Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.13793610C>ACA359221310DNAH5c.8129G>T (p.Gly2710Val)
c.8084G>T (p.Gly2695Val)
n.8336G>T
c.8237G>T (p.Gly2746Val)
c.7142G>T (p.Gly2381Val)
c.3326G>T (p.Gly1109Val)
c.2879G>T (p.Gly960Val)
c.2216G>T (p.Gly739Val)
c.6731G>T (p.Gly2244Val)
n.8254G>T
5g.13793610C=CA1528441662DNAH5c.8129G= (p.Gly2710=)
c.8084G= (p.Gly2695=)
n.8336G=
c.8237G= (p.Gly2746=)
c.7142G= (p.Gly2381=)
c.3326G= (p.Gly1109=)
c.2879G= (p.Gly960=)
c.2216G= (p.Gly739=)
c.6731G= (p.Gly2244=)
n.8254G=
5g.13793610C>GCA359221308DNAH5c.8129G>C (p.Gly2710Ala)
c.8084G>C (p.Gly2695Ala)
n.8336G>C
c.8237G>C (p.Gly2746Ala)
c.7142G>C (p.Gly2381Ala)
c.3326G>C (p.Gly1109Ala)
c.2879G>C (p.Gly960Ala)
c.2216G>C (p.Gly739Ala)
c.6731G>C (p.Gly2244Ala)
n.8254G>C
5g.13793610C>TCA359221309DNAH5c.8129G>A (p.Gly2710Asp)
c.8084G>A (p.Gly2695Asp)
n.8336G>A
c.8237G>A (p.Gly2746Asp)
c.7142G>A (p.Gly2381Asp)
c.3326G>A (p.Gly1109Asp)
c.2879G>A (p.Gly960Asp)
c.2216G>A (p.Gly739Asp)
c.6731G>A (p.Gly2244Asp)
n.8254G>A
 dbSNP gnomAD v3 gnomAD v4
5g.13793611C>ACA359221311DNAH5c.8128G>T (p.Gly2710Cys)
c.8083G>T (p.Gly2695Cys)
n.8335G>T
c.8236G>T (p.Gly2746Cys)
c.7141G>T (p.Gly2381Cys)
c.3325G>T (p.Gly1109Cys)
c.2878G>T (p.Gly960Cys)
c.2215G>T (p.Gly739Cys)
c.6730G>T (p.Gly2244Cys)
n.8253G>T
 COSMIC
5g.13793611C=CA1528441663DNAH5c.8128G= (p.Gly2710=)
c.8083G= (p.Gly2695=)
n.8335G=
c.8236G= (p.Gly2746=)
c.7141G= (p.Gly2381=)
c.3325G= (p.Gly1109=)
c.2878G= (p.Gly960=)
c.2215G= (p.Gly739=)
c.6730G= (p.Gly2244=)
n.8253G=
5g.13793611C>GCA359221313DNAH5c.8128G>C (p.Gly2710Arg)
c.8083G>C (p.Gly2695Arg)
n.8335G>C
c.8236G>C (p.Gly2746Arg)
c.7141G>C (p.Gly2381Arg)
c.3325G>C (p.Gly1109Arg)
c.2878G>C (p.Gly960Arg)
c.2215G>C (p.Gly739Arg)
c.6730G>C (p.Gly2244Arg)
n.8253G>C
5g.13793611C>TCA359221314DNAH5c.8128G>A (p.Gly2710Ser)
c.8083G>A (p.Gly2695Ser)
n.8335G>A
c.8236G>A (p.Gly2746Ser)
c.7141G>A (p.Gly2381Ser)
c.3325G>A (p.Gly1109Ser)
c.2878G>A (p.Gly960Ser)
c.2215G>A (p.Gly739Ser)
c.6730G>A (p.Gly2244Ser)
n.8253G>A
 ClinVar dbSNP gnomAD v4
5g.13793612A=CA1528441664DNAH5c.8127T= (p.Pro2709=)
c.8082T= (p.Pro2694=)
n.8334T=
c.8235T= (p.Pro2745=)
c.7140T= (p.Pro2380=)
c.3324T= (p.Pro1108=)
c.2877T= (p.Pro959=)
c.2214T= (p.Pro738=)
c.6729T= (p.Pro2243=)
n.8252T=
5g.13793612A>CCA443266130DNAH5c.8127T>G (p.Pro2709=)
c.8082T>G (p.Pro2694=)
n.8334T>G
c.8235T>G (p.Pro2745=)
c.7140T>G (p.Pro2380=)
c.3324T>G (p.Pro1108=)
c.2877T>G (p.Pro959=)
c.2214T>G (p.Pro738=)
c.6729T>G (p.Pro2243=)
n.8252T>G
5g.13793612A>GCA443266132DNAH5c.8127T>C (p.Pro2709=)
c.8082T>C (p.Pro2694=)
n.8334T>C
c.8235T>C (p.Pro2745=)
c.7140T>C (p.Pro2380=)
c.3324T>C (p.Pro1108=)
c.2877T>C (p.Pro959=)
c.2214T>C (p.Pro738=)
c.6729T>C (p.Pro2243=)
n.8252T>C
 ClinVar dbSNP gnomAD v4
5g.13793612A>TCA443266136DNAH5c.8127T>A (p.Pro2709=)
c.8082T>A (p.Pro2694=)
n.8334T>A
c.8235T>A (p.Pro2745=)
c.7140T>A (p.Pro2380=)
c.3324T>A (p.Pro1108=)
c.2877T>A (p.Pro959=)
c.2214T>A (p.Pro738=)
c.6729T>A (p.Pro2243=)
n.8252T>A
5g.13793613G>ACA3202892DNAH5c.8126C>T (p.Pro2709Leu)
c.8081C>T (p.Pro2694Leu)
n.8333C>T
c.8234C>T (p.Pro2745Leu)
c.7139C>T (p.Pro2380Leu)
c.3323C>T (p.Pro1108Leu)
c.2876C>T (p.Pro959Leu)
c.2213C>T (p.Pro738Leu)
c.6728C>T (p.Pro2243Leu)
n.8251C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13793613G>CCA359221316DNAH5c.8126C>G (p.Pro2709Arg)
c.8081C>G (p.Pro2694Arg)
n.8333C>G
c.8234C>G (p.Pro2745Arg)
c.7139C>G (p.Pro2380Arg)
c.3323C>G (p.Pro1108Arg)
c.2876C>G (p.Pro959Arg)
c.2213C>G (p.Pro738Arg)
c.6728C>G (p.Pro2243Arg)
n.8251C>G
5g.13793613G=CA1528441665DNAH5c.8126C= (p.Pro2709=)
c.8081C= (p.Pro2694=)
n.8333C=
c.8234C= (p.Pro2745=)
c.7139C= (p.Pro2380=)
c.3323C= (p.Pro1108=)
c.2876C= (p.Pro959=)
c.2213C= (p.Pro738=)
c.6728C= (p.Pro2243=)
n.8251C=
5g.13793613G>TCA359221317DNAH5c.8126C>A (p.Pro2709His)
c.8081C>A (p.Pro2694His)
n.8333C>A
c.8234C>A (p.Pro2745His)
c.7139C>A (p.Pro2380His)
c.3323C>A (p.Pro1108His)
c.2876C>A (p.Pro959His)
c.2213C>A (p.Pro738His)
c.6728C>A (p.Pro2243His)
n.8251C>A
5g.13793614G>ACA359221319DNAH5c.8125C>T (p.Pro2709Ser)
c.8080C>T (p.Pro2694Ser)
n.8332C>T
c.8233C>T (p.Pro2745Ser)
c.7138C>T (p.Pro2380Ser)
c.3322C>T (p.Pro1108Ser)
c.2875C>T (p.Pro959Ser)
c.2212C>T (p.Pro738Ser)
c.6727C>T (p.Pro2243Ser)
n.8250C>T
 gnomAD v4
5g.13793614G>CCA359221321DNAH5c.8125C>G (p.Pro2709Ala)
c.8080C>G (p.Pro2694Ala)
n.8332C>G
c.8233C>G (p.Pro2745Ala)
c.7138C>G (p.Pro2380Ala)
c.3322C>G (p.Pro1108Ala)
c.2875C>G (p.Pro959Ala)
c.2212C>G (p.Pro738Ala)
c.6727C>G (p.Pro2243Ala)
n.8250C>G
5g.13793614G>TCA359221322DNAH5c.8125C>A (p.Pro2709Thr)
c.8080C>A (p.Pro2694Thr)
n.8332C>A
c.8233C>A (p.Pro2745Thr)
c.7138C>A (p.Pro2380Thr)
c.3322C>A (p.Pro1108Thr)
c.2875C>A (p.Pro959Thr)
c.2212C>A (p.Pro738Thr)
c.6727C>A (p.Pro2243Thr)
n.8250C>A
5g.13793615A>CCA359221324DNAH5c.8124T>G (p.His2708Gln)
c.8079T>G (p.His2693Gln)
n.8331T>G
c.8232T>G (p.His2744Gln)
c.7137T>G (p.His2379Gln)
c.3321T>G (p.His1107Gln)
c.2874T>G (p.His958Gln)
c.2211T>G (p.His737Gln)
c.6726T>G (p.His2242Gln)
n.8249T>G
5g.13793615A>GCA443266152DNAH5c.8124T>C (p.His2708=)
c.8079T>C (p.His2693=)
n.8331T>C
c.8232T>C (p.His2744=)
c.7137T>C (p.His2379=)
c.3321T>C (p.His1107=)
c.2874T>C (p.His958=)
c.2211T>C (p.His737=)
c.6726T>C (p.His2242=)
n.8249T>C
5g.13793615A>TCA359221325DNAH5c.8124T>A (p.His2708Gln)
c.8079T>A (p.His2693Gln)
n.8331T>A
c.8232T>A (p.His2744Gln)
c.7137T>A (p.His2379Gln)
c.3321T>A (p.His1107Gln)
c.2874T>A (p.His958Gln)
c.2211T>A (p.His737Gln)
c.6726T>A (p.His2242Gln)
n.8249T>A
5g.13793616T>ACA359221329DNAH5c.8123A>T (p.His2708Leu)
c.8078A>T (p.His2693Leu)
n.8330A>T
c.8231A>T (p.His2744Leu)
c.7136A>T (p.His2379Leu)
c.3320A>T (p.His1107Leu)
c.2873A>T (p.His958Leu)
c.2210A>T (p.His737Leu)
c.6725A>T (p.His2242Leu)
n.8248A>T
5g.13793616T>CCA3202893DNAH5c.8123A>G (p.His2708Arg)
c.8078A>G (p.His2693Arg)
n.8330A>G
c.8231A>G (p.His2744Arg)
c.7136A>G (p.His2379Arg)
c.3320A>G (p.His1107Arg)
c.2873A>G (p.His958Arg)
c.2210A>G (p.His737Arg)
c.6725A>G (p.His2242Arg)
n.8248A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13793616T>GCA359221327DNAH5c.8123A>C (p.His2708Pro)
c.8078A>C (p.His2693Pro)
n.8330A>C
c.8231A>C (p.His2744Pro)
c.7136A>C (p.His2379Pro)
c.3320A>C (p.His1107Pro)
c.2873A>C (p.His958Pro)
c.2210A>C (p.His737Pro)
c.6725A>C (p.His2242Pro)
n.8248A>C
5g.13793616T=CA1528441666DNAH5c.8123A= (p.His2708=)
c.8078A= (p.His2693=)
n.8330A=
c.8231A= (p.His2744=)
c.7136A= (p.His2379=)
c.3320A= (p.His1107=)
c.2873A= (p.His958=)
c.2210A= (p.His737=)
c.6725A= (p.His2242=)
n.8248A=
5g.13793617G>ACA359221330DNAH5c.8122C>T (p.His2708Tyr)
c.8077C>T (p.His2693Tyr)
n.8329C>T
c.8230C>T (p.His2744Tyr)
c.7135C>T (p.His2379Tyr)
c.3319C>T (p.His1107Tyr)
c.2872C>T (p.His958Tyr)
c.2209C>T (p.His737Tyr)
c.6724C>T (p.His2242Tyr)
n.8247C>T
 ClinVar dbSNP
5g.13793617G>CCA359221332DNAH5c.8122C>G (p.His2708Asp)
c.8077C>G (p.His2693Asp)
n.8329C>G
c.8230C>G (p.His2744Asp)
c.7135C>G (p.His2379Asp)
c.3319C>G (p.His1107Asp)
c.2872C>G (p.His958Asp)
c.2209C>G (p.His737Asp)
c.6724C>G (p.His2242Asp)
n.8247C>G
5g.13793617G=CA1528441667DNAH5c.8122C= (p.His2708=)
c.8077C= (p.His2693=)
n.8329C=
c.8230C= (p.His2744=)
c.7135C= (p.His2379=)
c.3319C= (p.His1107=)
c.2872C= (p.His958=)
c.2209C= (p.His737=)
c.6724C= (p.His2242=)
n.8247C=
5g.13793617G>TCA359221334DNAH5c.8122C>A (p.His2708Asn)
c.8077C>A (p.His2693Asn)
n.8329C>A
c.8230C>A (p.His2744Asn)
c.7135C>A (p.His2379Asn)
c.3319C>A (p.His1107Asn)
c.2872C>A (p.His958Asn)
c.2209C>A (p.His737Asn)
c.6724C>A (p.His2242Asn)
n.8247C>A
5g.13793618G>ACA443266164DNAH5c.8121C>T (p.Ile2707=)
c.8076C>T (p.Ile2692=)
n.8328C>T
c.8229C>T (p.Ile2743=)
c.7134C>T (p.Ile2378=)
c.3318C>T (p.Ile1106=)
c.2871C>T (p.Ile957=)
c.2208C>T (p.Ile736=)
c.6723C>T (p.Ile2241=)
n.8246C>T
 ClinVar COSMIC
5g.13793618G>CCA359221335DNAH5c.8121C>G (p.Ile2707Met)
c.8076C>G (p.Ile2692Met)
n.8328C>G
c.8229C>G (p.Ile2743Met)
c.7134C>G (p.Ile2378Met)
c.3318C>G (p.Ile1106Met)
c.2871C>G (p.Ile957Met)
c.2208C>G (p.Ile736Met)
c.6723C>G (p.Ile2241Met)
n.8246C>G
5g.13793618G>TCA443266168DNAH5c.8121C>A (p.Ile2707=)
c.8076C>A (p.Ile2692=)
n.8328C>A
c.8229C>A (p.Ile2743=)
c.7134C>A (p.Ile2378=)
c.3318C>A (p.Ile1106=)
c.2871C>A (p.Ile957=)
c.2208C>A (p.Ile736=)
c.6723C>A (p.Ile2241=)
n.8246C>A
5g.13793619A=CA1528441668DNAH5c.8120T= (p.Ile2707=)
c.8075T= (p.Ile2692=)
n.8327T=
c.8228T= (p.Ile2743=)
c.7133T= (p.Ile2378=)
c.3317T= (p.Ile1106=)
c.2870T= (p.Ile957=)
c.2207T= (p.Ile736=)
c.6722T= (p.Ile2241=)
n.8245T=
5g.13793619A>CCA113961843DNAH5c.8120T>G (p.Ile2707Ser)
c.8075T>G (p.Ile2692Ser)
n.8327T>G
c.8228T>G (p.Ile2743Ser)
c.7133T>G (p.Ile2378Ser)
c.3317T>G (p.Ile1106Ser)
c.2870T>G (p.Ile957Ser)
c.2207T>G (p.Ile736Ser)
c.6722T>G (p.Ile2241Ser)
n.8245T>G
 dbSNP gnomAD v3 gnomAD v4
5g.13793619A>GCA359221337DNAH5c.8120T>C (p.Ile2707Thr)
c.8075T>C (p.Ile2692Thr)
n.8327T>C
c.8228T>C (p.Ile2743Thr)
c.7133T>C (p.Ile2378Thr)
c.3317T>C (p.Ile1106Thr)
c.2870T>C (p.Ile957Thr)
c.2207T>C (p.Ile736Thr)
c.6722T>C (p.Ile2241Thr)
n.8245T>C
 dbSNP gnomAD v3 gnomAD v4
5g.13793619A>TCA359221339DNAH5c.8120T>A (p.Ile2707Asn)
c.8075T>A (p.Ile2692Asn)
n.8327T>A
c.8228T>A (p.Ile2743Asn)
c.7133T>A (p.Ile2378Asn)
c.3317T>A (p.Ile1106Asn)
c.2870T>A (p.Ile957Asn)
c.2207T>A (p.Ile736Asn)
c.6722T>A (p.Ile2241Asn)
n.8245T>A
5g.13793620T>ACA359221340DNAH5c.8119A>T (p.Ile2707Phe)
c.8074A>T (p.Ile2692Phe)
n.8326A>T
c.8227A>T (p.Ile2743Phe)
c.7132A>T (p.Ile2378Phe)
c.3316A>T (p.Ile1106Phe)
c.2869A>T (p.Ile957Phe)
c.2206A>T (p.Ile736Phe)
c.6721A>T (p.Ile2241Phe)
n.8244A>T
5g.13793620T>CCA3202894DNAH5c.8119A>G (p.Ile2707Val)
c.8074A>G (p.Ile2692Val)
n.8326A>G
c.8227A>G (p.Ile2743Val)
c.7132A>G (p.Ile2378Val)
c.3316A>G (p.Ile1106Val)
c.2869A>G (p.Ile957Val)
c.2206A>G (p.Ile736Val)
c.6721A>G (p.Ile2241Val)
n.8244A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13793620T>GCA359221341DNAH5c.8119A>C (p.Ile2707Leu)
c.8074A>C (p.Ile2692Leu)
n.8326A>C
c.8227A>C (p.Ile2743Leu)
c.7132A>C (p.Ile2378Leu)
c.3316A>C (p.Ile1106Leu)
c.2869A>C (p.Ile957Leu)
c.2206A>C (p.Ile736Leu)
c.6721A>C (p.Ile2241Leu)
n.8244A>C
5g.13793620T=CA1528441669DNAH5c.8119A= (p.Ile2707=)
c.8074A= (p.Ile2692=)
n.8326A=
c.8227A= (p.Ile2743=)
c.7132A= (p.Ile2378=)
c.3316A= (p.Ile1106=)
c.2869A= (p.Ile957=)
c.2206A= (p.Ile736=)
c.6721A= (p.Ile2241=)
n.8244A=
5g.13793621C>ACA359221342DNAH5c.8118G>T (p.Met2706Ile)
c.8073G>T (p.Met2691Ile)
n.8325G>T
c.8226G>T (p.Met2742Ile)
c.7131G>T (p.Met2377Ile)
c.3315G>T (p.Met1105Ile)
c.2868G>T (p.Met956Ile)
c.2205G>T (p.Met735Ile)
c.6720G>T (p.Met2240Ile)
n.8243G>T
5g.13793621C>GCA359221343DNAH5c.8118G>C (p.Met2706Ile)
c.8073G>C (p.Met2691Ile)
n.8325G>C
c.8226G>C (p.Met2742Ile)
c.7131G>C (p.Met2377Ile)
c.3315G>C (p.Met1105Ile)
c.2868G>C (p.Met956Ile)
c.2205G>C (p.Met735Ile)
c.6720G>C (p.Met2240Ile)
n.8243G>C
5g.13793621C>TCA359221344DNAH5c.8118G>A (p.Met2706Ile)
c.8073G>A (p.Met2691Ile)
n.8325G>A
c.8226G>A (p.Met2742Ile)
c.7131G>A (p.Met2377Ile)
c.3315G>A (p.Met1105Ile)
c.2868G>A (p.Met956Ile)
c.2205G>A (p.Met735Ile)
c.6720G>A (p.Met2240Ile)
n.8243G>A
5g.13793622A=CA1528441670DNAH5c.8117T= (p.Met2706=)
c.8072T= (p.Met2691=)
n.8324T=
c.8225T= (p.Met2742=)
c.7130T= (p.Met2377=)
c.3314T= (p.Met1105=)
c.2867T= (p.Met956=)
c.2204T= (p.Met735=)
c.6719T= (p.Met2240=)
n.8242T=
5g.13793622A>CCA359221348DNAH5c.8117T>G (p.Met2706Arg)
c.8072T>G (p.Met2691Arg)
n.8324T>G
c.8225T>G (p.Met2742Arg)
c.7130T>G (p.Met2377Arg)
c.3314T>G (p.Met1105Arg)
c.2867T>G (p.Met956Arg)
c.2204T>G (p.Met735Arg)
c.6719T>G (p.Met2240Arg)
n.8242T>G
5g.13793622A>GCA3202895DNAH5c.8117T>C (p.Met2706Thr)
c.8072T>C (p.Met2691Thr)
n.8324T>C
