526DNAH5c.2655T>G (p.Asn885Lys)
c.2610T>G (p.Asn870Lys)
n.2862T>G
c.2763T>G (p.Asn921Lys)
c.1668T>G (p.Asn556Lys)
c.1257T>G (p.Asn419Lys)
n.2780T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13886052A>GCA443273703DNAH5c.2655T>C (p.Asn885=)
c.2610T>C (p.Asn870=)
n.2862T>C
c.2763T>C (p.Asn921=)
c.1668T>C (p.Asn556=)
c.1257T>C (p.Asn419=)
n.2780T>C
5g.13886052A>TCA359196505DNAH5c.2655T>A (p.Asn885Lys)
c.2610T>A (p.Asn870Lys)
n.2862T>A
c.2763T>A (p.Asn921Lys)
c.1668T>A (p.Asn556Lys)
c.1257T>A (p.Asn419Lys)
n.2780T>A
5g.13886053T>ACA359196514DNAH5c.2654A>T (p.Asn885Ile)
c.2609A>T (p.Asn870Ile)
n.2861A>T
c.2762A>T (p.Asn921Ile)
c.1667A>T (p.Asn556Ile)
c.1256A>T (p.Asn419Ile)
n.2779A>T
5g.13886053T>CCA359196512DNAH5c.2654A>G (p.Asn885Ser)
c.2609A>G (p.Asn870Ser)
n.2861A>G
c.2762A>G (p.Asn921Ser)
c.1667A>G (p.Asn556Ser)
c.1256A>G (p.Asn419Ser)
n.2779A>G
5g.13886053T>GCA359196508DNAH5c.2654A>C (p.Asn885Thr)
c.2609A>C (p.Asn870Thr)
n.2861A>C
c.2762A>C (p.Asn921Thr)
c.1667A>C (p.Asn556Thr)
c.1256A>C (p.Asn419Thr)
n.2779A>C
5g.13886054T>ACA359196521DNAH5c.2653A>T (p.Asn885Tyr)
c.2608A>T (p.Asn870Tyr)
n.2860A>T
c.2761A>T (p.Asn921Tyr)
c.1666A>T (p.Asn556Tyr)
c.1255A>T (p.Asn419Tyr)
n.2778A>T
 COSMIC
5g.13886054T>CCA359196516DNAH5c.2653A>G (p.Asn885Asp)
c.2608A>G (p.Asn870Asp)
n.2860A>G
c.2761A>G (p.Asn921Asp)
c.1666A>G (p.Asn556Asp)
c.1255A>G (p.Asn419Asp)
n.2778A>G
 gnomAD v4
5g.13886054T>GCA359196519DNAH5c.2653A>C (p.Asn885His)
c.2608A>C (p.Asn870His)
n.2860A>C
c.2761A>C (p.Asn921His)
c.1666A>C (p.Asn556His)
c.1255A>C (p.Asn419His)
n.2778A>C
5g.13886055T>ACA443273704DNAH5c.2652A>T (p.Val884=)
c.2607A>T (p.Val869=)
n.2859A>T
c.2760A>T (p.Val920=)
c.1665A>T (p.Val555=)
c.1254A>T (p.Val418=)
n.2777A>T
5g.13886055T>CCA443273705DNAH5c.2652A>G (p.Val884=)
c.2607A>G (p.Val869=)
n.2859A>G
c.2760A>G (p.Val920=)
c.1665A>G (p.Val555=)
c.1254A>G (p.Val418=)
n.2777A>G
5g.13886055T>GCA443273706DNAH5c.2652A>C (p.Val884=)
c.2607A>C (p.Val869=)
n.2859A>C
c.2760A>C (p.Val920=)
c.1665A>C (p.Val555=)
c.1254A>C (p.Val418=)
n.2777A>C
5g.13886056A>CCA359196524DNAH5c.2651T>G (p.Val884Gly)
c.2606T>G (p.Val869Gly)
n.2858T>G
c.2759T>G (p.Val920Gly)
c.1664T>G (p.Val555Gly)
c.1253T>G (p.Val418Gly)
n.2776T>G
5g.13886056A>GCA359196526DNAH5c.2651T>C (p.Val884Ala)
c.2606T>C (p.Val869Ala)
n.2858T>C
c.2759T>C (p.Val920Ala)
c.1664T>C (p.Val555Ala)
c.1253T>C (p.Val418Ala)
n.2776T>C
5g.13886056A>TCA359196527DNAH5c.2651T>A (p.Val884Glu)
c.2606T>A (p.Val869Glu)
n.2858T>A
c.2759T>A (p.Val920Glu)
c.1664T>A (p.Val555Glu)
c.1253T>A (p.Val418Glu)
n.2776T>A
5g.13886057C>ACA359196532DNAH5c.2650G>T (p.Val884Leu)
c.2605G>T (p.Val869Leu)
n.2857G>T
c.2758G>T (p.Val920Leu)
c.1663G>T (p.Val555Leu)
c.1252G>T (p.Val418Leu)
n.2775G>T
5g.13886057C>GCA359196534DNAH5c.2650G>C (p.Val884Leu)
c.2605G>C (p.Val869Leu)
n.2857G>C
c.2758G>C (p.Val920Leu)
c.1663G>C (p.Val555Leu)
c.1252G>C (p.Val418Leu)
n.2775G>C
5g.13886057C>TCA359196535DNAH5c.2650G>A (p.Val884Ile)
c.2605G>A (p.Val869Ile)
n.2857G>A
c.2758G>A (p.Val920Ile)
c.1663G>A (p.Val555Ile)
c.1252G>A (p.Val418Ile)
n.2775G>A
5g.13886058A>CCA443273708DNAH5c.2649T>G (p.Leu883=)
c.2604T>G (p.Leu868=)
n.2856T>G
c.2757T>G (p.Leu919=)
c.1662T>G (p.Leu554=)
c.1251T>G (p.Leu417=)
n.2774T>G
5g.13886058A>GCA443273709DNAH5c.2649T>C (p.Leu883=)
c.2604T>C (p.Leu868=)
n.2856T>C
c.2757T>C (p.Leu919=)
c.1662T>C (p.Leu554=)
c.1251T>C (p.Leu417=)
n.2774T>C
5g.13886058A>TCA443273707DNAH5c.2649T>A (p.Leu883=)
c.2604T>A (p.Leu868=)
n.2856T>A
c.2757T>A (p.Leu919=)
c.1662T>A (p.Leu554=)
c.1251T>A (p.Leu417=)
n.2774T>A
5g.13886059A>CCA359196536DNAH5c.2648T>G (p.Leu883Arg)
c.2603T>G (p.Leu868Arg)
n.2855T>G
c.2756T>G (p.Leu919Arg)
c.1661T>G (p.Leu554Arg)
c.1250T>G (p.Leu417Arg)
n.2773T>G
5g.13886059A>GCA359196537DNAH5c.2648T>C (p.Leu883Pro)
c.2603T>C (p.Leu868Pro)
n.2855T>C
c.2756T>C (p.Leu919Pro)
c.1661T>C (p.Leu554Pro)
c.1250T>C (p.Leu417Pro)
n.2773T>C
 ClinVar dbSNP gnomAD v4
5g.13886059A>TCA359196539DNAH5c.2648T>A (p.Leu883His)
c.2603T>A (p.Leu868His)
n.2855T>A
c.2756T>A (p.Leu919His)
c.1661T>A (p.Leu554His)
c.1250T>A (p.Leu417His)
n.2773T>A
5g.13886060G>ACA359196540DNAH5c.2647C>T (p.Leu883Phe)
c.2602C>T (p.Leu868Phe)
n.2854C>T
c.2755C>T (p.Leu919Phe)
c.1660C>T (p.Leu554Phe)
c.1249C>T (p.Leu417Phe)
n.2772C>T
 gnomAD v4
5g.13886060G>CCA359196542DNAH5c.2647C>G (p.Leu883Val)
c.2602C>G (p.Leu868Val)
n.2854C>G
c.2755C>G (p.Leu919Val)
c.1660C>G (p.Leu554Val)
c.1249C>G (p.Leu417Val)
n.2772C>G
5g.13886060G>TCA359196543DNAH5c.2647C>A (p.Leu883Ile)
c.2602C>A (p.Leu868Ile)
n.2854C>A
c.2755C>A (p.Leu919Ile)
c.1660C>A (p.Leu554Ile)
c.1249C>A (p.Leu417Ile)
n.2772C>A
5g.13886061C>ACA359196549DNAH5c.2646G>T (p.Glu882Asp)
c.2601G>T (p.Glu867Asp)
n.2853G>T
c.2754G>T (p.Glu918Asp)
c.1659G>T (p.Glu553Asp)
c.1248G>T (p.Glu416Asp)
n.2771G>T
5g.13886061C>GCA359196547DNAH5c.2646G>C (p.Glu882Asp)
c.2601G>C (p.Glu867Asp)
n.2853G>C
c.2754G>C (p.Glu918Asp)
c.1659G>C (p.Glu553Asp)
c.1248G>C (p.Glu416Asp)
n.2771G>C
5g.13886061C>TCA443273710DNAH5c.2646G>A (p.Glu882=)
c.2601G>A (p.Glu867=)
n.2853G>A
c.2754G>A (p.Glu918=)
c.1659G>A (p.Glu553=)
c.1248G>A (p.Glu416=)
n.2771G>A
5g.13886062T>ACA359196552DNAH5c.2645A>T (p.Glu882Val)
c.2600A>T (p.Glu867Val)
n.2852A>T
c.2753A>T (p.Glu918Val)
c.1658A>T (p.Glu553Val)
c.1247A>T (p.Glu416Val)
n.2770A>T
5g.13886062T>CCA359196555DNAH5c.2645A>G (p.Glu882Gly)
c.2600A>G (p.Glu867Gly)
n.2852A>G
c.2753A>G (p.Glu918Gly)
c.1658A>G (p.Glu553Gly)
c.1247A>G (p.Glu416Gly)
n.2770A>G
 dbSNP
5g.13886062T>GCA359196558DNAH5c.2645A>C (p.Glu882Ala)
c.2600A>C (p.Glu867Ala)
n.2852A>C
c.2753A>C (p.Glu918Ala)
c.1658A>C (p.Glu553Ala)
c.1247A>C (p.Glu416Ala)
n.2770A>C
5g.13886062T=CA1528483823DNAH5c.2645A= (p.Glu882=)
c.2600A= (p.Glu867=)
n.2852A=
c.2753A= (p.Glu918=)
c.1658A= (p.Glu553=)
c.1247A= (p.Glu416=)
n.2770A=
5g.13886063C>ACA359196560DNAH5c.2644G>T (p.Glu882Ter)
c.2599G>T (p.Glu867Ter)
n.2851G>T
c.2752G>T (p.Glu918Ter)
c.1657G>T (p.Glu553Ter)
c.1246G>T (p.Glu416Ter)
n.2769G>T
5g.13886063C>GCA359196561DNAH5c.2644G>C (p.Glu882Gln)
c.2599G>C (p.Glu867Gln)
n.2851G>C
c.2752G>C (p.Glu918Gln)
c.1657G>C (p.Glu553Gln)
c.1246G>C (p.Glu416Gln)
n.2769G>C
5g.13886063C>TCA359196564DNAH5c.2644G>A (p.Glu882Lys)
c.2599G>A (p.Glu867Lys)
n.2851G>A
c.2752G>A (p.Glu918Lys)
c.1657G>A (p.Glu553Lys)
c.1246G>A (p.Glu416Lys)
n.2769G>A
5g.13886064delCA2765351032DNAH5c.2643del (p.Asn881LysfsTer4)
c.2598del (p.Asn866LysfsTer4)
n.2850del
c.2751del (p.Asn917LysfsTer4)
c.1656del (p.Asn552LysfsTer4)
c.1245del (p.Asn415LysfsTer4)
n.2768del
5g.13886064A=CA1528483824DNAH5c.2643T= (p.Asn881=)
c.2598T= (p.Asn866=)
n.2850T=
c.2751T= (p.Asn917=)
c.1656T= (p.Asn552=)
c.1245T= (p.Asn415=)
n.2768T=
5g.13886064A>CCA359196567DNAH5c.2643T>G (p.Asn881Lys)
c.2598T>G (p.Asn866Lys)
n.2850T>G
c.2751T>G (p.Asn917Lys)
c.1656T>G (p.Asn552Lys)
c.1245T>G (p.Asn415Lys)
n.2768T>G
 dbSNP gnomAD v3 gnomAD v4
5g.13886064A>GCA443273711DNAH5c.2643T>C (p.Asn881=)
c.2598T>C (p.Asn866=)
n.2850T>C
c.2751T>C (p.Asn917=)
c.1656T>C (p.Asn552=)
c.1245T>C (p.Asn415=)
n.2768T>C
 gnomAD v4
5g.13886064A>TCA359196566DNAH5c.2643T>A (p.Asn881Lys)
c.2598T>A (p.Asn866Lys)
n.2850T>A
c.2751T>A (p.Asn917Lys)
c.1656T>A (p.Asn552Lys)
c.1245T>A (p.Asn415Lys)
n.2768T>A
5g.13886065T>ACA359196570DNAH5c.2642A>T (p.Asn881Ile)
c.2597A>T (p.Asn866Ile)
n.2849A>T
c.2750A>T (p.Asn917Ile)
c.1655A>T (p.Asn552Ile)
c.1244A>T (p.Asn415Ile)
n.2767A>T
5g.13886065T>CCA359196572DNAH5c.2642A>G (p.Asn881Ser)
c.2597A>G (p.Asn866Ser)
n.2849A>G
c.2750A>G (p.Asn917Ser)
c.1655A>G (p.Asn552Ser)
c.1244A>G (p.Asn415Ser)
n.2767A>G
 dbSNP gnomAD v4
5g.13886065T>GCA359196575DNAH5c.2642A>C (p.Asn881Thr)
c.2597A>C (p.Asn866Thr)
n.2849A>C
c.2750A>C (p.Asn917Thr)
c.1655A>C (p.Asn552Thr)
c.1244A>C (p.Asn415Thr)
n.2767A>C
5g.13886065T=CA1528483825DNAH5c.2642A= (p.Asn881=)
c.2597A= (p.Asn866=)
n.2849A=
c.2750A= (p.Asn917=)
c.1655A= (p.Asn552=)
c.1244A= (p.Asn415=)
n.2767A=
5g.13886066T>ACA359196578DNAH5c.2641A>T (p.Asn881Tyr)
c.2596A>T (p.Asn866Tyr)
n.2848A>T
c.2749A>T (p.Asn917Tyr)
c.1654A>T (p.Asn552Tyr)
c.1243A>T (p.Asn415Tyr)
n.2766A>T
5g.13886066T>CCA359196581DNAH5c.2641A>G (p.Asn881Asp)
c.2596A>G (p.Asn866Asp)
n.2848A>G
c.2749A>G (p.Asn917Asp)
c.1654A>G (p.Asn552Asp)
c.1243A>G (p.Asn415Asp)
n.2766A>G
5g.13886066T>GCA359196583DNAH5c.2641A>C (p.Asn881His)
c.2596A>C (p.Asn866His)
n.2848A>C
c.2749A>C (p.Asn917His)
c.1654A>C (p.Asn552His)
c.1243A>C (p.Asn415His)
n.2766A>C
5g.13886067G>ACA443273712DNAH5c.2640C>T (p.Val880=)
c.2595C>T (p.Val865=)
n.2847C>T
c.2748C>T (p.Val916=)
c.1653C>T (p.Val551=)
c.1242C>T (p.Val414=)
n.2765C>T
 ClinVar
5g.13886067G>CCA443273713DNAH5c.2640C>G (p.Val880=)
c.2595C>G (p.Val865=)
n.2847C>G
c.2748C>G (p.Val916=)
c.1653C>G (p.Val551=)
c.1242C>G (p.Val414=)
n.2765C>G
 ClinVar
5g.13886067G=CA1528483826DNAH5c.2640C= (p.Val880=)
c.2595C= (p.Val865=)
n.2847C=
c.2748C= (p.Val916=)
c.1653C= (p.Val551=)
c.1242C= (p.Val414=)
n.2765C=
5g.13886067G>TCA443273714DNAH5c.2640C>A (p.Val880=)
c.2595C>A (p.Val865=)
n.2847C>A
c.2748C>A (p.Val916=)
c.1653C>A (p.Val551=)
c.1242C>A (p.Val414=)
n.2765C>A
 dbSNP gnomAD v3 gnomAD v4
5g.13886068A>CCA359196586DNAH5c.2639T>G (p.Val880Gly)
c.2594T>G (p.Val865Gly)
n.2846T>G
c.2747T>G (p.Val916Gly)
c.1652T>G (p.Val551Gly)
c.1241T>G (p.Val414Gly)
n.2764T>G
5g.13886068A>GCA359196591DNAH5c.2639T>C (p.Val880Ala)
c.2594T>C (p.Val865Ala)
n.2846T>C
c.2747T>C (p.Val916Ala)
c.1652T>C (p.Val551Ala)
c.1241T>C (p.Val414Ala)
n.2764T>C
5g.13886068A>TCA359196589DNAH5c.2639T>A (p.Val880Asp)
c.2594T>A (p.Val865Asp)
n.2846T>A
c.2747T>A (p.Val916Asp)
c.1652T>A (p.Val551Asp)
c.1241T>A (p.Val414Asp)
n.2764T>A
5g.13886069C>ACA359196595DNAH5c.2638G>T (p.Val880Phe)
c.2593G>T (p.Val865Phe)
n.2845G>T
c.2746G>T (p.Val916Phe)
c.1651G>T (p.Val551Phe)
c.1240G>T (p.Val414Phe)
n.2763G>T
 dbSNP gnomAD v2 gnomAD v4
5g.13886069C=CA1528483827DNAH5c.2638G= (p.Val880=)
c.2593G= (p.Val865=)
n.2845G=
c.2746G= (p.Val916=)
c.1651G= (p.Val551=)
c.1240G= (p.Val414=)
n.2763G=
5g.13886069C>GCA359196601DNAH5c.2638G>C (p.Val880Leu)
c.2593G>C (p.Val865Leu)
n.2845G>C
c.2746G>C (p.Val916Leu)
c.1651G>C (p.Val551Leu)
c.1240G>C (p.Val414Leu)
