Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.21710502A>GCA2578843096DNAH11c.6684-51A>G (n.6684-51A>G)
c.6705-51A>G (n.6705-51A>G)
gnomAD v4
7g.21710503A>GCA2681984656DNAH11c.6684-50A>G (n.6684-50A>G)
c.6705-50A>G (n.6705-50A>G)
gnomAD v4
7g.21710504T>CCA2681984657DNAH11c.6684-49T>C (n.6684-49T>C)
c.6705-49T>C (n.6705-49T>C)
gnomAD v4
7g.21710506T>ACA836652072DNAH11c.6684-47T>A (n.6684-47T>A)
c.6705-47T>A (n.6705-47T>A)
dbSNP gnomAD v3 gnomAD v4
7g.21710506T>CCA572920593DNAH11c.6684-47T>C (n.6684-47T>C)
c.6705-47T>C (n.6705-47T>C)
dbSNP gnomAD v2 gnomAD v4
7g.21710506T=CA1693636139DNAH11c.6684-47T= (n.6684-47T=)
c.6705-47T= (n.6705-47T=)
7g.21710507C>ACA2681984658DNAH11c.6684-46C>A (n.6684-46C>A)
c.6705-46C>A (n.6705-46C>A)
gnomAD v4
7g.21710508A=CA1693636143DNAH11c.6684-45A= (n.6684-45A=)
c.6705-45A= (n.6705-45A=)
7g.21710508A>CCA1099223272DNAH11c.6684-45A>C (n.6684-45A>C)
c.6705-45A>C (n.6705-45A>C)
dbSNP gnomAD v3 gnomAD v4
7g.21710508A>GCA1099223280DNAH11c.6684-45A>G (n.6684-45A>G)
c.6705-45A>G (n.6705-45A>G)
dbSNP gnomAD v3 gnomAD v4
7g.21710509A=CA1693636146DNAH11c.6684-44A= (n.6684-44A=)
c.6705-44A= (n.6705-44A=)
7g.21710509A>GCA572920595DNAH11c.6684-44A>G (n.6684-44A>G)
c.6705-44A>G (n.6705-44A>G)
dbSNP gnomAD v2 gnomAD v4
7g.21710511C>ACA2681984659DNAH11c.6684-42C>A (n.6684-42C>A)
c.6705-42C>A (n.6705-42C>A)
gnomAD v4
7g.21710511C>GCA2578843097DNAH11c.6684-42C>G (n.6684-42C>G)
c.6705-42C>G (n.6705-42C>G)
gnomAD v4
7g.21710513A=CA1693636149DNAH11c.6684-40A= (n.6684-40A=)
c.6705-40A= (n.6705-40A=)
7g.21710513A>GCA572920596DNAH11c.6684-40A>G (n.6684-40A>G)
c.6705-40A>G (n.6705-40A>G)
dbSNP gnomAD v2 gnomAD v4
7g.21710514_21710519delinsTCGTAGCA1693636151DNAH11c.6684-39_6684-34delinsTCGTAG (n.6684-39_6684-34delinsTCGTAG)
c.6705-39_6705-34delinsTCGTAG (n.6705-39_6705-34delinsTCGTAG)
7g.21710515C>ACA2578843098DNAH11c.6684-38C>A (n.6684-38C>A)
c.6705-38C>A (n.6705-38C>A)
gnomAD v4
7g.21710515C=CA1693636158DNAH11c.6684-38C= (n.6684-38C=)
c.6705-38C= (n.6705-38C=)
7g.21710515C>TCA4180945DNAH11c.6684-38C>T (n.6684-38C>T)
c.6705-38C>T (n.6705-38C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.21710515_21710519delCA836652083DNAH11c.6684-38_6684-34del (n.6684-38_6684-34del)
c.6705-38_6705-34del (n.6705-38_6705-34del)
dbSNP gnomAD v3 gnomAD v4
7g.21710516G>ACA4180946DNAH11c.6684-37G>A (n.6684-37G>A)
c.6705-37G>A (n.6705-37G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.21710516G>CCA1693636185DNAH11c.6684-37G>C (n.6684-37G>C)
c.6705-37G>C (n.6705-37G>C)
dbSNP gnomAD v4
7g.21710516G=CA1693636162DNAH11c.6684-37G= (n.6684-37G=)
c.6705-37G= (n.6705-37G=)
7g.21710519G>CCA572920598DNAH11c.6684-34G>C (n.6684-34G>C)
c.6705-34G>C (n.6705-34G>C)
dbSNP gnomAD v2 gnomAD v4
7g.21710519G=CA1693636188DNAH11c.6684-34G= (n.6684-34G=)
c.6705-34G= (n.6705-34G=)
7g.21710519G>TCA2681984660DNAH11c.6684-34G>T (n.6684-34G>T)
c.6705-34G>T (n.6705-34G>T)
gnomAD v4
7g.21710520A>CCA2681984661DNAH11c.6684-33A>C (n.6684-33A>C)
c.6705-33A>C (n.6705-33A>C)
gnomAD v4
7g.21710521A=CA1693636189DNAH11c.6684-32A= (n.6684-32A=)
c.6705-32A= (n.6705-32A=)