c.8225T>C (p.Met2742Thr)
c.7130T>C (p.Met2377Thr)
c.3314T>C (p.Met1105Thr)
c.2867T>C (p.Met956Thr)
c.2204T>C (p.Met735Thr)
c.6719T>C (p.Met2240Thr)
n.8242T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13793622A>TCA359221347DNAH5c.8117T>A (p.Met2706Lys)
c.8072T>A (p.Met2691Lys)
n.8324T>A
c.8225T>A (p.Met2742Lys)
c.7130T>A (p.Met2377Lys)
c.3314T>A (p.Met1105Lys)
c.2867T>A (p.Met956Lys)
c.2204T>A (p.Met735Lys)
c.6719T>A (p.Met2240Lys)
n.8242T>A
5g.13793623T>ACA359221350DNAH5c.8116A>T (p.Met2706Leu)
c.8071A>T (p.Met2691Leu)
n.8323A>T
c.8224A>T (p.Met2742Leu)
c.7129A>T (p.Met2377Leu)
c.3313A>T (p.Met1105Leu)
c.2866A>T (p.Met956Leu)
c.2203A>T (p.Met735Leu)
c.6718A>T (p.Met2240Leu)
n.8241A>T
5g.13793623T>CCA3202896DNAH5c.8116A>G (p.Met2706Val)
c.8071A>G (p.Met2691Val)
n.8323A>G
c.8224A>G (p.Met2742Val)
c.7129A>G (p.Met2377Val)
c.3313A>G (p.Met1105Val)
c.2866A>G (p.Met956Val)
c.2203A>G (p.Met735Val)
c.6718A>G (p.Met2240Val)
n.8241A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13793623T>GCA359221351DNAH5c.8116A>C (p.Met2706Leu)
c.8071A>C (p.Met2691Leu)
n.8323A>C
c.8224A>C (p.Met2742Leu)
c.7129A>C (p.Met2377Leu)
c.3313A>C (p.Met1105Leu)
c.2866A>C (p.Met956Leu)
c.2203A>C (p.Met735Leu)
c.6718A>C (p.Met2240Leu)
n.8241A>C
5g.13793623T=CA1528441671DNAH5c.8116A= (p.Met2706=)
c.8071A= (p.Met2691=)
n.8323A=
c.8224A= (p.Met2742=)
c.7129A= (p.Met2377=)
c.3313A= (p.Met1105=)
c.2866A= (p.Met956=)
c.2203A= (p.Met735=)
c.6718A= (p.Met2240=)
n.8241A=
5g.13793624G>ACA443266204DNAH5c.8115C>T (p.Ala2705=)
c.8070C>T (p.Ala2690=)
n.8322C>T
c.8223C>T (p.Ala2741=)
c.7128C>T (p.Ala2376=)
c.3312C>T (p.Ala1104=)
c.2865C>T (p.Ala955=)
c.2202C>T (p.Ala734=)
c.6717C>T (p.Ala2239=)
n.8240C>T
 gnomAD v4
5g.13793624G>CCA443266207DNAH5c.8115C>G (p.Ala2705=)
c.8070C>G (p.Ala2690=)
n.8322C>G
c.8223C>G (p.Ala2741=)
c.7128C>G (p.Ala2376=)
c.3312C>G (p.Ala1104=)
c.2865C>G (p.Ala955=)
c.2202C>G (p.Ala734=)
c.6717C>G (p.Ala2239=)
n.8240C>G
 dbSNP gnomAD v3 gnomAD v4
5g.13793624G=CA1528441672DNAH5c.8115C= (p.Ala2705=)
c.8070C= (p.Ala2690=)
n.8322C=
c.8223C= (p.Ala2741=)
c.7128C= (p.Ala2376=)
c.3312C= (p.Ala1104=)
c.2865C= (p.Ala955=)
c.2202C= (p.Ala734=)
c.6717C= (p.Ala2239=)
n.8240C=
5g.13793624G>TCA443266208DNAH5c.8115C>A (p.Ala2705=)
c.8070C>A (p.Ala2690=)
n.8322C>A
c.8223C>A (p.Ala2741=)
c.7128C>A (p.Ala2376=)
c.3312C>A (p.Ala1104=)
c.2865C>A (p.Ala955=)
c.2202C>A (p.Ala734=)
c.6717C>A (p.Ala2239=)
n.8240C>A
5g.13793625G>ACA359221353DNAH5c.8114C>T (p.Ala2705Val)
c.8069C>T (p.Ala2690Val)
n.8321C>T
c.8222C>T (p.Ala2741Val)
c.7127C>T (p.Ala2376Val)
c.3311C>T (p.Ala1104Val)
c.2864C>T (p.Ala955Val)
c.2201C>T (p.Ala734Val)
c.6716C>T (p.Ala2239Val)
n.8239C>T
 COSMIC
5g.13793625G>CCA359221355DNAH5c.8114C>G (p.Ala2705Gly)
c.8069C>G (p.Ala2690Gly)
n.8321C>G
c.8222C>G (p.Ala2741Gly)
c.7127C>G (p.Ala2376Gly)
c.3311C>G (p.Ala1104Gly)
c.2864C>G (p.Ala955Gly)
c.2201C>G (p.Ala734Gly)
c.6716C>G (p.Ala2239Gly)
n.8239C>G
5g.13793625G=CA1528441673DNAH5c.8114C= (p.Ala2705=)
c.8069C= (p.Ala2690=)
n.8321C=
c.8222C= (p.Ala2741=)
c.7127C= (p.Ala2376=)
c.3311C= (p.Ala1104=)
c.2864C= (p.Ala955=)
c.2201C= (p.Ala734=)
c.6716C= (p.Ala2239=)
n.8239C=
5g.13793625G>TCA3202897DNAH5c.8114C>A (p.Ala2705Asp)
c.8069C>A (p.Ala2690Asp)
n.8321C>A
c.8222C>A (p.Ala2741Asp)
c.7127C>A (p.Ala2376Asp)
c.3311C>A (p.Ala1104Asp)
c.2864C>A (p.Ala955Asp)
c.2201C>A (p.Ala734Asp)
c.6716C>A (p.Ala2239Asp)
n.8239C>A
 dbSNP ExAC gnomAD v2
5g.13793626C>ACA359221357DNAH5c.8113G>T (p.Ala2705Ser)
c.8068G>T (p.Ala2690Ser)
n.8320G>T
c.8221G>T (p.Ala2741Ser)
c.7126G>T (p.Ala2376Ser)
c.3310G>T (p.Ala1104Ser)
c.2863G>T (p.Ala955Ser)
c.2200G>T (p.Ala734Ser)
c.6715G>T (p.Ala2239Ser)
n.8238G>T
 gnomAD v4
5g.13793626C=CA1528441674DNAH5c.8113G= (p.Ala2705=)
c.8068G= (p.Ala2690=)
n.8320G=
c.8221G= (p.Ala2741=)
c.7126G= (p.Ala2376=)
c.3310G= (p.Ala1104=)
c.2863G= (p.Ala955=)
c.2200G= (p.Ala734=)
c.6715G= (p.Ala2239=)
n.8238G=
5g.13793626C>GCA359221359DNAH5c.8113G>C (p.Ala2705Pro)
c.8068G>C (p.Ala2690Pro)
n.8320G>C
c.8221G>C (p.Ala2741Pro)
c.7126G>C (p.Ala2376Pro)
c.3310G>C (p.Ala1104Pro)
c.2863G>C (p.Ala955Pro)
c.2200G>C (p.Ala734Pro)
c.6715G>C (p.Ala2239Pro)
n.8238G>C
5g.13793626C>TCA359221360DNAH5c.8113G>A (p.Ala2705Thr)
c.8068G>A (p.Ala2690Thr)
n.8320G>A
c.8221G>A (p.Ala2741Thr)
c.7126G>A (p.Ala2376Thr)
c.3310G>A (p.Ala1104Thr)
c.2863G>A (p.Ala955Thr)
c.2200G>A (p.Ala734Thr)
c.6715G>A (p.Ala2239Thr)
n.8238G>A
 dbSNP gnomAD v3 gnomAD v4
5g.13793627T>ACA443266225DNAH5c.8112A>T (p.Ala2704=)
c.8067A>T (p.Ala2689=)
n.8319A>T
c.8220A>T (p.Ala2740=)
c.7125A>T (p.Ala2375=)
c.3309A>T (p.Ala1103=)
c.2862A>T (p.Ala954=)
c.2199A>T (p.Ala733=)
c.6714A>T (p.Ala2238=)
n.8237A>T
5g.13793627T>CCA443266227DNAH5c.8112A>G (p.Ala2704=)
c.8067A>G (p.Ala2689=)
n.8319A>G
c.8220A>G (p.Ala2740=)
c.7125A>G (p.Ala2375=)
c.3309A>G (p.Ala1103=)
c.2862A>G (p.Ala954=)
c.2199A>G (p.Ala733=)
c.6714A>G (p.Ala2238=)
n.8237A>G
 ClinVar dbSNP gnomAD v4
5g.13793627T>GCA443266229DNAH5c.8112A>C (p.Ala2704=)
c.8067A>C (p.Ala2689=)
n.8319A>C
c.8220A>C (p.Ala2740=)
c.7125A>C (p.Ala2375=)
c.3309A>C (p.Ala1103=)
c.2862A>C (p.Ala954=)
c.2199A>C (p.Ala733=)
c.6714A>C (p.Ala2238=)
n.8237A>C
5g.13793627T=CA1528441675DNAH5c.8112A= (p.Ala2704=)
c.8067A= (p.Ala2689=)
n.8319A=
c.8220A= (p.Ala2740=)
c.7125A= (p.Ala2375=)
c.3309A= (p.Ala1103=)
c.2862A= (p.Ala954=)
c.2199A= (p.Ala733=)
c.6714A= (p.Ala2238=)
n.8237A=
5g.13793628G>ACA359221362DNAH5c.8111C>T (p.Ala2704Val)
c.8066C>T (p.Ala2689Val)
n.8318C>T
c.8219C>T (p.Ala2740Val)
c.7124C>T (p.Ala2375Val)
c.3308C>T (p.Ala1103Val)
c.2861C>T (p.Ala954Val)
c.2198C>T (p.Ala733Val)
c.6713C>T (p.Ala2238Val)
n.8236C>T
 COSMIC
5g.13793628G>CCA359221364DNAH5c.8111C>G (p.Ala2704Gly)
c.8066C>G (p.Ala2689Gly)
n.8318C>G
c.8219C>G (p.Ala2740Gly)
c.7124C>G (p.Ala2375Gly)
c.3308C>G (p.Ala1103Gly)
c.2861C>G (p.Ala954Gly)
c.2198C>G (p.Ala733Gly)
c.6713C>G (p.Ala2238Gly)
n.8236C>G
5g.13793628G>TCA359221365DNAH5c.8111C>A (p.Ala2704Glu)
c.8066C>A (p.Ala2689Glu)
n.8318C>A
c.8219C>A (p.Ala2740Glu)
c.7124C>A (p.Ala2375Glu)
c.3308C>A (p.Ala1103Glu)
c.2861C>A (p.Ala954Glu)
c.2198C>A (p.Ala733Glu)
c.6713C>A (p.Ala2238Glu)
n.8236C>A
5g.13793629C>ACA359221368DNAH5c.8110G>T (p.Ala2704Ser)
c.8065G>T (p.Ala2689Ser)
n.8317G>T
c.8218G>T (p.Ala2740Ser)
c.7123G>T (p.Ala2375Ser)
c.3307G>T (p.Ala1103Ser)
c.2860G>T (p.Ala954Ser)
c.2197G>T (p.Ala733Ser)
c.6712G>T (p.Ala2238Ser)
n.8235G>T
 gnomAD v4
5g.13793629C>GCA359221370DNAH5c.8110G>C (p.Ala2704Pro)
c.8065G>C (p.Ala2689Pro)
n.8317G>C
c.8218G>C (p.Ala2740Pro)
c.7123G>C (p.Ala2375Pro)
c.3307G>C (p.Ala1103Pro)
c.2860G>C (p.Ala954Pro)
c.2197G>C (p.Ala733Pro)
c.6712G>C (p.Ala2238Pro)
n.8235G>C
5g.13793629C>TCA359221366DNAH5c.8110G>A (p.Ala2704Thr)
c.8065G>A (p.Ala2689Thr)
n.8317G>A
c.8218G>A (p.Ala2740Thr)
c.7123G>A (p.Ala2375Thr)
c.3307G>A (p.Ala1103Thr)
c.2860G>A (p.Ala954Thr)
c.2197G>A (p.Ala733Thr)
c.6712G>A (p.Ala2238Thr)
n.8235G>A
 gnomAD v4
5g.13793630C>ACA359221372DNAH5c.8109G>T (p.Leu2703Phe)
c.8064G>T (p.Leu2688Phe)
n.8316G>T
c.8217G>T (p.Leu2739Phe)
c.7122G>T (p.Leu2374Phe)
c.3306G>T (p.Leu1102Phe)
c.2859G>T (p.Leu953Phe)
c.2196G>T (p.Leu732Phe)
c.6711G>T (p.Leu2237Phe)
n.8234G>T
5g.13793630C=CA1528441676DNAH5c.8109G= (p.Leu2703=)
c.8064G= (p.Leu2688=)
n.8316G=
c.8217G= (p.Leu2739=)
c.7122G= (p.Leu2374=)
c.3306G= (p.Leu1102=)
c.2859G= (p.Leu953=)
c.2196G= (p.Leu732=)
c.6711G= (p.Leu2237=)
n.8234G=
5g.13793630C>GCA359221371DNAH5c.8109G>C (p.Leu2703Phe)
c.8064G>C (p.Leu2688Phe)
n.8316G>C
c.8217G>C (p.Leu2739Phe)
c.7122G>C (p.Leu2374Phe)
c.3306G>C (p.Leu1102Phe)
c.2859G>C (p.Leu953Phe)
c.2196G>C (p.Leu732Phe)
c.6711G>C (p.Leu2237Phe)
n.8234G>C
5g.13793630C>TCA443266249DNAH5c.8109G>A (p.Leu2703=)
c.8064G>A (p.Leu2688=)
n.8316G>A
c.8217G>A (p.Leu2739=)
c.7122G>A (p.Leu2374=)
c.3306G>A (p.Leu1102=)
c.2859G>A (p.Leu953=)
c.2196G>A (p.Leu732=)
c.6711G>A (p.Leu2237=)
n.8234G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13793631A>CCA359221377DNAH5c.8108T>G (p.Leu2703Trp)
c.8063T>G (p.Leu2688Trp)
n.8315T>G
c.8216T>G (p.Leu2739Trp)
c.7121T>G (p.Leu2374Trp)
c.3305T>G (p.Leu1102Trp)
c.2858T>G (p.Leu953Trp)
c.2195T>G (p.Leu732Trp)
c.6710T>G (p.Leu2237Trp)
n.8233T>G
5g.13793631A>GCA359221375DNAH5c.8108T>C (p.Leu2703Ser)
c.8063T>C (p.Leu2688Ser)
n.8315T>C
c.8216T>C (p.Leu2739Ser)
c.7121T>C (p.Leu2374Ser)
c.3305T>C (p.Leu1102Ser)
c.2858T>C (p.Leu953Ser)
c.2195T>C (p.Leu732Ser)
c.6710T>C (p.Leu2237Ser)
n.8233T>C
5g.13793631A>TCA359221376DNAH5c.8108T>A (p.Leu2703Ter)
c.8063T>A (p.Leu2688Ter)
n.8315T>A
c.8216T>A (p.Leu2739Ter)
c.7121T>A (p.Leu2374Ter)
c.3305T>A (p.Leu1102Ter)
c.2858T>A (p.Leu953Ter)
c.2195T>A (p.Leu732Ter)
c.6710T>A (p.Leu2237Ter)
n.8233T>A
5g.13793635delCA2673271249DNAH5c.8108del (p.Leu2703TrpfsTer4)
c.8063del (p.Leu2688TrpfsTer4)
n.8315del
c.8216del (p.Leu2739TrpfsTer4)
c.7121del (p.Leu2374TrpfsTer4)
c.3305del (p.Leu1102TrpfsTer4)
c.2858del (p.Leu953TrpfsTer4)
c.2195del (p.Leu732TrpfsTer4)
c.6710del (p.Leu2237TrpfsTer4)
n.8233del
 gnomAD v4
5g.13793632A>CCA359221379DNAH5c.8107T>G (p.Leu2703Val)
c.8062T>G (p.Leu2688Val)
n.8314T>G
c.8215T>G (p.Leu2739Val)
c.7120T>G (p.Leu2374Val)
c.3304T>G (p.Leu1102Val)
c.2857T>G (p.Leu953Val)
c.2194T>G (p.Leu732Val)
c.6709T>G (p.Leu2237Val)
n.8232T>G
5g.13793632A>GCA443266261DNAH5c.8107T>C (p.Leu2703=)
c.8062T>C (p.Leu2688=)
n.8314T>C
c.8215T>C (p.Leu2739=)
c.7120T>C (p.Leu2374=)
c.3304T>C (p.Leu1102=)
c.2857T>C (p.Leu953=)
c.2194T>C (p.Leu732=)
c.6709T>C (p.Leu2237=)
n.8232T>C
5g.13793632A>TCA359221380DNAH5c.8107T>A (p.Leu2703Met)
c.8062T>A (p.Leu2688Met)
n.8314T>A
c.8215T>A (p.Leu2739Met)
c.7120T>A (p.Leu2374Met)
c.3304T>A (p.Leu1102Met)
c.2857T>A (p.Leu953Met)
c.2194T>A (p.Leu732Met)
c.6709T>A (p.Leu2237Met)
n.8232T>A
5g.13793633A>CCA359221381DNAH5c.8106T>G (p.Phe2702Leu)
c.8061T>G (p.Phe2687Leu)
n.8313T>G
c.8214T>G (p.Phe2738Leu)
c.7119T>G (p.Phe2373Leu)
c.3303T>G (p.Phe1101Leu)
c.2856T>G (p.Phe952Leu)
c.2193T>G (p.Phe731Leu)
c.6708T>G (p.Phe2236Leu)
n.8231T>G
5g.13793633A>GCA443266268DNAH5c.8106T>C (p.Phe2702=)
c.8061T>C (p.Phe2687=)
n.8313T>C
c.8214T>C (p.Phe2738=)
c.7119T>C (p.Phe2373=)
c.3303T>C (p.Phe1101=)
c.2856T>C (p.Phe952=)
c.2193T>C (p.Phe731=)
c.6708T>C (p.Phe2236=)
n.8231T>C
5g.13793633A>TCA359221383DNAH5c.8106T>A (p.Phe2702Leu)
c.8061T>A (p.Phe2687Leu)
n.8313T>A
c.8214T>A (p.Phe2738Leu)
c.7119T>A (p.Phe2373Leu)
c.3303T>A (p.Phe1101Leu)
c.2856T>A (p.Phe952Leu)
c.2193T>A (p.Phe731Leu)
c.6708T>A (p.Phe2236Leu)
n.8231T>A
5g.13793634A>CCA359221388DNAH5c.8105T>G (p.Phe2702Cys)
c.8060T>G (p.Phe2687Cys)
n.8312T>G
c.8213T>G (p.Phe2738Cys)
c.7118T>G (p.Phe2373Cys)
c.3302T>G (p.Phe1101Cys)
c.2855T>G (p.Phe952Cys)
c.2192T>G (p.Phe731Cys)
c.6707T>G (p.Phe2236Cys)
n.8230T>G
5g.13793634A>GCA359221385DNAH5c.8105T>C (p.Phe2702Ser)
c.8060T>C (p.Phe2687Ser)
n.8312T>C
c.8213T>C (p.Phe2738Ser)
c.7118T>C (p.Phe2373Ser)
c.3302T>C (p.Phe1101Ser)
c.2855T>C (p.Phe952Ser)
c.2192T>C (p.Phe731Ser)
c.6707T>C (p.Phe2236Ser)
n.8230T>C
5g.13793634A>TCA359221386DNAH5c.8105T>A (p.Phe2702Tyr)
c.8060T>A (p.Phe2687Tyr)
n.8312T>A
c.8213T>A (p.Phe2738Tyr)
c.7118T>A (p.Phe2373Tyr)
c.3302T>A (p.Phe1101Tyr)
c.2855T>A (p.Phe952Tyr)
c.2192T>A (p.Phe731Tyr)
c.6707T>A (p.Phe2236Tyr)
n.8230T>A
5g.13793635A=CA1528441677DNAH5c.8104T= (p.Phe2702=)
c.8059T= (p.Phe2687=)
n.8311T=
c.8212T= (p.Phe2738=)
c.7117T= (p.Phe2373=)
c.3301T= (p.Phe1101=)
c.2854T= (p.Phe952=)
c.2191T= (p.Phe731=)
c.6706T= (p.Phe2236=)
n.8229T=
5g.13793635A>CCA359221389DNAH5c.8104T>G (p.Phe2702Val)
c.8059T>G (p.Phe2687Val)
n.8311T>G
c.8212T>G (p.Phe2738Val)
c.7117T>G (p.Phe2373Val)
c.3301T>G (p.Phe1101Val)
c.2854T>G (p.Phe952Val)