n.2763G>C
5g.13886069C>TCA359196604DNAH5c.2638G>A (p.Val880Ile)
c.2593G>A (p.Val865Ile)
n.2845G>A
c.2746G>A (p.Val916Ile)
c.1651G>A (p.Val551Ile)
c.1240G>A (p.Val414Ile)
n.2763G>A
5g.13886070T>ACA443273715DNAH5c.2637A>T (p.Ala879=)
c.2592A>T (p.Ala864=)
n.2844A>T
c.2745A>T (p.Ala915=)
c.1650A>T (p.Ala550=)
c.1239A>T (p.Ala413=)
n.2762A>T
5g.13886070T>CCA443273716DNAH5c.2637A>G (p.Ala879=)
c.2592A>G (p.Ala864=)
n.2844A>G
c.2745A>G (p.Ala915=)
c.1650A>G (p.Ala550=)
c.1239A>G (p.Ala413=)
n.2762A>G
5g.13886070T>GCA443273717DNAH5c.2637A>C (p.Ala879=)
c.2592A>C (p.Ala864=)
n.2844A>C
c.2745A>C (p.Ala915=)
c.1650A>C (p.Ala550=)
c.1239A>C (p.Ala413=)
n.2762A>C
5g.13886071G>ACA359196608DNAH5c.2636C>T (p.Ala879Val)
c.2591C>T (p.Ala864Val)
n.2843C>T
c.2744C>T (p.Ala915Val)
c.1649C>T (p.Ala550Val)
c.1238C>T (p.Ala413Val)
n.2761C>T
5g.13886071G>CCA359196610DNAH5c.2636C>G (p.Ala879Gly)
c.2591C>G (p.Ala864Gly)
n.2843C>G
c.2744C>G (p.Ala915Gly)
c.1649C>G (p.Ala550Gly)
c.1238C>G (p.Ala413Gly)
n.2761C>G
5g.13886071G>TCA359196613DNAH5c.2636C>A (p.Ala879Glu)
c.2591C>A (p.Ala864Glu)
n.2843C>A
c.2744C>A (p.Ala915Glu)
c.1649C>A (p.Ala550Glu)
c.1238C>A (p.Ala413Glu)
n.2761C>A
5g.13886072C>ACA359196621DNAH5c.2635G>T (p.Ala879Ser)
c.2590G>T (p.Ala864Ser)
n.2842G>T
c.2743G>T (p.Ala915Ser)
c.1648G>T (p.Ala550Ser)
c.1237G>T (p.Ala413Ser)
n.2760G>T
5g.13886072C>GCA359196615DNAH5c.2635G>C (p.Ala879Pro)
c.2590G>C (p.Ala864Pro)
n.2842G>C
c.2743G>C (p.Ala915Pro)
c.1648G>C (p.Ala550Pro)
c.1237G>C (p.Ala413Pro)
n.2760G>C
5g.13886072C>TCA359196617DNAH5c.2635G>A (p.Ala879Thr)
c.2590G>A (p.Ala864Thr)
n.2842G>A
c.2743G>A (p.Ala915Thr)
c.1648G>A (p.Ala550Thr)
c.1237G>A (p.Ala413Thr)
n.2760G>A
 gnomAD v4
5g.13886073C>ACA359196624DNAH5c.2634G>T (p.Glu878Asp)
c.2589G>T (p.Glu863Asp)
n.2841G>T
c.2742G>T (p.Glu914Asp)
c.1647G>T (p.Glu549Asp)
c.1236G>T (p.Glu412Asp)
n.2759G>T
 dbSNP
5g.13886073C=CA1528483828DNAH5c.2634G= (p.Glu878=)
c.2589G= (p.Glu863=)
n.2841G=
c.2742G= (p.Glu914=)
c.1647G= (p.Glu549=)
c.1236G= (p.Glu412=)
n.2759G=
5g.13886073C>GCA359196626DNAH5c.2634G>C (p.Glu878Asp)
c.2589G>C (p.Glu863Asp)
n.2841G>C
c.2742G>C (p.Glu914Asp)
c.1647G>C (p.Glu549Asp)
c.1236G>C (p.Glu412Asp)
n.2759G>C
5g.13886073C>TCA443273718DNAH5c.2634G>A (p.Glu878=)
c.2589G>A (p.Glu863=)
n.2841G>A
c.2742G>A (p.Glu914=)
c.1647G>A (p.Glu549=)
c.1236G>A (p.Glu412=)
n.2759G>A
 COSMIC
5g.13886074T>ACA359196628DNAH5c.2633A>T (p.Glu878Val)
c.2588A>T (p.Glu863Val)
n.2840A>T
c.2741A>T (p.Glu914Val)
c.1646A>T (p.Glu549Val)
c.1235A>T (p.Glu412Val)
n.2758A>T
5g.13886074T>CCA359196630DNAH5c.2633A>G (p.Glu878Gly)
c.2588A>G (p.Glu863Gly)
n.2840A>G
c.2741A>G (p.Glu914Gly)
c.1646A>G (p.Glu549Gly)
c.1235A>G (p.Glu412Gly)
n.2758A>G
5g.13886074T>GCA359196633DNAH5c.2633A>C (p.Glu878Ala)
c.2588A>C (p.Glu863Ala)
n.2840A>C
c.2741A>C (p.Glu914Ala)
c.1646A>C (p.Glu549Ala)
c.1235A>C (p.Glu412Ala)
n.2758A>C
5g.13886075C>ACA359196636DNAH5c.2632G>T (p.Glu878Ter)
c.2587G>T (p.Glu863Ter)
n.2839G>T
c.2740G>T (p.Glu914Ter)
c.1645G>T (p.Glu549Ter)
c.1234G>T (p.Glu412Ter)
n.2757G>T
5g.13886075C>GCA359196639DNAH5c.2632G>C (p.Glu878Gln)
c.2587G>C (p.Glu863Gln)
n.2839G>C
c.2740G>C (p.Glu914Gln)
c.1645G>C (p.Glu549Gln)
c.1234G>C (p.Glu412Gln)
n.2757G>C
 gnomAD v4
5g.13886075C>TCA359196638DNAH5c.2632G>A (p.Glu878Lys)
c.2587G>A (p.Glu863Lys)
n.2839G>A
c.2740G>A (p.Glu914Lys)
c.1645G>A (p.Glu549Lys)
c.1234G>A (p.Glu412Lys)
n.2757G>A
 dbSNP
5g.13886076C>ACA359196641DNAH5c.2631G>T (p.Glu877Asp)
c.2586G>T (p.Glu862Asp)
n.2838G>T
c.2739G>T (p.Glu913Asp)
c.1644G>T (p.Glu548Asp)
c.1233G>T (p.Glu411Asp)
n.2756G>T
5g.13886076C>GCA359196643DNAH5c.2631G>C (p.Glu877Asp)
c.2586G>C (p.Glu862Asp)
n.2838G>C
c.2739G>C (p.Glu913Asp)
c.1644G>C (p.Glu548Asp)
c.1233G>C (p.Glu411Asp)
n.2756G>C
5g.13886076C>TCA443273719DNAH5c.2631G>A (p.Glu877=)
c.2586G>A (p.Glu862=)
n.2838G>A
c.2739G>A (p.Glu913=)
c.1644G>A (p.Glu548=)
c.1233G>A (p.Glu411=)
n.2756G>A
 gnomAD v4
5g.13886077T>ACA359196645DNAH5c.2630A>T (p.Glu877Val)
c.2585A>T (p.Glu862Val)
n.2837A>T
c.2738A>T (p.Glu913Val)
c.1643A>T (p.Glu548Val)
c.1232A>T (p.Glu411Val)
n.2755A>T
5g.13886077T>CCA359196648DNAH5c.2630A>G (p.Glu877Gly)
c.2585A>G (p.Glu862Gly)
n.2837A>G
c.2738A>G (p.Glu913Gly)
c.1643A>G (p.Glu548Gly)
c.1232A>G (p.Glu411Gly)
n.2755A>G
5g.13886077T>GCA359196650DNAH5c.2630A>C (p.Glu877Ala)
c.2585A>C (p.Glu862Ala)
n.2837A>C
c.2738A>C (p.Glu913Ala)
c.1643A>C (p.Glu548Ala)
c.1232A>C (p.Glu411Ala)
n.2755A>C
5g.13886078C>ACA359196654DNAH5c.2629G>T (p.Glu877Ter)
c.2584G>T (p.Glu862Ter)
n.2836G>T
c.2737G>T (p.Glu913Ter)
c.1642G>T (p.Glu548Ter)
c.1231G>T (p.Glu411Ter)
n.2754G>T
5g.13886078C>GCA359196656DNAH5c.2629G>C (p.Glu877Gln)
c.2584G>C (p.Glu862Gln)
n.2836G>C
c.2737G>C (p.Glu913Gln)
c.1642G>C (p.Glu548Gln)
c.1231G>C (p.Glu411Gln)
n.2754G>C
5g.13886078C>TCA359196658DNAH5c.2629G>A (p.Glu877Lys)
c.2584G>A (p.Glu862Lys)
n.2836G>A
c.2737G>A (p.Glu913Lys)
c.1642G>A (p.Glu548Lys)
c.1231G>A (p.Glu411Lys)
n.2754G>A
5g.13886079C>ACA443273721DNAH5c.2628G>T (p.Val876=)
c.2583G>T (p.Val861=)
n.2835G>T
c.2736G>T (p.Val912=)
c.1641G>T (p.Val547=)
c.1230G>T (p.Val410=)
n.2753G>T
 gnomAD v4
5g.13886079C=CA1528483829DNAH5c.2628G= (p.Val876=)
c.2583G= (p.Val861=)
n.2835G=
c.2736G= (p.Val912=)
c.1641G= (p.Val547=)
c.1230G= (p.Val410=)
n.2753G=
5g.13886079C>GCA443273722DNAH5c.2628G>C (p.Val876=)
c.2583G>C (p.Val861=)
n.2835G>C
c.2736G>C (p.Val912=)
c.1641G>C (p.Val547=)
c.1230G>C (p.Val410=)
n.2753G>C
5g.13886079C>TCA443273720DNAH5c.2628G>A (p.Val876=)
c.2583G>A (p.Val861=)
n.2835G>A
c.2736G>A (p.Val912=)
c.1641G>A (p.Val547=)
c.1230G>A (p.Val410=)
n.2753G>A
 dbSNP gnomAD v2 gnomAD v4
5g.13886080A>CCA359196662DNAH5c.2627T>G (p.Val876Gly)
c.2582T>G (p.Val861Gly)
n.2834T>G
c.2735T>G (p.Val912Gly)
c.1640T>G (p.Val547Gly)
c.1229T>G (p.Val410Gly)
n.2752T>G
5g.13886080A>GCA359196664DNAH5c.2627T>C (p.Val876Ala)
c.2582T>C (p.Val861Ala)
n.2834T>C
c.2735T>C (p.Val912Ala)
c.1640T>C (p.Val547Ala)
c.1229T>C (p.Val410Ala)
n.2752T>C
5g.13886080A>TCA359196667DNAH5c.2627T>A (p.Val876Glu)
c.2582T>A (p.Val861Glu)
n.2834T>A
c.2735T>A (p.Val912Glu)
c.1640T>A (p.Val547Glu)
c.1229T>A (p.Val410Glu)
n.2752T>A
5g.13886081C>ACA359196674DNAH5c.2626G>T (p.Val876Leu)
c.2581G>T (p.Val861Leu)
n.2833G>T
c.2734G>T (p.Val912Leu)
c.1639G>T (p.Val547Leu)
c.1228G>T (p.Val410Leu)
n.2751G>T
5g.13886081C=CA1528483830DNAH5c.2626G= (p.Val876=)
c.2581G= (p.Val861=)
n.2833G=
c.2734G= (p.Val912=)
c.1639G= (p.Val547=)
c.1228G= (p.Val410=)
n.2751G=
5g.13886081C>GCA359196671DNAH5c.2626G>C (p.Val876Leu)
c.2581G>C (p.Val861Leu)
n.2833G>C
c.2734G>C (p.Val912Leu)
c.1639G>C (p.Val547Leu)
c.1228G>C (p.Val410Leu)
n.2751G>C
5g.13886081C>TCA113933815DNAH5c.2626G>A (p.Val876Met)
c.2581G>A (p.Val861Met)
n.2833G>A
c.2734G>A (p.Val912Met)
c.1639G>A (p.Val547Met)
c.1228G>A (p.Val410Met)
n.2751G>A
 dbSNP
5g.13886082T>ACA359196677DNAH5c.2625A>T (p.Leu875Phe)
c.2580A>T (p.Leu860Phe)
n.2832A>T
c.2733A>T (p.Leu911Phe)
c.1638A>T (p.Leu546Phe)
c.1227A>T (p.Leu409Phe)
n.2750A>T
5g.13886082T>CCA443273723DNAH5c.2625A>G (p.Leu875=)
c.2580A>G (p.Leu860=)
n.2832A>G
c.2733A>G (p.Leu911=)
c.1638A>G (p.Leu546=)
c.1227A>G (p.Leu409=)
n.2750A>G
5g.13886082T>GCA359196680DNAH5c.2625A>C (p.Leu875Phe)
c.2580A>C (p.Leu860Phe)
n.2832A>C
c.2733A>C (p.Leu911Phe)
c.1638A>C (p.Leu546Phe)
c.1227A>C (p.Leu409Phe)
n.2750A>C
5g.13886083A>CCA359196682DNAH5c.2624T>G (p.Leu875Ter)
c.2579T>G (p.Leu860Ter)
n.2831T>G
c.2732T>G (p.Leu911Ter)
c.1637T>G (p.Leu546Ter)
c.1226T>G (p.Leu409Ter)
n.2749T>G
5g.13886083A>GCA359196683DNAH5c.2624T>C (p.Leu875Ser)
c.2579T>C (p.Leu860Ser)
n.2831T>C
c.2732T>C (p.Leu911Ser)
c.1637T>C (p.Leu546Ser)
c.1226T>C (p.Leu409Ser)
n.2749T>C
5g.13886083A>TCA359196685DNAH5c.2624T>A (p.Leu875Ter)
c.2579T>A (p.Leu860Ter)
n.2831T>A
c.2732T>A (p.Leu911Ter)
c.1637T>A (p.Leu546Ter)
c.1226T>A (p.Leu409Ter)
n.2749T>A
5g.13886084A>CCA359196688DNAH5c.2623T>G (p.Leu875Val)
c.2578T>G (p.Leu860Val)
n.2830T>G
c.2731T>G (p.Leu911Val)
c.1636T>G (p.Leu546Val)
c.1225T>G (p.Leu409Val)
n.2748T>G
5g.13886084A>GCA443273724DNAH5c.2623T>C (p.Leu875=)
c.2578T>C (p.Leu860=)
n.2830T>C
c.2731T>C (p.Leu911=)
c.1636T>C (p.Leu546=)
c.1225T>C (p.Leu409=)
n.2748T>C
 ClinVar dbSNP gnomAD v4
5g.13886084A>TCA359196690DNAH5c.2623T>A (p.Leu875Ile)
c.2578T>A (p.Leu860Ile)
n.2830T>A
c.2731T>A (p.Leu911Ile)
c.1636T>A (p.Leu546Ile)
c.1225T>A (p.Leu409Ile)
n.2748T>A
5g.13886085T>ACA443273727DNAH5c.2622A>T (p.Ser874=)
c.2577A>T (p.Ser859=)
n.2829A>T
c.2730A>T (p.Ser910=)
c.1635A>T (p.Ser545=)
c.1224A>T (p.Ser408=)
n.2747A>T
 gnomAD v4
5g.13886085T>CCA443273725DNAH5c.2622A>G (p.Ser874=)
c.2577A>G (p.Ser859=)
n.2829A>G
c.2730A>G (p.Ser910=)
c.1635A>G (p.Ser545=)
c.1224A>G (p.Ser408=)
n.2747A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13886085T>GCA443273726DNAH5c.2622A>C (p.Ser874=)
c.2577A>C (p.Ser859=)
n.2829A>C
c.2730A>C (p.Ser910=)
c.1635A>C (p.Ser545=)
c.1224A>C (p.Ser408=)
n.2747A>C
 gnomAD v4
5g.13886085T=CA1528483831DNAH5c.2622A= (p.Ser874=)
c.2577A= (p.Ser859=)
n.2829A=
c.2730A= (p.Ser910=)
c.1635A= (p.Ser545=)
c.1224A= (p.Ser408=)
n.2747A=
5g.13886086G>ACA359196696DNAH5c.2621C>T (p.Ser874Leu)
c.2576C>T (p.Ser859Leu)
n.2828C>T
c.2729C>T (p.Ser910Leu)
c.1634C>T (p.Ser545Leu)
c.1223C>T (p.Ser408Leu)
n.2746C>T
5g.13886086G>CCA359196692DNAH5c.2621C>G (p.Ser874Ter)
c.2576C>G (p.Ser859Ter)
n.2828C>G
c.2729C>G (p.Ser910Ter)
c.1634C>G (p.Ser545Ter)
c.1223C>G (p.Ser408Ter)
n.2746C>G
5g.13886086G>TCA359196694DNAH5c.2621C>A (p.Ser874Ter)
c.2576C>A (p.Ser859Ter)
n.2828C>A
c.2729C>A (p.Ser910Ter)
c.1634C>A (p.Ser545Ter)
c.1223C>A (p.Ser408Ter)
n.2746C>A
5g.13886087A>CCA359196698DNAH5c.2620T>G (p.Ser874Ala)
c.2575T>G (p.Ser859Ala)
n.2827T>G
c.2728T>G (p.Ser910Ala)
c.1633T>G (p.Ser545Ala)
c.1222T>G (p.Ser408Ala)
n.2745T>G
5g.13886087A>GCA359196700DNAH5c.2620T>C (p.Ser874Pro)
c.2575T>C (p.Ser859Pro)
n.2827T>C
c.2728T>C (p.Ser910Pro)
c.1633T>C (p.Ser545Pro)
c.1222T>C (p.Ser408Pro)
n.2745T>C
 gnomAD v4
5g.13886087A>TCA359196702DNAH5c.2620T>A (p.Ser874Thr)
c.2575T>A (p.Ser859Thr)
n.2827T>A
c.2728T>A (p.Ser910Thr)
c.1633T>A (p.Ser545Thr)
c.1222T>A (p.Ser408Thr)
n.2745T>A
