Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.13752154T>ACA359189700DNAH5c.11008A>T (p.Lys3670Ter)
c.10963A>T (p.Lys3655Ter)
c.11116A>T (p.Lys3706Ter)
c.10021A>T (p.Lys3341Ter)
c.6205A>T (p.Lys2069Ter)
c.5758A>T (p.Lys1920Ter)
c.5095A>T (p.Lys1699Ter)
c.9610A>T (p.Lys3204Ter)
5g.13752154T>CCA359189702DNAH5c.11008A>G (p.Lys3670Glu)
c.10963A>G (p.Lys3655Glu)
c.11116A>G (p.Lys3706Glu)
c.10021A>G (p.Lys3341Glu)
c.6205A>G (p.Lys2069Glu)
c.5758A>G (p.Lys1920Glu)
c.5095A>G (p.Lys1699Glu)
c.9610A>G (p.Lys3204Glu)
5g.13752154T>GCA359189704DNAH5c.11008A>C (p.Lys3670Gln)
c.10963A>C (p.Lys3655Gln)
c.11116A>C (p.Lys3706Gln)
c.10021A>C (p.Lys3341Gln)
c.6205A>C (p.Lys2069Gln)
c.5758A>C (p.Lys1920Gln)
c.5095A>C (p.Lys1699Gln)
c.9610A>C (p.Lys3204Gln)
5g.13752155A>CCA359189706DNAH5c.11007T>G (p.Ile3669Met)
c.10962T>G (p.Ile3654Met)
c.11115T>G (p.Ile3705Met)
c.10020T>G (p.Ile3340Met)
c.6204T>G (p.Ile2068Met)
c.5757T>G (p.Ile1919Met)
c.5094T>G (p.Ile1698Met)
c.9609T>G (p.Ile3203Met)
5g.13752155A>GCA443248601DNAH5c.11007T>C (p.Ile3669=)
c.10962T>C (p.Ile3654=)
c.11115T>C (p.Ile3705=)
c.10020T>C (p.Ile3340=)
c.6204T>C (p.Ile2068=)
c.5757T>C (p.Ile1919=)
c.5094T>C (p.Ile1698=)
c.9609T>C (p.Ile3203=)
5g.13752155A>TCA443248603DNAH5c.11007T>A (p.Ile3669=)
c.10962T>A (p.Ile3654=)
c.11115T>A (p.Ile3705=)
c.10020T>A (p.Ile3340=)
c.6204T>A (p.Ile2068=)
c.5757T>A (p.Ile1919=)
c.5094T>A (p.Ile1698=)
c.9609T>A (p.Ile3203=)
5g.13752156A>CCA359189708DNAH5c.11006T>G (p.Ile3669Ser)
c.10961T>G (p.Ile3654Ser)
c.11114T>G (p.Ile3705Ser)
c.10019T>G (p.Ile3340Ser)
c.6203T>G (p.Ile2068Ser)
c.5756T>G (p.Ile1919Ser)
c.5093T>G (p.Ile1698Ser)
c.9608T>G (p.Ile3203Ser)
5g.13752156A>GCA359189710DNAH5c.11006T>C (p.Ile3669Thr)
c.10961T>C (p.Ile3654Thr)
c.11114T>C (p.Ile3705Thr)
c.10019T>C (p.Ile3340Thr)
c.6203T>C (p.Ile2068Thr)
c.5756T>C (p.Ile1919Thr)
c.5093T>C (p.Ile1698Thr)
c.9608T>C (p.Ile3203Thr)
5g.13752156A>TCA359189712DNAH5c.11006T>A (p.Ile3669Asn)
c.10961T>A (p.Ile3654Asn)
c.11114T>A (p.Ile3705Asn)
c.10019T>A (p.Ile3340Asn)
c.6203T>A (p.Ile2068Asn)
c.5756T>A (p.Ile1919Asn)
c.5093T>A (p.Ile1698Asn)
c.9608T>A (p.Ile3203Asn)
5g.13752157T>ACA359189719DNAH5c.11005A>T (p.Ile3669Phe)
c.10960A>T (p.Ile3654Phe)
c.11113A>T (p.Ile3705Phe)
c.10018A>T (p.Ile3340Phe)
c.6202A>T (p.Ile2068Phe)
c.5755A>T (p.Ile1919Phe)
c.5092A>T (p.Ile1698Phe)
c.9607A>T (p.Ile3203Phe)
5g.13752157T>CCA359189715DNAH5c.11005A>G (p.Ile3669Val)
c.10960A>G (p.Ile3654Val)
c.11113A>G (p.Ile3705Val)
c.10018A>G (p.Ile3340Val)
c.6202A>G (p.Ile2068Val)
c.5755A>G (p.Ile1919Val)
c.5092A>G (p.Ile1698Val)
c.9607A>G (p.Ile3203Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13752157T>GCA359189717DNAH5c.11005A>C (p.Ile3669Leu)
c.10960A>C (p.Ile3654Leu)
c.11113A>C (p.Ile3705Leu)
c.10018A>C (p.Ile3340Leu)
c.6202A>C (p.Ile2068Leu)
c.5755A>C (p.Ile1919Leu)
c.5092A>C (p.Ile1698Leu)
c.9607A>C (p.Ile3203Leu)
 ClinVar gnomAD v4
5g.13752157T=CA1528422922DNAH5c.11005A= (p.Ile3669=)
c.10960A= (p.Ile3654=)
c.11113A= (p.Ile3705=)
c.10018A= (p.Ile3340=)
c.6202A= (p.Ile2068=)
c.5755A= (p.Ile1919=)
c.5092A= (p.Ile1698=)
c.9607A= (p.Ile3203=)
5g.13752158G>ACA443248606DNAH5c.11004C>T (p.Phe3668=)
c.10959C>T (p.Phe3653=)
c.11112C>T (p.Phe3704=)
c.10017C>T (p.Phe3339=)
c.6201C>T (p.Phe2067=)
c.5754C>T (p.Phe1918=)
c.5091C>T (p.Phe1697=)
c.9606C>T (p.Phe3202=)
 COSMIC
5g.13752158G>CCA359189721DNAH5c.11004C>G (p.Phe3668Leu)
c.10959C>G (p.Phe3653Leu)
c.11112C>G (p.Phe3704Leu)
c.10017C>G (p.Phe3339Leu)
c.6201C>G (p.Phe2067Leu)
c.5754C>G (p.Phe1918Leu)
c.5091C>G (p.Phe1697Leu)
c.9606C>G (p.Phe3202Leu)
5g.13752158G=CA1528422923DNAH5c.11004C= (p.Phe3668=)
c.10959C= (p.Phe3653=)
c.11112C= (p.Phe3704=)
c.10017C= (p.Phe3339=)
c.6201C= (p.Phe2067=)
c.5754C= (p.Phe1918=)
c.5091C= (p.Phe1697=)
c.9606C= (p.Phe3202=)
5g.13752158G>TCA359189723DNAH5c.11004C>A (p.Phe3668Leu)
c.10959C>A (p.Phe3653Leu)
c.11112C>A (p.Phe3704Leu)
c.10017C>A (p.Phe3339Leu)
c.6201C>A (p.Phe2067Leu)
c.5754C>A (p.Phe1918Leu)
c.5091C>A (p.Phe1697Leu)
c.9606C>A (p.Phe3202Leu)
 dbSNP
5g.13752159A=CA1528422924DNAH5c.11003T= (p.Phe3668=)
c.10958T= (p.Phe3653=)
c.11111T= (p.Phe3704=)
c.10016T= (p.Phe3339=)
c.6200T= (p.Phe2067=)
c.5753T= (p.Phe1918=)
c.5090T= (p.Phe1697=)
c.9605T= (p.Phe3202=)
5g.13752159A>CCA359189725DNAH5c.11003T>G (p.Phe3668Cys)
c.10958T>G (p.Phe3653Cys)
c.11111T>G (p.Phe3704Cys)
c.10016T>G (p.Phe3339Cys)
c.6200T>G (p.Phe2067Cys)
c.5753T>G (p.Phe1918Cys)
c.5090T>G (p.Phe1697Cys)
c.9605T>G (p.Phe3202Cys)
 dbSNP gnomAD v2 gnomAD v4
5g.13752159A>GCA359189727DNAH5c.11003T>C (p.Phe3668Ser)
c.10958T>C (p.Phe3653Ser)
c.11111T>C (p.Phe3704Ser)
c.10016T>C (p.Phe3339Ser)
c.6200T>C (p.Phe2067Ser)
c.5753T>C (p.Phe1918Ser)
c.5090T>C (p.Phe1697Ser)
c.9605T>C (p.Phe3202Ser)
5g.13752159A>TCA359189730DNAH5c.11003T>A (p.Phe3668Tyr)
c.10958T>A (p.Phe3653Tyr)
c.11111T>A (p.Phe3704Tyr)
c.10016T>A (p.Phe3339Tyr)
c.6200T>A (p.Phe2067Tyr)
c.5753T>A (p.Phe1918Tyr)
c.5090T>A (p.Phe1697Tyr)
c.9605T>A (p.Phe3202Tyr)
5g.13752160A>CCA359189732DNAH5c.11002T>G (p.Phe3668Val)
c.10957T>G (p.Phe3653Val)
c.11110T>G (p.Phe3704Val)
c.10015T>G (p.Phe3339Val)
c.6199T>G (p.Phe2067Val)
c.5752T>G (p.Phe1918Val)
c.5089T>G (p.Phe1697Val)
c.9604T>G (p.Phe3202Val)
5g.13752160A>GCA359189734DNAH5c.11002T>C (p.Phe3668Leu)
c.10957T>C (p.Phe3653Leu)
c.11110T>C (p.Phe3704Leu)
c.10015T>C (p.Phe3339Leu)
c.6199T>C (p.Phe2067Leu)
c.5752T>C (p.Phe1918Leu)
c.5089T>C (p.Phe1697Leu)
c.9604T>C (p.Phe3202Leu)
5g.13752160A>TCA359189737DNAH5c.11002T>A (p.Phe3668Ile)
c.10957T>A (p.Phe3653Ile)
c.11110T>A (p.Phe3704Ile)
c.10015T>A (p.Phe3339Ile)
c.6199T>A (p.Phe2067Ile)
c.5752T>A (p.Phe1918Ile)
c.5089T>A (p.Phe1697Ile)
c.9604T>A (p.Phe3202Ile)
5g.13752161G>ACA443248610DNAH5c.11001C>T (p.Asn3667=)
c.10956C>T (p.Asn3652=)
c.11109C>T (p.Asn3703=)
c.10014C>T (p.Asn3338=)
c.6198C>T (p.Asn2066=)
c.5751C>T (p.Asn1917=)
c.5088C>T (p.Asn1696=)
c.9603C>T (p.Asn3201=)
5g.13752161G>CCA359189740DNAH5c.11001C>G (p.Asn3667Lys)
c.10956C>G (p.Asn3652Lys)
c.11109C>G (p.Asn3703Lys)
c.10014C>G (p.Asn3338Lys)
c.6198C>G (p.Asn2066Lys)
c.5751C>G (p.Asn1917Lys)
c.5088C>G (p.Asn1696Lys)
c.9603C>G (p.Asn3201Lys)
5g.13752161G>TCA359189742DNAH5c.11001C>A (p.Asn3667Lys)
c.10956C>A (p.Asn3652Lys)
c.11109C>A (p.Asn3703Lys)
c.10014C>A (p.Asn3338Lys)
c.6198C>A (p.Asn2066Lys)
c.5751C>A (p.Asn1917Lys)
c.5088C>A (p.Asn1696Lys)
c.9603C>A (p.Asn3201Lys)
5g.13752162T>ACA359189744DNAH5c.11000A>T (p.Asn3667Ile)
c.10955A>T (p.Asn3652Ile)
c.11108A>T (p.Asn3703Ile)
c.10013A>T (p.Asn3338Ile)
c.6197A>T (p.Asn2066Ile)
c.5750A>T (p.Asn1917Ile)
c.5087A>T (p.Asn1696Ile)
c.9602A>T (p.Asn3201Ile)
5g.13752162T>CCA359189746DNAH5c.11000A>G (p.Asn3667Ser)
c.10955A>G (p.Asn3652Ser)
c.11108A>G (p.Asn3703Ser)
c.10013A>G (p.Asn3338Ser)
c.6197A>G (p.Asn2066Ser)
c.5750A>G (p.Asn1917Ser)
c.5087A>G (p.Asn1696Ser)
c.9602A>G (p.Asn3201Ser)
5g.13752162T>GCA359189748DNAH5c.11000A>C (p.Asn3667Thr)
c.10955A>C (p.Asn3652Thr)
c.11108A>C (p.Asn3703Thr)
c.10013A>C (p.Asn3338Thr)
c.6197A>C (p.Asn2066Thr)
c.5750A>C (p.Asn1917Thr)
c.5087A>C (p.Asn1696Thr)
c.9602A>C (p.Asn3201Thr)
5g.13752163T>ACA359189759DNAH5c.10999A>T (p.Asn3667Tyr)
c.10954A>T (p.Asn3652Tyr)
c.11107A>T (p.Asn3703Tyr)
c.10012A>T (p.Asn3338Tyr)
c.6196A>T (p.Asn2066Tyr)
c.5749A>T (p.Asn1917Tyr)
c.5086A>T (p.Asn1696Tyr)
c.9601A>T (p.Asn3201Tyr)
5g.13752163T>CCA359189758DNAH5c.10999A>G (p.Asn3667Asp)
c.10954A>G (p.Asn3652Asp)
c.11107A>G (p.Asn3703Asp)
c.10012A>G (p.Asn3338Asp)
c.6196A>G (p.Asn2066Asp)
c.5749A>G (p.Asn1917Asp)
c.5086A>G (p.Asn1696Asp)
c.9601A>G (p.Asn3201Asp)
5g.13752163T>GCA3202085DNAH5c.10999A>C (p.Asn3667His)
c.10954A>C (p.Asn3652His)
c.11107A>C (p.Asn3703His)
c.10012A>C (p.Asn3338His)
c.6196A>C (p.Asn2066His)
c.5749A>C (p.Asn1917His)
c.5086A>C (p.Asn1696His)
c.9601A>C (p.Asn3201His)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13752163T=CA1528422925DNAH5c.10999A= (p.Asn3667=)
c.10954A= (p.Asn3652=)
c.11107A= (p.Asn3703=)
c.10012A= (p.Asn3338=)
c.6196A= (p.Asn2066=)
c.5749A= (p.Asn1917=)
c.5086A= (p.Asn1696=)
c.9601A= (p.Asn3201=)
5g.13752164T>ACA359189762DNAH5c.10998A>T (p.Arg3666Ser)
c.10953A>T (p.Arg3651Ser)
c.11106A>T (p.Arg3702Ser)
c.10011A>T (p.Arg3337Ser)
c.6195A>T (p.Arg2065Ser)
c.5748A>T (p.Arg1916Ser)
c.5085A>T (p.Arg1695Ser)
c.9600A>T (p.Arg3200Ser)
5g.13752164T>CCA443248615DNAH5c.10998A>G (p.Arg3666=)
c.10953A>G (p.Arg3651=)
c.11106A>G (p.Arg3702=)
c.10011A>G (p.Arg3337=)
c.6195A>G (p.Arg2065=)
c.5748A>G (p.Arg1916=)
c.5085A>G (p.Arg1695=)
c.9600A>G (p.Arg3200=)
 ClinVar
5g.13752164T>GCA359189764DNAH5c.10998A>C (p.Arg3666Ser)
c.10953A>C (p.Arg3651Ser)
c.11106A>C (p.Arg3702Ser)
c.10011A>C (p.Arg3337Ser)
c.6195A>C (p.Arg2065Ser)
c.5748A>C (p.Arg1916Ser)
c.5085A>C (p.Arg1695Ser)
c.9600A>C (p.Arg3200Ser)
5g.13752164_13752165delinsATCA645541002DNAH5c.10997_10998delinsAT (p.Arg3666Asn)
c.10952_10953delinsAT (p.Arg3651Asn)
c.11105_11106delinsAT (p.Arg3702Asn)
c.10010_10011delinsAT (p.Arg3337Asn)
c.6194_6195delinsAT (p.Arg2065Asn)
c.5747_5748delinsAT (p.Arg1916Asn)
c.5084_5085delinsAT (p.Arg1695Asn)
c.9599_9600delinsAT (p.Arg3200Asn)
 COSMIC
5g.13752165C>ACA359189766DNAH5c.10997G>T (p.Arg3666Ile)
c.10952G>T (p.Arg3651Ile)
c.11105G>T (p.Arg3702Ile)
c.10010G>T (p.Arg3337Ile)
c.6194G>T (p.Arg2065Ile)
c.5747G>T (p.Arg1916Ile)
c.5084G>T (p.Arg1695Ile)
c.9599G>T (p.Arg3200Ile)
 dbSNP gnomAD v2 COSMIC
5g.13752165C=CA1528422926DNAH5c.10997G= (p.Arg3666=)
c.10952G= (p.Arg3651=)
c.11105G= (p.Arg3702=)
c.10010G= (p.Arg3337=)
c.6194G= (p.Arg2065=)
c.5747G= (p.Arg1916=)
c.5084G= (p.Arg1695=)
c.9599G= (p.Arg3200=)
5g.13752165C>GCA359189768DNAH5c.10997G>C (p.Arg3666Thr)
c.10952G>C (p.Arg3651Thr)
c.11105G>C (p.Arg3702Thr)
c.10010G>C (p.Arg3337Thr)
c.6194G>C (p.Arg2065Thr)
c.5747G>C (p.Arg1916Thr)
c.5084G>C (p.Arg1695Thr)
c.9599G>C (p.Arg3200Thr)
5g.13752165C>TCA359189771DNAH5c.10997G>A (p.Arg3666Lys)
c.10952G>A (p.Arg3651Lys)
c.11105G>A (p.Arg3702Lys)
c.10010G>A (p.Arg3337Lys)
c.6194G>A (p.Arg2065Lys)
c.5747G>A (p.Arg1916Lys)
c.5084G>A (p.Arg1695Lys)
c.9599G>A (p.Arg3200Lys)
5g.13752166T>ACA359189773DNAH5c.10996A>T (p.Arg3666Ter)
c.10951A>T (p.Arg3651Ter)
c.11104A>T (p.Arg3702Ter)
c.10009A>T (p.Arg3337Ter)
c.6193A>T (p.Arg2065Ter)
c.5746A>T (p.Arg1916Ter)
c.5083A>T (p.Arg1695Ter)
c.9598A>T (p.Arg3200Ter)
 ClinVar gnomAD v4