c.2191T>G (p.Phe731Val)
c.6706T>G (p.Phe2236Val)
n.8229T>G
5g.13793635A>GCA359221390DNAH5c.8104T>C (p.Phe2702Leu)
c.8059T>C (p.Phe2687Leu)
n.8311T>C
c.8212T>C (p.Phe2738Leu)
c.7117T>C (p.Phe2373Leu)
c.3301T>C (p.Phe1101Leu)
c.2854T>C (p.Phe952Leu)
c.2191T>C (p.Phe731Leu)
c.6706T>C (p.Phe2236Leu)
n.8229T>C
 dbSNP
5g.13793635A>TCA359221391DNAH5c.8104T>A (p.Phe2702Ile)
c.8059T>A (p.Phe2687Ile)
n.8311T>A
c.8212T>A (p.Phe2738Ile)
c.7117T>A (p.Phe2373Ile)
c.3301T>A (p.Phe1101Ile)
c.2854T>A (p.Phe952Ile)
c.2191T>A (p.Phe731Ile)
c.6706T>A (p.Phe2236Ile)
n.8229T>A
5g.13793636C>ACA359221392DNAH5c.8103G>T (p.Gln2701His)
c.8058G>T (p.Gln2686His)
n.8310G>T
c.8211G>T (p.Gln2737His)
c.7116G>T (p.Gln2372His)
c.3300G>T (p.Gln1100His)
c.2853G>T (p.Gln951His)
c.2190G>T (p.Gln730His)
c.6705G>T (p.Gln2235His)
n.8228G>T
5g.13793636C>GCA359221393DNAH5c.8103G>C (p.Gln2701His)
c.8058G>C (p.Gln2686His)
n.8310G>C
c.8211G>C (p.Gln2737His)
c.7116G>C (p.Gln2372His)
c.3300G>C (p.Gln1100His)
c.2853G>C (p.Gln951His)
c.2190G>C (p.Gln730His)
c.6705G>C (p.Gln2235His)
n.8228G>C
5g.13793636C>TCA443266285DNAH5c.8103G>A (p.Gln2701=)
c.8058G>A (p.Gln2686=)
n.8310G>A
c.8211G>A (p.Gln2737=)
c.7116G>A (p.Gln2372=)
c.3300G>A (p.Gln1100=)
c.2853G>A (p.Gln951=)
c.2190G>A (p.Gln730=)
c.6705G>A (p.Gln2235=)
n.8228G>A
5g.13793637T>ACA359221395DNAH5c.8102A>T (p.Gln2701Leu)
c.8057A>T (p.Gln2686Leu)
n.8309A>T
c.8210A>T (p.Gln2737Leu)
c.7115A>T (p.Gln2372Leu)
c.3299A>T (p.Gln1100Leu)
c.2852A>T (p.Gln951Leu)
c.2189A>T (p.Gln730Leu)
c.6704A>T (p.Gln2235Leu)
n.8227A>T
5g.13793637T>CCA113961868DNAH5c.8102A>G (p.Gln2701Arg)
c.8057A>G (p.Gln2686Arg)
n.8309A>G
c.8210A>G (p.Gln2737Arg)
c.7115A>G (p.Gln2372Arg)
c.3299A>G (p.Gln1100Arg)
c.2852A>G (p.Gln951Arg)
c.2189A>G (p.Gln730Arg)
c.6704A>G (p.Gln2235Arg)
n.8227A>G
 dbSNP gnomAD v4
5g.13793637T>GCA359221394DNAH5c.8102A>C (p.Gln2701Pro)
c.8057A>C (p.Gln2686Pro)
n.8309A>C
c.8210A>C (p.Gln2737Pro)
c.7115A>C (p.Gln2372Pro)
c.3299A>C (p.Gln1100Pro)
c.2852A>C (p.Gln951Pro)
c.2189A>C (p.Gln730Pro)
c.6704A>C (p.Gln2235Pro)
n.8227A>C
5g.13793637T=CA1528441678DNAH5c.8102A= (p.Gln2701=)
c.8057A= (p.Gln2686=)
n.8309A=
c.8210A= (p.Gln2737=)
c.7115A= (p.Gln2372=)
c.3299A= (p.Gln1100=)
c.2852A= (p.Gln951=)
c.2189A= (p.Gln730=)
c.6704A= (p.Gln2235=)
n.8227A=
5g.13793638G>ACA359221396DNAH5c.8101C>T (p.Gln2701Ter)
c.8056C>T (p.Gln2686Ter)
n.8308C>T
c.8209C>T (p.Gln2737Ter)
c.7114C>T (p.Gln2372Ter)
c.3298C>T (p.Gln1100Ter)
c.2851C>T (p.Gln951Ter)
c.2188C>T (p.Gln730Ter)
c.6703C>T (p.Gln2235Ter)
n.8226C>T
 gnomAD v4
5g.13793638G>CCA359221397DNAH5c.8101C>G (p.Gln2701Glu)
c.8056C>G (p.Gln2686Glu)
n.8308C>G
c.8209C>G (p.Gln2737Glu)
c.7114C>G (p.Gln2372Glu)
c.3298C>G (p.Gln1100Glu)
c.2851C>G (p.Gln951Glu)
c.2188C>G (p.Gln730Glu)
c.6703C>G (p.Gln2235Glu)
n.8226C>G
5g.13793638G>TCA359221398DNAH5c.8101C>A (p.Gln2701Lys)
c.8056C>A (p.Gln2686Lys)
n.8308C>A
c.8209C>A (p.Gln2737Lys)
c.7114C>A (p.Gln2372Lys)
c.3298C>A (p.Gln1100Lys)
c.2851C>A (p.Gln951Lys)
c.2188C>A (p.Gln730Lys)
c.6703C>A (p.Gln2235Lys)
n.8226C>A
5g.13793639G>ACA443266307DNAH5c.8100C>T (p.Ile2700=)
c.8055C>T (p.Ile2685=)
n.8307C>T
c.8208C>T (p.Ile2736=)
c.7113C>T (p.Ile2371=)
c.3297C>T (p.Ile1099=)
c.2850C>T (p.Ile950=)
c.2187C>T (p.Ile729=)
c.6702C>T (p.Ile2234=)
n.8225C>T
5g.13793639G>CCA359221399DNAH5c.8100C>G (p.Ile2700Met)
c.8055C>G (p.Ile2685Met)
n.8307C>G
c.8208C>G (p.Ile2736Met)
c.7113C>G (p.Ile2371Met)
c.3297C>G (p.Ile1099Met)
c.2850C>G (p.Ile950Met)
c.2187C>G (p.Ile729Met)
c.6702C>G (p.Ile2234Met)
n.8225C>G
5g.13793639G>TCA443266304DNAH5c.8100C>A (p.Ile2700=)
c.8055C>A (p.Ile2685=)
n.8307C>A
c.8208C>A (p.Ile2736=)
c.7113C>A (p.Ile2371=)
c.3297C>A (p.Ile1099=)
c.2850C>A (p.Ile950=)
c.2187C>A (p.Ile729=)
c.6702C>A (p.Ile2234=)
n.8225C>A
5g.13793640A=CA1528441679DNAH5c.8099T= (p.Ile2700=)
c.8054T= (p.Ile2685=)
n.8306T=
c.8207T= (p.Ile2736=)
c.7112T= (p.Ile2371=)
c.3296T= (p.Ile1099=)
c.2849T= (p.Ile950=)
c.2186T= (p.Ile729=)
c.6701T= (p.Ile2234=)
n.8224T=
5g.13793640A>CCA359221400DNAH5c.8099T>G (p.Ile2700Ser)
c.8054T>G (p.Ile2685Ser)
n.8306T>G
c.8207T>G (p.Ile2736Ser)
c.7112T>G (p.Ile2371Ser)
c.3296T>G (p.Ile1099Ser)
c.2849T>G (p.Ile950Ser)
c.2186T>G (p.Ile729Ser)
c.6701T>G (p.Ile2234Ser)
n.8224T>G
5g.13793640A>GCA3202898DNAH5c.8099T>C (p.Ile2700Thr)
c.8054T>C (p.Ile2685Thr)
n.8306T>C
c.8207T>C (p.Ile2736Thr)
c.7112T>C (p.Ile2371Thr)
c.3296T>C (p.Ile1099Thr)
c.2849T>C (p.Ile950Thr)
c.2186T>C (p.Ile729Thr)
c.6701T>C (p.Ile2234Thr)
n.8224T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13793640A>TCA359221401DNAH5c.8099T>A (p.Ile2700Asn)
c.8054T>A (p.Ile2685Asn)
n.8306T>A
c.8207T>A (p.Ile2736Asn)
c.7112T>A (p.Ile2371Asn)
c.3296T>A (p.Ile1099Asn)
c.2849T>A (p.Ile950Asn)
c.2186T>A (p.Ile729Asn)
c.6701T>A (p.Ile2234Asn)
n.8224T>A
5g.13793641T>ACA359221402DNAH5c.8098A>T (p.Ile2700Phe)
c.8053A>T (p.Ile2685Phe)
n.8305A>T
c.8206A>T (p.Ile2736Phe)
c.7111A>T (p.Ile2371Phe)
c.3295A>T (p.Ile1099Phe)
c.2848A>T (p.Ile950Phe)
c.2185A>T (p.Ile729Phe)
c.6700A>T (p.Ile2234Phe)
n.8223A>T
5g.13793641T>CCA359221403DNAH5c.8098A>G (p.Ile2700Val)
c.8053A>G (p.Ile2685Val)
n.8305A>G
c.8206A>G (p.Ile2736Val)
c.7111A>G (p.Ile2371Val)
c.3295A>G (p.Ile1099Val)
c.2848A>G (p.Ile950Val)
c.2185A>G (p.Ile729Val)
c.6700A>G (p.Ile2234Val)
n.8223A>G
5g.13793641T>GCA359221404DNAH5c.8098A>C (p.Ile2700Leu)
c.8053A>C (p.Ile2685Leu)
n.8305A>C
c.8206A>C (p.Ile2736Leu)
c.7111A>C (p.Ile2371Leu)
c.3295A>C (p.Ile1099Leu)
c.2848A>C (p.Ile950Leu)
c.2185A>C (p.Ile729Leu)
c.6700A>C (p.Ile2234Leu)
n.8223A>C
 gnomAD v4
5g.13793641_13793647delinsTGTCCACCA1528441680DNAH5c.8092_8098delinsGTGGACA (p.Val2698=)
c.8047_8053delinsGTGGACA (p.Val2683=)
n.8299_8305delinsGTGGACA
c.8200_8206delinsGTGGACA (p.Val2734=)
c.7105_7111delinsGTGGACA (p.Val2369=)
c.3289_3295delinsGTGGACA (p.Val1097=)
c.2842_2848delinsGTGGACA (p.Val948=)
c.2179_2185delinsGTGGACA (p.Val727=)
c.6694_6700delinsGTGGACA (p.Val2232=)
n.8217_8223delinsGTGGACA
5g.13793642G>ACA443266320DNAH5c.8097C>T (p.Asp2699=)
c.8052C>T (p.Asp2684=)
n.8304C>T
c.8205C>T (p.Asp2735=)
c.7110C>T (p.Asp2370=)
c.3294C>T (p.Asp1098=)
c.2847C>T (p.Asp949=)
c.2184C>T (p.Asp728=)
c.6699C>T (p.Asp2233=)
n.8222C>T
 ClinVar
5g.13793642G>CCA359221405DNAH5c.8097C>G (p.Asp2699Glu)
c.8052C>G (p.Asp2684Glu)
n.8304C>G
c.8205C>G (p.Asp2735Glu)
c.7110C>G (p.Asp2370Glu)
c.3294C>G (p.Asp1098Glu)
c.2847C>G (p.Asp949Glu)
c.2184C>G (p.Asp728Glu)
c.6699C>G (p.Asp2233Glu)
n.8222C>G
5g.13793642G>TCA359221406DNAH5c.8097C>A (p.Asp2699Glu)
c.8052C>A (p.Asp2684Glu)
n.8304C>A
c.8205C>A (p.Asp2735Glu)
c.7110C>A (p.Asp2370Glu)
c.3294C>A (p.Asp1098Glu)
c.2847C>A (p.Asp949Glu)
c.2184C>A (p.Asp728Glu)
c.6699C>A (p.Asp2233Glu)
n.8222C>A
5g.13793643_13793648delCA1528441681DNAH5c.8092_8097del (p.Val2698_Asp2699del)
c.8047_8052del (p.Val2683_Asp2684del)
n.8299_8304del
c.8200_8205del (p.Val2734_Asp2735del)
c.7105_7110del (p.Val2369_Asp2370del)
c.3289_3294del (p.Val1097_Asp1098del)
c.2842_2847del (p.Val948_Asp949del)
c.2179_2184del (p.Val727_Asp728del)
c.6694_6699del (p.Val2232_Asp2233del)
n.8217_8222del
 ClinVar dbSNP gnomAD v4
5g.13793643T>ACA359221407DNAH5c.8096A>T (p.Asp2699Val)
c.8051A>T (p.Asp2684Val)
n.8303A>T
c.8204A>T (p.Asp2735Val)
c.7109A>T (p.Asp2370Val)
c.3293A>T (p.Asp1098Val)
c.2846A>T (p.Asp949Val)
c.2183A>T (p.Asp728Val)
c.6698A>T (p.Asp2233Val)
n.8221A>T
5g.13793643T>CCA359221409DNAH5c.8096A>G (p.Asp2699Gly)
c.8051A>G (p.Asp2684Gly)
n.8303A>G
c.8204A>G (p.Asp2735Gly)
c.7109A>G (p.Asp2370Gly)
c.3293A>G (p.Asp1098Gly)
c.2846A>G (p.Asp949Gly)
c.2183A>G (p.Asp728Gly)
c.6698A>G (p.Asp2233Gly)
n.8221A>G
5g.13793643T>GCA359221408DNAH5c.8096A>C (p.Asp2699Ala)
c.8051A>C (p.Asp2684Ala)
n.8303A>C
c.8204A>C (p.Asp2735Ala)
c.7109A>C (p.Asp2370Ala)
c.3293A>C (p.Asp1098Ala)
c.2846A>C (p.Asp949Ala)
c.2183A>C (p.Asp728Ala)
c.6698A>C (p.Asp2233Ala)
n.8221A>C
5g.13793644C>ACA113961877DNAH5c.8095G>T (p.Asp2699Tyr)
c.8050G>T (p.Asp2684Tyr)
n.8302G>T
c.8203G>T (p.Asp2735Tyr)
c.7108G>T (p.Asp2370Tyr)
c.3292G>T (p.Asp1098Tyr)
c.2845G>T (p.Asp949Tyr)
c.2182G>T (p.Asp728Tyr)
c.6697G>T (p.Asp2233Tyr)
n.8220G>T
 dbSNP
5g.13793644C=CA1528441682DNAH5c.8095G= (p.Asp2699=)
c.8050G= (p.Asp2684=)
n.8302G=
c.8203G= (p.Asp2735=)
c.7108G= (p.Asp2370=)
c.3292G= (p.Asp1098=)
c.2845G= (p.Asp949=)
c.2182G= (p.Asp728=)
c.6697G= (p.Asp2233=)
n.8220G=
5g.13793644C>GCA359221410DNAH5c.8095G>C (p.Asp2699His)
c.8050G>C (p.Asp2684His)
n.8302G>C
c.8203G>C (p.Asp2735His)
c.7108G>C (p.Asp2370His)
c.3292G>C (p.Asp1098His)
c.2845G>C (p.Asp949His)
c.2182G>C (p.Asp728His)
c.6697G>C (p.Asp2233His)
n.8220G>C
5g.13793644C>TCA359221411DNAH5c.8095G>A (p.Asp2699Asn)
c.8050G>A (p.Asp2684Asn)
n.8302G>A
c.8203G>A (p.Asp2735Asn)
c.7108G>A (p.Asp2370Asn)
c.3292G>A (p.Asp1098Asn)
c.2845G>A (p.Asp949Asn)
c.2182G>A (p.Asp728Asn)
c.6697G>A (p.Asp2233Asn)
n.8220G>A
 COSMIC
5g.13793644_13793646delinsCCACA1528441683DNAH5c.8093_8095delinsTGG (p.Val2698=)
c.8048_8050delinsTGG (p.Val2683=)
n.8300_8302delinsTGG
c.8201_8203delinsTGG (p.Val2734=)
c.7106_7108delinsTGG (p.Val2369=)
c.3290_3292delinsTGG (p.Val1097=)
c.2843_2845delinsTGG (p.Val948=)
c.2180_2182delinsTGG (p.Val727=)
c.6695_6697delinsTGG (p.Val2232=)
n.8218_8220delinsTGG
5g.13793645C>ACA443266340DNAH5c.8094G>T (p.Val2698=)
c.8049G>T (p.Val2683=)
n.8301G>T
c.8202G>T (p.Val2734=)
c.7107G>T (p.Val2369=)
c.3291G>T (p.Val1097=)
c.2844G>T (p.Val948=)
c.2181G>T (p.Val727=)
c.6696G>T (p.Val2232=)
n.8219G>T
5g.13793645C=CA1528441684DNAH5c.8094G= (p.Val2698=)
c.8049G= (p.Val2683=)
n.8301G=
c.8202G= (p.Val2734=)
c.7107G= (p.Val2369=)
c.3291G= (p.Val1097=)
c.2844G= (p.Val948=)
c.2181G= (p.Val727=)
c.6696G= (p.Val2232=)
n.8219G=
5g.13793645C>GCA443266341DNAH5c.8094G>C (p.Val2698=)
c.8049G>C (p.Val2683=)
n.8301G>C
c.8202G>C (p.Val2734=)
c.7107G>C (p.Val2369=)
c.3291G>C (p.Val1097=)
c.2844G>C (p.Val948=)
c.2181G>C (p.Val727=)
c.6696G>C (p.Val2232=)
n.8219G>C
 ClinVar dbSNP COSMIC
5g.13793645C>TCA443266344DNAH5c.8094G>A (p.Val2698=)
c.8049G>A (p.Val2683=)
n.8301G>A
c.8202G>A (p.Val2734=)
c.7107G>A (p.Val2369=)
c.3291G>A (p.Val1097=)
c.2844G>A (p.Val948=)
c.2181G>A (p.Val727=)
c.6696G>A (p.Val2232=)
n.8219G>A
5g.13793646_13793647delCA1528441685DNAH5c.8093_8094del (p.Val2698GlyfsTer17)
c.8048_8049del (p.Val2683GlyfsTer17)
n.8300_8301del
c.8201_8202del (p.Val2734GlyfsTer17)
c.7106_7107del (p.Val2369GlyfsTer17)
c.3290_3291del (p.Val1097GlyfsTer17)
c.2843_2844del (p.Val948GlyfsTer17)
c.2180_2181del (p.Val727GlyfsTer17)
c.6695_6696del (p.Val2232GlyfsTer17)
n.8218_8219del
 dbSNP
5g.13793646A>CCA359221412DNAH5c.8093T>G (p.Val2698Gly)
c.8048T>G (p.Val2683Gly)
n.8300T>G
c.8201T>G (p.Val2734Gly)
c.7106T>G (p.Val2369Gly)
c.3290T>G (p.Val1097Gly)
c.2843T>G (p.Val948Gly)
c.2180T>G (p.Val727Gly)
c.6695T>G (p.Val2232Gly)
n.8218T>G
5g.13793646A>GCA359221413DNAH5c.8093T>C (p.Val2698Ala)
c.8048T>C (p.Val2683Ala)
n.8300T>C
c.8201T>C (p.Val2734Ala)
c.7106T>C (p.Val2369Ala)
c.3290T>C (p.Val1097Ala)
c.2843T>C (p.Val948Ala)
c.2180T>C (p.Val727Ala)
c.6695T>C (p.Val2232Ala)
n.8218T>C
5g.13793646A>TCA359221414DNAH5c.8093T>A (p.Val2698Glu)
c.8048T>A (p.Val2683Glu)
n.8300T>A
c.8201T>A (p.Val2734Glu)
c.7106T>A (p.Val2369Glu)
c.3290T>A (p.Val1097Glu)
c.2843T>A (p.Val948Glu)
c.2180T>A (p.Val727Glu)
c.6695T>A (p.Val2232Glu)
n.8218T>A
5g.13793647C>ACA359221415DNAH5c.8092G>T (p.Val2698Leu)
c.8047G>T (p.Val2683Leu)
n.8299G>T
c.8200G>T (p.Val2734Leu)
c.7105G>T (p.Val2369Leu)
c.3289G>T (p.Val1097Leu)
c.2842G>T (p.Val948Leu)
c.2179G>T (p.Val727Leu)
c.6694G>T (p.Val2232Leu)
n.8217G>T
 dbSNP gnomAD v4
5g.13793647C=CA1528441686DNAH5c.8092G= (p.Val2698=)
c.8047G= (p.Val2683=)
n.8299G=