5g.13886088G>ACA443273728DNAH5c.2619C>T (p.Ser873=)
c.2574C>T (p.Ser858=)
n.2826C>T
c.2727C>T (p.Ser909=)
c.1632C>T (p.Ser544=)
c.1221C>T (p.Ser407=)
n.2744C>T
5g.13886088G>CCA359196705DNAH5c.2619C>G (p.Ser873Arg)
c.2574C>G (p.Ser858Arg)
n.2826C>G
c.2727C>G (p.Ser909Arg)
c.1632C>G (p.Ser544Arg)
c.1221C>G (p.Ser407Arg)
n.2744C>G
5g.13886088G>TCA359196707DNAH5c.2619C>A (p.Ser873Arg)
c.2574C>A (p.Ser858Arg)
n.2826C>A
c.2727C>A (p.Ser909Arg)
c.1632C>A (p.Ser544Arg)
c.1221C>A (p.Ser407Arg)
n.2744C>A
5g.13886089C>ACA359196712DNAH5c.2618G>T (p.Ser873Ile)
c.2573G>T (p.Ser858Ile)
n.2825G>T
c.2726G>T (p.Ser909Ile)
c.1631G>T (p.Ser544Ile)
c.1220G>T (p.Ser407Ile)
n.2743G>T
5g.13886089C=CA1528483832DNAH5c.2618G= (p.Ser873=)
c.2573G= (p.Ser858=)
n.2825G=
c.2726G= (p.Ser909=)
c.1631G= (p.Ser544=)
c.1220G= (p.Ser407=)
n.2743G=
5g.13886089C>GCA359196710DNAH5c.2618G>C (p.Ser873Thr)
c.2573G>C (p.Ser858Thr)
n.2825G>C
c.2726G>C (p.Ser909Thr)
c.1631G>C (p.Ser544Thr)
c.1220G>C (p.Ser407Thr)
n.2743G>C
5g.13886089C>TCA3204527DNAH5c.2618G>A (p.Ser873Asn)
c.2573G>A (p.Ser858Asn)
n.2825G>A
c.2726G>A (p.Ser909Asn)
c.1631G>A (p.Ser544Asn)
c.1220G>A (p.Ser407Asn)
n.2743G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13886090T>ACA359196716DNAH5c.2617A>T (p.Ser873Cys)
c.2572A>T (p.Ser858Cys)
n.2824A>T
c.2725A>T (p.Ser909Cys)
c.1630A>T (p.Ser544Cys)
c.1219A>T (p.Ser407Cys)
n.2742A>T
5g.13886090T>CCA359196719DNAH5c.2617A>G (p.Ser873Gly)
c.2572A>G (p.Ser858Gly)
n.2824A>G
c.2725A>G (p.Ser909Gly)
c.1630A>G (p.Ser544Gly)
c.1219A>G (p.Ser407Gly)
n.2742A>G
 gnomAD v4
5g.13886090T>GCA359196721DNAH5c.2617A>C (p.Ser873Arg)
c.2572A>C (p.Ser858Arg)
n.2824A>C
c.2725A>C (p.Ser909Arg)
c.1630A>C (p.Ser544Arg)
c.1219A>C (p.Ser407Arg)
n.2742A>C
5g.13886091T>ACA359196723DNAH5c.2616A>T (p.Lys872Asn)
c.2571A>T (p.Lys857Asn)
n.2823A>T
c.2724A>T (p.Lys908Asn)
c.1629A>T (p.Lys543Asn)
c.1218A>T (p.Lys406Asn)
n.2741A>T
5g.13886091T>CCA443273729DNAH5c.2616A>G (p.Lys872=)
c.2571A>G (p.Lys857=)
n.2823A>G
c.2724A>G (p.Lys908=)
c.1629A>G (p.Lys543=)
c.1218A>G (p.Lys406=)
n.2741A>G
5g.13886091T>GCA359196726DNAH5c.2616A>C (p.Lys872Asn)
c.2571A>C (p.Lys857Asn)
n.2823A>C
c.2724A>C (p.Lys908Asn)
c.1629A>C (p.Lys543Asn)
c.1218A>C (p.Lys406Asn)
n.2741A>C
5g.13886092T>ACA359196730DNAH5c.2615A>T (p.Lys872Ile)
c.2570A>T (p.Lys857Ile)
n.2822A>T
c.2723A>T (p.Lys908Ile)
c.1628A>T (p.Lys543Ile)
c.1217A>T (p.Lys406Ile)
n.2740A>T
 gnomAD v4
5g.13886092T>CCA359196732DNAH5c.2615A>G (p.Lys872Arg)
c.2570A>G (p.Lys857Arg)
n.2822A>G
c.2723A>G (p.Lys908Arg)
c.1628A>G (p.Lys543Arg)
c.1217A>G (p.Lys406Arg)
n.2740A>G
 gnomAD v4 COSMIC
5g.13886092T>GCA359196741DNAH5c.2615A>C (p.Lys872Thr)
c.2570A>C (p.Lys857Thr)
n.2822A>C
c.2723A>C (p.Lys908Thr)
c.1628A>C (p.Lys543Thr)
c.1217A>C (p.Lys406Thr)
n.2740A>C
 gnomAD v4
5g.13886093T>ACA359196743DNAH5c.2614A>T (p.Lys872Ter)
c.2569A>T (p.Lys857Ter)
n.2821A>T
c.2722A>T (p.Lys908Ter)
c.1627A>T (p.Lys543Ter)
c.1216A>T (p.Lys406Ter)
n.2739A>T
 gnomAD v4
5g.13886093T>CCA359196747DNAH5c.2614A>G (p.Lys872Glu)
c.2569A>G (p.Lys857Glu)
n.2821A>G
c.2722A>G (p.Lys908Glu)
c.1627A>G (p.Lys543Glu)
c.1216A>G (p.Lys406Glu)
n.2739A>G
5g.13886093T>GCA359196748DNAH5c.2614A>C (p.Lys872Gln)
c.2569A>C (p.Lys857Gln)
n.2821A>C
c.2722A>C (p.Lys908Gln)
c.1627A>C (p.Lys543Gln)
c.1216A>C (p.Lys406Gln)
n.2739A>C
5g.13886094A>CCA359196751DNAH5c.2613T>G (p.Phe871Leu)
c.2568T>G (p.Phe856Leu)
n.2820T>G
c.2721T>G (p.Phe907Leu)
c.1626T>G (p.Phe542Leu)
c.1215T>G (p.Phe405Leu)
n.2738T>G
5g.13886094A>GCA443273730DNAH5c.2613T>C (p.Phe871=)
c.2568T>C (p.Phe856=)
n.2820T>C
c.2721T>C (p.Phe907=)
c.1626T>C (p.Phe542=)
c.1215T>C (p.Phe405=)
n.2738T>C
 gnomAD v4
5g.13886094A>TCA359196762DNAH5c.2613T>A (p.Phe871Leu)
c.2568T>A (p.Phe856Leu)
n.2820T>A
c.2721T>A (p.Phe907Leu)
c.1626T>A (p.Phe542Leu)
c.1215T>A (p.Phe405Leu)
n.2738T>A
 gnomAD v4
5g.13886095A>CCA359196765DNAH5c.2612T>G (p.Phe871Cys)
c.2567T>G (p.Phe856Cys)
n.2819T>G
c.2720T>G (p.Phe907Cys)
c.1625T>G (p.Phe542Cys)
c.1214T>G (p.Phe405Cys)
n.2737T>G
5g.13886095A>GCA359196769DNAH5c.2612T>C (p.Phe871Ser)
c.2567T>C (p.Phe856Ser)
n.2819T>C
c.2720T>C (p.Phe907Ser)
c.1625T>C (p.Phe542Ser)
c.1214T>C (p.Phe405Ser)
n.2737T>C
5g.13886095A>TCA359196767DNAH5c.2612T>A (p.Phe871Tyr)
c.2567T>A (p.Phe856Tyr)
n.2819T>A
c.2720T>A (p.Phe907Tyr)
c.1625T>A (p.Phe542Tyr)
c.1214T>A (p.Phe405Tyr)
n.2737T>A
5g.13886096A>CCA359196771DNAH5c.2611T>G (p.Phe871Val)
c.2566T>G (p.Phe856Val)
n.2818T>G
c.2719T>G (p.Phe907Val)
c.1624T>G (p.Phe542Val)
c.1213T>G (p.Phe405Val)
n.2736T>G
5g.13886096A>GCA359196773DNAH5c.2611T>C (p.Phe871Leu)
c.2566T>C (p.Phe856Leu)
n.2818T>C
c.2719T>C (p.Phe907Leu)
c.1624T>C (p.Phe542Leu)
c.1213T>C (p.Phe405Leu)
n.2736T>C
5g.13886096A>TCA359196775DNAH5c.2611T>A (p.Phe871Ile)
c.2566T>A (p.Phe856Ile)
n.2818T>A
c.2719T>A (p.Phe907Ile)
c.1624T>A (p.Phe542Ile)
c.1213T>A (p.Phe405Ile)
n.2736T>A
5g.13886097A=CA1528483833DNAH5c.2610T= (p.His870=)
c.2565T= (p.His855=)
n.2817T=
c.2718T= (p.His906=)
c.1623T= (p.His541=)
c.1212T= (p.His404=)
n.2735T=
5g.13886097A>CCA359196777DNAH5c.2610T>G (p.His870Gln)
c.2565T>G (p.His855Gln)
n.2817T>G
c.2718T>G (p.His906Gln)
c.1623T>G (p.His541Gln)
c.1212T>G (p.His404Gln)
n.2735T>G
 gnomAD v4
5g.13886097A>GCA443273731DNAH5c.2610T>C (p.His870=)
c.2565T>C (p.His855=)
n.2817T>C
c.2718T>C (p.His906=)
c.1623T>C (p.His541=)
c.1212T>C (p.His404=)
n.2735T>C
 dbSNP gnomAD v2 gnomAD v4
5g.13886097A>TCA359196780DNAH5c.2610T>A (p.His870Gln)
c.2565T>A (p.His855Gln)
n.2817T>A
c.2718T>A (p.His906Gln)
c.1623T>A (p.His541Gln)
c.1212T>A (p.His404Gln)
n.2735T>A
5g.13886098T>ACA359196786DNAH5c.2609A>T (p.His870Leu)
c.2564A>T (p.His855Leu)
n.2816A>T
c.2717A>T (p.His906Leu)
c.1622A>T (p.His541Leu)
c.1211A>T (p.His404Leu)
n.2734A>T
5g.13886098T>CCA3204528DNAH5c.2609A>G (p.His870Arg)
c.2564A>G (p.His855Arg)
n.2816A>G
c.2717A>G (p.His906Arg)
c.1622A>G (p.His541Arg)
c.1211A>G (p.His404Arg)
n.2734A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13886098T>GCA359196789DNAH5c.2609A>C (p.His870Pro)
c.2564A>C (p.His855Pro)
n.2816A>C
c.2717A>C (p.His906Pro)
c.1622A>C (p.His541Pro)
c.1211A>C (p.His404Pro)
n.2734A>C
5g.13886098T=CA1528483834DNAH5c.2609A= (p.His870=)
c.2564A= (p.His855=)
n.2816A=
c.2717A= (p.His906=)
c.1622A= (p.His541=)
c.1211A= (p.His404=)
n.2734A=
5g.13886099G>ACA359196791DNAH5c.2608C>T (p.His870Tyr)
c.2563C>T (p.His855Tyr)
n.2815C>T
c.2716C>T (p.His906Tyr)
c.1621C>T (p.His541Tyr)
c.1210C>T (p.His404Tyr)
n.2733C>T
 COSMIC
5g.13886099G>CCA359196794DNAH5c.2608C>G (p.His870Asp)
c.2563C>G (p.His855Asp)
n.2815C>G
c.2716C>G (p.His906Asp)
c.1621C>G (p.His541Asp)
c.1210C>G (p.His404Asp)
n.2733C>G
5g.13886099G>TCA359196797DNAH5c.2608C>A (p.His870Asn)
c.2563C>A (p.His855Asn)
n.2815C>A
c.2716C>A (p.His906Asn)
c.1621C>A (p.His541Asn)
c.1210C>A (p.His404Asn)
n.2733C>A
 gnomAD v4
5g.13886100T>ACA443273732DNAH5c.2607A>T (p.Leu869=)
c.2562A>T (p.Leu854=)
n.2814A>T
c.2715A>T (p.Leu905=)
c.1620A>T (p.Leu540=)
c.1209A>T (p.Leu403=)
n.2732A>T
5g.13886100T>CCA443273733DNAH5c.2607A>G (p.Leu869=)
c.2562A>G (p.Leu854=)
n.2814A>G
c.2715A>G (p.Leu905=)
c.1620A>G (p.Leu540=)
c.1209A>G (p.Leu403=)
n.2732A>G
 dbSNP gnomAD v4
5g.13886100T>GCA443273734DNAH5c.2607A>C (p.Leu869=)
c.2562A>C (p.Leu854=)
n.2814A>C
c.2715A>C (p.Leu905=)
c.1620A>C (p.Leu540=)
c.1209A>C (p.Leu403=)
n.2732A>C
 dbSNP gnomAD v2 gnomAD v4
5g.13886100T=CA1528483835DNAH5c.2607A= (p.Leu869=)
c.2562A= (p.Leu854=)
n.2814A=
c.2715A= (p.Leu905=)
c.1620A= (p.Leu540=)
c.1209A= (p.Leu403=)
n.2732A=
5g.13886101A>CCA359196799DNAH5c.2606T>G (p.Leu869Arg)
c.2561T>G (p.Leu854Arg)
n.2813T>G
c.2714T>G (p.Leu905Arg)
c.1619T>G (p.Leu540Arg)
c.1208T>G (p.Leu403Arg)
n.2731T>G
5g.13886101A>GCA359196801DNAH5c.2606T>C (p.Leu869Pro)
c.2561T>C (p.Leu854Pro)
n.2813T>C
c.2714T>C (p.Leu905Pro)
c.1619T>C (p.Leu540Pro)
c.1208T>C (p.Leu403Pro)
n.2731T>C
5g.13886101A>TCA359196803DNAH5c.2606T>A (p.Leu869Gln)
c.2561T>A (p.Leu854Gln)
n.2813T>A
c.2714T>A (p.Leu905Gln)
c.1619T>A (p.Leu540Gln)
c.1208T>A (p.Leu403Gln)
n.2731T>A
 gnomAD v4
5g.13886102G>ACA443273736DNAH5c.2605C>T (p.Leu869=)
c.2560C>T (p.Leu854=)
n.2812C>T
c.2713C>T (p.Leu905=)
c.1618C>T (p.Leu540=)
c.1207C>T (p.Leu403=)
n.2730C>T
 gnomAD v4
5g.13886102G>CCA359196806DNAH5c.2605C>G (p.Leu869Val)
c.2560C>G (p.Leu854Val)
n.2812C>G
c.2713C>G (p.Leu905Val)
c.1618C>G (p.Leu540Val)
c.1207C>G (p.Leu403Val)
n.2730C>G
5g.13886102G>TCA359196808DNAH5c.2605C>A (p.Leu869Ile)
c.2560C>A (p.Leu854Ile)
n.2812C>A
c.2713C>A (p.Leu905Ile)
c.1618C>A (p.Leu540Ile)
c.1207C>A (p.Leu403Ile)
n.2730C>A
 dbSNP gnomAD v4
5g.13886103T>ACA443273737DNAH5c.2604A>T (p.Ile868=)
c.2559A>T (p.Ile853=)
n.2811A>T
c.2712A>T (p.Ile904=)
c.1617A>T (p.Ile539=)
c.1206A>T (p.Ile402=)
n.2729A>T
 gnomAD v4
5g.13886103T>CCA359196815DNAH5c.2604A>G (p.Ile868Met)
c.2559A>G (p.Ile853Met)
n.2811A>G
c.2712A>G (p.Ile904Met)
c.1617A>G (p.Ile539Met)
c.1206A>G (p.Ile402Met)
n.2729A>G
5g.13886103T>GCA443273738DNAH5c.2604A>C (p.Ile868=)
c.2559A>C (p.Ile853=)
n.2811A>C
c.2712A>C (p.Ile904=)
c.1617A>C (p.Ile539=)
c.1206A>C (p.Ile402=)
n.2729A>C
5g.13886104A=CA1528483836DNAH5c.2603T= (p.Ile868=)
c.2558T= (p.Ile853=)
n.2810T=
c.2711T= (p.Ile904=)
c.1616T= (p.Ile539=)
c.1205T= (p.Ile402=)
n.2728T=
5g.13886104A>CCA359196818DNAH5c.2603T>G (p.Ile868Arg)
c.2558T>G (p.Ile853Arg)
n.2810T>G
c.2711T>G (p.Ile904Arg)
c.1616T>G (p.Ile539Arg)
c.1205T>G (p.Ile402Arg)
n.2728T>G
5g.13886104A>GCA359196819DNAH5c.2603T>C (p.Ile868Thr)
c.2558T>C (p.Ile853Thr)
n.2810T>C
c.2711T>C (p.Ile904Thr)
c.1616T>C (p.Ile539Thr)
c.1205T>C (p.Ile402Thr)
n.2728T>C
 dbSNP gnomAD v2 gnomAD v4
5g.13886104A>TCA359196820DNAH5c.2603T>A (p.Ile868Lys)
c.2558T>A (p.Ile853Lys)
n.2810T>A
c.2711T>A (p.Ile904Lys)
c.1616T>A (p.Ile539Lys)
c.1205T>A (p.Ile402Lys)
n.2728T>A
5g.13886105T>ACA359196823DNAH5c.2602A>T (p.Ile868Leu)
c.2557A>T (p.Ile853Leu)
n.2809A>T
c.2710A>T (p.Ile904Leu)
c.1615A>T (p.Ile539Leu)
c.1204A>T (p.Ile402Leu)
n.2727A>T
 gnomAD v4
5g.13886105T>CCA359196825DNAH5c.2602A>G (p.Ile868Val)
c.2557A>G (p.Ile853Val)
n.2809A>G
c.2710A>G (p.Ile904Val)
c.1615A>G (p.Ile539Val)
c.1204A>G (p.Ile402Val)
n.2727A>G
 dbSNP
5g.13886105T>GCA359196826DNAH5c.2602A>C (p.Ile868Leu)