5g.13752166T>CCA359189776DNAH5c.10996A>G (p.Arg3666Gly)
c.10951A>G (p.Arg3651Gly)
c.11104A>G (p.Arg3702Gly)
c.10009A>G (p.Arg3337Gly)
c.6193A>G (p.Arg2065Gly)
c.5746A>G (p.Arg1916Gly)
c.5083A>G (p.Arg1695Gly)
c.9598A>G (p.Arg3200Gly)
5g.13752166T>GCA443248617DNAH5c.10996A>C (p.Arg3666=)
c.10951A>C (p.Arg3651=)
c.11104A>C (p.Arg3702=)
c.10009A>C (p.Arg3337=)
c.6193A>C (p.Arg2065=)
c.5746A>C (p.Arg1916=)
c.5083A>C (p.Arg1695=)
c.9598A>C (p.Arg3200=)
5g.13752167T>ACA359189780DNAH5c.10995A>T (p.Glu3665Asp)
c.10950A>T (p.Glu3650Asp)
c.11103A>T (p.Glu3701Asp)
c.10008A>T (p.Glu3336Asp)
c.6192A>T (p.Glu2064Asp)
c.5745A>T (p.Glu1915Asp)
c.5082A>T (p.Glu1694Asp)
c.9597A>T (p.Glu3199Asp)
5g.13752167T>CCA443248618DNAH5c.10995A>G (p.Glu3665=)
c.10950A>G (p.Glu3650=)
c.11103A>G (p.Glu3701=)
c.10008A>G (p.Glu3336=)
c.6192A>G (p.Glu2064=)
c.5745A>G (p.Glu1915=)
c.5082A>G (p.Glu1694=)
c.9597A>G (p.Glu3199=)
5g.13752167T>GCA359189782DNAH5c.10995A>C (p.Glu3665Asp)
c.10950A>C (p.Glu3650Asp)
c.11103A>C (p.Glu3701Asp)
c.10008A>C (p.Glu3336Asp)
c.6192A>C (p.Glu2064Asp)
c.5745A>C (p.Glu1915Asp)
c.5082A>C (p.Glu1694Asp)
c.9597A>C (p.Glu3199Asp)
5g.13752168T>ACA359189783DNAH5c.10994A>T (p.Glu3665Val)
c.10949A>T (p.Glu3650Val)
c.11102A>T (p.Glu3701Val)
c.10007A>T (p.Glu3336Val)
c.6191A>T (p.Glu2064Val)
c.5744A>T (p.Glu1915Val)
c.5081A>T (p.Glu1694Val)
c.9596A>T (p.Glu3199Val)
5g.13752168T>CCA359189785DNAH5c.10994A>G (p.Glu3665Gly)
c.10949A>G (p.Glu3650Gly)
c.11102A>G (p.Glu3701Gly)
c.10007A>G (p.Glu3336Gly)
c.6191A>G (p.Glu2064Gly)
c.5744A>G (p.Glu1915Gly)
c.5081A>G (p.Glu1694Gly)
c.9596A>G (p.Glu3199Gly)
5g.13752168T>GCA359189787DNAH5c.10994A>C (p.Glu3665Ala)
c.10949A>C (p.Glu3650Ala)
c.11102A>C (p.Glu3701Ala)
c.10007A>C (p.Glu3336Ala)
c.6191A>C (p.Glu2064Ala)
c.5744A>C (p.Glu1915Ala)
c.5081A>C (p.Glu1694Ala)
c.9596A>C (p.Glu3199Ala)
 gnomAD v4
5g.13752169C>ACA359189789DNAH5c.10993G>T (p.Glu3665Ter)
c.10948G>T (p.Glu3650Ter)
c.11101G>T (p.Glu3701Ter)
c.10006G>T (p.Glu3336Ter)
c.6190G>T (p.Glu2064Ter)
c.5743G>T (p.Glu1915Ter)
c.5080G>T (p.Glu1694Ter)
c.9595G>T (p.Glu3199Ter)
5g.13752169C>GCA359189792DNAH5c.10993G>C (p.Glu3665Gln)
c.10948G>C (p.Glu3650Gln)
c.11101G>C (p.Glu3701Gln)
c.10006G>C (p.Glu3336Gln)
c.6190G>C (p.Glu2064Gln)
c.5743G>C (p.Glu1915Gln)
c.5080G>C (p.Glu1694Gln)
c.9595G>C (p.Glu3199Gln)
5g.13752169C>TCA359189790DNAH5c.10993G>A (p.Glu3665Lys)
c.10948G>A (p.Glu3650Lys)
c.11101G>A (p.Glu3701Lys)
c.10006G>A (p.Glu3336Lys)
c.6190G>A (p.Glu2064Lys)
c.5743G>A (p.Glu1915Lys)
c.5080G>A (p.Glu1694Lys)
c.9595G>A (p.Glu3199Lys)
5g.13752170C>ACA359189795DNAH5c.10992G>T (p.Leu3664Phe)
c.10947G>T (p.Leu3649Phe)
c.11100G>T (p.Leu3700Phe)
c.10005G>T (p.Leu3335Phe)
c.6189G>T (p.Leu2063Phe)
c.5742G>T (p.Leu1914Phe)
c.5079G>T (p.Leu1693Phe)
c.9594G>T (p.Leu3198Phe)
5g.13752170C=CA1528422927DNAH5c.10992G= (p.Leu3664=)
c.10947G= (p.Leu3649=)
c.11100G= (p.Leu3700=)
c.10005G= (p.Leu3335=)
c.6189G= (p.Leu2063=)
c.5742G= (p.Leu1914=)
c.5079G= (p.Leu1693=)
c.9594G= (p.Leu3198=)
5g.13752170C>GCA359189798DNAH5c.10992G>C (p.Leu3664Phe)
c.10947G>C (p.Leu3649Phe)
c.11100G>C (p.Leu3700Phe)
c.10005G>C (p.Leu3335Phe)
c.6189G>C (p.Leu2063Phe)
c.5742G>C (p.Leu1914Phe)
c.5079G>C (p.Leu1693Phe)
c.9594G>C (p.Leu3198Phe)
5g.13752170C>TCA3202086DNAH5c.10992G>A (p.Leu3664=)
c.10947G>A (p.Leu3649=)
c.11100G>A (p.Leu3700=)
c.10005G>A (p.Leu3335=)
c.6189G>A (p.Leu2063=)
c.5742G>A (p.Leu1914=)
c.5079G>A (p.Leu1693=)
c.9594G>A (p.Leu3198=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13752171A>CCA359189799DNAH5c.10991T>G (p.Leu3664Trp)
c.10946T>G (p.Leu3649Trp)
c.11099T>G (p.Leu3700Trp)
c.10004T>G (p.Leu3335Trp)
c.6188T>G (p.Leu2063Trp)
c.5741T>G (p.Leu1914Trp)
c.5078T>G (p.Leu1693Trp)
c.9593T>G (p.Leu3198Trp)
5g.13752171A>GCA359189801DNAH5c.10991T>C (p.Leu3664Ser)
c.10946T>C (p.Leu3649Ser)
c.11099T>C (p.Leu3700Ser)
c.10004T>C (p.Leu3335Ser)
c.6188T>C (p.Leu2063Ser)
c.5741T>C (p.Leu1914Ser)
c.5078T>C (p.Leu1693Ser)
c.9593T>C (p.Leu3198Ser)
5g.13752171A>TCA359189803DNAH5c.10991T>A (p.Leu3664Ter)
c.10946T>A (p.Leu3649Ter)
c.11099T>A (p.Leu3700Ter)
c.10004T>A (p.Leu3335Ter)
c.6188T>A (p.Leu2063Ter)
c.5741T>A (p.Leu1914Ter)
c.5078T>A (p.Leu1693Ter)
c.9593T>A (p.Leu3198Ter)
5g.13752172A>CCA359189805DNAH5c.10990T>G (p.Leu3664Val)
c.10945T>G (p.Leu3649Val)
c.11098T>G (p.Leu3700Val)
c.10003T>G (p.Leu3335Val)
c.6187T>G (p.Leu2063Val)
c.5740T>G (p.Leu1914Val)
c.5077T>G (p.Leu1693Val)
c.9592T>G (p.Leu3198Val)
5g.13752172A>GCA443248624DNAH5c.10990T>C (p.Leu3664=)
c.10945T>C (p.Leu3649=)
c.11098T>C (p.Leu3700=)
c.10003T>C (p.Leu3335=)
c.6187T>C (p.Leu2063=)
c.5740T>C (p.Leu1914=)
c.5077T>C (p.Leu1693=)
c.9592T>C (p.Leu3198=)
5g.13752172A>TCA359189807DNAH5c.10990T>A (p.Leu3664Met)
c.10945T>A (p.Leu3649Met)
c.11098T>A (p.Leu3700Met)
c.10003T>A (p.Leu3335Met)
c.6187T>A (p.Leu2063Met)
c.5740T>A (p.Leu1914Met)
c.5077T>A (p.Leu1693Met)
c.9592T>A (p.Leu3198Met)
5g.13752173A>CCA443248626DNAH5c.10989T>G (p.Val3663=)
c.10944T>G (p.Val3648=)
c.11097T>G (p.Val3699=)
c.10002T>G (p.Val3334=)
c.6186T>G (p.Val2062=)
c.5739T>G (p.Val1913=)
c.5076T>G (p.Val1692=)
c.9591T>G (p.Val3197=)
5g.13752173A>GCA443248628DNAH5c.10989T>C (p.Val3663=)
c.10944T>C (p.Val3648=)
c.11097T>C (p.Val3699=)
c.10002T>C (p.Val3334=)
c.6186T>C (p.Val2062=)
c.5739T>C (p.Val1913=)
c.5076T>C (p.Val1692=)
c.9591T>C (p.Val3197=)
5g.13752173A>TCA443248630DNAH5c.10989T>A (p.Val3663=)
c.10944T>A (p.Val3648=)
c.11097T>A (p.Val3699=)
c.10002T>A (p.Val3334=)
c.6186T>A (p.Val2062=)
c.5739T>A (p.Val1913=)
c.5076T>A (p.Val1692=)
c.9591T>A (p.Val3197=)
5g.13752174A>CCA359189813DNAH5c.10988T>G (p.Val3663Gly)
c.10943T>G (p.Val3648Gly)
c.11096T>G (p.Val3699Gly)
c.10001T>G (p.Val3334Gly)
c.6185T>G (p.Val2062Gly)
c.5738T>G (p.Val1913Gly)
c.5075T>G (p.Val1692Gly)
c.9590T>G (p.Val3197Gly)
5g.13752174A>GCA359189815DNAH5c.10988T>C (p.Val3663Ala)
c.10943T>C (p.Val3648Ala)
c.11096T>C (p.Val3699Ala)
c.10001T>C (p.Val3334Ala)
c.6185T>C (p.Val2062Ala)
c.5738T>C (p.Val1913Ala)
c.5075T>C (p.Val1692Ala)
c.9590T>C (p.Val3197Ala)
5g.13752174A>TCA359189818DNAH5c.10988T>A (p.Val3663Asp)
c.10943T>A (p.Val3648Asp)
c.11096T>A (p.Val3699Asp)
c.10001T>A (p.Val3334Asp)
c.6185T>A (p.Val2062Asp)
c.5738T>A (p.Val1913Asp)
c.5075T>A (p.Val1692Asp)
c.9590T>A (p.Val3197Asp)
5g.13752175C>ACA359189822DNAH5c.10987G>T (p.Val3663Phe)
c.10942G>T (p.Val3648Phe)
c.11095G>T (p.Val3699Phe)
c.10000G>T (p.Val3334Phe)
c.6184G>T (p.Val2062Phe)
c.5737G>T (p.Val1913Phe)
c.5074G>T (p.Val1692Phe)
c.9589G>T (p.Val3197Phe)
5g.13752175C>GCA359189825DNAH5c.10987G>C (p.Val3663Leu)
c.10942G>C (p.Val3648Leu)
c.11095G>C (p.Val3699Leu)
c.10000G>C (p.Val3334Leu)
c.6184G>C (p.Val2062Leu)
c.5737G>C (p.Val1913Leu)
c.5074G>C (p.Val1692Leu)
c.9589G>C (p.Val3197Leu)
5g.13752175C>TCA359189827DNAH5c.10987G>A (p.Val3663Ile)
c.10942G>A (p.Val3648Ile)
c.11095G>A (p.Val3699Ile)
c.10000G>A (p.Val3334Ile)
c.6184G>A (p.Val2062Ile)
c.5737G>A (p.Val1913Ile)
c.5074G>A (p.Val1692Ile)
c.9589G>A (p.Val3197Ile)
 gnomAD v4
5g.13752176A=CA1528422928DNAH5c.10986T= (p.Asn3662=)
c.10941T= (p.Asn3647=)
c.11094T= (p.Asn3698=)
c.9999T= (p.Asn3333=)
c.6183T= (p.Asn2061=)
c.5736T= (p.Asn1912=)
c.5073T= (p.Asn1691=)
c.9588T= (p.Asn3196=)
5g.13752176A>CCA359189834DNAH5c.10986T>G (p.Asn3662Lys)
c.10941T>G (p.Asn3647Lys)
c.11094T>G (p.Asn3698Lys)
c.9999T>G (p.Asn3333Lys)
c.6183T>G (p.Asn2061Lys)
c.5736T>G (p.Asn1912Lys)
c.5073T>G (p.Asn1691Lys)
c.9588T>G (p.Asn3196Lys)
5g.13752176A>GCA443248633DNAH5c.10986T>C (p.Asn3662=)
c.10941T>C (p.Asn3647=)
c.11094T>C (p.Asn3698=)
c.9999T>C (p.Asn3333=)
c.6183T>C (p.Asn2061=)
c.5736T>C (p.Asn1912=)
c.5073T>C (p.Asn1691=)
c.9588T>C (p.Asn3196=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13752176A>TCA359189831DNAH5c.10986T>A (p.Asn3662Lys)
c.10941T>A (p.Asn3647Lys)
c.11094T>A (p.Asn3698Lys)
c.9999T>A (p.Asn3333Lys)
c.6183T>A (p.Asn2061Lys)
c.5736T>A (p.Asn1912Lys)
c.5073T>A (p.Asn1691Lys)
c.9588T>A (p.Asn3196Lys)
5g.13752177T>ACA359189836DNAH5c.10985A>T (p.Asn3662Ile)
c.10940A>T (p.Asn3647Ile)
c.11093A>T (p.Asn3698Ile)
c.9998A>T (p.Asn3333Ile)
c.6182A>T (p.Asn2061Ile)
c.5735A>T (p.Asn1912Ile)
c.5072A>T (p.Asn1691Ile)
c.9587A>T (p.Asn3196Ile)
5g.13752177T>CCA359189866DNAH5c.10985A>G (p.Asn3662Ser)
c.10940A>G (p.Asn3647Ser)
c.11093A>G (p.Asn3698Ser)
c.9998A>G (p.Asn3333Ser)
c.6182A>G (p.Asn2061Ser)
c.5735A>G (p.Asn1912Ser)
c.5072A>G (p.Asn1691Ser)
c.9587A>G (p.Asn3196Ser)
 dbSNP gnomAD v2 gnomAD v4
5g.13752177T>GCA359189869DNAH5c.10985A>C (p.Asn3662Thr)
c.10940A>C (p.Asn3647Thr)
c.11093A>C (p.Asn3698Thr)
c.9998A>C (p.Asn3333Thr)
c.6182A>C (p.Asn2061Thr)
c.5735A>C (p.Asn1912Thr)
c.5072A>C (p.Asn1691Thr)
c.9587A>C (p.Asn3196Thr)
5g.13752177T=CA1528422929DNAH5c.10985A= (p.Asn3662=)
c.10940A= (p.Asn3647=)
c.11093A= (p.Asn3698=)
c.9998A= (p.Asn3333=)
c.6182A= (p.Asn2061=)
c.5735A= (p.Asn1912=)
c.5072A= (p.Asn1691=)
c.9587A= (p.Asn3196=)
5g.13752178T>ACA359189872DNAH5c.10984A>T (p.Asn3662Tyr)
c.10939A>T (p.Asn3647Tyr)
c.11092A>T (p.Asn3698Tyr)
c.9997A>T (p.Asn3333Tyr)
c.6181A>T (p.Asn2061Tyr)
c.5734A>T (p.Asn1912Tyr)
c.5071A>T (p.Asn1691Tyr)
c.9586A>T (p.Asn3196Tyr)
5g.13752178T>CCA359189873DNAH5c.10984A>G (p.Asn3662Asp)
c.10939A>G (p.Asn3647Asp)
c.11092A>G (p.Asn3698Asp)
c.9997A>G (p.Asn3333Asp)
c.6181A>G (p.Asn2061Asp)
c.5734A>G (p.Asn1912Asp)
c.5071A>G (p.Asn1691Asp)
c.9586A>G (p.Asn3196Asp)
 dbSNP gnomAD v4
5g.13752178T>GCA359189876DNAH5c.10984A>C (p.Asn3662His)
c.10939A>C (p.Asn3647His)
c.11092A>C (p.Asn3698His)
c.9997A>C (p.Asn3333His)
c.6181A>C (p.Asn2061His)
c.5734A>C (p.Asn1912His)
c.5071A>C (p.Asn1691His)
c.9586A>C (p.Asn3196His)
5g.13752178T=CA1528422930DNAH5c.10984A= (p.Asn3662=)
c.10939A= (p.Asn3647=)
c.11092A= (p.Asn3698=)
c.9997A= (p.Asn3333=)
c.6181A= (p.Asn2061=)
c.5734A= (p.Asn1912=)
c.5071A= (p.Asn1691=)
c.9586A= (p.Asn3196=)
5g.13752179A=CA1528422931DNAH5c.10983T= (p.Asp3661=)
c.10938T= (p.Asp3646=)
c.11091T= (p.Asp3697=)
c.9996T= (p.Asp3332=)
c.6180T= (p.Asp2060=)
c.5733T= (p.Asp1911=)
c.5070T= (p.Asp1690=)
c.9585T= (p.Asp3195=)
5g.13752179A>CCA359189880DNAH5c.10983T>G (p.Asp3661Glu)
c.10938T>G (p.Asp3646Glu)
c.11091T>G (p.Asp3697Glu)
c.9996T>G (p.Asp3332Glu)
c.6180T>G (p.Asp2060Glu)
c.5733T>G (p.Asp1911Glu)
c.5070T>G (p.Asp1690Glu)
c.9585T>G (p.Asp3195Glu)
5g.13752179A>GCA443248635DNAH5c.10983T>C (p.Asp3661=)
c.10938T>C (p.Asp3646=)