7g.21710521_21710522insTCA1099223288DNAH11c.6684-32_6684-31insT (n.6684-32_6684-31insT)
c.6705-32_6705-31insT (n.6705-32_6705-31insT)
dbSNP gnomAD v3 gnomAD v4
7g.21710523T>CCA2681984662DNAH11c.6684-30T>C (n.6684-30T>C)
c.6705-30T>C (n.6705-30T>C)
gnomAD v4
7g.21710523T>GCA4180947DNAH11c.6684-30T>G (n.6684-30T>G)
c.6705-30T>G (n.6705-30T>G)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.21710523T=CA1693636191DNAH11c.6684-30T= (n.6684-30T=)
c.6705-30T= (n.6705-30T=)
7g.21710524A>GCA2681984664DNAH11c.6684-29A>G (n.6684-29A>G)
c.6705-29A>G (n.6705-29A>G)
gnomAD v4
7g.21710526delCA2681984663DNAH11c.6684-27del (n.6684-27del)
c.6705-27del (n.6705-27del)
gnomAD v4
7g.21710526A>GCA2774677730DNAH11c.6684-27A>G (n.6684-27A>G)
c.6705-27A>G (n.6705-27A>G)
7g.21710527C>ACA2681984665DNAH11c.6684-26C>A (n.6684-26C>A)
c.6705-26C>A (n.6705-26C>A)
gnomAD v4
7g.21710527C=CA1693636196DNAH11c.6684-26C= (n.6684-26C=)
c.6705-26C= (n.6705-26C=)
7g.21710527C>TCA1099223289DNAH11c.6684-26C>T (n.6684-26C>T)
c.6705-26C>T (n.6705-26C>T)
dbSNP gnomAD v3 gnomAD v4
7g.21710528A=CA1693636203DNAH11c.6684-25A= (n.6684-25A=)
c.6705-25A= (n.6705-25A=)
7g.21710528A>GCA572920601DNAH11c.6684-25A>G (n.6684-25A>G)
c.6705-25A>G (n.6705-25A>G)
dbSNP gnomAD v2 gnomAD v4
7g.21710529G>ACA1693636206DNAH11c.6684-24G>A (n.6684-24G>A)
c.6705-24G>A (n.6705-24G>A)
dbSNP gnomAD v4
7g.21710529G=CA1693636205DNAH11c.6684-24G= (n.6684-24G=)
c.6705-24G= (n.6705-24G=)
7g.21710529G>TCA2681984666DNAH11c.6684-24G>T (n.6684-24G>T)
c.6705-24G>T (n.6705-24G>T)
gnomAD v4
7g.21710530C>ACA2681984667DNAH11c.6684-23C>A (n.6684-23C>A)
c.6705-23C>A (n.6705-23C>A)
gnomAD v4
7g.21710530C>GCA2681984668DNAH11c.6684-23C>G (n.6684-23C>G)
c.6705-23C>G (n.6705-23C>G)
gnomAD v4
7g.21710531A=CA1693636208DNAH11c.6684-22A= (n.6684-22A=)
c.6705-22A= (n.6705-22A=)
7g.21710531A>GCA572920602DNAH11c.6684-22A>G (n.6684-22A>G)
c.6705-22A>G (n.6705-22A>G)
dbSNP gnomAD v2 gnomAD v4
7g.21710532C=CA1693636210DNAH11c.6684-21C= (n.6684-21C=)
c.6705-21C= (n.6705-21C=)
7g.21710532C>GCA4180948DNAH11c.6684-21C>G (n.6684-21C>G)
c.6705-21C>G (n.6705-21C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.21710533T>CCA4180949DNAH11c.6684-20T>C (n.6684-20T>C)
c.6705-20T>C (n.6705-20T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.21710533T=CA1693636213DNAH11c.6684-20T= (n.6684-20T=)
c.6705-20T= (n.6705-20T=)
7g.21710533_21710540delinsTCAACTACCA1693636214DNAH11c.6684-20_6684-13delinsTCAACTAC (n.6684-20_6684-13delinsTCAACTAC)
c.6705-20_6705-13delinsTCAACTAC (n.6705-20_6705-13delinsTCAACTAC)
7g.21710534C>GCA2681984669DNAH11c.6684-19C>G (n.6684-19C>G)
c.6705-19C>G (n.6705-19C>G)
ClinVar gnomAD v4
7g.21710534_21710540delCA1693636218DNAH11c.6684-19_6684-13del (n.6684-19_6684-13del)
c.6705-19_6705-13del (n.6705-19_6705-13del)
dbSNP gnomAD v4
7g.21710535A>CCA2774677731DNAH11c.6684-18A>C (n.6684-18A>C)
c.6705-18A>C (n.6705-18A>C)
7g.21710536A>GCA2681984670DNAH11c.6684-17A>G (n.6684-17A>G)
c.6705-17A>G (n.6705-17A>G)
gnomAD v4
7g.21710537C>ACA2681984671DNAH11c.6684-16C>A (n.6684-16C>A)
c.6705-16C>A (n.6705-16C>A)