c.2557A>C (p.Ile853Leu)
n.2809A>C
c.2710A>C (p.Ile904Leu)
c.1615A>C (p.Ile539Leu)
c.1204A>C (p.Ile402Leu)
n.2727A>C
5g.13886105T=CA1528483837DNAH5c.2602A= (p.Ile868=)
c.2557A= (p.Ile853=)
n.2809A=
c.2710A= (p.Ile904=)
c.1615A= (p.Ile539=)
c.1204A= (p.Ile402=)
n.2727A=
5g.13886106T>ACA359196830DNAH5c.2601A>T (p.Gln867His)
c.2556A>T (p.Gln852His)
n.2808A>T
c.2709A>T (p.Gln903His)
c.1614A>T (p.Gln538His)
c.1203A>T (p.Gln401His)
n.2726A>T
 gnomAD v4
5g.13886106T>CCA443273739DNAH5c.2601A>G (p.Gln867=)
c.2556A>G (p.Gln852=)
n.2808A>G
c.2709A>G (p.Gln903=)
c.1614A>G (p.Gln538=)
c.1203A>G (p.Gln401=)
n.2726A>G
 dbSNP gnomAD v2 gnomAD v4
5g.13886106T>GCA359196832DNAH5c.2601A>C (p.Gln867His)
c.2556A>C (p.Gln852His)
n.2808A>C
c.2709A>C (p.Gln903His)
c.1614A>C (p.Gln538His)
c.1203A>C (p.Gln401His)
n.2726A>C
 dbSNP gnomAD v4
5g.13886106T=CA1528483838DNAH5c.2601A= (p.Gln867=)
c.2556A= (p.Gln852=)
n.2808A=
c.2709A= (p.Gln903=)
c.1614A= (p.Gln538=)
c.1203A= (p.Gln401=)
n.2726A=
5g.13886107T>ACA359196833DNAH5c.2600A>T (p.Gln867Leu)
c.2555A>T (p.Gln852Leu)
n.2807A>T
c.2708A>T (p.Gln903Leu)
c.1613A>T (p.Gln538Leu)
c.1202A>T (p.Gln401Leu)
n.2725A>T
5g.13886107T>CCA359196834DNAH5c.2600A>G (p.Gln867Arg)
c.2555A>G (p.Gln852Arg)
n.2807A>G
c.2708A>G (p.Gln903Arg)
c.1613A>G (p.Gln538Arg)
c.1202A>G (p.Gln401Arg)
n.2725A>G
5g.13886107T>GCA359196835DNAH5c.2600A>C (p.Gln867Pro)
c.2555A>C (p.Gln852Pro)
n.2807A>C
c.2708A>C (p.Gln903Pro)
c.1613A>C (p.Gln538Pro)
c.1202A>C (p.Gln401Pro)
n.2725A>C
5g.13886108G>ACA359196843DNAH5c.2599C>T (p.Gln867Ter)
c.2554C>T (p.Gln852Ter)
n.2806C>T
c.2707C>T (p.Gln903Ter)
c.1612C>T (p.Gln538Ter)
c.1201C>T (p.Gln401Ter)
n.2724C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13886108G>CCA359196837DNAH5c.2599C>G (p.Gln867Glu)
c.2554C>G (p.Gln852Glu)
n.2806C>G
c.2707C>G (p.Gln903Glu)
c.1612C>G (p.Gln538Glu)
c.1201C>G (p.Gln401Glu)
n.2724C>G
5g.13886108G=CA1528483839DNAH5c.2599C= (p.Gln867=)
c.2554C= (p.Gln852=)
n.2806C=
c.2707C= (p.Gln903=)
c.1612C= (p.Gln538=)
c.1201C= (p.Gln401=)
n.2724C=
5g.13886108G>TCA359196839DNAH5c.2599C>A (p.Gln867Lys)
c.2554C>A (p.Gln852Lys)
n.2806C>A
c.2707C>A (p.Gln903Lys)
c.1612C>A (p.Gln538Lys)
c.1201C>A (p.Gln401Lys)
n.2724C>A
 dbSNP gnomAD v2 gnomAD v4
5g.13886109T>ACA443273740DNAH5c.2598A>T (p.Ala866=)
c.2553A>T (p.Ala851=)
n.2805A>T
c.2706A>T (p.Ala902=)
c.1611A>T (p.Ala537=)
c.1200A>T (p.Ala400=)
n.2723A>T
5g.13886109T>CCA443273741DNAH5c.2598A>G (p.Ala866=)
c.2553A>G (p.Ala851=)
n.2805A>G
c.2706A>G (p.Ala902=)
c.1611A>G (p.Ala537=)
c.1200A>G (p.Ala400=)
n.2723A>G
 ClinVar
5g.13886109T>GCA443273742DNAH5c.2598A>C (p.Ala866=)
c.2553A>C (p.Ala851=)
n.2805A>C
c.2706A>C (p.Ala902=)
c.1611A>C (p.Ala537=)
c.1200A>C (p.Ala400=)
n.2723A>C
5g.13886110G>ACA359196844DNAH5c.2597C>T (p.Ala866Val)
c.2552C>T (p.Ala851Val)
n.2804C>T
c.2705C>T (p.Ala902Val)
c.1610C>T (p.Ala537Val)
c.1199C>T (p.Ala400Val)
n.2722C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13886110G>CCA359196846DNAH5c.2597C>G (p.Ala866Gly)
c.2552C>G (p.Ala851Gly)
n.2804C>G
c.2705C>G (p.Ala902Gly)
c.1610C>G (p.Ala537Gly)
c.1199C>G (p.Ala400Gly)
n.2722C>G
5g.13886110G=CA1528483840DNAH5c.2597C= (p.Ala866=)
c.2552C= (p.Ala851=)
n.2804C=
c.2705C= (p.Ala902=)
c.1610C= (p.Ala537=)
c.1199C= (p.Ala400=)
n.2722C=
5g.13886110G>TCA3204529DNAH5c.2597C>A (p.Ala866Glu)
c.2552C>A (p.Ala851Glu)
n.2804C>A
c.2705C>A (p.Ala902Glu)
c.1610C>A (p.Ala537Glu)
c.1199C>A (p.Ala400Glu)
n.2722C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13886111C>ACA359196852DNAH5c.2596G>T (p.Ala866Ser)
c.2551G>T (p.Ala851Ser)
n.2803G>T
c.2704G>T (p.Ala902Ser)
c.1609G>T (p.Ala537Ser)
c.1198G>T (p.Ala400Ser)
n.2721G>T
 gnomAD v3 gnomAD v4
5g.13886111C>GCA359196858DNAH5c.2596G>C (p.Ala866Pro)
c.2551G>C (p.Ala851Pro)
n.2803G>C
c.2704G>C (p.Ala902Pro)
c.1609G>C (p.Ala537Pro)
c.1198G>C (p.Ala400Pro)
n.2721G>C
5g.13886111C>TCA359196859DNAH5c.2596G>A (p.Ala866Thr)
c.2551G>A (p.Ala851Thr)
n.2803G>A
c.2704G>A (p.Ala902Thr)
c.1609G>A (p.Ala537Thr)
c.1198G>A (p.Ala400Thr)
n.2721G>A
 gnomAD v4
5g.13886112A>CCA443273743DNAH5c.2595T>G (p.Gly865=)
c.2550T>G (p.Gly850=)
n.2802T>G
c.2703T>G (p.Gly901=)
c.1608T>G (p.Gly536=)
c.1197T>G (p.Gly399=)
n.2720T>G
 dbSNP gnomAD v4
5g.13886112A>GCA443273745DNAH5c.2595T>C (p.Gly865=)
c.2550T>C (p.Gly850=)
n.2802T>C
c.2703T>C (p.Gly901=)
c.1608T>C (p.Gly536=)
c.1197T>C (p.Gly399=)
n.2720T>C
 gnomAD v4
5g.13886112A>TCA443273744DNAH5c.2595T>A (p.Gly865=)
c.2550T>A (p.Gly850=)
n.2802T>A
c.2703T>A (p.Gly901=)
c.1608T>A (p.Gly536=)
c.1197T>A (p.Gly399=)
n.2720T>A
5g.13886113C>ACA10619137DNAH5c.2594G>T (p.Gly865Val)
c.2549G>T (p.Gly850Val)
n.2801G>T
c.2702G>T (p.Gly901Val)
c.1607G>T (p.Gly536Val)
c.1196G>T (p.Gly399Val)
n.2719G>T
 ClinVar dbSNP gnomAD v4
5g.13886113C=CA1528483841DNAH5c.2594G= (p.Gly865=)
c.2549G= (p.Gly850=)
n.2801G=
c.2702G= (p.Gly901=)
c.1607G= (p.Gly536=)
c.1196G= (p.Gly399=)
n.2719G=
5g.13886113C>GCA359196861DNAH5c.2594G>C (p.Gly865Ala)
c.2549G>C (p.Gly850Ala)
n.2801G>C
c.2702G>C (p.Gly901Ala)
c.1607G>C (p.Gly536Ala)
c.1196G>C (p.Gly399Ala)
n.2719G>C
 dbSNP gnomAD v3 gnomAD v4
5g.13886113C>TCA359196862DNAH5c.2594G>A (p.Gly865Asp)
c.2549G>A (p.Gly850Asp)
n.2801G>A
c.2702G>A (p.Gly901Asp)
c.1607G>A (p.Gly536Asp)
c.1196G>A (p.Gly399Asp)
n.2719G>A
 dbSNP gnomAD v4
5g.13886114C>ACA359196865DNAH5c.2593G>T (p.Gly865Cys)
c.2548G>T (p.Gly850Cys)
n.2800G>T
c.2701G>T (p.Gly901Cys)
c.1606G>T (p.Gly536Cys)
c.1195G>T (p.Gly399Cys)
n.2718G>T
 gnomAD v3 gnomAD v4
5g.13886114C=CA1528483842DNAH5c.2593G= (p.Gly865=)
c.2548G= (p.Gly850=)
n.2800G=
c.2701G= (p.Gly901=)
c.1606G= (p.Gly536=)
c.1195G= (p.Gly399=)
n.2718G=
5g.13886114C>GCA359196868DNAH5c.2593G>C (p.Gly865Arg)
c.2548G>C (p.Gly850Arg)
n.2800G>C
c.2701G>C (p.Gly901Arg)
c.1606G>C (p.Gly536Arg)
c.1195G>C (p.Gly399Arg)
n.2718G>C
5g.13886114C>TCA113933830DNAH5c.2593G>A (p.Gly865Ser)
c.2548G>A (p.Gly850Ser)
n.2800G>A
c.2701G>A (p.Gly901Ser)
c.1606G>A (p.Gly536Ser)
c.1195G>A (p.Gly399Ser)
n.2718G>A
 dbSNP
5g.13886115A>CCA359196872DNAH5c.2592T>G (p.Asn864Lys)
c.2547T>G (p.Asn849Lys)
n.2799T>G
c.2700T>G (p.Asn900Lys)
c.1605T>G (p.Asn535Lys)
c.1194T>G (p.Asn398Lys)
n.2717T>G
5g.13886115A>GCA443273746DNAH5c.2592T>C (p.Asn864=)
c.2547T>C (p.Asn849=)
n.2799T>C
c.2700T>C (p.Asn900=)
c.1605T>C (p.Asn535=)
c.1194T>C (p.Asn398=)
n.2717T>C
5g.13886115A>TCA359196873DNAH5c.2592T>A (p.Asn864Lys)
c.2547T>A (p.Asn849Lys)
n.2799T>A
c.2700T>A (p.Asn900Lys)
c.1605T>A (p.Asn535Lys)
c.1194T>A (p.Asn398Lys)
n.2717T>A
 gnomAD v3 gnomAD v4
5g.13886116T>ACA359196879DNAH5c.2591A>T (p.Asn864Ile)
c.2546A>T (p.Asn849Ile)
n.2798A>T
c.2699A>T (p.Asn900Ile)
c.1604A>T (p.Asn535Ile)
c.1193A>T (p.Asn398Ile)
n.2716A>T
 COSMIC
5g.13886116T>CCA359196877DNAH5c.2591A>G (p.Asn864Ser)
c.2546A>G (p.Asn849Ser)
n.2798A>G
c.2699A>G (p.Asn900Ser)
c.1604A>G (p.Asn535Ser)
c.1193A>G (p.Asn398Ser)
n.2716A>G
5g.13886116T>GCA359196876DNAH5c.2591A>C (p.Asn864Thr)
c.2546A>C (p.Asn849Thr)
n.2798A>C
c.2699A>C (p.Asn900Thr)
c.1604A>C (p.Asn535Thr)
c.1193A>C (p.Asn398Thr)
n.2716A>C
5g.13886118delCA2578270980DNAH5c.2591del (p.Asn864MetfsTer12)
c.2546del (p.Asn849MetfsTer12)
n.2798del
c.2699del (p.Asn900MetfsTer12)
c.1604del (p.Asn535MetfsTer12)
c.1193del (p.Asn398MetfsTer12)
n.2716del
 gnomAD v4
5g.13886117T>ACA359196883DNAH5c.2590A>T (p.Asn864Tyr)
c.2545A>T (p.Asn849Tyr)
n.2797A>T
c.2698A>T (p.Asn900Tyr)
c.1603A>T (p.Asn535Tyr)
c.1192A>T (p.Asn398Tyr)
n.2715A>T
5g.13886117T>CCA359196887DNAH5c.2590A>G (p.Asn864Asp)
c.2545A>G (p.Asn849Asp)
n.2797A>G
c.2698A>G (p.Asn900Asp)
c.1603A>G (p.Asn535Asp)
c.1192A>G (p.Asn398Asp)
n.2715A>G
5g.13886117T>GCA359196889DNAH5c.2590A>C (p.Asn864His)
c.2545A>C (p.Asn849His)
n.2797A>C
c.2698A>C (p.Asn900His)
c.1603A>C (p.Asn535His)
c.1192A>C (p.Asn398His)
n.2715A>C
5g.13886118T>ACA443273747DNAH5c.2589A>T (p.Val863=)
c.2544A>T (p.Val848=)
n.2796A>T
c.2697A>T (p.Val899=)
c.1602A>T (p.Val534=)
c.1191A>T (p.Val397=)
n.2714A>T
 gnomAD v3 gnomAD v4
5g.13886118T>CCA443273748DNAH5c.2589A>G (p.Val863=)
c.2544A>G (p.Val848=)
n.2796A>G
c.2697A>G (p.Val899=)
c.1602A>G (p.Val534=)
c.1191A>G (p.Val397=)
n.2714A>G
5g.13886118T>GCA443273749DNAH5c.2589A>C (p.Val863=)
c.2544A>C (p.Val848=)
n.2796A>C
c.2697A>C (p.Val899=)
c.1602A>C (p.Val534=)
c.1191A>C (p.Val397=)
n.2714A>C
5g.13886119A>CCA359196892DNAH5c.2588T>G (p.Val863Gly)
c.2543T>G (p.Val848Gly)
n.2795T>G
c.2696T>G (p.Val899Gly)
c.1601T>G (p.Val534Gly)
c.1190T>G (p.Val397Gly)
n.2713T>G
 gnomAD v3 gnomAD v4
5g.13886119A>GCA359196893DNAH5c.2588T>C (p.Val863Ala)
c.2543T>C (p.Val848Ala)
n.2795T>C
c.2696T>C (p.Val899Ala)
c.1601T>C (p.Val534Ala)
c.1190T>C (p.Val397Ala)
n.2713T>C
 gnomAD v4 COSMIC
5g.13886119A>TCA359196895DNAH5c.2588T>A (p.Val863Glu)
c.2543T>A (p.Val848Glu)
n.2795T>A
c.2696T>A (p.Val899Glu)
c.1601T>A (p.Val534Glu)
c.1190T>A (p.Val397Glu)
n.2713T>A
5g.13886119_13886120insAAAAAAACA2673277317DNAH5c.2588_2589insTTTTTTT (p.Asn864PhefsTer11)
c.2543_2544insTTTTTTT (p.Asn849PhefsTer11)
n.2795_2796insTTTTTTT
c.2696_2697insTTTTTTT (p.Asn900PhefsTer11)
c.1601_1602insTTTTTTT (p.Asn535PhefsTer11)
c.1190_1191insTTTTTTT (p.Asn398PhefsTer11)
n.2713_2714insTTTTTTT
 gnomAD v4
5g.13886120C>ACA359196896DNAH5c.2587G>T (p.Val863Leu)
c.2542G>T (p.Val848Leu)
n.2794G>T
c.2695G>T (p.Val899Leu)
c.1600G>T (p.Val534Leu)
c.1189G>T (p.Val397Leu)
n.2712G>T
 gnomAD v3 gnomAD v4
5g.13886120C=CA1528483843DNAH5c.2587G= (p.Val863=)
c.2542G= (p.Val848=)
n.2794G=
c.2695G= (p.Val899=)
c.1600G= (p.Val534=)
c.1189G= (p.Val397=)
n.2712G=
5g.13886120C>GCA359196897DNAH5c.2587G>C (p.Val863Leu)
c.2542G>C (p.Val848Leu)
n.2794G>C
c.2695G>C (p.Val899Leu)
c.1600G>C (p.Val534Leu)
c.1189G>C (p.Val397Leu)
n.2712G>C
5g.13886120C>TCA359196898DNAH5c.2587G>A (p.Val863Ile)
c.2542G>A (p.Val848Ile)
n.2794G>A
c.2695G>A (p.Val899Ile)
c.1600G>A (p.Val534Ile)
c.1189G>A (p.Val397Ile)
n.2712G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13886121A>CCA359196899DNAH5c.2586T>G (p.Cys862Trp)
c.2541T>G (p.Cys847Trp)
n.2793T>G
c.2694T>G (p.Cys898Trp)
c.1599T>G (p.Cys533Trp)
c.1188T>G (p.Cys396Trp)
n.2711T>G
5g.13886121A>GCA443273750DNAH5c.2586T>C (p.Cys862=)
c.2541T>C (p.Cys847=)