c.11091T>C (p.Asp3697=)
c.9996T>C (p.Asp3332=)
c.6180T>C (p.Asp2060=)
c.5733T>C (p.Asp1911=)
c.5070T>C (p.Asp1690=)
c.9585T>C (p.Asp3195=)
 ClinVar dbSNP gnomAD v4
5g.13752179A>TCA10622655DNAH5c.10983T>A (p.Asp3661Glu)
c.10938T>A (p.Asp3646Glu)
c.11091T>A (p.Asp3697Glu)
c.9996T>A (p.Asp3332Glu)
c.6180T>A (p.Asp2060Glu)
c.5733T>A (p.Asp1911Glu)
c.5070T>A (p.Asp1690Glu)
c.9585T>A (p.Asp3195Glu)
 ClinVar dbSNP gnomAD v4
5g.13752180T>ACA359189887DNAH5c.10982A>T (p.Asp3661Val)
c.10937A>T (p.Asp3646Val)
c.11090A>T (p.Asp3697Val)
c.9995A>T (p.Asp3332Val)
c.6179A>T (p.Asp2060Val)
c.5732A>T (p.Asp1911Val)
c.5069A>T (p.Asp1690Val)
c.9584A>T (p.Asp3195Val)
5g.13752180T>CCA359189890DNAH5c.10982A>G (p.Asp3661Gly)
c.10937A>G (p.Asp3646Gly)
c.11090A>G (p.Asp3697Gly)
c.9995A>G (p.Asp3332Gly)
c.6179A>G (p.Asp2060Gly)
c.5732A>G (p.Asp1911Gly)
c.5069A>G (p.Asp1690Gly)
c.9584A>G (p.Asp3195Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13752180T>GCA359189893DNAH5c.10982A>C (p.Asp3661Ala)
c.10937A>C (p.Asp3646Ala)
c.11090A>C (p.Asp3697Ala)
c.9995A>C (p.Asp3332Ala)
c.6179A>C (p.Asp2060Ala)
c.5732A>C (p.Asp1911Ala)
c.5069A>C (p.Asp1690Ala)
c.9584A>C (p.Asp3195Ala)
5g.13752180T=CA1528422932DNAH5c.10982A= (p.Asp3661=)
c.10937A= (p.Asp3646=)
c.11090A= (p.Asp3697=)
c.9995A= (p.Asp3332=)
c.6179A= (p.Asp2060=)
c.5732A= (p.Asp1911=)
c.5069A= (p.Asp1690=)
c.9584A= (p.Asp3195=)
5g.13752181C>ACA359189899DNAH5c.10981G>T (p.Asp3661Tyr)
c.10936G>T (p.Asp3646Tyr)
c.11089G>T (p.Asp3697Tyr)
c.9994G>T (p.Asp3332Tyr)
c.6178G>T (p.Asp2060Tyr)
c.5731G>T (p.Asp1911Tyr)
c.5068G>T (p.Asp1690Tyr)
c.9583G>T (p.Asp3195Tyr)
5g.13752181C=CA1528422933DNAH5c.10981G= (p.Asp3661=)
c.10936G= (p.Asp3646=)
c.11089G= (p.Asp3697=)
c.9994G= (p.Asp3332=)
c.6178G= (p.Asp2060=)
c.5731G= (p.Asp1911=)
c.5068G= (p.Asp1690=)
c.9583G= (p.Asp3195=)
5g.13752181C>GCA359189901DNAH5c.10981G>C (p.Asp3661His)
c.10936G>C (p.Asp3646His)
c.11089G>C (p.Asp3697His)
c.9994G>C (p.Asp3332His)
c.6178G>C (p.Asp2060His)
c.5731G>C (p.Asp1911His)
c.5068G>C (p.Asp1690His)
c.9583G>C (p.Asp3195His)
 COSMIC
5g.13752181C>TCA359189896DNAH5c.10981G>A (p.Asp3661Asn)
c.10936G>A (p.Asp3646Asn)
c.11089G>A (p.Asp3697Asn)
c.9994G>A (p.Asp3332Asn)
c.6178G>A (p.Asp2060Asn)
c.5731G>A (p.Asp1911Asn)
c.5068G>A (p.Asp1690Asn)
c.9583G>A (p.Asp3195Asn)
 dbSNP gnomAD v2 gnomAD v4
5g.13752182T>ACA443248636DNAH5c.10980A>T (p.Leu3660=)
c.10935A>T (p.Leu3645=)
c.11088A>T (p.Leu3696=)
c.9993A>T (p.Leu3331=)
c.6177A>T (p.Leu2059=)
c.5730A>T (p.Leu1910=)
c.5067A>T (p.Leu1689=)
c.9582A>T (p.Leu3194=)
5g.13752182T>CCA443248637DNAH5c.10980A>G (p.Leu3660=)
c.10935A>G (p.Leu3645=)
c.11088A>G (p.Leu3696=)
c.9993A>G (p.Leu3331=)
c.6177A>G (p.Leu2059=)
c.5730A>G (p.Leu1910=)
c.5067A>G (p.Leu1689=)
c.9582A>G (p.Leu3194=)
5g.13752182T>GCA443248638DNAH5c.10980A>C (p.Leu3660=)
c.10935A>C (p.Leu3645=)
c.11088A>C (p.Leu3696=)
c.9993A>C (p.Leu3331=)
c.6177A>C (p.Leu2059=)
c.5730A>C (p.Leu1910=)
c.5067A>C (p.Leu1689=)
c.9582A>C (p.Leu3194=)
5g.13752183A>CCA359189902DNAH5c.10979T>G (p.Leu3660Arg)
c.10934T>G (p.Leu3645Arg)
c.11087T>G (p.Leu3696Arg)
c.9992T>G (p.Leu3331Arg)
c.6176T>G (p.Leu2059Arg)
c.5729T>G (p.Leu1910Arg)
c.5066T>G (p.Leu1689Arg)
c.9581T>G (p.Leu3194Arg)
5g.13752183A>GCA359189903DNAH5c.10979T>C (p.Leu3660Pro)
c.10934T>C (p.Leu3645Pro)
c.11087T>C (p.Leu3696Pro)
c.9992T>C (p.Leu3331Pro)
c.6176T>C (p.Leu2059Pro)
c.5729T>C (p.Leu1910Pro)
c.5066T>C (p.Leu1689Pro)
c.9581T>C (p.Leu3194Pro)
5g.13752183A>TCA359189906DNAH5c.10979T>A (p.Leu3660Gln)
c.10934T>A (p.Leu3645Gln)
c.11087T>A (p.Leu3696Gln)
c.9992T>A (p.Leu3331Gln)
c.6176T>A (p.Leu2059Gln)
c.5729T>A (p.Leu1910Gln)
c.5066T>A (p.Leu1689Gln)
c.9581T>A (p.Leu3194Gln)
5g.13752184G>ACA443248640DNAH5c.10978C>T (p.Leu3660=)
c.10933C>T (p.Leu3645=)
c.11086C>T (p.Leu3696=)
c.9991C>T (p.Leu3331=)
c.6175C>T (p.Leu2059=)
c.5728C>T (p.Leu1910=)
c.5065C>T (p.Leu1689=)
c.9580C>T (p.Leu3194=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13752184G>CCA359189909DNAH5c.10978C>G (p.Leu3660Val)
c.10933C>G (p.Leu3645Val)
c.11086C>G (p.Leu3696Val)
c.9991C>G (p.Leu3331Val)
c.6175C>G (p.Leu2059Val)
c.5728C>G (p.Leu1910Val)
c.5065C>G (p.Leu1689Val)
c.9580C>G (p.Leu3194Val)
5g.13752184G=CA1528422934DNAH5c.10978C= (p.Leu3660=)
c.10933C= (p.Leu3645=)
c.11086C= (p.Leu3696=)
c.9991C= (p.Leu3331=)
c.6175C= (p.Leu2059=)
c.5728C= (p.Leu1910=)
c.5065C= (p.Leu1689=)
c.9580C= (p.Leu3194=)
5g.13752184G>TCA359189912DNAH5c.10978C>A (p.Leu3660Ile)
c.10933C>A (p.Leu3645Ile)
c.11086C>A (p.Leu3696Ile)
c.9991C>A (p.Leu3331Ile)
c.6175C>A (p.Leu2059Ile)
c.5728C>A (p.Leu1910Ile)
c.5065C>A (p.Leu1689Ile)
c.9580C>A (p.Leu3194Ile)
5g.13752185T>ACA443248641DNAH5c.10977A>T (p.Ala3659=)
c.10932A>T (p.Ala3644=)
c.11085A>T (p.Ala3695=)
c.9990A>T (p.Ala3330=)
c.6174A>T (p.Ala2058=)
c.5727A>T (p.Ala1909=)
c.5064A>T (p.Ala1688=)
c.9579A>T (p.Ala3193=)
5g.13752185T>CCA443248643DNAH5c.10977A>G (p.Ala3659=)
c.10932A>G (p.Ala3644=)
c.11085A>G (p.Ala3695=)
c.9990A>G (p.Ala3330=)
c.6174A>G (p.Ala2058=)
c.5727A>G (p.Ala1909=)
c.5064A>G (p.Ala1688=)
c.9579A>G (p.Ala3193=)
 ClinVar dbSNP gnomAD v4
5g.13752185T>GCA443248644DNAH5c.10977A>C (p.Ala3659=)
c.10932A>C (p.Ala3644=)
c.11085A>C (p.Ala3695=)
c.9990A>C (p.Ala3330=)
c.6174A>C (p.Ala2058=)
c.5727A>C (p.Ala1909=)
c.5064A>C (p.Ala1688=)
c.9579A>C (p.Ala3193=)
5g.13752186G>ACA359189916DNAH5c.10976C>T (p.Ala3659Val)
c.10931C>T (p.Ala3644Val)
c.11084C>T (p.Ala3695Val)
c.9989C>T (p.Ala3330Val)
c.6173C>T (p.Ala2058Val)
c.5726C>T (p.Ala1909Val)
c.5063C>T (p.Ala1688Val)
c.9578C>T (p.Ala3193Val)
5g.13752186G>CCA359189919DNAH5c.10976C>G (p.Ala3659Gly)
c.10931C>G (p.Ala3644Gly)
c.11084C>G (p.Ala3695Gly)
c.9989C>G (p.Ala3330Gly)
c.6173C>G (p.Ala2058Gly)
c.5726C>G (p.Ala1909Gly)
c.5063C>G (p.Ala1688Gly)
c.9578C>G (p.Ala3193Gly)
5g.13752186G=CA1528422935DNAH5c.10976C= (p.Ala3659=)
c.10931C= (p.Ala3644=)
c.11084C= (p.Ala3695=)
c.9989C= (p.Ala3330=)
c.6173C= (p.Ala2058=)
c.5726C= (p.Ala1909=)
c.5063C= (p.Ala1688=)
c.9578C= (p.Ala3193=)
5g.13752186G>TCA113917711DNAH5c.10976C>A (p.Ala3659Glu)
c.10931C>A (p.Ala3644Glu)
c.11084C>A (p.Ala3695Glu)
c.9989C>A (p.Ala3330Glu)
c.6173C>A (p.Ala2058Glu)
c.5726C>A (p.Ala1909Glu)
c.5063C>A (p.Ala1688Glu)
c.9578C>A (p.Ala3193Glu)
 dbSNP gnomAD v3 gnomAD v4
5g.13752187C>ACA359189935DNAH5c.10975G>T (p.Ala3659Ser)
c.10930G>T (p.Ala3644Ser)
c.11083G>T (p.Ala3695Ser)
c.9988G>T (p.Ala3330Ser)
c.6172G>T (p.Ala2058Ser)
c.5725G>T (p.Ala1909Ser)
c.5062G>T (p.Ala1688Ser)
c.9577G>T (p.Ala3193Ser)
5g.13752187C>GCA359189942DNAH5c.10975G>C (p.Ala3659Pro)
c.10930G>C (p.Ala3644Pro)
c.11083G>C (p.Ala3695Pro)
c.9988G>C (p.Ala3330Pro)
c.6172G>C (p.Ala2058Pro)
c.5725G>C (p.Ala1909Pro)
c.5062G>C (p.Ala1688Pro)
c.9577G>C (p.Ala3193Pro)
5g.13752187C>TCA359189944DNAH5c.10975G>A (p.Ala3659Thr)
c.10930G>A (p.Ala3644Thr)
c.11083G>A (p.Ala3695Thr)
c.9988G>A (p.Ala3330Thr)
c.6172G>A (p.Ala2058Thr)
c.5725G>A (p.Ala1909Thr)
c.5062G>A (p.Ala1688Thr)
c.9577G>A (p.Ala3193Thr)
5g.13752188T>ACA443248646DNAH5c.10974A>T (p.Pro3658=)
c.10929A>T (p.Pro3643=)
c.11082A>T (p.Pro3694=)
c.9987A>T (p.Pro3329=)
c.6171A>T (p.Pro2057=)
c.5724A>T (p.Pro1908=)
c.5061A>T (p.Pro1687=)
c.9576A>T (p.Pro3192=)
5g.13752188T>CCA3202087DNAH5c.10974A>G (p.Pro3658=)
c.10929A>G (p.Pro3643=)
c.11082A>G (p.Pro3694=)
c.9987A>G (p.Pro3329=)
c.6171A>G (p.Pro2057=)
c.5724A>G (p.Pro1908=)
c.5061A>G (p.Pro1687=)
c.9576A>G (p.Pro3192=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13752188T>GCA443248648DNAH5c.10974A>C (p.Pro3658=)
c.10929A>C (p.Pro3643=)
c.11082A>C (p.Pro3694=)
c.9987A>C (p.Pro3329=)
c.6171A>C (p.Pro2057=)
c.5724A>C (p.Pro1908=)
c.5061A>C (p.Pro1687=)
c.9576A>C (p.Pro3192=)
5g.13752188T=CA1528422936DNAH5c.10974A= (p.Pro3658=)
c.10929A= (p.Pro3643=)
c.11082A= (p.Pro3694=)
c.9987A= (p.Pro3329=)
c.6171A= (p.Pro2057=)
c.5724A= (p.Pro1908=)
c.5061A= (p.Pro1687=)
c.9576A= (p.Pro3192=)
5g.13752189G>ACA359189953DNAH5c.10973C>T (p.Pro3658Leu)
c.10928C>T (p.Pro3643Leu)
c.11081C>T (p.Pro3694Leu)
c.9986C>T (p.Pro3329Leu)
c.6170C>T (p.Pro2057Leu)
c.5723C>T (p.Pro1908Leu)
c.5060C>T (p.Pro1687Leu)
c.9575C>T (p.Pro3192Leu)
 ClinVar
5g.13752189G>CCA359189949DNAH5c.10973C>G (p.Pro3658Arg)
c.10928C>G (p.Pro3643Arg)
c.11081C>G (p.Pro3694Arg)
c.9986C>G (p.Pro3329Arg)
c.6170C>G (p.Pro2057Arg)
c.5723C>G (p.Pro1908Arg)
c.5060C>G (p.Pro1687Arg)
c.9575C>G (p.Pro3192Arg)
 gnomAD v4
5g.13752189G>TCA359189951DNAH5c.10973C>A (p.Pro3658Gln)
c.10928C>A (p.Pro3643Gln)
c.11081C>A (p.Pro3694Gln)
c.9986C>A (p.Pro3329Gln)
c.6170C>A (p.Pro2057Gln)
c.5723C>A (p.Pro1908Gln)
c.5060C>A (p.Pro1687Gln)
c.9575C>A (p.Pro3192Gln)
5g.13752190G>ACA359189956DNAH5c.10972C>T (p.Pro3658Ser)
c.10927C>T (p.Pro3643Ser)
c.11080C>T (p.Pro3694Ser)
c.9985C>T (p.Pro3329Ser)
c.6169C>T (p.Pro2057Ser)
c.5722C>T (p.Pro1908Ser)
c.5059C>T (p.Pro1687Ser)
c.9574C>T (p.Pro3192Ser)
5g.13752190G>CCA113917715DNAH5c.10972C>G (p.Pro3658Ala)
c.10927C>G (p.Pro3643Ala)
c.11080C>G (p.Pro3694Ala)
c.9985C>G (p.Pro3329Ala)
c.6169C>G (p.Pro2057Ala)
c.5722C>G (p.Pro1908Ala)
c.5059C>G (p.Pro1687Ala)
c.9574C>G (p.Pro3192Ala)
 dbSNP
5g.13752190G=CA1528422937DNAH5c.10972C= (p.Pro3658=)
c.10927C= (p.Pro3643=)
c.11080C= (p.Pro3694=)
c.9985C= (p.Pro3329=)
c.6169C= (p.Pro2057=)
c.5722C= (p.Pro1908=)
c.5059C= (p.Pro1687=)
c.9574C= (p.Pro3192=)
5g.13752190G>TCA359189959DNAH5c.10972C>A (p.Pro3658Thr)
c.10927C>A (p.Pro3643Thr)
c.11080C>A (p.Pro3694Thr)
c.9985C>A (p.Pro3329Thr)
c.6169C>A (p.Pro2057Thr)
c.5722C>A (p.Pro1908Thr)
c.5059C>A (p.Pro1687Thr)
c.9574C>A (p.Pro3192Thr)
5g.13752191A>CCA359189963DNAH5c.10971T>G (p.Asp3657Glu)
c.10926T>G (p.Asp3642Glu)
c.11079T>G (p.Asp3693Glu)
c.9984T>G (p.Asp3328Glu)
c.6168T>G (p.Asp2056Glu)
c.5721T>G (p.Asp1907Glu)
c.5058T>G (p.Asp1686Glu)
c.9573T>G (p.Asp3191Glu)
5g.13752191A>GCA443248650DNAH5c.10971T>C (p.Asp3657=)
c.10926T>C (p.Asp3642=)
c.11079T>C (p.Asp3693=)
c.9984T>C (p.Asp3328=)
c.6168T>C (p.Asp2056=)
c.5721T>C (p.Asp1907=)
c.5058T>C (p.Asp1686=)
c.9573T>C (p.Asp3191=)
5g.13752191A>TCA359189965DNAH5c.10971T>A (p.Asp3657Glu)
c.10926T>A (p.Asp3642Glu)
c.11079T>A (p.Asp3693Glu)
c.9984T>A (p.Asp3328Glu)
c.6168T>A (p.Asp2056Glu)
c.5721T>A (p.Asp1907Glu)
c.5058T>A (p.Asp1686Glu)
c.9573T>A (p.Asp3191Glu)
5g.13752192T>ACA359189968DNAH5c.10970A>T (p.Asp3657Val)
c.10925A>T (p.Asp3642Val)
c.11078A>T (p.Asp3693Val)