gnomAD v4
7g.21710537C=CA1693636224DNAH11c.6684-16C= (n.6684-16C=)
c.6705-16C= (n.6705-16C=)
7g.21710537C>GCA1099223291DNAH11c.6684-16C>G (n.6684-16C>G)
c.6705-16C>G (n.6705-16C>G)
dbSNP gnomAD v3 gnomAD v4
7g.21710537C>TCA2681984672DNAH11c.6684-16C>T (n.6684-16C>T)
c.6705-16C>T (n.6705-16C>T)
gnomAD v4
7g.21710538T>CCA1099223301DNAH11c.6684-15T>C (n.6684-15T>C)
c.6705-15T>C (n.6705-15T>C)
dbSNP gnomAD v3 gnomAD v4
7g.21710538T=CA1693636226DNAH11c.6684-15T= (n.6684-15T=)
c.6705-15T= (n.6705-15T=)
7g.21710539A=CA1693636229DNAH11c.6684-14A= (n.6684-14A=)
c.6705-14A= (n.6705-14A=)
7g.21710539A>GCA4180950DNAH11c.6684-14A>G (n.6684-14A>G)
c.6705-14A>G (n.6705-14A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.21710540C>TCA2681984673DNAH11c.6684-13C>T (n.6684-13C>T)
c.6705-13C>T (n.6705-13C>T)
ClinVar gnomAD v4
7g.21710541A=CA1693636233DNAH11c.6684-12A= (n.6684-12A=)
c.6705-12A= (n.6705-12A=)
7g.21710541A>GCA2681984674DNAH11c.6684-12A>G (n.6684-12A>G)
c.6705-12A>G (n.6705-12A>G)
gnomAD v4
7g.21710541A>TCA1099223308DNAH11c.6684-12A>T (n.6684-12A>T)
c.6705-12A>T (n.6705-12A>T)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.21710543T>GCA1693636237DNAH11c.6684-10T>G (n.6684-10T>G)
c.6705-10T>G (n.6705-10T>G)
dbSNP
7g.21710543T=CA1693636238DNAH11c.6684-10T= (n.6684-10T=)
c.6705-10T= (n.6705-10T=)
7g.21710544A>GCA2739266316DNAH11c.6684-9A>G (n.6684-9A>G)
c.6705-9A>G (n.6705-9A>G)
ClinVar
7g.21710546A=CA1693636247DNAH11c.6684-7A= (n.6684-7A=)
c.6705-7A= (n.6705-7A=)
7g.21710546A>GCA4180951DNAH11c.6684-7A>G (n.6684-7A>G)
c.6705-7A>G (n.6705-7A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.21710547T>CCA155081388DNAH11c.6684-6T>C (n.6684-6T>C)
c.6705-6T>C (n.6705-6T>C)
dbSNP gnomAD v4
7g.21710547T=CA1693636254DNAH11c.6684-6T= (n.6684-6T=)
c.6705-6T= (n.6705-6T=)
7g.21710548A=CA1693636260DNAH11c.6684-5A= (n.6684-5A=)
c.6705-5A= (n.6705-5A=)
7g.21710548A>GCA4180952DNAH11c.6684-5A>G (n.6684-5A>G)
c.6705-5A>G (n.6705-5A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.21710551A>CCA366939838DNAH11c.6684-2A>C (n.6684-2A>C)
c.6705-2A>C (n.6705-2A>C)
7g.21710551A>GCA366939835DNAH11c.6684-2A>G (n.6684-2A>G)
c.6705-2A>G (n.6705-2A>G)
7g.21710551A>TCA366939837DNAH11c.6684-2A>T (n.6684-2A>T)
c.6705-2A>T (n.6705-2A>T)
7g.21710552G>ACA155081390DNAH11c.6684-1G>A (n.6684-1G>A)
c.6705-1G>A (n.6705-1G>A)
dbSNP gnomAD v4
7g.21710552G>CCA366939840DNAH11c.6684-1G>C (n.6684-1G>C)
c.6705-1G>C (n.6705-1G>C)
7g.21710552G=CA1693636268DNAH11c.6684-1G= (n.6684-1G=)
c.6705-1G= (n.6705-1G=)
7g.21710552G>TCA366939842DNAH11c.6684-1G>T (n.6684-1G>T)
c.6705-1G>T (n.6705-1G>T)
7g.21710553G>ACA453965428DNAH11c.6684G>A (p.Lys2228=)
c.6705G>A (p.Lys2235=)
7g.21710553G>CCA366939844DNAH11c.6684G>C (p.Lys2228Asn)
c.6705G>C (p.Lys2235Asn)
7g.21710553G>TCA366939846DNAH11c.6684G>T (p.Lys2228Asn)
c.6705G>T (p.Lys2235Asn)
gnomAD v4
7g.21710554A>CCA366939852DNAH11c.6685A>C (p.Ile2229Leu)
c.6706A>C (p.Ile2236Leu)
7g.21710554A>GCA366939848DNAH11c.6685A>G (p.Ile2229Val)
c.6706A>G (p.Ile2236Val)
7g.21710554A>TCA366939850DNAH11c.6685A>T (p.Ile2229Phe)
c.6706A>T (p.Ile2236Phe)