n.2793T>C
c.2694T>C (p.Cys898=)
c.1599T>C (p.Cys533=)
c.1188T>C (p.Cys396=)
n.2711T>C
5g.13886121A>TCA359196901DNAH5c.2586T>A (p.Cys862Ter)
c.2541T>A (p.Cys847Ter)
n.2793T>A
c.2694T>A (p.Cys898Ter)
c.1599T>A (p.Cys533Ter)
c.1188T>A (p.Cys396Ter)
n.2711T>A
5g.13886122delCA2765351033DNAH5c.2585del (p.Cys862LeufsTer2)
c.2540del (p.Cys847LeufsTer2)
n.2792del
c.2693del (p.Cys898LeufsTer2)
c.1598del (p.Cys533LeufsTer2)
c.1187del (p.Cys396LeufsTer2)
n.2710del
5g.13886122C>ACA359196911DNAH5c.2585G>T (p.Cys862Phe)
c.2540G>T (p.Cys847Phe)
n.2792G>T
c.2693G>T (p.Cys898Phe)
c.1598G>T (p.Cys533Phe)
c.1187G>T (p.Cys396Phe)
n.2710G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13886122C=CA1528483844DNAH5c.2585G= (p.Cys862=)
c.2540G= (p.Cys847=)
n.2792G=
c.2693G= (p.Cys898=)
c.1598G= (p.Cys533=)
c.1187G= (p.Cys396=)
n.2710G=
5g.13886122C>GCA359196912DNAH5c.2585G>C (p.Cys862Ser)
c.2540G>C (p.Cys847Ser)
n.2792G>C
c.2693G>C (p.Cys898Ser)
c.1598G>C (p.Cys533Ser)
c.1187G>C (p.Cys396Ser)
n.2710G>C
5g.13886122C>TCA359196915DNAH5c.2585G>A (p.Cys862Tyr)
c.2540G>A (p.Cys847Tyr)
n.2792G>A
c.2693G>A (p.Cys898Tyr)
c.1598G>A (p.Cys533Tyr)
c.1187G>A (p.Cys396Tyr)
n.2710G>A
 gnomAD v4
5g.13886123A>CCA359196921DNAH5c.2584T>G (p.Cys862Gly)
c.2539T>G (p.Cys847Gly)
n.2791T>G
c.2692T>G (p.Cys898Gly)
c.1597T>G (p.Cys533Gly)
c.1186T>G (p.Cys396Gly)
n.2709T>G
5g.13886123A>GCA359196925DNAH5c.2584T>C (p.Cys862Arg)
c.2539T>C (p.Cys847Arg)
n.2791T>C
c.2692T>C (p.Cys898Arg)
c.1597T>C (p.Cys533Arg)
c.1186T>C (p.Cys396Arg)
n.2709T>C
5g.13886123A>TCA359196919DNAH5c.2584T>A (p.Cys862Ser)
c.2539T>A (p.Cys847Ser)
n.2791T>A
c.2692T>A (p.Cys898Ser)
c.1597T>A (p.Cys533Ser)
c.1186T>A (p.Cys396Ser)
n.2709T>A
5g.13886124A>CCA443273751DNAH5c.2583T>G (p.Leu861=)
c.2538T>G (p.Leu846=)
n.2790T>G
c.2691T>G (p.Leu897=)
c.1596T>G (p.Leu532=)
c.1185T>G (p.Leu395=)
n.2708T>G
5g.13886124A>GCA443273753DNAH5c.2583T>C (p.Leu861=)
c.2538T>C (p.Leu846=)
n.2790T>C
c.2691T>C (p.Leu897=)
c.1596T>C (p.Leu532=)
c.1185T>C (p.Leu395=)
n.2708T>C
5g.13886124A>TCA443273752DNAH5c.2583T>A (p.Leu861=)
c.2538T>A (p.Leu846=)
n.2790T>A
c.2691T>A (p.Leu897=)
c.1596T>A (p.Leu532=)
c.1185T>A (p.Leu395=)
n.2708T>A
5g.13886125A>CCA359196930DNAH5c.2582T>G (p.Leu861Arg)
c.2537T>G (p.Leu846Arg)
n.2789T>G
c.2690T>G (p.Leu897Arg)
c.1595T>G (p.Leu532Arg)
c.1184T>G (p.Leu395Arg)
n.2707T>G
5g.13886125A>GCA359196934DNAH5c.2582T>C (p.Leu861Pro)
c.2537T>C (p.Leu846Pro)
n.2789T>C
c.2690T>C (p.Leu897Pro)
c.1595T>C (p.Leu532Pro)
c.1184T>C (p.Leu395Pro)
n.2707T>C
5g.13886125A>TCA359196936DNAH5c.2582T>A (p.Leu861His)
c.2537T>A (p.Leu846His)
n.2789T>A
c.2690T>A (p.Leu897His)
c.1595T>A (p.Leu532His)
c.1184T>A (p.Leu395His)
n.2707T>A
5g.13886126delCA2765351034DNAH5c.2581del (p.Leu861PhefsTer3)
c.2536del (p.Leu846PhefsTer3)
n.2788del
c.2689del (p.Leu897PhefsTer3)
c.1594del (p.Leu532PhefsTer3)
c.1183del (p.Leu395PhefsTer3)
n.2706del
5g.13886126G>ACA3204530DNAH5c.2581C>T (p.Leu861Phe)
c.2536C>T (p.Leu846Phe)
n.2788C>T
c.2689C>T (p.Leu897Phe)
c.1594C>T (p.Leu532Phe)
c.1183C>T (p.Leu395Phe)
n.2706C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13886126G>CCA359196937DNAH5c.2581C>G (p.Leu861Val)
c.2536C>G (p.Leu846Val)
n.2788C>G
c.2689C>G (p.Leu897Val)
c.1594C>G (p.Leu532Val)
c.1183C>G (p.Leu395Val)
n.2706C>G
 ClinVar dbSNP gnomAD v4
5g.13886126G=CA1528483845DNAH5c.2581C= (p.Leu861=)
c.2536C= (p.Leu846=)
n.2788C=
c.2689C= (p.Leu897=)
c.1594C= (p.Leu532=)
c.1183C= (p.Leu395=)
n.2706C=
5g.13886126G>TCA113933835DNAH5c.2581C>A (p.Leu861Ile)
c.2536C>A (p.Leu846Ile)
n.2788C>A
c.2689C>A (p.Leu897Ile)
c.1594C>A (p.Leu532Ile)
c.1183C>A (p.Leu395Ile)
n.2706C>A
 dbSNP gnomAD v3 gnomAD v4
5g.13886126_13886131delCA2673277318DNAH5c.2578-2_2581del
c.2533-2_2536del
n.2785-2_2788del
c.2686-2_2689del
c.1591-2_1594del
c.1180-2_1183del
n.2703-2_2706del
 gnomAD v4
5g.13886127A>CCA359196941DNAH5c.2580T>G (p.Asp860Glu)
c.2535T>G (p.Asp845Glu)
n.2787T>G
c.2688T>G (p.Asp896Glu)
c.1593T>G (p.Asp531Glu)
c.1182T>G (p.Asp394Glu)
n.2705T>G
5g.13886127A>GCA443273754DNAH5c.2580T>C (p.Asp860=)
c.2535T>C (p.Asp845=)
n.2787T>C
c.2688T>C (p.Asp896=)
c.1593T>C (p.Asp531=)
c.1182T>C (p.Asp394=)
n.2705T>C
5g.13886127A>TCA359196939DNAH5c.2580T>A (p.Asp860Glu)
c.2535T>A (p.Asp845Glu)
n.2787T>A
c.2688T>A (p.Asp896Glu)
c.1593T>A (p.Asp531Glu)
c.1182T>A (p.Asp394Glu)
n.2705T>A
 gnomAD v4
5g.13886128T>ACA359196944DNAH5c.2579A>T (p.Asp860Val)
c.2534A>T (p.Asp845Val)
n.2786A>T
c.2687A>T (p.Asp896Val)
c.1592A>T (p.Asp531Val)
c.1181A>T (p.Asp394Val)
n.2704A>T
 dbSNP gnomAD v4 COSMIC
5g.13886128T>CCA359196945DNAH5c.2579A>G (p.Asp860Gly)
c.2534A>G (p.Asp845Gly)
n.2786A>G
c.2687A>G (p.Asp896Gly)
c.1592A>G (p.Asp531Gly)
c.1181A>G (p.Asp394Gly)
n.2704A>G
 gnomAD v3 gnomAD v4
5g.13886128T>GCA359196947DNAH5c.2579A>C (p.Asp860Ala)
c.2534A>C (p.Asp845Ala)
n.2786A>C
c.2687A>C (p.Asp896Ala)
c.1592A>C (p.Asp531Ala)
c.1181A>C (p.Asp394Ala)
n.2704A>C
5g.13886128_13886131delCA1073400353DNAH5c.2578-2_2579del
c.2533-2_2534del
n.2785-2_2786del
c.2686-2_2687del
c.1591-2_1592del
c.1180-2_1181del
n.2703-2_2704del
 gnomAD v3 gnomAD v4
5g.13886129_13886131delCA1073400351DNAH5c.2578-1_2579del
c.2533-1_2534del
n.2785-1_2786del
c.2686-1_2687del
c.1591-1_1592del
c.1180-1_1181del
n.2703-1_2704del
 gnomAD v4
5g.13886129C>ACA359196949DNAH5c.2578G>T (p.Asp860Tyr)
c.2533G>T (p.Asp845Tyr)
n.2785G>T
c.2686G>T (p.Asp896Tyr)
c.1591G>T (p.Asp531Tyr)
c.1180G>T (p.Asp394Tyr)
n.2703G>T
 dbSNP gnomAD v4
5g.13886129C=CA1528483846DNAH5c.2578G= (p.Asp860=)
c.2533G= (p.Asp845=)
n.2785G=
c.2686G= (p.Asp896=)
c.1591G= (p.Asp531=)
c.1180G= (p.Asp394=)
n.2703G=
5g.13886129C>GCA359196951DNAH5c.2578G>C (p.Asp860His)
c.2533G>C (p.Asp845His)
n.2785G>C
c.2686G>C (p.Asp896His)
c.1591G>C (p.Asp531His)
c.1180G>C (p.Asp394His)
n.2703G>C
 gnomAD v4
5g.13886129C>TCA359196955DNAH5c.2578G>A (p.Asp860Asn)
c.2533G>A (p.Asp845Asn)
n.2785G>A
c.2686G>A (p.Asp896Asn)
c.1591G>A (p.Asp531Asn)
c.1180G>A (p.Asp394Asn)
n.2703G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13886129_13886130delCA2765351035DNAH5c.2578-1_2578del
c.2533-1_2533del
n.2785-1_2785del
c.2686-1_2686del
c.1591-1_1591del
c.1180-1_1180del
n.2703-1_2703del
5g.13886130delCA2673277319DNAH5c.2578del
c.2533del
n.2785del
c.2686del
c.1591del
c.1180del
n.2703del
 ClinVar gnomAD v4
5g.13886130C>ACA359196958DNAH5c.2578-1G>T (n.2578-1G>T)
c.2533-1G>T (n.2533-1G>T)
n.2785-1G>T
c.2686-1G>T (n.2686-1G>T)
c.1591-1G>T (n.1591-1G>T)
c.1180-1G>T (n.1180-1G>T)
n.2703-1G>T
 dbSNP gnomAD v3 gnomAD v4
5g.13886130C=CA1528483847DNAH5c.2578-1G= (n.2578-1G=)
c.2533-1G= (n.2533-1G=)
n.2785-1G=
c.2686-1G= (n.2686-1G=)
c.1591-1G= (n.1591-1G=)
c.1180-1G= (n.1180-1G=)
n.2703-1G=
5g.13886130C>GCA359196966DNAH5c.2578-1G>C (n.2578-1G>C)
c.2533-1G>C (n.2533-1G>C)
n.2785-1G>C
c.2686-1G>C (n.2686-1G>C)
c.1591-1G>C (n.1591-1G>C)
c.1180-1G>C (n.1180-1G>C)
n.2703-1G>C
 dbSNP gnomAD v2 gnomAD v4
5g.13886130C>TCA359196963DNAH5c.2578-1G>A (n.2578-1G>A)
c.2533-1G>A (n.2533-1G>A)
n.2785-1G>A
c.2686-1G>A (n.2686-1G>A)
c.1591-1G>A (n.1591-1G>A)
c.1180-1G>A (n.1180-1G>A)
n.2703-1G>A
 ClinVar dbSNP gnomAD v4
5g.13886130_13886131delCA2673277320DNAH5c.2578-2_2578-1del (n.2578-2_2578-1del)
c.2533-2_2533-1del (n.2533-2_2533-1del)
n.2785-2_2785-1del
c.2686-2_2686-1del (n.2686-2_2686-1del)
c.1591-2_1591-1del (n.1591-2_1591-1del)
c.1180-2_1180-1del (n.1180-2_1180-1del)
n.2703-2_2703-1del
 gnomAD v4
5g.13886131delCA1073400364DNAH5c.2578-2del (n.2578-2del)
c.2533-2del (n.2533-2del)
n.2785-2del
c.2686-2del (n.2686-2del)
c.1591-2del (n.1591-2del)
c.1180-2del (n.1180-2del)
n.2703-2del
 gnomAD v3 gnomAD v4
5g.13886131T>ACA359196968DNAH5c.2578-2A>T (n.2578-2A>T)
c.2533-2A>T (n.2533-2A>T)
n.2785-2A>T
c.2686-2A>T (n.2686-2A>T)
c.1591-2A>T (n.1591-2A>T)
c.1180-2A>T (n.1180-2A>T)
n.2703-2A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13886131T>CCA359196970DNAH5c.2578-2A>G (n.2578-2A>G)
c.2533-2A>G (n.2533-2A>G)
n.2785-2A>G
c.2686-2A>G (n.2686-2A>G)
c.1591-2A>G (n.1591-2A>G)
c.1180-2A>G (n.1180-2A>G)
n.2703-2A>G
 dbSNP gnomAD v2 gnomAD v4
5g.13886131T>GCA359196971DNAH5c.2578-2A>C (n.2578-2A>C)
c.2533-2A>C (n.2533-2A>C)
n.2785-2A>C
c.2686-2A>C (n.2686-2A>C)
c.1591-2A>C (n.1591-2A>C)
c.1180-2A>C (n.1180-2A>C)
n.2703-2A>C
 gnomAD v4
5g.13886131T=CA1528483848DNAH5c.2578-2A= (n.2578-2A=)
c.2533-2A= (n.2533-2A=)
n.2785-2A=
c.2686-2A= (n.2686-2A=)
c.1591-2A= (n.1591-2A=)
c.1180-2A= (n.1180-2A=)
n.2703-2A=
5g.13886132A>GCA2673277322DNAH5c.2578-3T>C (n.2578-3T>C)
c.2533-3T>C (n.2533-3T>C)
n.2785-3T>C
c.2686-3T>C (n.2686-3T>C)
c.1591-3T>C (n.1591-3T>C)
c.1180-3T>C (n.1180-3T>C)
n.2703-3T>C
 gnomAD v4
5g.13886133delCA2673277323DNAH5c.2578-3del (n.2578-3del)
c.2533-3del (n.2533-3del)
n.2785-3del
c.2686-3del (n.2686-3del)
c.1591-3del (n.1591-3del)
c.1180-3del (n.1180-3del)
n.2703-3del
 gnomAD v4
5g.13886132_13886135delinsAACCCA1528483849DNAH5c.2578-6_2578-3delinsGGTT (n.2578-6_2578-3delinsGGTT)
c.2533-6_2533-3delinsGGTT (n.2533-6_2533-3delinsGGTT)
n.2785-6_2785-3delinsGGTT
c.2686-6_2686-3delinsGGTT (n.2686-6_2686-3delinsGGTT)
c.1591-6_1591-3delinsGGTT (n.1591-6_1591-3delinsGGTT)
c.1180-6_1180-3delinsGGTT (n.1180-6_1180-3delinsGGTT)
n.2703-6_2703-3delinsGGTT
5g.13886134_13886137delCA2673277321DNAH5c.2578-6_2578-3del (n.2578-6_2578-3del)
c.2533-6_2533-3del (n.2533-6_2533-3del)
n.2785-6_2785-3del
c.2686-6_2686-3del (n.2686-6_2686-3del)
c.1591-6_1591-3del (n.1591-6_1591-3del)
c.1180-6_1180-3del (n.1180-6_1180-3del)
n.2703-6_2703-3del
 gnomAD v4
5g.13886133A=CA1528483851DNAH5c.2578-4T= (n.2578-4T=)
c.2533-4T= (n.2533-4T=)
n.2785-4T=
c.2686-4T= (n.2686-4T=)
c.1591-4T= (n.1591-4T=)
c.1180-4T= (n.1180-4T=)
n.2703-4T=
5g.13886133A>CCA1073400371DNAH5c.2578-4T>G (n.2578-4T>G)
c.2533-4T>G (n.2533-4T>G)
n.2785-4T>G
c.2686-4T>G (n.2686-4T>G)
c.1591-4T>G (n.1591-4T>G)
c.1180-4T>G (n.1180-4T>G)
n.2703-4T>G
 gnomAD v3 gnomAD v4
5g.13886133A>GCA557877048DNAH5c.2578-4T>C (n.2578-4T>C)
c.2533-4T>C (n.2533-4T>C)
n.2785-4T>C
c.2686-4T>C (n.2686-4T>C)
c.1591-4T>C (n.1591-4T>C)
c.1180-4T>C (n.1180-4T>C)
n.2703-4T>C
 dbSNP gnomAD v2 gnomAD v4
5g.13886133_13886134delinsACCA1528483852DNAH5c.2578-5_2578-4delinsGT (n.2578-5_2578-4delinsGT)