c.9983A>T (p.Asp3328Val)
c.6167A>T (p.Asp2056Val)
c.5720A>T (p.Asp1907Val)
c.5057A>T (p.Asp1686Val)
c.9572A>T (p.Asp3191Val)
5g.13752192T>CCA359189971DNAH5c.10970A>G (p.Asp3657Gly)
c.10925A>G (p.Asp3642Gly)
c.11078A>G (p.Asp3693Gly)
c.9983A>G (p.Asp3328Gly)
c.6167A>G (p.Asp2056Gly)
c.5720A>G (p.Asp1907Gly)
c.5057A>G (p.Asp1686Gly)
c.9572A>G (p.Asp3191Gly)
5g.13752192T>GCA359189974DNAH5c.10970A>C (p.Asp3657Ala)
c.10925A>C (p.Asp3642Ala)
c.11078A>C (p.Asp3693Ala)
c.9983A>C (p.Asp3328Ala)
c.6167A>C (p.Asp2056Ala)
c.5720A>C (p.Asp1907Ala)
c.5057A>C (p.Asp1686Ala)
c.9572A>C (p.Asp3191Ala)
5g.13752193C>ACA359189976DNAH5c.10969G>T (p.Asp3657Tyr)
c.10924G>T (p.Asp3642Tyr)
c.11077G>T (p.Asp3693Tyr)
c.9982G>T (p.Asp3328Tyr)
c.6166G>T (p.Asp2056Tyr)
c.5719G>T (p.Asp1907Tyr)
c.5056G>T (p.Asp1686Tyr)
c.9571G>T (p.Asp3191Tyr)
5g.13752193C>GCA359189978DNAH5c.10969G>C (p.Asp3657His)
c.10924G>C (p.Asp3642His)
c.11077G>C (p.Asp3693His)
c.9982G>C (p.Asp3328His)
c.6166G>C (p.Asp2056His)
c.5719G>C (p.Asp1907His)
c.5056G>C (p.Asp1686His)
c.9571G>C (p.Asp3191His)
5g.13752193C>TCA359189980DNAH5c.10969G>A (p.Asp3657Asn)
c.10924G>A (p.Asp3642Asn)
c.11077G>A (p.Asp3693Asn)
c.9982G>A (p.Asp3328Asn)
c.6166G>A (p.Asp2056Asn)
c.5719G>A (p.Asp1907Asn)
c.5056G>A (p.Asp1686Asn)
c.9571G>A (p.Asp3191Asn)
5g.13752194T>ACA443248655DNAH5c.10968A>T (p.Leu3656=)
c.10923A>T (p.Leu3641=)
c.11076A>T (p.Leu3692=)
c.9981A>T (p.Leu3327=)
c.6165A>T (p.Leu2055=)
c.5718A>T (p.Leu1906=)
c.5055A>T (p.Leu1685=)
c.9570A>T (p.Leu3190=)
 gnomAD v4
5g.13752194T>CCA3202088DNAH5c.10968A>G (p.Leu3656=)
c.10923A>G (p.Leu3641=)
c.11076A>G (p.Leu3692=)
c.9981A>G (p.Leu3327=)
c.6165A>G (p.Leu2055=)
c.5718A>G (p.Leu1906=)
c.5055A>G (p.Leu1685=)
c.9570A>G (p.Leu3190=)
 dbSNP ExAC gnomAD v4
5g.13752194T>GCA443248658DNAH5c.10968A>C (p.Leu3656=)
c.10923A>C (p.Leu3641=)
c.11076A>C (p.Leu3692=)
c.9981A>C (p.Leu3327=)
c.6165A>C (p.Leu2055=)
c.5718A>C (p.Leu1906=)
c.5055A>C (p.Leu1685=)
c.9570A>C (p.Leu3190=)
5g.13752194T=CA1528422938DNAH5c.10968A= (p.Leu3656=)
c.10923A= (p.Leu3641=)
c.11076A= (p.Leu3692=)
c.9981A= (p.Leu3327=)
c.6165A= (p.Leu2055=)
c.5718A= (p.Leu1906=)
c.5055A= (p.Leu1685=)
c.9570A= (p.Leu3190=)
5g.13752195A>CCA359189988DNAH5c.10967T>G (p.Leu3656Arg)
c.10922T>G (p.Leu3641Arg)
c.11075T>G (p.Leu3692Arg)
c.9980T>G (p.Leu3327Arg)
c.6164T>G (p.Leu2055Arg)
c.5717T>G (p.Leu1906Arg)
c.5054T>G (p.Leu1685Arg)
c.9569T>G (p.Leu3190Arg)
5g.13752195A>GCA359189986DNAH5c.10967T>C (p.Leu3656Pro)
c.10922T>C (p.Leu3641Pro)
c.11075T>C (p.Leu3692Pro)
c.9980T>C (p.Leu3327Pro)
c.6164T>C (p.Leu2055Pro)
c.5717T>C (p.Leu1906Pro)
c.5054T>C (p.Leu1685Pro)
c.9569T>C (p.Leu3190Pro)
5g.13752195A>TCA359189983DNAH5c.10967T>A (p.Leu3656Gln)
c.10922T>A (p.Leu3641Gln)
c.11075T>A (p.Leu3692Gln)
c.9980T>A (p.Leu3327Gln)
c.6164T>A (p.Leu2055Gln)
c.5717T>A (p.Leu1906Gln)
c.5054T>A (p.Leu1685Gln)
c.9569T>A (p.Leu3190Gln)
5g.13752196G>ACA443248662DNAH5c.10966C>T (p.Leu3656=)
c.10921C>T (p.Leu3641=)
c.11074C>T (p.Leu3692=)
c.9979C>T (p.Leu3327=)
c.6163C>T (p.Leu2055=)
c.5716C>T (p.Leu1906=)
c.5053C>T (p.Leu1685=)
c.9568C>T (p.Leu3190=)
5g.13752196G>CCA359189991DNAH5c.10966C>G (p.Leu3656Val)
c.10921C>G (p.Leu3641Val)
c.11074C>G (p.Leu3692Val)
c.9979C>G (p.Leu3327Val)
c.6163C>G (p.Leu2055Val)
c.5716C>G (p.Leu1906Val)
c.5053C>G (p.Leu1685Val)
c.9568C>G (p.Leu3190Val)
5g.13752196G>TCA359189994DNAH5c.10966C>A (p.Leu3656Ile)
c.10921C>A (p.Leu3641Ile)
c.11074C>A (p.Leu3692Ile)
c.9979C>A (p.Leu3327Ile)
c.6163C>A (p.Leu2055Ile)
c.5716C>A (p.Leu1906Ile)
c.5053C>A (p.Leu1685Ile)
c.9568C>A (p.Leu3190Ile)
5g.13752197T>ACA359189997DNAH5c.10965A>T (p.Glu3655Asp)
c.10920A>T (p.Glu3640Asp)
c.11073A>T (p.Glu3691Asp)
c.9978A>T (p.Glu3326Asp)
c.6162A>T (p.Glu2054Asp)
c.5715A>T (p.Glu1905Asp)
c.5052A>T (p.Glu1684Asp)
c.9567A>T (p.Glu3189Asp)
5g.13752197T>CCA443248666DNAH5c.10965A>G (p.Glu3655=)
c.10920A>G (p.Glu3640=)
c.11073A>G (p.Glu3691=)
c.9978A>G (p.Glu3326=)
c.6162A>G (p.Glu2054=)
c.5715A>G (p.Glu1905=)
c.5052A>G (p.Glu1684=)
c.9567A>G (p.Glu3189=)
 gnomAD v4
5g.13752197T>GCA359189999DNAH5c.10965A>C (p.Glu3655Asp)
c.10920A>C (p.Glu3640Asp)
c.11073A>C (p.Glu3691Asp)
c.9978A>C (p.Glu3326Asp)
c.6162A>C (p.Glu2054Asp)
c.5715A>C (p.Glu1905Asp)
c.5052A>C (p.Glu1684Asp)
c.9567A>C (p.Glu3189Asp)
5g.13752198T>ACA359190002DNAH5c.10964A>T (p.Glu3655Val)
c.10919A>T (p.Glu3640Val)
c.11072A>T (p.Glu3691Val)
c.9977A>T (p.Glu3326Val)
c.6161A>T (p.Glu2054Val)
c.5714A>T (p.Glu1905Val)
c.5051A>T (p.Glu1684Val)
c.9566A>T (p.Glu3189Val)
5g.13752198T>CCA359190005DNAH5c.10964A>G (p.Glu3655Gly)
c.10919A>G (p.Glu3640Gly)
c.11072A>G (p.Glu3691Gly)
c.9977A>G (p.Glu3326Gly)
c.6161A>G (p.Glu2054Gly)
c.5714A>G (p.Glu1905Gly)
c.5051A>G (p.Glu1684Gly)
c.9566A>G (p.Glu3189Gly)
5g.13752198T>GCA359190007DNAH5c.10964A>C (p.Glu3655Ala)
c.10919A>C (p.Glu3640Ala)
c.11072A>C (p.Glu3691Ala)
c.9977A>C (p.Glu3326Ala)
c.6161A>C (p.Glu2054Ala)
c.5714A>C (p.Glu1905Ala)
c.5051A>C (p.Glu1684Ala)
c.9566A>C (p.Glu3189Ala)
5g.13752199C>ACA359190011DNAH5c.10963G>T (p.Glu3655Ter)
c.10918G>T (p.Glu3640Ter)
c.11071G>T (p.Glu3691Ter)
c.9976G>T (p.Glu3326Ter)
c.6160G>T (p.Glu2054Ter)
c.5713G>T (p.Glu1905Ter)
c.5050G>T (p.Glu1684Ter)
c.9565G>T (p.Glu3189Ter)
 ClinVar
5g.13752199C>GCA359190014DNAH5c.10963G>C (p.Glu3655Gln)
c.10918G>C (p.Glu3640Gln)
c.11071G>C (p.Glu3691Gln)
c.9976G>C (p.Glu3326Gln)
c.6160G>C (p.Glu2054Gln)
c.5713G>C (p.Glu1905Gln)
c.5050G>C (p.Glu1684Gln)
c.9565G>C (p.Glu3189Gln)
5g.13752199C>TCA359190016DNAH5c.10963G>A (p.Glu3655Lys)
c.10918G>A (p.Glu3640Lys)
c.11071G>A (p.Glu3691Lys)
c.9976G>A (p.Glu3326Lys)
c.6160G>A (p.Glu2054Lys)
c.5713G>A (p.Glu1905Lys)
c.5050G>A (p.Glu1684Lys)
c.9565G>A (p.Glu3189Lys)
 COSMIC
5g.13752200C>ACA359190029DNAH5c.10962G>T (p.Glu3654Asp)
c.10917G>T (p.Glu3639Asp)
c.11070G>T (p.Glu3690Asp)
c.9975G>T (p.Glu3325Asp)
c.6159G>T (p.Glu2053Asp)
c.5712G>T (p.Glu1904Asp)
c.5049G>T (p.Glu1683Asp)
c.9564G>T (p.Glu3188Asp)
5g.13752200C=CA1528422939DNAH5c.10962G= (p.Glu3654=)
c.10917G= (p.Glu3639=)
c.11070G= (p.Glu3690=)
c.9975G= (p.Glu3325=)
c.6159G= (p.Glu2053=)
c.5712G= (p.Glu1904=)
c.5049G= (p.Glu1683=)
c.9564G= (p.Glu3188=)
5g.13752200C>GCA359190032DNAH5c.10962G>C (p.Glu3654Asp)
c.10917G>C (p.Glu3639Asp)
c.11070G>C (p.Glu3690Asp)
c.9975G>C (p.Glu3325Asp)
c.6159G>C (p.Glu2053Asp)
c.5712G>C (p.Glu1904Asp)
c.5049G>C (p.Glu1683Asp)
c.9564G>C (p.Glu3188Asp)
5g.13752200C>TCA443248670DNAH5c.10962G>A (p.Glu3654=)
c.10917G>A (p.Glu3639=)
c.11070G>A (p.Glu3690=)
c.9975G>A (p.Glu3325=)
c.6159G>A (p.Glu2053=)
c.5712G>A (p.Glu1904=)
c.5049G>A (p.Glu1683=)
c.9564G>A (p.Glu3188=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13752201T>ACA359190036DNAH5c.10961A>T (p.Glu3654Val)
c.10916A>T (p.Glu3639Val)
c.11069A>T (p.Glu3690Val)
c.9974A>T (p.Glu3325Val)
c.6158A>T (p.Glu2053Val)
c.5711A>T (p.Glu1904Val)
c.5048A>T (p.Glu1683Val)
c.9563A>T (p.Glu3188Val)
5g.13752201T>CCA359190038DNAH5c.10961A>G (p.Glu3654Gly)
c.10916A>G (p.Glu3639Gly)
c.11069A>G (p.Glu3690Gly)
c.9974A>G (p.Glu3325Gly)
c.6158A>G (p.Glu2053Gly)
c.5711A>G (p.Glu1904Gly)
c.5048A>G (p.Glu1683Gly)
c.9563A>G (p.Glu3188Gly)
5g.13752201T>GCA359190040DNAH5c.10961A>C (p.Glu3654Ala)
c.10916A>C (p.Glu3639Ala)
c.11069A>C (p.Glu3690Ala)
c.9974A>C (p.Glu3325Ala)
c.6158A>C (p.Glu2053Ala)
c.5711A>C (p.Glu1904Ala)
c.5048A>C (p.Glu1683Ala)
c.9563A>C (p.Glu3188Ala)
5g.13752202C>ACA359190045DNAH5c.10960G>T (p.Glu3654Ter)
c.10915G>T (p.Glu3639Ter)
c.11068G>T (p.Glu3690Ter)
c.9973G>T (p.Glu3325Ter)
c.6157G>T (p.Glu2053Ter)
c.5710G>T (p.Glu1904Ter)
c.5047G>T (p.Glu1683Ter)
c.9562G>T (p.Glu3188Ter)
5g.13752202C=CA1528422940DNAH5c.10960G= (p.Glu3654=)
c.10915G= (p.Glu3639=)
c.11068G= (p.Glu3690=)
c.9973G= (p.Glu3325=)
c.6157G= (p.Glu2053=)
c.5710G= (p.Glu1904=)
c.5047G= (p.Glu1683=)
c.9562G= (p.Glu3188=)
5g.13752202C>GCA3202089DNAH5c.10960G>C (p.Glu3654Gln)
c.10915G>C (p.Glu3639Gln)
c.11068G>C (p.Glu3690Gln)
c.9973G>C (p.Glu3325Gln)
c.6157G>C (p.Glu2053Gln)
c.5710G>C (p.Glu1904Gln)
c.5047G>C (p.Glu1683Gln)
c.9562G>C (p.Glu3188Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13752202C>TCA359190043DNAH5c.10960G>A (p.Glu3654Lys)
c.10915G>A (p.Glu3639Lys)
c.11068G>A (p.Glu3690Lys)
c.9973G>A (p.Glu3325Lys)
c.6157G>A (p.Glu2053Lys)
c.5710G>A (p.Glu1904Lys)
c.5047G>A (p.Glu1683Lys)
c.9562G>A (p.Glu3188Lys)
 dbSNP gnomAD v2 gnomAD v4
5g.13752203delCA913108275DNAH5c.10959del (p.Glu3654ArgfsTer3)
c.10914del (p.Glu3639ArgfsTer3)
c.11067del (p.Glu3690ArgfsTer3)
c.9972del (p.Glu3325ArgfsTer3)
c.6156del (p.Glu2053ArgfsTer3)
c.5709del (p.Glu1904ArgfsTer3)
c.5046del (p.Glu1683ArgfsTer3)
c.9561del (p.Glu3188ArgfsTer3)
5g.13752203T>ACA443248674DNAH5c.10959A>T (p.Gly3653=)
c.10914A>T (p.Gly3638=)
c.11067A>T (p.Gly3689=)
c.9972A>T (p.Gly3324=)
c.6156A>T (p.Gly2052=)
c.5709A>T (p.Gly1903=)
c.5046A>T (p.Gly1682=)
c.9561A>T (p.Gly3187=)
5g.13752203T>CCA443248675DNAH5c.10959A>G (p.Gly3653=)
c.10914A>G (p.Gly3638=)
c.11067A>G (p.Gly3689=)
c.9972A>G (p.Gly3324=)
c.6156A>G (p.Gly2052=)
c.5709A>G (p.Gly1903=)
c.5046A>G (p.Gly1682=)
c.9561A>G (p.Gly3187=)
5g.13752203T>GCA443248676DNAH5c.10959A>C (p.Gly3653=)
c.10914A>C (p.Gly3638=)
c.11067A>C (p.Gly3689=)
c.9972A>C (p.Gly3324=)
c.6156A>C (p.Gly2052=)
c.5709A>C (p.Gly1903=)
c.5046A>C (p.Gly1682=)
c.9561A>C (p.Gly3187=)
5g.13752204C>ACA359190048DNAH5c.10958G>T (p.Gly3653Val)
c.10913G>T (p.Gly3638Val)
c.11066G>T (p.Gly3689Val)
c.9971G>T (p.Gly3324Val)
c.6155G>T (p.Gly2052Val)
c.5708G>T (p.Gly1903Val)
c.5045G>T (p.Gly1682Val)
c.9560G>T (p.Gly3187Val)
5g.13752204C=CA1528422941DNAH5c.10958G= (p.Gly3653=)
c.10913G= (p.Gly3638=)
c.11066G= (p.Gly3689=)
c.9971G= (p.Gly3324=)
c.6155G= (p.Gly2052=)
c.5708G= (p.Gly1903=)
c.5045G= (p.Gly1682=)
c.9560G= (p.Gly3187=)
5g.13752204C>GCA359190049DNAH5c.10958G>C (p.Gly3653Ala)
c.10913G>C (p.Gly3638Ala)
c.11066G>C (p.Gly3689Ala)
c.9971G>C (p.Gly3324Ala)
c.6155G>C (p.Gly2052Ala)
c.5708G>C (p.Gly1903Ala)
c.5045G>C (p.Gly1682Ala)
c.9560G>C (p.Gly3187Ala)
 gnomAD v4
5g.13752204C>TCA3202090DNAH5c.10958G>A (p.Gly3653Glu)
c.10913G>A (p.Gly3638Glu)
c.11066G>A (p.Gly3689Glu)
c.9971G>A (p.Gly3324Glu)
c.6155G>A (p.Gly2052Glu)
c.5708G>A (p.Gly1903Glu)
c.5045G>A (p.Gly1682Glu)
c.9560G>A (p.Gly3187Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13752205C>ACA359190071DNAH5c.10957G>T (p.Gly3653Ter)
c.10912G>T (p.Gly3638Ter)
c.11065G>T (p.Gly3689Ter)
c.9970G>T (p.Gly3324Ter)
c.6154G>T (p.Gly2052Ter)
c.5707G>T (p.Gly1903Ter)
c.5044G>T (p.Gly1682Ter)
c.9559G>T (p.Gly3187Ter)
5g.13752205C>GCA359190074DNAH5c.10957G>C (p.Gly3653Arg)
c.10912G>C (p.Gly3638Arg)
c.11065G>C (p.Gly3689Arg)
c.9970G>C (p.Gly3324Arg)
c.6154G>C (p.Gly2052Arg)
c.5707G>C (p.Gly1903Arg)
c.5044G>C (p.Gly1682Arg)
c.9559G>C (p.Gly3187Arg)
5g.13752205C>TCA359190077DNAH5c.10957G>A (p.Gly3653Arg)
c.10912G>A (p.Gly3638Arg)
c.11065G>A (p.Gly3689Arg)
c.9970G>A (p.Gly3324Arg)
c.6154G>A (p.Gly2052Arg)
c.5707G>A (p.Gly1903Arg)
c.5044G>A (p.Gly1682Arg)
c.9559G>A (p.Gly3187Arg)
 gnomAD v4
5g.13752206A>CCA443248683DNAH5c.10956T>G (p.Val3652=)
c.10911T>G (p.Val3637=)
c.11064T>G (p.Val3688=)
c.9969T>G (p.Val3323=)
c.6153T>G (p.Val2051=)
c.5706T>G (p.Val1902=)
c.5043T>G (p.Val1681=)
c.9558T>G (p.Val3186=)
5g.13752206A>GCA443248682DNAH5c.10956T>C (p.Val3652=)
c.10911T>C (p.Val3637=)
c.11064T>C (p.Val3688=)
c.9969T>C (p.Val3323=)
c.6153T>C (p.Val2051=)
c.5706T>C (p.Val1902=)
c.5043T>C (p.Val1681=)
c.9558T>C (p.Val3186=)
5g.13752206A>TCA443248685DNAH5c.10956T>A (p.Val3652=)
c.10911T>A (p.Val3637=)
c.11064T>A (p.Val3688=)
c.9969T>A (p.Val3323=)
c.6153T>A (p.Val2051=)
c.5706T>A (p.Val1902=)
c.5043T>A (p.Val1681=)
c.9558T>A (p.Val3186=)
5g.13752207A>CCA359190080DNAH5c.10955T>G (p.Val3652Gly)
c.10910T>G (p.Val3637Gly)
c.11063T>G (p.Val3688Gly)
c.9968T>G (p.Val3323Gly)
c.6152T>G (p.Val2051Gly)
c.5705T>G (p.Val1902Gly)
c.5042T>G (p.Val1681Gly)
c.9557T>G (p.Val3186Gly)
5g.13752207A>GCA359190083DNAH5c.10955T>C (p.Val3652Ala)
c.10910T>C (p.Val3637Ala)
c.11063T>C (p.Val3688Ala)
c.9968T>C (p.Val3323Ala)
c.6152T>C (p.Val2051Ala)
c.5705T>C (p.Val1902Ala)
c.5042T>C (p.Val1681Ala)
c.9557T>C (p.Val3186Ala)
5g.13752207A>TCA359190086DNAH5c.10955T>A (p.Val3652Asp)
c.10910T>A (p.Val3637Asp)
c.11063T>A (p.Val3688Asp)
c.9968T>A (p.Val3323Asp)
c.6152T>A (p.Val2051Asp)
c.5705T>A (p.Val1902Asp)
c.5042T>A (p.Val1681Asp)
c.9557T>A (p.Val3186Asp)
5g.13752208C>ACA359190090DNAH5c.10954G>T (p.Val3652Phe)
c.10909G>T (p.Val3637Phe)
c.11062G>T (p.Val3688Phe)
c.9967G>T (p.Val3323Phe)
c.6151G>T (p.Val2051Phe)
c.5704G>T (p.Val1902Phe)
c.5041G>T (p.Val1681Phe)
c.9556G>T (p.Val3186Phe)
5g.13752208C=CA1528422942DNAH5c.10954G= (p.Val3652=)
c.10909G= (p.Val3637=)
c.11062G= (p.Val3688=)
c.9967G= (p.Val3323=)
c.6151G= (p.Val2051=)
c.5704G= (p.Val1902=)
c.5041G= (p.Val1681=)
c.9556G= (p.Val3186=)
5g.13752208C>GCA359190093DNAH5c.10954G>C (p.Val3652Leu)
c.10909G>C (p.Val3637Leu)
c.11062G>C (p.Val3688Leu)
c.9967G>C (p.Val3323Leu)
c.6151G>C (p.Val2051Leu)
c.5704G>C (p.Val1902Leu)
c.5041G>C (p.Val1681Leu)
c.9556G>C (p.Val3186Leu)
5g.13752208C>TCA3202091DNAH5c.10954G>A (p.Val3652Ile)
c.10909G>A (p.Val3637Ile)
c.11062G>A (p.Val3688Ile)
c.9967G>A (p.Val3323Ile)
c.6151G>A (p.Val2051Ile)
c.5704G>A (p.Val1902Ile)
c.5041G>A (p.Val1681Ile)
c.9556G>A (p.Val3186Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13752209A=CA1528422943DNAH5c.10953T= (p.Asp3651=)
c.10908T= (p.Asp3636=)
c.11061T= (p.Asp3687=)
c.9966T= (p.Asp3322=)
c.6150T= (p.Asp2050=)
c.5703T= (p.Asp1901=)
c.5040T= (p.Asp1680=)
c.9555T= (p.Asp3185=)
5g.13752209A>CCA359190102DNAH5c.10953T>G (p.Asp3651Glu)
c.10908T>G (p.Asp3636Glu)
c.11061T>G (p.Asp3687Glu)
c.9966T>G (p.Asp3322Glu)
c.6150T>G (p.Asp2050Glu)
c.5703T>G (p.Asp1901Glu)
c.5040T>G (p.Asp1680Glu)
c.9555T>G (p.Asp3185Glu)
 gnomAD v4
5g.13752209A>GCA443248686DNAH5c.10953T>C (p.Asp3651=)
c.10908T>C (p.Asp3636=)
c.11061T>C (p.Asp3687=)
c.9966T>C (p.Asp3322=)
c.6150T>C (p.Asp2050=)
c.5703T>C (p.Asp1901=)
c.5040T>C (p.Asp1680=)
c.9555T>C (p.Asp3185=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13752209A>TCA359190105DNAH5c.10953T>A (p.Asp3651Glu)
c.10908T>A (p.Asp3636Glu)
c.11061T>A (p.Asp3687Glu)
c.9966T>A (p.Asp3322Glu)
c.6150T>A (p.Asp2050Glu)
c.5703T>A (p.Asp1901Glu)
c.5040T>A (p.Asp1680Glu)
c.9555T>A (p.Asp3185Glu)
5g.13752210delCA2580072140DNAH5c.10952del (p.Asp3651ValfsTer6)
c.10907del (p.Asp3636ValfsTer6)
c.11060del (p.Asp3687ValfsTer6)
c.9965del (p.Asp3322ValfsTer6)
c.6149del (p.Asp2050ValfsTer6)
c.5702del (p.Asp1901ValfsTer6)
c.5039del (p.Asp1680ValfsTer6)
c.9554del (p.Asp3185ValfsTer6)
 ClinVar gnomAD v4
5g.13752210T>ACA359190118DNAH5c.10952A>T (p.Asp3651Val)
c.10907A>T (p.Asp3636Val)
c.11060A>T (p.Asp3687Val)
c.9965A>T (p.Asp3322Val)
c.6149A>T (p.Asp2050Val)
c.5702A>T (p.Asp1901Val)
c.5039A>T (p.Asp1680Val)
c.9554A>T (p.Asp3185Val)
5g.13752210T>CCA359190119DNAH5c.10952A>G (p.Asp3651Gly)
c.10907A>G (p.Asp3636Gly)
c.11060A>G (p.Asp3687Gly)
c.9965A>G (p.Asp3322Gly)
c.6149A>G (p.Asp2050Gly)
c.5702A>G (p.Asp1901Gly)
c.5039A>G (p.Asp1680Gly)
c.9554A>G (p.Asp3185Gly)
 gnomAD v4
5g.13752210T>GCA359190115DNAH5c.10952A>C (p.Asp3651Ala)
c.10907A>C (p.Asp3636Ala)
c.11060A>C (p.Asp3687Ala)
c.9965A>C (p.Asp3322Ala)
c.6149A>C (p.Asp2050Ala)
c.5702A>C (p.Asp1901Ala)
c.5039A>C (p.Asp1680Ala)
c.9554A>C (p.Asp3185Ala)
5g.13752211C>ACA359190124DNAH5c.10951G>T (p.Asp3651Tyr)
c.10906G>T (p.Asp3636Tyr)
c.11059G>T (p.Asp3687Tyr)
c.9964G>T (p.Asp3322Tyr)
c.6148G>T (p.Asp2050Tyr)
c.5701G>T (p.Asp1901Tyr)
c.5038G>T (p.Asp1680Tyr)
c.9553G>T (p.Asp3185Tyr)
 COSMIC
5g.13752211C=CA1528422944DNAH5c.10951G= (p.Asp3651=)
c.10906G= (p.Asp3636=)
c.11059G= (p.Asp3687=)
c.9964G= (p.Asp3322=)
c.6148G= (p.Asp2050=)
c.5701G= (p.Asp1901=)
c.5038G= (p.Asp1680=)
c.9553G= (p.Asp3185=)
5g.13752211C>GCA359190126DNAH5c.10951G>C (p.Asp3651His)
c.10906G>C (p.Asp3636His)
c.11059G>C (p.Asp3687His)
c.9964G>C (p.Asp3322His)
c.6148G>C (p.Asp2050His)
c.5701G>C (p.Asp1901His)
c.5038G>C (p.Asp1680His)
c.9553G>C (p.Asp3185His)
5g.13752211C>TCA359190127DNAH5c.10951G>A (p.Asp3651Asn)
c.10906G>A (p.Asp3636Asn)
c.11059G>A (p.Asp3687Asn)
c.9964G>A (p.Asp3322Asn)
c.6148G>A (p.Asp2050Asn)
c.5701G>A (p.Asp1901Asn)
c.5038G>A (p.Asp1680Asn)
c.9553G>A (p.Asp3185Asn)
 dbSNP
5g.13752212T>ACA359190131DNAH5c.10950A>T (p.Glu3650Asp)
c.10905A>T (p.Glu3635Asp)
c.11058A>T (p.Glu3686Asp)
c.9963A>T (p.Glu3321Asp)
c.6147A>T (p.Glu2049Asp)
c.5700A>T (p.Glu1900Asp)
c.5037A>T (p.Glu1679Asp)
c.9552A>T (p.Glu3184Asp)
5g.13752212T>CCA443248687DNAH5c.10950A>G (p.Glu3650=)
c.10905A>G (p.Glu3635=)
c.11058A>G (p.Glu3686=)
c.9963A>G (p.Glu3321=)
c.6147A>G (p.Glu2049=)
c.5700A>G (p.Glu1900=)
c.5037A>G (p.Glu1679=)
c.9552A>G (p.Glu3184=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.13752212T>GCA359190133DNAH5c.10950A>C (p.Glu3650Asp)
c.10905A>C (p.Glu3635Asp)
c.11058A>C (p.Glu3686Asp)
c.9963A>C (p.Glu3321Asp)
c.6147A>C (p.Glu2049Asp)
c.5700A>C (p.Glu1900Asp)
c.5037A>C (p.Glu1679Asp)
c.9552A>C (p.Glu3184Asp)
5g.13752212T=CA1528422945DNAH5c.10950A= (p.Glu3650=)
c.10905A= (p.Glu3635=)
c.11058A= (p.Glu3686=)
c.9963A= (p.Glu3321=)
c.6147A= (p.Glu2049=)
c.5700A= (p.Glu1900=)
c.5037A= (p.Glu1679=)
c.9552A= (p.Glu3184=)
5g.13752213T>ACA359190135DNAH5c.10949A>T (p.Glu3650Val)
c.10904A>T (p.Glu3635Val)
c.11057A>T (p.Glu3686Val)
c.9962A>T (p.Glu3321Val)
c.6146A>T (p.Glu2049Val)
c.5699A>T (p.Glu1900Val)
c.5036A>T (p.Glu1679Val)
c.9551A>T (p.Glu3184Val)
5g.13752213T>CCA359190137DNAH5c.10949A>G (p.Glu3650Gly)
c.10904A>G (p.Glu3635Gly)
c.11057A>G (p.Glu3686Gly)
c.9962A>G (p.Glu3321Gly)
c.6146A>G (p.Glu2049Gly)
c.5699A>G (p.Glu1900Gly)
c.5036A>G (p.Glu1679Gly)
c.9551A>G (p.Glu3184Gly)
 gnomAD v4 COSMIC
5g.13752213T>GCA359190140DNAH5c.10949A>C (p.Glu3650Ala)
c.10904A>C (p.Glu3635Ala)
c.11057A>C (p.Glu3686Ala)
c.9962A>C (p.Glu3321Ala)
c.6146A>C (p.Glu2049Ala)
c.5699A>C (p.Glu1900Ala)
c.5036A>C (p.Glu1679Ala)
c.9551A>C (p.Glu3184Ala)
 dbSNP
5g.13752214C>ACA359190142DNAH5c.10948G>T (p.Glu3650Ter)
c.10903G>T (p.Glu3635Ter)
c.11056G>T (p.Glu3686Ter)
c.9961G>T (p.Glu3321Ter)
c.6145G>T (p.Glu2049Ter)
c.5698G>T (p.Glu1900Ter)
c.5035G>T (p.Glu1679Ter)
c.9550G>T (p.Glu3184Ter)
5g.13752214C=CA1528422946DNAH5c.10948G= (p.Glu3650=)
c.10903G= (p.Glu3635=)
c.11056G= (p.Glu3686=)
c.9961G= (p.Glu3321=)
c.6145G= (p.Glu2049=)
c.5698G= (p.Glu1900=)
c.5035G= (p.Glu1679=)
c.9550G= (p.Glu3184=)
5g.13752214C>GCA359190145DNAH5c.10948G>C (p.Glu3650Gln)
c.10903G>C (p.Glu3635Gln)
c.11056G>C (p.Glu3686Gln)
c.9961G>C (p.Glu3321Gln)
c.6145G>C (p.Glu2049Gln)
c.5698G>C (p.Glu1900Gln)
c.5035G>C (p.Glu1679Gln)
c.9550G>C (p.Glu3184Gln)
5g.13752214C>TCA3202092DNAH5c.10948G>A (p.Glu3650Lys)
c.10903G>A (p.Glu3635Lys)
c.11056G>A (p.Glu3686Lys)
c.9961G>A (p.Glu3321Lys)
c.6145G>A (p.Glu2049Lys)
c.5698G>A (p.Glu1900Lys)
c.5035G>A (p.Glu1679Lys)
c.9550G>A (p.Glu3184Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13752215A>CCA359190155DNAH5c.10947T>G (p.Ile3649Met)
c.10902T>G (p.Ile3634Met)
c.11055T>G (p.Ile3685Met)
c.9960T>G (p.Ile3320Met)
c.6144T>G (p.Ile2048Met)
c.5697T>G (p.Ile1899Met)
c.5034T>G (p.Ile1678Met)
c.9549T>G (p.Ile3183Met)
5g.13752215A>GCA443248688DNAH5c.10947T>C (p.Ile3649=)
c.10902T>C (p.Ile3634=)
c.11055T>C (p.Ile3685=)
c.9960T>C (p.Ile3320=)
c.6144T>C (p.Ile2048=)
c.5697T>C (p.Ile1899=)
c.5034T>C (p.Ile1678=)
c.9549T>C (p.Ile3183=)
5g.13752215A>TCA443248689DNAH5c.10947T>A (p.Ile3649=)
c.10902T>A (p.Ile3634=)
c.11055T>A (p.Ile3685=)
c.9960T>A (p.Ile3320=)
c.6144T>A (p.Ile2048=)
c.5697T>A (p.Ile1899=)
c.5034T>A (p.Ile1678=)
c.9549T>A (p.Ile3183=)
5g.13752216A>CCA359190164DNAH5c.10946T>G (p.Ile3649Ser)
c.10901T>G (p.Ile3634Ser)
c.11054T>G (p.Ile3685Ser)
c.9959T>G (p.Ile3320Ser)
c.6143T>G (p.Ile2048Ser)
c.5696T>G (p.Ile1899Ser)
c.5033T>G (p.Ile1678Ser)
c.9548T>G (p.Ile3183Ser)
 ClinVar gnomAD v4
5g.13752216A>GCA359190157DNAH5c.10946T>C (p.Ile3649Thr)
c.10901T>C (p.Ile3634Thr)
c.11054T>C (p.Ile3685Thr)
c.9959T>C (p.Ile3320Thr)
c.6143T>C (p.Ile2048Thr)
c.5696T>C (p.Ile1899Thr)
c.5033T>C (p.Ile1678Thr)
c.9548T>C (p.Ile3183Thr)
5g.13752216A>TCA359190159DNAH5c.10946T>A (p.Ile3649Asn)
c.10901T>A (p.Ile3634Asn)
c.11054T>A (p.Ile3685Asn)
c.9959T>A (p.Ile3320Asn)
c.6143T>A (p.Ile2048Asn)
c.5696T>A (p.Ile1899Asn)
c.5033T>A (p.Ile1678Asn)
c.9548T>A (p.Ile3183Asn)
5g.13752217T>ACA359190167DNAH5c.10945A>T (p.Ile3649Phe)
c.10900A>T (p.Ile3634Phe)
c.11053A>T (p.Ile3685Phe)
c.9958A>T (p.Ile3320Phe)
c.6142A>T (p.Ile2048Phe)
c.5695A>T (p.Ile1899Phe)
c.5032A>T (p.Ile1678Phe)
c.9547A>T (p.Ile3183Phe)
5g.13752217T>CCA3202093DNAH5c.10945A>G (p.Ile3649Val)
c.10900A>G (p.Ile3634Val)
c.11053A>G (p.Ile3685Val)
c.9958A>G (p.Ile3320Val)
c.6142A>G (p.Ile2048Val)
c.5695A>G (p.Ile1899Val)
c.5032A>G (p.Ile1678Val)
c.9547A>G (p.Ile3183Val)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.13752217T>GCA359190172DNAH5c.10945A>C (p.Ile3649Leu)
c.10900A>C (p.Ile3634Leu)
c.11053A>C (p.Ile3685Leu)
c.9958A>C (p.Ile3320Leu)
c.6142A>C (p.Ile2048Leu)
c.5695A>C (p.Ile1899Leu)
c.5032A>C (p.Ile1678Leu)
c.9547A>C (p.Ile3183Leu)
5g.13752217T=CA1528422947DNAH5c.10945A= (p.Ile3649=)
c.10900A= (p.Ile3634=)
c.11053A= (p.Ile3685=)
c.9958A= (p.Ile3320=)
c.6142A= (p.Ile2048=)
c.5695A= (p.Ile1899=)
c.5032A= (p.Ile1678=)
c.9547A= (p.Ile3183=)
5g.13752218A>CCA443248690DNAH5c.10944T>G (p.Leu3648=)
c.10899T>G (p.Leu3633=)
c.11052T>G (p.Leu3684=)
c.9957T>G (p.Leu3319=)
c.6141T>G (p.Leu2047=)
c.5694T>G (p.Leu1898=)
c.5031T>G (p.Leu1677=)
c.9546T>G (p.Leu3182=)
5g.13752218A>GCA443248691DNAH5c.10944T>C (p.Leu3648=)
c.10899T>C (p.Leu3633=)
c.11052T>C (p.Leu3684=)
c.9957T>C (p.Leu3319=)
c.6141T>C (p.Leu2047=)
c.5694T>C (p.Leu1898=)
c.5031T>C (p.Leu1677=)
c.9546T>C (p.Leu3182=)
5g.13752218A>TCA443248692DNAH5c.10944T>A (p.Leu3648=)
c.10899T>A (p.Leu3633=)
c.11052T>A (p.Leu3684=)
c.9957T>A (p.Leu3319=)
c.6141T>A (p.Leu2047=)
c.5694T>A (p.Leu1898=)
c.5031T>A (p.Leu1677=)
c.9546T>A (p.Leu3182=)
5g.13752219A>CCA359190175DNAH5c.10943T>G (p.Leu3648Arg)
c.10898T>G (p.Leu3633Arg)
c.11051T>G (p.Leu3684Arg)
c.9956T>G (p.Leu3319Arg)
c.6140T>G (p.Leu2047Arg)
c.5693T>G (p.Leu1898Arg)
c.5030T>G (p.Leu1677Arg)
c.9545T>G (p.Leu3182Arg)
5g.13752219A>GCA359190178DNAH5c.10943T>C (p.Leu3648Pro)
c.10898T>C (p.Leu3633Pro)
c.11051T>C (p.Leu3684Pro)
c.9956T>C (p.Leu3319Pro)
c.6140T>C (p.Leu2047Pro)
c.5693T>C (p.Leu1898Pro)
c.5030T>C (p.Leu1677Pro)
c.9545T>C (p.Leu3182Pro)
5g.13752219A>TCA359190181DNAH5c.10943T>A (p.Leu3648His)
c.10898T>A (p.Leu3633His)
c.11051T>A (p.Leu3684His)
c.9956T>A (p.Leu3319His)
c.6140T>A (p.Leu2047His)
c.5693T>A (p.Leu1898His)
c.5030T>A (p.Leu1677His)
c.9545T>A (p.Leu3182His)
5g.13752220G>ACA359190184DNAH5c.10942C>T (p.Leu3648Phe)
c.10897C>T (p.Leu3633Phe)
c.11050C>T (p.Leu3684Phe)
c.9955C>T (p.Leu3319Phe)
c.6139C>T (p.Leu2047Phe)
c.5692C>T (p.Leu1898Phe)
c.5029C>T (p.Leu1677Phe)
c.9544C>T (p.Leu3182Phe)
5g.13752220G>CCA359190186DNAH5c.10942C>G (p.Leu3648Val)
c.10897C>G (p.Leu3633Val)
c.11050C>G (p.Leu3684Val)
c.9955C>G (p.Leu3319Val)
c.6139C>G (p.Leu2047Val)
c.5692C>G (p.Leu1898Val)
c.5029C>G (p.Leu1677Val)
c.9544C>G (p.Leu3182Val)
5g.13752220G>TCA359190187DNAH5c.10942C>A (p.Leu3648Ile)
c.10897C>A (p.Leu3633Ile)
c.11050C>A (p.Leu3684Ile)
c.9955C>A (p.Leu3319Ile)
c.6139C>A (p.Leu2047Ile)
c.5692C>A (p.Leu1898Ile)
c.5029C>A (p.Leu1677Ile)
c.9544C>A (p.Leu3182Ile)
5g.13752221C>ACA113917777DNAH5c.10941G>T (p.Leu3647Phe)
c.10896G>T (p.Leu3632Phe)
c.11049G>T (p.Leu3683Phe)
c.9954G>T (p.Leu3318Phe)
c.6138G>T (p.Leu2046Phe)
c.5691G>T (p.Leu1897Phe)
c.5028G>T (p.Leu1676Phe)
c.9543G>T (p.Leu3181Phe)
 dbSNP gnomAD v4
5g.13752221C=CA1528422948DNAH5c.10941G= (p.Leu3647=)
c.10896G= (p.Leu3632=)
c.11049G= (p.Leu3683=)
c.9954G= (p.Leu3318=)
c.6138G= (p.Leu2046=)
c.5691G= (p.Leu1897=)
c.5028G= (p.Leu1676=)
c.9543G= (p.Leu3181=)
5g.13752221C>GCA359190190DNAH5c.10941G>C (p.Leu3647Phe)
c.10896G>C (p.Leu3632Phe)
c.11049G>C (p.Leu3683Phe)
c.9954G>C (p.Leu3318Phe)
c.6138G>C (p.Leu2046Phe)
c.5691G>C (p.Leu1897Phe)
c.5028G>C (p.Leu1676Phe)
c.9543G>C (p.Leu3181Phe)
 dbSNP
5g.13752221C>TCA443248693DNAH5c.10941G>A (p.Leu3647=)
c.10896G>A (p.Leu3632=)
c.11049G>A (p.Leu3683=)
c.9954G>A (p.Leu3318=)
c.6138G>A (p.Leu2046=)
c.5691G>A (p.Leu1897=)
c.5028G>A (p.Leu1676=)
c.9543G>A (p.Leu3181=)
5g.13752222A=CA1528422949DNAH5c.10940T= (p.Leu3647=)
c.10895T= (p.Leu3632=)
c.11048T= (p.Leu3683=)
c.9953T= (p.Leu3318=)
c.6137T= (p.Leu2046=)
c.5690T= (p.Leu1897=)
c.5027T= (p.Leu1676=)
c.9542T= (p.Leu3181=)
5g.13752222A>CCA359190200DNAH5c.10940T>G (p.Leu3647Trp)
c.10895T>G (p.Leu3632Trp)
c.11048T>G (p.Leu3683Trp)
c.9953T>G (p.Leu3318Trp)
c.6137T>G (p.Leu2046Trp)
c.5690T>G (p.Leu1897Trp)
c.5027T>G (p.Leu1676Trp)
c.9542T>G (p.Leu3181Trp)
5g.13752222A>GCA359190197DNAH5c.10940T>C (p.Leu3647Ser)
c.10895T>C (p.Leu3632Ser)
c.11048T>C (p.Leu3683Ser)
c.9953T>C (p.Leu3318Ser)
c.6137T>C (p.Leu2046Ser)
c.5690T>C (p.Leu1897Ser)
c.5027T>C (p.Leu1676Ser)
c.9542T>C (p.Leu3181Ser)
 dbSNP gnomAD v2 gnomAD v4
5g.13752222A>TCA359190195DNAH5c.10940T>A (p.Leu3647Ter)
c.10895T>A (p.Leu3632Ter)
c.11048T>A (p.Leu3683Ter)
c.9953T>A (p.Leu3318Ter)
c.6137T>A (p.Leu2046Ter)
c.5690T>A (p.Leu1897Ter)
c.5027T>A (p.Leu1676Ter)
c.9542T>A (p.Leu3181Ter)
5g.13752223A>CCA359190202DNAH5c.10939T>G (p.Leu3647Val)
c.10894T>G (p.Leu3632Val)
c.11047T>G (p.Leu3683Val)
c.9952T>G (p.Leu3318Val)
c.6136T>G (p.Leu2046Val)
c.5689T>G (p.Leu1897Val)
c.5026T>G (p.Leu1676Val)
c.9541T>G (p.Leu3181Val)
 gnomAD v4
5g.13752223A>GCA443248694DNAH5c.10939T>C (p.Leu3647=)
c.10894T>C (p.Leu3632=)
c.11047T>C (p.Leu3683=)
c.9952T>C (p.Leu3318=)
c.6136T>C (p.Leu2046=)
c.5689T>C (p.Leu1897=)
c.5026T>C (p.Leu1676=)
c.9541T>C (p.Leu3181=)
5g.13752223A>TCA359190205DNAH5c.10939T>A (p.Leu3647Met)
c.10894T>A (p.Leu3632Met)
c.11047T>A (p.Leu3683Met)
c.9952T>A (p.Leu3318Met)
c.6136T>A (p.Leu2046Met)
c.5689T>A (p.Leu1897Met)
c.5026T>A (p.Leu1676Met)
c.9541T>A (p.Leu3181Met)
5g.13752224A>CCA443248695DNAH5c.10938T>G (p.Pro3646=)
c.10893T>G (p.Pro3631=)
c.11046T>G (p.Pro3682=)
c.9951T>G (p.Pro3317=)
c.6135T>G (p.Pro2045=)
c.5688T>G (p.Pro1896=)
c.5025T>G (p.Pro1675=)
c.9540T>G (p.Pro3180=)
 ClinVar
5g.13752224A>GCA443248696DNAH5c.10938T>C (p.Pro3646=)
c.10893T>C (p.Pro3631=)
c.11046T>C (p.Pro3682=)
c.9951T>C (p.Pro3317=)
c.6135T>C (p.Pro2045=)
c.5688T>C (p.Pro1896=)
c.5025T>C (p.Pro1675=)
c.9540T>C (p.Pro3180=)
5g.13752224A>TCA443248697DNAH5c.10938T>A (p.Pro3646=)
c.10893T>A (p.Pro3631=)
c.11046T>A (p.Pro3682=)
c.9951T>A (p.Pro3317=)
c.6135T>A (p.Pro2045=)
c.5688T>A (p.Pro1896=)
c.5025T>A (p.Pro1675=)
c.9540T>A (p.Pro3180=)
5g.13752225G>ACA359190210DNAH5c.10937C>T (p.Pro3646Leu)
c.10892C>T (p.Pro3631Leu)
c.11045C>T (p.Pro3682Leu)
c.9950C>T (p.Pro3317Leu)
c.6134C>T (p.Pro2045Leu)
c.5687C>T (p.Pro1896Leu)
c.5024C>T (p.Pro1675Leu)
c.9539C>T (p.Pro3180Leu)
5g.13752225G>CCA359190211DNAH5c.10937C>G (p.Pro3646Arg)
c.10892C>G (p.Pro3631Arg)
c.11045C>G (p.Pro3682Arg)
c.9950C>G (p.Pro3317Arg)
c.6134C>G (p.Pro2045Arg)
c.5687C>G (p.Pro1896Arg)
c.5024C>G (p.Pro1675Arg)
c.9539C>G (p.Pro3180Arg)
5g.13752225G=CA1528422950DNAH5c.10937C= (p.Pro3646=)
c.10892C= (p.Pro3631=)
c.11045C= (p.Pro3682=)
c.9950C= (p.Pro3317=)
c.6134C= (p.Pro2045=)
c.5687C= (p.Pro1896=)
c.5024C= (p.Pro1675=)
c.9539C= (p.Pro3180=)
5g.13752225G>TCA113917787DNAH5c.10937C>A (p.Pro3646His)
c.10892C>A (p.Pro3631His)
c.11045C>A (p.Pro3682His)
c.9950C>A (p.Pro3317His)
c.6134C>A (p.Pro2045His)
c.5687C>A (p.Pro1896His)
c.5024C>A (p.Pro1675His)
c.9539C>A (p.Pro3180His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13752226G>ACA359190216DNAH5c.10936C>T (p.Pro3646Ser)
c.10891C>T (p.Pro3631Ser)
c.11044C>T (p.Pro3682Ser)
c.9949C>T (p.Pro3317Ser)
c.6133C>T (p.Pro2045Ser)
c.5686C>T (p.Pro1896Ser)
c.5023C>T (p.Pro1675Ser)
c.9538C>T (p.Pro3180Ser)
 dbSNP gnomAD v4 COSMIC
5g.13752226G>CCA359190221DNAH5c.10936C>G (p.Pro3646Ala)
c.10891C>G (p.Pro3631Ala)
c.11044C>G (p.Pro3682Ala)
c.9949C>G (p.Pro3317Ala)
c.6133C>G (p.Pro2045Ala)
c.5686C>G (p.Pro1896Ala)
c.5023C>G (p.Pro1675Ala)
c.9538C>G (p.Pro3180Ala)
5g.13752226G=CA1528422951DNAH5c.10936C= (p.Pro3646=)
c.10891C= (p.Pro3631=)
c.11044C= (p.Pro3682=)
c.9949C= (p.Pro3317=)
c.6133C= (p.Pro2045=)
c.5686C= (p.Pro1896=)
c.5023C= (p.Pro1675=)
c.9538C= (p.Pro3180=)
5g.13752226G>TCA359190230DNAH5c.10936C>A (p.Pro3646Thr)
c.10891C>A (p.Pro3631Thr)
c.11044C>A (p.Pro3682Thr)
c.9949C>A (p.Pro3317Thr)
c.6133C>A (p.Pro2045Thr)
c.5686C>A (p.Pro1896Thr)
c.5023C>A (p.Pro1675Thr)
c.9538C>A (p.Pro3180Thr)
 gnomAD v4
5g.13752227C>ACA3202094DNAH5c.10935G>T (p.Arg3645Ser)
c.10890G>T (p.Arg3630Ser)
c.11043G>T (p.Arg3681Ser)
c.9948G>T (p.Arg3316Ser)
c.6132G>T (p.Arg2044Ser)
c.5685G>T (p.Arg1895Ser)
c.5022G>T (p.Arg1674Ser)
c.9537G>T (p.Arg3179Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13752227C=CA1528422952DNAH5c.10935G= (p.Arg3645=)
c.10890G= (p.Arg3630=)
c.11043G= (p.Arg3681=)
c.9948G= (p.Arg3316=)
c.6132G= (p.Arg2044=)
c.5685G= (p.Arg1895=)
c.5022G= (p.Arg1674=)
c.9537G= (p.Arg3179=)
5g.13752227C>GCA359190234DNAH5c.10935G>C (p.Arg3645Ser)
c.10890G>C (p.Arg3630Ser)
c.11043G>C (p.Arg3681Ser)
c.9948G>C (p.Arg3316Ser)
c.6132G>C (p.Arg2044Ser)
c.5685G>C (p.Arg1895Ser)
c.5022G>C (p.Arg1674Ser)
c.9537G>C (p.Arg3179Ser)
5g.13752227C>TCA443248698DNAH5c.10935G>A (p.Arg3645=)
c.10890G>A (p.Arg3630=)
c.11043G>A (p.Arg3681=)
c.9948G>A (p.Arg3316=)
c.6132G>A (p.Arg2044=)
c.5685G>A (p.Arg1895=)
c.5022G>A (p.Arg1674=)
c.9537G>A (p.Arg3179=)
 gnomAD v4 COSMIC
5g.13752228C>ACA359190237DNAH5c.10934G>T (p.Arg3645Met)
c.10889G>T (p.Arg3630Met)
c.11042G>T (p.Arg3681Met)
c.9947G>T (p.Arg3316Met)
c.6131G>T (p.Arg2044Met)
c.5684G>T (p.Arg1895Met)
c.5021G>T (p.Arg1674Met)
c.9536G>T (p.Arg3179Met)
5g.13752228C>GCA359190238DNAH5c.10934G>C (p.Arg3645Thr)
c.10889G>C (p.Arg3630Thr)
c.11042G>C (p.Arg3681Thr)
c.9947G>C (p.Arg3316Thr)
c.6131G>C (p.Arg2044Thr)
c.5684G>C (p.Arg1895Thr)
c.5021G>C (p.Arg1674Thr)
c.9536G>C (p.Arg3179Thr)
5g.13752228C>TCA359190239DNAH5c.10934G>A (p.Arg3645Lys)
c.10889G>A (p.Arg3630Lys)
c.11042G>A (p.Arg3681Lys)
c.9947G>A (p.Arg3316Lys)
c.6131G>A (p.Arg2044Lys)
c.5684G>A (p.Arg1895Lys)
c.5021G>A (p.Arg1674Lys)
c.9536G>A (p.Arg3179Lys)
5g.13752229T>ACA359190240DNAH5c.10933A>T (p.Arg3645Trp)
c.10888A>T (p.Arg3630Trp)
c.11041A>T (p.Arg3681Trp)
c.9946A>T (p.Arg3316Trp)
c.6130A>T (p.Arg2044Trp)
c.5683A>T (p.Arg1895Trp)
c.5020A>T (p.Arg1674Trp)
c.9535A>T (p.Arg3179Trp)
5g.13752229T>CCA359190242DNAH5c.10933A>G (p.Arg3645Gly)
c.10888A>G (p.Arg3630Gly)
c.11041A>G (p.Arg3681Gly)
c.9946A>G (p.Arg3316Gly)
c.6130A>G (p.Arg2044Gly)
c.5683A>G (p.Arg1895Gly)
c.5020A>G (p.Arg1674Gly)
c.9535A>G (p.Arg3179Gly)
 COSMIC
5g.13752229T>GCA443248699DNAH5c.10933A>C (p.Arg3645=)
c.10888A>C (p.Arg3630=)
c.11041A>C (p.Arg3681=)
c.9946A>C (p.Arg3316=)
c.6130A>C (p.Arg2044=)
c.5683A>C (p.Arg1895=)
c.5020A>C (p.Arg1674=)
c.9535A>C (p.Arg3179=)
 gnomAD v4
5g.13752230delCA2580072141DNAH5c.10933del (p.Arg3645GlyfsTer12)
c.10888del (p.Arg3630GlyfsTer12)
c.11041del (p.Arg3681GlyfsTer12)
c.9946del (p.Arg3316GlyfsTer12)
c.6130del (p.Arg2044GlyfsTer12)
c.5683del (p.Arg1895GlyfsTer12)
c.5020del (p.Arg1674GlyfsTer12)
c.9535del (p.Arg3179GlyfsTer12)
 ClinVar
5g.13752230T>ACA443248702DNAH5c.10932A>T (p.Gly3644=)
c.10887A>T (p.Gly3629=)
c.11040A>T (p.Gly3680=)
c.9945A>T (p.Gly3315=)
c.6129A>T (p.Gly2043=)
c.5682A>T (p.Gly1894=)
c.5019A>T (p.Gly1673=)
c.9534A>T (p.Gly3178=)
5g.13752230T>CCA443248701DNAH5c.10932A>G (p.Gly3644=)
c.10887A>G (p.Gly3629=)
c.11040A>G (p.Gly3680=)
c.9945A>G (p.Gly3315=)
c.6129A>G (p.Gly2043=)
c.5682A>G (p.Gly1894=)
c.5019A>G (p.Gly1673=)
c.9534A>G (p.Gly3178=)
5g.13752230T>GCA443248700DNAH5c.10932A>C (p.Gly3644=)
c.10887A>C (p.Gly3629=)
c.11040A>C (p.Gly3680=)
c.9945A>C (p.Gly3315=)
c.6129A>C (p.Gly2043=)
c.5682A>C (p.Gly1894=)
c.5019A>C (p.Gly1673=)
c.9534A>C (p.Gly3178=)
5g.13752231C>ACA359190243DNAH5c.10931G>T (p.Gly3644Val)
c.10886G>T (p.Gly3629Val)
c.11039G>T (p.Gly3680Val)
c.9944G>T (p.Gly3315Val)
c.6128G>T (p.Gly2043Val)
c.5681G>T (p.Gly1894Val)
c.5018G>T (p.Gly1673Val)
c.9533G>T (p.Gly3178Val)
5g.13752231C>GCA359190250DNAH5c.10931G>C (p.Gly3644Ala)
c.10886G>C (p.Gly3629Ala)
c.11039G>C (p.Gly3680Ala)
c.9944G>C (p.Gly3315Ala)
c.6128G>C (p.Gly2043Ala)
c.5681G>C (p.Gly1894Ala)
c.5018G>C (p.Gly1673Ala)
c.9533G>C (p.Gly3178Ala)
5g.13752231C>TCA359190246DNAH5c.10931G>A (p.Gly3644Glu)
c.10886G>A (p.Gly3629Glu)
c.11039G>A (p.Gly3680Glu)
c.9944G>A (p.Gly3315Glu)
c.6128G>A (p.Gly2043Glu)
c.5681G>A (p.Gly1894Glu)
c.5018G>A (p.Gly1673Glu)
c.9533G>A (p.Gly3178Glu)
5g.13752232C>ACA359190253DNAH5c.10930G>T (p.Gly3644Ter)
c.10885G>T (p.Gly3629Ter)
c.11038G>T (p.Gly3680Ter)
c.9943G>T (p.Gly3315Ter)
c.6127G>T (p.Gly2043Ter)
c.5680G>T (p.Gly1894Ter)
c.5017G>T (p.Gly1673Ter)
c.9532G>T (p.Gly3178Ter)
 ClinVar dbSNP COSMIC
5g.13752232C=CA1528422953DNAH5c.10930G= (p.Gly3644=)
c.10885G= (p.Gly3629=)
c.11038G= (p.Gly3680=)
c.9943G= (p.Gly3315=)
c.6127G= (p.Gly2043=)
c.5680G= (p.Gly1894=)
c.5017G= (p.Gly1673=)
c.9532G= (p.Gly3178=)
5g.13752232C>GCA359190255DNAH5c.10930G>C (p.Gly3644Arg)
c.10885G>C (p.Gly3629Arg)
c.11038G>C (p.Gly3680Arg)
c.9943G>C (p.Gly3315Arg)
c.6127G>C (p.Gly2043Arg)
c.5680G>C (p.Gly1894Arg)
c.5017G>C (p.Gly1673Arg)
c.9532G>C (p.Gly3178Arg)
5g.13752232C>TCA359190257DNAH5c.10930G>A (p.Gly3644Arg)
c.10885G>A (p.Gly3629Arg)
c.11038G>A (p.Gly3680Arg)
c.9943G>A (p.Gly3315Arg)
c.6127G>A (p.Gly2043Arg)
c.5680G>A (p.Gly1894Arg)
c.5017G>A (p.Gly1673Arg)
c.9532G>A (p.Gly3178Arg)
5g.13752233A>CCA443248703DNAH5c.10929T>G (p.Leu3643=)
c.10884T>G (p.Leu3628=)
c.11037T>G (p.Leu3679=)
c.9942T>G (p.Leu3314=)
c.6126T>G (p.Leu2042=)
c.5679T>G (p.Leu1893=)
c.5016T>G (p.Leu1672=)
c.9531T>G (p.Leu3177=)
5g.13752233A>GCA443248705DNAH5c.10929T>C (p.Leu3643=)
c.10884T>C (p.Leu3628=)
c.11037T>C (p.Leu3679=)
c.9942T>C (p.Leu3314=)
c.6126T>C (p.Leu2042=)
c.5679T>C (p.Leu1893=)
c.5016T>C (p.Leu1672=)
c.9531T>C (p.Leu3177=)
5g.13752233A>TCA443248704DNAH5c.10929T>A (p.Leu3643=)
c.10884T>A (p.Leu3628=)
c.11037T>A (p.Leu3679=)
c.9942T>A (p.Leu3314=)
c.6126T>A (p.Leu2042=)
c.5679T>A (p.Leu1893=)
c.5016T>A (p.Leu1672=)
c.9531T>A (p.Leu3177=)
5g.13752234A>CCA359190263DNAH5c.10928T>G (p.Leu3643Arg)
c.10883T>G (p.Leu3628Arg)
c.11036T>G (p.Leu3679Arg)
c.9941T>G (p.Leu3314Arg)
c.6125T>G (p.Leu2042Arg)
c.5678T>G (p.Leu1893Arg)
c.5015T>G (p.Leu1672Arg)
c.9530T>G (p.Leu3177Arg)
5g.13752234A>GCA359190264DNAH5c.10928T>C (p.Leu3643Pro)
c.10883T>C (p.Leu3628Pro)
c.11036T>C (p.Leu3679Pro)
c.9941T>C (p.Leu3314Pro)
c.6125T>C (p.Leu2042Pro)
c.5678T>C (p.Leu1893Pro)
c.5015T>C (p.Leu1672Pro)
c.9530T>C (p.Leu3177Pro)
5g.13752234A>TCA359190267DNAH5c.10928T>A (p.Leu3643His)
c.10883T>A (p.Leu3628His)
c.11036T>A (p.Leu3679His)
c.9941T>A (p.Leu3314His)
c.6125T>A (p.Leu2042His)
c.5678T>A (p.Leu1893His)
c.5015T>A (p.Leu1672His)
c.9530T>A (p.Leu3177His)
5g.13752235G>ACA359190271DNAH5c.10927C>T (p.Leu3643Phe)
c.10882C>T (p.Leu3628Phe)
c.11035C>T (p.Leu3679Phe)
c.9940C>T (p.Leu3314Phe)
c.6124C>T (p.Leu2042Phe)
c.5677C>T (p.Leu1893Phe)
c.5014C>T (p.Leu1672Phe)
c.9529C>T (p.Leu3177Phe)
5g.13752235G>CCA359190273DNAH5c.10927C>G (p.Leu3643Val)
c.10882C>G (p.Leu3628Val)
c.11035C>G (p.Leu3679Val)
c.9940C>G (p.Leu3314Val)
c.6124C>G (p.Leu2042Val)
c.5677C>G (p.Leu1893Val)
c.5014C>G (p.Leu1672Val)
c.9529C>G (p.Leu3177Val)
 COSMIC
5g.13752235G>TCA359190276DNAH5c.10927C>A (p.Leu3643Ile)
c.10882C>A (p.Leu3628Ile)
c.11035C>A (p.Leu3679Ile)
c.9940C>A (p.Leu3314Ile)
c.6124C>A (p.Leu2042Ile)
c.5677C>A (p.Leu1893Ile)
c.5014C>A (p.Leu1672Ile)
c.9529C>A (p.Leu3177Ile)
5g.13752236A=CA1528422954DNAH5c.10926T= (p.Ser3642=)
c.10881T= (p.Ser3627=)
c.11034T= (p.Ser3678=)
c.9939T= (p.Ser3313=)
c.6123T= (p.Ser2041=)
c.5676T= (p.Ser1892=)
c.5013T= (p.Ser1671=)
c.9528T= (p.Ser3176=)
5g.13752236A>CCA443248706DNAH5c.10926T>G (p.Ser3642=)
c.10881T>G (p.Ser3627=)
c.11034T>G (p.Ser3678=)
c.9939T>G (p.Ser3313=)
c.6123T>G (p.Ser2041=)
c.5676T>G (p.Ser1892=)
c.5013T>G (p.Ser1671=)
c.9528T>G (p.Ser3176=)
5g.13752236A>GCA3202095DNAH5c.10926T>C (p.Ser3642=)
c.10881T>C (p.Ser3627=)
c.11034T>C (p.Ser3678=)
c.9939T>C (p.Ser3313=)
c.6123T>C (p.Ser2041=)
c.5676T>C (p.Ser1892=)
c.5013T>C (p.Ser1671=)
c.9528T>C (p.Ser3176=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13752236A>TCA443248707DNAH5c.10926T>A (p.Ser3642=)
c.10881T>A (p.Ser3627=)
c.11034T>A (p.Ser3678=)
c.9939T>A (p.Ser3313=)
c.6123T>A (p.Ser2041=)
c.5676T>A (p.Ser1892=)
c.5013T>A (p.Ser1671=)
c.9528T>A (p.Ser3176=)
5g.13752237G>ACA3202096DNAH5c.10925C>T (p.Ser3642Phe)
c.10880C>T (p.Ser3627Phe)
c.11033C>T (p.Ser3678Phe)
c.9938C>T (p.Ser3313Phe)
c.6122C>T (p.Ser2041Phe)
c.5675C>T (p.Ser1892Phe)
c.5012C>T (p.Ser1671Phe)
c.9527C>T (p.Ser3176Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13752237G>CCA359190283DNAH5c.10925C>G (p.Ser3642Cys)
c.10880C>G (p.Ser3627Cys)
c.11033C>G (p.Ser3678Cys)
c.9938C>G (p.Ser3313Cys)
c.6122C>G (p.Ser2041Cys)
c.5675C>G (p.Ser1892Cys)
c.5012C>G (p.Ser1671Cys)
c.9527C>G (p.Ser3176Cys)
5g.13752237G=CA1528422955DNAH5c.10925C= (p.Ser3642=)
c.10880C= (p.Ser3627=)
c.11033C= (p.Ser3678=)
c.9938C= (p.Ser3313=)
c.6122C= (p.Ser2041=)
c.5675C= (p.Ser1892=)
c.5012C= (p.Ser1671=)
c.9527C= (p.Ser3176=)
5g.13752237G>TCA359190280DNAH5c.10925C>A (p.Ser3642Tyr)
c.10880C>A (p.Ser3627Tyr)
c.11033C>A (p.Ser3678Tyr)
c.9938C>A (p.Ser3313Tyr)
c.6122C>A (p.Ser2041Tyr)
c.5675C>A (p.Ser1892Tyr)
c.5012C>A (p.Ser1671Tyr)
c.9527C>A (p.Ser3176Tyr)
5g.13752238A=CA1528422956DNAH5c.10924T= (p.Ser3642=)
c.10879T= (p.Ser3627=)
c.11032T= (p.Ser3678=)
c.9937T= (p.Ser3313=)
c.6121T= (p.Ser2041=)
c.5674T= (p.Ser1892=)
c.5011T= (p.Ser1671=)
c.9526T= (p.Ser3176=)
5g.13752238A>CCA359190284DNAH5c.10924T>G (p.Ser3642Ala)
c.10879T>G (p.Ser3627Ala)
c.11032T>G (p.Ser3678Ala)
c.9937T>G (p.Ser3313Ala)
c.6121T>G (p.Ser2041Ala)
c.5674T>G (p.Ser1892Ala)
c.5011T>G (p.Ser1671Ala)
c.9526T>G (p.Ser3176Ala)
 dbSNP gnomAD v3 gnomAD v4
5g.13752238A>GCA359190285DNAH5c.10924T>C (p.Ser3642Pro)
c.10879T>C (p.Ser3627Pro)
c.11032T>C (p.Ser3678Pro)
c.9937T>C (p.Ser3313Pro)
c.6121T>C (p.Ser2041Pro)
c.5674T>C (p.Ser1892Pro)
c.5011T>C (p.Ser1671Pro)
c.9526T>C (p.Ser3176Pro)
 dbSNP gnomAD v3 gnomAD v4
5g.13752238A>TCA359190286DNAH5c.10924T>A (p.Ser3642Thr)
c.10879T>A (p.Ser3627Thr)
c.11032T>A (p.Ser3678Thr)
c.9937T>A (p.Ser3313Thr)
c.6121T>A (p.Ser2041Thr)
c.5674T>A (p.Ser1892Thr)
c.5011T>A (p.Ser1671Thr)
c.9526T>A (p.Ser3176Thr)
5g.13752239A>CCA443248708DNAH5c.10923T>G (p.Leu3641=)
c.10878T>G (p.Leu3626=)
c.11031T>G (p.Leu3677=)
c.9936T>G (p.Leu3312=)
c.6120T>G (p.Leu2040=)
c.5673T>G (p.Leu1891=)
c.5010T>G (p.Leu1670=)
c.9525T>G (p.Leu3175=)
5g.13752239A>GCA443248709DNAH5c.10923T>C (p.Leu3641=)
c.10878T>C (p.Leu3626=)
c.11031T>C (p.Leu3677=)
c.9936T>C (p.Leu3312=)
c.6120T>C (p.Leu2040=)
c.5673T>C (p.Leu1891=)
c.5010T>C (p.Leu1670=)
c.9525T>C (p.Leu3175=)
5g.13752239A>TCA443248710DNAH5c.10923T>A (p.Leu3641=)
c.10878T>A (p.Leu3626=)
c.11031T>A (p.Leu3677=)
c.9936T>A (p.Leu3312=)
c.6120T>A (p.Leu2040=)
c.5673T>A (p.Leu1891=)
c.5010T>A (p.Leu1670=)
c.9525T>A (p.Leu3175=)
5g.13752240A>CCA359190290DNAH5c.10922T>G (p.Leu3641Arg)
c.10877T>G (p.Leu3626Arg)
c.11030T>G (p.Leu3677Arg)
c.9935T>G (p.Leu3312Arg)
c.6119T>G (p.Leu2040Arg)
c.5672T>G (p.Leu1891Arg)
c.5009T>G (p.Leu1670Arg)
c.9524T>G (p.Leu3175Arg)
5g.13752240A>GCA359190292DNAH5c.10922T>C (p.Leu3641Pro)
c.10877T>C (p.Leu3626Pro)
c.11030T>C (p.Leu3677Pro)
c.9935T>C (p.Leu3312Pro)
c.6119T>C (p.Leu2040Pro)
c.5672T>C (p.Leu1891Pro)
c.5009T>C (p.Leu1670Pro)
c.9524T>C (p.Leu3175Pro)
5g.13752240A>TCA359190295DNAH5c.10922T>A (p.Leu3641His)
c.10877T>A (p.Leu3626His)
c.11030T>A (p.Leu3677His)
c.9935T>A (p.Leu3312His)
c.6119T>A (p.Leu2040His)
c.5672T>A (p.Leu1891His)
c.5009T>A (p.Leu1670His)
c.9524T>A (p.Leu3175His)
5g.13752241G>ACA359190304DNAH5c.10921C>T (p.Leu3641Phe)
c.10876C>T (p.Leu3626Phe)
c.11029C>T (p.Leu3677Phe)
c.9934C>T (p.Leu3312Phe)
c.6118C>T (p.Leu2040Phe)
c.5671C>T (p.Leu1891Phe)
c.5008C>T (p.Leu1670Phe)
c.9523C>T (p.Leu3175Phe)
 gnomAD v4
5g.13752241G>CCA359190297DNAH5c.10921C>G (p.Leu3641Val)
c.10876C>G (p.Leu3626Val)
c.11029C>G (p.Leu3677Val)
c.9934C>G (p.Leu3312Val)
c.6118C>G (p.Leu2040Val)
c.5671C>G (p.Leu1891Val)
c.5008C>G (p.Leu1670Val)
c.9523C>G (p.Leu3175Val)
 gnomAD v4
5g.13752241G>TCA359190299DNAH5c.10921C>A (p.Leu3641Ile)
c.10876C>A (p.Leu3626Ile)
c.11029C>A (p.Leu3677Ile)
c.9934C>A (p.Leu3312Ile)
c.6118C>A (p.Leu2040Ile)
c.5671C>A (p.Leu1891Ile)
c.5008C>A (p.Leu1670Ile)
c.9523C>A (p.Leu3175Ile)
 COSMIC
5g.13752242G>ACA443248711DNAH5c.10920C>T (p.Ser3640=)
c.10875C>T (p.Ser3625=)
c.11028C>T (p.Ser3676=)
c.9933C>T (p.Ser3311=)
c.6117C>T (p.Ser2039=)
c.5670C>T (p.Ser1890=)
c.5007C>T (p.Ser1669=)
c.9522C>T (p.Ser3174=)
5g.13752242G>CCA359190308DNAH5c.10920C>G (p.Ser3640Arg)
c.10875C>G (p.Ser3625Arg)
c.11028C>G (p.Ser3676Arg)
c.9933C>G (p.Ser3311Arg)
c.6117C>G (p.Ser2039Arg)
c.5670C>G (p.Ser1890Arg)
c.5007C>G (p.Ser1669Arg)
c.9522C>G (p.Ser3174Arg)
5g.13752242G>TCA359190309DNAH5c.10920C>A (p.Ser3640Arg)
c.10875C>A (p.Ser3625Arg)
c.11028C>A (p.Ser3676Arg)
c.9933C>A (p.Ser3311Arg)
c.6117C>A (p.Ser2039Arg)
c.5670C>A (p.Ser1890Arg)
c.5007C>A (p.Ser1669Arg)
c.9522C>A (p.Ser3174Arg)
5g.13752243C>ACA359190313DNAH5c.10919G>T (p.Ser3640Ile)
c.10874G>T (p.Ser3625Ile)
c.11027G>T (p.Ser3676Ile)
c.9932G>T (p.Ser3311Ile)
c.6116G>T (p.Ser2039Ile)
c.5669G>T (p.Ser1890Ile)
c.5006G>T (p.Ser1669Ile)
c.9521G>T (p.Ser3174Ile)
5g.13752243C>GCA359190315DNAH5c.10919G>C (p.Ser3640Thr)
c.10874G>C (p.Ser3625Thr)
c.11027G>C (p.Ser3676Thr)
c.9932G>C (p.Ser3311Thr)
c.6116G>C (p.Ser2039Thr)
c.5669G>C (p.Ser1890Thr)
c.5006G>C (p.Ser1669Thr)
c.9521G>C (p.Ser3174Thr)
5g.13752243C>TCA359190317DNAH5c.10919G>A (p.Ser3640Asn)
c.10874G>A (p.Ser3625Asn)
c.11027G>A (p.Ser3676Asn)
c.9932G>A (p.Ser3311Asn)
c.6116G>A (p.Ser2039Asn)
c.5669G>A (p.Ser1890Asn)
c.5006G>A (p.Ser1669Asn)
c.9521G>A (p.Ser3174Asn)
5g.13752244T>ACA359190325DNAH5c.10918A>T (p.Ser3640Cys)
c.10873A>T (p.Ser3625Cys)
c.11026A>T (p.Ser3676Cys)
c.9931A>T (p.Ser3311Cys)
c.6115A>T (p.Ser2039Cys)
c.5668A>T (p.Ser1890Cys)
c.5005A>T (p.Ser1669Cys)
c.9520A>T (p.Ser3174Cys)
5g.13752244T>CCA359190331DNAH5c.10918A>G (p.Ser3640Gly)
c.10873A>G (p.Ser3625Gly)
c.11026A>G (p.Ser3676Gly)
c.9931A>G (p.Ser3311Gly)
c.6115A>G (p.Ser2039Gly)
c.5668A>G (p.Ser1890Gly)
c.5005A>G (p.Ser1669Gly)
c.9520A>G (p.Ser3174Gly)
 gnomAD v4
5g.13752244T>GCA359190328DNAH5c.10918A>C (p.Ser3640Arg)
c.10873A>C (p.Ser3625Arg)
c.11026A>C (p.Ser3676Arg)
c.9931A>C (p.Ser3311Arg)
c.6115A>C (p.Ser2039Arg)
c.5668A>C (p.Ser1890Arg)
c.5005A>C (p.Ser1669Arg)
c.9520A>C (p.Ser3174Arg)
5g.13752245G>ACA443248712DNAH5c.10917C>T (p.Asp3639=)
c.10872C>T (p.Asp3624=)
c.11025C>T (p.Asp3675=)
c.9930C>T (p.Asp3310=)
c.6114C>T (p.Asp2038=)
c.5667C>T (p.Asp1889=)
c.5004C>T (p.Asp1668=)
c.9519C>T (p.Asp3173=)
5g.13752245G>CCA359190334DNAH5c.10917C>G (p.Asp3639Glu)
c.10872C>G (p.Asp3624Glu)
c.11025C>G (p.Asp3675Glu)
c.9930C>G (p.Asp3310Glu)
c.6114C>G (p.Asp2038Glu)
c.5667C>G (p.Asp1889Glu)
c.5004C>G (p.Asp1668Glu)
c.9519C>G (p.Asp3173Glu)
5g.13752245G>TCA359190337DNAH5c.10917C>A (p.Asp3639Glu)
c.10872C>A (p.Asp3624Glu)
c.11025C>A (p.Asp3675Glu)
c.9930C>A (p.Asp3310Glu)
c.6114C>A (p.Asp2038Glu)
c.5667C>A (p.Asp1889Glu)
c.5004C>A (p.Asp1668Glu)
c.9519C>A (p.Asp3173Glu)
5g.13752246T>ACA3202097DNAH5c.10916A>T (p.Asp3639Val)
c.10871A>T (p.Asp3624Val)
c.11024A>T (p.Asp3675Val)
c.9929A>T (p.Asp3310Val)
c.6113A>T (p.Asp2038Val)
c.5666A>T (p.Asp1889Val)
c.5003A>T (p.Asp1668Val)
c.9518A>T (p.Asp3173Val)
 dbSNP ExAC gnomAD v3 gnomAD v4
5g.13752246T>CCA359190342DNAH5c.10916A>G (p.Asp3639Gly)
c.10871A>G (p.Asp3624Gly)
c.11024A>G (p.Asp3675Gly)
c.9929A>G (p.Asp3310Gly)
c.6113A>G (p.Asp2038Gly)
c.5666A>G (p.Asp1889Gly)
c.5003A>G (p.Asp1668Gly)
c.9518A>G (p.Asp3173Gly)
 gnomAD v4
5g.13752246T>GCA359190344DNAH5c.10916A>C (p.Asp3639Ala)
c.10871A>C (p.Asp3624Ala)
c.11024A>C (p.Asp3675Ala)
c.9929A>C (p.Asp3310Ala)
c.6113A>C (p.Asp2038Ala)
c.5666A>C (p.Asp1889Ala)
c.5003A>C (p.Asp1668Ala)
c.9518A>C (p.Asp3173Ala)
5g.13752246T=CA1528422957DNAH5c.10916A= (p.Asp3639=)
c.10871A= (p.Asp3624=)
c.11024A= (p.Asp3675=)
c.9929A= (p.Asp3310=)
c.6113A= (p.Asp2038=)
c.5666A= (p.Asp1889=)
c.5003A= (p.Asp1668=)
c.9518A= (p.Asp3173=)
5g.13752247C>ACA359190345DNAH5c.10915G>T (p.Asp3639Tyr)
c.10870G>T (p.Asp3624Tyr)
c.11023G>T (p.Asp3675Tyr)
c.9928G>T (p.Asp3310Tyr)
c.6112G>T (p.Asp2038Tyr)
c.5665G>T (p.Asp1889Tyr)
c.5002G>T (p.Asp1668Tyr)
c.9517G>T (p.Asp3173Tyr)
5g.13752247C>GCA359190346DNAH5c.10915G>C (p.Asp3639His)
c.10870G>C (p.Asp3624His)
c.11023G>C (p.Asp3675His)
c.9928G>C (p.Asp3310His)
c.6112G>C (p.Asp2038His)
c.5665G>C (p.Asp1889His)
c.5002G>C (p.Asp1668His)
c.9517G>C (p.Asp3173His)
5g.13752247C>TCA359190347DNAH5c.10915G>A (p.Asp3639Asn)
c.10870G>A (p.Asp3624Asn)
c.11023G>A (p.Asp3675Asn)
c.9928G>A (p.Asp3310Asn)
c.6112G>A (p.Asp2038Asn)
c.5665G>A (p.Asp1889Asn)
c.5002G>A (p.Asp1668Asn)
c.9517G>A (p.Asp3173Asn)
 COSMIC
5g.13752248T>ACA359190350DNAH5c.10914A>T (p.Glu3638Asp)
c.10869A>T (p.Glu3623Asp)
c.11022A>T (p.Glu3674Asp)
c.9927A>T (p.Glu3309Asp)
c.6111A>T (p.Glu2037Asp)
c.5664A>T (p.Glu1888Asp)
c.5001A>T (p.Glu1667Asp)
c.9516A>T (p.Glu3172Asp)
5g.13752248T>CCA3202098DNAH5c.10914A>G (p.Glu3638=)
c.10869A>G (p.Glu3623=)
c.11022A>G (p.Glu3674=)
c.9927A>G (p.Glu3309=)
c.6111A>G (p.Glu2037=)
c.5664A>G (p.Glu1888=)
c.5001A>G (p.Glu1667=)
c.9516A>G (p.Glu3172=)
 dbSNP ExAC gnomAD v4
5g.13752248T>GCA359190354DNAH5c.10914A>C (p.Glu3638Asp)
c.10869A>C (p.Glu3623Asp)
c.11022A>C (p.Glu3674Asp)
c.9927A>C (p.Glu3309Asp)
c.6111A>C (p.Glu2037Asp)
c.5664A>C (p.Glu1888Asp)
c.5001A>C (p.Glu1667Asp)
c.9516A>C (p.Glu3172Asp)
5g.13752248T=CA1528422958DNAH5c.10914A= (p.Glu3638=)
c.10869A= (p.Glu3623=)
c.11022A= (p.Glu3674=)
c.9927A= (p.Glu3309=)
c.6111A= (p.Glu2037=)
c.5664A= (p.Glu1888=)
c.5001A= (p.Glu1667=)
c.9516A= (p.Glu3172=)
5g.13752249T>ACA359190364DNAH5c.10913A>T (p.Glu3638Val)
c.10868A>T (p.Glu3623Val)
c.11021A>T (p.Glu3674Val)
c.9926A>T (p.Glu3309Val)
c.6110A>T (p.Glu2037Val)
c.5663A>T (p.Glu1888Val)
c.5000A>T (p.Glu1667Val)
c.9515A>T (p.Glu3172Val)
5g.13752249T>CCA359190359DNAH5c.10913A>G (p.Glu3638Gly)
c.10868A>G (p.Glu3623Gly)
c.11021A>G (p.Glu3674Gly)
c.9926A>G (p.Glu3309Gly)
c.6110A>G (p.Glu2037Gly)
c.5663A>G (p.Glu1888Gly)
c.5000A>G (p.Glu1667Gly)
c.9515A>G (p.Glu3172Gly)
 gnomAD v4
5g.13752249T>GCA359190357DNAH5c.10913A>C (p.Glu3638Ala)
c.10868A>C (p.Glu3623Ala)
c.11021A>C (p.Glu3674Ala)
c.9926A>C (p.Glu3309Ala)
c.6110A>C (p.Glu2037Ala)
c.5663A>C (p.Glu1888Ala)
c.5000A>C (p.Glu1667Ala)
c.9515A>C (p.Glu3172Ala)
5g.13752250C>ACA359190367DNAH5c.10912G>T (p.Glu3638Ter)
c.10867G>T (p.Glu3623Ter)
c.11020G>T (p.Glu3674Ter)
c.9925G>T (p.Glu3309Ter)
c.6109G>T (p.Glu2037Ter)
c.5662G>T (p.Glu1888Ter)
c.4999G>T (p.Glu1667Ter)
c.9514G>T (p.Glu3172Ter)
5g.13752250C=CA1528422959DNAH5c.10912G= (p.Glu3638=)
c.10867G= (p.Glu3623=)
c.11020G= (p.Glu3674=)
c.9925G= (p.Glu3309=)
c.6109G= (p.Glu2037=)
c.5662G= (p.Glu1888=)
c.4999G= (p.Glu1667=)
c.9514G= (p.Glu3172=)
5g.13752250C>GCA359190371DNAH5c.10912G>C (p.Glu3638Gln)
c.10867G>C (p.Glu3623Gln)
c.11020G>C (p.Glu3674Gln)
c.9925G>C (p.Glu3309Gln)
c.6109G>C (p.Glu2037Gln)
c.5662G>C (p.Glu1888Gln)
c.4999G>C (p.Glu1667Gln)
c.9514G>C (p.Glu3172Gln)
5g.13752250C>TCA113917825DNAH5c.10912G>A (p.Glu3638Lys)
c.10867G>A (p.Glu3623Lys)
c.11020G>A (p.Glu3674Lys)
c.9925G>A (p.Glu3309Lys)
c.6109G>A (p.Glu2037Lys)
c.5662G>A (p.Glu1888Lys)
c.4999G>A (p.Glu1667Lys)
c.9514G>A (p.Glu3172Lys)
 dbSNP
5g.13752251C>ACA443248716DNAH5c.10911G>T (p.Leu3637=)
c.10866G>T (p.Leu3622=)
c.11019G>T (p.Leu3673=)
c.9924G>T (p.Leu3308=)
c.6108G>T (p.Leu2036=)
c.5661G>T (p.Leu1887=)
c.4998G>T (p.Leu1666=)
c.9513G>T (p.Leu3171=)
5g.13752251C>GCA443248718DNAH5c.10911G>C (p.Leu3637=)
c.10866G>C (p.Leu3622=)
c.11019G>C (p.Leu3673=)
c.9924G>C (p.Leu3308=)
c.6108G>C (p.Leu2036=)
c.5661G>C (p.Leu1887=)
c.4998G>C (p.Leu1666=)
c.9513G>C (p.Leu3171=)
5g.13752251C>TCA443248717DNAH5c.10911G>A (p.Leu3637=)
c.10866G>A (p.Leu3622=)
c.11019G>A (p.Leu3673=)
c.9924G>A (p.Leu3308=)
c.6108G>A (p.Leu2036=)
c.5661G>A (p.Leu1887=)
c.4998G>A (p.Leu1666=)
c.9513G>A (p.Leu3171=)
5g.13752251_13752252delinsCACA1528422960DNAH5c.10910_10911delinsTG (p.Leu3637=)
c.10865_10866delinsTG (p.Leu3622=)
c.11018_11019delinsTG (p.Leu3673=)
c.9923_9924delinsTG (p.Leu3308=)
c.6107_6108delinsTG (p.Leu2036=)
c.5660_5661delinsTG (p.Leu1887=)
c.4997_4998delinsTG (p.Leu1666=)
c.9512_9513delinsTG (p.Leu3171=)
5g.13752252delCA3202099DNAH5c.10910del (p.Leu3637ArgfsTer20)
c.10865del (p.Leu3622ArgfsTer20)
c.11018del (p.Leu3673ArgfsTer20)
c.9923del (p.Leu3308ArgfsTer20)
c.6107del (p.Leu2036ArgfsTer20)
c.5660del (p.Leu1887ArgfsTer20)
c.4997del (p.Leu1666ArgfsTer20)
c.9512del (p.Leu3171ArgfsTer20)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13752252A=CA1528422961DNAH5c.10910T= (p.Leu3637=)
c.10865T= (p.Leu3622=)
c.11018T= (p.Leu3673=)
c.9923T= (p.Leu3308=)
c.6107T= (p.Leu2036=)
c.5660T= (p.Leu1887=)
c.4997T= (p.Leu1666=)
c.9512T= (p.Leu3171=)
5g.13752252A>CCA359190375DNAH5c.10910T>G (p.Leu3637Arg)
c.10865T>G (p.Leu3622Arg)
c.11018T>G (p.Leu3673Arg)
c.9923T>G (p.Leu3308Arg)
c.6107T>G (p.Leu2036Arg)
c.5660T>G (p.Leu1887Arg)
c.4997T>G (p.Leu1666Arg)
c.9512T>G (p.Leu3171Arg)
5g.13752252A>GCA359190380DNAH5c.10910T>C (p.Leu3637Pro)
c.10865T>C (p.Leu3622Pro)
c.11018T>C (p.Leu3673Pro)
c.9923T>C (p.Leu3308Pro)
c.6107T>C (p.Leu2036Pro)
c.5660T>C (p.Leu1887Pro)
c.4997T>C (p.Leu1666Pro)
c.9512T>C (p.Leu3171Pro)
5g.13752252A>TCA359190386DNAH5c.10910T>A (p.Leu3637Gln)
c.10865T>A (p.Leu3622Gln)
c.11018T>A (p.Leu3673Gln)
c.9923T>A (p.Leu3308Gln)
c.6107T>A (p.Leu2036Gln)
c.5660T>A (p.Leu1887Gln)
c.4997T>A (p.Leu1666Gln)
c.9512T>A (p.Leu3171Gln)
 dbSNP gnomAD v4
5g.13752253G>ACA3202100DNAH5c.10909C>T (p.Leu3637=)
c.10864C>T (p.Leu3622=)
c.11017C>T (p.Leu3673=)
c.9922C>T (p.Leu3308=)
c.6106C>T (p.Leu2036=)
c.5659C>T (p.Leu1887=)
c.4996C>T (p.Leu1666=)
c.9511C>T (p.Leu3171=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13752253G>CCA359190389DNAH5c.10909C>G (p.Leu3637Val)
c.10864C>G (p.Leu3622Val)
c.11017C>G (p.Leu3673Val)
c.9922C>G (p.Leu3308Val)
c.6106C>G (p.Leu2036Val)
c.5659C>G (p.Leu1887Val)
c.4996C>G (p.Leu1666Val)
c.9511C>G (p.Leu3171Val)
 gnomAD v4
5g.13752253G=CA1528422962DNAH5c.10909C= (p.Leu3637=)
c.10864C= (p.Leu3622=)
c.11017C= (p.Leu3673=)
c.9922C= (p.Leu3308=)
c.6106C= (p.Leu2036=)
c.5659C= (p.Leu1887=)
c.4996C= (p.Leu1666=)
c.9511C= (p.Leu3171=)
5g.13752253G>TCA359190391DNAH5c.10909C>A (p.Leu3637Met)
c.10864C>A (p.Leu3622Met)
c.11017C>A (p.Leu3673Met)
c.9922C>A (p.Leu3308Met)
c.6106C>A (p.Leu2036Met)
c.5659C>A (p.Leu1887Met)
c.4996C>A (p.Leu1666Met)
c.9511C>A (p.Leu3171Met)
 dbSNP
5g.13752254delCA359190393DNAH5c.10909del (p.Leu3637TrpfsTer20)
c.10864del (p.Leu3622TrpfsTer20)
c.11017del (p.Leu3673TrpfsTer20)
c.9922del (p.Leu3308TrpfsTer20)
c.6106del (p.Leu2036TrpfsTer20)
c.5659del (p.Leu1887TrpfsTer20)
c.4996del (p.Leu1666TrpfsTer20)
c.9511del (p.Leu3171TrpfsTer20)
5g.13752254G>ACA443248722DNAH5c.10908C>T (p.His3636=)
c.10863C>T (p.His3621=)
c.11016C>T (p.His3672=)
c.9921C>T (p.His3307=)
c.6105C>T (p.His2035=)
c.5658C>T (p.His1886=)
c.4995C>T (p.His1665=)
c.9510C>T (p.His3170=)
 gnomAD v4
5g.13752254G>CCA359190399DNAH5c.10908C>G (p.His3636Gln)
c.10863C>G (p.His3621Gln)
c.11016C>G (p.His3672Gln)
c.9921C>G (p.His3307Gln)
c.6105C>G (p.His2035Gln)
c.5658C>G (p.His1886Gln)
c.4995C>G (p.His1665Gln)
c.9510C>G (p.His3170Gln)
5g.13752254G>TCA359190401DNAH5c.10908C>A (p.His3636Gln)
c.10863C>A (p.His3621Gln)
c.11016C>A (p.His3672Gln)
c.9921C>A (p.His3307Gln)
c.6105C>A (p.His2035Gln)
c.5658C>A (p.His1886Gln)
c.4995C>A (p.His1665Gln)
c.9510C>A (p.His3170Gln)

Number of alleles fetched