7g.21710555T>ACA366939853DNAH11c.6686T>A (p.Ile2229Asn)
c.6707T>A (p.Ile2236Asn)
7g.21710555T>CCA366939854DNAH11c.6686T>C (p.Ile2229Thr)
c.6707T>C (p.Ile2236Thr)
7g.21710555T>GCA366939856DNAH11c.6686T>G (p.Ile2229Ser)
c.6707T>G (p.Ile2236Ser)
gnomAD v4
7g.21710556T>ACA453965430DNAH11c.6687T>A (p.Ile2229=)
c.6708T>A (p.Ile2236=)
7g.21710556T>CCA453965429DNAH11c.6687T>C (p.Ile2229=)
c.6708T>C (p.Ile2236=)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.21710556T>GCA366939858DNAH11c.6687T>G (p.Ile2229Met)
c.6708T>G (p.Ile2236Met)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.21710556T=CA1693636273DNAH11c.6687T= (p.Ile2229=)
c.6708T= (p.Ile2236=)
7g.21710557delCA2681984675DNAH11c.6688del (p.Val2230PhefsTer6)
c.6709del (p.Val2237PhefsTer6)
gnomAD v4
7g.21710557G>ACA366939860DNAH11c.6688G>A (p.Val2230Ile)
c.6709G>A (p.Val2237Ile)
7g.21710557G>CCA366939861DNAH11c.6688G>C (p.Val2230Leu)
c.6709G>C (p.Val2237Leu)
dbSNP gnomAD v4
7g.21710557G=CA1693636277DNAH11c.6688G= (p.Val2230=)
c.6709G= (p.Val2237=)
7g.21710557G>TCA366939863DNAH11c.6688G>T (p.Val2230Phe)
c.6709G>T (p.Val2237Phe)
7g.21710558T>ACA4180953DNAH11c.6689T>A (p.Val2230Asp)
c.6710T>A (p.Val2237Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.21710558T>CCA366939865DNAH11c.6689T>C (p.Val2230Ala)
c.6710T>C (p.Val2237Ala)
gnomAD v3 gnomAD v4
7g.21710558T>GCA366939867DNAH11c.6689T>G (p.Val2230Gly)
c.6710T>G (p.Val2237Gly)
7g.21710558T=CA1693636280DNAH11c.6689T= (p.Val2230=)
c.6710T= (p.Val2237=)
7g.21710559T>ACA453965434DNAH11c.6690T>A (p.Val2230=)
c.6711T>A (p.Val2237=)
7g.21710559T>CCA453965435DNAH11c.6690T>C (p.Val2230=)
c.6711T>C (p.Val2237=)
7g.21710559T>GCA453965436DNAH11c.6690T>G (p.Val2230=)
c.6711T>G (p.Val2237=)
7g.21710560T>ACA4180954DNAH11c.6691T>A (p.Tyr2231Asn)
c.6712T>A (p.Tyr2238Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.21710560T>CCA366939870DNAH11c.6691T>C (p.Tyr2231His)
c.6712T>C (p.Tyr2238His)
7g.21710560T>GCA366939871DNAH11c.6691T>G (p.Tyr2231Asp)
c.6712T>G (p.Tyr2238Asp)
7g.21710560T=CA1693636282DNAH11c.6691T= (p.Tyr2231=)
c.6712T= (p.Tyr2238=)
7g.21710561A>CCA366939873DNAH11c.6692A>C (p.Tyr2231Ser)
c.6713A>C (p.Tyr2238Ser)
7g.21710561A>GCA366939876DNAH11c.6692A>G (p.Tyr2231Cys)
c.6713A>G (p.Tyr2238Cys)
gnomAD v4
7g.21710561A>TCA366939875DNAH11c.6692A>T (p.Tyr2231Phe)
c.6713A>T (p.Tyr2238Phe)
7g.21710562C>ACA366939878DNAH11c.6693C>A (p.Tyr2231Ter)
c.6714C>A (p.Tyr2238Ter)
7g.21710562C=CA1693636285DNAH11c.6693C= (p.Tyr2231=)
c.6714C= (p.Tyr2238=)
7g.21710562C>GCA366939880DNAH11c.6693C>G (p.Tyr2231Ter)
c.6714C>G (p.Tyr2238Ter)
ClinVar gnomAD v4
7g.21710562C>TCA155081403DNAH11c.6693C>T (p.Tyr2231=)
c.6714C>T (p.Tyr2238=)
dbSNP gnomAD v4
7g.21710563T>ACA366939883DNAH11c.6694T>A (p.Ser2232Thr)
c.6715T>A (p.Ser2239Thr)
7g.21710563T>CCA366939884DNAH11c.6694T>C (p.Ser2232Pro)
c.6715T>C (p.Ser2239Pro)
7g.21710563T>GCA366939886DNAH11c.6694T>G (p.Ser2232Ala)
c.6715T>G (p.Ser2239Ala)
7g.21710564C>ACA366939889DNAH11c.6695C>A (p.Ser2232Tyr)
c.6716C>A (p.Ser2239Tyr)
dbSNP gnomAD v3 gnomAD v4
7g.21710564C=CA1693636288DNAH11c.6695C= (p.Ser2232=)