c.8200G= (p.Val2734=)
c.7105G= (p.Val2369=)
c.3289G= (p.Val1097=)
c.2842G= (p.Val948=)
c.2179G= (p.Val727=)
c.6694G= (p.Val2232=)
n.8217G=
5g.13793647C>GCA359221416DNAH5c.8092G>C (p.Val2698Leu)
c.8047G>C (p.Val2683Leu)
n.8299G>C
c.8200G>C (p.Val2734Leu)
c.7105G>C (p.Val2369Leu)
c.3289G>C (p.Val1097Leu)
c.2842G>C (p.Val948Leu)
c.2179G>C (p.Val727Leu)
c.6694G>C (p.Val2232Leu)
n.8217G>C
5g.13793647C>TCA3202899DNAH5c.8092G>A (p.Val2698Met)
c.8047G>A (p.Val2683Met)
n.8299G>A
c.8200G>A (p.Val2734Met)
c.7105G>A (p.Val2369Met)
c.3289G>A (p.Val1097Met)
c.2842G>A (p.Val948Met)
c.2179G>A (p.Val727Met)
c.6694G>A (p.Val2232Met)
n.8217G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13793648G>ACA3202900DNAH5c.8091C>T (p.Ile2697=)
c.8046C>T (p.Ile2682=)
n.8298C>T
c.8199C>T (p.Ile2733=)
c.7104C>T (p.Ile2368=)
c.3288C>T (p.Ile1096=)
c.2841C>T (p.Ile947=)
c.2178C>T (p.Ile726=)
c.6693C>T (p.Ile2231=)
n.8216C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13793648G>CCA359221417DNAH5c.8091C>G (p.Ile2697Met)
c.8046C>G (p.Ile2682Met)
n.8298C>G
c.8199C>G (p.Ile2733Met)
c.7104C>G (p.Ile2368Met)
c.3288C>G (p.Ile1096Met)
c.2841C>G (p.Ile947Met)
c.2178C>G (p.Ile726Met)
c.6693C>G (p.Ile2231Met)
n.8216C>G
5g.13793648G=CA1528441687DNAH5c.8091C= (p.Ile2697=)
c.8046C= (p.Ile2682=)
n.8298C=
c.8199C= (p.Ile2733=)
c.7104C= (p.Ile2368=)
c.3288C= (p.Ile1096=)
c.2841C= (p.Ile947=)
c.2178C= (p.Ile726=)
c.6693C= (p.Ile2231=)
n.8216C=
5g.13793648G>TCA443266361DNAH5c.8091C>A (p.Ile2697=)
c.8046C>A (p.Ile2682=)
n.8298C>A
c.8199C>A (p.Ile2733=)
c.7104C>A (p.Ile2368=)
c.3288C>A (p.Ile1096=)
c.2841C>A (p.Ile947=)
c.2178C>A (p.Ile726=)
c.6693C>A (p.Ile2231=)
n.8216C>A
5g.13793649A>CCA359221420DNAH5c.8090T>G (p.Ile2697Ser)
c.8045T>G (p.Ile2682Ser)
n.8297T>G
c.8198T>G (p.Ile2733Ser)
c.7103T>G (p.Ile2368Ser)
c.3287T>G (p.Ile1096Ser)
c.2840T>G (p.Ile947Ser)
c.2177T>G (p.Ile726Ser)
c.6692T>G (p.Ile2231Ser)
n.8215T>G
5g.13793649A>GCA359221419DNAH5c.8090T>C (p.Ile2697Thr)
c.8045T>C (p.Ile2682Thr)
n.8297T>C
c.8198T>C (p.Ile2733Thr)
c.7103T>C (p.Ile2368Thr)
c.3287T>C (p.Ile1096Thr)
c.2840T>C (p.Ile947Thr)
c.2177T>C (p.Ile726Thr)
c.6692T>C (p.Ile2231Thr)
n.8215T>C
5g.13793649A>TCA359221418DNAH5c.8090T>A (p.Ile2697Asn)
c.8045T>A (p.Ile2682Asn)
n.8297T>A
c.8198T>A (p.Ile2733Asn)
c.7103T>A (p.Ile2368Asn)
c.3287T>A (p.Ile1096Asn)
c.2840T>A (p.Ile947Asn)
c.2177T>A (p.Ile726Asn)
c.6692T>A (p.Ile2231Asn)
n.8215T>A
5g.13793650T>ACA359221421DNAH5c.8089A>T (p.Ile2697Phe)
c.8044A>T (p.Ile2682Phe)
n.8296A>T
c.8197A>T (p.Ile2733Phe)
c.7102A>T (p.Ile2368Phe)
c.3286A>T (p.Ile1096Phe)
c.2839A>T (p.Ile947Phe)
c.2176A>T (p.Ile726Phe)
c.6691A>T (p.Ile2231Phe)
n.8214A>T
5g.13793650T>CCA359221422DNAH5c.8089A>G (p.Ile2697Val)
c.8044A>G (p.Ile2682Val)
n.8296A>G
c.8197A>G (p.Ile2733Val)
c.7102A>G (p.Ile2368Val)
c.3286A>G (p.Ile1096Val)
c.2839A>G (p.Ile947Val)
c.2176A>G (p.Ile726Val)
c.6691A>G (p.Ile2231Val)
n.8214A>G
 dbSNP gnomAD v2 gnomAD v4
5g.13793650T>GCA359221423DNAH5c.8089A>C (p.Ile2697Leu)
c.8044A>C (p.Ile2682Leu)
n.8296A>C
c.8197A>C (p.Ile2733Leu)
c.7102A>C (p.Ile2368Leu)
c.3286A>C (p.Ile1096Leu)
c.2839A>C (p.Ile947Leu)
c.2176A>C (p.Ile726Leu)
c.6691A>C (p.Ile2231Leu)
n.8214A>C
5g.13793650T=CA1528441688DNAH5c.8089A= (p.Ile2697=)
c.8044A= (p.Ile2682=)
n.8296A=
c.8197A= (p.Ile2733=)
c.7102A= (p.Ile2368=)
c.3286A= (p.Ile1096=)
c.2839A= (p.Ile947=)
c.2176A= (p.Ile726=)
c.6691A= (p.Ile2231=)
n.8214A=
5g.13793651G>ACA443266375DNAH5c.8088C>T (p.Ser2696=)
c.8043C>T (p.Ser2681=)
n.8295C>T
c.8196C>T (p.Ser2732=)
c.7101C>T (p.Ser2367=)
c.3285C>T (p.Ser1095=)
c.2838C>T (p.Ser946=)
c.2175C>T (p.Ser725=)
c.6690C>T (p.Ser2230=)
n.8213C>T
5g.13793651G>CCA359221424DNAH5c.8088C>G (p.Ser2696Arg)
c.8043C>G (p.Ser2681Arg)
n.8295C>G
c.8196C>G (p.Ser2732Arg)
c.7101C>G (p.Ser2367Arg)
c.3285C>G (p.Ser1095Arg)
c.2838C>G (p.Ser946Arg)
c.2175C>G (p.Ser725Arg)
c.6690C>G (p.Ser2230Arg)
n.8213C>G
5g.13793651G>TCA359221425DNAH5c.8088C>A (p.Ser2696Arg)
c.8043C>A (p.Ser2681Arg)
n.8295C>A
c.8196C>A (p.Ser2732Arg)
c.7101C>A (p.Ser2367Arg)
c.3285C>A (p.Ser1095Arg)
c.2838C>A (p.Ser946Arg)
c.2175C>A (p.Ser725Arg)
c.6690C>A (p.Ser2230Arg)
n.8213C>A
5g.13793652C>ACA359221426DNAH5c.8087G>T (p.Ser2696Ile)
c.8042G>T (p.Ser2681Ile)
n.8294G>T
c.8195G>T (p.Ser2732Ile)
c.7100G>T (p.Ser2367Ile)
c.3284G>T (p.Ser1095Ile)
c.2837G>T (p.Ser946Ile)
c.2174G>T (p.Ser725Ile)
c.6689G>T (p.Ser2230Ile)
n.8212G>T
5g.13793652C>GCA359221427DNAH5c.8087G>C (p.Ser2696Thr)
c.8042G>C (p.Ser2681Thr)
n.8294G>C
c.8195G>C (p.Ser2732Thr)
c.7100G>C (p.Ser2367Thr)
c.3284G>C (p.Ser1095Thr)
c.2837G>C (p.Ser946Thr)
c.2174G>C (p.Ser725Thr)
c.6689G>C (p.Ser2230Thr)
n.8212G>C
 gnomAD v4
5g.13793652C>TCA359221428DNAH5c.8087G>A (p.Ser2696Asn)
c.8042G>A (p.Ser2681Asn)
n.8294G>A
c.8195G>A (p.Ser2732Asn)
c.7100G>A (p.Ser2367Asn)
c.3284G>A (p.Ser1095Asn)
c.2837G>A (p.Ser946Asn)
c.2174G>A (p.Ser725Asn)
c.6689G>A (p.Ser2230Asn)
n.8212G>A
5g.13793653T>ACA359221429DNAH5c.8086A>T (p.Ser2696Cys)
c.8041A>T (p.Ser2681Cys)
n.8293A>T
c.8194A>T (p.Ser2732Cys)
c.7099A>T (p.Ser2367Cys)
c.3283A>T (p.Ser1095Cys)
c.2836A>T (p.Ser946Cys)
c.2173A>T (p.Ser725Cys)
c.6688A>T (p.Ser2230Cys)
n.8211A>T
5g.13793653T>CCA3202901DNAH5c.8086A>G (p.Ser2696Gly)
c.8041A>G (p.Ser2681Gly)
n.8293A>G
c.8194A>G (p.Ser2732Gly)
c.7099A>G (p.Ser2367Gly)
c.3283A>G (p.Ser1095Gly)
c.2836A>G (p.Ser946Gly)
c.2173A>G (p.Ser725Gly)
c.6688A>G (p.Ser2230Gly)
n.8211A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13793653T>GCA359221430DNAH5c.8086A>C (p.Ser2696Arg)
c.8041A>C (p.Ser2681Arg)
n.8293A>C
c.8194A>C (p.Ser2732Arg)
c.7099A>C (p.Ser2367Arg)
c.3283A>C (p.Ser1095Arg)
c.2836A>C (p.Ser946Arg)
c.2173A>C (p.Ser725Arg)
c.6688A>C (p.Ser2230Arg)
n.8211A>C
5g.13793653T=CA1528441689DNAH5c.8086A= (p.Ser2696=)
c.8041A= (p.Ser2681=)
n.8293A=
c.8194A= (p.Ser2732=)
c.7099A= (p.Ser2367=)
c.3283A= (p.Ser1095=)
c.2836A= (p.Ser946=)
c.2173A= (p.Ser725=)
c.6688A= (p.Ser2230=)
n.8211A=
5g.13793654G>ACA443266407DNAH5c.8085C>T (p.Thr2695=)
c.8040C>T (p.Thr2680=)
n.8292C>T
c.8193C>T (p.Thr2731=)
c.7098C>T (p.Thr2366=)
c.3282C>T (p.Thr1094=)
c.2835C>T (p.Thr945=)
c.2172C>T (p.Thr724=)
c.6687C>T (p.Thr2229=)
n.8210C>T
 dbSNP
5g.13793654G>CCA3202902DNAH5c.8085C>G (p.Thr2695=)
c.8040C>G (p.Thr2680=)
n.8292C>G
c.8193C>G (p.Thr2731=)
c.7098C>G (p.Thr2366=)
c.3282C>G (p.Thr1094=)
c.2835C>G (p.Thr945=)
c.2172C>G (p.Thr724=)
c.6687C>G (p.Thr2229=)
n.8210C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13793654G=CA1528441690DNAH5c.8085C= (p.Thr2695=)
c.8040C= (p.Thr2680=)
n.8292C=
c.8193C= (p.Thr2731=)
c.7098C= (p.Thr2366=)
c.3282C= (p.Thr1094=)
c.2835C= (p.Thr945=)
c.2172C= (p.Thr724=)
c.6687C= (p.Thr2229=)
n.8210C=
5g.13793654G>TCA443266408DNAH5c.8085C>A (p.Thr2695=)
c.8040C>A (p.Thr2680=)
n.8292C>A
c.8193C>A (p.Thr2731=)
c.7098C>A (p.Thr2366=)
c.3282C>A (p.Thr1094=)
c.2835C>A (p.Thr945=)
c.2172C>A (p.Thr724=)
c.6687C>A (p.Thr2229=)
n.8210C>A
 gnomAD v4
5g.13793655G>ACA359221432DNAH5c.8084C>T (p.Thr2695Ile)
c.8039C>T (p.Thr2680Ile)
n.8291C>T
c.8192C>T (p.Thr2731Ile)
c.7097C>T (p.Thr2366Ile)
c.3281C>T (p.Thr1094Ile)
c.2834C>T (p.Thr945Ile)
c.2171C>T (p.Thr724Ile)
c.6686C>T (p.Thr2229Ile)
n.8209C>T
 gnomAD v4
5g.13793655G>CCA359221433DNAH5c.8084C>G (p.Thr2695Ser)
c.8039C>G (p.Thr2680Ser)
n.8291C>G
c.8192C>G (p.Thr2731Ser)
c.7097C>G (p.Thr2366Ser)
c.3281C>G (p.Thr1094Ser)
c.2834C>G (p.Thr945Ser)
c.2171C>G (p.Thr724Ser)
c.6686C>G (p.Thr2229Ser)
n.8209C>G
5g.13793655G>TCA359221431DNAH5c.8084C>A (p.Thr2695Asn)
c.8039C>A (p.Thr2680Asn)
n.8291C>A
c.8192C>A (p.Thr2731Asn)
c.7097C>A (p.Thr2366Asn)
c.3281C>A (p.Thr1094Asn)
c.2834C>A (p.Thr945Asn)
c.2171C>A (p.Thr724Asn)
c.6686C>A (p.Thr2229Asn)
n.8209C>A
 gnomAD v4
5g.13793656T>ACA359221434DNAH5c.8083A>T (p.Thr2695Ser)
c.8038A>T (p.Thr2680Ser)
n.8290A>T
c.8191A>T (p.Thr2731Ser)
c.7096A>T (p.Thr2366Ser)
c.3280A>T (p.Thr1094Ser)
c.2833A>T (p.Thr945Ser)
c.2170A>T (p.Thr724Ser)
c.6685A>T (p.Thr2229Ser)
n.8208A>T
5g.13793656T>CCA359221435DNAH5c.8083A>G (p.Thr2695Ala)
c.8038A>G (p.Thr2680Ala)
n.8290A>G
c.8191A>G (p.Thr2731Ala)
c.7096A>G (p.Thr2366Ala)
c.3280A>G (p.Thr1094Ala)
c.2833A>G (p.Thr945Ala)
c.2170A>G (p.Thr724Ala)
c.6685A>G (p.Thr2229Ala)
n.8208A>G
 dbSNP gnomAD v4
5g.13793656T>GCA359221436DNAH5c.8083A>C (p.Thr2695Pro)
c.8038A>C (p.Thr2680Pro)
n.8290A>C
c.8191A>C (p.Thr2731Pro)
c.7096A>C (p.Thr2366Pro)
c.3280A>C (p.Thr1094Pro)
c.2833A>C (p.Thr945Pro)
c.2170A>C (p.Thr724Pro)
c.6685A>C (p.Thr2229Pro)
n.8208A>C
5g.13793656T=CA1528441691DNAH5c.8083A= (p.Thr2695=)
c.8038A= (p.Thr2680=)
n.8290A=
c.8191A= (p.Thr2731=)
c.7096A= (p.Thr2366=)
c.3280A= (p.Thr1094=)
c.2833A= (p.Thr945=)
c.2170A= (p.Thr724=)
c.6685A= (p.Thr2229=)
n.8208A=
5g.13793657G>ACA3202903DNAH5c.8082C>T (p.Phe2694=)
c.8037C>T (p.Phe2679=)
n.8289C>T
c.8190C>T (p.Phe2730=)
c.7095C>T (p.Phe2365=)
c.3279C>T (p.Phe1093=)
c.2832C>T (p.Phe944=)
c.2169C>T (p.Phe723=)
c.6684C>T (p.Phe2228=)
n.8207C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13793657G>CCA359221437DNAH5c.8082C>G (p.Phe2694Leu)
c.8037C>G (p.Phe2679Leu)
n.8289C>G
c.8190C>G (p.Phe2730Leu)
c.7095C>G (p.Phe2365Leu)
c.3279C>G (p.Phe1093Leu)
c.2832C>G (p.Phe944Leu)
c.2169C>G (p.Phe723Leu)
c.6684C>G (p.Phe2228Leu)
n.8207C>G
5g.13793657G=CA1528441692DNAH5c.8082C= (p.Phe2694=)
c.8037C= (p.Phe2679=)
n.8289C=
c.8190C= (p.Phe2730=)
c.7095C= (p.Phe2365=)
c.3279C= (p.Phe1093=)
c.2832C= (p.Phe944=)
c.2169C= (p.Phe723=)
c.6684C= (p.Phe2228=)
n.8207C=
5g.13793657G>TCA359221438DNAH5c.8082C>A (p.Phe2694Leu)
c.8037C>A (p.Phe2679Leu)
n.8289C>A
c.8190C>A (p.Phe2730Leu)
c.7095C>A (p.Phe2365Leu)
c.3279C>A (p.Phe1093Leu)
c.2832C>A (p.Phe944Leu)
c.2169C>A (p.Phe723Leu)
c.6684C>A (p.Phe2228Leu)
n.8207C>A
5g.13793658A>CCA359221441DNAH5c.8081T>G (p.Phe2694Cys)
c.8036T>G (p.Phe2679Cys)
n.8288T>G
c.8189T>G (p.Phe2730Cys)
c.7094T>G (p.Phe2365Cys)
c.3278T>G (p.Phe1093Cys)
c.2831T>G (p.Phe944Cys)
c.2168T>G (p.Phe723Cys)
c.6683T>G (p.Phe2228Cys)
n.8206T>G
5g.13793658A>GCA359221439DNAH5c.8081T>C (p.Phe2694Ser)
c.8036T>C (p.Phe2679Ser)
n.8288T>C
c.8189T>C (p.Phe2730Ser)
c.7094T>C (p.Phe2365Ser)
c.3278T>C (p.Phe1093Ser)
c.2831T>C (p.Phe944Ser)
c.2168T>C (p.Phe723Ser)
c.6683T>C (p.Phe2228Ser)
n.8206T>C
5g.13793658A>TCA359221440DNAH5c.8081T>A (p.Phe2694Tyr)
c.8036T>A (p.Phe2679Tyr)
n.8288T>A
c.8189T>A (p.Phe2730Tyr)
c.7094T>A (p.Phe2365Tyr)
c.3278T>A (p.Phe1093Tyr)
c.2831T>A (p.Phe944Tyr)
c.2168T>A (p.Phe723Tyr)
c.6683T>A (p.Phe2228Tyr)
n.8206T>A
5g.13793659A=CA1528441693DNAH5c.8080T= (p.Phe2694=)
c.8035T= (p.Phe2679=)
n.8287T=
c.8188T= (p.Phe2730=)
c.7093T= (p.Phe2365=)
c.3277T= (p.Phe1093=)
c.2830T= (p.Phe944=)
c.2167T= (p.Phe723=)
c.6682T= (p.Phe2228=)
n.8205T=
5g.13793659A>CCA359221442DNAH5c.8080T>G (p.Phe2694Val)
c.8035T>G (p.Phe2679Val)
n.8287T>G
c.8188T>G (p.Phe2730Val)
c.7093T>G (p.Phe2365Val)
c.3277T>G (p.Phe1093Val)
c.2830T>G (p.Phe944Val)
c.2167T>G (p.Phe723Val)
c.6682T>G (p.Phe2228Val)
n.8205T>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13793659A>GCA359221443DNAH5c.8080T>C (p.Phe2694Leu)
c.8035T>C (p.Phe2679Leu)
n.8287T>C
c.8188T>C (p.Phe2730Leu)
c.7093T>C (p.Phe2365Leu)
c.3277T>C (p.Phe1093Leu)
c.2830T>C (p.Phe944Leu)
c.2167T>C (p.Phe723Leu)
c.6682T>C (p.Phe2228Leu)
n.8205T>C
5g.13793659A>TCA359221444DNAH5c.8080T>A (p.Phe2694Ile)
c.8035T>A (p.Phe2679Ile)
n.8287T>A
c.8188T>A (p.Phe2730Ile)
c.7093T>A (p.Phe2365Ile)
c.3277T>A (p.Phe1093Ile)
c.2830T>A (p.Phe944Ile)
c.2167T>A (p.Phe723Ile)
c.6682T>A (p.Phe2228Ile)
n.8205T>A
5g.13793660C>ACA359221445DNAH5c.8079G>T (p.Glu2693Asp)
c.8034G>T (p.Glu2678Asp)
n.8286G>T
c.8187G>T (p.Glu2729Asp)
c.7092G>T (p.Glu2364Asp)
c.3276G>T (p.Glu1092Asp)