c.2533-5_2533-4delinsGT (n.2533-5_2533-4delinsGT)
n.2785-5_2785-4delinsGT
c.2686-5_2686-4delinsGT (n.2686-5_2686-4delinsGT)
c.1591-5_1591-4delinsGT (n.1591-5_1591-4delinsGT)
c.1180-5_1180-4delinsGT (n.1180-5_1180-4delinsGT)
n.2703-5_2703-4delinsGT
5g.13886133_13886135delinsACCCA1528483850DNAH5c.2578-6_2578-4delinsGGT (n.2578-6_2578-4delinsGGT)
c.2533-6_2533-4delinsGGT (n.2533-6_2533-4delinsGGT)
n.2785-6_2785-4delinsGGT
c.2686-6_2686-4delinsGGT (n.2686-6_2686-4delinsGGT)
c.1591-6_1591-4delinsGGT (n.1591-6_1591-4delinsGGT)
c.1180-6_1180-4delinsGGT (n.1180-6_1180-4delinsGGT)
n.2703-6_2703-4delinsGGT
5g.13886134_13886136delCA557877047DNAH5c.2578-6_2578-4del (n.2578-6_2578-4del)
c.2533-6_2533-4del (n.2533-6_2533-4del)
n.2785-6_2785-4del
c.2686-6_2686-4del (n.2686-6_2686-4del)
c.1591-6_1591-4del (n.1591-6_1591-4del)
c.1180-6_1180-4del (n.1180-6_1180-4del)
n.2703-6_2703-4del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13886134C>ACA113933851DNAH5c.2578-5G>T (n.2578-5G>T)
c.2533-5G>T (n.2533-5G>T)
n.2785-5G>T
c.2686-5G>T (n.2686-5G>T)
c.1591-5G>T (n.1591-5G>T)
c.1180-5G>T (n.1180-5G>T)
n.2703-5G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13886134C=CA1528483853DNAH5c.2578-5G= (n.2578-5G=)
c.2533-5G= (n.2533-5G=)
n.2785-5G=
c.2686-5G= (n.2686-5G=)
c.1591-5G= (n.1591-5G=)
c.1180-5G= (n.1180-5G=)
n.2703-5G=
5g.13886134C>GCA1528483858DNAH5c.2578-5G>C (n.2578-5G>C)
c.2533-5G>C (n.2533-5G>C)
n.2785-5G>C
c.2686-5G>C (n.2686-5G>C)
c.1591-5G>C (n.1591-5G>C)
c.1180-5G>C (n.1180-5G>C)
n.2703-5G>C
 ClinVar dbSNP
5g.13886134_13886135delCA557877049DNAH5c.2578-6_2578-5del (n.2578-6_2578-5del)
c.2533-6_2533-5del (n.2533-6_2533-5del)
n.2785-6_2785-5del
c.2686-6_2686-5del (n.2686-6_2686-5del)
c.1591-6_1591-5del (n.1591-6_1591-5del)
c.1180-6_1180-5del (n.1180-6_1180-5del)
n.2703-6_2703-5del
 dbSNP gnomAD v2 gnomAD v4
5g.13886135dupCA3204531DNAH5c.2578-5dup (n.2578-5dup)
c.2533-5dup (n.2533-5dup)
n.2785-5dup
c.2686-5dup (n.2686-5dup)
c.1591-5dup (n.1591-5dup)
c.1180-5dup (n.1180-5dup)
n.2703-5dup
 dbSNP ExAC
5g.13886135delCA10622767DNAH5c.2578-5del (n.2578-5del)
c.2533-5del (n.2533-5del)
n.2785-5del
c.2686-5del (n.2686-5del)
c.1591-5del (n.1591-5del)
c.1180-5del (n.1180-5del)
n.2703-5del
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.13886134_13886136delinsCCACA1528483856DNAH5c.2578-7_2578-5delinsTGG (n.2578-7_2578-5delinsTGG)
c.2533-7_2533-5delinsTGG (n.2533-7_2533-5delinsTGG)
n.2785-7_2785-5delinsTGG
c.2686-7_2686-5delinsTGG (n.2686-7_2686-5delinsTGG)
c.1591-7_1591-5delinsTGG (n.1591-7_1591-5delinsTGG)
c.1180-7_1180-5delinsTGG (n.1180-7_1180-5delinsTGG)
n.2703-7_2703-5delinsTGG
5g.13886134_13886137delinsCCAACA1528483857DNAH5c.2578-8_2578-5delinsTTGG (n.2578-8_2578-5delinsTTGG)
c.2533-8_2533-5delinsTTGG (n.2533-8_2533-5delinsTTGG)
n.2785-8_2785-5delinsTTGG
c.2686-8_2686-5delinsTTGG (n.2686-8_2686-5delinsTTGG)
c.1591-8_1591-5delinsTTGG (n.1591-8_1591-5delinsTTGG)
c.1180-8_1180-5delinsTTGG (n.1180-8_1180-5delinsTTGG)
n.2703-8_2703-5delinsTTGG
5g.13886134_13886138delinsCCAAACA1528483855DNAH5c.2578-9_2578-5delinsTTTGG (n.2578-9_2578-5delinsTTTGG)
c.2533-9_2533-5delinsTTTGG (n.2533-9_2533-5delinsTTTGG)
n.2785-9_2785-5delinsTTTGG
c.2686-9_2686-5delinsTTTGG (n.2686-9_2686-5delinsTTTGG)
c.1591-9_1591-5delinsTTTGG (n.1591-9_1591-5delinsTTTGG)
c.1180-9_1180-5delinsTTTGG (n.1180-9_1180-5delinsTTTGG)
n.2703-9_2703-5delinsTTTGG
5g.13886134_13886139delinsCCAAAACA1528483854DNAH5c.2578-10_2578-5delinsTTTTGG (n.2578-10_2578-5delinsTTTTGG)
c.2533-10_2533-5delinsTTTTGG (n.2533-10_2533-5delinsTTTTGG)
n.2785-10_2785-5delinsTTTTGG
c.2686-10_2686-5delinsTTTTGG (n.2686-10_2686-5delinsTTTTGG)
c.1591-10_1591-5delinsTTTTGG (n.1591-10_1591-5delinsTTTTGG)
c.1180-10_1180-5delinsTTTTGG (n.1180-10_1180-5delinsTTTTGG)
n.2703-10_2703-5delinsTTTTGG
5g.13886134_13886135insACA1073400397DNAH5c.2578-6_2578-5insT (n.2578-6_2578-5insT)
c.2533-6_2533-5insT (n.2533-6_2533-5insT)
n.2785-6_2785-5insT
c.2686-6_2686-5insT (n.2686-6_2686-5insT)
c.1591-6_1591-5insT (n.1591-6_1591-5insT)
c.1180-6_1180-5insT (n.1180-6_1180-5insT)
n.2703-6_2703-5insT
 dbSNP gnomAD v3 gnomAD v4
5g.13886134_13886135insAACA2673277328DNAH5c.2578-6_2578-5insTT (n.2578-6_2578-5insTT)
c.2533-6_2533-5insTT (n.2533-6_2533-5insTT)
n.2785-6_2785-5insTT
c.2686-6_2686-5insTT (n.2686-6_2686-5insTT)
c.1591-6_1591-5insTT (n.1591-6_1591-5insTT)
c.1180-6_1180-5insTT (n.1180-6_1180-5insTT)
n.2703-6_2703-5insTT
 gnomAD v4
5g.13886134_13886135insAAACA2673277324DNAH5c.2578-6_2578-5insTTT (n.2578-6_2578-5insTTT)
c.2533-6_2533-5insTTT (n.2533-6_2533-5insTTT)
n.2785-6_2785-5insTTT
c.2686-6_2686-5insTTT (n.2686-6_2686-5insTTT)
c.1591-6_1591-5insTTT (n.1591-6_1591-5insTTT)
c.1180-6_1180-5insTTT (n.1180-6_1180-5insTTT)
n.2703-6_2703-5insTTT
 gnomAD v4
5g.13886134_13886135insAAAACA2673277327DNAH5c.2578-6_2578-5insTTTT (n.2578-6_2578-5insTTTT)
c.2533-6_2533-5insTTTT (n.2533-6_2533-5insTTTT)
n.2785-6_2785-5insTTTT
c.2686-6_2686-5insTTTT (n.2686-6_2686-5insTTTT)
c.1591-6_1591-5insTTTT (n.1591-6_1591-5insTTTT)
c.1180-6_1180-5insTTTT (n.1180-6_1180-5insTTTT)
n.2703-6_2703-5insTTTT
 gnomAD v4
5g.13886134_13886135insAAAAACA2765351036DNAH5c.2578-6_2578-5insTTTTT (n.2578-6_2578-5insTTTTT)
c.2533-6_2533-5insTTTTT (n.2533-6_2533-5insTTTTT)
n.2785-6_2785-5insTTTTT
c.2686-6_2686-5insTTTTT (n.2686-6_2686-5insTTTTT)
c.1591-6_1591-5insTTTTT (n.1591-6_1591-5insTTTTT)
c.1180-6_1180-5insTTTTT (n.1180-6_1180-5insTTTTT)
n.2703-6_2703-5insTTTTT
5g.13886134_13886135insAAAAAACA2765351037DNAH5c.2578-6_2578-5insTTTTTT (n.2578-6_2578-5insTTTTTT)
c.2533-6_2533-5insTTTTTT (n.2533-6_2533-5insTTTTTT)
n.2785-6_2785-5insTTTTTT
c.2686-6_2686-5insTTTTTT (n.2686-6_2686-5insTTTTTT)
c.1591-6_1591-5insTTTTTT (n.1591-6_1591-5insTTTTTT)
c.1180-6_1180-5insTTTTTT (n.1180-6_1180-5insTTTTTT)
n.2703-6_2703-5insTTTTTT
5g.13886134_13886135insAAAAAAAACA2673277326DNAH5c.2578-6_2578-5insTTTTTTTT (n.2578-6_2578-5insTTTTTTTT)
c.2533-6_2533-5insTTTTTTTT (n.2533-6_2533-5insTTTTTTTT)
n.2785-6_2785-5insTTTTTTTT
c.2686-6_2686-5insTTTTTTTT (n.2686-6_2686-5insTTTTTTTT)
c.1591-6_1591-5insTTTTTTTT (n.1591-6_1591-5insTTTTTTTT)
c.1180-6_1180-5insTTTTTTTT (n.1180-6_1180-5insTTTTTTTT)
n.2703-6_2703-5insTTTTTTTT
 gnomAD v4
5g.13886135C>ACA658657429DNAH5c.2578-6G>T (n.2578-6G>T)
c.2533-6G>T (n.2533-6G>T)
n.2785-6G>T
c.2686-6G>T (n.2686-6G>T)
c.1591-6G>T (n.1591-6G>T)
c.1180-6G>T (n.1180-6G>T)
n.2703-6G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.13886135C=CA1528483859DNAH5c.2578-6G= (n.2578-6G=)
c.2533-6G= (n.2533-6G=)
n.2785-6G=
c.2686-6G= (n.2686-6G=)
c.1591-6G= (n.1591-6G=)
c.1180-6G= (n.1180-6G=)
n.2703-6G=
5g.13886135_13886136delCA10620261DNAH5c.2578-7_2578-6del (n.2578-7_2578-6del)
c.2533-7_2533-6del (n.2533-7_2533-6del)
n.2785-7_2785-6del
c.2686-7_2686-6del (n.2686-7_2686-6del)
c.1591-7_1591-6del (n.1591-7_1591-6del)
c.1180-7_1180-6del (n.1180-7_1180-6del)
n.2703-7_2703-6del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13886135_13886136delinsCACA2497029630DNAH5c.2578-7_2578-6delinsTG (n.2578-7_2578-6delinsTG)
c.2533-7_2533-6delinsTG (n.2533-7_2533-6delinsTG)
n.2785-7_2785-6delinsTG
c.2686-7_2686-6delinsTG (n.2686-7_2686-6delinsTG)
c.1591-7_1591-6delinsTG (n.1591-7_1591-6delinsTG)
c.1180-7_1180-6delinsTG (n.1180-7_1180-6delinsTG)
n.2703-7_2703-6delinsTG
5g.13886135_13886137delCA10622768DNAH5c.2578-8_2578-6del (n.2578-8_2578-6del)
c.2533-8_2533-6del (n.2533-8_2533-6del)
n.2785-8_2785-6del
c.2686-8_2686-6del (n.2686-8_2686-6del)
c.1591-8_1591-6del (n.1591-8_1591-6del)
c.1180-8_1180-6del (n.1180-8_1180-6del)
n.2703-8_2703-6del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13886135_13886137delinsCAACA2497029631DNAH5c.2578-8_2578-6delinsTTG (n.2578-8_2578-6delinsTTG)
c.2533-8_2533-6delinsTTG (n.2533-8_2533-6delinsTTG)
n.2785-8_2785-6delinsTTG
c.2686-8_2686-6delinsTTG (n.2686-8_2686-6delinsTTG)
c.1591-8_1591-6delinsTTG (n.1591-8_1591-6delinsTTG)
c.1180-8_1180-6delinsTTG (n.1180-8_1180-6delinsTTG)
n.2703-8_2703-6delinsTTG
5g.13886135_13886138delCA917418475DNAH5c.2578-9_2578-6del (n.2578-9_2578-6del)
c.2533-9_2533-6del (n.2533-9_2533-6del)
n.2785-9_2785-6del
c.2686-9_2686-6del (n.2686-9_2686-6del)
c.1591-9_1591-6del (n.1591-9_1591-6del)
c.1180-9_1180-6del (n.1180-9_1180-6del)
n.2703-9_2703-6del
 dbSNP gnomAD v4
5g.13886135_13886138delinsCAAACA2497029125DNAH5c.2578-9_2578-6delinsTTTG (n.2578-9_2578-6delinsTTTG)
c.2533-9_2533-6delinsTTTG (n.2533-9_2533-6delinsTTTG)
n.2785-9_2785-6delinsTTTG
c.2686-9_2686-6delinsTTTG (n.2686-9_2686-6delinsTTTG)
c.1591-9_1591-6delinsTTTG (n.1591-9_1591-6delinsTTTG)
c.1180-9_1180-6delinsTTTG (n.1180-9_1180-6delinsTTTG)
n.2703-9_2703-6delinsTTTG
5g.13886135_13886139delCA917418474DNAH5c.2578-10_2578-6del (n.2578-10_2578-6del)
c.2533-10_2533-6del (n.2533-10_2533-6del)
n.2785-10_2785-6del
c.2686-10_2686-6del (n.2686-10_2686-6del)
c.1591-10_1591-6del (n.1591-10_1591-6del)
c.1180-10_1180-6del (n.1180-10_1180-6del)
n.2703-10_2703-6del
 dbSNP gnomAD v3 gnomAD v4
5g.13886135_13886140delCA2673277325DNAH5c.2578-11_2578-6del (n.2578-11_2578-6del)
c.2533-11_2533-6del (n.2533-11_2533-6del)
n.2785-11_2785-6del
c.2686-11_2686-6del (n.2686-11_2686-6del)
c.1591-11_1591-6del (n.1591-11_1591-6del)
c.1180-11_1180-6del (n.1180-11_1180-6del)
n.2703-11_2703-6del
 gnomAD v4
5g.13886135_13886145delinsCAAAAAAAAAACA1528483860DNAH5c.2578-16_2578-6delinsTTTTTTTTTTG (n.2578-16_2578-6delinsTTTTTTTTTTG)
c.2533-16_2533-6delinsTTTTTTTTTTG (n.2533-16_2533-6delinsTTTTTTTTTTG)
n.2785-16_2785-6delinsTTTTTTTTTTG
c.2686-16_2686-6delinsTTTTTTTTTTG (n.2686-16_2686-6delinsTTTTTTTTTTG)
c.1591-16_1591-6delinsTTTTTTTTTTG (n.1591-16_1591-6delinsTTTTTTTTTTG)
c.1180-16_1180-6delinsTTTTTTTTTTG (n.1180-16_1180-6delinsTTTTTTTTTTG)
n.2703-16_2703-6delinsTTTTTTTTTTG
5g.13886135_13886136insCACA917418480DNAH5c.2578-7_2578-6insTG (n.2578-7_2578-6insTG)
c.2533-7_2533-6insTG (n.2533-7_2533-6insTG)
n.2785-7_2785-6insTG
c.2686-7_2686-6insTG (n.2686-7_2686-6insTG)
c.1591-7_1591-6insTG (n.1591-7_1591-6insTG)
c.1180-7_1180-6insTG (n.1180-7_1180-6insTG)
n.2703-7_2703-6insTG
 dbSNP
5g.13886136A=CA1528483861DNAH5c.2578-7T= (n.2578-7T=)