c.6716C= (p.Ser2239=)
7g.21710564C>GCA366939892DNAH11c.6695C>G (p.Ser2232Cys)
c.6716C>G (p.Ser2239Cys)
7g.21710564C>TCA366939894DNAH11c.6695C>T (p.Ser2232Phe)
c.6716C>T (p.Ser2239Phe)
dbSNP gnomAD v4
7g.21710565T>ACA453965438DNAH11c.6696T>A (p.Ser2232=)
c.6717T>A (p.Ser2239=)
7g.21710565T>CCA453965439DNAH11c.6696T>C (p.Ser2232=)
c.6717T>C (p.Ser2239=)
gnomAD v4
7g.21710565T>GCA453965440DNAH11c.6696T>G (p.Ser2232=)
c.6717T>G (p.Ser2239=)
7g.21710566dupCA2681984676DNAH11c.6697dup (p.Tyr2233LeufsTer17)
c.6718dup (p.Tyr2240LeufsTer17)
gnomAD v4
7g.21710569_21710573delCA2681984677DNAH11c.6700_6704del (p.Phe2234ArgfsTer14)
c.6721_6725del (p.Phe2241ArgfsTer14)
gnomAD v4
7g.21710566T>ACA366939898DNAH11c.6697T>A (p.Tyr2233Asn)
c.6718T>A (p.Tyr2240Asn)
7g.21710566T>CCA366939901DNAH11c.6697T>C (p.Tyr2233His)
c.6718T>C (p.Tyr2240His)
7g.21710566T>GCA366939902DNAH11c.6697T>G (p.Tyr2233Asp)
c.6718T>G (p.Tyr2240Asp)
7g.21710567A=CA1693636294DNAH11c.6698A= (p.Tyr2233=)
c.6719A= (p.Tyr2240=)
7g.21710567A>CCA366939910DNAH11c.6698A>C (p.Tyr2233Ser)
c.6719A>C (p.Tyr2240Ser)
dbSNP gnomAD v3 gnomAD v4
7g.21710567A>GCA4180955DNAH11c.6698A>G (p.Tyr2233Cys)
c.6719A>G (p.Tyr2240Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.21710567A>TCA366939906DNAH11c.6698A>T (p.Tyr2233Phe)
c.6719A>T (p.Tyr2240Phe)
7g.21710568T>ACA366939912DNAH11c.6699T>A (p.Tyr2233Ter)
c.6720T>A (p.Tyr2240Ter)
7g.21710568T>CCA4180956DNAH11c.6699T>C (p.Tyr2233=)
c.6720T>C (p.Tyr2240=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.21710568T>GCA366939915DNAH11c.6699T>G (p.Tyr2233Ter)
c.6720T>G (p.Tyr2240Ter)
COSMIC COSMIC
7g.21710568T=CA1693636308DNAH11c.6699T= (p.Tyr2233=)
c.6720T= (p.Tyr2240=)
7g.21710569T>ACA366939918DNAH11c.6700T>A (p.Phe2234Ile)
c.6721T>A (p.Phe2241Ile)
7g.21710569T>CCA366939920DNAH11c.6700T>C (p.Phe2234Leu)
c.6721T>C (p.Phe2241Leu)
7g.21710569T>GCA366939921DNAH11c.6700T>G (p.Phe2234Val)
c.6721T>G (p.Phe2241Val)
dbSNP
7g.21710569T=CA1693636314DNAH11c.6700T= (p.Phe2234=)
c.6721T= (p.Phe2241=)
7g.21710570T>ACA366939923DNAH11c.6701T>A (p.Phe2234Tyr)
c.6722T>A (p.Phe2241Tyr)
7g.21710570T>CCA366939926DNAH11c.6701T>C (p.Phe2234Ser)
c.6722T>C (p.Phe2241Ser)
7g.21710570T>GCA366939930DNAH11c.6701T>G (p.Phe2234Cys)
c.6722T>G (p.Phe2241Cys)
7g.21710571T>ACA366939934DNAH11c.6702T>A (p.Phe2234Leu)
c.6723T>A (p.Phe2241Leu)
7g.21710571T>CCA4180957DNAH11c.6702T>C (p.Phe2234=)
c.6723T>C (p.Phe2241=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.21710571T>GCA366939943DNAH11c.6702T>G (p.Phe2234Leu)
c.6723T>G (p.Phe2241Leu)
7g.21710571T=CA1693636321DNAH11c.6702T= (p.Phe2234=)
c.6723T= (p.Phe2241=)
7g.21710572A=CA1693636329DNAH11c.6703A= (p.Ile2235=)
c.6724A= (p.Ile2242=)
7g.21710572A>CCA366939947DNAH11c.6703A>C (p.Ile2235Leu)
c.6724A>C (p.Ile2242Leu)
7g.21710572A>GCA366939952DNAH11c.6703A>G (p.Ile2235Val)
c.6724A>G (p.Ile2242Val)
dbSNP gnomAD v4
7g.21710572A>TCA366939950DNAH11c.6703A>T (p.Ile2235Leu)
c.6724A>T (p.Ile2242Leu)
7g.21710573T>ACA366939955DNAH11c.6704T>A (p.Ile2235Lys)
c.6725T>A (p.Ile2242Lys)
7g.21710573T>CCA366939961DNAH11c.6704T>C (p.Ile2235Thr)