c.2829G>T (p.Glu943Asp)
c.2166G>T (p.Glu722Asp)
c.6681G>T (p.Glu2227Asp)
n.8204G>T
5g.13793660C>GCA359221446DNAH5c.8079G>C (p.Glu2693Asp)
c.8034G>C (p.Glu2678Asp)
n.8286G>C
c.8187G>C (p.Glu2729Asp)
c.7092G>C (p.Glu2364Asp)
c.3276G>C (p.Glu1092Asp)
c.2829G>C (p.Glu943Asp)
c.2166G>C (p.Glu722Asp)
c.6681G>C (p.Glu2227Asp)
n.8204G>C
5g.13793660C>TCA443266447DNAH5c.8079G>A (p.Glu2693=)
c.8034G>A (p.Glu2678=)
n.8286G>A
c.8187G>A (p.Glu2729=)
c.7092G>A (p.Glu2364=)
c.3276G>A (p.Glu1092=)
c.2829G>A (p.Glu943=)
c.2166G>A (p.Glu722=)
c.6681G>A (p.Glu2227=)
n.8204G>A
 gnomAD v4
5g.13793661T>ACA359221449DNAH5c.8078A>T (p.Glu2693Val)
c.8033A>T (p.Glu2678Val)
n.8285A>T
c.8186A>T (p.Glu2729Val)
c.7091A>T (p.Glu2364Val)
c.3275A>T (p.Glu1092Val)
c.2828A>T (p.Glu943Val)
c.2165A>T (p.Glu722Val)
c.6680A>T (p.Glu2227Val)
n.8203A>T
 gnomAD v4 COSMIC
5g.13793661T>CCA359221447DNAH5c.8078A>G (p.Glu2693Gly)
c.8033A>G (p.Glu2678Gly)
n.8285A>G
c.8186A>G (p.Glu2729Gly)
c.7091A>G (p.Glu2364Gly)
c.3275A>G (p.Glu1092Gly)
c.2828A>G (p.Glu943Gly)
c.2165A>G (p.Glu722Gly)
c.6680A>G (p.Glu2227Gly)
n.8203A>G
5g.13793661T>GCA359221448DNAH5c.8078A>C (p.Glu2693Ala)
c.8033A>C (p.Glu2678Ala)
n.8285A>C
c.8186A>C (p.Glu2729Ala)
c.7091A>C (p.Glu2364Ala)
c.3275A>C (p.Glu1092Ala)
c.2828A>C (p.Glu943Ala)
c.2165A>C (p.Glu722Ala)
c.6680A>C (p.Glu2227Ala)
n.8203A>C
5g.13793662C>ACA359221450DNAH5c.8077G>T (p.Glu2693Ter)
c.8032G>T (p.Glu2678Ter)
n.8284G>T
c.8185G>T (p.Glu2729Ter)
c.7090G>T (p.Glu2364Ter)
c.3274G>T (p.Glu1092Ter)
c.2827G>T (p.Glu943Ter)
c.2164G>T (p.Glu722Ter)
c.6679G>T (p.Glu2227Ter)
n.8202G>T
5g.13793662C=CA1528441694DNAH5c.8077G= (p.Glu2693=)
c.8032G= (p.Glu2678=)
n.8284G=
c.8185G= (p.Glu2729=)
c.7090G= (p.Glu2364=)
c.3274G= (p.Glu1092=)
c.2827G= (p.Glu943=)
c.2164G= (p.Glu722=)
c.6679G= (p.Glu2227=)
n.8202G=
5g.13793662C>GCA359221451DNAH5c.8077G>C (p.Glu2693Gln)
c.8032G>C (p.Glu2678Gln)
n.8284G>C
c.8185G>C (p.Glu2729Gln)
c.7090G>C (p.Glu2364Gln)
c.3274G>C (p.Glu1092Gln)
c.2827G>C (p.Glu943Gln)
c.2164G>C (p.Glu722Gln)
c.6679G>C (p.Glu2227Gln)
n.8202G>C
5g.13793662C>TCA359221452DNAH5c.8077G>A (p.Glu2693Lys)
c.8032G>A (p.Glu2678Lys)
n.8284G>A
c.8185G>A (p.Glu2729Lys)
c.7090G>A (p.Glu2364Lys)
c.3274G>A (p.Glu1092Lys)
c.2827G>A (p.Glu943Lys)
c.2164G>A (p.Glu722Lys)
c.6679G>A (p.Glu2227Lys)
n.8202G>A
 ClinVar dbSNP COSMIC
5g.13793663C>ACA443266463DNAH5c.8076G>T (p.Gly2692=)
c.8031G>T (p.Gly2677=)
n.8283G>T
c.8184G>T (p.Gly2728=)
c.7089G>T (p.Gly2363=)
c.3273G>T (p.Gly1091=)
c.2826G>T (p.Gly942=)
c.2163G>T (p.Gly721=)
c.6678G>T (p.Gly2226=)
n.8201G>T
5g.13793663C=CA1528441695DNAH5c.8076G= (p.Gly2692=)
c.8031G= (p.Gly2677=)
n.8283G=
c.8184G= (p.Gly2728=)
c.7089G= (p.Gly2363=)
c.3273G= (p.Gly1091=)
c.2826G= (p.Gly942=)
c.2163G= (p.Gly721=)
c.6678G= (p.Gly2226=)
n.8201G=
5g.13793663C>GCA443266460DNAH5c.8076G>C (p.Gly2692=)
c.8031G>C (p.Gly2677=)
n.8283G>C
c.8184G>C (p.Gly2728=)
c.7089G>C (p.Gly2363=)
c.3273G>C (p.Gly1091=)
c.2826G>C (p.Gly942=)
c.2163G>C (p.Gly721=)
c.6678G>C (p.Gly2226=)
n.8201G>C
5g.13793663C>TCA3202904DNAH5c.8076G>A (p.Gly2692=)
c.8031G>A (p.Gly2677=)
n.8283G>A
c.8184G>A (p.Gly2728=)
c.7089G>A (p.Gly2363=)
c.3273G>A (p.Gly1091=)
c.2826G>A (p.Gly942=)
c.2163G>A (p.Gly721=)
c.6678G>A (p.Gly2226=)
n.8201G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.13793664C>ACA359221453DNAH5c.8075G>T (p.Gly2692Val)
c.8030G>T (p.Gly2677Val)
n.8282G>T
c.8183G>T (p.Gly2728Val)
c.7088G>T (p.Gly2363Val)
c.3272G>T (p.Gly1091Val)
c.2825G>T (p.Gly942Val)
c.2162G>T (p.Gly721Val)
c.6677G>T (p.Gly2226Val)
n.8200G>T
 dbSNP gnomAD v2 gnomAD v4
5g.13793664C=CA1528441696DNAH5c.8075G= (p.Gly2692=)
c.8030G= (p.Gly2677=)
n.8282G=
c.8183G= (p.Gly2728=)
c.7088G= (p.Gly2363=)
c.3272G= (p.Gly1091=)
c.2825G= (p.Gly942=)
c.2162G= (p.Gly721=)
c.6677G= (p.Gly2226=)
n.8200G=
5g.13793664C>GCA359221454DNAH5c.8075G>C (p.Gly2692Ala)
c.8030G>C (p.Gly2677Ala)
n.8282G>C
c.8183G>C (p.Gly2728Ala)
c.7088G>C (p.Gly2363Ala)
c.3272G>C (p.Gly1091Ala)
c.2825G>C (p.Gly942Ala)
c.2162G>C (p.Gly721Ala)
c.6677G>C (p.Gly2226Ala)
n.8200G>C
5g.13793664C>TCA359221455DNAH5c.8075G>A (p.Gly2692Glu)
c.8030G>A (p.Gly2677Glu)
n.8282G>A
c.8183G>A (p.Gly2728Glu)
c.7088G>A (p.Gly2363Glu)
c.3272G>A (p.Gly1091Glu)
c.2825G>A (p.Gly942Glu)
c.2162G>A (p.Gly721Glu)
c.6677G>A (p.Gly2226Glu)
n.8200G>A
5g.13793665C>ACA359221456DNAH5c.8074G>T (p.Gly2692Trp)
c.8029G>T (p.Gly2677Trp)
n.8281G>T
c.8182G>T (p.Gly2728Trp)
c.7087G>T (p.Gly2363Trp)
c.3271G>T (p.Gly1091Trp)
c.2824G>T (p.Gly942Trp)
c.2161G>T (p.Gly721Trp)
c.6676G>T (p.Gly2226Trp)
n.8199G>T
 COSMIC
5g.13793665C>GCA359221457DNAH5c.8074G>C (p.Gly2692Arg)
c.8029G>C (p.Gly2677Arg)
n.8281G>C
c.8182G>C (p.Gly2728Arg)
c.7087G>C (p.Gly2363Arg)
c.3271G>C (p.Gly1091Arg)
c.2824G>C (p.Gly942Arg)
c.2161G>C (p.Gly721Arg)
c.6676G>C (p.Gly2226Arg)
n.8199G>C
5g.13793665C>TCA359221458DNAH5c.8074G>A (p.Gly2692Arg)
c.8029G>A (p.Gly2677Arg)
n.8281G>A
c.8182G>A (p.Gly2728Arg)
c.7087G>A (p.Gly2363Arg)
c.3271G>A (p.Gly1091Arg)
c.2824G>A (p.Gly942Arg)
c.2161G>A (p.Gly721Arg)
c.6676G>A (p.Gly2226Arg)
n.8199G>A
5g.13793666A=CA1528441697DNAH5c.8073T= (p.Pro2691=)
c.8028T= (p.Pro2676=)
n.8280T=
c.8181T= (p.Pro2727=)
c.7086T= (p.Pro2362=)
c.3270T= (p.Pro1090=)
c.2823T= (p.Pro941=)
c.2160T= (p.Pro720=)
c.6675T= (p.Pro2225=)
n.8198T=
5g.13793666A>CCA443266485DNAH5c.8073T>G (p.Pro2691=)
c.8028T>G (p.Pro2676=)
n.8280T>G
c.8181T>G (p.Pro2727=)
c.7086T>G (p.Pro2362=)
c.3270T>G (p.Pro1090=)
c.2823T>G (p.Pro941=)
c.2160T>G (p.Pro720=)
c.6675T>G (p.Pro2225=)
n.8198T>G
5g.13793666A>GCA443266486DNAH5c.8073T>C (p.Pro2691=)
c.8028T>C (p.Pro2676=)
n.8280T>C
c.8181T>C (p.Pro2727=)
c.7086T>C (p.Pro2362=)
c.3270T>C (p.Pro1090=)
c.2823T>C (p.Pro941=)
c.2160T>C (p.Pro720=)
c.6675T>C (p.Pro2225=)
n.8198T>C
 dbSNP
5g.13793666A>TCA443266487DNAH5c.8073T>A (p.Pro2691=)
c.8028T>A (p.Pro2676=)
n.8280T>A
c.8181T>A (p.Pro2727=)
c.7086T>A (p.Pro2362=)
c.3270T>A (p.Pro1090=)
c.2823T>A (p.Pro941=)
c.2160T>A (p.Pro720=)
c.6675T>A (p.Pro2225=)
n.8198T>A
5g.13793667G>ACA359221459DNAH5c.8072C>T (p.Pro2691Leu)
c.8027C>T (p.Pro2676Leu)
n.8279C>T
c.8180C>T (p.Pro2727Leu)
c.7085C>T (p.Pro2362Leu)
c.3269C>T (p.Pro1090Leu)
c.2822C>T (p.Pro941Leu)
c.2159C>T (p.Pro720Leu)
c.6674C>T (p.Pro2225Leu)
n.8197C>T
 ClinVar
5g.13793667G>CCA359221460DNAH5c.8072C>G (p.Pro2691Arg)
c.8027C>G (p.Pro2676Arg)
n.8279C>G
c.8180C>G (p.Pro2727Arg)
c.7085C>G (p.Pro2362Arg)
c.3269C>G (p.Pro1090Arg)
c.2822C>G (p.Pro941Arg)
c.2159C>G (p.Pro720Arg)
c.6674C>G (p.Pro2225Arg)
n.8197C>G
5g.13793667G>TCA359221461DNAH5c.8072C>A (p.Pro2691His)
c.8027C>A (p.Pro2676His)
n.8279C>A
c.8180C>A (p.Pro2727His)
c.7085C>A (p.Pro2362His)
c.3269C>A (p.Pro1090His)
c.2822C>A (p.Pro941His)
c.2159C>A (p.Pro720His)
c.6674C>A (p.Pro2225His)
n.8197C>A
5g.13793668G>ACA359221462DNAH5c.8071C>T (p.Pro2691Ser)
c.8026C>T (p.Pro2676Ser)
n.8278C>T
c.8179C>T (p.Pro2727Ser)
c.7084C>T (p.Pro2362Ser)
c.3268C>T (p.Pro1090Ser)
c.2821C>T (p.Pro941Ser)
c.2158C>T (p.Pro720Ser)
c.6673C>T (p.Pro2225Ser)
n.8196C>T
5g.13793668G>CCA3202905DNAH5c.8071C>G (p.Pro2691Ala)
c.8026C>G (p.Pro2676Ala)
n.8278C>G
c.8179C>G (p.Pro2727Ala)
c.7084C>G (p.Pro2362Ala)
c.3268C>G (p.Pro1090Ala)
c.2821C>G (p.Pro941Ala)
c.2158C>G (p.Pro720Ala)
c.6673C>G (p.Pro2225Ala)
n.8196C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13793668G=CA1528441698DNAH5c.8071C= (p.Pro2691=)
c.8026C= (p.Pro2676=)
n.8278C=
c.8179C= (p.Pro2727=)
c.7084C= (p.Pro2362=)
c.3268C= (p.Pro1090=)
c.2821C= (p.Pro941=)
c.2158C= (p.Pro720=)
c.6673C= (p.Pro2225=)
n.8196C=
5g.13793668G>TCA359221463DNAH5c.8071C>A (p.Pro2691Thr)
c.8026C>A (p.Pro2676Thr)
n.8278C>A
c.8179C>A (p.Pro2727Thr)
c.7084C>A (p.Pro2362Thr)
c.3268C>A (p.Pro1090Thr)
c.2821C>A (p.Pro941Thr)
c.2158C>A (p.Pro720Thr)
c.6673C>A (p.Pro2225Thr)
n.8196C>A
 dbSNP gnomAD v3 gnomAD v4
5g.13793669C>ACA359221464DNAH5c.8070G>T (p.Lys2690Asn)
c.8025G>T (p.Lys2675Asn)
n.8277G>T
c.8178G>T (p.Lys2726Asn)
c.7083G>T (p.Lys2361Asn)
c.3267G>T (p.Lys1089Asn)
c.2820G>T (p.Lys940Asn)
c.2157G>T (p.Lys719Asn)
c.6672G>T (p.Lys2224Asn)
n.8195G>T
5g.13793669C=CA1528441699DNAH5c.8070G= (p.Lys2690=)
c.8025G= (p.Lys2675=)
n.8277G=
c.8178G= (p.Lys2726=)
c.7083G= (p.Lys2361=)
c.3267G= (p.Lys1089=)
c.2820G= (p.Lys940=)
c.2157G= (p.Lys719=)
c.6672G= (p.Lys2224=)
n.8195G=
5g.13793669C>GCA359221465DNAH5c.8070G>C (p.Lys2690Asn)
c.8025G>C (p.Lys2675Asn)
n.8277G>C
c.8178G>C (p.Lys2726Asn)
c.7083G>C (p.Lys2361Asn)
c.3267G>C (p.Lys1089Asn)
c.2820G>C (p.Lys940Asn)
c.2157G>C (p.Lys719Asn)
c.6672G>C (p.Lys2224Asn)
n.8195G>C
5g.13793669C>TCA3202906DNAH5c.8070G>A (p.Lys2690=)
c.8025G>A (p.Lys2675=)
n.8277G>A
c.8178G>A (p.Lys2726=)
c.7083G>A (p.Lys2361=)
c.3267G>A (p.Lys1089=)
c.2820G>A (p.Lys940=)
c.2157G>A (p.Lys719=)
c.6672G>A (p.Lys2224=)
n.8195G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13793670T>ACA359221466DNAH5c.8069A>T (p.Lys2690Met)
c.8024A>T (p.Lys2675Met)
n.8276A>T
c.8177A>T (p.Lys2726Met)
c.7082A>T (p.Lys2361Met)
c.3266A>T (p.Lys1089Met)
c.2819A>T (p.Lys940Met)
c.2156A>T (p.Lys719Met)
c.6671A>T (p.Lys2224Met)
n.8194A>T
5g.13793670T>CCA359221467DNAH5c.8069A>G (p.Lys2690Arg)
c.8024A>G (p.Lys2675Arg)
n.8276A>G
c.8177A>G (p.Lys2726Arg)
c.7082A>G (p.Lys2361Arg)
c.3266A>G (p.Lys1089Arg)
c.2819A>G (p.Lys940Arg)
c.2156A>G (p.Lys719Arg)
c.6671A>G (p.Lys2224Arg)
n.8194A>G
 gnomAD v4
5g.13793670T>GCA359221468DNAH5c.8069A>C (p.Lys2690Thr)
c.8024A>C (p.Lys2675Thr)
n.8276A>C
c.8177A>C (p.Lys2726Thr)
c.7082A>C (p.Lys2361Thr)
c.3266A>C (p.Lys1089Thr)
c.2819A>C (p.Lys940Thr)
c.2156A>C (p.Lys719Thr)
c.6671A>C (p.Lys2224Thr)
n.8194A>C
5g.13793671T>ACA359221471DNAH5c.8068A>T (p.Lys2690Ter)
c.8023A>T (p.Lys2675Ter)
n.8275A>T
c.8176A>T (p.Lys2726Ter)
c.7081A>T (p.Lys2361Ter)
c.3265A>T (p.Lys1089Ter)
c.2818A>T (p.Lys940Ter)
c.2155A>T (p.Lys719Ter)
c.6670A>T (p.Lys2224Ter)
n.8193A>T
 ClinVar
5g.13793671T>CCA359221469DNAH5c.8068A>G (p.Lys2690Glu)
c.8023A>G (p.Lys2675Glu)
n.8275A>G
c.8176A>G (p.Lys2726Glu)
c.7081A>G (p.Lys2361Glu)
c.3265A>G (p.Lys1089Glu)
c.2818A>G (p.Lys940Glu)
c.2155A>G (p.Lys719Glu)
c.6670A>G (p.Lys2224Glu)
n.8193A>G
5g.13793671T>GCA359221470DNAH5c.8068A>C (p.Lys2690Gln)
c.8023A>C (p.Lys2675Gln)
n.8275A>C
c.8176A>C (p.Lys2726Gln)
c.7081A>C (p.Lys2361Gln)
c.3265A>C (p.Lys1089Gln)
c.2818A>C (p.Lys940Gln)
c.2155A>C (p.Lys719Gln)
c.6670A>C (p.Lys2224Gln)
n.8193A>C
5g.13793672C>ACA359221472DNAH5c.8067G>T (p.Glu2689Asp)
c.8022G>T (p.Glu2674Asp)
n.8274G>T
c.8175G>T (p.Glu2725Asp)
c.7080G>T (p.Glu2360Asp)
c.3264G>T (p.Glu1088Asp)
c.2817G>T (p.Glu939Asp)
c.2154G>T (p.Glu718Asp)
c.6669G>T (p.Glu2223Asp)
n.8192G>T
 COSMIC
5g.13793672C=CA1528441700DNAH5c.8067G= (p.Glu2689=)
c.8022G= (p.Glu2674=)
n.8274G=
c.8175G= (p.Glu2725=)
c.7080G= (p.Glu2360=)
c.3264G= (p.Glu1088=)
c.2817G= (p.Glu939=)
c.2154G= (p.Glu718=)
c.6669G= (p.Glu2223=)
n.8192G=
5g.13793672C>GCA359221473DNAH5c.8067G>C (p.Glu2689Asp)
c.8022G>C (p.Glu2674Asp)
n.8274G>C
c.8175G>C (p.Glu2725Asp)
c.7080G>C (p.Glu2360Asp)
c.3264G>C (p.Glu1088Asp)
c.2817G>C (p.Glu939Asp)
c.2154G>C (p.Glu718Asp)
c.6669G>C (p.Glu2223Asp)
n.8192G>C
5g.13793672C>TCA443266515DNAH5c.8067G>A (p.Glu2689=)
c.8022G>A (p.Glu2674=)
n.8274G>A
c.8175G>A (p.Glu2725=)
c.7080G>A (p.Glu2360=)
c.3264G>A (p.Glu1088=)
c.2817G>A (p.Glu939=)
c.2154G>A (p.Glu718=)
c.6669G>A (p.Glu2223=)
n.8192G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
5g.13793673T>ACA359221474DNAH5c.8066A>T (p.Glu2689Val)
c.8021A>T (p.Glu2674Val)
n.8273A>T
c.8174A>T (p.Glu2725Val)
c.7079A>T (p.Glu2360Val)
c.3263A>T (p.Glu1088Val)
c.2816A>T (p.Glu939Val)
c.2153A>T (p.Glu718Val)
c.6668A>T (p.Glu2223Val)
n.8191A>T