c.2533-7T= (n.2533-7T=)
n.2785-7T=
c.2686-7T= (n.2686-7T=)
c.1591-7T= (n.1591-7T=)
c.1180-7T= (n.1180-7T=)
n.2703-7T=
5g.13886136A>CCA113933880DNAH5c.2578-7T>G (n.2578-7T>G)
c.2533-7T>G (n.2533-7T>G)
n.2785-7T>G
c.2686-7T>G (n.2686-7T>G)
c.1591-7T>G (n.1591-7T>G)
c.1180-7T>G (n.1180-7T>G)
n.2703-7T>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13886143_13886144insCAAAAAAAAAAACA2673277331DNAH5c.2578-7_2578-6insTTTGTTTTTTTT (n.2578-7_2578-6insTTTGTTTTTTTT)
c.2533-7_2533-6insTTTGTTTTTTTT (n.2533-7_2533-6insTTTGTTTTTTTT)
n.2785-7_2785-6insTTTGTTTTTTTT
c.2686-7_2686-6insTTTGTTTTTTTT (n.2686-7_2686-6insTTTGTTTTTTTT)
c.1591-7_1591-6insTTTGTTTTTTTT (n.1591-7_1591-6insTTTGTTTTTTTT)
c.1180-7_1180-6insTTTGTTTTTTTT (n.1180-7_1180-6insTTTGTTTTTTTT)
n.2703-7_2703-6insTTTGTTTTTTTT
 gnomAD v4
5g.13886154_13886155insAAAAAAAAAAAAAAAAAAAAACA2765351038DNAH5c.2578-7_2578-6insTTTTTTTTTTTTTTTTTTTTT (n.2578-7_2578-6insTTTTTTTTTTTTTTTTTTTTT)
c.2533-7_2533-6insTTTTTTTTTTTTTTTTTTTTT (n.2533-7_2533-6insTTTTTTTTTTTTTTTTTTTTT)
n.2785-7_2785-6insTTTTTTTTTTTTTTTTTTTTT
c.2686-7_2686-6insTTTTTTTTTTTTTTTTTTTTT (n.2686-7_2686-6insTTTTTTTTTTTTTTTTTTTTT)
c.1591-7_1591-6insTTTTTTTTTTTTTTTTTTTTT (n.1591-7_1591-6insTTTTTTTTTTTTTTTTTTTTT)
c.1180-7_1180-6insTTTTTTTTTTTTTTTTTTTTT (n.1180-7_1180-6insTTTTTTTTTTTTTTTTTTTTT)
n.2703-7_2703-6insTTTTTTTTTTTTTTTTTTTTT
5g.13886154_13886155insAAAAAAAAAAAAAAAAAAAAAACA2673277333DNAH5c.2578-7_2578-6insTTTTTTTTTTTTTTTTTTTTTT (n.2578-7_2578-6insTTTTTTTTTTTTTTTTTTTTTT)
c.2533-7_2533-6insTTTTTTTTTTTTTTTTTTTTTT (n.2533-7_2533-6insTTTTTTTTTTTTTTTTTTTTTT)
n.2785-7_2785-6insTTTTTTTTTTTTTTTTTTTTTT
c.2686-7_2686-6insTTTTTTTTTTTTTTTTTTTTTT (n.2686-7_2686-6insTTTTTTTTTTTTTTTTTTTTTT)
c.1591-7_1591-6insTTTTTTTTTTTTTTTTTTTTTT (n.1591-7_1591-6insTTTTTTTTTTTTTTTTTTTTTT)
c.1180-7_1180-6insTTTTTTTTTTTTTTTTTTTTTT (n.1180-7_1180-6insTTTTTTTTTTTTTTTTTTTTTT)
n.2703-7_2703-6insTTTTTTTTTTTTTTTTTTTTTT
 gnomAD v4
5g.13886154_13886155insAAAAAAAAAAAAAAAAAAAAAAACA2673277329DNAH5c.2578-7_2578-6insTTTTTTTTTTTTTTTTTTTTTTT (n.2578-7_2578-6insTTTTTTTTTTTTTTTTTTTTTTT)
c.2533-7_2533-6insTTTTTTTTTTTTTTTTTTTTTTT (n.2533-7_2533-6insTTTTTTTTTTTTTTTTTTTTTTT)
n.2785-7_2785-6insTTTTTTTTTTTTTTTTTTTTTTT
c.2686-7_2686-6insTTTTTTTTTTTTTTTTTTTTTTT (n.2686-7_2686-6insTTTTTTTTTTTTTTTTTTTTTTT)
c.1591-7_1591-6insTTTTTTTTTTTTTTTTTTTTTTT (n.1591-7_1591-6insTTTTTTTTTTTTTTTTTTTTTTT)
c.1180-7_1180-6insTTTTTTTTTTTTTTTTTTTTTTT (n.1180-7_1180-6insTTTTTTTTTTTTTTTTTTTTTTT)
n.2703-7_2703-6insTTTTTTTTTTTTTTTTTTTTTTT
 gnomAD v4
5g.13886154_13886155insAAAAAAAAAAAAAAAAAAAAAAAACA1073400468DNAH5c.2578-7_2578-6insTTTTTTTTTTTTTTTTTTTTTTTT (n.2578-7_2578-6insTTTTTTTTTTTTTTTTTTTTTTTT)
c.2533-7_2533-6insTTTTTTTTTTTTTTTTTTTTTTTT (n.2533-7_2533-6insTTTTTTTTTTTTTTTTTTTTTTTT)
n.2785-7_2785-6insTTTTTTTTTTTTTTTTTTTTTTTT
c.2686-7_2686-6insTTTTTTTTTTTTTTTTTTTTTTTT (n.2686-7_2686-6insTTTTTTTTTTTTTTTTTTTTTTTT)
c.1591-7_1591-6insTTTTTTTTTTTTTTTTTTTTTTTT (n.1591-7_1591-6insTTTTTTTTTTTTTTTTTTTTTTTT)
c.1180-7_1180-6insTTTTTTTTTTTTTTTTTTTTTTTT (n.1180-7_1180-6insTTTTTTTTTTTTTTTTTTTTTTTT)
n.2703-7_2703-6insTTTTTTTTTTTTTTTTTTTTTTTT
 gnomAD v3 gnomAD v4
5g.13886154_13886155insAAAAAAAAAAAAAAAAAAAAAAAAAAACA2673277330DNAH5c.2578-7_2578-6insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2578-7_2578-6insTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.2533-7_2533-6insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2533-7_2533-6insTTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.2785-7_2785-6insTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.2686-7_2686-6insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2686-7_2686-6insTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.1591-7_1591-6insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1591-7_1591-6insTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.1180-7_1180-6insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1180-7_1180-6insTTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.2703-7_2703-6insTTTTTTTTTTTTTTTTTTTTTTTTTTT
 gnomAD v4
5g.13886154_13886155insAAAAAAAAAAAAACAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA1073400452DNAH5c.2578-7_2578-6insTTTTTTTTTTTTTTTTTTATTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2578-7_2578-6insTTTTTTTTTTTTTTTTTTATTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.2533-7_2533-6insTTTTTTTTTTTTTTTTTTATTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2533-7_2533-6insTTTTTTTTTTTTTTTTTTATTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.2785-7_2785-6insTTTTTTTTTTTTTTTTTTATTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.2686-7_2686-6insTTTTTTTTTTTTTTTTTTATTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2686-7_2686-6insTTTTTTTTTTTTTTTTTTATTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.1591-7_1591-6insTTTTTTTTTTTTTTTTTTATTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1591-7_1591-6insTTTTTTTTTTTTTTTTTTATTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.1180-7_1180-6insTTTTTTTTTTTTTTTTTTATTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1180-7_1180-6insTTTTTTTTTTTTTTTTTTATTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.2703-7_2703-6insTTTTTTTTTTTTTTTTTTATTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
 gnomAD v3 gnomAD v4
5g.13886154dupCA3204537DNAH5c.2578-7dup (n.2578-7dup)
c.2533-7dup (n.2533-7dup)
n.2785-7dup
c.2686-7dup (n.2686-7dup)
c.1591-7dup (n.1591-7dup)
c.1180-7dup (n.1180-7dup)
n.2703-7dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13886153_13886154dupCA804560605DNAH5c.2578-8_2578-7dup (n.2578-8_2578-7dup)
c.2533-8_2533-7dup (n.2533-8_2533-7dup)
n.2785-8_2785-7dup
c.2686-8_2686-7dup (n.2686-8_2686-7dup)
c.1591-8_1591-7dup (n.1591-8_1591-7dup)
c.1180-8_1180-7dup (n.1180-8_1180-7dup)
n.2703-8_2703-7dup
 dbSNP gnomAD v3 gnomAD v4
5g.13886152_13886154dupCA1073400437DNAH5c.2578-9_2578-7dup (n.2578-9_2578-7dup)
c.2533-9_2533-7dup (n.2533-9_2533-7dup)
n.2785-9_2785-7dup
c.2686-9_2686-7dup (n.2686-9_2686-7dup)
c.1591-9_1591-7dup (n.1591-9_1591-7dup)
c.1180-9_1180-7dup (n.1180-9_1180-7dup)
n.2703-9_2703-7dup
 gnomAD v3 gnomAD v4
5g.13886151_13886154dupCA917418485DNAH5c.2578-10_2578-7dup (n.2578-10_2578-7dup)
c.2533-10_2533-7dup (n.2533-10_2533-7dup)
n.2785-10_2785-7dup
c.2686-10_2686-7dup (n.2686-10_2686-7dup)
c.1591-10_1591-7dup (n.1591-10_1591-7dup)
c.1180-10_1180-7dup (n.1180-10_1180-7dup)
n.2703-10_2703-7dup
 dbSNP gnomAD v3 gnomAD v4
5g.13886150_13886154dupCA1073400461DNAH5c.2578-11_2578-7dup (n.2578-11_2578-7dup)
c.2533-11_2533-7dup (n.2533-11_2533-7dup)
n.2785-11_2785-7dup
c.2686-11_2686-7dup (n.2686-11_2686-7dup)
c.1591-11_1591-7dup (n.1591-11_1591-7dup)
c.1180-11_1180-7dup (n.1180-11_1180-7dup)
n.2703-11_2703-7dup
 dbSNP gnomAD v3 gnomAD v4
5g.13886149_13886154dupCA1073400459DNAH5c.2578-12_2578-7dup (n.2578-12_2578-7dup)
c.2533-12_2533-7dup (n.2533-12_2533-7dup)
n.2785-12_2785-7dup
c.2686-12_2686-7dup (n.2686-12_2686-7dup)
c.1591-12_1591-7dup (n.1591-12_1591-7dup)
c.1180-12_1180-7dup (n.1180-12_1180-7dup)
n.2703-12_2703-7dup
 dbSNP gnomAD v3 gnomAD v4
5g.13886148_13886154dupCA915943315DNAH5c.2578-13_2578-7dup (n.2578-13_2578-7dup)
c.2533-13_2533-7dup (n.2533-13_2533-7dup)
n.2785-13_2785-7dup
c.2686-13_2686-7dup (n.2686-13_2686-7dup)
c.1591-13_1591-7dup (n.1591-13_1591-7dup)
c.1180-13_1180-7dup (n.1180-13_1180-7dup)
n.2703-13_2703-7dup
 ClinVar dbSNP gnomAD v4
5g.13886147_13886154dupCA2673277338DNAH5c.2578-14_2578-7dup (n.2578-14_2578-7dup)
c.2533-14_2533-7dup (n.2533-14_2533-7dup)
n.2785-14_2785-7dup
c.2686-14_2686-7dup (n.2686-14_2686-7dup)
c.1591-14_1591-7dup (n.1591-14_1591-7dup)
c.1180-14_1180-7dup (n.1180-14_1180-7dup)
n.2703-14_2703-7dup
 gnomAD v4
5g.13886146_13886154dupCA915943314DNAH5c.2578-15_2578-7dup (n.2578-15_2578-7dup)
c.2533-15_2533-7dup (n.2533-15_2533-7dup)
n.2785-15_2785-7dup
c.2686-15_2686-7dup (n.2686-15_2686-7dup)
c.1591-15_1591-7dup (n.1591-15_1591-7dup)
c.1180-15_1180-7dup (n.1180-15_1180-7dup)
n.2703-15_2703-7dup
 ClinVar dbSNP gnomAD v4
5g.13886145_13886154dupCA2673277334DNAH5c.2578-16_2578-7dup (n.2578-16_2578-7dup)
c.2533-16_2533-7dup (n.2533-16_2533-7dup)
n.2785-16_2785-7dup
c.2686-16_2686-7dup (n.2686-16_2686-7dup)
c.1591-16_1591-7dup (n.1591-16_1591-7dup)
c.1180-16_1180-7dup (n.1180-16_1180-7dup)
n.2703-16_2703-7dup
 gnomAD v4
5g.13886144_13886154dupCA2673277335DNAH5c.2578-17_2578-7dup (n.2578-17_2578-7dup)
c.2533-17_2533-7dup (n.2533-17_2533-7dup)
n.2785-17_2785-7dup
c.2686-17_2686-7dup (n.2686-17_2686-7dup)
c.1591-17_1591-7dup (n.1591-17_1591-7dup)
c.1180-17_1180-7dup (n.1180-17_1180-7dup)
n.2703-17_2703-7dup
 gnomAD v4
5g.13886143_13886154dupCA2673277336DNAH5c.2578-18_2578-7dup (n.2578-18_2578-7dup)
c.2533-18_2533-7dup (n.2533-18_2533-7dup)
n.2785-18_2785-7dup
c.2686-18_2686-7dup (n.2686-18_2686-7dup)
c.1591-18_1591-7dup (n.1591-18_1591-7dup)
c.1180-18_1180-7dup (n.1180-18_1180-7dup)
n.2703-18_2703-7dup
 gnomAD v4
5g.13886142_13886154dupCA915943313DNAH5c.2578-19_2578-7dup (n.2578-19_2578-7dup)
c.2533-19_2533-7dup (n.2533-19_2533-7dup)
n.2785-19_2785-7dup
c.2686-19_2686-7dup (n.2686-19_2686-7dup)
c.1591-19_1591-7dup (n.1591-19_1591-7dup)
c.1180-19_1180-7dup (n.1180-19_1180-7dup)
n.2703-19_2703-7dup
 ClinVar dbSNP gnomAD v4
5g.13886141_13886154dupCA2673277337DNAH5c.2578-20_2578-7dup (n.2578-20_2578-7dup)
c.2533-20_2533-7dup (n.2533-20_2533-7dup)
n.2785-20_2785-7dup
c.2686-20_2686-7dup (n.2686-20_2686-7dup)
c.1591-20_1591-7dup (n.1591-20_1591-7dup)
c.1180-20_1180-7dup (n.1180-20_1180-7dup)
n.2703-20_2703-7dup
 gnomAD v4
5g.13886138_13886154dupCA2673277332DNAH5c.2578-23_2578-7dup (n.2578-23_2578-7dup)
c.2533-23_2533-7dup (n.2533-23_2533-7dup)
n.2785-23_2785-7dup
c.2686-23_2686-7dup (n.2686-23_2686-7dup)
c.1591-23_1591-7dup (n.1591-23_1591-7dup)
c.1180-23_1180-7dup (n.1180-23_1180-7dup)
n.2703-23_2703-7dup
 gnomAD v4
5g.13886154delCA3204534DNAH5c.2578-7del (n.2578-7del)
c.2533-7del (n.2533-7del)
n.2785-7del
c.2686-7del (n.2686-7del)
c.1591-7del (n.1591-7del)
c.1180-7del (n.1180-7del)
n.2703-7del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13886153_13886154delCA3204533DNAH5c.2578-8_2578-7del (n.2578-8_2578-7del)