c.6725T>C (p.Ile2242Thr)
dbSNP gnomAD v4
7g.21710573T>GCA366939957DNAH11c.6704T>G (p.Ile2235Arg)
c.6725T>G (p.Ile2242Arg)
7g.21710573T=CA1693636333DNAH11c.6704T= (p.Ile2235=)
c.6725T= (p.Ile2242=)
7g.21710574A>CCA453965441DNAH11c.6705A>C (p.Ile2235=)
c.6726A>C (p.Ile2242=)
7g.21710574A>GCA366939966DNAH11c.6705A>G (p.Ile2235Met)
c.6726A>G (p.Ile2242Met)
7g.21710574A>TCA453965442DNAH11c.6705A>T (p.Ile2235=)
c.6726A>T (p.Ile2242=)
7g.21710575G>ACA366939971DNAH11c.6706G>A (p.Gly2236Ser)
c.6727G>A (p.Gly2243Ser)
7g.21710575G>CCA366939974DNAH11c.6706G>C (p.Gly2236Arg)
c.6727G>C (p.Gly2243Arg)
ClinVar dbSNP
7g.21710575G=CA1693636344DNAH11c.6706G= (p.Gly2236=)
c.6727G= (p.Gly2243=)
7g.21710575G>TCA366939978DNAH11c.6706G>T (p.Gly2236Cys)
c.6727G>T (p.Gly2243Cys)
dbSNP
7g.21710576G>ACA366939982DNAH11c.6707G>A (p.Gly2236Asp)
c.6728G>A (p.Gly2243Asp)
7g.21710576G>CCA366939986DNAH11c.6707G>C (p.Gly2236Ala)
c.6728G>C (p.Gly2243Ala)
7g.21710576G=CA1693636348DNAH11c.6707G= (p.Gly2236=)
c.6728G= (p.Gly2243=)
7g.21710576G>TCA366939989DNAH11c.6707G>T (p.Gly2236Val)
c.6728G>T (p.Gly2243Val)
dbSNP
7g.21710577T>ACA453965444DNAH11c.6708T>A (p.Gly2236=)
c.6729T>A (p.Gly2243=)
gnomAD v4
7g.21710577T>CCA453965445DNAH11c.6708T>C (p.Gly2236=)
c.6729T>C (p.Gly2243=)
7g.21710577T>GCA4180958DNAH11c.6708T>G (p.Gly2236=)
c.6729T>G (p.Gly2243=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.21710577T=CA1693636351DNAH11c.6708T= (p.Gly2236=)
c.6729T= (p.Gly2243=)
7g.21710578C>ACA366939995DNAH11c.6709C>A (p.Leu2237Ile)
c.6730C>A (p.Leu2244Ile)
7g.21710578C=CA1693636355DNAH11c.6709C= (p.Leu2237=)
c.6730C= (p.Leu2244=)
7g.21710578C>GCA4180959DNAH11c.6709C>G (p.Leu2237Val)
c.6730C>G (p.Leu2244Val)
ClinVar dbSNP ExAC gnomAD v2
7g.21710578C>TCA366940001DNAH11c.6709C>T (p.Leu2237Phe)
c.6730C>T (p.Leu2244Phe)
ClinVar dbSNP gnomAD v4
7g.21710579T>ACA366940009DNAH11c.6710T>A (p.Leu2237His)
c.6731T>A (p.Leu2244His)
7g.21710579T>CCA4180960DNAH11c.6710T>C (p.Leu2237Pro)
c.6731T>C (p.Leu2244Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.21710579T>GCA366940005DNAH11c.6710T>G (p.Leu2237Arg)
c.6731T>G (p.Leu2244Arg)
7g.21710579T=CA1693636361DNAH11c.6710T= (p.Leu2237=)
c.6731T= (p.Leu2244=)
7g.21710580C>ACA453965446DNAH11c.6711C>A (p.Leu2237=)
c.6732C>A (p.Leu2244=)
gnomAD v4
7g.21710580C>GCA453965447DNAH11c.6711C>G (p.Leu2237=)
c.6732C>G (p.Leu2244=)
7g.21710580C>TCA453965448DNAH11c.6711C>T (p.Leu2237=)
c.6732C>T (p.Leu2244=)
gnomAD v4
7g.21710581T>ACA366940016DNAH11c.6712T>A (p.Phe2238Ile)
c.6733T>A (p.Phe2245Ile)
7g.21710581T>CCA366940019DNAH11c.6712T>C (p.Phe2238Leu)
c.6733T>C (p.Phe2245Leu)
dbSNP
7g.21710581T>GCA366940024DNAH11c.6712T>G (p.Phe2238Val)
c.6733T>G (p.Phe2245Val)
dbSNP gnomAD v2 gnomAD v4
7g.21710581T=CA1693636366DNAH11c.6712T= (p.Phe2238=)
c.6733T= (p.Phe2245=)
7g.21710582T>ACA366940026DNAH11c.6713T>A (p.Phe2238Tyr)
c.6734T>A (p.Phe2245Tyr)
gnomAD v4
7g.21710582T>CCA366940030DNAH11c.6713T>C (p.Phe2238Ser)
c.6734T>C (p.Phe2245Ser)
7g.21710582T>GCA366940033DNAH11c.6713T>G (p.Phe2238Cys)
c.6734T>G (p.Phe2245Cys)
7g.21710583C>ACA366940036DNAH11c.6714C>A (p.Phe2238Leu)