5g.13793673T>CCA359221475DNAH5c.8066A>G (p.Glu2689Gly)
c.8021A>G (p.Glu2674Gly)
n.8273A>G
c.8174A>G (p.Glu2725Gly)
c.7079A>G (p.Glu2360Gly)
c.3263A>G (p.Glu1088Gly)
c.2816A>G (p.Glu939Gly)
c.2153A>G (p.Glu718Gly)
c.6668A>G (p.Glu2223Gly)
n.8191A>G
 gnomAD v4
5g.13793673T>GCA359221476DNAH5c.8066A>C (p.Glu2689Ala)
c.8021A>C (p.Glu2674Ala)
n.8273A>C
c.8174A>C (p.Glu2725Ala)
c.7079A>C (p.Glu2360Ala)
c.3263A>C (p.Glu1088Ala)
c.2816A>C (p.Glu939Ala)
c.2153A>C (p.Glu718Ala)
c.6668A>C (p.Glu2223Ala)
n.8191A>C
5g.13793674C>ACA359221477DNAH5c.8065G>T (p.Glu2689Ter)
c.8020G>T (p.Glu2674Ter)
n.8272G>T
c.8173G>T (p.Glu2725Ter)
c.7078G>T (p.Glu2360Ter)
c.3262G>T (p.Glu1088Ter)
c.2815G>T (p.Glu939Ter)
c.2152G>T (p.Glu718Ter)
c.6667G>T (p.Glu2223Ter)
n.8190G>T
5g.13793674C>GCA359221479DNAH5c.8065G>C (p.Glu2689Gln)
c.8020G>C (p.Glu2674Gln)
n.8272G>C
c.8173G>C (p.Glu2725Gln)
c.7078G>C (p.Glu2360Gln)
c.3262G>C (p.Glu1088Gln)
c.2815G>C (p.Glu939Gln)
c.2152G>C (p.Glu718Gln)
c.6667G>C (p.Glu2223Gln)
n.8190G>C
5g.13793674C>TCA359221478DNAH5c.8065G>A (p.Glu2689Lys)
c.8020G>A (p.Glu2674Lys)
n.8272G>A
c.8173G>A (p.Glu2725Lys)
c.7078G>A (p.Glu2360Lys)
c.3262G>A (p.Glu1088Lys)
c.2815G>A (p.Glu939Lys)
c.2152G>A (p.Glu718Lys)
c.6667G>A (p.Glu2223Lys)
n.8190G>A
5g.13793675T>ACA443266531DNAH5c.8064A>T (p.Leu2688=)
c.8019A>T (p.Leu2673=)
n.8271A>T
c.8172A>T (p.Leu2724=)
c.7077A>T (p.Leu2359=)
c.3261A>T (p.Leu1087=)
c.2814A>T (p.Leu938=)
c.2151A>T (p.Leu717=)
c.6666A>T (p.Leu2222=)
n.8189A>T
5g.13793675T>CCA3202907DNAH5c.8064A>G (p.Leu2688=)
c.8019A>G (p.Leu2673=)
n.8271A>G
c.8172A>G (p.Leu2724=)
c.7077A>G (p.Leu2359=)
c.3261A>G (p.Leu1087=)
c.2814A>G (p.Leu938=)
c.2151A>G (p.Leu717=)
c.6666A>G (p.Leu2222=)
n.8189A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13793675T>GCA443266533DNAH5c.8064A>C (p.Leu2688=)
c.8019A>C (p.Leu2673=)
n.8271A>C
c.8172A>C (p.Leu2724=)
c.7077A>C (p.Leu2359=)
c.3261A>C (p.Leu1087=)
c.2814A>C (p.Leu938=)
c.2151A>C (p.Leu717=)
c.6666A>C (p.Leu2222=)
n.8189A>C
5g.13793675T=CA1528441701DNAH5c.8064A= (p.Leu2688=)
c.8019A= (p.Leu2673=)
n.8271A=
c.8172A= (p.Leu2724=)
c.7077A= (p.Leu2359=)
c.3261A= (p.Leu1087=)
c.2814A= (p.Leu938=)
c.2151A= (p.Leu717=)
c.6666A= (p.Leu2222=)
n.8189A=
5g.13793676A>CCA359221480DNAH5c.8063T>G (p.Leu2688Arg)
c.8018T>G (p.Leu2673Arg)
n.8270T>G
c.8171T>G (p.Leu2724Arg)
c.7076T>G (p.Leu2359Arg)
c.3260T>G (p.Leu1087Arg)
c.2813T>G (p.Leu938Arg)
c.2150T>G (p.Leu717Arg)
c.6665T>G (p.Leu2222Arg)
n.8188T>G
5g.13793676A>GCA359221481DNAH5c.8063T>C (p.Leu2688Pro)
c.8018T>C (p.Leu2673Pro)
n.8270T>C
c.8171T>C (p.Leu2724Pro)
c.7076T>C (p.Leu2359Pro)
c.3260T>C (p.Leu1087Pro)
c.2813T>C (p.Leu938Pro)
c.2150T>C (p.Leu717Pro)
c.6665T>C (p.Leu2222Pro)
n.8188T>C
 COSMIC
5g.13793676A>TCA359221482DNAH5c.8063T>A (p.Leu2688Gln)
c.8018T>A (p.Leu2673Gln)
n.8270T>A
c.8171T>A (p.Leu2724Gln)
c.7076T>A (p.Leu2359Gln)
c.3260T>A (p.Leu1087Gln)
c.2813T>A (p.Leu938Gln)
c.2150T>A (p.Leu717Gln)
c.6665T>A (p.Leu2222Gln)
n.8188T>A
5g.13793677G>ACA443266537DNAH5c.8062C>T (p.Leu2688=)
c.8017C>T (p.Leu2673=)
n.8269C>T
c.8170C>T (p.Leu2724=)
c.7075C>T (p.Leu2359=)
c.3259C>T (p.Leu1087=)
c.2812C>T (p.Leu938=)
c.2149C>T (p.Leu717=)
c.6664C>T (p.Leu2222=)
n.8187C>T
5g.13793677G>CCA359221483DNAH5c.8062C>G (p.Leu2688Val)
c.8017C>G (p.Leu2673Val)
n.8269C>G
c.8170C>G (p.Leu2724Val)
c.7075C>G (p.Leu2359Val)
c.3259C>G (p.Leu1087Val)
c.2812C>G (p.Leu938Val)
c.2149C>G (p.Leu717Val)
c.6664C>G (p.Leu2222Val)
n.8187C>G
5g.13793677G>TCA359221484DNAH5c.8062C>A (p.Leu2688Ile)
c.8017C>A (p.Leu2673Ile)
n.8269C>A
c.8170C>A (p.Leu2724Ile)
c.7075C>A (p.Leu2359Ile)
c.3259C>A (p.Leu1087Ile)
c.2812C>A (p.Leu938Ile)
c.2149C>A (p.Leu717Ile)
c.6664C>A (p.Leu2222Ile)
n.8187C>A
5g.13793678A>CCA359221485DNAH5c.8061T>G (p.Asn2687Lys)
c.8016T>G (p.Asn2672Lys)
n.8268T>G
c.8169T>G (p.Asn2723Lys)
c.7074T>G (p.Asn2358Lys)
c.3258T>G (p.Asn1086Lys)
c.2811T>G (p.Asn937Lys)
c.2148T>G (p.Asn716Lys)
c.6663T>G (p.Asn2221Lys)
n.8186T>G
5g.13793678A>GCA443266545DNAH5c.8061T>C (p.Asn2687=)
c.8016T>C (p.Asn2672=)
n.8268T>C
c.8169T>C (p.Asn2723=)
c.7074T>C (p.Asn2358=)
c.3258T>C (p.Asn1086=)
c.2811T>C (p.Asn937=)
c.2148T>C (p.Asn716=)
c.6663T>C (p.Asn2221=)
n.8186T>C
5g.13793678A>TCA359221486DNAH5c.8061T>A (p.Asn2687Lys)
c.8016T>A (p.Asn2672Lys)
n.8268T>A
c.8169T>A (p.Asn2723Lys)
c.7074T>A (p.Asn2358Lys)
c.3258T>A (p.Asn1086Lys)
c.2811T>A (p.Asn937Lys)
c.2148T>A (p.Asn716Lys)
c.6663T>A (p.Asn2221Lys)
n.8186T>A
5g.13793679T>ACA359221487DNAH5c.8060A>T (p.Asn2687Ile)
c.8015A>T (p.Asn2672Ile)
n.8267A>T
c.8168A>T (p.Asn2723Ile)
c.7073A>T (p.Asn2358Ile)
c.3257A>T (p.Asn1086Ile)
c.2810A>T (p.Asn937Ile)
c.2147A>T (p.Asn716Ile)
c.6662A>T (p.Asn2221Ile)
n.8185A>T
5g.13793679T>CCA359221488DNAH5c.8060A>G (p.Asn2687Ser)
c.8015A>G (p.Asn2672Ser)
n.8267A>G
c.8168A>G (p.Asn2723Ser)
c.7073A>G (p.Asn2358Ser)
c.3257A>G (p.Asn1086Ser)
c.2810A>G (p.Asn937Ser)
c.2147A>G (p.Asn716Ser)
c.6662A>G (p.Asn2221Ser)
n.8185A>G
 dbSNP gnomAD v4
5g.13793679T>GCA359221490DNAH5c.8060A>C (p.Asn2687Thr)
c.8015A>C (p.Asn2672Thr)
n.8267A>C
c.8168A>C (p.Asn2723Thr)
c.7073A>C (p.Asn2358Thr)
c.3257A>C (p.Asn1086Thr)
c.2810A>C (p.Asn937Thr)
c.2147A>C (p.Asn716Thr)
c.6662A>C (p.Asn2221Thr)
n.8185A>C
5g.13793679T=CA1528441702DNAH5c.8060A= (p.Asn2687=)
c.8015A= (p.Asn2672=)
n.8267A=
c.8168A= (p.Asn2723=)
c.7073A= (p.Asn2358=)
c.3257A= (p.Asn1086=)
c.2810A= (p.Asn937=)
c.2147A= (p.Asn716=)
c.6662A= (p.Asn2221=)
n.8185A=
5g.13793680T>ACA359221495DNAH5c.8059A>T (p.Asn2687Tyr)
c.8014A>T (p.Asn2672Tyr)
n.8266A>T
c.8167A>T (p.Asn2723Tyr)
c.7072A>T (p.Asn2358Tyr)
c.3256A>T (p.Asn1086Tyr)
c.2809A>T (p.Asn937Tyr)
c.2146A>T (p.Asn716Tyr)
c.6661A>T (p.Asn2221Tyr)
n.8184A>T
5g.13793680T>CCA3202908DNAH5c.8059A>G (p.Asn2687Asp)
c.8014A>G (p.Asn2672Asp)
n.8266A>G
c.8167A>G (p.Asn2723Asp)
c.7072A>G (p.Asn2358Asp)
c.3256A>G (p.Asn1086Asp)
c.2809A>G (p.Asn937Asp)
c.2146A>G (p.Asn716Asp)
c.6661A>G (p.Asn2221Asp)
n.8184A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13793680T>GCA359221492DNAH5c.8059A>C (p.Asn2687His)
c.8014A>C (p.Asn2672His)
n.8266A>C
c.8167A>C (p.Asn2723His)
c.7072A>C (p.Asn2358His)
c.3256A>C (p.Asn1086His)
c.2809A>C (p.Asn937His)
c.2146A>C (p.Asn716His)
c.6661A>C (p.Asn2221His)
n.8184A>C
5g.13793680T=CA1528441703DNAH5c.8059A= (p.Asn2687=)
c.8014A= (p.Asn2672=)
n.8266A=
c.8167A= (p.Asn2723=)
c.7072A= (p.Asn2358=)
c.3256A= (p.Asn1086=)
c.2809A= (p.Asn937=)
c.2146A= (p.Asn716=)
c.6661A= (p.Asn2221=)
n.8184A=
5g.13793681A=CA1528441704DNAH5c.8058T= (p.Tyr2686=)
c.8013T= (p.Tyr2671=)
n.8265T=
c.8166T= (p.Tyr2722=)
c.7071T= (p.Tyr2357=)
c.3255T= (p.Tyr1085=)
c.2808T= (p.Tyr936=)
c.2145T= (p.Tyr715=)
c.6660T= (p.Tyr2220=)
n.8183T=
5g.13793681A>CCA359221497DNAH5c.8058T>G (p.Tyr2686Ter)
c.8013T>G (p.Tyr2671Ter)
n.8265T>G
c.8166T>G (p.Tyr2722Ter)
c.7071T>G (p.Tyr2357Ter)
c.3255T>G (p.Tyr1085Ter)
c.2808T>G (p.Tyr936Ter)
c.2145T>G (p.Tyr715Ter)
c.6660T>G (p.Tyr2220Ter)
n.8183T>G
5g.13793681A>GCA443266566DNAH5c.8058T>C (p.Tyr2686=)
c.8013T>C (p.Tyr2671=)
n.8265T>C
c.8166T>C (p.Tyr2722=)
c.7071T>C (p.Tyr2357=)
c.3255T>C (p.Tyr1085=)
c.2808T>C (p.Tyr936=)
c.2145T>C (p.Tyr715=)
c.6660T>C (p.Tyr2220=)
n.8183T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.13793681A>TCA359221498DNAH5c.8058T>A (p.Tyr2686Ter)
c.8013T>A (p.Tyr2671Ter)
n.8265T>A
c.8166T>A (p.Tyr2722Ter)
c.7071T>A (p.Tyr2357Ter)
c.3255T>A (p.Tyr1085Ter)
c.2808T>A (p.Tyr936Ter)
c.2145T>A (p.Tyr715Ter)
c.6660T>A (p.Tyr2220Ter)
n.8183T>A
 ClinVar
5g.13793682T>ACA359221500DNAH5c.8057A>T (p.Tyr2686Phe)
c.8012A>T (p.Tyr2671Phe)
n.8264A>T
c.8165A>T (p.Tyr2722Phe)
c.7070A>T (p.Tyr2357Phe)
c.3254A>T (p.Tyr1085Phe)
c.2807A>T (p.Tyr936Phe)
c.2144A>T (p.Tyr715Phe)
c.6659A>T (p.Tyr2220Phe)
n.8182A>T
5g.13793682T>CCA3202909DNAH5c.8057A>G (p.Tyr2686Cys)
c.8012A>G (p.Tyr2671Cys)
n.8264A>G
c.8165A>G (p.Tyr2722Cys)
c.7070A>G (p.Tyr2357Cys)
c.3254A>G (p.Tyr1085Cys)
c.2807A>G (p.Tyr936Cys)
c.2144A>G (p.Tyr715Cys)
c.6659A>G (p.Tyr2220Cys)
n.8182A>G
 dbSNP ExAC gnomAD v3 gnomAD v4
5g.13793682T>GCA359221501DNAH5c.8057A>C (p.Tyr2686Ser)
c.8012A>C (p.Tyr2671Ser)
n.8264A>C
c.8165A>C (p.Tyr2722Ser)
c.7070A>C (p.Tyr2357Ser)
c.3254A>C (p.Tyr1085Ser)
c.2807A>C (p.Tyr936Ser)
c.2144A>C (p.Tyr715Ser)
c.6659A>C (p.Tyr2220Ser)
n.8182A>C
5g.13793682T=CA1528441705DNAH5c.8057A= (p.Tyr2686=)
c.8012A= (p.Tyr2671=)
n.8264A=
c.8165A= (p.Tyr2722=)
c.7070A= (p.Tyr2357=)
c.3254A= (p.Tyr1085=)
c.2807A= (p.Tyr936=)
c.2144A= (p.Tyr715=)
c.6659A= (p.Tyr2220=)
n.8182A=
5g.13793683A=CA1528441706DNAH5c.8056T= (p.Tyr2686=)
c.8011T= (p.Tyr2671=)
n.8263T=
c.8164T= (p.Tyr2722=)
c.7069T= (p.Tyr2357=)
c.3253T= (p.Tyr1085=)
c.2806T= (p.Tyr936=)
c.2143T= (p.Tyr715=)
c.6658T= (p.Tyr2220=)
n.8181T=
5g.13793683A>CCA359221504DNAH5c.8056T>G (p.Tyr2686Asp)
c.8011T>G (p.Tyr2671Asp)
n.8263T>G
c.8164T>G (p.Tyr2722Asp)
c.7069T>G (p.Tyr2357Asp)
c.3253T>G (p.Tyr1085Asp)
c.2806T>G (p.Tyr936Asp)
c.2143T>G (p.Tyr715Asp)
c.6658T>G (p.Tyr2220Asp)
n.8181T>G
5g.13793683A>GCA3202910DNAH5c.8056T>C (p.Tyr2686His)
c.8011T>C (p.Tyr2671His)
n.8263T>C
c.8164T>C (p.Tyr2722His)
c.7069T>C (p.Tyr2357His)
c.3253T>C (p.Tyr1085His)
c.2806T>C (p.Tyr936His)
c.2143T>C (p.Tyr715His)
c.6658T>C (p.Tyr2220His)
n.8181T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13793683A>TCA359221507DNAH5c.8056T>A (p.Tyr2686Asn)
c.8011T>A (p.Tyr2671Asn)
n.8263T>A
c.8164T>A (p.Tyr2722Asn)
c.7069T>A (p.Tyr2357Asn)
c.3253T>A (p.Tyr1085Asn)
c.2806T>A (p.Tyr936Asn)
c.2143T>A (p.Tyr715Asn)
c.6658T>A (p.Tyr2220Asn)
n.8181T>A
5g.13793684G>ACA443266584DNAH5c.8055C>T (p.Phe2685=)
c.8010C>T (p.Phe2670=)
n.8262C>T
c.8163C>T (p.Phe2721=)
c.7068C>T (p.Phe2356=)
c.3252C>T (p.Phe1084=)
c.2805C>T (p.Phe935=)
c.2142C>T (p.Phe714=)
c.6657C>T (p.Phe2219=)
n.8180C>T
5g.13793684G>CCA3202911DNAH5c.8055C>G (p.Phe2685Leu)
c.8010C>G (p.Phe2670Leu)
n.8262C>G
c.8163C>G (p.Phe2721Leu)
c.7068C>G (p.Phe2356Leu)
c.3252C>G (p.Phe1084Leu)
c.2805C>G (p.Phe935Leu)
c.2142C>G (p.Phe714Leu)
c.6657C>G (p.Phe2219Leu)
n.8180C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13793684G=CA1528441707DNAH5c.8055C= (p.Phe2685=)
c.8010C= (p.Phe2670=)
n.8262C=
c.8163C= (p.Phe2721=)
c.7068C= (p.Phe2356=)
c.3252C= (p.Phe1084=)
c.2805C= (p.Phe935=)
c.2142C= (p.Phe714=)
c.6657C= (p.Phe2219=)
n.8180C=
5g.13793684G>TCA359221510DNAH5c.8055C>A (p.Phe2685Leu)
c.8010C>A (p.Phe2670Leu)
n.8262C>A
c.8163C>A (p.Phe2721Leu)
c.7068C>A (p.Phe2356Leu)
c.3252C>A (p.Phe1084Leu)
c.2805C>A (p.Phe935Leu)
c.2142C>A (p.Phe714Leu)
c.6657C>A (p.Phe2219Leu)
n.8180C>A
5g.13793685A>CCA359221513DNAH5c.8054T>G (p.Phe2685Cys)
c.8009T>G (p.Phe2670Cys)
n.8261T>G
c.8162T>G (p.Phe2721Cys)
c.7067T>G (p.Phe2356Cys)
c.3251T>G (p.Phe1084Cys)
c.2804T>G (p.Phe935Cys)
c.2141T>G (p.Phe714Cys)
c.6656T>G (p.Phe2219Cys)
n.8179T>G
5g.13793685A>GCA359221514DNAH5c.8054T>C (p.Phe2685Ser)
c.8009T>C (p.Phe2670Ser)
n.8261T>C
c.8162T>C (p.Phe2721Ser)
c.7067T>C (p.Phe2356Ser)
c.3251T>C (p.Phe1084Ser)
c.2804T>C (p.Phe935Ser)
c.2141T>C (p.Phe714Ser)
c.6656T>C (p.Phe2219Ser)
n.8179T>C
5g.13793685A>TCA359221516DNAH5c.8054T>A (p.Phe2685Tyr)
c.8009T>A (p.Phe2670Tyr)
n.8261T>A
c.8162T>A (p.Phe2721Tyr)
c.7067T>A (p.Phe2356Tyr)
c.3251T>A (p.Phe1084Tyr)
c.2804T>A (p.Phe935Tyr)
c.2141T>A (p.Phe714Tyr)
c.6656T>A (p.Phe2219Tyr)
n.8179T>A
5g.13793686A>CCA359221519DNAH5c.8053T>G (p.Phe2685Val)
c.8008T>G (p.Phe2670Val)
n.8260T>G
c.8161T>G (p.Phe2721Val)
c.7066T>G (p.Phe2356Val)
c.3250T>G (p.Phe1084Val)
c.2803T>G (p.Phe935Val)
c.2140T>G (p.Phe714Val)
c.6655T>G (p.Phe2219Val)
n.8178T>G
 gnomAD v4
5g.13793686A>GCA359221520DNAH5c.8053T>C (p.Phe2685Leu)
c.8008T>C (p.Phe2670Leu)
n.8260T>C
c.8161T>C (p.Phe2721Leu)
c.7066T>C (p.Phe2356Leu)
c.3250T>C (p.Phe1084Leu)
c.2803T>C (p.Phe935Leu)
c.2140T>C (p.Phe714Leu)
c.6655T>C (p.Phe2219Leu)
n.8178T>C
5g.13793686A>TCA359221522DNAH5c.8053T>A (p.Phe2685Ile)
c.8008T>A (p.Phe2670Ile)
n.8260T>A
c.8161T>A (p.Phe2721Ile)
c.7066T>A (p.Phe2356Ile)
c.3250T>A (p.Phe1084Ile)
c.2803T>A (p.Phe935Ile)
c.2140T>A (p.Phe714Ile)
c.6655T>A (p.Phe2219Ile)
n.8178T>A
5g.13793687T>ACA443266604DNAH5c.8052A>T (p.Gly2684=)
c.8007A>T (p.Gly2669=)
n.8259A>T
c.8160A>T (p.Gly2720=)
c.7065A>T (p.Gly2355=)
c.3249A>T (p.Gly1083=)
c.2802A>T (p.Gly934=)
c.2139A>T (p.Gly713=)
c.6654A>T (p.Gly2218=)
n.8177A>T
5g.13793687T>CCA443266608DNAH5c.8052A>G (p.Gly2684=)
c.8007A>G (p.Gly2669=)
n.8259A>G
c.8160A>G (p.Gly2720=)
c.7065A>G (p.Gly2355=)
c.3249A>G (p.Gly1083=)
c.2802A>G (p.Gly934=)
c.2139A>G (p.Gly713=)
c.6654A>G (p.Gly2218=)
n.8177A>G
 ClinVar dbSNP
5g.13793687T>GCA443266610DNAH5c.8052A>C (p.Gly2684=)
c.8007A>C (p.Gly2669=)
n.8259A>C
c.8160A>C (p.Gly2720=)
c.7065A>C (p.Gly2355=)
c.3249A>C (p.Gly1083=)
c.2802A>C (p.Gly934=)
c.2139A>C (p.Gly713=)
c.6654A>C (p.Gly2218=)
n.8177A>C
5g.13793687T=CA1528441708DNAH5c.8052A= (p.Gly2684=)
c.8007A= (p.Gly2669=)
n.8259A=
c.8160A= (p.Gly2720=)
c.7065A= (p.Gly2355=)
c.3249A= (p.Gly1083=)
c.2802A= (p.Gly934=)
c.2139A= (p.Gly713=)
c.6654A= (p.Gly2218=)
n.8177A=
5g.13793688C>ACA359221528DNAH5c.8051G>T (p.Gly2684Val)
c.8006G>T (p.Gly2669Val)
n.8258G>T
c.8159G>T (p.Gly2720Val)
c.7064G>T (p.Gly2355Val)
c.3248G>T (p.Gly1083Val)
c.2801G>T (p.Gly934Val)
c.2138G>T (p.Gly713Val)
c.6653G>T (p.Gly2218Val)
n.8176G>T
5g.13793688C=CA1528441709DNAH5c.8051G= (p.Gly2684=)
c.8006G= (p.Gly2669=)
n.8258G=
c.8159G= (p.Gly2720=)
c.7064G= (p.Gly2355=)
c.3248G= (p.Gly1083=)
c.2801G= (p.Gly934=)
c.2138G= (p.Gly713=)
c.6653G= (p.Gly2218=)
n.8176G=
5g.13793688C>GCA359221525DNAH5c.8051G>C (p.Gly2684Ala)
c.8006G>C (p.Gly2669Ala)
n.8258G>C
c.8159G>C (p.Gly2720Ala)
c.7064G>C (p.Gly2355Ala)
c.3248G>C (p.Gly1083Ala)
c.2801G>C (p.Gly934Ala)
c.2138G>C (p.Gly713Ala)
c.6653G>C (p.Gly2218Ala)
n.8176G>C
5g.13793688C>TCA359221527DNAH5c.8051G>A (p.Gly2684Glu)
c.8006G>A (p.Gly2669Glu)
n.8258G>A
c.8159G>A (p.Gly2720Glu)
c.7064G>A (p.Gly2355Glu)
c.3248G>A (p.Gly1083Glu)
c.2801G>A (p.Gly934Glu)
c.2138G>A (p.Gly713Glu)
c.6653G>A (p.Gly2218Glu)
n.8176G>A
 dbSNP gnomAD v4
5g.13793689C>ACA113961942DNAH5c.8050G>T (p.Gly2684Ter)
c.8005G>T (p.Gly2669Ter)
n.8257G>T
c.8158G>T (p.Gly2720Ter)
c.7063G>T (p.Gly2355Ter)
c.3247G>T (p.Gly1083Ter)
c.2800G>T (p.Gly934Ter)
c.2137G>T (p.Gly713Ter)
c.6652G>T (p.Gly2218Ter)
n.8175G>T
 dbSNP
5g.13793689C=CA1528441710DNAH5c.8050G= (p.Gly2684=)
c.8005G= (p.Gly2669=)
n.8257G=
c.8158G= (p.Gly2720=)
c.7063G= (p.Gly2355=)
c.3247G= (p.Gly1083=)
c.2800G= (p.Gly934=)
c.2137G= (p.Gly713=)
c.6652G= (p.Gly2218=)
n.8175G=
5g.13793689C>GCA359221531DNAH5c.8050G>C (p.Gly2684Arg)
c.8005G>C (p.Gly2669Arg)
n.8257G>C
c.8158G>C (p.Gly2720Arg)
c.7063G>C (p.Gly2355Arg)
c.3247G>C (p.Gly1083Arg)
c.2800G>C (p.Gly934Arg)
c.2137G>C (p.Gly713Arg)
c.6652G>C (p.Gly2218Arg)
n.8175G>C
5g.13793689C>TCA359221533DNAH5c.8050G>A (p.Gly2684Arg)
c.8005G>A (p.Gly2669Arg)
n.8257G>A
c.8158G>A (p.Gly2720Arg)
c.7063G>A (p.Gly2355Arg)
c.3247G>A (p.Gly1083Arg)
c.2800G>A (p.Gly934Arg)
c.2137G>A (p.Gly713Arg)
c.6652G>A (p.Gly2218Arg)
n.8175G>A
 gnomAD v4 COSMIC
5g.13793690A>CCA359221535DNAH5c.8049T>G (p.Asn2683Lys)
c.8004T>G (p.Asn2668Lys)
n.8256T>G
c.8157T>G (p.Asn2719Lys)
c.7062T>G (p.Asn2354Lys)
c.3246T>G (p.Asn1082Lys)
c.2799T>G (p.Asn933Lys)
c.2136T>G (p.Asn712Lys)
c.6651T>G (p.Asn2217Lys)
n.8174T>G
5g.13793690A>GCA443266618DNAH5c.8049T>C (p.Asn2683=)
c.8004T>C (p.Asn2668=)
n.8256T>C
c.8157T>C (p.Asn2719=)
c.7062T>C (p.Asn2354=)
c.3246T>C (p.Asn1082=)
c.2799T>C (p.Asn933=)
c.2136T>C (p.Asn712=)
c.6651T>C (p.Asn2217=)
n.8174T>C
5g.13793690A>TCA359221537DNAH5c.8049T>A (p.Asn2683Lys)
c.8004T>A (p.Asn2668Lys)
n.8256T>A
c.8157T>A (p.Asn2719Lys)
c.7062T>A (p.Asn2354Lys)
c.3246T>A (p.Asn1082Lys)
c.2799T>A (p.Asn933Lys)
c.2136T>A (p.Asn712Lys)
c.6651T>A (p.Asn2217Lys)
n.8174T>A
5g.13793691T>ACA359221539DNAH5c.8048A>T (p.Asn2683Ile)
c.8003A>T (p.Asn2668Ile)
n.8255A>T
c.8156A>T (p.Asn2719Ile)
c.7061A>T (p.Asn2354Ile)
c.3245A>T (p.Asn1082Ile)
c.2798A>T (p.Asn933Ile)
c.2135A>T (p.Asn712Ile)
c.6650A>T (p.Asn2217Ile)
n.8173A>T
5g.13793691T>CCA359221541DNAH5c.8048A>G (p.Asn2683Ser)
c.8003A>G (p.Asn2668Ser)
n.8255A>G
c.8156A>G (p.Asn2719Ser)
c.7061A>G (p.Asn2354Ser)
c.3245A>G (p.Asn1082Ser)
c.2798A>G (p.Asn933Ser)
c.2135A>G (p.Asn712Ser)
c.6650A>G (p.Asn2217Ser)
n.8173A>G
 dbSNP gnomAD v4
5g.13793691T>GCA359221543DNAH5c.8048A>C (p.Asn2683Thr)
c.8003A>C (p.Asn2668Thr)
n.8255A>C
c.8156A>C (p.Asn2719Thr)
c.7061A>C (p.Asn2354Thr)
c.3245A>C (p.Asn1082Thr)
c.2798A>C (p.Asn933Thr)
c.2135A>C (p.Asn712Thr)
c.6650A>C (p.Asn2217Thr)
n.8173A>C
5g.13793691T=CA1528441711DNAH5c.8048A= (p.Asn2683=)
c.8003A= (p.Asn2668=)
n.8255A=
c.8156A= (p.Asn2719=)
c.7061A= (p.Asn2354=)
c.3245A= (p.Asn1082=)
c.2798A= (p.Asn933=)
c.2135A= (p.Asn712=)
c.6650A= (p.Asn2217=)
n.8173A=
5g.13793692T>ACA359221545DNAH5c.8047A>T (p.Asn2683Tyr)
c.8002A>T (p.Asn2668Tyr)
n.8254A>T
c.8155A>T (p.Asn2719Tyr)
c.7060A>T (p.Asn2354Tyr)
c.3244A>T (p.Asn1082Tyr)
c.2797A>T (p.Asn933Tyr)
c.2134A>T (p.Asn712Tyr)
c.6649A>T (p.Asn2217Tyr)
n.8172A>T
5g.13793692T>CCA359221547DNAH5c.8047A>G (p.Asn2683Asp)
c.8002A>G (p.Asn2668Asp)
n.8254A>G
c.8155A>G (p.Asn2719Asp)
c.7060A>G (p.Asn2354Asp)
c.3244A>G (p.Asn1082Asp)
c.2797A>G (p.Asn933Asp)
c.2134A>G (p.Asn712Asp)
c.6649A>G (p.Asn2217Asp)
n.8172A>G
5g.13793692T>GCA359221549DNAH5c.8047A>C (p.Asn2683His)
c.8002A>C (p.Asn2668His)
n.8254A>C
c.8155A>C (p.Asn2719His)
c.7060A>C (p.Asn2354His)
c.3244A>C (p.Asn1082His)
c.2797A>C (p.Asn933His)
c.2134A>C (p.Asn712His)
c.6649A>C (p.Asn2217His)
n.8172A>C
5g.13793693T>ACA359221553DNAH5c.8046A>T (p.Gln2682His)
c.8001A>T (p.Gln2667His)
n.8253A>T
c.8154A>T (p.Gln2718His)
c.7059A>T (p.Gln2353His)
c.3243A>T (p.Gln1081His)
c.2796A>T (p.Gln932His)
c.2133A>T (p.Gln711His)
c.6648A>T (p.Gln2216His)
n.8171A>T
5g.13793693T>CCA443266639DNAH5c.8046A>G (p.Gln2682=)
c.8001A>G (p.Gln2667=)
n.8253A>G
c.8154A>G (p.Gln2718=)
c.7059A>G (p.Gln2353=)
c.3243A>G (p.Gln1081=)
c.2796A>G (p.Gln932=)
c.2133A>G (p.Gln711=)
c.6648A>G (p.Gln2216=)
n.8171A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.13793693T>GCA359221551DNAH5c.8046A>C (p.Gln2682His)
c.8001A>C (p.Gln2667His)
n.8253A>C
c.8154A>C (p.Gln2718His)
c.7059A>C (p.Gln2353His)
c.3243A>C (p.Gln1081His)
c.2796A>C (p.Gln932His)
c.2133A>C (p.Gln711His)
c.6648A>C (p.Gln2216His)
n.8171A>C
5g.13793693T=CA1528441712DNAH5c.8046A= (p.Gln2682=)
c.8001A= (p.Gln2667=)
n.8253A=
c.8154A= (p.Gln2718=)
c.7059A= (p.Gln2353=)
c.3243A= (p.Gln1081=)
c.2796A= (p.Gln932=)
c.2133A= (p.Gln711=)
c.6648A= (p.Gln2216=)
n.8171A=
5g.13793694T>ACA359221555DNAH5c.8045A>T (p.Gln2682Leu)
c.8000A>T (p.Gln2667Leu)
n.8252A>T
c.8153A>T (p.Gln2718Leu)
c.7058A>T (p.Gln2353Leu)
c.3242A>T (p.Gln1081Leu)
c.2795A>T (p.Gln932Leu)
c.2132A>T (p.Gln711Leu)
c.6647A>T (p.Gln2216Leu)
n.8170A>T
5g.13793694T>CCA359221556DNAH5c.8045A>G (p.Gln2682Arg)
c.8000A>G (p.Gln2667Arg)
n.8252A>G
c.8153A>G (p.Gln2718Arg)
c.7058A>G (p.Gln2353Arg)
c.3242A>G (p.Gln1081Arg)
c.2795A>G (p.Gln932Arg)
c.2132A>G (p.Gln711Arg)
c.6647A>G (p.Gln2216Arg)
n.8170A>G
5g.13793694T>GCA359221558DNAH5c.8045A>C (p.Gln2682Pro)
c.8000A>C (p.Gln2667Pro)
n.8252A>C
c.8153A>C (p.Gln2718Pro)
c.7058A>C (p.Gln2353Pro)
c.3242A>C (p.Gln1081Pro)
c.2795A>C (p.Gln932Pro)
c.2132A>C (p.Gln711Pro)
c.6647A>C (p.Gln2216Pro)
n.8170A>C
5g.13793695G>ACA359221560DNAH5c.8044C>T (p.Gln2682Ter)
c.7999C>T (p.Gln2667Ter)
n.8251C>T
c.8152C>T (p.Gln2718Ter)
c.7057C>T (p.Gln2353Ter)
c.3241C>T (p.Gln1081Ter)
c.2794C>T (p.Gln932Ter)
c.2131C>T (p.Gln711Ter)
c.6646C>T (p.Gln2216Ter)
n.8169C>T
 ClinVar dbSNP
5g.13793695G>CCA359221562DNAH5c.8044C>G (p.Gln2682Glu)
c.7999C>G (p.Gln2667Glu)
n.8251C>G
c.8152C>G (p.Gln2718Glu)
c.7057C>G (p.Gln2353Glu)
c.3241C>G (p.Gln1081Glu)
c.2794C>G (p.Gln932Glu)
c.2131C>G (p.Gln711Glu)
c.6646C>G (p.Gln2216Glu)
n.8169C>G
5g.13793695G=CA1528441713DNAH5c.8044C= (p.Gln2682=)
c.7999C= (p.Gln2667=)
n.8251C=
c.8152C= (p.Gln2718=)
c.7057C= (p.Gln2353=)
c.3241C= (p.Gln1081=)
c.2794C= (p.Gln932=)
c.2131C= (p.Gln711=)
c.6646C= (p.Gln2216=)
n.8169C=
5g.13793695G>TCA359221563DNAH5c.8044C>A (p.Gln2682Lys)
c.7999C>A (p.Gln2667Lys)
n.8251C>A
c.8152C>A (p.Gln2718Lys)
c.7057C>A (p.Gln2353Lys)
c.3241C>A (p.Gln1081Lys)
c.2794C>A (p.Gln932Lys)
c.2131C>A (p.Gln711Lys)
c.6646C>A (p.Gln2216Lys)
n.8169C>A
 COSMIC
5g.13793696T>ACA359221566DNAH5c.8043A>T (p.Glu2681Asp)
c.7998A>T (p.Glu2666Asp)
n.8250A>T
c.8151A>T (p.Glu2717Asp)
c.7056A>T (p.Glu2352Asp)
c.3240A>T (p.Glu1080Asp)
c.2793A>T (p.Glu931Asp)
c.2130A>T (p.Glu710Asp)
c.6645A>T (p.Glu2215Asp)
n.8168A>T
5g.13793696T>CCA443266657DNAH5c.8043A>G (p.Glu2681=)
c.7998A>G (p.Glu2666=)
n.8250A>G
c.8151A>G (p.Glu2717=)
c.7056A>G (p.Glu2352=)
c.3240A>G (p.Glu1080=)
c.2793A>G (p.Glu931=)
c.2130A>G (p.Glu710=)
c.6645A>G (p.Glu2215=)
n.8168A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.13793696T>GCA359221568DNAH5c.8043A>C (p.Glu2681Asp)
c.7998A>C (p.Glu2666Asp)
n.8250A>C
c.8151A>C (p.Glu2717Asp)
c.7056A>C (p.Glu2352Asp)
c.3240A>C (p.Glu1080Asp)
c.2793A>C (p.Glu931Asp)
c.2130A>C (p.Glu710Asp)
c.6645A>C (p.Glu2215Asp)
n.8168A>C
 ClinVar
5g.13793696T=CA1528441714DNAH5c.8043A= (p.Glu2681=)
c.7998A= (p.Glu2666=)
n.8250A=
c.8151A= (p.Glu2717=)
c.7056A= (p.Glu2352=)
c.3240A= (p.Glu1080=)
c.2793A= (p.Glu931=)
c.2130A= (p.Glu710=)
c.6645A= (p.Glu2215=)
n.8168A=
5g.13793697T>ACA359221569DNAH5c.8042A>T (p.Glu2681Val)
c.7997A>T (p.Glu2666Val)
n.8249A>T
c.8150A>T (p.Glu2717Val)
c.7055A>T (p.Glu2352Val)
c.3239A>T (p.Glu1080Val)
c.2792A>T (p.Glu931Val)
c.2129A>T (p.Glu710Val)
c.6644A>T (p.Glu2215Val)
n.8167A>T
5g.13793697T>CCA359221571DNAH5c.8042A>G (p.Glu2681Gly)
c.7997A>G (p.Glu2666Gly)
n.8249A>G
c.8150A>G (p.Glu2717Gly)
c.7055A>G (p.Glu2352Gly)
c.3239A>G (p.Glu1080Gly)
c.2792A>G (p.Glu931Gly)
c.2129A>G (p.Glu710Gly)
c.6644A>G (p.Glu2215Gly)
n.8167A>G
5g.13793697T>GCA359221572DNAH5c.8042A>C (p.Glu2681Ala)
c.7997A>C (p.Glu2666Ala)
n.8249A>C
c.8150A>C (p.Glu2717Ala)
c.7055A>C (p.Glu2352Ala)
c.3239A>C (p.Glu1080Ala)
c.2792A>C (p.Glu931Ala)
c.2129A>C (p.Glu710Ala)
c.6644A>C (p.Glu2215Ala)
n.8167A>C
5g.13793697_13793698delinsTCCA1528441715DNAH5c.8041_8042delinsGA (p.Glu2681=)
c.7996_7997delinsGA (p.Glu2666=)
n.8248_8249delinsGA
c.8149_8150delinsGA (p.Glu2717=)
c.7054_7055delinsGA (p.Glu2352=)
c.3238_3239delinsGA (p.Glu1080=)
c.2791_2792delinsGA (p.Glu931=)
c.2128_2129delinsGA (p.Glu710=)
c.6643_6644delinsGA (p.Glu2215=)
n.8166_8167delinsGA
5g.13793698C>ACA359221578DNAH5c.8041G>T (p.Glu2681Ter)
c.7996G>T (p.Glu2666Ter)
n.8248G>T
c.8149G>T (p.Glu2717Ter)
c.7054G>T (p.Glu2352Ter)
c.3238G>T (p.Glu1080Ter)
c.2791G>T (p.Glu931Ter)
c.2128G>T (p.Glu710Ter)
c.6643G>T (p.Glu2215Ter)
n.8166G>T
5g.13793698C>GCA359221580DNAH5c.8041G>C (p.Glu2681Gln)
c.7996G>C (p.Glu2666Gln)
n.8248G>C
c.8149G>C (p.Glu2717Gln)
c.7054G>C (p.Glu2352Gln)
c.3238G>C (p.Glu1080Gln)
c.2791G>C (p.Glu931Gln)
c.2128G>C (p.Glu710Gln)
c.6643G>C (p.Glu2215Gln)
n.8166G>C
5g.13793698C>TCA359221576DNAH5c.8041G>A (p.Glu2681Lys)
c.7996G>A (p.Glu2666Lys)
n.8248G>A
c.8149G>A (p.Glu2717Lys)
c.7054G>A (p.Glu2352Lys)
c.3238G>A (p.Glu1080Lys)
c.2791G>A (p.Glu931Lys)
c.2128G>A (p.Glu710Lys)
c.6643G>A (p.Glu2215Lys)
n.8166G>A
 gnomAD v4 COSMIC
5g.13793699delCA3202912DNAH5c.8041del (p.Glu2681AsnfsTer8)
c.7996del (p.Glu2666AsnfsTer8)
n.8248del
c.8149del (p.Glu2717AsnfsTer8)
c.7054del (p.Glu2352AsnfsTer8)
c.3238del (p.Glu1080AsnfsTer8)
c.2791del (p.Glu931AsnfsTer8)
c.2128del (p.Glu710AsnfsTer8)
c.6643del (p.Glu2215AsnfsTer8)
n.8166del
 dbSNP ExAC gnomAD v2
5g.13793699C>ACA359221583DNAH5c.8040G>T (p.Met2680Ile)
c.7995G>T (p.Met2665Ile)
n.8247G>T
c.8148G>T (p.Met2716Ile)
c.7053G>T (p.Met2351Ile)
c.3237G>T (p.Met1079Ile)
c.2790G>T (p.Met930Ile)
c.2127G>T (p.Met709Ile)
c.6642G>T (p.Met2214Ile)
n.8165G>T
5g.13793699C=CA1528441716DNAH5c.8040G= (p.Met2680=)
c.7995G= (p.Met2665=)
n.8247G=
c.8148G= (p.Met2716=)
c.7053G= (p.Met2351=)
c.3237G= (p.Met1079=)
c.2790G= (p.Met930=)
c.2127G= (p.Met709=)
c.6642G= (p.Met2214=)
n.8165G=
5g.13793699C>GCA3202913DNAH5c.8040G>C (p.Met2680Ile)
c.7995G>C (p.Met2665Ile)
n.8247G>C
c.8148G>C (p.Met2716Ile)
c.7053G>C (p.Met2351Ile)
c.3237G>C (p.Met1079Ile)
c.2790G>C (p.Met930Ile)
c.2127G>C (p.Met709Ile)
c.6642G>C (p.Met2214Ile)
n.8165G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13793699C>TCA359221585DNAH5c.8040G>A (p.Met2680Ile)
c.7995G>A (p.Met2665Ile)
n.8247G>A
c.8148G>A (p.Met2716Ile)
c.7053G>A (p.Met2351Ile)
c.3237G>A (p.Met1079Ile)
c.2790G>A (p.Met930Ile)
c.2127G>A (p.Met709Ile)
c.6642G>A (p.Met2214Ile)
n.8165G>A
5g.13793700A=CA1528441717DNAH5c.8039T= (p.Met2680=)
c.7994T= (p.Met2665=)
n.8246T=
c.8147T= (p.Met2716=)
c.7052T= (p.Met2351=)
c.3236T= (p.Met1079=)
c.2789T= (p.Met930=)
c.2126T= (p.Met709=)
c.6641T= (p.Met2214=)
n.8164T=
5g.13793700A>CCA359221588DNAH5c.8039T>G (p.Met2680Arg)
c.7994T>G (p.Met2665Arg)
n.8246T>G
c.8147T>G (p.Met2716Arg)
c.7052T>G (p.Met2351Arg)
c.3236T>G (p.Met1079Arg)
c.2789T>G (p.Met930Arg)
c.2126T>G (p.Met709Arg)
c.6641T>G (p.Met2214Arg)
n.8164T>G
5g.13793700A>GCA359221589DNAH5c.8039T>C (p.Met2680Thr)
c.7994T>C (p.Met2665Thr)
n.8246T>C
c.8147T>C (p.Met2716Thr)
c.7052T>C (p.Met2351Thr)
c.3236T>C (p.Met1079Thr)
c.2789T>C (p.Met930Thr)
c.2126T>C (p.Met709Thr)
c.6641T>C (p.Met2214Thr)
n.8164T>C
5g.13793700A>TCA113961965DNAH5c.8039T>A (p.Met2680Lys)
c.7994T>A (p.Met2665Lys)
n.8246T>A
c.8147T>A (p.Met2716Lys)
c.7052T>A (p.Met2351Lys)
c.3236T>A (p.Met1079Lys)
c.2789T>A (p.Met930Lys)
c.2126T>A (p.Met709Lys)
c.6641T>A (p.Met2214Lys)
n.8164T>A
 ClinVar dbSNP gnomAD v4
5g.13793701T>ACA359221592DNAH5c.8038A>T (p.Met2680Leu)
c.7993A>T (p.Met2665Leu)
n.8245A>T
c.8146A>T (p.Met2716Leu)
c.7051A>T (p.Met2351Leu)
c.3235A>T (p.Met1079Leu)
c.2788A>T (p.Met930Leu)
c.2125A>T (p.Met709Leu)
c.6640A>T (p.Met2214Leu)
n.8163A>T
5g.13793701T>CCA359221596DNAH5c.8038A>G (p.Met2680Val)
c.7993A>G (p.Met2665Val)
n.8245A>G
c.8146A>G (p.Met2716Val)
c.7051A>G (p.Met2351Val)
c.3235A>G (p.Met1079Val)
c.2788A>G (p.Met930Val)
c.2125A>G (p.Met709Val)
c.6640A>G (p.Met2214Val)
n.8163A>G
 dbSNP gnomAD v2 gnomAD v4
5g.13793701T>GCA359221594DNAH5c.8038A>C (p.Met2680Leu)
c.7993A>C (p.Met2665Leu)
n.8245A>C
c.8146A>C (p.Met2716Leu)
c.7051A>C (p.Met2351Leu)
c.3235A>C (p.Met1079Leu)
c.2788A>C (p.Met930Leu)
c.2125A>C (p.Met709Leu)
c.6640A>C (p.Met2214Leu)
n.8163A>C
5g.13793701T=CA1528441718DNAH5c.8038A= (p.Met2680=)
c.7993A= (p.Met2665=)
n.8245A=
c.8146A= (p.Met2716=)
c.7051A= (p.Met2351=)
c.3235A= (p.Met1079=)
c.2788A= (p.Met930=)
c.2125A= (p.Met709=)
c.6640A= (p.Met2214=)
n.8163A=
5g.13793702C>ACA443266700DNAH5c.8037G>T (p.Leu2679=)
c.7992G>T (p.Leu2664=)
n.8244G>T
c.8145G>T (p.Leu2715=)
c.7050G>T (p.Leu2350=)
c.3234G>T (p.Leu1078=)
c.2787G>T (p.Leu929=)
c.2124G>T (p.Leu708=)
c.6639G>T (p.Leu2213=)
n.8162G>T
5g.13793702C=CA1528441719DNAH5c.8037G= (p.Leu2679=)
c.7992G= (p.Leu2664=)
n.8244G=
c.8145G= (p.Leu2715=)
c.7050G= (p.Leu2350=)
c.3234G= (p.Leu1078=)
c.2787G= (p.Leu929=)
c.2124G= (p.Leu708=)
c.6639G= (p.Leu2213=)
n.8162G=
5g.13793702C>GCA443266702DNAH5c.8037G>C (p.Leu2679=)
c.7992G>C (p.Leu2664=)
n.8244G>C
c.8145G>C (p.Leu2715=)
c.7050G>C (p.Leu2350=)
c.3234G>C (p.Leu1078=)
c.2787G>C (p.Leu929=)
c.2124G>C (p.Leu708=)
c.6639G>C (p.Leu2213=)
n.8162G>C
5g.13793702C>TCA443266705DNAH5c.8037G>A (p.Leu2679=)
c.7992G>A (p.Leu2664=)
n.8244G>A
c.8145G>A (p.Leu2715=)
c.7050G>A (p.Leu2350=)
c.3234G>A (p.Leu1078=)
c.2787G>A (p.Leu929=)
c.2124G>A (p.Leu708=)
c.6639G>A (p.Leu2213=)
n.8162G>A
 dbSNP gnomAD v2 gnomAD v4
5g.13793703A=CA1528441720DNAH5c.8036T= (p.Leu2679=)
c.7991T= (p.Leu2664=)
n.8243T=
c.8144T= (p.Leu2715=)
c.7049T= (p.Leu2350=)
c.3233T= (p.Leu1078=)
c.2786T= (p.Leu929=)
c.2123T= (p.Leu708=)
c.6638T= (p.Leu2213=)
n.8161T=
5g.13793703A>CCA359221597DNAH5c.8036T>G (p.Leu2679Arg)
c.7991T>G (p.Leu2664Arg)
n.8243T>G
c.8144T>G (p.Leu2715Arg)
c.7049T>G (p.Leu2350Arg)
c.3233T>G (p.Leu1078Arg)
c.2786T>G (p.Leu929Arg)
c.2123T>G (p.Leu708Arg)
c.6638T>G (p.Leu2213Arg)
n.8161T>G
5g.13793703A>GCA359221599DNAH5c.8036T>C (p.Leu2679Pro)
c.7991T>C (p.Leu2664Pro)
n.8243T>C
c.8144T>C (p.Leu2715Pro)
c.7049T>C (p.Leu2350Pro)
c.3233T>C (p.Leu1078Pro)
c.2786T>C (p.Leu929Pro)
c.2123T>C (p.Leu708Pro)
c.6638T>C (p.Leu2213Pro)
n.8161T>C
5g.13793703A>TCA359221601DNAH5c.8036T>A (p.Leu2679Gln)
c.7991T>A (p.Leu2664Gln)
n.8243T>A
c.8144T>A (p.Leu2715Gln)
c.7049T>A (p.Leu2350Gln)
c.3233T>A (p.Leu1078Gln)
c.2786T>A (p.Leu929Gln)
c.2123T>A (p.Leu708Gln)
c.6638T>A (p.Leu2213Gln)
n.8161T>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13793704G>ACA443266722DNAH5c.8035C>T (p.Leu2679=)
c.7990C>T (p.Leu2664=)
n.8242C>T
c.8143C>T (p.Leu2715=)
c.7048C>T (p.Leu2350=)
c.3232C>T (p.Leu1078=)
c.2785C>T (p.Leu929=)
c.2122C>T (p.Leu708=)
c.6637C>T (p.Leu2213=)
n.8160C>T
5g.13793704G>CCA359221603DNAH5c.8035C>G (p.Leu2679Val)
c.7990C>G (p.Leu2664Val)
n.8242C>G
c.8143C>G (p.Leu2715Val)
c.7048C>G (p.Leu2350Val)
c.3232C>G (p.Leu1078Val)
c.2785C>G (p.Leu929Val)
c.2122C>G (p.Leu708Val)
c.6637C>G (p.Leu2213Val)
n.8160C>G
 gnomAD v4
5g.13793704G>TCA359221605DNAH5c.8035C>A (p.Leu2679Met)
c.7990C>A (p.Leu2664Met)
n.8242C>A
c.8143C>A (p.Leu2715Met)
c.7048C>A (p.Leu2350Met)
c.3232C>A (p.Leu1078Met)
c.2785C>A (p.Leu929Met)
c.2122C>A (p.Leu708Met)
c.6637C>A (p.Leu2213Met)
n.8160C>A
5g.13793705C>ACA359221608DNAH5c.8034G>T (p.Gln2678His)
c.7989G>T (p.Gln2663His)
n.8241G>T
c.8142G>T (p.Gln2714His)
c.7047G>T (p.Gln2349His)
c.3231G>T (p.Gln1077His)
c.2784G>T (p.Gln928His)
c.2121G>T (p.Gln707His)
c.6636G>T (p.Gln2212His)
n.8159G>T
5g.13793705C=CA1528441721DNAH5c.8034G= (p.Gln2678=)
c.7989G= (p.Gln2663=)
n.8241G=
c.8142G= (p.Gln2714=)
c.7047G= (p.Gln2349=)
c.3231G= (p.Gln1077=)
c.2784G= (p.Gln928=)
c.2121G= (p.Gln707=)
c.6636G= (p.Gln2212=)
n.8159G=
5g.13793705C>GCA359221610DNAH5c.8034G>C (p.Gln2678His)
c.7989G>C (p.Gln2663His)
n.8241G>C
c.8142G>C (p.Gln2714His)
c.7047G>C (p.Gln2349His)
c.3231G>C (p.Gln1077His)
c.2784G>C (p.Gln928His)
c.2121G>C (p.Gln707His)
c.6636G>C (p.Gln2212His)
n.8159G>C
5g.13793705C>TCA3202914DNAH5c.8034G>A (p.Gln2678=)
c.7989G>A (p.Gln2663=)
n.8241G>A
c.8142G>A (p.Gln2714=)
c.7047G>A (p.Gln2349=)
c.3231G>A (p.Gln1077=)
c.2784G>A (p.Gln928=)
c.2121G>A (p.Gln707=)
c.6636G>A (p.Gln2212=)
n.8159G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13793706T>ACA359221616DNAH5c.8033A>T (p.Gln2678Leu)
c.7988A>T (p.Gln2663Leu)
n.8240A>T
c.8141A>T (p.Gln2714Leu)
c.7046A>T (p.Gln2349Leu)
c.3230A>T (p.Gln1077Leu)
c.2783A>T (p.Gln928Leu)
c.2120A>T (p.Gln707Leu)
c.6635A>T (p.Gln2212Leu)
n.8158A>T
 dbSNP gnomAD v3 gnomAD v4
5g.13793706T>CCA359221612DNAH5c.8033A>G (p.Gln2678Arg)
c.7988A>G (p.Gln2663Arg)
n.8240A>G
c.8141A>G (p.Gln2714Arg)
c.7046A>G (p.Gln2349Arg)
c.3230A>G (p.Gln1077Arg)
c.2783A>G (p.Gln928Arg)
c.2120A>G (p.Gln707Arg)
c.6635A>G (p.Gln2212Arg)
n.8158A>G
5g.13793706T>GCA359221614DNAH5c.8033A>C (p.Gln2678Pro)
c.7988A>C (p.Gln2663Pro)
n.8240A>C
c.8141A>C (p.Gln2714Pro)
c.7046A>C (p.Gln2349Pro)
c.3230A>C (p.Gln1077Pro)
c.2783A>C (p.Gln928Pro)
c.2120A>C (p.Gln707Pro)
c.6635A>C (p.Gln2212Pro)
n.8158A>C
5g.13793706T=CA1528441722DNAH5c.8033A= (p.Gln2678=)
c.7988A= (p.Gln2663=)
n.8240A=
c.8141A= (p.Gln2714=)
c.7046A= (p.Gln2349=)
c.3230A= (p.Gln1077=)
c.2783A= (p.Gln928=)
c.2120A= (p.Gln707=)
c.6635A= (p.Gln2212=)
n.8158A=
5g.13793707G>ACA113961993DNAH5c.8032C>T (p.Gln2678Ter)
c.7987C>T (p.Gln2663Ter)
n.8239C>T
c.8140C>T (p.Gln2714Ter)
c.7045C>T (p.Gln2349Ter)
c.3229C>T (p.Gln1077Ter)
c.2782C>T (p.Gln928Ter)
c.2119C>T (p.Gln707Ter)
c.6634C>T (p.Gln2212Ter)
n.8157C>T
 ClinVar dbSNP gnomAD v4
5g.13793707G>CCA359221619DNAH5c.8032C>G (p.Gln2678Glu)
c.7987C>G (p.Gln2663Glu)
n.8239C>G
c.8140C>G (p.Gln2714Glu)
c.7045C>G (p.Gln2349Glu)
c.3229C>G (p.Gln1077Glu)
c.2782C>G (p.Gln928Glu)
c.2119C>G (p.Gln707Glu)
c.6634C>G (p.Gln2212Glu)
n.8157C>G
5g.13793707G=CA1528441723DNAH5c.8032C= (p.Gln2678=)
c.7987C= (p.Gln2663=)
n.8239C=
c.8140C= (p.Gln2714=)
c.7045C= (p.Gln2349=)
c.3229C= (p.Gln1077=)
c.2782C= (p.Gln928=)
c.2119C= (p.Gln707=)
c.6634C= (p.Gln2212=)
n.8157C=
5g.13793707G>TCA359221620DNAH5c.8032C>A (p.Gln2678Lys)
c.7987C>A (p.Gln2663Lys)
n.8239C>A
c.8140C>A (p.Gln2714Lys)
c.7045C>A (p.Gln2349Lys)
c.3229C>A (p.Gln1077Lys)
c.2782C>A (p.Gln928Lys)
c.2119C>A (p.Gln707Lys)
c.6634C>A (p.Gln2212Lys)
n.8157C>A
5g.13793708T>ACA443266748DNAH5c.8031A>T (p.Arg2677=)
c.7986A>T (p.Arg2662=)
n.8238A>T
c.8139A>T (p.Arg2713=)
c.7044A>T (p.Arg2348=)
c.3228A>T (p.Arg1076=)
c.2781A>T (p.Arg927=)
c.2118A>T (p.Arg706=)
c.6633A>T (p.Arg2211=)
n.8156A>T
5g.13793708T>CCA443266750DNAH5c.8031A>G (p.Arg2677=)
c.7986A>G (p.Arg2662=)
n.8238A>G
c.8139A>G (p.Arg2713=)
c.7044A>G (p.Arg2348=)
c.3228A>G (p.Arg1076=)
c.2781A>G (p.Arg927=)
c.2118A>G (p.Arg706=)
c.6633A>G (p.Arg2211=)
n.8156A>G
5g.13793708T>GCA443266752DNAH5c.8031A>C (p.Arg2677=)
c.7986A>C (p.Arg2662=)
n.8238A>C
c.8139A>C (p.Arg2713=)
c.7044A>C (p.Arg2348=)
c.3228A>C (p.Arg1076=)
c.2781A>C (p.Arg927=)
c.2118A>C (p.Arg706=)
c.6633A>C (p.Arg2211=)
n.8156A>C
5g.13793709C>ACA359221622DNAH5c.8030G>T (p.Arg2677Leu)
c.7985G>T (p.Arg2662Leu)
n.8237G>T
c.8138G>T (p.Arg2713Leu)
c.7043G>T (p.Arg2348Leu)
c.3227G>T (p.Arg1076Leu)
c.2780G>T (p.Arg927Leu)
c.2117G>T (p.Arg706Leu)
c.6632G>T (p.Arg2211Leu)
n.8155G>T
 gnomAD v4
5g.13793709C=CA1528441724DNAH5c.8030G= (p.Arg2677=)
c.7985G= (p.Arg2662=)
n.8237G=
c.8138G= (p.Arg2713=)
c.7043G= (p.Arg2348=)
c.3227G= (p.Arg1076=)
c.2780G= (p.Arg927=)
c.2117G= (p.Arg706=)
c.6632G= (p.Arg2211=)
n.8155G=
5g.13793709C>GCA359221624DNAH5c.8030G>C (p.Arg2677Pro)
c.7985G>C (p.Arg2662Pro)
n.8237G>C
c.8138G>C (p.Arg2713Pro)
c.7043G>C (p.Arg2348Pro)
c.3227G>C (p.Arg1076Pro)
c.2780G>C (p.Arg927Pro)
c.2117G>C (p.Arg706Pro)
c.6632G>C (p.Arg2211Pro)
n.8155G>C
 ClinVar
5g.13793709C>TCA10605536DNAH5c.8030G>A (p.Arg2677Gln)
c.7985G>A (p.Arg2662Gln)
n.8237G>A
c.8138G>A (p.Arg2713Gln)
c.7043G>A (p.Arg2348Gln)
c.3227G>A (p.Arg1076Gln)
c.2780G>A (p.Arg927Gln)
c.2117G>A (p.Arg706Gln)
c.6632G>A (p.Arg2211Gln)
n.8155G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13793710G>ACA3202915DNAH5c.8029C>T (p.Arg2677Ter)
c.7984C>T (p.Arg2662Ter)
n.8236C>T
c.8137C>T (p.Arg2713Ter)
c.7042C>T (p.Arg2348Ter)
c.3226C>T (p.Arg1076Ter)
c.2779C>T (p.Arg927Ter)
c.2116C>T (p.Arg706Ter)
c.6631C>T (p.Arg2211Ter)
n.8154C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13793710G>CCA359221628DNAH5c.8029C>G (p.Arg2677Gly)
c.7984C>G (p.Arg2662Gly)
n.8236C>G
c.8137C>G (p.Arg2713Gly)
c.7042C>G (p.Arg2348Gly)
c.3226C>G (p.Arg1076Gly)
c.2779C>G (p.Arg927Gly)
c.2116C>G (p.Arg706Gly)
c.6631C>G (p.Arg2211Gly)
n.8154C>G
5g.13793710G=CA1528441725DNAH5c.8029C= (p.Arg2677=)
c.7984C= (p.Arg2662=)
n.8236C=
c.8137C= (p.Arg2713=)
c.7042C= (p.Arg2348=)
c.3226C= (p.Arg1076=)
c.2779C= (p.Arg927=)
c.2116C= (p.Arg706=)
c.6631C= (p.Arg2211=)
n.8154C=
5g.13793710G>TCA443266762DNAH5c.8029C>A (p.Arg2677=)
c.7984C>A (p.Arg2662=)
n.8236C>A
c.8137C>A (p.Arg2713=)
c.7042C>A (p.Arg2348=)
c.3226C>A (p.Arg1076=)
c.2779C>A (p.Arg927=)
c.2116C>A (p.Arg706=)
c.6631C>A (p.Arg2211=)
n.8154C>A

Number of alleles fetched