c.2533-8_2533-7del (n.2533-8_2533-7del)
n.2785-8_2785-7del
c.2686-8_2686-7del (n.2686-8_2686-7del)
c.1591-8_1591-7del (n.1591-8_1591-7del)
c.1180-8_1180-7del (n.1180-8_1180-7del)
n.2703-8_2703-7del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13886152_13886154delCA3204532DNAH5c.2578-9_2578-7del (n.2578-9_2578-7del)
c.2533-9_2533-7del (n.2533-9_2533-7del)
n.2785-9_2785-7del
c.2686-9_2686-7del (n.2686-9_2686-7del)
c.1591-9_1591-7del (n.1591-9_1591-7del)
c.1180-9_1180-7del (n.1180-9_1180-7del)
n.2703-9_2703-7del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13886151_13886154delCA3204536DNAH5c.2578-10_2578-7del (n.2578-10_2578-7del)
c.2533-10_2533-7del (n.2533-10_2533-7del)
n.2785-10_2785-7del
c.2686-10_2686-7del (n.2686-10_2686-7del)
c.1591-10_1591-7del (n.1591-10_1591-7del)
c.1180-10_1180-7del (n.1180-10_1180-7del)
n.2703-10_2703-7del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13886150_13886154delCA3204535DNAH5c.2578-11_2578-7del (n.2578-11_2578-7del)
c.2533-11_2533-7del (n.2533-11_2533-7del)
n.2785-11_2785-7del
c.2686-11_2686-7del (n.2686-11_2686-7del)
c.1591-11_1591-7del (n.1591-11_1591-7del)
c.1180-11_1180-7del (n.1180-11_1180-7del)
n.2703-11_2703-7del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13886149_13886154delCA443273755DNAH5c.2578-12_2578-7del (n.2578-12_2578-7del)
c.2533-12_2533-7del (n.2533-12_2533-7del)
n.2785-12_2785-7del
c.2686-12_2686-7del (n.2686-12_2686-7del)
c.1591-12_1591-7del (n.1591-12_1591-7del)
c.1180-12_1180-7del (n.1180-12_1180-7del)
n.2703-12_2703-7del
 dbSNP gnomAD v3 gnomAD v4
5g.13886148_13886154delCA1073400439DNAH5c.2578-13_2578-7del (n.2578-13_2578-7del)
c.2533-13_2533-7del (n.2533-13_2533-7del)
n.2785-13_2785-7del
c.2686-13_2686-7del (n.2686-13_2686-7del)
c.1591-13_1591-7del (n.1591-13_1591-7del)
c.1180-13_1180-7del (n.1180-13_1180-7del)
n.2703-13_2703-7del
 dbSNP gnomAD v3 gnomAD v4
5g.13886147_13886154delCA804560599DNAH5c.2578-14_2578-7del (n.2578-14_2578-7del)
c.2533-14_2533-7del (n.2533-14_2533-7del)
n.2785-14_2785-7del
c.2686-14_2686-7del (n.2686-14_2686-7del)
c.1591-14_1591-7del (n.1591-14_1591-7del)
c.1180-14_1180-7del (n.1180-14_1180-7del)
n.2703-14_2703-7del
 dbSNP gnomAD v3 gnomAD v4
5g.13886146_13886154delCA1528483863DNAH5c.2578-15_2578-7del (n.2578-15_2578-7del)
c.2533-15_2533-7del (n.2533-15_2533-7del)
n.2785-15_2785-7del
c.2686-15_2686-7del (n.2686-15_2686-7del)
c.1591-15_1591-7del (n.1591-15_1591-7del)
c.1180-15_1180-7del (n.1180-15_1180-7del)
n.2703-15_2703-7del
 dbSNP gnomAD v4
5g.13886145_13886154delCA1528483862DNAH5c.2578-16_2578-7del (n.2578-16_2578-7del)
c.2533-16_2533-7del (n.2533-16_2533-7del)
n.2785-16_2785-7del
c.2686-16_2686-7del (n.2686-16_2686-7del)
c.1591-16_1591-7del (n.1591-16_1591-7del)
c.1180-16_1180-7del (n.1180-16_1180-7del)
n.2703-16_2703-7del
 dbSNP gnomAD v4
5g.13886137A=CA1528483864DNAH5c.2578-8T= (n.2578-8T=)
c.2533-8T= (n.2533-8T=)
n.2785-8T=
c.2686-8T= (n.2686-8T=)
c.1591-8T= (n.1591-8T=)
c.1180-8T= (n.1180-8T=)
n.2703-8T=
5g.13886137A>CCA557877050DNAH5c.2578-8T>G (n.2578-8T>G)
c.2533-8T>G (n.2533-8T>G)
n.2785-8T>G
c.2686-8T>G (n.2686-8T>G)
c.1591-8T>G (n.1591-8T>G)
c.1180-8T>G (n.1180-8T>G)
n.2703-8T>G
 dbSNP gnomAD v2 gnomAD v4
5g.13886138A=CA1528483865DNAH5c.2578-9T= (n.2578-9T=)
c.2533-9T= (n.2533-9T=)
n.2785-9T=
c.2686-9T= (n.2686-9T=)
c.1591-9T= (n.1591-9T=)
c.1180-9T= (n.1180-9T=)
n.2703-9T=
5g.13886138A>CCA557877051DNAH5c.2578-9T>G (n.2578-9T>G)
c.2533-9T>G (n.2533-9T>G)
n.2785-9T>G
c.2686-9T>G (n.2686-9T>G)
c.1591-9T>G (n.1591-9T>G)
c.1180-9T>G (n.1180-9T>G)
n.2703-9T>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13886139_13886140insCAACA2673277339DNAH5c.2578-9_2578-8insGTT (n.2578-9_2578-8insGTT)
c.2533-9_2533-8insGTT (n.2533-9_2533-8insGTT)
n.2785-9_2785-8insGTT
c.2686-9_2686-8insGTT (n.2686-9_2686-8insGTT)
c.1591-9_1591-8insGTT (n.1591-9_1591-8insGTT)
c.1180-9_1180-8insGTT (n.1180-9_1180-8insGTT)
n.2703-9_2703-8insGTT
 gnomAD v4
5g.13886138_13886139insCCCA1139768401DNAH5c.2578-10_2578-9insGG (n.2578-10_2578-9insGG)
c.2533-10_2533-9insGG (n.2533-10_2533-9insGG)
n.2785-10_2785-9insGG
c.2686-10_2686-9insGG (n.2686-10_2686-9insGG)
c.1591-10_1591-9insGG (n.1591-10_1591-9insGG)
c.1180-10_1180-9insGG (n.1180-10_1180-9insGG)
n.2703-10_2703-9insGG
5g.13886139A=CA1528483866DNAH5c.2578-10T= (n.2578-10T=)
c.2533-10T= (n.2533-10T=)
n.2785-10T=
c.2686-10T= (n.2686-10T=)
c.1591-10T= (n.1591-10T=)
c.1180-10T= (n.1180-10T=)
n.2703-10T=
5g.13886139A>CCA3204538DNAH5c.2578-10T>G (n.2578-10T>G)
c.2533-10T>G (n.2533-10T>G)
n.2785-10T>G
c.2686-10T>G (n.2686-10T>G)
c.1591-10T>G (n.1591-10T>G)
c.1180-10T>G (n.1180-10T>G)
n.2703-10T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13886139A>TCA2765351039DNAH5c.2578-10T>A (n.2578-10T>A)
c.2533-10T>A (n.2533-10T>A)
n.2785-10T>A
c.2686-10T>A (n.2686-10T>A)
c.1591-10T>A (n.1591-10T>A)
c.1180-10T>A (n.1180-10T>A)
n.2703-10T>A
5g.13886140A=CA1528483867DNAH5c.2578-11T= (n.2578-11T=)
c.2533-11T= (n.2533-11T=)
n.2785-11T=
c.2686-11T= (n.2686-11T=)
c.1591-11T= (n.1591-11T=)
c.1180-11T= (n.1180-11T=)
n.2703-11T=
5g.13886140A>CCA557877052DNAH5c.2578-11T>G (n.2578-11T>G)
c.2533-11T>G (n.2533-11T>G)
n.2785-11T>G
c.2686-11T>G (n.2686-11T>G)
c.1591-11T>G (n.1591-11T>G)
c.1180-11T>G (n.1180-11T>G)
n.2703-11T>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13886140A>GCA2673277340DNAH5c.2578-11T>C (n.2578-11T>C)
c.2533-11T>C (n.2533-11T>C)
n.2785-11T>C
c.2686-11T>C (n.2686-11T>C)
c.1591-11T>C (n.1591-11T>C)
c.1180-11T>C (n.1180-11T>C)
n.2703-11T>C
 gnomAD v4
5g.13886141A=CA1528483868DNAH5c.2578-12T= (n.2578-12T=)
c.2533-12T= (n.2533-12T=)
n.2785-12T=
c.2686-12T= (n.2686-12T=)
c.1591-12T= (n.1591-12T=)
c.1180-12T= (n.1180-12T=)
n.2703-12T=
5g.13886141A>CCA557877053DNAH5c.2578-12T>G (n.2578-12T>G)
c.2533-12T>G (n.2533-12T>G)
n.2785-12T>G
c.2686-12T>G (n.2686-12T>G)
c.1591-12T>G (n.1591-12T>G)
c.1180-12T>G (n.1180-12T>G)
n.2703-12T>G
 dbSNP gnomAD v2 gnomAD v4
5g.13886141A>GCA2673277341DNAH5c.2578-12T>C (n.2578-12T>C)
c.2533-12T>C (n.2533-12T>C)
n.2785-12T>C
c.2686-12T>C (n.2686-12T>C)
c.1591-12T>C (n.1591-12T>C)
c.1180-12T>C (n.1180-12T>C)
n.2703-12T>C
 gnomAD v4
5g.13886142A=CA1528483869DNAH5c.2578-13T= (n.2578-13T=)
c.2533-13T= (n.2533-13T=)
n.2785-13T=
c.2686-13T= (n.2686-13T=)
c.1591-13T= (n.1591-13T=)
c.1180-13T= (n.1180-13T=)
n.2703-13T=
5g.13886142A>CCA557877054DNAH5c.2578-13T>G (n.2578-13T>G)
c.2533-13T>G (n.2533-13T>G)
n.2785-13T>G
c.2686-13T>G (n.2686-13T>G)
c.1591-13T>G (n.1591-13T>G)
c.1180-13T>G (n.1180-13T>G)
n.2703-13T>G
 dbSNP gnomAD v2 gnomAD v4
5g.13886142A>GCA650071851DNAH5c.2578-13T>C (n.2578-13T>C)
c.2533-13T>C (n.2533-13T>C)
n.2785-13T>C
c.2686-13T>C (n.2686-13T>C)
c.1591-13T>C (n.1591-13T>C)
c.1180-13T>C (n.1180-13T>C)
n.2703-13T>C
 dbSNP COSMIC
5g.13886142A>TCA2673277342DNAH5c.2578-13T>A (n.2578-13T>A)
c.2533-13T>A (n.2533-13T>A)
n.2785-13T>A
c.2686-13T>A (n.2686-13T>A)
c.1591-13T>A (n.1591-13T>A)
c.1180-13T>A (n.1180-13T>A)
n.2703-13T>A
 gnomAD v4
5g.13886143A=CA1528483870DNAH5c.2578-14T= (n.2578-14T=)
c.2533-14T= (n.2533-14T=)
n.2785-14T=
c.2686-14T= (n.2686-14T=)
c.1591-14T= (n.1591-14T=)
c.1180-14T= (n.1180-14T=)
n.2703-14T=
5g.13886143A>CCA804560614DNAH5c.2578-14T>G (n.2578-14T>G)
c.2533-14T>G (n.2533-14T>G)
n.2785-14T>G
c.2686-14T>G (n.2686-14T>G)
c.1591-14T>G (n.1591-14T>G)
c.1180-14T>G (n.1180-14T>G)
n.2703-14T>G
 dbSNP gnomAD v4
5g.13886143A>TCA2673277343DNAH5c.2578-14T>A (n.2578-14T>A)
c.2533-14T>A (n.2533-14T>A)
n.2785-14T>A
c.2686-14T>A (n.2686-14T>A)
c.1591-14T>A (n.1591-14T>A)
c.1180-14T>A (n.1180-14T>A)
n.2703-14T>A
 gnomAD v4
5g.13886143_13886144insGCA2673277344DNAH5c.2578-15_2578-14insC (n.2578-15_2578-14insC)
c.2533-15_2533-14insC (n.2533-15_2533-14insC)
n.2785-15_2785-14insC
c.2686-15_2686-14insC (n.2686-15_2686-14insC)
c.1591-15_1591-14insC (n.1591-15_1591-14insC)
c.1180-15_1180-14insC (n.1180-15_1180-14insC)
n.2703-15_2703-14insC
 gnomAD v4
5g.13886144A=CA1528483871DNAH5c.2578-15T= (n.2578-15T=)
c.2533-15T= (n.2533-15T=)
n.2785-15T=
c.2686-15T= (n.2686-15T=)
c.1591-15T= (n.1591-15T=)
c.1180-15T= (n.1180-15T=)
n.2703-15T=
5g.13886144A>GCA1528483872DNAH5c.2578-15T>C (n.2578-15T>C)
c.2533-15T>C (n.2533-15T>C)
n.2785-15T>C
c.2686-15T>C (n.2686-15T>C)
c.1591-15T>C (n.1591-15T>C)
c.1180-15T>C (n.1180-15T>C)
n.2703-15T>C
 dbSNP
5g.13886145A=CA1528483873DNAH5c.2578-16T= (n.2578-16T=)
c.2533-16T= (n.2533-16T=)
n.2785-16T=
c.2686-16T= (n.2686-16T=)
c.1591-16T= (n.1591-16T=)
c.1180-16T= (n.1180-16T=)
n.2703-16T=
5g.13886145A>CCA1528483874DNAH5c.2578-16T>G (n.2578-16T>G)
c.2533-16T>G (n.2533-16T>G)
n.2785-16T>G
c.2686-16T>G (n.2686-16T>G)
c.1591-16T>G (n.1591-16T>G)
c.1180-16T>G (n.1180-16T>G)
n.2703-16T>G
 dbSNP gnomAD v4
5g.13886145A>GCA2673277345DNAH5c.2578-16T>C (n.2578-16T>C)
c.2533-16T>C (n.2533-16T>C)
n.2785-16T>C
c.2686-16T>C (n.2686-16T>C)
c.1591-16T>C (n.1591-16T>C)
c.1180-16T>C (n.1180-16T>C)
n.2703-16T>C
 gnomAD v4
5g.13886145_13886146insCCCA2765351040DNAH5c.2578-17_2578-16insGG (n.2578-17_2578-16insGG)
c.2533-17_2533-16insGG (n.2533-17_2533-16insGG)
n.2785-17_2785-16insGG
c.2686-17_2686-16insGG (n.2686-17_2686-16insGG)
c.1591-17_1591-16insGG (n.1591-17_1591-16insGG)
c.1180-17_1180-16insGG (n.1180-17_1180-16insGG)
n.2703-17_2703-16insGG
5g.13886146A>GCA2673277346DNAH5c.2578-17T>C (n.2578-17T>C)
c.2533-17T>C (n.2533-17T>C)
n.2785-17T>C
c.2686-17T>C (n.2686-17T>C)
c.1591-17T>C (n.1591-17T>C)
c.1180-17T>C (n.1180-17T>C)
n.2703-17T>C
 gnomAD v4
5g.13886147A>GCA2673277347DNAH5c.2578-18T>C (n.2578-18T>C)
c.2533-18T>C (n.2533-18T>C)
n.2785-18T>C
c.2686-18T>C (n.2686-18T>C)
c.1591-18T>C (n.1591-18T>C)
c.1180-18T>C (n.1180-18T>C)
n.2703-18T>C
 ClinVar gnomAD v4
5g.13886148A>GCA2673277348DNAH5c.2578-19T>C (n.2578-19T>C)
c.2533-19T>C (n.2533-19T>C)
n.2785-19T>C
c.2686-19T>C (n.2686-19T>C)
c.1591-19T>C (n.1591-19T>C)
c.1180-19T>C (n.1180-19T>C)
n.2703-19T>C
 gnomAD v4
5g.13886148A>TCA2673277349DNAH5c.2578-19T>A (n.2578-19T>A)
c.2533-19T>A (n.2533-19T>A)
n.2785-19T>A
c.2686-19T>A (n.2686-19T>A)
c.1591-19T>A (n.1591-19T>A)
c.1180-19T>A (n.1180-19T>A)
n.2703-19T>A
 gnomAD v4

Number of alleles fetched