c.6735C>A (p.Phe2245Leu)
7g.21710583C=CA1693636372DNAH11c.6714C= (p.Phe2238=)
c.6735C= (p.Phe2245=)
7g.21710583C>GCA4180961DNAH11c.6714C>G (p.Phe2238Leu)
c.6735C>G (p.Phe2245Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.21710583C>TCA453965449DNAH11c.6714C>T (p.Phe2238=)
c.6735C>T (p.Phe2245=)
gnomAD v4
7g.21710584T>ACA366940043DNAH11c.6715T>A (p.Ser2239Thr)
c.6736T>A (p.Ser2246Thr)
7g.21710584T>CCA366940045DNAH11c.6715T>C (p.Ser2239Pro)
c.6736T>C (p.Ser2246Pro)
7g.21710584T>GCA366940049DNAH11c.6715T>G (p.Ser2239Ala)
c.6736T>G (p.Ser2246Ala)
7g.21710585C>ACA366940067DNAH11c.6716C>A (p.Ser2239Ter)
c.6737C>A (p.Ser2246Ter)
7g.21710585C=CA1693636379DNAH11c.6716C= (p.Ser2239=)
c.6737C= (p.Ser2246=)
7g.21710585C>GCA366940064DNAH11c.6716C>G (p.Ser2239Ter)
c.6737C>G (p.Ser2246Ter)
7g.21710585C>TCA366940061DNAH11c.6716C>T (p.Ser2239Leu)
c.6737C>T (p.Ser2246Leu)
dbSNP gnomAD v3 gnomAD v4
7g.21710586A=CA1693636385DNAH11c.6717A= (p.Ser2239=)
c.6738A= (p.Ser2246=)
7g.21710586A>CCA453965450DNAH11c.6717A>C (p.Ser2239=)
c.6738A>C (p.Ser2246=)
7g.21710586A>GCA4180962DNAH11c.6717A>G (p.Ser2239=)
c.6738A>G (p.Ser2246=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.21710586A>TCA453965451DNAH11c.6717A>T (p.Ser2239=)
c.6738A>T (p.Ser2246=)
7g.21710587T>ACA366940073DNAH11c.6718T>A (p.Ser2240Thr)
c.6739T>A (p.Ser2247Thr)
7g.21710587T>CCA366940077DNAH11c.6718T>C (p.Ser2240Pro)
c.6739T>C (p.Ser2247Pro)
7g.21710587T>GCA366940087DNAH11c.6718T>G (p.Ser2240Ala)
c.6739T>G (p.Ser2247Ala)
7g.21710588C>ACA366940091DNAH11c.6719C>A (p.Ser2240Tyr)
c.6740C>A (p.Ser2247Tyr)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.21710588C=CA1693636394DNAH11c.6719C= (p.Ser2240=)
c.6740C= (p.Ser2247=)
7g.21710588C>GCA366940094DNAH11c.6719C>G (p.Ser2240Cys)
c.6740C>G (p.Ser2247Cys)
7g.21710588C>TCA366940098DNAH11c.6719C>T (p.Ser2240Phe)
c.6740C>T (p.Ser2247Phe)
gnomAD v4
7g.21710589C>ACA453965452DNAH11c.6720C>A (p.Ser2240=)
c.6741C>A (p.Ser2247=)
7g.21710589C>GCA453965453DNAH11c.6720C>G (p.Ser2240=)
c.6741C>G (p.Ser2247=)
7g.21710589C>TCA453965454DNAH11c.6720C>T (p.Ser2240=)
c.6741C>T (p.Ser2247=)
7g.21710590A=CA1693636404DNAH11c.6721A= (p.Ile2241=)
c.6742A= (p.Ile2248=)
7g.21710590A>CCA4180964DNAH11c.6721A>C (p.Ile2241Leu)
c.6742A>C (p.Ile2248Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.21710590A>GCA4180963DNAH11c.6721A>G (p.Ile2241Val)
c.6742A>G (p.Ile2248Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.21710590A>TCA366940103DNAH11c.6721A>T (p.Ile2241Phe)
c.6742A>T (p.Ile2248Phe)
7g.21710591T>ACA366940107DNAH11c.6722T>A (p.Ile2241Asn)
c.6743T>A (p.Ile2248Asn)
7g.21710591T>CCA366940110DNAH11c.6722T>C (p.Ile2241Thr)
c.6743T>C (p.Ile2248Thr)
7g.21710591T>GCA366940114DNAH11c.6722T>G (p.Ile2241Ser)
c.6743T>G (p.Ile2248Ser)
7g.21710592T>ACA453965455DNAH11c.6723T>A (p.Ile2241=)
c.6744T>A (p.Ile2248=)
7g.21710592T>CCA453965456DNAH11c.6723T>C (p.Ile2241=)
c.6744T>C (p.Ile2248=)
7g.21710592T>GCA366940118DNAH11c.6723T>G (p.Ile2241Met)
c.6744T>G (p.Ile2248Met)
7g.21710593C>ACA366940123DNAH11c.6724C>A (p.Leu2242Ile)
c.6745C>A (p.Leu2249Ile)
7g.21710593C=CA1693636410DNAH11c.6724C= (p.Leu2242=)
c.6745C= (p.Leu2249=)
7g.21710593C>GCA4180965DNAH11c.6724C>G (p.Leu2242Val)
c.6745C>G (p.Leu2249Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.21710593C>TCA4180966DNAH11c.6724C>T (p.Leu2242=)
c.6745C>T (p.Leu2249=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.21710594T>ACA366940131DNAH11c.6725T>A (p.Leu2242Gln)
c.6746T>A (p.Leu2249Gln)
7g.21710594T>CCA366940134DNAH11c.6725T>C (p.Leu2242Pro)
c.6746T>C (p.Leu2249Pro)
dbSNP
7g.21710594T>GCA366940137DNAH11c.6725T>G (p.Leu2242Arg)
c.6746T>G (p.Leu2249Arg)
7g.21710595A=CA1693636423DNAH11c.6726A= (p.Leu2242=)
c.6747A= (p.Leu2249=)
7g.21710595A>CCA4180968DNAH11c.6726A>C (p.Leu2242=)
c.6747A>C (p.Leu2249=)
dbSNP ExAC gnomAD v4
7g.21710595A>GCA4180967DNAH11c.6726A>G (p.Leu2242=)
c.6747A>G (p.Leu2249=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.21710595A>TCA453965457DNAH11c.6726A>T (p.Leu2242=)
c.6747A>T (p.Leu2249=)
gnomAD v4
7g.21710596C>ACA453965458DNAH11c.6727C>A (p.Arg2243=)
c.6748C>A (p.Arg2250=)
dbSNP
7g.21710596C=CA1693636438DNAH11c.6727C= (p.Arg2243=)
c.6748C= (p.Arg2250=)
7g.21710596C>GCA366940148DNAH11c.6727C>G (p.Arg2243Gly)
c.6748C>G (p.Arg2250Gly)
gnomAD v4
7g.21710596C>TCA4180969DNAH11c.6727C>T (p.Arg2243Ter)
c.6748C>T (p.Arg2250Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.21710597G>ACA4180970DNAH11c.6728G>A (p.Arg2243Gln)
c.6749G>A (p.Arg2250Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.21710597G>CCA366940160DNAH11c.6728G>C (p.Arg2243Pro)
c.6749G>C (p.Arg2250Pro)
dbSNP gnomAD v4
7g.21710597G=CA1693636449DNAH11c.6728G= (p.Arg2243=)
c.6749G= (p.Arg2250=)
7g.21710597G>TCA366940163DNAH11c.6728G>T (p.Arg2243Leu)
c.6749G>T (p.Arg2250Leu)
gnomAD v4
7g.21710598A>CCA453965459DNAH11c.6729A>C (p.Arg2243=)
c.6750A>C (p.Arg2250=)
7g.21710598A>GCA453965460DNAH11c.6729A>G (p.Arg2243=)
c.6750A>G (p.Arg2250=)
7g.21710598A>TCA453965461DNAH11c.6729A>T (p.Arg2243=)
c.6750A>T (p.Arg2250=)
7g.21710599G>ACA366940169DNAH11c.6730G>A (p.Glu2244Lys)
c.6751G>A (p.Glu2251Lys)
7g.21710599G>CCA366940168DNAH11c.6730G>C (p.Glu2244Gln)
c.6751G>C (p.Glu2251Gln)
7g.21710599G>TCA366940167DNAH11c.6730G>T (p.Glu2244Ter)
c.6751G>T (p.Glu2251Ter)
7g.21710600A>CCA366940170DNAH11c.6731A>C (p.Glu2244Ala)
c.6752A>C (p.Glu2251Ala)
7g.21710600A>GCA366940174DNAH11c.6731A>G (p.Glu2244Gly)
c.6752A>G (p.Glu2251Gly)
7g.21710600A>TCA366940171DNAH11c.6731A>T (p.Glu2244Val)
c.6752A>T (p.Glu2251Val)
7g.21710601A>CCA366940177DNAH11c.6732A>C (p.Glu2244Asp)
c.6753A>C (p.Glu2251Asp)
7g.21710601A>GCA453965462DNAH11c.6732A>G (p.Glu2244=)
c.6753A>G (p.Glu2251=)
7g.21710601A>TCA366940180DNAH11c.6732A>T (p.Glu2244Asp)
c.6753A>T (p.Glu2251Asp)
gnomAD v4
7g.21710602C>ACA366940184DNAH11c.6733C>A (p.Gln2245Lys)
c.6754C>A (p.Gln2252Lys)
7g.21710602C=CA1693636452DNAH11c.6733C= (p.Gln2245=)
c.6754C= (p.Gln2252=)
7g.21710602C>GCA366940187DNAH11c.6733C>G (p.Gln2245Glu)
c.6754C>G (p.Gln2252Glu)
gnomAD v4
7g.21710602C>TCA4180971DNAH11c.6733C>T (p.Gln2245Ter)
c.6754C>T (p.Gln2252Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched