Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.77208377C>ACA2615254901MYO7Ac.5857-53C>A (n.5857-53C>A)
c.3684-53C>A
c.5710-53C>A (n.5710-53C>A)
c.3283-53C>A (n.3283-53C>A)
c.5743-53C>A (n.5743-53C>A)
n.3393-53C>A
n.771-53C>A
c.5740-53C>A (n.5740-53C>A)
c.5848-53C>A (n.5848-53C>A)
c.5851-53C>A (n.5851-53C>A)
c.5824-53C>A (n.5824-53C>A)
c.5761-53C>A (n.5761-53C>A)
c.5632-53C>A (n.5632-53C>A)
c.5620-53C>A (n.5620-53C>A)
c.5593-53C>A (n.5593-53C>A)
n.6177-53C>A
c.5947-53C>A (n.5947-53C>A)
c.5941-53C>A (n.5941-53C>A)
c.5938-53C>A (n.5938-53C>A)
c.5833-53C>A (n.5833-53C>A)
c.5830-53C>A (n.5830-53C>A)
n.5962-53C>A
n.5877-53C>A
n.5948-53C>A
gnomAD v4
11g.77208378A>CCA2615254903MYO7Ac.5857-52A>C (n.5857-52A>C)
c.3684-52A>C
c.5710-52A>C (n.5710-52A>C)
c.3283-52A>C (n.3283-52A>C)
c.5743-52A>C (n.5743-52A>C)
n.3393-52A>C
n.771-52A>C
c.5740-52A>C (n.5740-52A>C)
c.5848-52A>C (n.5848-52A>C)
c.5851-52A>C (n.5851-52A>C)
c.5824-52A>C (n.5824-52A>C)
c.5761-52A>C (n.5761-52A>C)
c.5632-52A>C (n.5632-52A>C)
c.5620-52A>C (n.5620-52A>C)
c.5593-52A>C (n.5593-52A>C)
n.6177-52A>C
c.5947-52A>C (n.5947-52A>C)
c.5941-52A>C (n.5941-52A>C)
c.5938-52A>C (n.5938-52A>C)
c.5833-52A>C (n.5833-52A>C)
c.5830-52A>C (n.5830-52A>C)
n.5962-52A>C
n.5877-52A>C
n.5948-52A>C
gnomAD v4
11g.77208384T>CCA600710866MYO7Ac.5857-46T>C (n.5857-46T>C)
c.3684-46T>C
c.5710-46T>C (n.5710-46T>C)
c.3283-46T>C (n.3283-46T>C)
c.5743-46T>C (n.5743-46T>C)
n.3393-46T>C
n.771-46T>C
c.5740-46T>C (n.5740-46T>C)
c.5848-46T>C (n.5848-46T>C)
c.5851-46T>C (n.5851-46T>C)
c.5824-46T>C (n.5824-46T>C)
c.5761-46T>C (n.5761-46T>C)
c.5632-46T>C (n.5632-46T>C)
c.5620-46T>C (n.5620-46T>C)
c.5593-46T>C (n.5593-46T>C)
n.6177-46T>C
c.5947-46T>C (n.5947-46T>C)
c.5941-46T>C (n.5941-46T>C)
c.5938-46T>C (n.5938-46T>C)
c.5833-46T>C (n.5833-46T>C)
c.5830-46T>C (n.5830-46T>C)
n.5962-46T>C
n.5877-46T>C
n.5948-46T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77208384T=CA1984128390MYO7Ac.5857-46T= (n.5857-46T=)
c.3684-46T=
c.5710-46T= (n.5710-46T=)
c.3283-46T= (n.3283-46T=)
c.5743-46T= (n.5743-46T=)
n.3393-46T=
n.771-46T=
c.5740-46T= (n.5740-46T=)
c.5848-46T= (n.5848-46T=)
c.5851-46T= (n.5851-46T=)
c.5824-46T= (n.5824-46T=)
c.5761-46T= (n.5761-46T=)
c.5632-46T= (n.5632-46T=)
c.5620-46T= (n.5620-46T=)
c.5593-46T= (n.5593-46T=)
n.6177-46T=
c.5947-46T= (n.5947-46T=)
c.5941-46T= (n.5941-46T=)
c.5938-46T= (n.5938-46T=)
c.5833-46T= (n.5833-46T=)
c.5830-46T= (n.5830-46T=)
n.5962-46T=
n.5877-46T=
n.5948-46T=
11g.77208385G>ACA600710867MYO7Ac.5857-45G>A (n.5857-45G>A)
c.3684-45G>A
c.5710-45G>A (n.5710-45G>A)
c.3283-45G>A (n.3283-45G>A)
c.5743-45G>A (n.5743-45G>A)
n.3393-45G>A
n.771-45G>A
c.5740-45G>A (n.5740-45G>A)
c.5848-45G>A (n.5848-45G>A)
c.5851-45G>A (n.5851-45G>A)
c.5824-45G>A (n.5824-45G>A)
c.5761-45G>A (n.5761-45G>A)
c.5632-45G>A (n.5632-45G>A)
c.5620-45G>A (n.5620-45G>A)
c.5593-45G>A (n.5593-45G>A)
n.6177-45G>A
c.5947-45G>A (n.5947-45G>A)
c.5941-45G>A (n.5941-45G>A)
c.5938-45G>A (n.5938-45G>A)
c.5833-45G>A (n.5833-45G>A)
c.5830-45G>A (n.5830-45G>A)
n.5962-45G>A
n.5877-45G>A
n.5948-45G>A
dbSNP gnomAD v2 gnomAD v4
11g.77208385G=CA1984128391MYO7Ac.5857-45G= (n.5857-45G=)
c.3684-45G=
c.5710-45G= (n.5710-45G=)
c.3283-45G= (n.3283-45G=)
c.5743-45G= (n.5743-45G=)
n.3393-45G=
n.771-45G=
c.5740-45G= (n.5740-45G=)
c.5848-45G= (n.5848-45G=)
c.5851-45G= (n.5851-45G=)
c.5824-45G= (n.5824-45G=)
c.5761-45G= (n.5761-45G=)
c.5632-45G= (n.5632-45G=)
c.5620-45G= (n.5620-45G=)
c.5593-45G= (n.5593-45G=)
n.6177-45G=
c.5947-45G= (n.5947-45G=)
c.5941-45G= (n.5941-45G=)
c.5938-45G= (n.5938-45G=)
c.5833-45G= (n.5833-45G=)
c.5830-45G= (n.5830-45G=)
n.5962-45G=
n.5877-45G=
n.5948-45G=
11g.77208385G>TCA2615254906MYO7Ac.5857-45G>T (n.5857-45G>T)
c.3684-45G>T
c.5710-45G>T (n.5710-45G>T)
c.3283-45G>T (n.3283-45G>T)
c.5743-45G>T (n.5743-45G>T)
n.3393-45G>T
n.771-45G>T
c.5740-45G>T (n.5740-45G>T)
c.5848-45G>T (n.5848-45G>T)
c.5851-45G>T (n.5851-45G>T)
c.5824-45G>T (n.5824-45G>T)
c.5761-45G>T (n.5761-45G>T)
c.5632-45G>T (n.5632-45G>T)
c.5620-45G>T (n.5620-45G>T)
c.5593-45G>T (n.5593-45G>T)
n.6177-45G>T
c.5947-45G>T (n.5947-45G>T)
c.5941-45G>T (n.5941-45G>T)
c.5938-45G>T (n.5938-45G>T)
c.5833-45G>T (n.5833-45G>T)
c.5830-45G>T (n.5830-45G>T)
n.5962-45G>T
n.5877-45G>T
n.5948-45G>T
gnomAD v4
11g.77208386C>ACA2615254912MYO7Ac.5857-44C>A (n.5857-44C>A)
c.3684-44C>A
c.5710-44C>A (n.5710-44C>A)
c.3283-44C>A (n.3283-44C>A)
c.5743-44C>A (n.5743-44C>A)
n.3393-44C>A
n.771-44C>A
c.5740-44C>A (n.5740-44C>A)
c.5848-44C>A (n.5848-44C>A)
c.5851-44C>A (n.5851-44C>A)
c.5824-44C>A (n.5824-44C>A)
c.5761-44C>A (n.5761-44C>A)
c.5632-44C>A (n.5632-44C>A)
c.5620-44C>A (n.5620-44C>A)
c.5593-44C>A (n.5593-44C>A)
n.6177-44C>A
c.5947-44C>A (n.5947-44C>A)
c.5941-44C>A (n.5941-44C>A)
c.5938-44C>A (n.5938-44C>A)
c.5833-44C>A (n.5833-44C>A)
c.5830-44C>A (n.5830-44C>A)
n.5962-44C>A
n.5877-44C>A
n.5948-44C>A
gnomAD v4
11g.77208386C=CA1984128392MYO7Ac.5857-44C= (n.5857-44C=)
c.3684-44C=
c.5710-44C= (n.5710-44C=)
c.3283-44C= (n.3283-44C=)
c.5743-44C= (n.5743-44C=)
n.3393-44C=
n.771-44C=
c.5740-44C= (n.5740-44C=)
c.5848-44C= (n.5848-44C=)
c.5851-44C= (n.5851-44C=)
c.5824-44C= (n.5824-44C=)
c.5761-44C= (n.5761-44C=)
c.5632-44C= (n.5632-44C=)
c.5620-44C= (n.5620-44C=)
c.5593-44C= (n.5593-44C=)
n.6177-44C=
c.5947-44C= (n.5947-44C=)
c.5941-44C= (n.5941-44C=)
c.5938-44C= (n.5938-44C=)
c.5833-44C= (n.5833-44C=)
c.5830-44C= (n.5830-44C=)
n.5962-44C=
n.5877-44C=
n.5948-44C=
11g.77208386C>GCA600710868MYO7Ac.5857-44C>G (n.5857-44C>G)
c.3684-44C>G
c.5710-44C>G (n.5710-44C>G)
c.3283-44C>G (n.3283-44C>G)
c.5743-44C>G (n.5743-44C>G)
n.3393-44C>G
n.771-44C>G
c.5740-44C>G (n.5740-44C>G)
c.5848-44C>G (n.5848-44C>G)
c.5851-44C>G (n.5851-44C>G)
c.5824-44C>G (n.5824-44C>G)
c.5761-44C>G (n.5761-44C>G)
c.5632-44C>G (n.5632-44C>G)
c.5620-44C>G (n.5620-44C>G)
c.5593-44C>G (n.5593-44C>G)
n.6177-44C>G
c.5947-44C>G (n.5947-44C>G)
c.5941-44C>G (n.5941-44C>G)
c.5938-44C>G (n.5938-44C>G)
c.5833-44C>G (n.5833-44C>G)
c.5830-44C>G (n.5830-44C>G)
n.5962-44C>G
n.5877-44C>G
n.5948-44C>G
dbSNP gnomAD v2 gnomAD v4
11g.77208386C>TCA6198850MYO7Ac.5857-44C>T (n.5857-44C>T)
c.3684-44C>T
c.5710-44C>T (n.5710-44C>T)
c.3283-44C>T (n.3283-44C>T)
c.5743-44C>T (n.5743-44C>T)
n.3393-44C>T
n.771-44C>T
c.5740-44C>T (n.5740-44C>T)
c.5848-44C>T (n.5848-44C>T)
c.5851-44C>T (n.5851-44C>T)
c.5824-44C>T (n.5824-44C>T)
c.5761-44C>T (n.5761-44C>T)
c.5632-44C>T (n.5632-44C>T)
c.5620-44C>T (n.5620-44C>T)
c.5593-44C>T (n.5593-44C>T)
n.6177-44C>T
c.5947-44C>T (n.5947-44C>T)
c.5941-44C>T (n.5941-44C>T)
c.5938-44C>T (n.5938-44C>T)
c.5833-44C>T (n.5833-44C>T)
c.5830-44C>T (n.5830-44C>T)
n.5962-44C>T
n.5877-44C>T
n.5948-44C>T
dbSNP ExAC gnomAD v2 gnomAD v4
11g.77208387A=CA1984128393MYO7Ac.5857-43A= (n.5857-43A=)
c.3684-43A=
c.5710-43A= (n.5710-43A=)
c.3283-43A= (n.3283-43A=)
c.5743-43A= (n.5743-43A=)
n.3393-43A=
n.771-43A=
c.5740-43A= (n.5740-43A=)
c.5848-43A= (n.5848-43A=)
c.5851-43A= (n.5851-43A=)
c.5824-43A= (n.5824-43A=)
c.5761-43A= (n.5761-43A=)
c.5632-43A= (n.5632-43A=)
c.5620-43A= (n.5620-43A=)
c.5593-43A= (n.5593-43A=)
n.6177-43A=
c.5947-43A= (n.5947-43A=)
c.5941-43A= (n.5941-43A=)
c.5938-43A= (n.5938-43A=)
c.5833-43A= (n.5833-43A=)
c.5830-43A= (n.5830-43A=)
n.5962-43A=
n.5877-43A=
n.5948-43A=
11g.77208387A>CCA600710869MYO7Ac.5857-43A>C (n.5857-43A>C)
c.3684-43A>C
c.5710-43A>C (n.5710-43A>C)
c.3283-43A>C (n.3283-43A>C)
c.5743-43A>C (n.5743-43A>C)
n.3393-43A>C
n.771-43A>C
c.5740-43A>C (n.5740-43A>C)
c.5848-43A>C (n.5848-43A>C)
c.5851-43A>C (n.5851-43A>C)
c.5824-43A>C (n.5824-43A>C)
c.5761-43A>C (n.5761-43A>C)
c.5632-43A>C (n.5632-43A>C)
c.5620-43A>C (n.5620-43A>C)
c.5593-43A>C (n.5593-43A>C)
n.6177-43A>C
c.5947-43A>C (n.5947-43A>C)
c.5941-43A>C (n.5941-43A>C)
c.5938-43A>C (n.5938-43A>C)
c.5833-43A>C (n.5833-43A>C)
c.5830-43A>C (n.5830-43A>C)
n.5962-43A>C
n.5877-43A>C
n.5948-43A>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77208388G>ACA2615254918MYO7Ac.5857-42G>A (n.5857-42G>A)
c.3684-42G>A
c.5710-42G>A (n.5710-42G>A)
c.3283-42G>A (n.3283-42G>A)
c.5743-42G>A (n.5743-42G>A)
n.3393-42G>A
n.771-42G>A
c.5740-42G>A (n.5740-42G>A)
c.5848-42G>A (n.5848-42G>A)
c.5851-42G>A (n.5851-42G>A)
c.5824-42G>A (n.5824-42G>A)
c.5761-42G>A (n.5761-42G>A)
c.5632-42G>A (n.5632-42G>A)
c.5620-42G>A (n.5620-42G>A)
c.5593-42G>A (n.5593-42G>A)
n.6177-42G>A
c.5947-42G>A (n.5947-42G>A)
c.5941-42G>A (n.5941-42G>A)
c.5938-42G>A (n.5938-42G>A)
c.5833-42G>A (n.5833-42G>A)
c.5830-42G>A (n.5830-42G>A)
n.5962-42G>A
n.5877-42G>A
n.5948-42G>A
gnomAD v4
11g.77208388G>TCA2615254919MYO7Ac.5857-42G>T (n.5857-42G>T)
c.3684-42G>T
c.5710-42G>T (n.5710-42G>T)
c.3283-42G>T (n.3283-42G>T)
c.5743-42G>T (n.5743-42G>T)
n.3393-42G>T
n.771-42G>T
c.5740-42G>T (n.5740-42G>T)
c.5848-42G>T (n.5848-42G>T)
c.5851-42G>T (n.5851-42G>T)
c.5824-42G>T (n.5824-42G>T)
c.5761-42G>T (n.5761-42G>T)
c.5632-42G>T (n.5632-42G>T)
c.5620-42G>T (n.5620-42G>T)
c.5593-42G>T (n.5593-42G>T)
n.6177-42G>T
c.5947-42G>T (n.5947-42G>T)
c.5941-42G>T (n.5941-42G>T)
c.5938-42G>T (n.5938-42G>T)
c.5833-42G>T (n.5833-42G>T)
c.5830-42G>T (n.5830-42G>T)
n.5962-42G>T
n.5877-42G>T
n.5948-42G>T
gnomAD v4
11g.77208389T>ACA2615254920MYO7Ac.5857-41T>A (n.5857-41T>A)
c.3684-41T>A
c.5710-41T>A (n.5710-41T>A)
c.3283-41T>A (n.3283-41T>A)
c.5743-41T>A (n.5743-41T>A)
n.3393-41T>A
n.771-41T>A
c.5740-41T>A (n.5740-41T>A)
c.5848-41T>A (n.5848-41T>A)
c.5851-41T>A (n.5851-41T>A)
c.5824-41T>A (n.5824-41T>A)
c.5761-41T>A (n.5761-41T>A)
c.5632-41T>A (n.5632-41T>A)
c.5620-41T>A (n.5620-41T>A)
c.5593-41T>A (n.5593-41T>A)
n.6177-41T>A
c.5947-41T>A (n.5947-41T>A)
c.5941-41T>A (n.5941-41T>A)
c.5938-41T>A (n.5938-41T>A)
c.5833-41T>A (n.5833-41T>A)
c.5830-41T>A (n.5830-41T>A)
n.5962-41T>A
n.5877-41T>A
n.5948-41T>A
gnomAD v4
11g.77208389T=CA1984128394MYO7Ac.5857-41T= (n.5857-41T=)
c.3684-41T=
c.5710-41T= (n.5710-41T=)
c.3283-41T= (n.3283-41T=)
c.5743-41T= (n.5743-41T=)
n.3393-41T=
n.771-41T=
c.5740-41T= (n.5740-41T=)
c.5848-41T= (n.5848-41T=)
c.5851-41T= (n.5851-41T=)
c.5824-41T= (n.5824-41T=)
c.5761-41T= (n.5761-41T=)
c.5632-41T= (n.5632-41T=)
c.5620-41T= (n.5620-41T=)
c.5593-41T= (n.5593-41T=)
n.6177-41T=
c.5947-41T= (n.5947-41T=)
c.5941-41T= (n.5941-41T=)
c.5938-41T= (n.5938-41T=)
c.5833-41T= (n.5833-41T=)
c.5830-41T= (n.5830-41T=)
n.5962-41T=
n.5877-41T=
n.5948-41T=
11g.77208389_77208390insCCA600710870MYO7Ac.5857-41_5857-40insC (n.5857-41_5857-40insC)
c.3684-41_3684-40insC
c.5710-41_5710-40insC (n.5710-41_5710-40insC)
c.3283-41_3283-40insC (n.3283-41_3283-40insC)
c.5743-41_5743-40insC (n.5743-41_5743-40insC)
n.3393-41_3393-40insC
n.771-41_771-40insC
c.5740-41_5740-40insC (n.5740-41_5740-40insC)
c.5848-41_5848-40insC (n.5848-41_5848-40insC)
c.5851-41_5851-40insC (n.5851-41_5851-40insC)
c.5824-41_5824-40insC (n.5824-41_5824-40insC)
c.5761-41_5761-40insC (n.5761-41_5761-40insC)
c.5632-41_5632-40insC (n.5632-41_5632-40insC)
c.5620-41_5620-40insC (n.5620-41_5620-40insC)
c.5593-41_5593-40insC (n.5593-41_5593-40insC)
n.6177-41_6177-40insC
c.5947-41_5947-40insC (n.5947-41_5947-40insC)
c.5941-41_5941-40insC (n.5941-41_5941-40insC)
c.5938-41_5938-40insC (n.5938-41_5938-40insC)
c.5833-41_5833-40insC (n.5833-41_5833-40insC)
c.5830-41_5830-40insC (n.5830-41_5830-40insC)
n.5962-41_5962-40insC
n.5877-41_5877-40insC
n.5948-41_5948-40insC
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77208390G>ACA2615254978MYO7Ac.5857-40G>A (n.5857-40G>A)
c.3684-40G>A
c.5710-40G>A (n.5710-40G>A)
c.3283-40G>A (n.3283-40G>A)
c.5743-40G>A (n.5743-40G>A)
n.3393-40G>A
n.771-40G>A
c.5740-40G>A (n.5740-40G>A)
c.5848-40G>A (n.5848-40G>A)
c.5851-40G>A (n.5851-40G>A)
c.5824-40G>A (n.5824-40G>A)
c.5761-40G>A (n.5761-40G>A)
c.5632-40G>A (n.5632-40G>A)
c.5620-40G>A (n.5620-40G>A)
c.5593-40G>A (n.5593-40G>A)
n.6177-40G>A
c.5947-40G>A (n.5947-40G>A)
c.5941-40G>A (n.5941-40G>A)
c.5938-40G>A (n.5938-40G>A)
c.5833-40G>A (n.5833-40G>A)
c.5830-40G>A (n.5830-40G>A)
n.5962-40G>A
n.5877-40G>A
n.5948-40G>A
gnomAD v4
11g.77208393G>ACA2615254980MYO7Ac.5857-37G>A (n.5857-37G>A)
c.3684-37G>A
c.5710-37G>A (n.5710-37G>A)
c.3283-37G>A (n.3283-37G>A)
c.5743-37G>A (n.5743-37G>A)
n.3393-37G>A
n.771-37G>A
c.5740-37G>A (n.5740-37G>A)
c.5848-37G>A (n.5848-37G>A)
c.5851-37G>A (n.5851-37G>A)
c.5824-37G>A (n.5824-37G>A)
c.5761-37G>A (n.5761-37G>A)
c.5632-37G>A (n.5632-37G>A)
c.5620-37G>A (n.5620-37G>A)
c.5593-37G>A (n.5593-37G>A)
n.6177-37G>A
c.5947-37G>A (n.5947-37G>A)
c.5941-37G>A (n.5941-37G>A)
c.5938-37G>A (n.5938-37G>A)
c.5833-37G>A (n.5833-37G>A)
c.5830-37G>A (n.5830-37G>A)
n.5962-37G>A
n.5877-37G>A
n.5948-37G>A
gnomAD v4
11g.77208393G>TCA2615254984MYO7Ac.5857-37G>T (n.5857-37G>T)
c.3684-37G>T
c.5710-37G>T (n.5710-37G>T)
c.3283-37G>T (n.3283-37G>T)
c.5743-37G>T (n.5743-37G>T)
n.3393-37G>T
n.771-37G>T
c.5740-37G>T (n.5740-37G>T)
c.5848-37G>T (n.5848-37G>T)
c.5851-37G>T (n.5851-37G>T)
c.5824-37G>T (n.5824-37G>T)
c.5761-37G>T (n.5761-37G>T)
c.5632-37G>T (n.5632-37G>T)
c.5620-37G>T (n.5620-37G>T)
c.5593-37G>T (n.5593-37G>T)
n.6177-37G>T
c.5947-37G>T (n.5947-37G>T)
c.5941-37G>T (n.5941-37G>T)
c.5938-37G>T (n.5938-37G>T)
c.5833-37G>T (n.5833-37G>T)
c.5830-37G>T (n.5830-37G>T)
n.5962-37G>T
n.5877-37G>T
n.5948-37G>T
gnomAD v4
11g.77208394C>ACA2615254986MYO7Ac.5857-36C>A (n.5857-36C>A)
c.3684-36C>A
c.5710-36C>A (n.5710-36C>A)
c.3283-36C>A (n.3283-36C>A)
c.5743-36C>A (n.5743-36C>A)
n.3393-36C>A
n.771-36C>A
c.5740-36C>A (n.5740-36C>A)
c.5848-36C>A (n.5848-36C>A)
c.5851-36C>A (n.5851-36C>A)
c.5824-36C>A (n.5824-36C>A)
c.5761-36C>A (n.5761-36C>A)
c.5632-36C>A (n.5632-36C>A)
c.5620-36C>A (n.5620-36C>A)
c.5593-36C>A (n.5593-36C>A)
n.6177-36C>A
c.5947-36C>A (n.5947-36C>A)
c.5941-36C>A (n.5941-36C>A)
c.5938-36C>A (n.5938-36C>A)
c.5833-36C>A (n.5833-36C>A)
c.5830-36C>A (n.5830-36C>A)
n.5962-36C>A
n.5877-36C>A
n.5948-36C>A
gnomAD v4
11g.77208394C=CA1984128395MYO7Ac.5857-36C= (n.5857-36C=)
c.3684-36C=
c.5710-36C= (n.5710-36C=)
c.3283-36C= (n.3283-36C=)
c.5743-36C= (n.5743-36C=)
n.3393-36C=
n.771-36C=
c.5740-36C= (n.5740-36C=)
c.5848-36C= (n.5848-36C=)
c.5851-36C= (n.5851-36C=)
c.5824-36C= (n.5824-36C=)
c.5761-36C= (n.5761-36C=)
c.5632-36C= (n.5632-36C=)
c.5620-36C= (n.5620-36C=)
c.5593-36C= (n.5593-36C=)
n.6177-36C=
c.5947-36C= (n.5947-36C=)
c.5941-36C= (n.5941-36C=)
c.5938-36C= (n.5938-36C=)
c.5833-36C= (n.5833-36C=)
c.5830-36C= (n.5830-36C=)
n.5962-36C=
n.5877-36C=
n.5948-36C=
11g.77208394C>TCA600710871MYO7Ac.5857-36C>T (n.5857-36C>T)
c.3684-36C>T
c.5710-36C>T (n.5710-36C>T)
c.3283-36C>T (n.3283-36C>T)
c.5743-36C>T (n.5743-36C>T)
n.3393-36C>T
n.771-36C>T
c.5740-36C>T (n.5740-36C>T)
c.5848-36C>T (n.5848-36C>T)
c.5851-36C>T (n.5851-36C>T)
c.5824-36C>T (n.5824-36C>T)
c.5761-36C>T (n.5761-36C>T)
c.5632-36C>T (n.5632-36C>T)
c.5620-36C>T (n.5620-36C>T)
c.5593-36C>T (n.5593-36C>T)
n.6177-36C>T
c.5947-36C>T (n.5947-36C>T)
c.5941-36C>T (n.5941-36C>T)
c.5938-36C>T (n.5938-36C>T)
c.5833-36C>T (n.5833-36C>T)
c.5830-36C>T (n.5830-36C>T)
n.5962-36C>T
n.5877-36C>T
n.5948-36C>T
dbSNP gnomAD v2 gnomAD v4
11g.77208397A>TCA2615254989MYO7Ac.5857-33A>T (n.5857-33A>T)
c.3684-33A>T
c.5710-33A>T (n.5710-33A>T)
c.3283-33A>T (n.3283-33A>T)
c.5743-33A>T (n.5743-33A>T)
n.3393-33A>T
n.771-33A>T
c.5740-33A>T (n.5740-33A>T)
c.5848-33A>T (n.5848-33A>T)
c.5851-33A>T (n.5851-33A>T)
c.5824-33A>T (n.5824-33A>T)
c.5761-33A>T (n.5761-33A>T)
c.5632-33A>T (n.5632-33A>T)
c.5620-33A>T (n.5620-33A>T)
c.5593-33A>T (n.5593-33A>T)
n.6177-33A>T
c.5947-33A>T (n.5947-33A>T)
c.5941-33A>T (n.5941-33A>T)
c.5938-33A>T (n.5938-33A>T)
c.5833-33A>T (n.5833-33A>T)
c.5830-33A>T (n.5830-33A>T)
n.5962-33A>T
n.5877-33A>T
n.5948-33A>T
gnomAD v4
11g.77208400C>ACA2615254994MYO7Ac.5857-30C>A (n.5857-30C>A)
c.3684-30C>A
c.5710-30C>A (n.5710-30C>A)
c.3283-30C>A (n.3283-30C>A)
c.5743-30C>A (n.5743-30C>A)
n.3393-30C>A
n.771-30C>A
c.5740-30C>A (n.5740-30C>A)
c.5848-30C>A (n.5848-30C>A)
c.5851-30C>A (n.5851-30C>A)
c.5824-30C>A (n.5824-30C>A)
c.5761-30C>A (n.5761-30C>A)
c.5632-30C>A (n.5632-30C>A)
c.5620-30C>A (n.5620-30C>A)
c.5593-30C>A (n.5593-30C>A)
n.6177-30C>A
c.5947-30C>A (n.5947-30C>A)
c.5941-30C>A (n.5941-30C>A)
c.5938-30C>A (n.5938-30C>A)
c.5833-30C>A (n.5833-30C>A)
c.5830-30C>A (n.5830-30C>A)
n.5962-30C>A
n.5877-30C>A
n.5948-30C>A
gnomAD v4
11g.77208400C=CA1984128396MYO7Ac.5857-30C= (n.5857-30C=)
c.3684-30C=
c.5710-30C= (n.5710-30C=)
c.3283-30C= (n.3283-30C=)
c.5743-30C= (n.5743-30C=)
n.3393-30C=
n.771-30C=
c.5740-30C= (n.5740-30C=)
c.5848-30C= (n.5848-30C=)
c.5851-30C= (n.5851-30C=)
c.5824-30C= (n.5824-30C=)
c.5761-30C= (n.5761-30C=)
c.5632-30C= (n.5632-30C=)
c.5620-30C= (n.5620-30C=)
c.5593-30C= (n.5593-30C=)
n.6177-30C=
c.5947-30C= (n.5947-30C=)
c.5941-30C= (n.5941-30C=)
c.5938-30C= (n.5938-30C=)
c.5833-30C= (n.5833-30C=)
c.5830-30C= (n.5830-30C=)
n.5962-30C=
n.5877-30C=
n.5948-30C=
11g.77208400C>GCA2615254995MYO7Ac.5857-30C>G (n.5857-30C>G)
c.3684-30C>G
c.5710-30C>G (n.5710-30C>G)
c.3283-30C>G (n.3283-30C>G)
c.5743-30C>G (n.5743-30C>G)
n.3393-30C>G
n.771-30C>G
c.5740-30C>G (n.5740-30C>G)
c.5848-30C>G (n.5848-30C>G)
c.5851-30C>G (n.5851-30C>G)
c.5824-30C>G (n.5824-30C>G)
c.5761-30C>G (n.5761-30C>G)
c.5632-30C>G (n.5632-30C>G)
c.5620-30C>G (n.5620-30C>G)
c.5593-30C>G (n.5593-30C>G)
n.6177-30C>G
c.5947-30C>G (n.5947-30C>G)
c.5941-30C>G (n.5941-30C>G)
c.5938-30C>G (n.5938-30C>G)
c.5833-30C>G (n.5833-30C>G)
c.5830-30C>G (n.5830-30C>G)
n.5962-30C>G
n.5877-30C>G
n.5948-30C>G
gnomAD v4
11g.77208400C>TCA600710872MYO7Ac.5857-30C>T (n.5857-30C>T)
c.3684-30C>T
c.5710-30C>T (n.5710-30C>T)
c.3283-30C>T (n.3283-30C>T)
c.5743-30C>T (n.5743-30C>T)
n.3393-30C>T
n.771-30C>T
c.5740-30C>T (n.5740-30C>T)
c.5848-30C>T (n.5848-30C>T)
c.5851-30C>T (n.5851-30C>T)
c.5824-30C>T (n.5824-30C>T)
c.5761-30C>T (n.5761-30C>T)
c.5632-30C>T (n.5632-30C>T)
c.5620-30C>T (n.5620-30C>T)
c.5593-30C>T (n.5593-30C>T)
n.6177-30C>T
c.5947-30C>T (n.5947-30C>T)
c.5941-30C>T (n.5941-30C>T)
c.5938-30C>T (n.5938-30C>T)
c.5833-30C>T (n.5833-30C>T)
c.5830-30C>T (n.5830-30C>T)
n.5962-30C>T
n.5877-30C>T
n.5948-30C>T
dbSNP gnomAD v2 gnomAD v4
11g.77208401T>CCA6198852MYO7Ac.5857-29T>C (n.5857-29T>C)
c.3684-29T>C
c.5710-29T>C (n.5710-29T>C)
c.3283-29T>C (n.3283-29T>C)
c.5743-29T>C (n.5743-29T>C)
n.3393-29T>C
n.771-29T>C
c.5740-29T>C (n.5740-29T>C)
c.5848-29T>C (n.5848-29T>C)
c.5851-29T>C (n.5851-29T>C)
c.5824-29T>C (n.5824-29T>C)
c.5761-29T>C (n.5761-29T>C)
c.5632-29T>C (n.5632-29T>C)
c.5620-29T>C (n.5620-29T>C)
c.5593-29T>C (n.5593-29T>C)
n.6177-29T>C
c.5947-29T>C (n.5947-29T>C)
c.5941-29T>C (n.5941-29T>C)
c.5938-29T>C (n.5938-29T>C)
c.5833-29T>C (n.5833-29T>C)
c.5830-29T>C (n.5830-29T>C)
n.5962-29T>C
n.5877-29T>C
n.5948-29T>C
dbSNP ExAC gnomAD v2 gnomAD v4
11g.77208401T=CA1984128397MYO7Ac.5857-29T= (n.5857-29T=)
c.3684-29T=
c.5710-29T= (n.5710-29T=)
c.3283-29T= (n.3283-29T=)
c.5743-29T= (n.5743-29T=)
n.3393-29T=
n.771-29T=
c.5740-29T= (n.5740-29T=)
c.5848-29T= (n.5848-29T=)
c.5851-29T= (n.5851-29T=)
c.5824-29T= (n.5824-29T=)
c.5761-29T= (n.5761-29T=)
c.5632-29T= (n.5632-29T=)
c.5620-29T= (n.5620-29T=)
c.5593-29T= (n.5593-29T=)
n.6177-29T=
c.5947-29T= (n.5947-29T=)
c.5941-29T= (n.5941-29T=)
c.5938-29T= (n.5938-29T=)
c.5833-29T= (n.5833-29T=)
c.5830-29T= (n.5830-29T=)
n.5962-29T=
n.5877-29T=
n.5948-29T=
11g.77208401_77208405dupCA6198851MYO7Ac.5857-29_5857-25dup (n.5857-29_5857-25dup)
c.3684-29_3684-25dup
c.5710-29_5710-25dup (n.5710-29_5710-25dup)
c.3283-29_3283-25dup (n.3283-29_3283-25dup)
c.5743-29_5743-25dup (n.5743-29_5743-25dup)
n.3393-29_3393-25dup
n.771-29_771-25dup
c.5740-29_5740-25dup (n.5740-29_5740-25dup)
c.5848-29_5848-25dup (n.5848-29_5848-25dup)
c.5851-29_5851-25dup (n.5851-29_5851-25dup)
c.5824-29_5824-25dup (n.5824-29_5824-25dup)
c.5761-29_5761-25dup (n.5761-29_5761-25dup)
c.5632-29_5632-25dup (n.5632-29_5632-25dup)
c.5620-29_5620-25dup (n.5620-29_5620-25dup)
c.5593-29_5593-25dup (n.5593-29_5593-25dup)
n.6177-29_6177-25dup
c.5947-29_5947-25dup (n.5947-29_5947-25dup)
c.5941-29_5941-25dup (n.5941-29_5941-25dup)
c.5938-29_5938-25dup (n.5938-29_5938-25dup)
c.5833-29_5833-25dup (n.5833-29_5833-25dup)
c.5830-29_5830-25dup (n.5830-29_5830-25dup)
n.5962-29_5962-25dup
n.5877-29_5877-25dup
n.5948-29_5948-25dup
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77208402G>CCA2792791002MYO7Ac.5857-28G>C (n.5857-28G>C)
c.3684-28G>C
c.5710-28G>C (n.5710-28G>C)
c.3283-28G>C (n.3283-28G>C)
c.5743-28G>C (n.5743-28G>C)
n.3393-28G>C
n.771-28G>C
c.5740-28G>C (n.5740-28G>C)
c.5848-28G>C (n.5848-28G>C)
c.5851-28G>C (n.5851-28G>C)
c.5824-28G>C (n.5824-28G>C)
c.5761-28G>C (n.5761-28G>C)
c.5632-28G>C (n.5632-28G>C)
c.5620-28G>C (n.5620-28G>C)
c.5593-28G>C (n.5593-28G>C)
n.6177-28G>C
c.5947-28G>C (n.5947-28G>C)
c.5941-28G>C (n.5941-28G>C)
c.5938-28G>C (n.5938-28G>C)
c.5833-28G>C (n.5833-28G>C)
c.5830-28G>C (n.5830-28G>C)
n.5962-28G>C
n.5877-28G>C
n.5948-28G>C
11g.77208402G>TCA2615255012MYO7Ac.5857-28G>T (n.5857-28G>T)
c.3684-28G>T
c.5710-28G>T (n.5710-28G>T)
c.3283-28G>T (n.3283-28G>T)
c.5743-28G>T (n.5743-28G>T)
n.3393-28G>T
n.771-28G>T
c.5740-28G>T (n.5740-28G>T)
c.5848-28G>T (n.5848-28G>T)
c.5851-28G>T (n.5851-28G>T)
c.5824-28G>T (n.5824-28G>T)
c.5761-28G>T (n.5761-28G>T)
c.5632-28G>T (n.5632-28G>T)
c.5620-28G>T (n.5620-28G>T)
c.5593-28G>T (n.5593-28G>T)
n.6177-28G>T
c.5947-28G>T (n.5947-28G>T)
c.5941-28G>T (n.5941-28G>T)
c.5938-28G>T (n.5938-28G>T)
c.5833-28G>T (n.5833-28G>T)
c.5830-28G>T (n.5830-28G>T)
n.5962-28G>T
n.5877-28G>T
n.5948-28G>T
gnomAD v4
11g.77208404_77208414delCA2740093141MYO7Ac.5857-26_5857-16del (n.5857-26_5857-16del)
c.3684-26_3684-16del
c.5710-26_5710-16del (n.5710-26_5710-16del)
c.3283-26_3283-16del (n.3283-26_3283-16del)
c.5743-26_5743-16del (n.5743-26_5743-16del)
n.3393-26_3393-16del
n.771-26_771-16del
c.5740-26_5740-16del (n.5740-26_5740-16del)
c.5848-26_5848-16del (n.5848-26_5848-16del)
c.5851-26_5851-16del (n.5851-26_5851-16del)
c.5824-26_5824-16del (n.5824-26_5824-16del)
c.5761-26_5761-16del (n.5761-26_5761-16del)
c.5632-26_5632-16del (n.5632-26_5632-16del)
c.5620-26_5620-16del (n.5620-26_5620-16del)
c.5593-26_5593-16del (n.5593-26_5593-16del)
n.6177-26_6177-16del
c.5947-26_5947-16del (n.5947-26_5947-16del)
c.5941-26_5941-16del (n.5941-26_5941-16del)
c.5938-26_5938-16del (n.5938-26_5938-16del)
c.5833-26_5833-16del (n.5833-26_5833-16del)
c.5830-26_5830-16del (n.5830-26_5830-16del)
n.5962-26_5962-16del
n.5877-26_5877-16del
n.5948-26_5948-16del
ClinVar
11g.77208403A>CCA2574931843MYO7Ac.5857-27A>C (n.5857-27A>C)
c.3684-27A>C
c.5710-27A>C (n.5710-27A>C)
c.3283-27A>C (n.3283-27A>C)
c.5743-27A>C (n.5743-27A>C)
n.3393-27A>C
n.771-27A>C
c.5740-27A>C (n.5740-27A>C)
c.5848-27A>C (n.5848-27A>C)
c.5851-27A>C (n.5851-27A>C)
c.5824-27A>C (n.5824-27A>C)
c.5761-27A>C (n.5761-27A>C)
c.5632-27A>C (n.5632-27A>C)
c.5620-27A>C (n.5620-27A>C)
c.5593-27A>C (n.5593-27A>C)
n.6177-27A>C
c.5947-27A>C (n.5947-27A>C)
c.5941-27A>C (n.5941-27A>C)
c.5938-27A>C (n.5938-27A>C)
c.5833-27A>C (n.5833-27A>C)
c.5830-27A>C (n.5830-27A>C)
n.5962-27A>C
n.5877-27A>C
n.5948-27A>C
gnomAD v4
11g.77208403A>GCA2615255017MYO7Ac.5857-27A>G (n.5857-27A>G)
c.3684-27A>G
c.5710-27A>G (n.5710-27A>G)
c.3283-27A>G (n.3283-27A>G)
c.5743-27A>G (n.5743-27A>G)
n.3393-27A>G
n.771-27A>G
c.5740-27A>G (n.5740-27A>G)
c.5848-27A>G (n.5848-27A>G)
c.5851-27A>G (n.5851-27A>G)
c.5824-27A>G (n.5824-27A>G)
c.5761-27A>G (n.5761-27A>G)
c.5632-27A>G (n.5632-27A>G)
c.5620-27A>G (n.5620-27A>G)
c.5593-27A>G (n.5593-27A>G)
n.6177-27A>G
c.5947-27A>G (n.5947-27A>G)
c.5941-27A>G (n.5941-27A>G)
c.5938-27A>G (n.5938-27A>G)
c.5833-27A>G (n.5833-27A>G)
c.5830-27A>G (n.5830-27A>G)
n.5962-27A>G
n.5877-27A>G
n.5948-27A>G
gnomAD v4
11g.77208403_77208404insTTGAGCA2695215062MYO7Ac.5857-27_5857-26insTTGAG (n.5857-27_5857-26insTTGAG)
c.3684-27_3684-26insTTGAG
c.5710-27_5710-26insTTGAG (n.5710-27_5710-26insTTGAG)
c.3283-27_3283-26insTTGAG (n.3283-27_3283-26insTTGAG)
c.5743-27_5743-26insTTGAG (n.5743-27_5743-26insTTGAG)
n.3393-27_3393-26insTTGAG
n.771-27_771-26insTTGAG
c.5740-27_5740-26insTTGAG (n.5740-27_5740-26insTTGAG)
c.5848-27_5848-26insTTGAG (n.5848-27_5848-26insTTGAG)
c.5851-27_5851-26insTTGAG (n.5851-27_5851-26insTTGAG)
c.5824-27_5824-26insTTGAG (n.5824-27_5824-26insTTGAG)
c.5761-27_5761-26insTTGAG (n.5761-27_5761-26insTTGAG)
c.5632-27_5632-26insTTGAG (n.5632-27_5632-26insTTGAG)
c.5620-27_5620-26insTTGAG (n.5620-27_5620-26insTTGAG)
c.5593-27_5593-26insTTGAG (n.5593-27_5593-26insTTGAG)
n.6177-27_6177-26insTTGAG
c.5947-27_5947-26insTTGAG (n.5947-27_5947-26insTTGAG)
c.5941-27_5941-26insTTGAG (n.5941-27_5941-26insTTGAG)
c.5938-27_5938-26insTTGAG (n.5938-27_5938-26insTTGAG)
c.5833-27_5833-26insTTGAG (n.5833-27_5833-26insTTGAG)
c.5830-27_5830-26insTTGAG (n.5830-27_5830-26insTTGAG)
n.5962-27_5962-26insTTGAG
n.5877-27_5877-26insTTGAG
n.5948-27_5948-26insTTGAG
11g.77208404G>ACA224825141MYO7Ac.5857-26G>A (n.5857-26G>A)
c.3684-26G>A
c.5710-26G>A (n.5710-26G>A)
c.3283-26G>A (n.3283-26G>A)
c.5743-26G>A (n.5743-26G>A)
n.3393-26G>A
n.771-26G>A
c.5740-26G>A (n.5740-26G>A)
c.5848-26G>A (n.5848-26G>A)
c.5851-26G>A (n.5851-26G>A)
c.5824-26G>A (n.5824-26G>A)
c.5761-26G>A (n.5761-26G>A)
c.5632-26G>A (n.5632-26G>A)
c.5620-26G>A (n.5620-26G>A)
c.5593-26G>A (n.5593-26G>A)
n.6177-26G>A
c.5947-26G>A (n.5947-26G>A)
c.5941-26G>A (n.5941-26G>A)
c.5938-26G>A (n.5938-26G>A)
c.5833-26G>A (n.5833-26G>A)
c.5830-26G>A (n.5830-26G>A)
n.5962-26G>A
n.5877-26G>A
n.5948-26G>A
dbSNP gnomAD v4
11g.77208404G>CCA2574931844MYO7Ac.5857-26G>C (n.5857-26G>C)
c.3684-26G>C
c.5710-26G>C (n.5710-26G>C)
c.3283-26G>C (n.3283-26G>C)
c.5743-26G>C (n.5743-26G>C)
n.3393-26G>C
n.771-26G>C
c.5740-26G>C (n.5740-26G>C)
c.5848-26G>C (n.5848-26G>C)
c.5851-26G>C (n.5851-26G>C)
c.5824-26G>C (n.5824-26G>C)
c.5761-26G>C (n.5761-26G>C)
c.5632-26G>C (n.5632-26G>C)
c.5620-26G>C (n.5620-26G>C)
c.5593-26G>C (n.5593-26G>C)
n.6177-26G>C
c.5947-26G>C (n.5947-26G>C)
c.5941-26G>C (n.5941-26G>C)
c.5938-26G>C (n.5938-26G>C)
c.5833-26G>C (n.5833-26G>C)
c.5830-26G>C (n.5830-26G>C)
n.5962-26G>C
n.5877-26G>C
n.5948-26G>C
11g.77208404G=CA1984128398MYO7Ac.5857-26G= (n.5857-26G=)
c.3684-26G=
c.5710-26G= (n.5710-26G=)
c.3283-26G= (n.3283-26G=)
c.5743-26G= (n.5743-26G=)
n.3393-26G=
n.771-26G=
c.5740-26G= (n.5740-26G=)
c.5848-26G= (n.5848-26G=)
c.5851-26G= (n.5851-26G=)
c.5824-26G= (n.5824-26G=)
c.5761-26G= (n.5761-26G=)
c.5632-26G= (n.5632-26G=)
c.5620-26G= (n.5620-26G=)
c.5593-26G= (n.5593-26G=)
n.6177-26G=
c.5947-26G= (n.5947-26G=)
c.5941-26G= (n.5941-26G=)
c.5938-26G= (n.5938-26G=)
c.5833-26G= (n.5833-26G=)
c.5830-26G= (n.5830-26G=)
n.5962-26G=
n.5877-26G=
n.5948-26G=
11g.77208404G>TCA2615255020MYO7Ac.5857-26G>T (n.5857-26G>T)
c.3684-26G>T
c.5710-26G>T (n.5710-26G>T)
c.3283-26G>T (n.3283-26G>T)
c.5743-26G>T (n.5743-26G>T)
n.3393-26G>T
n.771-26G>T
c.5740-26G>T (n.5740-26G>T)
c.5848-26G>T (n.5848-26G>T)
c.5851-26G>T (n.5851-26G>T)
c.5824-26G>T (n.5824-26G>T)
c.5761-26G>T (n.5761-26G>T)
c.5632-26G>T (n.5632-26G>T)
c.5620-26G>T (n.5620-26G>T)
c.5593-26G>T (n.5593-26G>T)
n.6177-26G>T
c.5947-26G>T (n.5947-26G>T)
c.5941-26G>T (n.5941-26G>T)
c.5938-26G>T (n.5938-26G>T)
c.5833-26G>T (n.5833-26G>T)
c.5830-26G>T (n.5830-26G>T)
n.5962-26G>T
n.5877-26G>T
n.5948-26G>T
gnomAD v4
11g.77208405T>CCA6198853MYO7Ac.5857-25T>C (n.5857-25T>C)
c.3684-25T>C
c.5710-25T>C (n.5710-25T>C)
c.3283-25T>C (n.3283-25T>C)
c.5743-25T>C (n.5743-25T>C)
n.3393-25T>C
n.771-25T>C
c.5740-25T>C (n.5740-25T>C)
c.5848-25T>C (n.5848-25T>C)
c.5851-25T>C (n.5851-25T>C)
c.5824-25T>C (n.5824-25T>C)
c.5761-25T>C (n.5761-25T>C)
c.5632-25T>C (n.5632-25T>C)
c.5620-25T>C (n.5620-25T>C)
c.5593-25T>C (n.5593-25T>C)
n.6177-25T>C
c.5947-25T>C (n.5947-25T>C)
c.5941-25T>C (n.5941-25T>C)
c.5938-25T>C (n.5938-25T>C)
c.5833-25T>C (n.5833-25T>C)
c.5830-25T>C (n.5830-25T>C)
n.5962-25T>C
n.5877-25T>C
n.5948-25T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77208405T>GCA939777850MYO7Ac.5857-25T>G (n.5857-25T>G)
c.3684-25T>G
c.5710-25T>G (n.5710-25T>G)
c.3283-25T>G (n.3283-25T>G)
c.5743-25T>G (n.5743-25T>G)
n.3393-25T>G
n.771-25T>G
c.5740-25T>G (n.5740-25T>G)
c.5848-25T>G (n.5848-25T>G)
c.5851-25T>G (n.5851-25T>G)
c.5824-25T>G (n.5824-25T>G)
c.5761-25T>G (n.5761-25T>G)
c.5632-25T>G (n.5632-25T>G)
c.5620-25T>G (n.5620-25T>G)
c.5593-25T>G (n.5593-25T>G)
n.6177-25T>G
c.5947-25T>G (n.5947-25T>G)
c.5941-25T>G (n.5941-25T>G)
c.5938-25T>G (n.5938-25T>G)
c.5833-25T>G (n.5833-25T>G)
c.5830-25T>G (n.5830-25T>G)
n.5962-25T>G
n.5877-25T>G
n.5948-25T>G
dbSNP gnomAD v3 gnomAD v4
11g.77208405T=CA1984128399MYO7Ac.5857-25T= (n.5857-25T=)
c.3684-25T=
c.5710-25T= (n.5710-25T=)
c.3283-25T= (n.3283-25T=)
c.5743-25T= (n.5743-25T=)
n.3393-25T=
n.771-25T=
c.5740-25T= (n.5740-25T=)
c.5848-25T= (n.5848-25T=)
c.5851-25T= (n.5851-25T=)
c.5824-25T= (n.5824-25T=)
c.5761-25T= (n.5761-25T=)
c.5632-25T= (n.5632-25T=)
c.5620-25T= (n.5620-25T=)
c.5593-25T= (n.5593-25T=)
n.6177-25T=
c.5947-25T= (n.5947-25T=)
c.5941-25T= (n.5941-25T=)
c.5938-25T= (n.5938-25T=)
c.5833-25T= (n.5833-25T=)
c.5830-25T= (n.5830-25T=)
n.5962-25T=
n.5877-25T=
n.5948-25T=
11g.77208405_77208406insTGACA2615255035MYO7Ac.5857-25_5857-24insTGA (n.5857-25_5857-24insTGA)
c.3684-25_3684-24insTGA
c.5710-25_5710-24insTGA (n.5710-25_5710-24insTGA)
c.3283-25_3283-24insTGA (n.3283-25_3283-24insTGA)
c.5743-25_5743-24insTGA (n.5743-25_5743-24insTGA)
n.3393-25_3393-24insTGA
n.771-25_771-24insTGA
c.5740-25_5740-24insTGA (n.5740-25_5740-24insTGA)
c.5848-25_5848-24insTGA (n.5848-25_5848-24insTGA)
c.5851-25_5851-24insTGA (n.5851-25_5851-24insTGA)
c.5824-25_5824-24insTGA (n.5824-25_5824-24insTGA)
c.5761-25_5761-24insTGA (n.5761-25_5761-24insTGA)
c.5632-25_5632-24insTGA (n.5632-25_5632-24insTGA)
c.5620-25_5620-24insTGA (n.5620-25_5620-24insTGA)
c.5593-25_5593-24insTGA (n.5593-25_5593-24insTGA)
n.6177-25_6177-24insTGA
c.5947-25_5947-24insTGA (n.5947-25_5947-24insTGA)
c.5941-25_5941-24insTGA (n.5941-25_5941-24insTGA)
c.5938-25_5938-24insTGA (n.5938-25_5938-24insTGA)
c.5833-25_5833-24insTGA (n.5833-25_5833-24insTGA)
c.5830-25_5830-24insTGA (n.5830-25_5830-24insTGA)
n.5962-25_5962-24insTGA
n.5877-25_5877-24insTGA
n.5948-25_5948-24insTGA
gnomAD v4
11g.77208405_77208406insTGAGCCA2724537986MYO7Ac.5857-25_5857-24insTGAGC (n.5857-25_5857-24insTGAGC)
c.3684-25_3684-24insTGAGC
c.5710-25_5710-24insTGAGC (n.5710-25_5710-24insTGAGC)
c.3283-25_3283-24insTGAGC (n.3283-25_3283-24insTGAGC)
c.5743-25_5743-24insTGAGC (n.5743-25_5743-24insTGAGC)
n.3393-25_3393-24insTGAGC
n.771-25_771-24insTGAGC
c.5740-25_5740-24insTGAGC (n.5740-25_5740-24insTGAGC)
c.5848-25_5848-24insTGAGC (n.5848-25_5848-24insTGAGC)
c.5851-25_5851-24insTGAGC (n.5851-25_5851-24insTGAGC)
c.5824-25_5824-24insTGAGC (n.5824-25_5824-24insTGAGC)
c.5761-25_5761-24insTGAGC (n.5761-25_5761-24insTGAGC)
c.5632-25_5632-24insTGAGC (n.5632-25_5632-24insTGAGC)
c.5620-25_5620-24insTGAGC (n.5620-25_5620-24insTGAGC)
c.5593-25_5593-24insTGAGC (n.5593-25_5593-24insTGAGC)
n.6177-25_6177-24insTGAGC
c.5947-25_5947-24insTGAGC (n.5947-25_5947-24insTGAGC)
c.5941-25_5941-24insTGAGC (n.5941-25_5941-24insTGAGC)
c.5938-25_5938-24insTGAGC (n.5938-25_5938-24insTGAGC)
c.5833-25_5833-24insTGAGC (n.5833-25_5833-24insTGAGC)
c.5830-25_5830-24insTGAGC (n.5830-25_5830-24insTGAGC)
n.5962-25_5962-24insTGAGC
n.5877-25_5877-24insTGAGC
n.5948-25_5948-24insTGAGC
dbSNP
11g.77208406G>ACA1984128401MYO7Ac.5857-24G>A (n.5857-24G>A)
c.3684-24G>A
c.5710-24G>A (n.5710-24G>A)
c.3283-24G>A (n.3283-24G>A)
c.5743-24G>A (n.5743-24G>A)
n.3393-24G>A
n.771-24G>A
c.5740-24G>A (n.5740-24G>A)
c.5848-24G>A (n.5848-24G>A)
c.5851-24G>A (n.5851-24G>A)
c.5824-24G>A (n.5824-24G>A)
c.5761-24G>A (n.5761-24G>A)
c.5632-24G>A (n.5632-24G>A)
c.5620-24G>A (n.5620-24G>A)
c.5593-24G>A (n.5593-24G>A)
n.6177-24G>A
c.5947-24G>A (n.5947-24G>A)
c.5941-24G>A (n.5941-24G>A)
c.5938-24G>A (n.5938-24G>A)
c.5833-24G>A (n.5833-24G>A)
c.5830-24G>A (n.5830-24G>A)
n.5962-24G>A
n.5877-24G>A
n.5948-24G>A
dbSNP gnomAD v4
11g.77208406G=CA1984128400MYO7Ac.5857-24G= (n.5857-24G=)
c.3684-24G=
c.5710-24G= (n.5710-24G=)
c.3283-24G= (n.3283-24G=)
c.5743-24G= (n.5743-24G=)
n.3393-24G=
n.771-24G=
c.5740-24G= (n.5740-24G=)
c.5848-24G= (n.5848-24G=)
c.5851-24G= (n.5851-24G=)
c.5824-24G= (n.5824-24G=)
c.5761-24G= (n.5761-24G=)
c.5632-24G= (n.5632-24G=)
c.5620-24G= (n.5620-24G=)
c.5593-24G= (n.5593-24G=)
n.6177-24G=
c.5947-24G= (n.5947-24G=)
c.5941-24G= (n.5941-24G=)
c.5938-24G= (n.5938-24G=)
c.5833-24G= (n.5833-24G=)
c.5830-24G= (n.5830-24G=)
n.5962-24G=
n.5877-24G=
n.5948-24G=
11g.77208408G>ACA600710873MYO7Ac.5857-22G>A (n.5857-22G>A)
c.3684-22G>A
c.5710-22G>A (n.5710-22G>A)
c.3283-22G>A (n.3283-22G>A)
c.5743-22G>A (n.5743-22G>A)
n.3393-22G>A
n.771-22G>A
c.5740-22G>A (n.5740-22G>A)
c.5848-22G>A (n.5848-22G>A)
c.5851-22G>A (n.5851-22G>A)
c.5824-22G>A (n.5824-22G>A)
c.5761-22G>A (n.5761-22G>A)
c.5632-22G>A (n.5632-22G>A)
c.5620-22G>A (n.5620-22G>A)
c.5593-22G>A (n.5593-22G>A)
n.6177-22G>A
c.5947-22G>A (n.5947-22G>A)
c.5941-22G>A (n.5941-22G>A)
c.5938-22G>A (n.5938-22G>A)
c.5833-22G>A (n.5833-22G>A)
c.5830-22G>A (n.5830-22G>A)
n.5962-22G>A
n.5877-22G>A
n.5948-22G>A
dbSNP gnomAD v2 gnomAD v4
11g.77208408G=CA1984128402MYO7Ac.5857-22G= (n.5857-22G=)
c.3684-22G=
c.5710-22G= (n.5710-22G=)
c.3283-22G= (n.3283-22G=)
c.5743-22G= (n.5743-22G=)
n.3393-22G=
n.771-22G=
c.5740-22G= (n.5740-22G=)
c.5848-22G= (n.5848-22G=)
c.5851-22G= (n.5851-22G=)
c.5824-22G= (n.5824-22G=)
c.5761-22G= (n.5761-22G=)
c.5632-22G= (n.5632-22G=)
c.5620-22G= (n.5620-22G=)
c.5593-22G= (n.5593-22G=)
n.6177-22G=
c.5947-22G= (n.5947-22G=)
c.5941-22G= (n.5941-22G=)
c.5938-22G= (n.5938-22G=)
c.5833-22G= (n.5833-22G=)
c.5830-22G= (n.5830-22G=)
n.5962-22G=
n.5877-22G=
n.5948-22G=
11g.77208408G>TCA2615255070MYO7Ac.5857-22G>T (n.5857-22G>T)
c.3684-22G>T
c.5710-22G>T (n.5710-22G>T)
c.3283-22G>T (n.3283-22G>T)
c.5743-22G>T (n.5743-22G>T)
n.3393-22G>T
n.771-22G>T
c.5740-22G>T (n.5740-22G>T)
c.5848-22G>T (n.5848-22G>T)
c.5851-22G>T (n.5851-22G>T)
c.5824-22G>T (n.5824-22G>T)
c.5761-22G>T (n.5761-22G>T)
c.5632-22G>T (n.5632-22G>T)
c.5620-22G>T (n.5620-22G>T)
c.5593-22G>T (n.5593-22G>T)
n.6177-22G>T
c.5947-22G>T (n.5947-22G>T)
c.5941-22G>T (n.5941-22G>T)
c.5938-22G>T (n.5938-22G>T)
c.5833-22G>T (n.5833-22G>T)
c.5830-22G>T (n.5830-22G>T)
n.5962-22G>T
n.5877-22G>T
n.5948-22G>T
gnomAD v4
11g.77208409C>ACA2574931845MYO7Ac.5857-21C>A (n.5857-21C>A)
c.3684-21C>A
c.5710-21C>A (n.5710-21C>A)
c.3283-21C>A (n.3283-21C>A)
c.5743-21C>A (n.5743-21C>A)
n.3393-21C>A
n.771-21C>A
c.5740-21C>A (n.5740-21C>A)
c.5848-21C>A (n.5848-21C>A)
c.5851-21C>A (n.5851-21C>A)
c.5824-21C>A (n.5824-21C>A)
c.5761-21C>A (n.5761-21C>A)
c.5632-21C>A (n.5632-21C>A)
c.5620-21C>A (n.5620-21C>A)
c.5593-21C>A (n.5593-21C>A)
n.6177-21C>A
c.5947-21C>A (n.5947-21C>A)
c.5941-21C>A (n.5941-21C>A)
c.5938-21C>A (n.5938-21C>A)
c.5833-21C>A (n.5833-21C>A)
c.5830-21C>A (n.5830-21C>A)
n.5962-21C>A
n.5877-21C>A
n.5948-21C>A
gnomAD v4
11g.77208409C=CA1984128404MYO7Ac.5857-21C= (n.5857-21C=)
c.3684-21C=
c.5710-21C= (n.5710-21C=)
c.3283-21C= (n.3283-21C=)
c.5743-21C= (n.5743-21C=)
n.3393-21C=
n.771-21C=
c.5740-21C= (n.5740-21C=)
c.5848-21C= (n.5848-21C=)
c.5851-21C= (n.5851-21C=)
c.5824-21C= (n.5824-21C=)
c.5761-21C= (n.5761-21C=)
c.5632-21C= (n.5632-21C=)
c.5620-21C= (n.5620-21C=)
c.5593-21C= (n.5593-21C=)
n.6177-21C=
c.5947-21C= (n.5947-21C=)
c.5941-21C= (n.5941-21C=)
c.5938-21C= (n.5938-21C=)
c.5833-21C= (n.5833-21C=)
c.5830-21C= (n.5830-21C=)
n.5962-21C=
n.5877-21C=
n.5948-21C=
11g.77208409C>TCA1984128403MYO7Ac.5857-21C>T (n.5857-21C>T)
c.3684-21C>T
c.5710-21C>T (n.5710-21C>T)
c.3283-21C>T (n.3283-21C>T)
c.5743-21C>T (n.5743-21C>T)
n.3393-21C>T
n.771-21C>T
c.5740-21C>T (n.5740-21C>T)
c.5848-21C>T (n.5848-21C>T)
c.5851-21C>T (n.5851-21C>T)
c.5824-21C>T (n.5824-21C>T)
c.5761-21C>T (n.5761-21C>T)
c.5632-21C>T (n.5632-21C>T)
c.5620-21C>T (n.5620-21C>T)
c.5593-21C>T (n.5593-21C>T)
n.6177-21C>T
c.5947-21C>T (n.5947-21C>T)
c.5941-21C>T (n.5941-21C>T)
c.5938-21C>T (n.5938-21C>T)
c.5833-21C>T (n.5833-21C>T)
c.5830-21C>T (n.5830-21C>T)
n.5962-21C>T
n.5877-21C>T
n.5948-21C>T
dbSNP gnomAD v4
11g.77208412C>ACA2615255087MYO7Ac.5857-18C>A (n.5857-18C>A)
c.3684-18C>A
c.5710-18C>A (n.5710-18C>A)
c.3283-18C>A (n.3283-18C>A)
c.5743-18C>A (n.5743-18C>A)
n.3393-18C>A
n.771-18C>A
c.5740-18C>A (n.5740-18C>A)
c.5848-18C>A (n.5848-18C>A)
c.5851-18C>A (n.5851-18C>A)
c.5824-18C>A (n.5824-18C>A)
c.5761-18C>A (n.5761-18C>A)
c.5632-18C>A (n.5632-18C>A)
c.5620-18C>A (n.5620-18C>A)
c.5593-18C>A (n.5593-18C>A)
n.6177-18C>A
c.5947-18C>A (n.5947-18C>A)
c.5941-18C>A (n.5941-18C>A)
c.5938-18C>A (n.5938-18C>A)
c.5833-18C>A (n.5833-18C>A)
c.5830-18C>A (n.5830-18C>A)
n.5962-18C>A
n.5877-18C>A
n.5948-18C>A
gnomAD v4
11g.77208412C=CA1984128405MYO7Ac.5857-18C= (n.5857-18C=)
c.3684-18C=
c.5710-18C= (n.5710-18C=)
c.3283-18C= (n.3283-18C=)
c.5743-18C= (n.5743-18C=)
n.3393-18C=
n.771-18C=
c.5740-18C= (n.5740-18C=)
c.5848-18C= (n.5848-18C=)
c.5851-18C= (n.5851-18C=)
c.5824-18C= (n.5824-18C=)
c.5761-18C= (n.5761-18C=)
c.5632-18C= (n.5632-18C=)
c.5620-18C= (n.5620-18C=)
c.5593-18C= (n.5593-18C=)
n.6177-18C=
c.5947-18C= (n.5947-18C=)
c.5941-18C= (n.5941-18C=)
c.5938-18C= (n.5938-18C=)
c.5833-18C= (n.5833-18C=)
c.5830-18C= (n.5830-18C=)
n.5962-18C=
n.5877-18C=
n.5948-18C=
11g.77208412C>TCA6198854MYO7Ac.5857-18C>T (n.5857-18C>T)
c.3684-18C>T
c.5710-18C>T (n.5710-18C>T)
c.3283-18C>T (n.3283-18C>T)
c.5743-18C>T (n.5743-18C>T)
n.3393-18C>T
n.771-18C>T
c.5740-18C>T (n.5740-18C>T)
c.5848-18C>T (n.5848-18C>T)
c.5851-18C>T (n.5851-18C>T)
c.5824-18C>T (n.5824-18C>T)
c.5761-18C>T (n.5761-18C>T)
c.5632-18C>T (n.5632-18C>T)
c.5620-18C>T (n.5620-18C>T)
c.5593-18C>T (n.5593-18C>T)
n.6177-18C>T
c.5947-18C>T (n.5947-18C>T)
c.5941-18C>T (n.5941-18C>T)
c.5938-18C>T (n.5938-18C>T)
c.5833-18C>T (n.5833-18C>T)
c.5830-18C>T (n.5830-18C>T)
n.5962-18C>T
n.5877-18C>T
n.5948-18C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77208413G>ACA6198855MYO7Ac.5857-17G>A (n.5857-17G>A)
c.3684-17G>A
c.5710-17G>A (n.5710-17G>A)
c.3283-17G>A (n.3283-17G>A)
c.5743-17G>A (n.5743-17G>A)
n.3393-17G>A
n.771-17G>A
c.5740-17G>A (n.5740-17G>A)
c.5848-17G>A (n.5848-17G>A)
c.5851-17G>A (n.5851-17G>A)
c.5824-17G>A (n.5824-17G>A)
c.5761-17G>A (n.5761-17G>A)
c.5632-17G>A (n.5632-17G>A)
c.5620-17G>A (n.5620-17G>A)
c.5593-17G>A (n.5593-17G>A)
n.6177-17G>A
c.5947-17G>A (n.5947-17G>A)
c.5941-17G>A (n.5941-17G>A)
c.5938-17G>A (n.5938-17G>A)
c.5833-17G>A (n.5833-17G>A)
c.5830-17G>A (n.5830-17G>A)
n.5962-17G>A
n.5877-17G>A
n.5948-17G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77208413G>CCA680425056MYO7Ac.5857-17G>C (n.5857-17G>C)
c.3684-17G>C
c.5710-17G>C (n.5710-17G>C)
c.3283-17G>C (n.3283-17G>C)
c.5743-17G>C (n.5743-17G>C)
n.3393-17G>C
n.771-17G>C
c.5740-17G>C (n.5740-17G>C)
c.5848-17G>C (n.5848-17G>C)
c.5851-17G>C (n.5851-17G>C)
c.5824-17G>C (n.5824-17G>C)
c.5761-17G>C (n.5761-17G>C)
c.5632-17G>C (n.5632-17G>C)
c.5620-17G>C (n.5620-17G>C)
c.5593-17G>C (n.5593-17G>C)
n.6177-17G>C
c.5947-17G>C (n.5947-17G>C)
c.5941-17G>C (n.5941-17G>C)
c.5938-17G>C (n.5938-17G>C)
c.5833-17G>C (n.5833-17G>C)
c.5830-17G>C (n.5830-17G>C)
n.5962-17G>C
n.5877-17G>C
n.5948-17G>C
dbSNP gnomAD v4
11g.77208413G=CA1984128406MYO7Ac.5857-17G= (n.5857-17G=)
c.3684-17G=
c.5710-17G= (n.5710-17G=)
c.3283-17G= (n.3283-17G=)
c.5743-17G= (n.5743-17G=)
n.3393-17G=
n.771-17G=
c.5740-17G= (n.5740-17G=)
c.5848-17G= (n.5848-17G=)
c.5851-17G= (n.5851-17G=)
c.5824-17G= (n.5824-17G=)
c.5761-17G= (n.5761-17G=)
c.5632-17G= (n.5632-17G=)
c.5620-17G= (n.5620-17G=)
c.5593-17G= (n.5593-17G=)
n.6177-17G=
c.5947-17G= (n.5947-17G=)
c.5941-17G= (n.5941-17G=)
c.5938-17G= (n.5938-17G=)
c.5833-17G= (n.5833-17G=)
c.5830-17G= (n.5830-17G=)
n.5962-17G=
n.5877-17G=
n.5948-17G=
11g.77208413G>TCA2615255131MYO7Ac.5857-17G>T (n.5857-17G>T)
c.3684-17G>T
c.5710-17G>T (n.5710-17G>T)
c.3283-17G>T (n.3283-17G>T)
c.5743-17G>T (n.5743-17G>T)
n.3393-17G>T
n.771-17G>T
c.5740-17G>T (n.5740-17G>T)
c.5848-17G>T (n.5848-17G>T)
c.5851-17G>T (n.5851-17G>T)
c.5824-17G>T (n.5824-17G>T)
c.5761-17G>T (n.5761-17G>T)
c.5632-17G>T (n.5632-17G>T)
c.5620-17G>T (n.5620-17G>T)
c.5593-17G>T (n.5593-17G>T)
n.6177-17G>T
c.5947-17G>T (n.5947-17G>T)
c.5941-17G>T (n.5941-17G>T)
c.5938-17G>T (n.5938-17G>T)
c.5833-17G>T (n.5833-17G>T)
c.5830-17G>T (n.5830-17G>T)
n.5962-17G>T
n.5877-17G>T
n.5948-17G>T
gnomAD v4
11g.77208414A>GCA475791548MYO7Ac.5857-16A>G (n.5857-16A>G)
c.3684-16A>G
c.5710-16A>G (n.5710-16A>G)
c.3283-16A>G (n.3283-16A>G)
c.5743-16A>G (n.5743-16A>G)
n.3393-16A>G
n.771-16A>G
c.5740-16A>G (n.5740-16A>G)
c.5848-16A>G (n.5848-16A>G)
c.5851-16A>G (n.5851-16A>G)
c.5824-16A>G (n.5824-16A>G)
c.5761-16A>G (n.5761-16A>G)
c.5632-16A>G (n.5632-16A>G)
c.5620-16A>G (n.5620-16A>G)
c.5593-16A>G (n.5593-16A>G)
n.6177-16A>G
c.5947-16A>G (n.5947-16A>G)
c.5941-16A>G (n.5941-16A>G)
c.5938-16A>G (n.5938-16A>G)
c.5833-16A>G (n.5833-16A>G)
c.5830-16A>G (n.5830-16A>G)
n.5962-16A>G
n.5877-16A>G
n.5948-16A>G
11g.77208416G>TCA2615255135MYO7Ac.5857-14G>T (n.5857-14G>T)
c.3684-14G>T
c.5710-14G>T (n.5710-14G>T)
c.3283-14G>T (n.3283-14G>T)
c.5743-14G>T (n.5743-14G>T)
n.3393-14G>T
n.771-14G>T
c.5740-14G>T (n.5740-14G>T)
c.5848-14G>T (n.5848-14G>T)
c.5851-14G>T (n.5851-14G>T)
c.5824-14G>T (n.5824-14G>T)
c.5761-14G>T (n.5761-14G>T)
c.5632-14G>T (n.5632-14G>T)
c.5620-14G>T (n.5620-14G>T)
c.5593-14G>T (n.5593-14G>T)
n.6177-14G>T
c.5947-14G>T (n.5947-14G>T)
c.5941-14G>T (n.5941-14G>T)
c.5938-14G>T (n.5938-14G>T)
c.5833-14G>T (n.5833-14G>T)
c.5830-14G>T (n.5830-14G>T)
n.5962-14G>T
n.5877-14G>T
n.5948-14G>T
gnomAD v4
11g.77208417delCA2615255134MYO7Ac.5857-13del (n.5857-13del)
c.3684-13del
c.5710-13del (n.5710-13del)
c.3283-13del (n.3283-13del)
c.5743-13del (n.5743-13del)
n.3393-13del
n.771-13del
c.5740-13del (n.5740-13del)
c.5848-13del (n.5848-13del)
c.5851-13del (n.5851-13del)
c.5824-13del (n.5824-13del)
c.5761-13del (n.5761-13del)
c.5632-13del (n.5632-13del)
c.5620-13del (n.5620-13del)
c.5593-13del (n.5593-13del)
n.6177-13del
c.5947-13del (n.5947-13del)
c.5941-13del (n.5941-13del)
c.5938-13del (n.5938-13del)
c.5833-13del (n.5833-13del)
c.5830-13del (n.5830-13del)
n.5962-13del
n.5877-13del
n.5948-13del
gnomAD v4
11g.77208417G>ACA2574931846MYO7Ac.5857-13G>A (n.5857-13G>A)
c.3684-13G>A
c.5710-13G>A (n.5710-13G>A)
c.3283-13G>A (n.3283-13G>A)
c.5743-13G>A (n.5743-13G>A)
n.3393-13G>A
n.771-13G>A
c.5740-13G>A (n.5740-13G>A)
c.5848-13G>A (n.5848-13G>A)
c.5851-13G>A (n.5851-13G>A)
c.5824-13G>A (n.5824-13G>A)
c.5761-13G>A (n.5761-13G>A)
c.5632-13G>A (n.5632-13G>A)
c.5620-13G>A (n.5620-13G>A)
c.5593-13G>A (n.5593-13G>A)
n.6177-13G>A
c.5947-13G>A (n.5947-13G>A)
c.5941-13G>A (n.5941-13G>A)
c.5938-13G>A (n.5938-13G>A)
c.5833-13G>A (n.5833-13G>A)
c.5830-13G>A (n.5830-13G>A)
n.5962-13G>A
n.5877-13G>A
n.5948-13G>A
gnomAD v4
11g.77208417G>TCA2615255137MYO7Ac.5857-13G>T (n.5857-13G>T)
c.3684-13G>T
c.5710-13G>T (n.5710-13G>T)
c.3283-13G>T (n.3283-13G>T)
c.5743-13G>T (n.5743-13G>T)
n.3393-13G>T
n.771-13G>T
c.5740-13G>T (n.5740-13G>T)
c.5848-13G>T (n.5848-13G>T)
c.5851-13G>T (n.5851-13G>T)
c.5824-13G>T (n.5824-13G>T)
c.5761-13G>T (n.5761-13G>T)
c.5632-13G>T (n.5632-13G>T)
c.5620-13G>T (n.5620-13G>T)
c.5593-13G>T (n.5593-13G>T)
n.6177-13G>T
c.5947-13G>T (n.5947-13G>T)
c.5941-13G>T (n.5941-13G>T)
c.5938-13G>T (n.5938-13G>T)
c.5833-13G>T (n.5833-13G>T)
c.5830-13G>T (n.5830-13G>T)
n.5962-13G>T
n.5877-13G>T
n.5948-13G>T
gnomAD v4
11g.77208418C>ACA2615255143MYO7Ac.5857-12C>A (n.5857-12C>A)
c.3684-12C>A
c.5710-12C>A (n.5710-12C>A)
c.3283-12C>A (n.3283-12C>A)
c.5743-12C>A (n.5743-12C>A)
n.3393-12C>A
n.771-12C>A
c.5740-12C>A (n.5740-12C>A)
c.5848-12C>A (n.5848-12C>A)
c.5851-12C>A (n.5851-12C>A)
c.5824-12C>A (n.5824-12C>A)
c.5761-12C>A (n.5761-12C>A)
c.5632-12C>A (n.5632-12C>A)
c.5620-12C>A (n.5620-12C>A)
c.5593-12C>A (n.5593-12C>A)
n.6177-12C>A
c.5947-12C>A (n.5947-12C>A)
c.5941-12C>A (n.5941-12C>A)
c.5938-12C>A (n.5938-12C>A)
c.5833-12C>A (n.5833-12C>A)
c.5830-12C>A (n.5830-12C>A)
n.5962-12C>A
n.5877-12C>A
n.5948-12C>A
gnomAD v4
11g.77208418C=CA1984128407MYO7Ac.5857-12C= (n.5857-12C=)
c.3684-12C=
c.5710-12C= (n.5710-12C=)
c.3283-12C= (n.3283-12C=)
c.5743-12C= (n.5743-12C=)
n.3393-12C=
n.771-12C=
c.5740-12C= (n.5740-12C=)
c.5848-12C= (n.5848-12C=)
c.5851-12C= (n.5851-12C=)
c.5824-12C= (n.5824-12C=)
c.5761-12C= (n.5761-12C=)
c.5632-12C= (n.5632-12C=)
c.5620-12C= (n.5620-12C=)
c.5593-12C= (n.5593-12C=)
n.6177-12C=
c.5947-12C= (n.5947-12C=)
c.5941-12C= (n.5941-12C=)
c.5938-12C= (n.5938-12C=)
c.5833-12C= (n.5833-12C=)
c.5830-12C= (n.5830-12C=)
n.5962-12C=
n.5877-12C=
n.5948-12C=
11g.77208418C>GCA680425057MYO7Ac.5857-12C>G (n.5857-12C>G)
c.3684-12C>G
c.5710-12C>G (n.5710-12C>G)
c.3283-12C>G (n.3283-12C>G)
c.5743-12C>G (n.5743-12C>G)
n.3393-12C>G
n.771-12C>G
c.5740-12C>G (n.5740-12C>G)
c.5848-12C>G (n.5848-12C>G)
c.5851-12C>G (n.5851-12C>G)
c.5824-12C>G (n.5824-12C>G)
c.5761-12C>G (n.5761-12C>G)
c.5632-12C>G (n.5632-12C>G)
c.5620-12C>G (n.5620-12C>G)
c.5593-12C>G (n.5593-12C>G)
n.6177-12C>G
c.5947-12C>G (n.5947-12C>G)
c.5941-12C>G (n.5941-12C>G)
c.5938-12C>G (n.5938-12C>G)
c.5833-12C>G (n.5833-12C>G)
c.5830-12C>G (n.5830-12C>G)
n.5962-12C>G
n.5877-12C>G
n.5948-12C>G
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77208418C>TCA2615255162MYO7Ac.5857-12C>T (n.5857-12C>T)
c.3684-12C>T
c.5710-12C>T (n.5710-12C>T)
c.3283-12C>T (n.3283-12C>T)
c.5743-12C>T (n.5743-12C>T)
n.3393-12C>T
n.771-12C>T
c.5740-12C>T (n.5740-12C>T)
c.5848-12C>T (n.5848-12C>T)
c.5851-12C>T (n.5851-12C>T)
c.5824-12C>T (n.5824-12C>T)
c.5761-12C>T (n.5761-12C>T)
c.5632-12C>T (n.5632-12C>T)
c.5620-12C>T (n.5620-12C>T)
c.5593-12C>T (n.5593-12C>T)
n.6177-12C>T
c.5947-12C>T (n.5947-12C>T)
c.5941-12C>T (n.5941-12C>T)
c.5938-12C>T (n.5938-12C>T)
c.5833-12C>T (n.5833-12C>T)
c.5830-12C>T (n.5830-12C>T)
n.5962-12C>T
n.5877-12C>T
n.5948-12C>T
gnomAD v4
11g.77208419C>ACA2615255163MYO7Ac.5857-11C>A (n.5857-11C>A)
c.3684-11C>A
c.5710-11C>A (n.5710-11C>A)
c.3283-11C>A (n.3283-11C>A)
c.5743-11C>A (n.5743-11C>A)
n.3393-11C>A
n.771-11C>A
c.5740-11C>A (n.5740-11C>A)
c.5848-11C>A (n.5848-11C>A)
c.5851-11C>A (n.5851-11C>A)
c.5824-11C>A (n.5824-11C>A)
c.5761-11C>A (n.5761-11C>A)
c.5632-11C>A (n.5632-11C>A)
c.5620-11C>A (n.5620-11C>A)
c.5593-11C>A (n.5593-11C>A)
n.6177-11C>A
c.5947-11C>A (n.5947-11C>A)
c.5941-11C>A (n.5941-11C>A)
c.5938-11C>A (n.5938-11C>A)
c.5833-11C>A (n.5833-11C>A)
c.5830-11C>A (n.5830-11C>A)
n.5962-11C>A
n.5877-11C>A
n.5948-11C>A
gnomAD v4
11g.77208419C>GCA2697548852MYO7Ac.5857-11C>G (n.5857-11C>G)
c.3684-11C>G
c.5710-11C>G (n.5710-11C>G)
c.3283-11C>G (n.3283-11C>G)
c.5743-11C>G (n.5743-11C>G)
n.3393-11C>G
n.771-11C>G
c.5740-11C>G (n.5740-11C>G)
c.5848-11C>G (n.5848-11C>G)
c.5851-11C>G (n.5851-11C>G)
c.5824-11C>G (n.5824-11C>G)
c.5761-11C>G (n.5761-11C>G)
c.5632-11C>G (n.5632-11C>G)
c.5620-11C>G (n.5620-11C>G)
c.5593-11C>G (n.5593-11C>G)
n.6177-11C>G
c.5947-11C>G (n.5947-11C>G)
c.5941-11C>G (n.5941-11C>G)
c.5938-11C>G (n.5938-11C>G)
c.5833-11C>G (n.5833-11C>G)
c.5830-11C>G (n.5830-11C>G)
n.5962-11C>G
n.5877-11C>G
n.5948-11C>G
ClinVar
11g.77208420C>ACA2615255168MYO7Ac.5857-10C>A (n.5857-10C>A)
c.3684-10C>A
c.5710-10C>A (n.5710-10C>A)
c.3283-10C>A (n.3283-10C>A)
c.5743-10C>A (n.5743-10C>A)
n.3393-10C>A
n.771-10C>A
c.5740-10C>A (n.5740-10C>A)
c.5848-10C>A (n.5848-10C>A)
c.5851-10C>A (n.5851-10C>A)
c.5824-10C>A (n.5824-10C>A)
c.5761-10C>A (n.5761-10C>A)
c.5632-10C>A (n.5632-10C>A)
c.5620-10C>A (n.5620-10C>A)
c.5593-10C>A (n.5593-10C>A)
n.6177-10C>A
c.5947-10C>A (n.5947-10C>A)
c.5941-10C>A (n.5941-10C>A)
c.5938-10C>A (n.5938-10C>A)
c.5833-10C>A (n.5833-10C>A)
c.5830-10C>A (n.5830-10C>A)
n.5962-10C>A
n.5877-10C>A
n.5948-10C>A
gnomAD v4
11g.77208420_77208421delCA2615255166MYO7Ac.5857-10_5857-9del (n.5857-10_5857-9del)
c.3684-10_3684-9del
c.5710-10_5710-9del (n.5710-10_5710-9del)
c.3283-10_3283-9del (n.3283-10_3283-9del)
c.5743-10_5743-9del (n.5743-10_5743-9del)
n.3393-10_3393-9del
n.771-10_771-9del
c.5740-10_5740-9del (n.5740-10_5740-9del)
c.5848-10_5848-9del (n.5848-10_5848-9del)
c.5851-10_5851-9del (n.5851-10_5851-9del)
c.5824-10_5824-9del (n.5824-10_5824-9del)
c.5761-10_5761-9del (n.5761-10_5761-9del)
c.5632-10_5632-9del (n.5632-10_5632-9del)
c.5620-10_5620-9del (n.5620-10_5620-9del)
c.5593-10_5593-9del (n.5593-10_5593-9del)
n.6177-10_6177-9del
c.5947-10_5947-9del (n.5947-10_5947-9del)
c.5941-10_5941-9del (n.5941-10_5941-9del)
c.5938-10_5938-9del (n.5938-10_5938-9del)
c.5833-10_5833-9del (n.5833-10_5833-9del)
c.5830-10_5830-9del (n.5830-10_5830-9del)
n.5962-10_5962-9del
n.5877-10_5877-9del
n.5948-10_5948-9del
gnomAD v4
11g.77208421T>CCA6198856MYO7Ac.5857-9T>C (n.5857-9T>C)
c.3684-9T>C
c.5710-9T>C (n.5710-9T>C)
c.3283-9T>C (n.3283-9T>C)
c.5743-9T>C (n.5743-9T>C)
n.3393-9T>C
n.771-9T>C
c.5740-9T>C (n.5740-9T>C)
c.5848-9T>C (n.5848-9T>C)
c.5851-9T>C (n.5851-9T>C)
c.5824-9T>C (n.5824-9T>C)
c.5761-9T>C (n.5761-9T>C)
c.5632-9T>C (n.5632-9T>C)
c.5620-9T>C (n.5620-9T>C)
c.5593-9T>C (n.5593-9T>C)
n.6177-9T>C
c.5947-9T>C (n.5947-9T>C)
c.5941-9T>C (n.5941-9T>C)
c.5938-9T>C (n.5938-9T>C)
c.5833-9T>C (n.5833-9T>C)
c.5830-9T>C (n.5830-9T>C)
n.5962-9T>C
n.5877-9T>C
n.5948-9T>C
dbSNP ExAC gnomAD v4
11g.77208421T>GCA2724202211MYO7Ac.5857-9T>G (n.5857-9T>G)
c.3684-9T>G
c.5710-9T>G (n.5710-9T>G)
c.3283-9T>G (n.3283-9T>G)
c.5743-9T>G (n.5743-9T>G)
n.3393-9T>G
n.771-9T>G
c.5740-9T>G (n.5740-9T>G)
c.5848-9T>G (n.5848-9T>G)
c.5851-9T>G (n.5851-9T>G)
c.5824-9T>G (n.5824-9T>G)
c.5761-9T>G (n.5761-9T>G)
c.5632-9T>G (n.5632-9T>G)
c.5620-9T>G (n.5620-9T>G)
c.5593-9T>G (n.5593-9T>G)
n.6177-9T>G
c.5947-9T>G (n.5947-9T>G)
c.5941-9T>G (n.5941-9T>G)
c.5938-9T>G (n.5938-9T>G)
c.5833-9T>G (n.5833-9T>G)
c.5830-9T>G (n.5830-9T>G)
n.5962-9T>G
n.5877-9T>G
n.5948-9T>G
dbSNP
11g.77208421T=CA1984128408MYO7Ac.5857-9T= (n.5857-9T=)
c.3684-9T=
c.5710-9T= (n.5710-9T=)
c.3283-9T= (n.3283-9T=)
c.5743-9T= (n.5743-9T=)
n.3393-9T=
n.771-9T=
c.5740-9T= (n.5740-9T=)
c.5848-9T= (n.5848-9T=)
c.5851-9T= (n.5851-9T=)
c.5824-9T= (n.5824-9T=)
c.5761-9T= (n.5761-9T=)
c.5632-9T= (n.5632-9T=)
c.5620-9T= (n.5620-9T=)
c.5593-9T= (n.5593-9T=)
n.6177-9T=
c.5947-9T= (n.5947-9T=)
c.5941-9T= (n.5941-9T=)
c.5938-9T= (n.5938-9T=)
c.5833-9T= (n.5833-9T=)
c.5830-9T= (n.5830-9T=)
n.5962-9T=
n.5877-9T=
n.5948-9T=
11g.77208422G=CA1984128409MYO7Ac.5857-8G= (n.5857-8G=)
c.3684-8G=
c.5710-8G= (n.5710-8G=)
c.3283-8G= (n.3283-8G=)
c.5743-8G= (n.5743-8G=)
n.3393-8G=
n.771-8G=
c.5740-8G= (n.5740-8G=)
c.5848-8G= (n.5848-8G=)
c.5851-8G= (n.5851-8G=)
c.5824-8G= (n.5824-8G=)
c.5761-8G= (n.5761-8G=)
c.5632-8G= (n.5632-8G=)
c.5620-8G= (n.5620-8G=)
c.5593-8G= (n.5593-8G=)
n.6177-8G=
c.5947-8G= (n.5947-8G=)
c.5941-8G= (n.5941-8G=)
c.5938-8G= (n.5938-8G=)
c.5833-8G= (n.5833-8G=)
c.5830-8G= (n.5830-8G=)
n.5962-8G=
n.5877-8G=
n.5948-8G=
11g.77208422G>TCA2615255172MYO7Ac.5857-8G>T (n.5857-8G>T)
c.3684-8G>T
c.5710-8G>T (n.5710-8G>T)
c.3283-8G>T (n.3283-8G>T)
c.5743-8G>T (n.5743-8G>T)
n.3393-8G>T
n.771-8G>T
c.5740-8G>T (n.5740-8G>T)
c.5848-8G>T (n.5848-8G>T)
c.5851-8G>T (n.5851-8G>T)
c.5824-8G>T (n.5824-8G>T)
c.5761-8G>T (n.5761-8G>T)
c.5632-8G>T (n.5632-8G>T)
c.5620-8G>T (n.5620-8G>T)
c.5593-8G>T (n.5593-8G>T)
n.6177-8G>T
c.5947-8G>T (n.5947-8G>T)
c.5941-8G>T (n.5941-8G>T)
c.5938-8G>T (n.5938-8G>T)
c.5833-8G>T (n.5833-8G>T)
c.5830-8G>T (n.5830-8G>T)
n.5962-8G>T
n.5877-8G>T
n.5948-8G>T
gnomAD v4
11g.77208422_77208423delinsTTCA2580084979MYO7Ac.5857-8_5857-7delinsTT (n.5857-8_5857-7delinsTT)
c.3684-8_3684-7delinsTT
c.5710-8_5710-7delinsTT (n.5710-8_5710-7delinsTT)
c.3283-8_3283-7delinsTT (n.3283-8_3283-7delinsTT)
c.5743-8_5743-7delinsTT (n.5743-8_5743-7delinsTT)
n.3393-8_3393-7delinsTT
n.771-8_771-7delinsTT
c.5740-8_5740-7delinsTT (n.5740-8_5740-7delinsTT)
c.5848-8_5848-7delinsTT (n.5848-8_5848-7delinsTT)
c.5851-8_5851-7delinsTT (n.5851-8_5851-7delinsTT)
c.5824-8_5824-7delinsTT (n.5824-8_5824-7delinsTT)
c.5761-8_5761-7delinsTT (n.5761-8_5761-7delinsTT)
c.5632-8_5632-7delinsTT (n.5632-8_5632-7delinsTT)
c.5620-8_5620-7delinsTT (n.5620-8_5620-7delinsTT)
c.5593-8_5593-7delinsTT (n.5593-8_5593-7delinsTT)
n.6177-8_6177-7delinsTT
c.5947-8_5947-7delinsTT (n.5947-8_5947-7delinsTT)
c.5941-8_5941-7delinsTT (n.5941-8_5941-7delinsTT)
c.5938-8_5938-7delinsTT (n.5938-8_5938-7delinsTT)
c.5833-8_5833-7delinsTT (n.5833-8_5833-7delinsTT)
c.5830-8_5830-7delinsTT (n.5830-8_5830-7delinsTT)
n.5962-8_5962-7delinsTT
n.5877-8_5877-7delinsTT
n.5948-8_5948-7delinsTT
ClinVar
11g.77208422_77208423insTCCCCCA600710874MYO7Ac.5857-8_5857-7insTCCCC (n.5857-8_5857-7insTCCCC)
c.3684-8_3684-7insTCCCC
c.5710-8_5710-7insTCCCC (n.5710-8_5710-7insTCCCC)
c.3283-8_3283-7insTCCCC (n.3283-8_3283-7insTCCCC)
c.5743-8_5743-7insTCCCC (n.5743-8_5743-7insTCCCC)
n.3393-8_3393-7insTCCCC
n.771-8_771-7insTCCCC
c.5740-8_5740-7insTCCCC (n.5740-8_5740-7insTCCCC)
c.5848-8_5848-7insTCCCC (n.5848-8_5848-7insTCCCC)
c.5851-8_5851-7insTCCCC (n.5851-8_5851-7insTCCCC)
c.5824-8_5824-7insTCCCC (n.5824-8_5824-7insTCCCC)
c.5761-8_5761-7insTCCCC (n.5761-8_5761-7insTCCCC)
c.5632-8_5632-7insTCCCC (n.5632-8_5632-7insTCCCC)
c.5620-8_5620-7insTCCCC (n.5620-8_5620-7insTCCCC)
c.5593-8_5593-7insTCCCC (n.5593-8_5593-7insTCCCC)
n.6177-8_6177-7insTCCCC
c.5947-8_5947-7insTCCCC (n.5947-8_5947-7insTCCCC)
c.5941-8_5941-7insTCCCC (n.5941-8_5941-7insTCCCC)
c.5938-8_5938-7insTCCCC (n.5938-8_5938-7insTCCCC)
c.5833-8_5833-7insTCCCC (n.5833-8_5833-7insTCCCC)
c.5830-8_5830-7insTCCCC (n.5830-8_5830-7insTCCCC)
n.5962-8_5962-7insTCCCC
n.5877-8_5877-7insTCCCC
n.5948-8_5948-7insTCCCC
dbSNP gnomAD v2 gnomAD v4
11g.77208423delCA2615255187MYO7Ac.5857-7del (n.5857-7del)
c.3684-7del
c.5710-7del (n.5710-7del)
c.3283-7del (n.3283-7del)
c.5743-7del (n.5743-7del)
n.3393-7del
n.771-7del
c.5740-7del (n.5740-7del)
c.5848-7del (n.5848-7del)
c.5851-7del (n.5851-7del)
c.5824-7del (n.5824-7del)
c.5761-7del (n.5761-7del)
c.5632-7del (n.5632-7del)
c.5620-7del (n.5620-7del)
c.5593-7del (n.5593-7del)
n.6177-7del
c.5947-7del (n.5947-7del)
c.5941-7del (n.5941-7del)
c.5938-7del (n.5938-7del)
c.5833-7del (n.5833-7del)
c.5830-7del (n.5830-7del)
n.5962-7del
n.5877-7del
n.5948-7del
gnomAD v4
11g.77208423A=CA1984128410MYO7Ac.5857-7A= (n.5857-7A=)
c.3684-7A=
c.5710-7A= (n.5710-7A=)
c.3283-7A= (n.3283-7A=)
c.5743-7A= (n.5743-7A=)
n.3393-7A=
n.771-7A=
c.5740-7A= (n.5740-7A=)
c.5848-7A= (n.5848-7A=)
c.5851-7A= (n.5851-7A=)
c.5824-7A= (n.5824-7A=)
c.5761-7A= (n.5761-7A=)
c.5632-7A= (n.5632-7A=)
c.5620-7A= (n.5620-7A=)
c.5593-7A= (n.5593-7A=)
n.6177-7A=
c.5947-7A= (n.5947-7A=)
c.5941-7A= (n.5941-7A=)
c.5938-7A= (n.5938-7A=)
c.5833-7A= (n.5833-7A=)
c.5830-7A= (n.5830-7A=)
n.5962-7A=
n.5877-7A=
n.5948-7A=
11g.77208423A>CCA645584044MYO7Ac.5857-7A>C (n.5857-7A>C)
c.3684-7A>C
c.5710-7A>C (n.5710-7A>C)
c.3283-7A>C (n.3283-7A>C)
c.5743-7A>C (n.5743-7A>C)
n.3393-7A>C
n.771-7A>C
c.5740-7A>C (n.5740-7A>C)
c.5848-7A>C (n.5848-7A>C)
c.5851-7A>C (n.5851-7A>C)
c.5824-7A>C (n.5824-7A>C)
c.5761-7A>C (n.5761-7A>C)
c.5632-7A>C (n.5632-7A>C)
c.5620-7A>C (n.5620-7A>C)
c.5593-7A>C (n.5593-7A>C)
n.6177-7A>C
c.5947-7A>C (n.5947-7A>C)
c.5941-7A>C (n.5941-7A>C)
c.5938-7A>C (n.5938-7A>C)
c.5833-7A>C (n.5833-7A>C)
c.5830-7A>C (n.5830-7A>C)
n.5962-7A>C
n.5877-7A>C
n.5948-7A>C
ClinVar dbSNP COSMIC
11g.77208423A>GCA2581032923MYO7Ac.5857-7A>G (n.5857-7A>G)
c.3684-7A>G
c.5710-7A>G (n.5710-7A>G)
c.3283-7A>G (n.3283-7A>G)
c.5743-7A>G (n.5743-7A>G)
n.3393-7A>G
n.771-7A>G
c.5740-7A>G (n.5740-7A>G)
c.5848-7A>G (n.5848-7A>G)
c.5851-7A>G (n.5851-7A>G)
c.5824-7A>G (n.5824-7A>G)
c.5761-7A>G (n.5761-7A>G)
c.5632-7A>G (n.5632-7A>G)
c.5620-7A>G (n.5620-7A>G)
c.5593-7A>G (n.5593-7A>G)
n.6177-7A>G
c.5947-7A>G (n.5947-7A>G)
c.5941-7A>G (n.5941-7A>G)
c.5938-7A>G (n.5938-7A>G)
c.5833-7A>G (n.5833-7A>G)
c.5830-7A>G (n.5830-7A>G)
n.5962-7A>G
n.5877-7A>G
n.5948-7A>G
11g.77208423A>TCA132404MYO7Ac.5857-7A>T (n.5857-7A>T)
c.3684-7A>T
c.5710-7A>T (n.5710-7A>T)
c.3283-7A>T (n.3283-7A>T)
c.5743-7A>T (n.5743-7A>T)
n.3393-7A>T
n.771-7A>T
c.5740-7A>T (n.5740-7A>T)
c.5848-7A>T (n.5848-7A>T)
c.5851-7A>T (n.5851-7A>T)
c.5824-7A>T (n.5824-7A>T)
c.5761-7A>T (n.5761-7A>T)
c.5632-7A>T (n.5632-7A>T)
c.5620-7A>T (n.5620-7A>T)
c.5593-7A>T (n.5593-7A>T)
n.6177-7A>T
c.5947-7A>T (n.5947-7A>T)
c.5941-7A>T (n.5941-7A>T)
c.5938-7A>T (n.5938-7A>T)
c.5833-7A>T (n.5833-7A>T)
c.5830-7A>T (n.5830-7A>T)
n.5962-7A>T
n.5877-7A>T
n.5948-7A>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77208423_77208424delinsTTCA2499221341MYO7Ac.5857-7_5857-6delinsTT (n.5857-7_5857-6delinsTT)
c.3684-7_3684-6delinsTT
c.5710-7_5710-6delinsTT (n.5710-7_5710-6delinsTT)
c.3283-7_3283-6delinsTT (n.3283-7_3283-6delinsTT)
c.5743-7_5743-6delinsTT (n.5743-7_5743-6delinsTT)
n.3393-7_3393-6delinsTT
n.771-7_771-6delinsTT
c.5740-7_5740-6delinsTT (n.5740-7_5740-6delinsTT)
c.5848-7_5848-6delinsTT (n.5848-7_5848-6delinsTT)
c.5851-7_5851-6delinsTT (n.5851-7_5851-6delinsTT)
c.5824-7_5824-6delinsTT (n.5824-7_5824-6delinsTT)
c.5761-7_5761-6delinsTT (n.5761-7_5761-6delinsTT)
c.5632-7_5632-6delinsTT (n.5632-7_5632-6delinsTT)
c.5620-7_5620-6delinsTT (n.5620-7_5620-6delinsTT)
c.5593-7_5593-6delinsTT (n.5593-7_5593-6delinsTT)
n.6177-7_6177-6delinsTT
c.5947-7_5947-6delinsTT (n.5947-7_5947-6delinsTT)
c.5941-7_5941-6delinsTT (n.5941-7_5941-6delinsTT)
c.5938-7_5938-6delinsTT (n.5938-7_5938-6delinsTT)
c.5833-7_5833-6delinsTT (n.5833-7_5833-6delinsTT)
c.5830-7_5830-6delinsTT (n.5830-7_5830-6delinsTT)
n.5962-7_5962-6delinsTT
n.5877-7_5877-6delinsTT
n.5948-7_5948-6delinsTT
ClinVar dbSNP
11g.77208423_77208424insGGTCATCAGCTTCGATGGCCCTGTCA600710875MYO7Ac.5857-7_5857-6insGGTCATCAGCTTCGATGGCCCTGT (n.5857-7_5857-6insGGTCATCAGCTTCGATGGCCCTGT)
c.3684-7_3684-6insGGTCATCAGCTTCGATGGCCCTGT
c.5710-7_5710-6insGGTCATCAGCTTCGATGGCCCTGT (n.5710-7_5710-6insGGTCATCAGCTTCGATGGCCCTGT)
c.3283-7_3283-6insGGTCATCAGCTTCGATGGCCCTGT (n.3283-7_3283-6insGGTCATCAGCTTCGATGGCCCTGT)
c.5743-7_5743-6insGGTCATCAGCTTCGATGGCCCTGT (n.5743-7_5743-6insGGTCATCAGCTTCGATGGCCCTGT)
n.3393-7_3393-6insGGTCATCAGCTTCGATGGCCCTGT
n.771-7_771-6insGGTCATCAGCTTCGATGGCCCTGT
c.5740-7_5740-6insGGTCATCAGCTTCGATGGCCCTGT (n.5740-7_5740-6insGGTCATCAGCTTCGATGGCCCTGT)
c.5848-7_5848-6insGGTCATCAGCTTCGATGGCCCTGT (n.5848-7_5848-6insGGTCATCAGCTTCGATGGCCCTGT)
c.5851-7_5851-6insGGTCATCAGCTTCGATGGCCCTGT (n.5851-7_5851-6insGGTCATCAGCTTCGATGGCCCTGT)
c.5824-7_5824-6insGGTCATCAGCTTCGATGGCCCTGT (n.5824-7_5824-6insGGTCATCAGCTTCGATGGCCCTGT)
c.5761-7_5761-6insGGTCATCAGCTTCGATGGCCCTGT (n.5761-7_5761-6insGGTCATCAGCTTCGATGGCCCTGT)
c.5632-7_5632-6insGGTCATCAGCTTCGATGGCCCTGT (n.5632-7_5632-6insGGTCATCAGCTTCGATGGCCCTGT)
c.5620-7_5620-6insGGTCATCAGCTTCGATGGCCCTGT (n.5620-7_5620-6insGGTCATCAGCTTCGATGGCCCTGT)
c.5593-7_5593-6insGGTCATCAGCTTCGATGGCCCTGT (n.5593-7_5593-6insGGTCATCAGCTTCGATGGCCCTGT)
n.6177-7_6177-6insGGTCATCAGCTTCGATGGCCCTGT
c.5947-7_5947-6insGGTCATCAGCTTCGATGGCCCTGT (n.5947-7_5947-6insGGTCATCAGCTTCGATGGCCCTGT)
c.5941-7_5941-6insGGTCATCAGCTTCGATGGCCCTGT (n.5941-7_5941-6insGGTCATCAGCTTCGATGGCCCTGT)
c.5938-7_5938-6insGGTCATCAGCTTCGATGGCCCTGT (n.5938-7_5938-6insGGTCATCAGCTTCGATGGCCCTGT)
c.5833-7_5833-6insGGTCATCAGCTTCGATGGCCCTGT (n.5833-7_5833-6insGGTCATCAGCTTCGATGGCCCTGT)
c.5830-7_5830-6insGGTCATCAGCTTCGATGGCCCTGT (n.5830-7_5830-6insGGTCATCAGCTTCGATGGCCCTGT)
n.5962-7_5962-6insGGTCATCAGCTTCGATGGCCCTGT
n.5877-7_5877-6insGGTCATCAGCTTCGATGGCCCTGT
n.5948-7_5948-6insGGTCATCAGCTTCGATGGCCCTGT
dbSNP gnomAD v2 gnomAD v4
11g.77208424C>ACA2615255202MYO7Ac.5857-6C>A (n.5857-6C>A)
c.3684-6C>A
c.5710-6C>A (n.5710-6C>A)
c.3283-6C>A (n.3283-6C>A)
c.5743-6C>A (n.5743-6C>A)
n.3393-6C>A
n.771-6C>A
c.5740-6C>A (n.5740-6C>A)
c.5848-6C>A (n.5848-6C>A)
c.5851-6C>A (n.5851-6C>A)
c.5824-6C>A (n.5824-6C>A)
c.5761-6C>A (n.5761-6C>A)
c.5632-6C>A (n.5632-6C>A)
c.5620-6C>A (n.5620-6C>A)
c.5593-6C>A (n.5593-6C>A)
n.6177-6C>A
c.5947-6C>A (n.5947-6C>A)
c.5941-6C>A (n.5941-6C>A)
c.5938-6C>A (n.5938-6C>A)
c.5833-6C>A (n.5833-6C>A)
c.5830-6C>A (n.5830-6C>A)
n.5962-6C>A
n.5877-6C>A
n.5948-6C>A
gnomAD v4
11g.77208424C=CA1984128411MYO7Ac.5857-6C= (n.5857-6C=)
c.3684-6C=
c.5710-6C= (n.5710-6C=)
c.3283-6C= (n.3283-6C=)
c.5743-6C= (n.5743-6C=)
n.3393-6C=
n.771-6C=
c.5740-6C= (n.5740-6C=)
c.5848-6C= (n.5848-6C=)
c.5851-6C= (n.5851-6C=)
c.5824-6C= (n.5824-6C=)
c.5761-6C= (n.5761-6C=)
c.5632-6C= (n.5632-6C=)
c.5620-6C= (n.5620-6C=)
c.5593-6C= (n.5593-6C=)
n.6177-6C=
c.5947-6C= (n.5947-6C=)
c.5941-6C= (n.5941-6C=)
c.5938-6C= (n.5938-6C=)
c.5833-6C= (n.5833-6C=)
c.5830-6C= (n.5830-6C=)
n.5962-6C=
n.5877-6C=
n.5948-6C=
11g.77208424C>TCA6198857MYO7Ac.5857-6C>T (n.5857-6C>T)
c.3684-6C>T
c.5710-6C>T (n.5710-6C>T)
c.3283-6C>T (n.3283-6C>T)
c.5743-6C>T (n.5743-6C>T)
n.3393-6C>T
n.771-6C>T
c.5740-6C>T (n.5740-6C>T)
c.5848-6C>T (n.5848-6C>T)
c.5851-6C>T (n.5851-6C>T)
c.5824-6C>T (n.5824-6C>T)
c.5761-6C>T (n.5761-6C>T)
c.5632-6C>T (n.5632-6C>T)
c.5620-6C>T (n.5620-6C>T)
c.5593-6C>T (n.5593-6C>T)
n.6177-6C>T
c.5947-6C>T (n.5947-6C>T)
c.5941-6C>T (n.5941-6C>T)
c.5938-6C>T (n.5938-6C>T)
c.5833-6C>T (n.5833-6C>T)
c.5830-6C>T (n.5830-6C>T)
n.5962-6C>T
n.5877-6C>T
n.5948-6C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77208425C=CA1984128412MYO7Ac.5857-5C= (n.5857-5C=)
c.3684-5C=
c.5710-5C= (n.5710-5C=)
c.3283-5C= (n.3283-5C=)
c.5743-5C= (n.5743-5C=)
n.3393-5C=
n.771-5C=
c.5740-5C= (n.5740-5C=)
c.5848-5C= (n.5848-5C=)
c.5851-5C= (n.5851-5C=)
c.5824-5C= (n.5824-5C=)
c.5761-5C= (n.5761-5C=)
c.5632-5C= (n.5632-5C=)
c.5620-5C= (n.5620-5C=)
c.5593-5C= (n.5593-5C=)
n.6177-5C=
c.5947-5C= (n.5947-5C=)
c.5941-5C= (n.5941-5C=)
c.5938-5C= (n.5938-5C=)
c.5833-5C= (n.5833-5C=)
c.5830-5C= (n.5830-5C=)
n.5962-5C=
n.5877-5C=
n.5948-5C=
11g.77208425C>GCA6198858MYO7Ac.5857-5C>G (n.5857-5C>G)
c.3684-5C>G
c.5710-5C>G (n.5710-5C>G)
c.3283-5C>G (n.3283-5C>G)
c.5743-5C>G (n.5743-5C>G)
n.3393-5C>G
n.771-5C>G
c.5740-5C>G (n.5740-5C>G)
c.5848-5C>G (n.5848-5C>G)
c.5851-5C>G (n.5851-5C>G)
c.5824-5C>G (n.5824-5C>G)
c.5761-5C>G (n.5761-5C>G)
c.5632-5C>G (n.5632-5C>G)
c.5620-5C>G (n.5620-5C>G)
c.5593-5C>G (n.5593-5C>G)
n.6177-5C>G
c.5947-5C>G (n.5947-5C>G)
c.5941-5C>G (n.5941-5C>G)
c.5938-5C>G (n.5938-5C>G)
c.5833-5C>G (n.5833-5C>G)
c.5830-5C>G (n.5830-5C>G)
n.5962-5C>G
n.5877-5C>G
n.5948-5C>G
dbSNP ExAC gnomAD v2 gnomAD v4
11g.77208426C>TCA2615255224MYO7Ac.5857-4C>T (n.5857-4C>T)
c.3684-4C>T
c.5710-4C>T (n.5710-4C>T)
c.3283-4C>T (n.3283-4C>T)
c.5743-4C>T (n.5743-4C>T)
n.3393-4C>T
n.771-4C>T
c.5740-4C>T (n.5740-4C>T)
c.5848-4C>T (n.5848-4C>T)
c.5851-4C>T (n.5851-4C>T)
c.5824-4C>T (n.5824-4C>T)
c.5761-4C>T (n.5761-4C>T)
c.5632-4C>T (n.5632-4C>T)
c.5620-4C>T (n.5620-4C>T)
c.5593-4C>T (n.5593-4C>T)
n.6177-4C>T
c.5947-4C>T (n.5947-4C>T)
c.5941-4C>T (n.5941-4C>T)
c.5938-4C>T (n.5938-4C>T)
c.5833-4C>T (n.5833-4C>T)
c.5830-4C>T (n.5830-4C>T)
n.5962-4C>T
n.5877-4C>T
n.5948-4C>T
gnomAD v4
11g.77208427C>ACA185102MYO7Ac.5857-3C>A (n.5857-3C>A)
c.3684-3C>A
c.5710-3C>A (n.5710-3C>A)
c.3283-3C>A (n.3283-3C>A)
c.5743-3C>A (n.5743-3C>A)
n.3393-3C>A
n.771-3C>A
c.5740-3C>A (n.5740-3C>A)
c.5848-3C>A (n.5848-3C>A)
c.5851-3C>A (n.5851-3C>A)
c.5824-3C>A (n.5824-3C>A)
c.5761-3C>A (n.5761-3C>A)
c.5632-3C>A (n.5632-3C>A)
c.5620-3C>A (n.5620-3C>A)
c.5593-3C>A (n.5593-3C>A)
n.6177-3C>A
c.5947-3C>A (n.5947-3C>A)
c.5941-3C>A (n.5941-3C>A)
c.5938-3C>A (n.5938-3C>A)
c.5833-3C>A (n.5833-3C>A)
c.5830-3C>A (n.5830-3C>A)
n.5962-3C>A
n.5877-3C>A
n.5948-3C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77208427C=CA1984128413MYO7Ac.5857-3C= (n.5857-3C=)
c.3684-3C=
c.5710-3C= (n.5710-3C=)
c.3283-3C= (n.3283-3C=)
c.5743-3C= (n.5743-3C=)
n.3393-3C=
n.771-3C=
c.5740-3C= (n.5740-3C=)
c.5848-3C= (n.5848-3C=)
c.5851-3C= (n.5851-3C=)
c.5824-3C= (n.5824-3C=)
c.5761-3C= (n.5761-3C=)
c.5632-3C= (n.5632-3C=)
c.5620-3C= (n.5620-3C=)
c.5593-3C= (n.5593-3C=)
n.6177-3C=
c.5947-3C= (n.5947-3C=)
c.5941-3C= (n.5941-3C=)
c.5938-3C= (n.5938-3C=)
c.5833-3C= (n.5833-3C=)
c.5830-3C= (n.5830-3C=)
n.5962-3C=
n.5877-3C=
n.5948-3C=
11g.77208427C>TCA2580084982MYO7Ac.5857-3C>T (n.5857-3C>T)
c.3684-3C>T
c.5710-3C>T (n.5710-3C>T)
c.3283-3C>T (n.3283-3C>T)
c.5743-3C>T (n.5743-3C>T)
n.3393-3C>T
n.771-3C>T
c.5740-3C>T (n.5740-3C>T)
c.5848-3C>T (n.5848-3C>T)
c.5851-3C>T (n.5851-3C>T)
c.5824-3C>T (n.5824-3C>T)
c.5761-3C>T (n.5761-3C>T)
c.5632-3C>T (n.5632-3C>T)
c.5620-3C>T (n.5620-3C>T)
c.5593-3C>T (n.5593-3C>T)
n.6177-3C>T
c.5947-3C>T (n.5947-3C>T)
c.5941-3C>T (n.5941-3C>T)
c.5938-3C>T (n.5938-3C>T)
c.5833-3C>T (n.5833-3C>T)
c.5830-3C>T (n.5830-3C>T)
n.5962-3C>T
n.5877-3C>T
n.5948-3C>T
ClinVar gnomAD v4
11g.77208428A=CA1984128414MYO7Ac.5857-2A= (n.5857-2A=)
c.3684-2A=
c.5710-2A= (n.5710-2A=)
c.3283-2A= (n.3283-2A=)
c.5743-2A= (n.5743-2A=)
n.3393-2A=
n.771-2A=
c.5740-2A= (n.5740-2A=)
c.5848-2A= (n.5848-2A=)
c.5851-2A= (n.5851-2A=)
c.5824-2A= (n.5824-2A=)
c.5761-2A= (n.5761-2A=)
c.5632-2A= (n.5632-2A=)
c.5620-2A= (n.5620-2A=)
c.5593-2A= (n.5593-2A=)
n.6177-2A=
c.5947-2A= (n.5947-2A=)
c.5941-2A= (n.5941-2A=)
c.5938-2A= (n.5938-2A=)
c.5833-2A= (n.5833-2A=)
c.5830-2A= (n.5830-2A=)
n.5962-2A=
n.5877-2A=
n.5948-2A=
11g.77208428A>CCA381932453MYO7Ac.5857-2A>C (n.5857-2A>C)
c.3684-2A>C
c.5710-2A>C (n.5710-2A>C)
c.3283-2A>C (n.3283-2A>C)
c.5743-2A>C (n.5743-2A>C)
n.3393-2A>C
n.771-2A>C
c.5740-2A>C (n.5740-2A>C)
c.5848-2A>C (n.5848-2A>C)
c.5851-2A>C (n.5851-2A>C)
c.5824-2A>C (n.5824-2A>C)
c.5761-2A>C (n.5761-2A>C)
c.5632-2A>C (n.5632-2A>C)
c.5620-2A>C (n.5620-2A>C)
c.5593-2A>C (n.5593-2A>C)
n.6177-2A>C
c.5947-2A>C (n.5947-2A>C)
c.5941-2A>C (n.5941-2A>C)
c.5938-2A>C (n.5938-2A>C)
c.5833-2A>C (n.5833-2A>C)
c.5830-2A>C (n.5830-2A>C)
n.5962-2A>C
n.5877-2A>C
n.5948-2A>C
11g.77208428A>GCA381932457MYO7Ac.5857-2A>G (n.5857-2A>G)
c.3684-2A>G
c.5710-2A>G (n.5710-2A>G)
c.3283-2A>G (n.3283-2A>G)
c.5743-2A>G (n.5743-2A>G)
n.3393-2A>G
n.771-2A>G
c.5740-2A>G (n.5740-2A>G)
c.5848-2A>G (n.5848-2A>G)
c.5851-2A>G (n.5851-2A>G)
c.5824-2A>G (n.5824-2A>G)
c.5761-2A>G (n.5761-2A>G)
c.5632-2A>G (n.5632-2A>G)
c.5620-2A>G (n.5620-2A>G)
c.5593-2A>G (n.5593-2A>G)
n.6177-2A>G
c.5947-2A>G (n.5947-2A>G)
c.5941-2A>G (n.5941-2A>G)
c.5938-2A>G (n.5938-2A>G)
c.5833-2A>G (n.5833-2A>G)
c.5830-2A>G (n.5830-2A>G)
n.5962-2A>G
n.5877-2A>G
n.5948-2A>G
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77208428A>TCA381932455MYO7Ac.5857-2A>T (n.5857-2A>T)
c.3684-2A>T
c.5710-2A>T (n.5710-2A>T)
c.3283-2A>T (n.3283-2A>T)
c.5743-2A>T (n.5743-2A>T)
n.3393-2A>T
n.771-2A>T
c.5740-2A>T (n.5740-2A>T)
c.5848-2A>T (n.5848-2A>T)
c.5851-2A>T (n.5851-2A>T)
c.5824-2A>T (n.5824-2A>T)
c.5761-2A>T (n.5761-2A>T)
c.5632-2A>T (n.5632-2A>T)
c.5620-2A>T (n.5620-2A>T)
c.5593-2A>T (n.5593-2A>T)
n.6177-2A>T
c.5947-2A>T (n.5947-2A>T)
c.5941-2A>T (n.5941-2A>T)
c.5938-2A>T (n.5938-2A>T)
c.5833-2A>T (n.5833-2A>T)
c.5830-2A>T (n.5830-2A>T)
n.5962-2A>T
n.5877-2A>T
n.5948-2A>T
gnomAD v4
11g.77208429G>ACA381932460MYO7Ac.5857-1G>A (n.5857-1G>A)
c.3684-1G>A
c.5710-1G>A (n.5710-1G>A)
c.3283-1G>A (n.3283-1G>A)
c.5743-1G>A (n.5743-1G>A)
n.3393-1G>A
n.771-1G>A
c.5740-1G>A (n.5740-1G>A)
c.5848-1G>A (n.5848-1G>A)
c.5851-1G>A (n.5851-1G>A)
c.5824-1G>A (n.5824-1G>A)
c.5761-1G>A (n.5761-1G>A)
c.5632-1G>A (n.5632-1G>A)
c.5620-1G>A (n.5620-1G>A)
c.5593-1G>A (n.5593-1G>A)
n.6177-1G>A
c.5947-1G>A (n.5947-1G>A)
c.5941-1G>A (n.5941-1G>A)
c.5938-1G>A (n.5938-1G>A)
c.5833-1G>A (n.5833-1G>A)
c.5830-1G>A (n.5830-1G>A)
n.5962-1G>A
n.5877-1G>A
n.5948-1G>A
gnomAD v4
11g.77208429G>CCA381932462MYO7Ac.5857-1G>C (n.5857-1G>C)
c.3684-1G>C
c.5710-1G>C (n.5710-1G>C)
c.3283-1G>C (n.3283-1G>C)
c.5743-1G>C (n.5743-1G>C)
n.3393-1G>C
n.771-1G>C
c.5740-1G>C (n.5740-1G>C)
c.5848-1G>C (n.5848-1G>C)
c.5851-1G>C (n.5851-1G>C)
c.5824-1G>C (n.5824-1G>C)
c.5761-1G>C (n.5761-1G>C)
c.5632-1G>C (n.5632-1G>C)
c.5620-1G>C (n.5620-1G>C)
c.5593-1G>C (n.5593-1G>C)
n.6177-1G>C
c.5947-1G>C (n.5947-1G>C)
c.5941-1G>C (n.5941-1G>C)
c.5938-1G>C (n.5938-1G>C)
c.5833-1G>C (n.5833-1G>C)
c.5830-1G>C (n.5830-1G>C)
n.5962-1G>C
n.5877-1G>C
n.5948-1G>C
11g.77208429G>TCA381932464MYO7Ac.5857-1G>T (n.5857-1G>T)
c.3684-1G>T
c.5710-1G>T (n.5710-1G>T)
c.3283-1G>T (n.3283-1G>T)
c.5743-1G>T (n.5743-1G>T)
n.3393-1G>T
n.771-1G>T
c.5740-1G>T (n.5740-1G>T)
c.5848-1G>T (n.5848-1G>T)
c.5851-1G>T (n.5851-1G>T)
c.5824-1G>T (n.5824-1G>T)
c.5761-1G>T (n.5761-1G>T)
c.5632-1G>T (n.5632-1G>T)
c.5620-1G>T (n.5620-1G>T)
c.5593-1G>T (n.5593-1G>T)
n.6177-1G>T
c.5947-1G>T (n.5947-1G>T)
c.5941-1G>T (n.5941-1G>T)
c.5938-1G>T (n.5938-1G>T)
c.5833-1G>T (n.5833-1G>T)
c.5830-1G>T (n.5830-1G>T)
n.5962-1G>T
n.5877-1G>T
n.5948-1G>T
11g.77208429_77208430delinsATCA2499221342MYO7Ac.5857-1_5857delinsAT
c.3684-1_3684delinsAT
c.5710-1_5710delinsAT
c.3283-1_3283delinsAT
c.5743-1_5743delinsAT
n.3393-1_3393delinsAT
n.771-1_771delinsAT
c.5740-1_5740delinsAT
c.5848-1_5848delinsAT
c.5851-1_5851delinsAT
c.5824-1_5824delinsAT
c.5761-1_5761delinsAT
c.5632-1_5632delinsAT
c.5620-1_5620delinsAT
c.5593-1_5593delinsAT
n.6177-1_6177delinsAT
c.5947-1_5947delinsAT
c.5941-1_5941delinsAT
c.5938-1_5938delinsAT
c.5833-1_5833delinsAT
c.5830-1_5830delinsAT
n.5962-1_5962delinsAT
n.5877-1_5877delinsAT
n.5948-1_5948delinsAT
ClinVar dbSNP
11g.77208430G>ACA381932467MYO7Ac.5857G>A (p.Val1953Ile)
c.3684G>A
c.5710G>A (p.Val1904Ile)
c.3283G>A (p.Val1095Ile)
c.5743G>A (p.Val1915Ile)
n.3393G>A
n.771G>A
c.5740G>A (p.Val1914Ile)
c.5848G>A (p.Val1950Ile)
c.5851G>A (p.Val1951Ile)
c.5824G>A (p.Val1942Ile)
c.5761G>A (p.Val1921Ile)
c.5632G>A (p.Val1878Ile)
c.5620G>A (p.Val1874Ile)
c.5593G>A (p.Val1865Ile)
n.6177G>A
c.5947G>A (p.Val1983Ile)
c.5941G>A (p.Val1981Ile)
c.5938G>A (p.Val1980Ile)
c.5833G>A (p.Val1945Ile)
c.5830G>A (p.Val1944Ile)
n.5962G>A
n.5877G>A
n.5948G>A
dbSNP gnomAD v2 gnomAD v4
11g.77208430G>CCA381932469MYO7Ac.5857G>C (p.Val1953Leu)
c.3684G>C
c.5710G>C (p.Val1904Leu)
c.3283G>C (p.Val1095Leu)
c.5743G>C (p.Val1915Leu)
n.3393G>C
n.771G>C
c.5740G>C (p.Val1914Leu)
c.5848G>C (p.Val1950Leu)
c.5851G>C (p.Val1951Leu)
c.5824G>C (p.Val1942Leu)
c.5761G>C (p.Val1921Leu)
c.5632G>C (p.Val1878Leu)
c.5620G>C (p.Val1874Leu)
c.5593G>C (p.Val1865Leu)
n.6177G>C
c.5947G>C (p.Val1983Leu)
c.5941G>C (p.Val1981Leu)
c.5938G>C (p.Val1980Leu)
c.5833G>C (p.Val1945Leu)
c.5830G>C (p.Val1944Leu)
n.5962G>C
n.5877G>C
n.5948G>C
11g.77208430G=CA1984128415MYO7Ac.5857G= (p.Val1953=)
c.3684G=
c.5710G= (p.Val1904=)
c.3283G= (p.Val1095=)
c.5743G= (p.Val1915=)
n.3393G=
n.771G=
c.5740G= (p.Val1914=)
c.5848G= (p.Val1950=)
c.5851G= (p.Val1951=)
c.5824G= (p.Val1942=)
c.5761G= (p.Val1921=)
c.5632G= (p.Val1878=)
c.5620G= (p.Val1874=)
c.5593G= (p.Val1865=)
n.6177G=
c.5947G= (p.Val1983=)
c.5941G= (p.Val1981=)
c.5938G= (p.Val1980=)
c.5833G= (p.Val1945=)
c.5830G= (p.Val1944=)
n.5962G=
n.5877G=
n.5948G=
11g.77208430G>TCA381932470MYO7Ac.5857G>T (p.Val1953Phe)
c.3684G>T
c.5710G>T (p.Val1904Phe)
c.3283G>T (p.Val1095Phe)
c.5743G>T (p.Val1915Phe)
n.3393G>T
n.771G>T
c.5740G>T (p.Val1914Phe)
c.5848G>T (p.Val1950Phe)
c.5851G>T (p.Val1951Phe)
c.5824G>T (p.Val1942Phe)
c.5761G>T (p.Val1921Phe)
c.5632G>T (p.Val1878Phe)
c.5620G>T (p.Val1874Phe)
c.5593G>T (p.Val1865Phe)
n.6177G>T
c.5947G>T (p.Val1983Phe)
c.5941G>T (p.Val1981Phe)
c.5938G>T (p.Val1980Phe)
c.5833G>T (p.Val1945Phe)
c.5830G>T (p.Val1944Phe)
n.5962G>T
n.5877G>T
n.5948G>T
dbSNP gnomAD v2 gnomAD v4
11g.77208431T>ACA381932478MYO7Ac.5858T>A (p.Val1953Asp)
c.3685T>A
c.5711T>A (p.Val1904Asp)
c.3284T>A (p.Val1095Asp)
c.5744T>A (p.Val1915Asp)
n.3394T>A
n.772T>A
c.5741T>A (p.Val1914Asp)
c.5849T>A (p.Val1950Asp)
c.5852T>A (p.Val1951Asp)
c.5825T>A (p.Val1942Asp)
c.5762T>A (p.Val1921Asp)
c.5633T>A (p.Val1878Asp)
c.5621T>A (p.Val1874Asp)
c.5594T>A (p.Val1865Asp)
n.6178T>A
c.5948T>A (p.Val1983Asp)
c.5942T>A (p.Val1981Asp)
c.5939T>A (p.Val1980Asp)
c.5834T>A (p.Val1945Asp)
c.5831T>A (p.Val1944Asp)
n.5963T>A
n.5878T>A
n.5949T>A
11g.77208431T>CCA381932476MYO7Ac.5858T>C (p.Val1953Ala)
c.3685T>C
c.5711T>C (p.Val1904Ala)
c.3284T>C (p.Val1095Ala)
c.5744T>C (p.Val1915Ala)
n.3394T>C
n.772T>C
c.5741T>C (p.Val1914Ala)
c.5849T>C (p.Val1950Ala)
c.5852T>C (p.Val1951Ala)
c.5825T>C (p.Val1942Ala)
c.5762T>C (p.Val1921Ala)
c.5633T>C (p.Val1878Ala)
c.5621T>C (p.Val1874Ala)
c.5594T>C (p.Val1865Ala)
n.6178T>C
c.5948T>C (p.Val1983Ala)
c.5942T>C (p.Val1981Ala)
c.5939T>C (p.Val1980Ala)
c.5834T>C (p.Val1945Ala)
c.5831T>C (p.Val1944Ala)
n.5963T>C
n.5878T>C
n.5949T>C
11g.77208431T>GCA381932474MYO7Ac.5858T>G (p.Val1953Gly)
c.3685T>G
c.5711T>G (p.Val1904Gly)
c.3284T>G (p.Val1095Gly)
c.5744T>G (p.Val1915Gly)
n.3394T>G
n.772T>G
c.5741T>G (p.Val1914Gly)
c.5849T>G (p.Val1950Gly)
c.5852T>G (p.Val1951Gly)
c.5825T>G (p.Val1942Gly)
c.5762T>G (p.Val1921Gly)
c.5633T>G (p.Val1878Gly)
c.5621T>G (p.Val1874Gly)
c.5594T>G (p.Val1865Gly)
n.6178T>G
c.5948T>G (p.Val1983Gly)
c.5942T>G (p.Val1981Gly)
c.5939T>G (p.Val1980Gly)
c.5834T>G (p.Val1945Gly)
c.5831T>G (p.Val1944Gly)
n.5963T>G
n.5878T>G
n.5949T>G
11g.77208432C>ACA475791557MYO7Ac.5859C>A (p.Val1953=)
c.3686C>A
c.5712C>A (p.Val1904=)
c.3285C>A (p.Val1095=)
c.5745C>A (p.Val1915=)
n.3395C>A
n.773C>A
c.5742C>A (p.Val1914=)
c.5850C>A (p.Val1950=)
c.5853C>A (p.Val1951=)
c.5826C>A (p.Val1942=)
c.5763C>A (p.Val1921=)
c.5634C>A (p.Val1878=)
c.5622C>A (p.Val1874=)
c.5595C>A (p.Val1865=)
n.6179C>A
c.5949C>A (p.Val1983=)
c.5943C>A (p.Val1981=)
c.5940C>A (p.Val1980=)
c.5835C>A (p.Val1945=)
c.5832C>A (p.Val1944=)
n.5964C>A
n.5879C>A
n.5950C>A
gnomAD v4
11g.77208432C>GCA475791558MYO7Ac.5859C>G (p.Val1953=)
c.3686C>G
c.5712C>G (p.Val1904=)
c.3285C>G (p.Val1095=)
c.5745C>G (p.Val1915=)
n.3395C>G
n.773C>G
c.5742C>G (p.Val1914=)
c.5850C>G (p.Val1950=)
c.5853C>G (p.Val1951=)
c.5826C>G (p.Val1942=)
c.5763C>G (p.Val1921=)
c.5634C>G (p.Val1878=)
c.5622C>G (p.Val1874=)
c.5595C>G (p.Val1865=)
n.6179C>G
c.5949C>G (p.Val1983=)
c.5943C>G (p.Val1981=)
c.5940C>G (p.Val1980=)
c.5835C>G (p.Val1945=)
c.5832C>G (p.Val1944=)
n.5964C>G
n.5879C>G
n.5950C>G
11g.77208432C>TCA475791559MYO7Ac.5859C>T (p.Val1953=)
c.3686C>T
c.5712C>T (p.Val1904=)
c.3285C>T (p.Val1095=)
c.5745C>T (p.Val1915=)
n.3395C>T
n.773C>T
c.5742C>T (p.Val1914=)
c.5850C>T (p.Val1950=)
c.5853C>T (p.Val1951=)
c.5826C>T (p.Val1942=)
c.5763C>T (p.Val1921=)
c.5634C>T (p.Val1878=)
c.5622C>T (p.Val1874=)
c.5595C>T (p.Val1865=)
n.6179C>T
c.5949C>T (p.Val1983=)
c.5943C>T (p.Val1981=)
c.5940C>T (p.Val1980=)
c.5835C>T (p.Val1945=)
c.5832C>T (p.Val1944=)
n.5964C>T
n.5879C>T
n.5950C>T
11g.77208433C>ACA132405MYO7Ac.5860C>A (p.Leu1954Ile)
c.3687C>A
c.5713C>A (p.Leu1905Ile)
c.3286C>A (p.Leu1096Ile)
c.5746C>A (p.Leu1916Ile)
n.3396C>A
n.774C>A
c.5743C>A (p.Leu1915Ile)
c.5851C>A (p.Leu1951Ile)
c.5854C>A (p.Leu1952Ile)
c.5827C>A (p.Leu1943Ile)
c.5764C>A (p.Leu1922Ile)
c.5635C>A (p.Leu1879Ile)
c.5623C>A (p.Leu1875Ile)
c.5596C>A (p.Leu1866Ile)
n.6180C>A
c.5950C>A (p.Leu1984Ile)
c.5944C>A (p.Leu1982Ile)
c.5941C>A (p.Leu1981Ile)
c.5836C>A (p.Leu1946Ile)
c.5833C>A (p.Leu1945Ile)
n.5965C>A
n.5880C>A
n.5951C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77208433C=CA1984128416MYO7Ac.5860C= (p.Leu1954=)
c.3687C=
c.5713C= (p.Leu1905=)
c.3286C= (p.Leu1096=)
c.5746C= (p.Leu1916=)
n.3396C=
n.774C=
c.5743C= (p.Leu1915=)
c.5851C= (p.Leu1951=)
c.5854C= (p.Leu1952=)
c.5827C= (p.Leu1943=)
c.5764C= (p.Leu1922=)
c.5635C= (p.Leu1879=)
c.5623C= (p.Leu1875=)
c.5596C= (p.Leu1866=)
n.6180C=
c.5950C= (p.Leu1984=)
c.5944C= (p.Leu1982=)
c.5941C= (p.Leu1981=)
c.5836C= (p.Leu1946=)
c.5833C= (p.Leu1945=)
n.5965C=
n.5880C=
n.5951C=
11g.77208433C>GCA6198859MYO7Ac.5860C>G (p.Leu1954Val)
c.3687C>G
c.5713C>G (p.Leu1905Val)
c.3286C>G (p.Leu1096Val)
c.5746C>G (p.Leu1916Val)
n.3396C>G
n.774C>G
c.5743C>G (p.Leu1915Val)
c.5851C>G (p.Leu1951Val)
c.5854C>G (p.Leu1952Val)
c.5827C>G (p.Leu1943Val)
c.5764C>G (p.Leu1922Val)
c.5635C>G (p.Leu1879Val)
c.5623C>G (p.Leu1875Val)
c.5596C>G (p.Leu1866Val)
n.6180C>G
c.5950C>G (p.Leu1984Val)
c.5944C>G (p.Leu1982Val)
c.5941C>G (p.Leu1981Val)
c.5836C>G (p.Leu1946Val)
c.5833C>G (p.Leu1945Val)
n.5965C>G
n.5880C>G
n.5951C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77208433C>TCA381932484MYO7Ac.5860C>T (p.Leu1954Phe)
c.3687C>T
c.5713C>T (p.Leu1905Phe)
c.3286C>T (p.Leu1096Phe)
c.5746C>T (p.Leu1916Phe)
n.3396C>T
n.774C>T
c.5743C>T (p.Leu1915Phe)
c.5851C>T (p.Leu1951Phe)
c.5854C>T (p.Leu1952Phe)
c.5827C>T (p.Leu1943Phe)
c.5764C>T (p.Leu1922Phe)
c.5635C>T (p.Leu1879Phe)
c.5623C>T (p.Leu1875Phe)
c.5596C>T (p.Leu1866Phe)
n.6180C>T
c.5950C>T (p.Leu1984Phe)
c.5944C>T (p.Leu1982Phe)
c.5941C>T (p.Leu1981Phe)
c.5836C>T (p.Leu1946Phe)
c.5833C>T (p.Leu1945Phe)
n.5965C>T
n.5880C>T
n.5951C>T
dbSNP gnomAD v2 gnomAD v4
11g.77208434T>ACA381932487MYO7Ac.5861T>A (p.Leu1954His)
c.3688T>A
c.5714T>A (p.Leu1905His)
c.3287T>A (p.Leu1096His)
c.5747T>A (p.Leu1916His)
n.3397T>A
n.775T>A
c.5744T>A (p.Leu1915His)
c.5852T>A (p.Leu1951His)
c.5855T>A (p.Leu1952His)
c.5828T>A (p.Leu1943His)
c.5765T>A (p.Leu1922His)
c.5636T>A (p.Leu1879His)
c.5624T>A (p.Leu1875His)
c.5597T>A (p.Leu1866His)
n.6181T>A
c.5951T>A (p.Leu1984His)
c.5945T>A (p.Leu1982His)
c.5942T>A (p.Leu1981His)
c.5837T>A (p.Leu1946His)
c.5834T>A (p.Leu1945His)
n.5966T>A
n.5881T>A
n.5952T>A
11g.77208434T>CCA381932489MYO7Ac.5861T>C (p.Leu1954Pro)
c.3688T>C
c.5714T>C (p.Leu1905Pro)
c.3287T>C (p.Leu1096Pro)
c.5747T>C (p.Leu1916Pro)
n.3397T>C
n.775T>C
c.5744T>C (p.Leu1915Pro)
c.5852T>C (p.Leu1951Pro)
c.5855T>C (p.Leu1952Pro)
c.5828T>C (p.Leu1943Pro)
c.5765T>C (p.Leu1922Pro)
c.5636T>C (p.Leu1879Pro)
c.5624T>C (p.Leu1875Pro)
c.5597T>C (p.Leu1866Pro)
n.6181T>C
c.5951T>C (p.Leu1984Pro)
c.5945T>C (p.Leu1982Pro)
c.5942T>C (p.Leu1981Pro)
c.5837T>C (p.Leu1946Pro)
c.5834T>C (p.Leu1945Pro)
n.5966T>C
n.5881T>C
n.5952T>C
ClinVar
11g.77208434T>GCA381932491MYO7Ac.5861T>G (p.Leu1954Arg)
c.3688T>G
c.5714T>G (p.Leu1905Arg)
c.3287T>G (p.Leu1096Arg)
c.5747T>G (p.Leu1916Arg)
n.3397T>G
n.775T>G
c.5744T>G (p.Leu1915Arg)
c.5852T>G (p.Leu1951Arg)
c.5855T>G (p.Leu1952Arg)
c.5828T>G (p.Leu1943Arg)
c.5765T>G (p.Leu1922Arg)
c.5636T>G (p.Leu1879Arg)
c.5624T>G (p.Leu1875Arg)
c.5597T>G (p.Leu1866Arg)
n.6181T>G
c.5951T>G (p.Leu1984Arg)
c.5945T>G (p.Leu1982Arg)
c.5942T>G (p.Leu1981Arg)
c.5837T>G (p.Leu1946Arg)
c.5834T>G (p.Leu1945Arg)
n.5966T>G
n.5881T>G
n.5952T>G
dbSNP gnomAD v2 gnomAD v4
11g.77208434T=CA1984128417MYO7Ac.5861T= (p.Leu1954=)
c.3688T=
c.5714T= (p.Leu1905=)
c.3287T= (p.Leu1096=)
c.5747T= (p.Leu1916=)
n.3397T=
n.775T=
c.5744T= (p.Leu1915=)
c.5852T= (p.Leu1951=)
c.5855T= (p.Leu1952=)
c.5828T= (p.Leu1943=)
c.5765T= (p.Leu1922=)
c.5636T= (p.Leu1879=)
c.5624T= (p.Leu1875=)
c.5597T= (p.Leu1866=)
n.6181T=
c.5951T= (p.Leu1984=)
c.5945T= (p.Leu1982=)
c.5942T= (p.Leu1981=)
c.5837T= (p.Leu1946=)
c.5834T= (p.Leu1945=)
n.5966T=
n.5881T=
n.5952T=
11g.77208435C>ACA475791562MYO7Ac.5862C>A (p.Leu1954=)
c.3689C>A
c.5715C>A (p.Leu1905=)
c.3288C>A (p.Leu1096=)
c.5748C>A (p.Leu1916=)
n.3398C>A
n.776C>A
c.5745C>A (p.Leu1915=)
c.5853C>A (p.Leu1951=)
c.5856C>A (p.Leu1952=)
c.5829C>A (p.Leu1943=)
c.5766C>A (p.Leu1922=)
c.5637C>A (p.Leu1879=)
c.5625C>A (p.Leu1875=)
c.5598C>A (p.Leu1866=)
n.6182C>A
c.5952C>A (p.Leu1984=)
c.5946C>A (p.Leu1982=)
c.5943C>A (p.Leu1981=)
c.5838C>A (p.Leu1946=)
c.5835C>A (p.Leu1945=)
n.5967C>A
n.5882C>A
n.5953C>A
11g.77208435C>GCA475791563MYO7Ac.5862C>G (p.Leu1954=)
c.3689C>G
c.5715C>G (p.Leu1905=)
c.3288C>G (p.Leu1096=)
c.5748C>G (p.Leu1916=)
n.3398C>G
n.776C>G
c.5745C>G (p.Leu1915=)
c.5853C>G (p.Leu1951=)
c.5856C>G (p.Leu1952=)
c.5829C>G (p.Leu1943=)
c.5766C>G (p.Leu1922=)
c.5637C>G (p.Leu1879=)
c.5625C>G (p.Leu1875=)
c.5598C>G (p.Leu1866=)
n.6182C>G
c.5952C>G (p.Leu1984=)
c.5946C>G (p.Leu1982=)
c.5943C>G (p.Leu1981=)
c.5838C>G (p.Leu1946=)
c.5835C>G (p.Leu1945=)
n.5967C>G
n.5882C>G
n.5953C>G
11g.77208435C>TCA475791564MYO7Ac.5862C>T (p.Leu1954=)
c.3689C>T
c.5715C>T (p.Leu1905=)
c.3288C>T (p.Leu1096=)
c.5748C>T (p.Leu1916=)
n.3398C>T
n.776C>T
c.5745C>T (p.Leu1915=)
c.5853C>T (p.Leu1951=)
c.5856C>T (p.Leu1952=)
c.5829C>T (p.Leu1943=)
c.5766C>T (p.Leu1922=)
c.5637C>T (p.Leu1879=)
c.5625C>T (p.Leu1875=)
c.5598C>T (p.Leu1866=)
n.6182C>T
c.5952C>T (p.Leu1984=)
c.5946C>T (p.Leu1982=)
c.5943C>T (p.Leu1981=)
c.5838C>T (p.Leu1946=)
c.5835C>T (p.Leu1945=)
n.5967C>T
n.5882C>T
n.5953C>T
11g.77208436A=CA1984128418MYO7Ac.5863A= (p.Ser1955=)
c.3690A=
c.5716A= (p.Ser1906=)
c.3289A= (p.Ser1097=)
c.5749A= (p.Ser1917=)
n.3399A=
n.777A=
c.5746A= (p.Ser1916=)
c.5854A= (p.Ser1952=)
c.5857A= (p.Ser1953=)
c.5830A= (p.Ser1944=)
c.5767A= (p.Ser1923=)
c.5638A= (p.Ser1880=)
c.5626A= (p.Ser1876=)
c.5599A= (p.Ser1867=)
n.6183A=
c.5953A= (p.Ser1985=)
c.5947A= (p.Ser1983=)
c.5944A= (p.Ser1982=)
c.5839A= (p.Ser1947=)
c.5836A= (p.Ser1946=)
n.5968A=
n.5883A=
n.5954A=
11g.77208436A>CCA381932494MYO7Ac.5863A>C (p.Ser1955Arg)
c.3690A>C
c.5716A>C (p.Ser1906Arg)
c.3289A>C (p.Ser1097Arg)
c.5749A>C (p.Ser1917Arg)
n.3399A>C
n.777A>C
c.5746A>C (p.Ser1916Arg)
c.5854A>C (p.Ser1952Arg)
c.5857A>C (p.Ser1953Arg)
c.5830A>C (p.Ser1944Arg)
c.5767A>C (p.Ser1923Arg)
c.5638A>C (p.Ser1880Arg)
c.5626A>C (p.Ser1876Arg)
c.5599A>C (p.Ser1867Arg)
n.6183A>C
c.5953A>C (p.Ser1985Arg)
c.5947A>C (p.Ser1983Arg)
c.5944A>C (p.Ser1982Arg)
c.5839A>C (p.Ser1947Arg)
c.5836A>C (p.Ser1946Arg)
n.5968A>C
n.5883A>C
n.5954A>C
11g.77208436A>GCA381932499MYO7Ac.5863A>G (p.Ser1955Gly)
c.3690A>G
c.5716A>G (p.Ser1906Gly)
c.3289A>G (p.Ser1097Gly)
c.5749A>G (p.Ser1917Gly)
n.3399A>G
n.777A>G
c.5746A>G (p.Ser1916Gly)
c.5854A>G (p.Ser1952Gly)
c.5857A>G (p.Ser1953Gly)
c.5830A>G (p.Ser1944Gly)
c.5767A>G (p.Ser1923Gly)
c.5638A>G (p.Ser1880Gly)
c.5626A>G (p.Ser1876Gly)
c.5599A>G (p.Ser1867Gly)
n.6183A>G
c.5953A>G (p.Ser1985Gly)
c.5947A>G (p.Ser1983Gly)
c.5944A>G (p.Ser1982Gly)
c.5839A>G (p.Ser1947Gly)
c.5836A>G (p.Ser1946Gly)
n.5968A>G
n.5883A>G
n.5954A>G
dbSNP gnomAD v4
11g.77208436A>TCA381932497MYO7Ac.5863A>T (p.Ser1955Cys)
c.3690A>T
c.5716A>T (p.Ser1906Cys)
c.3289A>T (p.Ser1097Cys)
c.5749A>T (p.Ser1917Cys)
n.3399A>T
n.777A>T
c.5746A>T (p.Ser1916Cys)
c.5854A>T (p.Ser1952Cys)
c.5857A>T (p.Ser1953Cys)
c.5830A>T (p.Ser1944Cys)
c.5767A>T (p.Ser1923Cys)
c.5638A>T (p.Ser1880Cys)
c.5626A>T (p.Ser1876Cys)
c.5599A>T (p.Ser1867Cys)
n.6183A>T
c.5953A>T (p.Ser1985Cys)
c.5947A>T (p.Ser1983Cys)
c.5944A>T (p.Ser1982Cys)
c.5839A>T (p.Ser1947Cys)
c.5836A>T (p.Ser1946Cys)
n.5968A>T
n.5883A>T
n.5954A>T
11g.77208437G>ACA381932502MYO7Ac.5864G>A (p.Ser1955Asn)
c.3691G>A
c.5717G>A (p.Ser1906Asn)
c.3290G>A (p.Ser1097Asn)
c.5750G>A (p.Ser1917Asn)
n.3400G>A
n.778G>A
c.5747G>A (p.Ser1916Asn)
c.5855G>A (p.Ser1952Asn)
c.5858G>A (p.Ser1953Asn)
c.5831G>A (p.Ser1944Asn)
c.5768G>A (p.Ser1923Asn)
c.5639G>A (p.Ser1880Asn)
c.5627G>A (p.Ser1876Asn)
c.5600G>A (p.Ser1867Asn)
n.6184G>A
c.5954G>A (p.Ser1985Asn)
c.5948G>A (p.Ser1983Asn)
c.5945G>A (p.Ser1982Asn)
c.5840G>A (p.Ser1947Asn)
c.5837G>A (p.Ser1946Asn)
n.5969G>A
n.5884G>A
n.5955G>A
gnomAD v4
11g.77208437G>CCA381932504MYO7Ac.5864G>C (p.Ser1955Thr)
c.3691G>C
c.5717G>C (p.Ser1906Thr)
c.3290G>C (p.Ser1097Thr)
c.5750G>C (p.Ser1917Thr)
n.3400G>C
n.778G>C
c.5747G>C (p.Ser1916Thr)
c.5855G>C (p.Ser1952Thr)
c.5858G>C (p.Ser1953Thr)
c.5831G>C (p.Ser1944Thr)
c.5768G>C (p.Ser1923Thr)
c.5639G>C (p.Ser1880Thr)
c.5627G>C (p.Ser1876Thr)
c.5600G>C (p.Ser1867Thr)
n.6184G>C
c.5954G>C (p.Ser1985Thr)
c.5948G>C (p.Ser1983Thr)
c.5945G>C (p.Ser1982Thr)
c.5840G>C (p.Ser1947Thr)
c.5837G>C (p.Ser1946Thr)
n.5969G>C
n.5884G>C
n.5955G>C
11g.77208437G=CA1984128419MYO7Ac.5864G= (p.Ser1955=)
c.3691G=
c.5717G= (p.Ser1906=)
c.3290G= (p.Ser1097=)
c.5750G= (p.Ser1917=)
n.3400G=
n.778G=
c.5747G= (p.Ser1916=)
c.5855G= (p.Ser1952=)
c.5858G= (p.Ser1953=)
c.5831G= (p.Ser1944=)
c.5768G= (p.Ser1923=)
c.5639G= (p.Ser1880=)
c.5627G= (p.Ser1876=)
c.5600G= (p.Ser1867=)
n.6184G=
c.5954G= (p.Ser1985=)
c.5948G= (p.Ser1983=)
c.5945G= (p.Ser1982=)
c.5840G= (p.Ser1947=)
c.5837G= (p.Ser1946=)
n.5969G=
n.5884G=
n.5955G=
11g.77208437G>TCA381932506MYO7Ac.5864G>T (p.Ser1955Ile)
c.3691G>T
c.5717G>T (p.Ser1906Ile)
c.3290G>T (p.Ser1097Ile)
c.5750G>T (p.Ser1917Ile)
n.3400G>T
n.778G>T
c.5747G>T (p.Ser1916Ile)
c.5855G>T (p.Ser1952Ile)
c.5858G>T (p.Ser1953Ile)
c.5831G>T (p.Ser1944Ile)
c.5768G>T (p.Ser1923Ile)
c.5639G>T (p.Ser1880Ile)
c.5627G>T (p.Ser1876Ile)
c.5600G>T (p.Ser1867Ile)
n.6184G>T
c.5954G>T (p.Ser1985Ile)
c.5948G>T (p.Ser1983Ile)
c.5945G>T (p.Ser1982Ile)
c.5840G>T (p.Ser1947Ile)
c.5837G>T (p.Ser1946Ile)
n.5969G>T
n.5884G>T
n.5955G>T
dbSNP gnomAD v2
11g.77208438C>ACA381932509MYO7Ac.5865C>A (p.Ser1955Arg)
c.3692C>A
c.5718C>A (p.Ser1906Arg)
c.3291C>A (p.Ser1097Arg)
c.5751C>A (p.Ser1917Arg)
n.3401C>A
n.779C>A
c.5748C>A (p.Ser1916Arg)
c.5856C>A (p.Ser1952Arg)
c.5859C>A (p.Ser1953Arg)
c.5832C>A (p.Ser1944Arg)
c.5769C>A (p.Ser1923Arg)
c.5640C>A (p.Ser1880Arg)
c.5628C>A (p.Ser1876Arg)
c.5601C>A (p.Ser1867Arg)
n.6185C>A
c.5955C>A (p.Ser1985Arg)
c.5949C>A (p.Ser1983Arg)
c.5946C>A (p.Ser1982Arg)
c.5841C>A (p.Ser1947Arg)
c.5838C>A (p.Ser1946Arg)
n.5970C>A
n.5885C>A
n.5956C>A
gnomAD v4
11g.77208438C=CA1984128420MYO7Ac.5865C= (p.Ser1955=)
c.3692C=
c.5718C= (p.Ser1906=)
c.3291C= (p.Ser1097=)
c.5751C= (p.Ser1917=)
n.3401C=
n.779C=
c.5748C= (p.Ser1916=)
c.5856C= (p.Ser1952=)
c.5859C= (p.Ser1953=)
c.5832C= (p.Ser1944=)
c.5769C= (p.Ser1923=)
c.5640C= (p.Ser1880=)
c.5628C= (p.Ser1876=)
c.5601C= (p.Ser1867=)
n.6185C=
c.5955C= (p.Ser1985=)
c.5949C= (p.Ser1983=)
c.5946C= (p.Ser1982=)
c.5841C= (p.Ser1947=)
c.5838C= (p.Ser1946=)
n.5970C=
n.5885C=
n.5956C=
11g.77208438C>GCA381932511MYO7Ac.5865C>G (p.Ser1955Arg)
c.3692C>G
c.5718C>G (p.Ser1906Arg)
c.3291C>G (p.Ser1097Arg)
c.5751C>G (p.Ser1917Arg)
n.3401C>G
n.779C>G
c.5748C>G (p.Ser1916Arg)
c.5856C>G (p.Ser1952Arg)
c.5859C>G (p.Ser1953Arg)
c.5832C>G (p.Ser1944Arg)
c.5769C>G (p.Ser1923Arg)
c.5640C>G (p.Ser1880Arg)
c.5628C>G (p.Ser1876Arg)
c.5601C>G (p.Ser1867Arg)
n.6185C>G
c.5955C>G (p.Ser1985Arg)
c.5949C>G (p.Ser1983Arg)
c.5946C>G (p.Ser1982Arg)
c.5841C>G (p.Ser1947Arg)
c.5838C>G (p.Ser1946Arg)
n.5970C>G
n.5885C>G
n.5956C>G
11g.77208438C>TCA475791568MYO7Ac.5865C>T (p.Ser1955=)
c.3692C>T
c.5718C>T (p.Ser1906=)
c.3291C>T (p.Ser1097=)
c.5751C>T (p.Ser1917=)
n.3401C>T
n.779C>T
c.5748C>T (p.Ser1916=)
c.5856C>T (p.Ser1952=)
c.5859C>T (p.Ser1953=)
c.5832C>T (p.Ser1944=)
c.5769C>T (p.Ser1923=)
c.5640C>T (p.Ser1880=)
c.5628C>T (p.Ser1876=)
c.5601C>T (p.Ser1867=)
n.6185C>T
c.5955C>T (p.Ser1985=)
c.5949C>T (p.Ser1983=)
c.5946C>T (p.Ser1982=)
c.5841C>T (p.Ser1947=)
c.5838C>T (p.Ser1946=)
n.5970C>T
n.5885C>T
n.5956C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.77208439G>ACA132407MYO7Ac.5866G>A (p.Val1956Ile)
c.3693G>A
c.5719G>A (p.Val1907Ile)
c.3292G>A (p.Val1098Ile)
c.5752G>A (p.Val1918Ile)
n.3402G>A
n.780G>A
c.5749G>A (p.Val1917Ile)
c.5857G>A (p.Val1953Ile)
c.5860G>A (p.Val1954Ile)
c.5833G>A (p.Val1945Ile)
c.5770G>A (p.Val1924Ile)
c.5641G>A (p.Val1881Ile)
c.5629G>A (p.Val1877Ile)
c.5602G>A (p.Val1868Ile)
n.6186G>A
c.5956G>A (p.Val1986Ile)
c.5950G>A (p.Val1984Ile)
c.5947G>A (p.Val1983Ile)
c.5842G>A (p.Val1948Ile)
c.5839G>A (p.Val1947Ile)
n.5971G>A
n.5886G>A
n.5957G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77208439G>CCA381932515MYO7Ac.5866G>C (p.Val1956Leu)
c.3693G>C
c.5719G>C (p.Val1907Leu)
c.3292G>C (p.Val1098Leu)
c.5752G>C (p.Val1918Leu)
n.3402G>C
n.780G>C
c.5749G>C (p.Val1917Leu)
c.5857G>C (p.Val1953Leu)
c.5860G>C (p.Val1954Leu)
c.5833G>C (p.Val1945Leu)
c.5770G>C (p.Val1924Leu)
c.5641G>C (p.Val1881Leu)
c.5629G>C (p.Val1877Leu)
c.5602G>C (p.Val1868Leu)
n.6186G>C
c.5956G>C (p.Val1986Leu)
c.5950G>C (p.Val1984Leu)
c.5947G>C (p.Val1983Leu)
c.5842G>C (p.Val1948Leu)
c.5839G>C (p.Val1947Leu)
n.5971G>C
n.5886G>C
n.5957G>C
11g.77208439G=CA1984128421MYO7Ac.5866G= (p.Val1956=)
c.3693G=
c.5719G= (p.Val1907=)
c.3292G= (p.Val1098=)
c.5752G= (p.Val1918=)
n.3402G=
n.780G=
c.5749G= (p.Val1917=)
c.5857G= (p.Val1953=)
c.5860G= (p.Val1954=)
c.5833G= (p.Val1945=)
c.5770G= (p.Val1924=)
c.5641G= (p.Val1881=)
c.5629G= (p.Val1877=)
c.5602G= (p.Val1868=)
n.6186G=
c.5956G= (p.Val1986=)
c.5950G= (p.Val1984=)
c.5947G= (p.Val1983=)
c.5842G= (p.Val1948=)
c.5839G= (p.Val1947=)
n.5971G=
n.5886G=
n.5957G=
11g.77208439G>TCA381932517MYO7Ac.5866G>T (p.Val1956Phe)
c.3693G>T
c.5719G>T (p.Val1907Phe)
c.3292G>T (p.Val1098Phe)
c.5752G>T (p.Val1918Phe)
n.3402G>T
n.780G>T
c.5749G>T (p.Val1917Phe)
c.5857G>T (p.Val1953Phe)
c.5860G>T (p.Val1954Phe)
c.5833G>T (p.Val1945Phe)
c.5770G>T (p.Val1924Phe)
c.5641G>T (p.Val1881Phe)
c.5629G>T (p.Val1877Phe)
c.5602G>T (p.Val1868Phe)
n.6186G>T
c.5956G>T (p.Val1986Phe)
c.5950G>T (p.Val1984Phe)
c.5947G>T (p.Val1983Phe)
c.5842G>T (p.Val1948Phe)
c.5839G>T (p.Val1947Phe)
n.5971G>T
n.5886G>T
n.5957G>T
11g.77208440T>ACA381932520MYO7Ac.5867T>A (p.Val1956Asp)
c.3694T>A
c.5720T>A (p.Val1907Asp)
c.3293T>A (p.Val1098Asp)
c.5753T>A (p.Val1918Asp)
n.3403T>A
n.781T>A
c.5750T>A (p.Val1917Asp)
c.5858T>A (p.Val1953Asp)
c.5861T>A (p.Val1954Asp)
c.5834T>A (p.Val1945Asp)
c.5771T>A (p.Val1924Asp)
c.5642T>A (p.Val1881Asp)
c.5630T>A (p.Val1877Asp)
c.5603T>A (p.Val1868Asp)
n.6187T>A
c.5957T>A (p.Val1986Asp)
c.5951T>A (p.Val1984Asp)
c.5948T>A (p.Val1983Asp)
c.5843T>A (p.Val1948Asp)
c.5840T>A (p.Val1947Asp)
n.5972T>A
n.5887T>A
n.5958T>A
dbSNP gnomAD v4
11g.77208440T>CCA381932522MYO7Ac.5867T>C (p.Val1956Ala)
c.3694T>C
c.5720T>C (p.Val1907Ala)
c.3293T>C (p.Val1098Ala)
c.5753T>C (p.Val1918Ala)
n.3403T>C
n.781T>C
c.5750T>C (p.Val1917Ala)
c.5858T>C (p.Val1953Ala)
c.5861T>C (p.Val1954Ala)
c.5834T>C (p.Val1945Ala)
c.5771T>C (p.Val1924Ala)
c.5642T>C (p.Val1881Ala)
c.5630T>C (p.Val1877Ala)
c.5603T>C (p.Val1868Ala)
n.6187T>C
c.5957T>C (p.Val1986Ala)
c.5951T>C (p.Val1984Ala)
c.5948T>C (p.Val1983Ala)
c.5843T>C (p.Val1948Ala)
c.5840T>C (p.Val1947Ala)
n.5972T>C
n.5887T>C
n.5958T>C
11g.77208440T>GCA381932524MYO7Ac.5867T>G (p.Val1956Gly)
c.3694T>G
c.5720T>G (p.Val1907Gly)
c.3293T>G (p.Val1098Gly)
c.5753T>G (p.Val1918Gly)
n.3403T>G
n.781T>G
c.5750T>G (p.Val1917Gly)
c.5858T>G (p.Val1953Gly)
c.5861T>G (p.Val1954Gly)
c.5834T>G (p.Val1945Gly)
c.5771T>G (p.Val1924Gly)
c.5642T>G (p.Val1881Gly)
c.5630T>G (p.Val1877Gly)
c.5603T>G (p.Val1868Gly)
n.6187T>G
c.5957T>G (p.Val1986Gly)
c.5951T>G (p.Val1984Gly)
c.5948T>G (p.Val1983Gly)
c.5843T>G (p.Val1948Gly)
c.5840T>G (p.Val1947Gly)
n.5972T>G
n.5887T>G
n.5958T>G
11g.77208440T=CA1984128422MYO7Ac.5867T= (p.Val1956=)
c.3694T=
c.5720T= (p.Val1907=)
c.3293T= (p.Val1098=)
c.5753T= (p.Val1918=)
n.3403T=
n.781T=
c.5750T= (p.Val1917=)
c.5858T= (p.Val1953=)
c.5861T= (p.Val1954=)
c.5834T= (p.Val1945=)
c.5771T= (p.Val1924=)
c.5642T= (p.Val1881=)
c.5630T= (p.Val1877=)
c.5603T= (p.Val1868=)
n.6187T=
c.5957T= (p.Val1986=)
c.5951T= (p.Val1984=)
c.5948T= (p.Val1983=)
c.5843T= (p.Val1948=)
c.5840T= (p.Val1947=)
n.5972T=
n.5887T=
n.5958T=
11g.77208441T>ACA475791571MYO7Ac.5868T>A (p.Val1956=)
c.3695T>A
c.5721T>A (p.Val1907=)
c.3294T>A (p.Val1098=)
c.5754T>A (p.Val1918=)
n.3404T>A
n.782T>A
c.5751T>A (p.Val1917=)
c.5859T>A (p.Val1953=)
c.5862T>A (p.Val1954=)
c.5835T>A (p.Val1945=)
c.5772T>A (p.Val1924=)
c.5643T>A (p.Val1881=)
c.5631T>A (p.Val1877=)
c.5604T>A (p.Val1868=)
n.6188T>A
c.5958T>A (p.Val1986=)
c.5952T>A (p.Val1984=)
c.5949T>A (p.Val1983=)
c.5844T>A (p.Val1948=)
c.5841T>A (p.Val1947=)
n.5973T>A
n.5888T>A
n.5959T>A
11g.77208441T>CCA475791572MYO7Ac.5868T>C (p.Val1956=)
c.3695T>C
c.5721T>C (p.Val1907=)
c.3294T>C (p.Val1098=)
c.5754T>C (p.Val1918=)
n.3404T>C
n.782T>C
c.5751T>C (p.Val1917=)
c.5859T>C (p.Val1953=)
c.5862T>C (p.Val1954=)
c.5835T>C (p.Val1945=)
c.5772T>C (p.Val1924=)
c.5643T>C (p.Val1881=)
c.5631T>C (p.Val1877=)
c.5604T>C (p.Val1868=)
n.6188T>C
c.5958T>C (p.Val1986=)
c.5952T>C (p.Val1984=)
c.5949T>C (p.Val1983=)
c.5844T>C (p.Val1948=)
c.5841T>C (p.Val1947=)
n.5973T>C
n.5888T>C
n.5959T>C
11g.77208441T>GCA475791573MYO7Ac.5868T>G (p.Val1956=)
c.3695T>G
c.5721T>G (p.Val1907=)
c.3294T>G (p.Val1098=)
c.5754T>G (p.Val1918=)
n.3404T>G
n.782T>G
c.5751T>G (p.Val1917=)
c.5859T>G (p.Val1953=)
c.5862T>G (p.Val1954=)
c.5835T>G (p.Val1945=)
c.5772T>G (p.Val1924=)
c.5643T>G (p.Val1881=)
c.5631T>G (p.Val1877=)
c.5604T>G (p.Val1868=)
n.6188T>G
c.5958T>G (p.Val1986=)
c.5952T>G (p.Val1984=)
c.5949T>G (p.Val1983=)
c.5844T>G (p.Val1948=)
c.5841T>G (p.Val1947=)
n.5973T>G
n.5888T>G
n.5959T>G
11g.77208442C>ACA381932527MYO7Ac.5869C>A (p.Pro1957Thr)
c.3696C>A
c.5722C>A (p.Pro1908Thr)
c.3295C>A (p.Pro1099Thr)
c.5755C>A (p.Pro1919Thr)
n.3405C>A
n.783C>A
c.5752C>A (p.Pro1918Thr)
c.5860C>A (p.Pro1954Thr)
c.5863C>A (p.Pro1955Thr)
c.5836C>A (p.Pro1946Thr)
c.5773C>A (p.Pro1925Thr)
c.5644C>A (p.Pro1882Thr)
c.5632C>A (p.Pro1878Thr)
c.5605C>A (p.Pro1869Thr)
n.6189C>A
c.5959C>A (p.Pro1987Thr)
c.5953C>A (p.Pro1985Thr)
c.5950C>A (p.Pro1984Thr)
c.5845C>A (p.Pro1949Thr)
c.5842C>A (p.Pro1948Thr)
n.5974C>A
n.5889C>A
n.5960C>A
gnomAD v4
11g.77208442C=CA1984128423MYO7Ac.5869C= (p.Pro1957=)
c.3696C=
c.5722C= (p.Pro1908=)
c.3295C= (p.Pro1099=)
c.5755C= (p.Pro1919=)
n.3405C=
n.783C=
c.5752C= (p.Pro1918=)
c.5860C= (p.Pro1954=)
c.5863C= (p.Pro1955=)
c.5836C= (p.Pro1946=)
c.5773C= (p.Pro1925=)
c.5644C= (p.Pro1882=)
c.5632C= (p.Pro1878=)
c.5605C= (p.Pro1869=)
n.6189C=
c.5959C= (p.Pro1987=)
c.5953C= (p.Pro1985=)
c.5950C= (p.Pro1984=)
c.5845C= (p.Pro1949=)
c.5842C= (p.Pro1948=)
n.5974C=
n.5889C=
n.5960C=
11g.77208442C>GCA381932531MYO7Ac.5869C>G (p.Pro1957Ala)
c.3696C>G
c.5722C>G (p.Pro1908Ala)
c.3295C>G (p.Pro1099Ala)
c.5755C>G (p.Pro1919Ala)
n.3405C>G
n.783C>G
c.5752C>G (p.Pro1918Ala)
c.5860C>G (p.Pro1954Ala)
c.5863C>G (p.Pro1955Ala)
c.5836C>G (p.Pro1946Ala)
c.5773C>G (p.Pro1925Ala)
c.5644C>G (p.Pro1882Ala)
c.5632C>G (p.Pro1878Ala)
c.5605C>G (p.Pro1869Ala)
n.6189C>G
c.5959C>G (p.Pro1987Ala)
c.5953C>G (p.Pro1985Ala)
c.5950C>G (p.Pro1984Ala)
c.5845C>G (p.Pro1949Ala)
c.5842C>G (p.Pro1948Ala)
n.5974C>G
n.5889C>G
n.5960C>G
11g.77208442C>TCA381932529MYO7Ac.5869C>T (p.Pro1957Ser)
c.3696C>T
c.5722C>T (p.Pro1908Ser)
c.3295C>T (p.Pro1099Ser)
c.5755C>T (p.Pro1919Ser)
n.3405C>T
n.783C>T
c.5752C>T (p.Pro1918Ser)
c.5860C>T (p.Pro1954Ser)
c.5863C>T (p.Pro1955Ser)
c.5836C>T (p.Pro1946Ser)
c.5773C>T (p.Pro1925Ser)
c.5644C>T (p.Pro1882Ser)
c.5632C>T (p.Pro1878Ser)
c.5605C>T (p.Pro1869Ser)
n.6189C>T
c.5959C>T (p.Pro1987Ser)
c.5953C>T (p.Pro1985Ser)
c.5950C>T (p.Pro1984Ser)
c.5845C>T (p.Pro1949Ser)
c.5842C>T (p.Pro1948Ser)
n.5974C>T
n.5889C>T
n.5960C>T
dbSNP gnomAD v2
11g.77208442_77208443insACA2568683912MYO7Ac.5869_5870insA (p.Pro1957HisfsTer2)
c.3696_3697insA
c.5722_5723insA (p.Pro1908HisfsTer2)
c.3295_3296insA (p.Pro1099HisfsTer2)
c.5755_5756insA (p.Pro1919HisfsTer2)
n.3405_3406insA
n.783_784insA
c.5752_5753insA (p.Pro1918HisfsTer2)
c.5860_5861insA (p.Pro1954HisfsTer2)
c.5863_5864insA (p.Pro1955HisfsTer2)
c.5836_5837insA (p.Pro1946HisfsTer2)
c.5773_5774insA (p.Pro1925HisfsTer2)
c.5644_5645insA (p.Pro1882HisfsTer2)
c.5632_5633insA (p.Pro1878HisfsTer2)
c.5605_5606insA (p.Pro1869HisfsTer2)
n.6189_6190insA
c.5959_5960insA (p.Pro1987HisfsTer2)
c.5953_5954insA (p.Pro1985HisfsTer2)
c.5950_5951insA (p.Pro1984HisfsTer2)
c.5845_5846insA (p.Pro1949HisfsTer2)
c.5842_5843insA (p.Pro1948HisfsTer2)
n.5974_5975insA
n.5889_5890insA
n.5960_5961insA
11g.77208443C>ACA381932533MYO7Ac.5870C>A (p.Pro1957His)
c.3697C>A
c.5723C>A (p.Pro1908His)
c.3296C>A (p.Pro1099His)
c.5756C>A (p.Pro1919His)
n.3406C>A
n.784C>A
c.5753C>A (p.Pro1918His)
c.5861C>A (p.Pro1954His)
c.5864C>A (p.Pro1955His)
c.5837C>A (p.Pro1946His)
c.5774C>A (p.Pro1925His)
c.5645C>A (p.Pro1882His)
c.5633C>A (p.Pro1878His)
c.5606C>A (p.Pro1869His)
n.6190C>A
c.5960C>A (p.Pro1987His)
c.5954C>A (p.Pro1985His)
c.5951C>A (p.Pro1984His)
c.5846C>A (p.Pro1949His)
c.5843C>A (p.Pro1948His)
n.5975C>A
n.5890C>A
n.5961C>A
11g.77208443C>GCA381932535MYO7Ac.5870C>G (p.Pro1957Arg)
c.3697C>G
c.5723C>G (p.Pro1908Arg)
c.3296C>G (p.Pro1099Arg)
c.5756C>G (p.Pro1919Arg)
n.3406C>G
n.784C>G
c.5753C>G (p.Pro1918Arg)
c.5861C>G (p.Pro1954Arg)
c.5864C>G (p.Pro1955Arg)
c.5837C>G (p.Pro1946Arg)
c.5774C>G (p.Pro1925Arg)
c.5645C>G (p.Pro1882Arg)
c.5633C>G (p.Pro1878Arg)
c.5606C>G (p.Pro1869Arg)
n.6190C>G
c.5960C>G (p.Pro1987Arg)
c.5954C>G (p.Pro1985Arg)
c.5951C>G (p.Pro1984Arg)
c.5846C>G (p.Pro1949Arg)
c.5843C>G (p.Pro1948Arg)
n.5975C>G
n.5890C>G
n.5961C>G
11g.77208443C>TCA381932537MYO7Ac.5870C>T (p.Pro1957Leu)
c.3697C>T
c.5723C>T (p.Pro1908Leu)
c.3296C>T (p.Pro1099Leu)
c.5756C>T (p.Pro1919Leu)
n.3406C>T
n.784C>T
c.5753C>T (p.Pro1918Leu)
c.5861C>T (p.Pro1954Leu)
c.5864C>T (p.Pro1955Leu)
c.5837C>T (p.Pro1946Leu)
c.5774C>T (p.Pro1925Leu)
c.5645C>T (p.Pro1882Leu)
c.5633C>T (p.Pro1878Leu)
c.5606C>T (p.Pro1869Leu)
n.6190C>T
c.5960C>T (p.Pro1987Leu)
c.5954C>T (p.Pro1985Leu)
c.5951C>T (p.Pro1984Leu)
c.5846C>T (p.Pro1949Leu)
c.5843C>T (p.Pro1948Leu)
n.5975C>T
n.5890C>T
n.5961C>T
11g.77208444T>ACA6198860MYO7Ac.5871T>A (p.Pro1957=)
c.3698T>A
c.5724T>A (p.Pro1908=)
c.3297T>A (p.Pro1099=)
c.5757T>A (p.Pro1919=)
n.3407T>A
n.785T>A
c.5754T>A (p.Pro1918=)
c.5862T>A (p.Pro1954=)
c.5865T>A (p.Pro1955=)
c.5838T>A (p.Pro1946=)
c.5775T>A (p.Pro1925=)
c.5646T>A (p.Pro1882=)
c.5634T>A (p.Pro1878=)
c.5607T>A (p.Pro1869=)
n.6191T>A
c.5961T>A (p.Pro1987=)
c.5955T>A (p.Pro1985=)
c.5952T>A (p.Pro1984=)
c.5847T>A (p.Pro1949=)
c.5844T>A (p.Pro1948=)
n.5976T>A
n.5891T>A
n.5962T>A
dbSNP ExAC gnomAD v2
11g.77208444T>CCA475791576MYO7Ac.5871T>C (p.Pro1957=)
c.3698T>C
c.5724T>C (p.Pro1908=)
c.3297T>C (p.Pro1099=)
c.5757T>C (p.Pro1919=)
n.3407T>C
n.785T>C
c.5754T>C (p.Pro1918=)
c.5862T>C (p.Pro1954=)
c.5865T>C (p.Pro1955=)
c.5838T>C (p.Pro1946=)
c.5775T>C (p.Pro1925=)
c.5646T>C (p.Pro1882=)
c.5634T>C (p.Pro1878=)
c.5607T>C (p.Pro1869=)
n.6191T>C
c.5961T>C (p.Pro1987=)
c.5955T>C (p.Pro1985=)
c.5952T>C (p.Pro1984=)
c.5847T>C (p.Pro1949=)
c.5844T>C (p.Pro1948=)
n.5976T>C
n.5891T>C
n.5962T>C
11g.77208444T>GCA475791575MYO7Ac.5871T>G (p.Pro1957=)
c.3698T>G
c.5724T>G (p.Pro1908=)
c.3297T>G (p.Pro1099=)
c.5757T>G (p.Pro1919=)
n.3407T>G
n.785T>G
c.5754T>G (p.Pro1918=)
c.5862T>G (p.Pro1954=)
c.5865T>G (p.Pro1955=)
c.5838T>G (p.Pro1946=)
c.5775T>G (p.Pro1925=)
c.5646T>G (p.Pro1882=)
c.5634T>G (p.Pro1878=)
c.5607T>G (p.Pro1869=)
n.6191T>G
c.5961T>G (p.Pro1987=)
c.5955T>G (p.Pro1985=)
c.5952T>G (p.Pro1984=)
c.5847T>G (p.Pro1949=)
c.5844T>G (p.Pro1948=)
n.5976T>G
n.5891T>G
n.5962T>G
gnomAD v4
11g.77208444T=CA1984128424MYO7Ac.5871T= (p.Pro1957=)
c.3698T=
c.5724T= (p.Pro1908=)
c.3297T= (p.Pro1099=)
c.5757T= (p.Pro1919=)
n.3407T=
n.785T=
c.5754T= (p.Pro1918=)
c.5862T= (p.Pro1954=)
c.5865T= (p.Pro1955=)
c.5838T= (p.Pro1946=)
c.5775T= (p.Pro1925=)
c.5646T= (p.Pro1882=)
c.5634T= (p.Pro1878=)
c.5607T= (p.Pro1869=)
n.6191T=
c.5961T= (p.Pro1987=)
c.5955T= (p.Pro1985=)
c.5952T= (p.Pro1984=)
c.5847T= (p.Pro1949=)
c.5844T= (p.Pro1948=)
n.5976T=
n.5891T=
n.5962T=
11g.77208445G>ACA381932540MYO7Ac.5872G>A (p.Glu1958Lys)
c.3699G>A
c.5725G>A (p.Glu1909Lys)
c.3298G>A (p.Glu1100Lys)
c.5758G>A (p.Glu1920Lys)
n.3408G>A
n.786G>A
c.5755G>A (p.Glu1919Lys)
c.5863G>A (p.Glu1955Lys)
c.5866G>A (p.Glu1956Lys)
c.5839G>A (p.Glu1947Lys)
c.5776G>A (p.Glu1926Lys)
c.5647G>A (p.Glu1883Lys)
c.5635G>A (p.Glu1879Lys)
c.5608G>A (p.Glu1870Lys)
n.6192G>A
c.5962G>A (p.Glu1988Lys)
c.5956G>A (p.Glu1986Lys)
c.5953G>A (p.Glu1985Lys)
c.5848G>A (p.Glu1950Lys)
c.5845G>A (p.Glu1949Lys)
n.5977G>A
n.5892G>A
n.5963G>A
11g.77208445G>CCA381932542MYO7Ac.5872G>C (p.Glu1958Gln)
c.3699G>C
c.5725G>C (p.Glu1909Gln)
c.3298G>C (p.Glu1100Gln)
c.5758G>C (p.Glu1920Gln)
n.3408G>C
n.786G>C
c.5755G>C (p.Glu1919Gln)
c.5863G>C (p.Glu1955Gln)
c.5866G>C (p.Glu1956Gln)
c.5839G>C (p.Glu1947Gln)
c.5776G>C (p.Glu1926Gln)
c.5647G>C (p.Glu1883Gln)
c.5635G>C (p.Glu1879Gln)
c.5608G>C (p.Glu1870Gln)
n.6192G>C
c.5962G>C (p.Glu1988Gln)
c.5956G>C (p.Glu1986Gln)
c.5953G>C (p.Glu1985Gln)
c.5848G>C (p.Glu1950Gln)
c.5845G>C (p.Glu1949Gln)
n.5977G>C
n.5892G>C
n.5963G>C
dbSNP
11g.77208445G=CA1984128425MYO7Ac.5872G= (p.Glu1958=)
c.3699G=
c.5725G= (p.Glu1909=)
c.3298G= (p.Glu1100=)
c.5758G= (p.Glu1920=)
n.3408G=
n.786G=
c.5755G= (p.Glu1919=)
c.5863G= (p.Glu1955=)
c.5866G= (p.Glu1956=)
c.5839G= (p.Glu1947=)
c.5776G= (p.Glu1926=)
c.5647G= (p.Glu1883=)
c.5635G= (p.Glu1879=)
c.5608G= (p.Glu1870=)
n.6192G=
c.5962G= (p.Glu1988=)
c.5956G= (p.Glu1986=)
c.5953G= (p.Glu1985=)
c.5848G= (p.Glu1950=)
c.5845G= (p.Glu1949=)
n.5977G=
n.5892G=
n.5963G=
11g.77208445G>TCA381932544MYO7Ac.5872G>T (p.Glu1958Ter)
c.3699G>T
c.5725G>T (p.Glu1909Ter)
c.3298G>T (p.Glu1100Ter)
c.5758G>T (p.Glu1920Ter)
n.3408G>T
n.786G>T
c.5755G>T (p.Glu1919Ter)
c.5863G>T (p.Glu1955Ter)
c.5866G>T (p.Glu1956Ter)
c.5839G>T (p.Glu1947Ter)
c.5776G>T (p.Glu1926Ter)
c.5647G>T (p.Glu1883Ter)
c.5635G>T (p.Glu1879Ter)
c.5608G>T (p.Glu1870Ter)
n.6192G>T
c.5962G>T (p.Glu1988Ter)
c.5956G>T (p.Glu1986Ter)
c.5953G>T (p.Glu1985Ter)
c.5848G>T (p.Glu1950Ter)
c.5845G>T (p.Glu1949Ter)
n.5977G>T
n.5892G>T
n.5963G>T
11g.77208446A=CA1984128426MYO7Ac.5873A= (p.Glu1958=)
c.3700A=
c.5726A= (p.Glu1909=)
c.3299A= (p.Glu1100=)
c.5759A= (p.Glu1920=)
n.3409A=
n.787A=
c.5756A= (p.Glu1919=)
c.5864A= (p.Glu1955=)
c.5867A= (p.Glu1956=)
c.5840A= (p.Glu1947=)
c.5777A= (p.Glu1926=)
c.5648A= (p.Glu1883=)
c.5636A= (p.Glu1879=)
c.5609A= (p.Glu1870=)
n.6193A=
c.5963A= (p.Glu1988=)
c.5957A= (p.Glu1986=)
c.5954A= (p.Glu1985=)
c.5849A= (p.Glu1950=)
c.5846A= (p.Glu1949=)
n.5978A=
n.5893A=
n.5964A=
11g.77208446A>CCA381932547MYO7Ac.5873A>C (p.Glu1958Ala)
c.3700A>C
c.5726A>C (p.Glu1909Ala)
c.3299A>C (p.Glu1100Ala)
c.5759A>C (p.Glu1920Ala)
n.3409A>C
n.787A>C
c.5756A>C (p.Glu1919Ala)
c.5864A>C (p.Glu1955Ala)
c.5867A>C (p.Glu1956Ala)
c.5840A>C (p.Glu1947Ala)
c.5777A>C (p.Glu1926Ala)
c.5648A>C (p.Glu1883Ala)
c.5636A>C (p.Glu1879Ala)
c.5609A>C (p.Glu1870Ala)
n.6193A>C
c.5963A>C (p.Glu1988Ala)
c.5957A>C (p.Glu1986Ala)
c.5954A>C (p.Glu1985Ala)
c.5849A>C (p.Glu1950Ala)
c.5846A>C (p.Glu1949Ala)
n.5978A>C
n.5893A>C
n.5964A>C
11g.77208446A>GCA381932549MYO7Ac.5873A>G (p.Glu1958Gly)
c.3700A>G
c.5726A>G (p.Glu1909Gly)
c.3299A>G (p.Glu1100Gly)
c.5759A>G (p.Glu1920Gly)
n.3409A>G
n.787A>G
c.5756A>G (p.Glu1919Gly)
c.5864A>G (p.Glu1955Gly)
c.5867A>G (p.Glu1956Gly)
c.5840A>G (p.Glu1947Gly)
c.5777A>G (p.Glu1926Gly)
c.5648A>G (p.Glu1883Gly)
c.5636A>G (p.Glu1879Gly)
c.5609A>G (p.Glu1870Gly)
n.6193A>G
c.5963A>G (p.Glu1988Gly)
c.5957A>G (p.Glu1986Gly)
c.5954A>G (p.Glu1985Gly)
c.5849A>G (p.Glu1950Gly)
c.5846A>G (p.Glu1949Gly)
n.5978A>G
n.5893A>G
n.5964A>G
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77208446A>TCA381932551MYO7Ac.5873A>T (p.Glu1958Val)
c.3700A>T
c.5726A>T (p.Glu1909Val)
c.3299A>T (p.Glu1100Val)
c.5759A>T (p.Glu1920Val)
n.3409A>T
n.787A>T
c.5756A>T (p.Glu1919Val)
c.5864A>T (p.Glu1955Val)
c.5867A>T (p.Glu1956Val)
c.5840A>T (p.Glu1947Val)
c.5777A>T (p.Glu1926Val)
c.5648A>T (p.Glu1883Val)
c.5636A>T (p.Glu1879Val)
c.5609A>T (p.Glu1870Val)
n.6193A>T
c.5963A>T (p.Glu1988Val)
c.5957A>T (p.Glu1986Val)
c.5954A>T (p.Glu1985Val)
c.5849A>T (p.Glu1950Val)
c.5846A>T (p.Glu1949Val)
n.5978A>T
n.5893A>T
n.5964A>T
11g.77208447G>ACA475791578MYO7Ac.5874G>A (p.Glu1958=)
c.3701G>A
c.5727G>A (p.Glu1909=)
c.3300G>A (p.Glu1100=)
c.5760G>A (p.Glu1920=)
n.3410G>A
n.788G>A
c.5757G>A (p.Glu1919=)
c.5865G>A (p.Glu1955=)
c.5868G>A (p.Glu1956=)
c.5841G>A (p.Glu1947=)
c.5778G>A (p.Glu1926=)
c.5649G>A (p.Glu1883=)
c.5637G>A (p.Glu1879=)
c.5610G>A (p.Glu1870=)
n.6194G>A
c.5964G>A (p.Glu1988=)
c.5958G>A (p.Glu1986=)
c.5955G>A (p.Glu1985=)
c.5850G>A (p.Glu1950=)
c.5847G>A (p.Glu1949=)
n.5979G>A
n.5894G>A
n.5965G>A
ClinVar dbSNP
11g.77208447G>CCA381932553MYO7Ac.5874G>C (p.Glu1958Asp)
c.3701G>C
c.5727G>C (p.Glu1909Asp)
c.3300G>C (p.Glu1100Asp)
c.5760G>C (p.Glu1920Asp)
n.3410G>C
n.788G>C
c.5757G>C (p.Glu1919Asp)
c.5865G>C (p.Glu1955Asp)
c.5868G>C (p.Glu1956Asp)
c.5841G>C (p.Glu1947Asp)
c.5778G>C (p.Glu1926Asp)
c.5649G>C (p.Glu1883Asp)
c.5637G>C (p.Glu1879Asp)
c.5610G>C (p.Glu1870Asp)
n.6194G>C
c.5964G>C (p.Glu1988Asp)
c.5958G>C (p.Glu1986Asp)
c.5955G>C (p.Glu1985Asp)
c.5850G>C (p.Glu1950Asp)
c.5847G>C (p.Glu1949Asp)
n.5979G>C
n.5894G>C
n.5965G>C
11g.77208447G>TCA381932555MYO7Ac.5874G>T (p.Glu1958Asp)
c.3701G>T
c.5727G>T (p.Glu1909Asp)
c.3300G>T (p.Glu1100Asp)
c.5760G>T (p.Glu1920Asp)
n.3410G>T
n.788G>T
c.5757G>T (p.Glu1919Asp)
c.5865G>T (p.Glu1955Asp)
c.5868G>T (p.Glu1956Asp)
c.5841G>T (p.Glu1947Asp)
c.5778G>T (p.Glu1926Asp)
c.5649G>T (p.Glu1883Asp)
c.5637G>T (p.Glu1879Asp)
c.5610G>T (p.Glu1870Asp)
n.6194G>T
c.5964G>T (p.Glu1988Asp)
c.5958G>T (p.Glu1986Asp)
c.5955G>T (p.Glu1985Asp)
c.5850G>T (p.Glu1950Asp)
c.5847G>T (p.Glu1949Asp)
n.5979G>T
n.5894G>T
n.5965G>T
11g.77208448A=CA1984128427MYO7Ac.5875A= (p.Asn1959=)
c.3702A=
c.5728A= (p.Asn1910=)
c.3301A= (p.Asn1101=)
c.5761A= (p.Asn1921=)
n.3411A=
n.789A=
c.5758A= (p.Asn1920=)
c.5866A= (p.Asn1956=)
c.5869A= (p.Asn1957=)
c.5842A= (p.Asn1948=)
c.5779A= (p.Asn1927=)
c.5650A= (p.Asn1884=)
c.5638A= (p.Asn1880=)
c.5611A= (p.Asn1871=)
n.6195A=
c.5965A= (p.Asn1989=)
c.5959A= (p.Asn1987=)
c.5956A= (p.Asn1986=)
c.5851A= (p.Asn1951=)
c.5848A= (p.Asn1950=)
n.5980A=
n.5895A=
n.5966A=
11g.77208448A>CCA381932562MYO7Ac.5875A>C (p.Asn1959His)
c.3702A>C
c.5728A>C (p.Asn1910His)
c.3301A>C (p.Asn1101His)
c.5761A>C (p.Asn1921His)
n.3411A>C
n.789A>C
c.5758A>C (p.Asn1920His)
c.5866A>C (p.Asn1956His)
c.5869A>C (p.Asn1957His)
c.5842A>C (p.Asn1948His)
c.5779A>C (p.Asn1927His)
c.5650A>C (p.Asn1884His)
c.5638A>C (p.Asn1880His)
c.5611A>C (p.Asn1871His)
n.6195A>C
c.5965A>C (p.Asn1989His)
c.5959A>C (p.Asn1987His)
c.5956A>C (p.Asn1986His)
c.5851A>C (p.Asn1951His)
c.5848A>C (p.Asn1950His)
n.5980A>C
n.5895A>C
n.5966A>C
11g.77208448A>GCA381932558MYO7Ac.5875A>G (p.Asn1959Asp)
c.3702A>G
c.5728A>G (p.Asn1910Asp)
c.3301A>G (p.Asn1101Asp)
c.5761A>G (p.Asn1921Asp)
n.3411A>G
n.789A>G
c.5758A>G (p.Asn1920Asp)
c.5866A>G (p.Asn1956Asp)
c.5869A>G (p.Asn1957Asp)
c.5842A>G (p.Asn1948Asp)
c.5779A>G (p.Asn1927Asp)
c.5650A>G (p.Asn1884Asp)
c.5638A>G (p.Asn1880Asp)
c.5611A>G (p.Asn1871Asp)
n.6195A>G
c.5965A>G (p.Asn1989Asp)
c.5959A>G (p.Asn1987Asp)
c.5956A>G (p.Asn1986Asp)
c.5851A>G (p.Asn1951Asp)
c.5848A>G (p.Asn1950Asp)
n.5980A>G
n.5895A>G
n.5966A>G
dbSNP
11g.77208448A>TCA381932560MYO7Ac.5875A>T (p.Asn1959Tyr)
c.3702A>T
c.5728A>T (p.Asn1910Tyr)
c.3301A>T (p.Asn1101Tyr)
c.5761A>T (p.Asn1921Tyr)
n.3411A>T
n.789A>T
c.5758A>T (p.Asn1920Tyr)
c.5866A>T (p.Asn1956Tyr)
c.5869A>T (p.Asn1957Tyr)
c.5842A>T (p.Asn1948Tyr)
c.5779A>T (p.Asn1927Tyr)
c.5650A>T (p.Asn1884Tyr)
c.5638A>T (p.Asn1880Tyr)
c.5611A>T (p.Asn1871Tyr)
n.6195A>T
c.5965A>T (p.Asn1989Tyr)
c.5959A>T (p.Asn1987Tyr)
c.5956A>T (p.Asn1986Tyr)
c.5851A>T (p.Asn1951Tyr)
c.5848A>T (p.Asn1950Tyr)
n.5980A>T
n.5895A>T
n.5966A>T
11g.77208449A=CA1984128428MYO7Ac.5876A= (p.Asn1959=)
c.3703A=
c.5729A= (p.Asn1910=)
c.3302A= (p.Asn1101=)
c.5762A= (p.Asn1921=)
n.3412A=
n.790A=
c.5759A= (p.Asn1920=)
c.5867A= (p.Asn1956=)
c.5870A= (p.Asn1957=)
c.5843A= (p.Asn1948=)
c.5780A= (p.Asn1927=)
c.5651A= (p.Asn1884=)
c.5639A= (p.Asn1880=)
c.5612A= (p.Asn1871=)
n.6196A=
c.5966A= (p.Asn1989=)
c.5960A= (p.Asn1987=)
c.5957A= (p.Asn1986=)
c.5852A= (p.Asn1951=)
c.5849A= (p.Asn1950=)
n.5981A=
n.5896A=
n.5967A=
11g.77208449A>CCA381932565MYO7Ac.5876A>C (p.Asn1959Thr)
c.3703A>C
c.5729A>C (p.Asn1910Thr)
c.3302A>C (p.Asn1101Thr)
c.5762A>C (p.Asn1921Thr)
n.3412A>C
n.790A>C
c.5759A>C (p.Asn1920Thr)
c.5867A>C (p.Asn1956Thr)
c.5870A>C (p.Asn1957Thr)
c.5843A>C (p.Asn1948Thr)
c.5780A>C (p.Asn1927Thr)
c.5651A>C (p.Asn1884Thr)
c.5639A>C (p.Asn1880Thr)
c.5612A>C (p.Asn1871Thr)
n.6196A>C
c.5966A>C (p.Asn1989Thr)
c.5960A>C (p.Asn1987Thr)
c.5957A>C (p.Asn1986Thr)
c.5852A>C (p.Asn1951Thr)
c.5849A>C (p.Asn1950Thr)
n.5981A>C
n.5896A>C
n.5967A>C
11g.77208449A>GCA381932567MYO7Ac.5876A>G (p.Asn1959Ser)
c.3703A>G
c.5729A>G (p.Asn1910Ser)
c.3302A>G (p.Asn1101Ser)
c.5762A>G (p.Asn1921Ser)
n.3412A>G
n.790A>G
c.5759A>G (p.Asn1920Ser)
c.5867A>G (p.Asn1956Ser)
c.5870A>G (p.Asn1957Ser)
c.5843A>G (p.Asn1948Ser)
c.5780A>G (p.Asn1927Ser)
c.5651A>G (p.Asn1884Ser)
c.5639A>G (p.Asn1880Ser)
c.5612A>G (p.Asn1871Ser)
n.6196A>G
c.5966A>G (p.Asn1989Ser)
c.5960A>G (p.Asn1987Ser)
c.5957A>G (p.Asn1986Ser)
c.5852A>G (p.Asn1951Ser)
c.5849A>G (p.Asn1950Ser)
n.5981A>G
n.5896A>G
n.5967A>G
dbSNP
11g.77208449A>TCA381932569MYO7Ac.5876A>T (p.Asn1959Ile)
c.3703A>T
c.5729A>T (p.Asn1910Ile)
c.3302A>T (p.Asn1101Ile)
c.5762A>T (p.Asn1921Ile)
n.3412A>T
n.790A>T
c.5759A>T (p.Asn1920Ile)
c.5867A>T (p.Asn1956Ile)
c.5870A>T (p.Asn1957Ile)
c.5843A>T (p.Asn1948Ile)
c.5780A>T (p.Asn1927Ile)
c.5651A>T (p.Asn1884Ile)
c.5639A>T (p.Asn1880Ile)
c.5612A>T (p.Asn1871Ile)
n.6196A>T
c.5966A>T (p.Asn1989Ile)
c.5960A>T (p.Asn1987Ile)
c.5957A>T (p.Asn1986Ile)
c.5852A>T (p.Asn1951Ile)
c.5849A>T (p.Asn1950Ile)
n.5981A>T
n.5896A>T
n.5967A>T
11g.77208450T>ACA381932575MYO7Ac.5877T>A (p.Asn1959Lys)
c.3704T>A
c.5730T>A (p.Asn1910Lys)
c.3303T>A (p.Asn1101Lys)
c.5763T>A (p.Asn1921Lys)
n.3413T>A
n.791T>A
c.5760T>A (p.Asn1920Lys)
c.5868T>A (p.Asn1956Lys)
c.5871T>A (p.Asn1957Lys)
c.5844T>A (p.Asn1948Lys)
c.5781T>A (p.Asn1927Lys)
c.5652T>A (p.Asn1884Lys)
c.5640T>A (p.Asn1880Lys)
c.5613T>A (p.Asn1871Lys)
n.6197T>A
c.5967T>A (p.Asn1989Lys)
c.5961T>A (p.Asn1987Lys)
c.5958T>A (p.Asn1986Lys)
c.5853T>A (p.Asn1951Lys)
c.5850T>A (p.Asn1950Lys)
n.5982T>A
n.5897T>A
n.5968T>A
11g.77208450T>CCA475791579MYO7Ac.5877T>C (p.Asn1959=)
c.3704T>C
c.5730T>C (p.Asn1910=)
c.3303T>C (p.Asn1101=)
c.5763T>C (p.Asn1921=)
n.3413T>C
n.791T>C
c.5760T>C (p.Asn1920=)
c.5868T>C (p.Asn1956=)
c.5871T>C (p.Asn1957=)
c.5844T>C (p.Asn1948=)
c.5781T>C (p.Asn1927=)
c.5652T>C (p.Asn1884=)
c.5640T>C (p.Asn1880=)
c.5613T>C (p.Asn1871=)
n.6197T>C
c.5967T>C (p.Asn1989=)
c.5961T>C (p.Asn1987=)
c.5958T>C (p.Asn1986=)
c.5853T>C (p.Asn1951=)
c.5850T>C (p.Asn1950=)
n.5982T>C
n.5897T>C
n.5968T>C
dbSNP
11g.77208450T>GCA381932577MYO7Ac.5877T>G (p.Asn1959Lys)
c.3704T>G
c.5730T>G (p.Asn1910Lys)
c.3303T>G (p.Asn1101Lys)
c.5763T>G (p.Asn1921Lys)
n.3413T>G
n.791T>G
c.5760T>G (p.Asn1920Lys)
c.5868T>G (p.Asn1956Lys)
c.5871T>G (p.Asn1957Lys)
c.5844T>G (p.Asn1948Lys)
c.5781T>G (p.Asn1927Lys)
c.5652T>G (p.Asn1884Lys)
c.5640T>G (p.Asn1880Lys)
c.5613T>G (p.Asn1871Lys)
n.6197T>G
c.5967T>G (p.Asn1989Lys)
c.5961T>G (p.Asn1987Lys)
c.5958T>G (p.Asn1986Lys)
c.5853T>G (p.Asn1951Lys)
c.5850T>G (p.Asn1950Lys)
n.5982T>G
n.5897T>G
n.5968T>G
11g.77208451G>ACA381932580MYO7Ac.5878G>A (p.Asp1960Asn)
c.3705G>A
c.5731G>A (p.Asp1911Asn)
c.3304G>A (p.Asp1102Asn)
c.5764G>A (p.Asp1922Asn)
n.3414G>A
n.792G>A
c.5761G>A (p.Asp1921Asn)
c.5869G>A (p.Asp1957Asn)
c.5872G>A (p.Asp1958Asn)
c.5845G>A (p.Asp1949Asn)
c.5782G>A (p.Asp1928Asn)
c.5653G>A (p.Asp1885Asn)
c.5641G>A (p.Asp1881Asn)
c.5614G>A (p.Asp1872Asn)
n.6198G>A
c.5968G>A (p.Asp1990Asn)
c.5962G>A (p.Asp1988Asn)
c.5959G>A (p.Asp1987Asn)
c.5854G>A (p.Asp1952Asn)
c.5851G>A (p.Asp1951Asn)
n.5983G>A
n.5898G>A
n.5969G>A
11g.77208451G>CCA381932582MYO7Ac.5878G>C (p.Asp1960His)
c.3705G>C
c.5731G>C (p.Asp1911His)
c.3304G>C (p.Asp1102His)
c.5764G>C (p.Asp1922His)
n.3414G>C
n.792G>C
c.5761G>C (p.Asp1921His)
c.5869G>C (p.Asp1957His)
c.5872G>C (p.Asp1958His)
c.5845G>C (p.Asp1949His)
c.5782G>C (p.Asp1928His)
c.5653G>C (p.Asp1885His)
c.5641G>C (p.Asp1881His)
c.5614G>C (p.Asp1872His)
n.6198G>C
c.5968G>C (p.Asp1990His)
c.5962G>C (p.Asp1988His)
c.5959G>C (p.Asp1987His)
c.5854G>C (p.Asp1952His)
c.5851G>C (p.Asp1951His)
n.5983G>C
n.5898G>C
n.5969G>C
gnomAD v4
11g.77208451G>TCA381932584MYO7Ac.5878G>T (p.Asp1960Tyr)
c.3705G>T
c.5731G>T (p.Asp1911Tyr)
c.3304G>T (p.Asp1102Tyr)
c.5764G>T (p.Asp1922Tyr)
n.3414G>T
n.792G>T
c.5761G>T (p.Asp1921Tyr)
c.5869G>T (p.Asp1957Tyr)
c.5872G>T (p.Asp1958Tyr)
c.5845G>T (p.Asp1949Tyr)
c.5782G>T (p.Asp1928Tyr)
c.5653G>T (p.Asp1885Tyr)
c.5641G>T (p.Asp1881Tyr)
c.5614G>T (p.Asp1872Tyr)
n.6198G>T
c.5968G>T (p.Asp1990Tyr)
c.5962G>T (p.Asp1988Tyr)
c.5959G>T (p.Asp1987Tyr)
c.5854G>T (p.Asp1952Tyr)
c.5851G>T (p.Asp1951Tyr)
n.5983G>T
n.5898G>T
n.5969G>T
gnomAD v4
11g.77208451_77208453delCA2615255347MYO7Ac.5878_5880del (p.Asp1960del)
c.3705_3707del
c.5731_5733del (p.Asp1911del)
c.3304_3306del (p.Asp1102del)
c.5764_5766del (p.Asp1922del)
n.3414_3416del
n.792_794del
c.5761_5763del (p.Asp1921del)
c.5869_5871del (p.Asp1957del)
c.5872_5874del (p.Asp1958del)
c.5845_5847del (p.Asp1949del)
c.5782_5784del (p.Asp1928del)
c.5653_5655del (p.Asp1885del)
c.5641_5643del (p.Asp1881del)
c.5614_5616del (p.Asp1872del)
n.6198_6200del
c.5968_5970del (p.Asp1990del)
c.5962_5964del (p.Asp1988del)
c.5959_5961del (p.Asp1987del)
c.5854_5856del (p.Asp1952del)
c.5851_5853del (p.Asp1951del)
n.5983_5985del
n.5898_5900del
n.5969_5971del
gnomAD v4
11g.77208452A=CA1984128430MYO7Ac.5879A= (p.Asp1960=)
c.3706A=
c.5732A= (p.Asp1911=)
c.3305A= (p.Asp1102=)
c.5765A= (p.Asp1922=)
n.3415A=
n.793A=
c.5762A= (p.Asp1921=)
c.5870A= (p.Asp1957=)
c.5873A= (p.Asp1958=)
c.5846A= (p.Asp1949=)
c.5783A= (p.Asp1928=)
c.5654A= (p.Asp1885=)
c.5642A= (p.Asp1881=)
c.5615A= (p.Asp1872=)
n.6199A=
c.5969A= (p.Asp1990=)
c.5963A= (p.Asp1988=)
c.5960A= (p.Asp1987=)
c.5855A= (p.Asp1952=)
c.5852A= (p.Asp1951=)
n.5984A=
n.5899A=
n.5970A=
11g.77208452A>CCA381932587MYO7Ac.5879A>C (p.Asp1960Ala)
c.3706A>C
c.5732A>C (p.Asp1911Ala)
c.3305A>C (p.Asp1102Ala)
c.5765A>C (p.Asp1922Ala)
n.3415A>C
n.793A>C
c.5762A>C (p.Asp1921Ala)
c.5870A>C (p.Asp1957Ala)
c.5873A>C (p.Asp1958Ala)
c.5846A>C (p.Asp1949Ala)
c.5783A>C (p.Asp1928Ala)
c.5654A>C (p.Asp1885Ala)
c.5642A>C (p.Asp1881Ala)
c.5615A>C (p.Asp1872Ala)
n.6199A>C
c.5969A>C (p.Asp1990Ala)
c.5963A>C (p.Asp1988Ala)
c.5960A>C (p.Asp1987Ala)
c.5855A>C (p.Asp1952Ala)
c.5852A>C (p.Asp1951Ala)
n.5984A>C
n.5899A>C
n.5970A>C
11g.77208452A>GCA381932589MYO7Ac.5879A>G (p.Asp1960Gly)
c.3706A>G
c.5732A>G (p.Asp1911Gly)
c.3305A>G (p.Asp1102Gly)
c.5765A>G (p.Asp1922Gly)
n.3415A>G
n.793A>G
c.5762A>G (p.Asp1921Gly)
c.5870A>G (p.Asp1957Gly)
c.5873A>G (p.Asp1958Gly)
c.5846A>G (p.Asp1949Gly)
c.5783A>G (p.Asp1928Gly)
c.5654A>G (p.Asp1885Gly)
c.5642A>G (p.Asp1881Gly)
c.5615A>G (p.Asp1872Gly)
n.6199A>G
c.5969A>G (p.Asp1990Gly)
c.5963A>G (p.Asp1988Gly)
c.5960A>G (p.Asp1987Gly)
c.5855A>G (p.Asp1952Gly)
c.5852A>G (p.Asp1951Gly)
n.5984A>G
n.5899A>G
n.5970A>G
11g.77208452A>TCA6198861MYO7Ac.5879A>T (p.Asp1960Val)
c.3706A>T
c.5732A>T (p.Asp1911Val)
c.3305A>T (p.Asp1102Val)
c.5765A>T (p.Asp1922Val)
n.3415A>T
n.793A>T
c.5762A>T (p.Asp1921Val)
c.5870A>T (p.Asp1957Val)
c.5873A>T (p.Asp1958Val)
c.5846A>T (p.Asp1949Val)
c.5783A>T (p.Asp1928Val)
c.5654A>T (p.Asp1885Val)
c.5642A>T (p.Asp1881Val)
c.5615A>T (p.Asp1872Val)
n.6199A>T
c.5969A>T (p.Asp1990Val)
c.5963A>T (p.Asp1988Val)
c.5960A>T (p.Asp1987Val)
c.5855A>T (p.Asp1952Val)
c.5852A>T (p.Asp1951Val)
n.5984A>T
n.5899A>T
n.5970A>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77208452_77208453delCA2695215063MYO7Ac.5879_5880del (p.Asp1960ValfsTer4)
c.3706_3707del
c.5732_5733del (p.Asp1911ValfsTer4)
c.3305_3306del (p.Asp1102ValfsTer4)
c.5765_5766del (p.Asp1922ValfsTer4)
n.3415_3416del
n.793_794del
c.5762_5763del (p.Asp1921ValfsTer4)
c.5870_5871del (p.Asp1957ValfsTer4)
c.5873_5874del (p.Asp1958ValfsTer4)
c.5846_5847del (p.Asp1949ValfsTer4)
c.5783_5784del (p.Asp1928ValfsTer4)
c.5654_5655del (p.Asp1885ValfsTer4)
c.5642_5643del (p.Asp1881ValfsTer4)
c.5615_5616del (p.Asp1872ValfsTer4)
n.6199_6200del
c.5969_5970del (p.Asp1990ValfsTer4)
c.5963_5964del (p.Asp1988ValfsTer4)
c.5960_5961del (p.Asp1987ValfsTer4)
c.5855_5856del (p.Asp1952ValfsTer4)
c.5852_5853del (p.Asp1951ValfsTer4)
n.5984_5985del
n.5899_5900del
n.5970_5971del
11g.77208452_77208455delinsACTTCA1984128429MYO7Ac.5879_5882delinsACTT (p.Asp1960=)
c.3706_3709delinsACTT
c.5732_5735delinsACTT (p.Asp1911=)
c.3305_3308delinsACTT (p.Asp1102=)
c.5765_5768delinsACTT (p.Asp1922=)
n.3415_3418delinsACTT
n.793_796delinsACTT
c.5762_5765delinsACTT (p.Asp1921=)
c.5870_5873delinsACTT (p.Asp1957=)
c.5873_5876delinsACTT (p.Asp1958=)
c.5846_5849delinsACTT (p.Asp1949=)
c.5783_5786delinsACTT (p.Asp1928=)
c.5654_5657delinsACTT (p.Asp1885=)
c.5642_5645delinsACTT (p.Asp1881=)
c.5615_5618delinsACTT (p.Asp1872=)
n.6199_6202delinsACTT
c.5969_5972delinsACTT (p.Asp1990=)
c.5963_5966delinsACTT (p.Asp1988=)
c.5960_5963delinsACTT (p.Asp1987=)
c.5855_5858delinsACTT (p.Asp1952=)
c.5852_5855delinsACTT (p.Asp1951=)
n.5984_5987delinsACTT
n.5899_5902delinsACTT
n.5970_5973delinsACTT
11g.77208453C>ACA381932600MYO7Ac.5880C>A (p.Asp1960Glu)
c.3707C>A
c.5733C>A (p.Asp1911Glu)
c.3306C>A (p.Asp1102Glu)
c.5766C>A (p.Asp1922Glu)
n.3416C>A
n.794C>A
c.5763C>A (p.Asp1921Glu)
c.5871C>A (p.Asp1957Glu)
c.5874C>A (p.Asp1958Glu)
c.5847C>A (p.Asp1949Glu)
c.5784C>A (p.Asp1928Glu)
c.5655C>A (p.Asp1885Glu)
c.5643C>A (p.Asp1881Glu)
c.5616C>A (p.Asp1872Glu)
n.6200C>A
c.5970C>A (p.Asp1990Glu)
c.5964C>A (p.Asp1988Glu)
c.5961C>A (p.Asp1987Glu)
c.5856C>A (p.Asp1952Glu)
c.5853C>A (p.Asp1951Glu)
n.5985C>A
n.5900C>A
n.5971C>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.77208453C=CA1984128431MYO7Ac.5880C= (p.Asp1960=)
c.3707C=
c.5733C= (p.Asp1911=)
c.3306C= (p.Asp1102=)
c.5766C= (p.Asp1922=)
n.3416C=
n.794C=
c.5763C= (p.Asp1921=)
c.5871C= (p.Asp1957=)
c.5874C= (p.Asp1958=)
c.5847C= (p.Asp1949=)
c.5784C= (p.Asp1928=)
c.5655C= (p.Asp1885=)
c.5643C= (p.Asp1881=)
c.5616C= (p.Asp1872=)
n.6200C=
c.5970C= (p.Asp1990=)
c.5964C= (p.Asp1988=)
c.5961C= (p.Asp1987=)
c.5856C= (p.Asp1952=)
c.5853C= (p.Asp1951=)
n.5985C=
n.5900C=
n.5971C=
11g.77208453C>GCA381932598MYO7Ac.5880C>G (p.Asp1960Glu)
c.3707C>G
c.5733C>G (p.Asp1911Glu)
c.3306C>G (p.Asp1102Glu)
c.5766C>G (p.Asp1922Glu)
n.3416C>G
n.794C>G
c.5763C>G (p.Asp1921Glu)
c.5871C>G (p.Asp1957Glu)
c.5874C>G (p.Asp1958Glu)
c.5847C>G (p.Asp1949Glu)
c.5784C>G (p.Asp1928Glu)
c.5655C>G (p.Asp1885Glu)
c.5643C>G (p.Asp1881Glu)
c.5616C>G (p.Asp1872Glu)
n.6200C>G
c.5970C>G (p.Asp1990Glu)
c.5964C>G (p.Asp1988Glu)
c.5961C>G (p.Asp1987Glu)
c.5856C>G (p.Asp1952Glu)
c.5853C>G (p.Asp1951Glu)
n.5985C>G
n.5900C>G
n.5971C>G
11g.77208453C>TCA475791580MYO7Ac.5880C>T (p.Asp1960=)
c.3707C>T
c.5733C>T (p.Asp1911=)
c.3306C>T (p.Asp1102=)
c.5766C>T (p.Asp1922=)
n.3416C>T
n.794C>T
c.5763C>T (p.Asp1921=)
c.5871C>T (p.Asp1957=)
c.5874C>T (p.Asp1958=)
c.5847C>T (p.Asp1949=)
c.5784C>T (p.Asp1928=)
c.5655C>T (p.Asp1885=)
c.5643C>T (p.Asp1881=)
c.5616C>T (p.Asp1872=)
n.6200C>T
c.5970C>T (p.Asp1990=)
c.5964C>T (p.Asp1988=)
c.5961C>T (p.Asp1987=)
c.5856C>T (p.Asp1952=)
c.5853C>T (p.Asp1951=)
n.5985C>T
n.5900C>T
n.5971C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77208459_77208461delCA278698MYO7Ac.5886_5888del (p.Phe1963del)
c.3713_3715del
c.5739_5741del (p.Phe1914del)
c.3312_3314del (p.Phe1105del)
c.5772_5774del (p.Phe1925del)
n.3422_3424del
n.800_802del
c.5769_5771del (p.Phe1924del)
c.5877_5879del (p.Phe1960del)
c.5880_5882del (p.Phe1961del)
c.5853_5855del (p.Phe1952del)
c.5790_5792del (p.Phe1931del)
c.5661_5663del (p.Phe1888del)
c.5649_5651del (p.Phe1884del)
c.5622_5624del (p.Phe1875del)
n.6206_6208del
c.5976_5978del (p.Phe1993del)
c.5970_5972del (p.Phe1991del)
c.5967_5969del (p.Phe1990del)
c.5862_5864del (p.Phe1955del)
c.5859_5861del (p.Phe1954del)
n.5991_5993del
n.5906_5908del
n.5977_5979del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.77208454T>ACA381932603MYO7Ac.5881T>A (p.Phe1961Ile)
c.3708T>A
c.5734T>A (p.Phe1912Ile)
c.3307T>A (p.Phe1103Ile)
c.5767T>A (p.Phe1923Ile)
n.3417T>A
n.795T>A
c.5764T>A (p.Phe1922Ile)
c.5872T>A (p.Phe1958Ile)
c.5875T>A (p.Phe1959Ile)
c.5848T>A (p.Phe1950Ile)
c.5785T>A (p.Phe1929Ile)
c.5656T>A (p.Phe1886Ile)
c.5644T>A (p.Phe1882Ile)
c.5617T>A (p.Phe1873Ile)
n.6201T>A
c.5971T>A (p.Phe1991Ile)
c.5965T>A (p.Phe1989Ile)
c.5962T>A (p.Phe1988Ile)
c.5857T>A (p.Phe1953Ile)
c.5854T>A (p.Phe1952Ile)
n.5986T>A
n.5901T>A
n.5972T>A
11g.77208454T>CCA381932608MYO7Ac.5881T>C (p.Phe1961Leu)
c.3708T>C
c.5734T>C (p.Phe1912Leu)
c.3307T>C (p.Phe1103Leu)
c.5767T>C (p.Phe1923Leu)
n.3417T>C
n.795T>C
c.5764T>C (p.Phe1922Leu)
c.5872T>C (p.Phe1958Leu)
c.5875T>C (p.Phe1959Leu)
c.5848T>C (p.Phe1950Leu)
c.5785T>C (p.Phe1929Leu)
c.5656T>C (p.Phe1886Leu)
c.5644T>C (p.Phe1882Leu)
c.5617T>C (p.Phe1873Leu)
n.6201T>C
c.5971T>C (p.Phe1991Leu)
c.5965T>C (p.Phe1989Leu)
c.5962T>C (p.Phe1988Leu)
c.5857T>C (p.Phe1953Leu)
c.5854T>C (p.Phe1952Leu)
n.5986T>C
n.5901T>C
n.5972T>C
11g.77208454T>GCA381932605MYO7Ac.5881T>G (p.Phe1961Val)
c.3708T>G
c.5734T>G (p.Phe1912Val)
c.3307T>G (p.Phe1103Val)
c.5767T>G (p.Phe1923Val)
n.3417T>G
n.795T>G
c.5764T>G (p.Phe1922Val)
c.5872T>G (p.Phe1958Val)
c.5875T>G (p.Phe1959Val)
c.5848T>G (p.Phe1950Val)
c.5785T>G (p.Phe1929Val)
c.5656T>G (p.Phe1886Val)
c.5644T>G (p.Phe1882Val)
c.5617T>G (p.Phe1873Val)
n.6201T>G
c.5971T>G (p.Phe1991Val)
c.5965T>G (p.Phe1989Val)
c.5962T>G (p.Phe1988Val)
c.5857T>G (p.Phe1953Val)
c.5854T>G (p.Phe1952Val)
n.5986T>G
n.5901T>G
n.5972T>G
gnomAD v4
11g.77208455T>ACA381932611MYO7Ac.5882T>A (p.Phe1961Tyr)
c.3709T>A
c.5735T>A (p.Phe1912Tyr)
c.3308T>A (p.Phe1103Tyr)
c.5768T>A (p.Phe1923Tyr)
n.3418T>A
n.796T>A
c.5765T>A (p.Phe1922Tyr)
c.5873T>A (p.Phe1958Tyr)
c.5876T>A (p.Phe1959Tyr)
c.5849T>A (p.Phe1950Tyr)
c.5786T>A (p.Phe1929Tyr)
c.5657T>A (p.Phe1886Tyr)
c.5645T>A (p.Phe1882Tyr)
c.5618T>A (p.Phe1873Tyr)
n.6202T>A
c.5972T>A (p.Phe1991Tyr)
c.5966T>A (p.Phe1989Tyr)
c.5963T>A (p.Phe1988Tyr)
c.5858T>A (p.Phe1953Tyr)
c.5855T>A (p.Phe1952Tyr)
n.5987T>A
n.5902T>A
n.5973T>A
ClinVar dbSNP gnomAD v4
11g.77208455T>CCA381932613MYO7Ac.5882T>C (p.Phe1961Ser)
c.3709T>C
c.5735T>C (p.Phe1912Ser)
c.3308T>C (p.Phe1103Ser)
c.5768T>C (p.Phe1923Ser)
n.3418T>C
n.796T>C
c.5765T>C (p.Phe1922Ser)
c.5873T>C (p.Phe1958Ser)
c.5876T>C (p.Phe1959Ser)
c.5849T>C (p.Phe1950Ser)
c.5786T>C (p.Phe1929Ser)
c.5657T>C (p.Phe1886Ser)
c.5645T>C (p.Phe1882Ser)
c.5618T>C (p.Phe1873Ser)
n.6202T>C
c.5972T>C (p.Phe1991Ser)
c.5966T>C (p.Phe1989Ser)
c.5963T>C (p.Phe1988Ser)
c.5858T>C (p.Phe1953Ser)
c.5855T>C (p.Phe1952Ser)
n.5987T>C
n.5902T>C
n.5973T>C
11g.77208455T>GCA381932615MYO7Ac.5882T>G (p.Phe1961Cys)
c.3709T>G
c.5735T>G (p.Phe1912Cys)
c.3308T>G (p.Phe1103Cys)
c.5768T>G (p.Phe1923Cys)
n.3418T>G
n.796T>G
c.5765T>G (p.Phe1922Cys)
c.5873T>G (p.Phe1958Cys)
c.5876T>G (p.Phe1959Cys)
c.5849T>G (p.Phe1950Cys)
c.5786T>G (p.Phe1929Cys)
c.5657T>G (p.Phe1886Cys)
c.5645T>G (p.Phe1882Cys)
c.5618T>G (p.Phe1873Cys)
n.6202T>G
c.5972T>G (p.Phe1991Cys)
c.5966T>G (p.Phe1989Cys)
c.5963T>G (p.Phe1988Cys)
c.5858T>G (p.Phe1953Cys)
c.5855T>G (p.Phe1952Cys)
n.5987T>G
n.5902T>G
n.5973T>G
11g.77208456_77208460delCA912973141MYO7Ac.5883_5887del (p.Phe1962Ter)
c.3710_3714del
c.5736_5740del (p.Phe1913Ter)
c.3309_3313del (p.Phe1104Ter)
c.5769_5773del (p.Phe1924Ter)
n.3419_3423del
n.797_801del
c.5766_5770del (p.Phe1923Ter)
c.5874_5878del (p.Phe1959Ter)
c.5877_5881del (p.Phe1960Ter)
c.5850_5854del (p.Phe1951Ter)
c.5787_5791del (p.Phe1930Ter)
c.5658_5662del (p.Phe1887Ter)
c.5646_5650del (p.Phe1883Ter)
c.5619_5623del (p.Phe1874Ter)
n.6203_6207del
c.5973_5977del (p.Phe1992Ter)
c.5967_5971del (p.Phe1990Ter)
c.5964_5968del (p.Phe1989Ter)
c.5859_5863del (p.Phe1954Ter)
c.5856_5860del (p.Phe1953Ter)
n.5988_5992del
n.5903_5907del
n.5974_5978del
11g.77208456C>ACA381932618MYO7Ac.5883C>A (p.Phe1961Leu)
c.3710C>A
c.5736C>A (p.Phe1912Leu)
c.3309C>A (p.Phe1103Leu)
c.5769C>A (p.Phe1923Leu)
n.3419C>A
n.797C>A
c.5766C>A (p.Phe1922Leu)
c.5874C>A (p.Phe1958Leu)
c.5877C>A (p.Phe1959Leu)
c.5850C>A (p.Phe1950Leu)
c.5787C>A (p.Phe1929Leu)
c.5658C>A (p.Phe1886Leu)
c.5646C>A (p.Phe1882Leu)
c.5619C>A (p.Phe1873Leu)
n.6203C>A
c.5973C>A (p.Phe1991Leu)
c.5967C>A (p.Phe1989Leu)
c.5964C>A (p.Phe1988Leu)
c.5859C>A (p.Phe1953Leu)
c.5856C>A (p.Phe1952Leu)
n.5988C>A
n.5903C>A
n.5974C>A
11g.77208456C=CA1984128432MYO7Ac.5883C= (p.Phe1961=)
c.3710C=
c.5736C= (p.Phe1912=)
c.3309C= (p.Phe1103=)
c.5769C= (p.Phe1923=)
n.3419C=
n.797C=
c.5766C= (p.Phe1922=)
c.5874C= (p.Phe1958=)
c.5877C= (p.Phe1959=)
c.5850C= (p.Phe1950=)
c.5787C= (p.Phe1929=)
c.5658C= (p.Phe1886=)
c.5646C= (p.Phe1882=)
c.5619C= (p.Phe1873=)
n.6203C=
c.5973C= (p.Phe1991=)
c.5967C= (p.Phe1989=)
c.5964C= (p.Phe1988=)
c.5859C= (p.Phe1953=)
c.5856C= (p.Phe1952=)
n.5988C=
n.5903C=
n.5974C=
11g.77208456C>GCA381932619MYO7Ac.5883C>G (p.Phe1961Leu)
c.3710C>G
c.5736C>G (p.Phe1912Leu)
c.3309C>G (p.Phe1103Leu)
c.5769C>G (p.Phe1923Leu)
n.3419C>G
n.797C>G
c.5766C>G (p.Phe1922Leu)
c.5874C>G (p.Phe1958Leu)
c.5877C>G (p.Phe1959Leu)
c.5850C>G (p.Phe1950Leu)
c.5787C>G (p.Phe1929Leu)
c.5658C>G (p.Phe1886Leu)
c.5646C>G (p.Phe1882Leu)
c.5619C>G (p.Phe1873Leu)
n.6203C>G
c.5973C>G (p.Phe1991Leu)
c.5967C>G (p.Phe1989Leu)
c.5964C>G (p.Phe1988Leu)
c.5859C>G (p.Phe1953Leu)
c.5856C>G (p.Phe1952Leu)
n.5988C>G
n.5903C>G
n.5974C>G
11g.77208456C>TCA475791582MYO7Ac.5883C>T (p.Phe1961=)
c.3710C>T
c.5736C>T (p.Phe1912=)
c.3309C>T (p.Phe1103=)
c.5769C>T (p.Phe1923=)
n.3419C>T
n.797C>T
c.5766C>T (p.Phe1922=)
c.5874C>T (p.Phe1958=)
c.5877C>T (p.Phe1959=)
c.5850C>T (p.Phe1950=)
c.5787C>T (p.Phe1929=)
c.5658C>T (p.Phe1886=)
c.5646C>T (p.Phe1882=)
c.5619C>T (p.Phe1873=)
n.6203C>T
c.5973C>T (p.Phe1991=)
c.5967C>T (p.Phe1989=)
c.5964C>T (p.Phe1988=)
c.5859C>T (p.Phe1953=)
c.5856C>T (p.Phe1952=)
n.5988C>T
n.5903C>T
n.5974C>T
ClinVar dbSNP
11g.77208456_77208460delinsCTTCTCA1984128433MYO7Ac.5883_5887delinsCTTCT (p.Phe1961=)
c.3710_3714delinsCTTCT
c.5736_5740delinsCTTCT (p.Phe1912=)
c.3309_3313delinsCTTCT (p.Phe1103=)
c.5769_5773delinsCTTCT (p.Phe1923=)
n.3419_3423delinsCTTCT
n.797_801delinsCTTCT
c.5766_5770delinsCTTCT (p.Phe1922=)
c.5874_5878delinsCTTCT (p.Phe1958=)
c.5877_5881delinsCTTCT (p.Phe1959=)
c.5850_5854delinsCTTCT (p.Phe1950=)
c.5787_5791delinsCTTCT (p.Phe1929=)
c.5658_5662delinsCTTCT (p.Phe1886=)
c.5646_5650delinsCTTCT (p.Phe1882=)
c.5619_5623delinsCTTCT (p.Phe1873=)
n.6203_6207delinsCTTCT
c.5973_5977delinsCTTCT (p.Phe1991=)
c.5967_5971delinsCTTCT (p.Phe1989=)
c.5964_5968delinsCTTCT (p.Phe1988=)
c.5859_5863delinsCTTCT (p.Phe1953=)
c.5856_5860delinsCTTCT (p.Phe1952=)
n.5988_5992delinsCTTCT
n.5903_5907delinsCTTCT
n.5974_5978delinsCTTCT
11g.77208457T>ACA381932625MYO7Ac.5884T>A (p.Phe1962Ile)
c.3711T>A
c.5737T>A (p.Phe1913Ile)
c.3310T>A (p.Phe1104Ile)
c.5770T>A (p.Phe1924Ile)
n.3420T>A
n.798T>A
c.5767T>A (p.Phe1923Ile)
c.5875T>A (p.Phe1959Ile)
c.5878T>A (p.Phe1960Ile)
c.5851T>A (p.Phe1951Ile)
c.5788T>A (p.Phe1930Ile)
c.5659T>A (p.Phe1887Ile)
c.5647T>A (p.Phe1883Ile)
c.5620T>A (p.Phe1874Ile)
n.6204T>A
c.5974T>A (p.Phe1992Ile)
c.5968T>A (p.Phe1990Ile)
c.5965T>A (p.Phe1989Ile)
c.5860T>A (p.Phe1954Ile)
c.5857T>A (p.Phe1953Ile)
n.5989T>A
n.5904T>A
n.5975T>A
11g.77208457T>CCA381932623MYO7Ac.5884T>C (p.Phe1962Leu)
c.3711T>C
c.5737T>C (p.Phe1913Leu)
c.3310T>C (p.Phe1104Leu)
c.5770T>C (p.Phe1924Leu)
n.3420T>C
n.798T>C
c.5767T>C (p.Phe1923Leu)
c.5875T>C (p.Phe1959Leu)
c.5878T>C (p.Phe1960Leu)
c.5851T>C (p.Phe1951Leu)
c.5788T>C (p.Phe1930Leu)
c.5659T>C (p.Phe1887Leu)
c.5647T>C (p.Phe1883Leu)
c.5620T>C (p.Phe1874Leu)
n.6204T>C
c.5974T>C (p.Phe1992Leu)
c.5968T>C (p.Phe1990Leu)
c.5965T>C (p.Phe1989Leu)
c.5860T>C (p.Phe1954Leu)
c.5857T>C (p.Phe1953Leu)
n.5989T>C
n.5904T>C
n.5975T>C
11g.77208457T>GCA381932621MYO7Ac.5884T>G (p.Phe1962Val)
c.3711T>G
c.5737T>G (p.Phe1913Val)
c.3310T>G (p.Phe1104Val)
c.5770T>G (p.Phe1924Val)
n.3420T>G
n.798T>G
c.5767T>G (p.Phe1923Val)
c.5875T>G (p.Phe1959Val)
c.5878T>G (p.Phe1960Val)
c.5851T>G (p.Phe1951Val)
c.5788T>G (p.Phe1930Val)
c.5659T>G (p.Phe1887Val)
c.5647T>G (p.Phe1883Val)
c.5620T>G (p.Phe1874Val)
n.6204T>G
c.5974T>G (p.Phe1992Val)
c.5968T>G (p.Phe1990Val)
c.5965T>G (p.Phe1989Val)
c.5860T>G (p.Phe1954Val)
c.5857T>G (p.Phe1953Val)
n.5989T>G
n.5904T>G
n.5975T>G
11g.77208459_77208462delCA600710876MYO7Ac.5886_5889del (p.Phe1962LeufsTer7)
c.3713_3716del
c.5739_5742del (p.Phe1913LeufsTer7)
c.3312_3315del (p.Phe1104LeufsTer7)
c.5772_5775del (p.Phe1924LeufsTer7)
n.3422_3425del
n.800_803del
c.5769_5772del (p.Phe1923LeufsTer7)
c.5877_5880del (p.Phe1959LeufsTer7)
c.5880_5883del (p.Phe1960LeufsTer7)
c.5853_5856del (p.Phe1951LeufsTer7)
c.5790_5793del (p.Phe1930LeufsTer7)
c.5661_5664del (p.Phe1887LeufsTer7)
c.5649_5652del (p.Phe1883LeufsTer7)
c.5622_5625del (p.Phe1874LeufsTer7)
n.6206_6209del
c.5976_5979del (p.Phe1992LeufsTer7)
c.5970_5973del (p.Phe1990LeufsTer7)
c.5967_5970del (p.Phe1989LeufsTer7)
c.5862_5865del (p.Phe1954LeufsTer7)
c.5859_5862del (p.Phe1953LeufsTer7)
n.5991_5994del
n.5906_5909del
n.5977_5980del
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77208458T>ACA381932628MYO7Ac.5885T>A (p.Phe1962Tyr)
c.3712T>A
c.5738T>A (p.Phe1913Tyr)
c.3311T>A (p.Phe1104Tyr)
c.5771T>A (p.Phe1924Tyr)
n.3421T>A
n.799T>A
c.5768T>A (p.Phe1923Tyr)
c.5876T>A (p.Phe1959Tyr)
c.5879T>A (p.Phe1960Tyr)
c.5852T>A (p.Phe1951Tyr)
c.5789T>A (p.Phe1930Tyr)
c.5660T>A (p.Phe1887Tyr)
c.5648T>A (p.Phe1883Tyr)
c.5621T>A (p.Phe1874Tyr)
n.6205T>A
c.5975T>A (p.Phe1992Tyr)
c.5969T>A (p.Phe1990Tyr)
c.5966T>A (p.Phe1989Tyr)
c.5861T>A (p.Phe1954Tyr)
c.5858T>A (p.Phe1953Tyr)
n.5990T>A
n.5905T>A
n.5976T>A
11g.77208458T>CCA381932630MYO7Ac.5885T>C (p.Phe1962Ser)
c.3712T>C
c.5738T>C (p.Phe1913Ser)
c.3311T>C (p.Phe1104Ser)
c.5771T>C (p.Phe1924Ser)
n.3421T>C
n.799T>C
c.5768T>C (p.Phe1923Ser)
c.5876T>C (p.Phe1959Ser)
c.5879T>C (p.Phe1960Ser)
c.5852T>C (p.Phe1951Ser)
c.5789T>C (p.Phe1930Ser)
c.5660T>C (p.Phe1887Ser)
c.5648T>C (p.Phe1883Ser)
c.5621T>C (p.Phe1874Ser)
n.6205T>C
c.5975T>C (p.Phe1992Ser)
c.5969T>C (p.Phe1990Ser)
c.5966T>C (p.Phe1989Ser)
c.5861T>C (p.Phe1954Ser)
c.5858T>C (p.Phe1953Ser)
n.5990T>C
n.5905T>C
n.5976T>C
gnomAD v4
11g.77208458T>GCA381932632MYO7Ac.5885T>G (p.Phe1962Cys)
c.3712T>G
c.5738T>G (p.Phe1913Cys)
c.3311T>G (p.Phe1104Cys)
c.5771T>G (p.Phe1924Cys)
n.3421T>G
n.799T>G
c.5768T>G (p.Phe1923Cys)
c.5876T>G (p.Phe1959Cys)
c.5879T>G (p.Phe1960Cys)
c.5852T>G (p.Phe1951Cys)
c.5789T>G (p.Phe1930Cys)
c.5660T>G (p.Phe1887Cys)
c.5648T>G (p.Phe1883Cys)
c.5621T>G (p.Phe1874Cys)
n.6205T>G
c.5975T>G (p.Phe1992Cys)
c.5969T>G (p.Phe1990Cys)
c.5966T>G (p.Phe1989Cys)
c.5861T>G (p.Phe1954Cys)
c.5858T>G (p.Phe1953Cys)
n.5990T>G
n.5905T>G
n.5976T>G
11g.77208459C>ACA381932634MYO7Ac.5886C>A (p.Phe1962Leu)
c.3713C>A
c.5739C>A (p.Phe1913Leu)
c.3312C>A (p.Phe1104Leu)
c.5772C>A (p.Phe1924Leu)
n.3422C>A
n.800C>A
c.5769C>A (p.Phe1923Leu)
c.5877C>A (p.Phe1959Leu)
c.5880C>A (p.Phe1960Leu)
c.5853C>A (p.Phe1951Leu)
c.5790C>A (p.Phe1930Leu)
c.5661C>A (p.Phe1887Leu)
c.5649C>A (p.Phe1883Leu)
c.5622C>A (p.Phe1874Leu)
n.6206C>A
c.5976C>A (p.Phe1992Leu)
c.5970C>A (p.Phe1990Leu)
c.5967C>A (p.Phe1989Leu)
c.5862C>A (p.Phe1954Leu)
c.5859C>A (p.Phe1953Leu)
n.5991C>A
n.5906C>A
n.5977C>A
gnomAD v4
11g.77208459C>GCA381932636MYO7Ac.5886C>G (p.Phe1962Leu)
c.3713C>G
c.5739C>G (p.Phe1913Leu)
c.3312C>G (p.Phe1104Leu)
c.5772C>G (p.Phe1924Leu)
n.3422C>G
n.800C>G
c.5769C>G (p.Phe1923Leu)
c.5877C>G (p.Phe1959Leu)
c.5880C>G (p.Phe1960Leu)
c.5853C>G (p.Phe1951Leu)
c.5790C>G (p.Phe1930Leu)
c.5661C>G (p.Phe1887Leu)
c.5649C>G (p.Phe1883Leu)
c.5622C>G (p.Phe1874Leu)
n.6206C>G
c.5976C>G (p.Phe1992Leu)
c.5970C>G (p.Phe1990Leu)
c.5967C>G (p.Phe1989Leu)
c.5862C>G (p.Phe1954Leu)
c.5859C>G (p.Phe1953Leu)
n.5991C>G
n.5906C>G
n.5977C>G
11g.77208459C>TCA475791584MYO7Ac.5886C>T (p.Phe1962=)
c.3713C>T
c.5739C>T (p.Phe1913=)
c.3312C>T (p.Phe1104=)
c.5772C>T (p.Phe1924=)
n.3422C>T
n.800C>T
c.5769C>T (p.Phe1923=)
c.5877C>T (p.Phe1959=)
c.5880C>T (p.Phe1960=)
c.5853C>T (p.Phe1951=)
c.5790C>T (p.Phe1930=)
c.5661C>T (p.Phe1887=)
c.5649C>T (p.Phe1883=)
c.5622C>T (p.Phe1874=)
n.6206C>T
c.5976C>T (p.Phe1992=)
c.5970C>T (p.Phe1990=)
c.5967C>T (p.Phe1989=)
c.5862C>T (p.Phe1954=)
c.5859C>T (p.Phe1953=)
n.5991C>T
n.5906C>T
n.5977C>T
COSMIC
11g.77208459_77208462delinsCTTTCA1984128434MYO7Ac.5886_5889delinsCTTT (p.Phe1962=)
c.3713_3716delinsCTTT
c.5739_5742delinsCTTT (p.Phe1913=)
c.3312_3315delinsCTTT (p.Phe1104=)
c.5772_5775delinsCTTT (p.Phe1924=)
n.3422_3425delinsCTTT
n.800_803delinsCTTT
c.5769_5772delinsCTTT (p.Phe1923=)
c.5877_5880delinsCTTT (p.Phe1959=)
c.5880_5883delinsCTTT (p.Phe1960=)
c.5853_5856delinsCTTT (p.Phe1951=)
c.5790_5793delinsCTTT (p.Phe1930=)
c.5661_5664delinsCTTT (p.Phe1887=)
c.5649_5652delinsCTTT (p.Phe1883=)
c.5622_5625delinsCTTT (p.Phe1874=)
n.6206_6209delinsCTTT
c.5976_5979delinsCTTT (p.Phe1992=)
c.5970_5973delinsCTTT (p.Phe1990=)
c.5967_5970delinsCTTT (p.Phe1989=)
c.5862_5865delinsCTTT (p.Phe1954=)
c.5859_5862delinsCTTT (p.Phe1953=)
n.5991_5994delinsCTTT
n.5906_5909delinsCTTT
n.5977_5980delinsCTTT
11g.77208460T>ACA381932639MYO7Ac.5887T>A (p.Phe1963Ile)
c.3714T>A
c.5740T>A (p.Phe1914Ile)
c.3313T>A (p.Phe1105Ile)
c.5773T>A (p.Phe1925Ile)
n.3423T>A
n.801T>A
c.5770T>A (p.Phe1924Ile)
c.5878T>A (p.Phe1960Ile)
c.5881T>A (p.Phe1961Ile)
c.5854T>A (p.Phe1952Ile)
c.5791T>A (p.Phe1931Ile)
c.5662T>A (p.Phe1888Ile)
c.5650T>A (p.Phe1884Ile)
c.5623T>A (p.Phe1875Ile)
n.6207T>A
c.5977T>A (p.Phe1993Ile)
c.5971T>A (p.Phe1991Ile)
c.5968T>A (p.Phe1990Ile)
c.5863T>A (p.Phe1955Ile)
c.5860T>A (p.Phe1954Ile)
n.5992T>A
n.5907T>A
n.5978T>A
11g.77208460T>CCA381932643MYO7Ac.5887T>C (p.Phe1963Leu)
c.3714T>C
c.5740T>C (p.Phe1914Leu)
c.3313T>C (p.Phe1105Leu)
c.5773T>C (p.Phe1925Leu)
n.3423T>C
n.801T>C
c.5770T>C (p.Phe1924Leu)
c.5878T>C (p.Phe1960Leu)
c.5881T>C (p.Phe1961Leu)
c.5854T>C (p.Phe1952Leu)
c.5791T>C (p.Phe1931Leu)
c.5662T>C (p.Phe1888Leu)
c.5650T>C (p.Phe1884Leu)
c.5623T>C (p.Phe1875Leu)
n.6207T>C
c.5977T>C (p.Phe1993Leu)
c.5971T>C (p.Phe1991Leu)
c.5968T>C (p.Phe1990Leu)
c.5863T>C (p.Phe1955Leu)
c.5860T>C (p.Phe1954Leu)
n.5992T>C
n.5907T>C
n.5978T>C
11g.77208460T>GCA381932641MYO7Ac.5887T>G (p.Phe1963Val)
c.3714T>G
c.5740T>G (p.Phe1914Val)
c.3313T>G (p.Phe1105Val)
c.5773T>G (p.Phe1925Val)
n.3423T>G
n.801T>G
c.5770T>G (p.Phe1924Val)
c.5878T>G (p.Phe1960Val)
c.5881T>G (p.Phe1961Val)
c.5854T>G (p.Phe1952Val)
c.5791T>G (p.Phe1931Val)
c.5662T>G (p.Phe1888Val)
c.5650T>G (p.Phe1884Val)
c.5623T>G (p.Phe1875Val)
n.6207T>G
c.5977T>G (p.Phe1993Val)
c.5971T>G (p.Phe1991Val)
c.5968T>G (p.Phe1990Val)
c.5863T>G (p.Phe1955Val)
c.5860T>G (p.Phe1954Val)
n.5992T>G
n.5907T>G
n.5978T>G
11g.77208460_77208462delCA224825214MYO7Ac.5887_5889del (p.Phe1963del)
c.3714_3716del
c.5740_5742del (p.Phe1914del)
c.3313_3315del (p.Phe1105del)
c.5773_5775del (p.Phe1925del)
n.3423_3425del
n.801_803del
c.5770_5772del (p.Phe1924del)
c.5878_5880del (p.Phe1960del)
c.5881_5883del (p.Phe1961del)
c.5854_5856del (p.Phe1952del)
c.5791_5793del (p.Phe1931del)
c.5662_5664del (p.Phe1888del)
c.5650_5652del (p.Phe1884del)
c.5623_5625del (p.Phe1875del)
n.6207_6209del
c.5977_5979del (p.Phe1993del)
c.5971_5973del (p.Phe1991del)
c.5968_5970del (p.Phe1990del)
c.5863_5865del (p.Phe1955del)
c.5860_5862del (p.Phe1954del)
n.5992_5994del
n.5907_5909del
n.5978_5980del
ClinVar dbSNP gnomAD v4
11g.77208461T>ACA381932646MYO7Ac.5888T>A (p.Phe1963Tyr)
c.3715T>A
c.5741T>A (p.Phe1914Tyr)
c.3314T>A (p.Phe1105Tyr)
c.5774T>A (p.Phe1925Tyr)
n.3424T>A
n.802T>A
c.5771T>A (p.Phe1924Tyr)
c.5879T>A (p.Phe1960Tyr)
c.5882T>A (p.Phe1961Tyr)
c.5855T>A (p.Phe1952Tyr)
c.5792T>A (p.Phe1931Tyr)
c.5663T>A (p.Phe1888Tyr)
c.5651T>A (p.Phe1884Tyr)
c.5624T>A (p.Phe1875Tyr)
n.6208T>A
c.5978T>A (p.Phe1993Tyr)
c.5972T>A (p.Phe1991Tyr)
c.5969T>A (p.Phe1990Tyr)
c.5864T>A (p.Phe1955Tyr)
c.5861T>A (p.Phe1954Tyr)
n.5993T>A
n.5908T>A
n.5979T>A
11g.77208461T>CCA381932648MYO7Ac.5888T>C (p.Phe1963Ser)
c.3715T>C
c.5741T>C (p.Phe1914Ser)
c.3314T>C (p.Phe1105Ser)
c.5774T>C (p.Phe1925Ser)
n.3424T>C
n.802T>C
c.5771T>C (p.Phe1924Ser)
c.5879T>C (p.Phe1960Ser)
c.5882T>C (p.Phe1961Ser)
c.5855T>C (p.Phe1952Ser)
c.5792T>C (p.Phe1931Ser)
c.5663T>C (p.Phe1888Ser)
c.5651T>C (p.Phe1884Ser)
c.5624T>C (p.Phe1875Ser)
n.6208T>C
c.5978T>C (p.Phe1993Ser)
c.5972T>C (p.Phe1991Ser)
c.5969T>C (p.Phe1990Ser)
c.5864T>C (p.Phe1955Ser)
c.5861T>C (p.Phe1954Ser)
n.5993T>C
n.5908T>C
n.5979T>C
11g.77208461T>GCA381932650MYO7Ac.5888T>G (p.Phe1963Cys)
c.3715T>G
c.5741T>G (p.Phe1914Cys)
c.3314T>G (p.Phe1105Cys)
c.5774T>G (p.Phe1925Cys)
n.3424T>G
n.802T>G
c.5771T>G (p.Phe1924Cys)
c.5879T>G (p.Phe1960Cys)
c.5882T>G (p.Phe1961Cys)
c.5855T>G (p.Phe1952Cys)
c.5792T>G (p.Phe1931Cys)
c.5663T>G (p.Phe1888Cys)
c.5651T>G (p.Phe1884Cys)
c.5624T>G (p.Phe1875Cys)
n.6208T>G
c.5978T>G (p.Phe1993Cys)
c.5972T>G (p.Phe1991Cys)
c.5969T>G (p.Phe1990Cys)
c.5864T>G (p.Phe1955Cys)
c.5861T>G (p.Phe1954Cys)
n.5993T>G
n.5908T>G
n.5979T>G
11g.77208462T>ACA381932653MYO7Ac.5889T>A (p.Phe1963Leu)
c.3716T>A
c.5742T>A (p.Phe1914Leu)
c.3315T>A (p.Phe1105Leu)
c.5775T>A (p.Phe1925Leu)
n.3425T>A
n.803T>A
c.5772T>A (p.Phe1924Leu)
c.5880T>A (p.Phe1960Leu)
c.5883T>A (p.Phe1961Leu)
c.5856T>A (p.Phe1952Leu)
c.5793T>A (p.Phe1931Leu)
c.5664T>A (p.Phe1888Leu)
c.5652T>A (p.Phe1884Leu)
c.5625T>A (p.Phe1875Leu)
n.6209T>A
c.5979T>A (p.Phe1993Leu)
c.5973T>A (p.Phe1991Leu)
c.5970T>A (p.Phe1990Leu)
c.5865T>A (p.Phe1955Leu)
c.5862T>A (p.Phe1954Leu)
n.5994T>A
n.5909T>A
n.5980T>A
11g.77208462T>CCA475791588MYO7Ac.5889T>C (p.Phe1963=)
c.3716T>C
c.5742T>C (p.Phe1914=)
c.3315T>C (p.Phe1105=)
c.5775T>C (p.Phe1925=)
n.3425T>C
n.803T>C
c.5772T>C (p.Phe1924=)
c.5880T>C (p.Phe1960=)
c.5883T>C (p.Phe1961=)
c.5856T>C (p.Phe1952=)
c.5793T>C (p.Phe1931=)
c.5664T>C (p.Phe1888=)
c.5652T>C (p.Phe1884=)
c.5625T>C (p.Phe1875=)
n.6209T>C
c.5979T>C (p.Phe1993=)
c.5973T>C (p.Phe1991=)
c.5970T>C (p.Phe1990=)
c.5865T>C (p.Phe1955=)
c.5862T>C (p.Phe1954=)
n.5994T>C
n.5909T>C
n.5980T>C
11g.77208462T>GCA381932655MYO7Ac.5889T>G (p.Phe1963Leu)
c.3716T>G
c.5742T>G (p.Phe1914Leu)
c.3315T>G (p.Phe1105Leu)
c.5775T>G (p.Phe1925Leu)
n.3425T>G
n.803T>G
c.5772T>G (p.Phe1924Leu)
c.5880T>G (p.Phe1960Leu)
c.5883T>G (p.Phe1961Leu)
c.5856T>G (p.Phe1952Leu)
c.5793T>G (p.Phe1931Leu)
c.5664T>G (p.Phe1888Leu)
c.5652T>G (p.Phe1884Leu)
c.5625T>G (p.Phe1875Leu)
n.6209T>G
c.5979T>G (p.Phe1993Leu)
c.5973T>G (p.Phe1991Leu)
c.5970T>G (p.Phe1990Leu)
c.5865T>G (p.Phe1955Leu)
c.5862T>G (p.Phe1954Leu)
n.5994T>G
n.5909T>G
n.5980T>G
11g.77208463G>ACA381932658MYO7Ac.5890G>A (p.Asp1964Asn)
c.3717G>A
c.5743G>A (p.Asp1915Asn)
c.3316G>A (p.Asp1106Asn)
c.5776G>A (p.Asp1926Asn)
n.3426G>A
n.804G>A
c.5773G>A (p.Asp1925Asn)
c.5881G>A (p.Asp1961Asn)
c.5884G>A (p.Asp1962Asn)
c.5857G>A (p.Asp1953Asn)
c.5794G>A (p.Asp1932Asn)
c.5665G>A (p.Asp1889Asn)
c.5653G>A (p.Asp1885Asn)
c.5626G>A (p.Asp1876Asn)
n.6210G>A
c.5980G>A (p.Asp1994Asn)
c.5974G>A (p.Asp1992Asn)
c.5971G>A (p.Asp1991Asn)
c.5866G>A (p.Asp1956Asn)
c.5863G>A (p.Asp1955Asn)
n.5995G>A
n.5910G>A
n.5981G>A
11g.77208463G>CCA381932660MYO7Ac.5890G>C (p.Asp1964His)
c.3717G>C
c.5743G>C (p.Asp1915His)
c.3316G>C (p.Asp1106His)
c.5776G>C (p.Asp1926His)
n.3426G>C
n.804G>C
c.5773G>C (p.Asp1925His)
c.5881G>C (p.Asp1961His)
c.5884G>C (p.Asp1962His)
c.5857G>C (p.Asp1953His)
c.5794G>C (p.Asp1932His)
c.5665G>C (p.Asp1889His)
c.5653G>C (p.Asp1885His)
c.5626G>C (p.Asp1876His)
n.6210G>C
c.5980G>C (p.Asp1994His)
c.5974G>C (p.Asp1992His)
c.5971G>C (p.Asp1991His)
c.5866G>C (p.Asp1956His)
c.5863G>C (p.Asp1955His)
n.5995G>C
n.5910G>C
n.5981G>C
11g.77208463G>TCA381932662MYO7Ac.5890G>T (p.Asp1964Tyr)
c.3717G>T
c.5743G>T (p.Asp1915Tyr)
c.3316G>T (p.Asp1106Tyr)
c.5776G>T (p.Asp1926Tyr)
n.3426G>T
n.804G>T
c.5773G>T (p.Asp1925Tyr)
c.5881G>T (p.Asp1961Tyr)
c.5884G>T (p.Asp1962Tyr)
c.5857G>T (p.Asp1953Tyr)
c.5794G>T (p.Asp1932Tyr)
c.5665G>T (p.Asp1889Tyr)
c.5653G>T (p.Asp1885Tyr)
c.5626G>T (p.Asp1876Tyr)
n.6210G>T
c.5980G>T (p.Asp1994Tyr)
c.5974G>T (p.Asp1992Tyr)
c.5971G>T (p.Asp1991Tyr)
c.5866G>T (p.Asp1956Tyr)
c.5863G>T (p.Asp1955Tyr)
n.5995G>T
n.5910G>T
n.5981G>T
gnomAD v4
11g.77208464A>CCA381932665MYO7Ac.5891A>C (p.Asp1964Ala)
c.3718A>C
c.5744A>C (p.Asp1915Ala)
c.3317A>C (p.Asp1106Ala)
c.5777A>C (p.Asp1926Ala)
n.3427A>C
n.805A>C
c.5774A>C (p.Asp1925Ala)
c.5882A>C (p.Asp1961Ala)
c.5885A>C (p.Asp1962Ala)
c.5858A>C (p.Asp1953Ala)
c.5795A>C (p.Asp1932Ala)
c.5666A>C (p.Asp1889Ala)
c.5654A>C (p.Asp1885Ala)
c.5627A>C (p.Asp1876Ala)
n.6211A>C
c.5981A>C (p.Asp1994Ala)
c.5975A>C (p.Asp1992Ala)
c.5972A>C (p.Asp1991Ala)
c.5867A>C (p.Asp1956Ala)
c.5864A>C (p.Asp1955Ala)
n.5996A>C
n.5911A>C
n.5982A>C
11g.77208464A>GCA381932667MYO7Ac.5891A>G (p.Asp1964Gly)
c.3718A>G
c.5744A>G (p.Asp1915Gly)
c.3317A>G (p.Asp1106Gly)
c.5777A>G (p.Asp1926Gly)
n.3427A>G
n.805A>G
c.5774A>G (p.Asp1925Gly)
c.5882A>G (p.Asp1961Gly)
c.5885A>G (p.Asp1962Gly)
c.5858A>G (p.Asp1953Gly)
c.5795A>G (p.Asp1932Gly)
c.5666A>G (p.Asp1889Gly)
c.5654A>G (p.Asp1885Gly)
c.5627A>G (p.Asp1876Gly)
n.6211A>G
c.5981A>G (p.Asp1994Gly)
c.5975A>G (p.Asp1992Gly)
c.5972A>G (p.Asp1991Gly)
c.5867A>G (p.Asp1956Gly)
c.5864A>G (p.Asp1955Gly)
n.5996A>G
n.5911A>G
n.5982A>G
11g.77208464A>TCA381932669MYO7Ac.5891A>T (p.Asp1964Val)
c.3718A>T
c.5744A>T (p.Asp1915Val)
c.3317A>T (p.Asp1106Val)
c.5777A>T (p.Asp1926Val)
n.3427A>T
n.805A>T
c.5774A>T (p.Asp1925Val)
c.5882A>T (p.Asp1961Val)
c.5885A>T (p.Asp1962Val)
c.5858A>T (p.Asp1953Val)
c.5795A>T (p.Asp1932Val)
c.5666A>T (p.Asp1889Val)
c.5654A>T (p.Asp1885Val)
c.5627A>T (p.Asp1876Val)
n.6211A>T
c.5981A>T (p.Asp1994Val)
c.5975A>T (p.Asp1992Val)
c.5972A>T (p.Asp1991Val)
c.5867A>T (p.Asp1956Val)
c.5864A>T (p.Asp1955Val)
n.5996A>T
n.5911A>T
n.5982A>T
11g.77208465C>ACA381932670MYO7Ac.5892C>A (p.Asp1964Glu)
c.3719C>A
c.5745C>A (p.Asp1915Glu)
c.3318C>A (p.Asp1106Glu)
c.5778C>A (p.Asp1926Glu)
n.3428C>A
n.806C>A
c.5775C>A (p.Asp1925Glu)
c.5883C>A (p.Asp1961Glu)
c.5886C>A (p.Asp1962Glu)
c.5859C>A (p.Asp1953Glu)
c.5796C>A (p.Asp1932Glu)
c.5667C>A (p.Asp1889Glu)
c.5655C>A (p.Asp1885Glu)
c.5628C>A (p.Asp1876Glu)
n.6212C>A
c.5982C>A (p.Asp1994Glu)
c.5976C>A (p.Asp1992Glu)
c.5973C>A (p.Asp1991Glu)
c.5868C>A (p.Asp1956Glu)
c.5865C>A (p.Asp1955Glu)
n.5997C>A
n.5912C>A
n.5983C>A
11g.77208465C=CA1984128435MYO7Ac.5892C= (p.Asp1964=)
c.3719C=
c.5745C= (p.Asp1915=)
c.3318C= (p.Asp1106=)
c.5778C= (p.Asp1926=)
n.3428C=
n.806C=
c.5775C= (p.Asp1925=)
c.5883C= (p.Asp1961=)
c.5886C= (p.Asp1962=)
c.5859C= (p.Asp1953=)
c.5796C= (p.Asp1932=)
c.5667C= (p.Asp1889=)
c.5655C= (p.Asp1885=)
c.5628C= (p.Asp1876=)
n.6212C=
c.5982C= (p.Asp1994=)
c.5976C= (p.Asp1992=)
c.5973C= (p.Asp1991=)
c.5868C= (p.Asp1956=)
c.5865C= (p.Asp1955=)
n.5997C=
n.5912C=
n.5983C=
11g.77208465C>GCA381932672MYO7Ac.5892C>G (p.Asp1964Glu)
c.3719C>G
c.5745C>G (p.Asp1915Glu)
c.3318C>G (p.Asp1106Glu)
c.5778C>G (p.Asp1926Glu)
n.3428C>G
n.806C>G
c.5775C>G (p.Asp1925Glu)
c.5883C>G (p.Asp1961Glu)
c.5886C>G (p.Asp1962Glu)
c.5859C>G (p.Asp1953Glu)
c.5796C>G (p.Asp1932Glu)
c.5667C>G (p.Asp1889Glu)
c.5655C>G (p.Asp1885Glu)
c.5628C>G (p.Asp1876Glu)
n.6212C>G
c.5982C>G (p.Asp1994Glu)
c.5976C>G (p.Asp1992Glu)
c.5973C>G (p.Asp1991Glu)
c.5868C>G (p.Asp1956Glu)
c.5865C>G (p.Asp1955Glu)
n.5997C>G
n.5912C>G
n.5983C>G
ClinVar dbSNP
11g.77208465C>TCA475791591MYO7Ac.5892C>T (p.Asp1964=)
c.3719C>T
c.5745C>T (p.Asp1915=)
c.3318C>T (p.Asp1106=)
c.5778C>T (p.Asp1926=)
n.3428C>T
n.806C>T
c.5775C>T (p.Asp1925=)
c.5883C>T (p.Asp1961=)
c.5886C>T (p.Asp1962=)
c.5859C>T (p.Asp1953=)
c.5796C>T (p.Asp1932=)
c.5667C>T (p.Asp1889=)
c.5655C>T (p.Asp1885=)
c.5628C>T (p.Asp1876=)
n.6212C>T
c.5982C>T (p.Asp1994=)
c.5976C>T (p.Asp1992=)
c.5973C>T (p.Asp1991=)
c.5868C>T (p.Asp1956=)
c.5865C>T (p.Asp1955=)
n.5997C>T
n.5912C>T
n.5983C>T
dbSNP gnomAD v2 gnomAD v4
11g.77208466T>ACA381932675MYO7Ac.5893T>A (p.Phe1965Ile)
c.3720T>A
c.5746T>A (p.Phe1916Ile)
c.3319T>A (p.Phe1107Ile)
c.5779T>A (p.Phe1927Ile)
n.3429T>A
n.807T>A
c.5776T>A (p.Phe1926Ile)
c.5884T>A (p.Phe1962Ile)
c.5887T>A (p.Phe1963Ile)
c.5860T>A (p.Phe1954Ile)
c.5797T>A (p.Phe1933Ile)
c.5668T>A (p.Phe1890Ile)
c.5656T>A (p.Phe1886Ile)
c.5629T>A (p.Phe1877Ile)
n.6213T>A
c.5983T>A (p.Phe1995Ile)
c.5977T>A (p.Phe1993Ile)
c.5974T>A (p.Phe1992Ile)
c.5869T>A (p.Phe1957Ile)
c.5866T>A (p.Phe1956Ile)
n.5998T>A
n.5913T>A
n.5984T>A
11g.77208466T>CCA381932677MYO7Ac.5893T>C (p.Phe1965Leu)
c.3720T>C
c.5746T>C (p.Phe1916Leu)
c.3319T>C (p.Phe1107Leu)
c.5779T>C (p.Phe1927Leu)
n.3429T>C
n.807T>C
c.5776T>C (p.Phe1926Leu)
c.5884T>C (p.Phe1962Leu)
c.5887T>C (p.Phe1963Leu)
c.5860T>C (p.Phe1954Leu)
c.5797T>C (p.Phe1933Leu)
c.5668T>C (p.Phe1890Leu)
c.5656T>C (p.Phe1886Leu)
c.5629T>C (p.Phe1877Leu)
n.6213T>C
c.5983T>C (p.Phe1995Leu)
c.5977T>C (p.Phe1993Leu)
c.5974T>C (p.Phe1992Leu)
c.5869T>C (p.Phe1957Leu)
c.5866T>C (p.Phe1956Leu)
n.5998T>C
n.5913T>C
n.5984T>C
11g.77208466T>GCA381932679MYO7Ac.5893T>G (p.Phe1965Val)
c.3720T>G
c.5746T>G (p.Phe1916Val)
c.3319T>G (p.Phe1107Val)
c.5779T>G (p.Phe1927Val)
n.3429T>G
n.807T>G
c.5776T>G (p.Phe1926Val)
c.5884T>G (p.Phe1962Val)
c.5887T>G (p.Phe1963Val)
c.5860T>G (p.Phe1954Val)
c.5797T>G (p.Phe1933Val)
c.5668T>G (p.Phe1890Val)
c.5656T>G (p.Phe1886Val)
c.5629T>G (p.Phe1877Val)
n.6213T>G
c.5983T>G (p.Phe1995Val)
c.5977T>G (p.Phe1993Val)
c.5974T>G (p.Phe1992Val)
c.5869T>G (p.Phe1957Val)
c.5866T>G (p.Phe1956Val)
n.5998T>G
n.5913T>G
n.5984T>G
11g.77208467T>ACA381932682MYO7Ac.5894T>A (p.Phe1965Tyr)
c.3721T>A
c.5747T>A (p.Phe1916Tyr)
c.3320T>A (p.Phe1107Tyr)
c.5780T>A (p.Phe1927Tyr)
n.3430T>A
n.808T>A
c.5777T>A (p.Phe1926Tyr)
c.5885T>A (p.Phe1962Tyr)
c.5888T>A (p.Phe1963Tyr)
c.5861T>A (p.Phe1954Tyr)
c.5798T>A (p.Phe1933Tyr)
c.5669T>A (p.Phe1890Tyr)
c.5657T>A (p.Phe1886Tyr)
c.5630T>A (p.Phe1877Tyr)
n.6214T>A
c.5984T>A (p.Phe1995Tyr)
c.5978T>A (p.Phe1993Tyr)
c.5975T>A (p.Phe1992Tyr)
c.5870T>A (p.Phe1957Tyr)
c.5867T>A (p.Phe1956Tyr)
n.5999T>A
n.5914T>A
n.5985T>A
11g.77208467T>CCA381932684MYO7Ac.5894T>C (p.Phe1965Ser)
c.3721T>C
c.5747T>C (p.Phe1916Ser)
c.3320T>C (p.Phe1107Ser)
c.5780T>C (p.Phe1927Ser)
n.3430T>C
n.808T>C
c.5777T>C (p.Phe1926Ser)
c.5885T>C (p.Phe1962Ser)
c.5888T>C (p.Phe1963Ser)
c.5861T>C (p.Phe1954Ser)
c.5798T>C (p.Phe1933Ser)
c.5669T>C (p.Phe1890Ser)
c.5657T>C (p.Phe1886Ser)
c.5630T>C (p.Phe1877Ser)
n.6214T>C
c.5984T>C (p.Phe1995Ser)
c.5978T>C (p.Phe1993Ser)
c.5975T>C (p.Phe1992Ser)
c.5870T>C (p.Phe1957Ser)
c.5867T>C (p.Phe1956Ser)
n.5999T>C
n.5914T>C
n.5985T>C
11g.77208467T>GCA381932686MYO7Ac.5894T>G (p.Phe1965Cys)
c.3721T>G
c.5747T>G (p.Phe1916Cys)
c.3320T>G (p.Phe1107Cys)
c.5780T>G (p.Phe1927Cys)
n.3430T>G
n.808T>G
c.5777T>G (p.Phe1926Cys)
c.5885T>G (p.Phe1962Cys)
c.5888T>G (p.Phe1963Cys)
c.5861T>G (p.Phe1954Cys)
c.5798T>G (p.Phe1933Cys)
c.5669T>G (p.Phe1890Cys)
c.5657T>G (p.Phe1886Cys)
c.5630T>G (p.Phe1877Cys)
n.6214T>G
c.5984T>G (p.Phe1995Cys)
c.5978T>G (p.Phe1993Cys)
c.5975T>G (p.Phe1992Cys)
c.5870T>G (p.Phe1957Cys)
c.5867T>G (p.Phe1956Cys)
n.5999T>G
n.5914T>G
n.5985T>G
dbSNP
11g.77208467T=CA1984128436MYO7Ac.5894T= (p.Phe1965=)
c.3721T=
c.5747T= (p.Phe1916=)
c.3320T= (p.Phe1107=)
c.5780T= (p.Phe1927=)
n.3430T=
n.808T=
c.5777T= (p.Phe1926=)
c.5885T= (p.Phe1962=)
c.5888T= (p.Phe1963=)
c.5861T= (p.Phe1954=)
c.5798T= (p.Phe1933=)
c.5669T= (p.Phe1890=)
c.5657T= (p.Phe1886=)
c.5630T= (p.Phe1877=)
n.6214T=
c.5984T= (p.Phe1995=)
c.5978T= (p.Phe1993=)
c.5975T= (p.Phe1992=)
c.5870T= (p.Phe1957=)
c.5867T= (p.Phe1956=)
n.5999T=
n.5914T=
n.5985T=
11g.77208468T>ACA381932688MYO7Ac.5895T>A (p.Phe1965Leu)
c.3722T>A
c.5748T>A (p.Phe1916Leu)
c.3321T>A (p.Phe1107Leu)
c.5781T>A (p.Phe1927Leu)
n.3431T>A
n.809T>A
c.5778T>A (p.Phe1926Leu)
c.5886T>A (p.Phe1962Leu)
c.5889T>A (p.Phe1963Leu)
c.5862T>A (p.Phe1954Leu)
c.5799T>A (p.Phe1933Leu)
c.5670T>A (p.Phe1890Leu)
c.5658T>A (p.Phe1886Leu)
c.5631T>A (p.Phe1877Leu)
n.6215T>A
c.5985T>A (p.Phe1995Leu)
c.5979T>A (p.Phe1993Leu)
c.5976T>A (p.Phe1992Leu)
c.5871T>A (p.Phe1957Leu)
c.5868T>A (p.Phe1956Leu)
n.6000T>A
n.5915T>A
n.5986T>A
11g.77208468T>CCA475791595MYO7Ac.5895T>C (p.Phe1965=)
c.3722T>C
c.5748T>C (p.Phe1916=)
c.3321T>C (p.Phe1107=)
c.5781T>C (p.Phe1927=)
n.3431T>C
n.809T>C
c.5778T>C (p.Phe1926=)
c.5886T>C (p.Phe1962=)
c.5889T>C (p.Phe1963=)
c.5862T>C (p.Phe1954=)
c.5799T>C (p.Phe1933=)
c.5670T>C (p.Phe1890=)
c.5658T>C (p.Phe1886=)
c.5631T>C (p.Phe1877=)
n.6215T>C
c.5985T>C (p.Phe1995=)
c.5979T>C (p.Phe1993=)
c.5976T>C (p.Phe1992=)
c.5871T>C (p.Phe1957=)
c.5868T>C (p.Phe1956=)
n.6000T>C
n.5915T>C
n.5986T>C
11g.77208468T>GCA381932690MYO7Ac.5895T>G (p.Phe1965Leu)
c.3722T>G
c.5748T>G (p.Phe1916Leu)
c.3321T>G (p.Phe1107Leu)
c.5781T>G (p.Phe1927Leu)
n.3431T>G
n.809T>G
c.5778T>G (p.Phe1926Leu)
c.5886T>G (p.Phe1962Leu)
c.5889T>G (p.Phe1963Leu)
c.5862T>G (p.Phe1954Leu)
c.5799T>G (p.Phe1933Leu)
c.5670T>G (p.Phe1890Leu)
c.5658T>G (p.Phe1886Leu)
c.5631T>G (p.Phe1877Leu)
n.6215T>G
c.5985T>G (p.Phe1995Leu)
c.5979T>G (p.Phe1993Leu)
c.5976T>G (p.Phe1992Leu)
c.5871T>G (p.Phe1957Leu)
c.5868T>G (p.Phe1956Leu)
n.6000T>G
n.5915T>G
n.5986T>G
11g.77208469G>ACA6198862MYO7Ac.5896G>A (p.Val1966Ile)
c.3723G>A
c.5749G>A (p.Val1917Ile)
c.3322G>A (p.Val1108Ile)
c.5782G>A (p.Val1928Ile)
n.3432G>A
n.810G>A
c.5779G>A (p.Val1927Ile)
c.5887G>A (p.Val1963Ile)
c.5890G>A (p.Val1964Ile)
c.5863G>A (p.Val1955Ile)
c.5800G>A (p.Val1934Ile)
c.5671G>A (p.Val1891Ile)
c.5659G>A (p.Val1887Ile)
c.5632G>A (p.Val1878Ile)
n.6216G>A
c.5986G>A (p.Val1996Ile)
c.5980G>A (p.Val1994Ile)
c.5977G>A (p.Val1993Ile)
c.5872G>A (p.Val1958Ile)
c.5869G>A (p.Val1957Ile)
n.6001G>A
n.5916G>A
n.5987G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77208469G>CCA381932694MYO7Ac.5896G>C (p.Val1966Leu)
c.3723G>C
c.5749G>C (p.Val1917Leu)
c.3322G>C (p.Val1108Leu)
c.5782G>C (p.Val1928Leu)
n.3432G>C
n.810G>C
c.5779G>C (p.Val1927Leu)
c.5887G>C (p.Val1963Leu)
c.5890G>C (p.Val1964Leu)
c.5863G>C (p.Val1955Leu)
c.5800G>C (p.Val1934Leu)
c.5671G>C (p.Val1891Leu)
c.5659G>C (p.Val1887Leu)
c.5632G>C (p.Val1878Leu)
n.6216G>C
c.5986G>C (p.Val1996Leu)
c.5980G>C (p.Val1994Leu)
c.5977G>C (p.Val1993Leu)
c.5872G>C (p.Val1958Leu)
c.5869G>C (p.Val1957Leu)
n.6001G>C
n.5916G>C
n.5987G>C
11g.77208469G=CA1984128437MYO7Ac.5896G= (p.Val1966=)
c.3723G=
c.5749G= (p.Val1917=)
c.3322G= (p.Val1108=)
c.5782G= (p.Val1928=)
n.3432G=
n.810G=
c.5779G= (p.Val1927=)
c.5887G= (p.Val1963=)
c.5890G= (p.Val1964=)
c.5863G= (p.Val1955=)
c.5800G= (p.Val1934=)
c.5671G= (p.Val1891=)
c.5659G= (p.Val1887=)
c.5632G= (p.Val1878=)
n.6216G=
c.5986G= (p.Val1996=)
c.5980G= (p.Val1994=)
c.5977G= (p.Val1993=)
c.5872G= (p.Val1958=)
c.5869G= (p.Val1957=)
n.6001G=
n.5916G=
n.5987G=
11g.77208469G>TCA381932696MYO7Ac.5896G>T (p.Val1966Phe)
c.3723G>T
c.5749G>T (p.Val1917Phe)
c.3322G>T (p.Val1108Phe)
c.5782G>T (p.Val1928Phe)
n.3432G>T
n.810G>T
c.5779G>T (p.Val1927Phe)
c.5887G>T (p.Val1963Phe)
c.5890G>T (p.Val1964Phe)
c.5863G>T (p.Val1955Phe)
c.5800G>T (p.Val1934Phe)
c.5671G>T (p.Val1891Phe)
c.5659G>T (p.Val1887Phe)
c.5632G>T (p.Val1878Phe)
n.6216G>T
c.5986G>T (p.Val1996Phe)
c.5980G>T (p.Val1994Phe)
c.5977G>T (p.Val1993Phe)
c.5872G>T (p.Val1958Phe)
c.5869G>T (p.Val1957Phe)
n.6001G>T
n.5916G>T
n.5987G>T
11g.77208470T>ACA381932700MYO7Ac.5897T>A (p.Val1966Asp)
c.3724T>A
c.5750T>A (p.Val1917Asp)
c.3323T>A (p.Val1108Asp)
c.5783T>A (p.Val1928Asp)
n.3433T>A
n.811T>A
c.5780T>A (p.Val1927Asp)
c.5888T>A (p.Val1963Asp)
c.5891T>A (p.Val1964Asp)
c.5864T>A (p.Val1955Asp)
c.5801T>A (p.Val1934Asp)
c.5672T>A (p.Val1891Asp)
c.5660T>A (p.Val1887Asp)
c.5633T>A (p.Val1878Asp)
n.6217T>A
c.5987T>A (p.Val1996Asp)
c.5981T>A (p.Val1994Asp)
c.5978T>A (p.Val1993Asp)
c.5873T>A (p.Val1958Asp)
c.5870T>A (p.Val1957Asp)
n.6002T>A
n.5917T>A
n.5988T>A
11g.77208470T>CCA381932702MYO7Ac.5897T>C (p.Val1966Ala)
c.3724T>C
c.5750T>C (p.Val1917Ala)
c.3323T>C (p.Val1108Ala)
c.5783T>C (p.Val1928Ala)
n.3433T>C
n.811T>C
c.5780T>C (p.Val1927Ala)
c.5888T>C (p.Val1963Ala)
c.5891T>C (p.Val1964Ala)
c.5864T>C (p.Val1955Ala)
c.5801T>C (p.Val1934Ala)
c.5672T>C (p.Val1891Ala)
c.5660T>C (p.Val1887Ala)
c.5633T>C (p.Val1878Ala)
n.6217T>C
c.5987T>C (p.Val1996Ala)
c.5981T>C (p.Val1994Ala)
c.5978T>C (p.Val1993Ala)
c.5873T>C (p.Val1958Ala)
c.5870T>C (p.Val1957Ala)
n.6002T>C
n.5917T>C
n.5988T>C
11g.77208470T>GCA381932704MYO7Ac.5897T>G (p.Val1966Gly)
c.3724T>G
c.5750T>G (p.Val1917Gly)
c.3323T>G (p.Val1108Gly)
c.5783T>G (p.Val1928Gly)
n.3433T>G
n.811T>G
c.5780T>G (p.Val1927Gly)
c.5888T>G (p.Val1963Gly)
c.5891T>G (p.Val1964Gly)
c.5864T>G (p.Val1955Gly)
c.5801T>G (p.Val1934Gly)
c.5672T>G (p.Val1891Gly)
c.5660T>G (p.Val1887Gly)
c.5633T>G (p.Val1878Gly)
n.6217T>G
c.5987T>G (p.Val1996Gly)
c.5981T>G (p.Val1994Gly)
c.5978T>G (p.Val1993Gly)
c.5873T>G (p.Val1958Gly)
c.5870T>G (p.Val1957Gly)
n.6002T>G
n.5917T>G
n.5988T>G
11g.77208470_77208477delinsTTCGACACCA1984128438MYO7Ac.5897_5904delinsTTCGACAC (p.Val1966=)
c.3724_3731delinsTTCGACAC
c.5750_5757delinsTTCGACAC (p.Val1917=)
c.3323_3330delinsTTCGACAC (p.Val1108=)
c.5783_5790delinsTTCGACAC (p.Val1928=)
n.3433_3440delinsTTCGACAC
n.811_818delinsTTCGACAC
c.5780_5787delinsTTCGACAC (p.Val1927=)
c.5888_5895delinsTTCGACAC (p.Val1963=)
c.5891_5898delinsTTCGACAC (p.Val1964=)
c.5864_5871delinsTTCGACAC (p.Val1955=)
c.5801_5808delinsTTCGACAC (p.Val1934=)
c.5672_5679delinsTTCGACAC (p.Val1891=)
c.5660_5667delinsTTCGACAC (p.Val1887=)
c.5633_5640delinsTTCGACAC (p.Val1878=)
n.6217_6224delinsTTCGACAC
c.5987_5994delinsTTCGACAC (p.Val1996=)
c.5981_5988delinsTTCGACAC (p.Val1994=)
c.5978_5985delinsTTCGACAC (p.Val1993=)
c.5873_5880delinsTTCGACAC (p.Val1958=)
c.5870_5877delinsTTCGACAC (p.Val1957=)
n.6002_6009delinsTTCGACAC
n.5917_5924delinsTTCGACAC
n.5988_5995delinsTTCGACAC
11g.77208471T>ACA475791599MYO7Ac.5898T>A (p.Val1966=)
c.3725T>A
c.5751T>A (p.Val1917=)
c.3324T>A (p.Val1108=)
c.5784T>A (p.Val1928=)
n.3434T>A
n.812T>A
c.5781T>A (p.Val1927=)
c.5889T>A (p.Val1963=)
c.5892T>A (p.Val1964=)
c.5865T>A (p.Val1955=)
c.5802T>A (p.Val1934=)
c.5673T>A (p.Val1891=)
c.5661T>A (p.Val1887=)
c.5634T>A (p.Val1878=)
n.6218T>A
c.5988T>A (p.Val1996=)
c.5982T>A (p.Val1994=)
c.5979T>A (p.Val1993=)
c.5874T>A (p.Val1958=)
c.5871T>A (p.Val1957=)
n.6003T>A
n.5918T>A
n.5989T>A
11g.77208471T>CCA475791600MYO7Ac.5898T>C (p.Val1966=)
c.3725T>C
c.5751T>C (p.Val1917=)
c.3324T>C (p.Val1108=)
c.5784T>C (p.Val1928=)
n.3434T>C
n.812T>C
c.5781T>C (p.Val1927=)
c.5889T>C (p.Val1963=)
c.5892T>C (p.Val1964=)
c.5865T>C (p.Val1955=)
c.5802T>C (p.Val1934=)
c.5673T>C (p.Val1891=)
c.5661T>C (p.Val1887=)
c.5634T>C (p.Val1878=)
n.6218T>C
c.5988T>C (p.Val1996=)
c.5982T>C (p.Val1994=)
c.5979T>C (p.Val1993=)
c.5874T>C (p.Val1958=)
c.5871T>C (p.Val1957=)
n.6003T>C
n.5918T>C
n.5989T>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77208471T>GCA475791603MYO7Ac.5898T>G (p.Val1966=)
c.3725T>G
c.5751T>G (p.Val1917=)
c.3324T>G (p.Val1108=)
c.5784T>G (p.Val1928=)
n.3434T>G
n.812T>G
c.5781T>G (p.Val1927=)
c.5889T>G (p.Val1963=)
c.5892T>G (p.Val1964=)
c.5865T>G (p.Val1955=)
c.5802T>G (p.Val1934=)
c.5673T>G (p.Val1891=)
c.5661T>G (p.Val1887=)
c.5634T>G (p.Val1878=)
n.6218T>G
c.5988T>G (p.Val1996=)
c.5982T>G (p.Val1994=)
c.5979T>G (p.Val1993=)
c.5874T>G (p.Val1958=)
c.5871T>G (p.Val1957=)
n.6003T>G
n.5918T>G
n.5989T>G
11g.77208471T=CA1984128439MYO7Ac.5898T= (p.Val1966=)
c.3725T=
c.5751T= (p.Val1917=)
c.3324T= (p.Val1108=)
c.5784T= (p.Val1928=)
n.3434T=
n.812T=
c.5781T= (p.Val1927=)
c.5889T= (p.Val1963=)
c.5892T= (p.Val1964=)
c.5865T= (p.Val1955=)
c.5802T= (p.Val1934=)
c.5673T= (p.Val1891=)
c.5661T= (p.Val1887=)
c.5634T= (p.Val1878=)
n.6218T=
c.5988T= (p.Val1996=)
c.5982T= (p.Val1994=)
c.5979T= (p.Val1993=)
c.5874T= (p.Val1958=)
c.5871T= (p.Val1957=)
n.6003T=
n.5918T=
n.5989T=
11g.77208471_77208472delinsGTCA2580084985MYO7Ac.5898_5899delinsGT (p.Val1967Ter)
c.3725_3726delinsGT
c.5751_5752delinsGT (p.Val1918Ter)
c.3324_3325delinsGT (p.Val1109Ter)
c.5784_5785delinsGT (p.Val1929Ter)
n.3434_3435delinsGT
n.812_813delinsGT
c.5781_5782delinsGT (p.Val1928Ter)
c.5889_5890delinsGT (p.Val1964Ter)
c.5892_5893delinsGT (p.Val1965Ter)
c.5865_5866delinsGT (p.Val1956Ter)
c.5802_5803delinsGT (p.Val1935Ter)
c.5673_5674delinsGT (p.Val1892Ter)
c.5661_5662delinsGT (p.Val1888Ter)
c.5634_5635delinsGT (p.Val1879Ter)
n.6218_6219delinsGT
c.5988_5989delinsGT (p.Val1997Ter)
c.5982_5983delinsGT (p.Val1995Ter)
c.5979_5980delinsGT (p.Val1994Ter)
c.5874_5875delinsGT (p.Val1959Ter)
c.5871_5872delinsGT (p.Val1958Ter)
n.6003_6004delinsGT
n.5918_5919delinsGT
n.5989_5990delinsGT
ClinVar
11g.77208472_77208478delCA680425206MYO7Ac.5899_5905del (p.Arg1967Ter)
c.3726_3732del
c.5752_5758del (p.Arg1918Ter)
c.3325_3331del (p.Arg1109Ter)
c.5785_5791del (p.Arg1929Ter)
n.3435_3441del
n.813_819del
c.5782_5788del (p.Arg1928Ter)
c.5890_5896del (p.Arg1964Ter)
c.5893_5899del (p.Arg1965Ter)
c.5866_5872del (p.Arg1956Ter)
c.5803_5809del (p.Arg1935Ter)
c.5674_5680del (p.Arg1892Ter)
c.5662_5668del (p.Arg1888Ter)
c.5635_5641del (p.Arg1879Ter)
n.6219_6225del
c.5989_5995del (p.Arg1997Ter)
c.5983_5989del (p.Arg1995Ter)
c.5980_5986del (p.Arg1994Ter)
c.5875_5881del (p.Arg1959Ter)
c.5872_5878del (p.Arg1958Ter)
n.6004_6010del
n.5919_5925del
n.5990_5996del
dbSNP
11g.77208472delCA2739270721MYO7Ac.5899del (p.Arg1967AspfsTer3)
c.3726del
c.5752del (p.Arg1918AspfsTer3)
c.3325del (p.Arg1109AspfsTer3)
c.5785del (p.Arg1929AspfsTer3)
n.3435del
n.813del
c.5782del (p.Arg1928AspfsTer3)
c.5890del (p.Arg1964AspfsTer3)
c.5893del (p.Arg1965AspfsTer3)
c.5866del (p.Arg1956AspfsTer3)
c.5803del (p.Arg1935AspfsTer3)
c.5674del (p.Arg1892AspfsTer3)
c.5662del (p.Arg1888AspfsTer3)
c.5635del (p.Arg1879AspfsTer3)
n.6219del
c.5989del (p.Arg1997AspfsTer3)
c.5983del (p.Arg1995AspfsTer3)
c.5980del (p.Arg1994AspfsTer3)
c.5875del (p.Arg1959AspfsTer3)
c.5872del (p.Arg1958AspfsTer3)
n.6004del
n.5919del
n.5990del
ClinVar
11g.77208472C>ACA475791604MYO7Ac.5899C>A (p.Arg1967=)
c.3726C>A
c.5752C>A (p.Arg1918=)
c.3325C>A (p.Arg1109=)
c.5785C>A (p.Arg1929=)
n.3435C>A
n.813C>A
c.5782C>A (p.Arg1928=)
c.5890C>A (p.Arg1964=)
c.5893C>A (p.Arg1965=)
c.5866C>A (p.Arg1956=)
c.5803C>A (p.Arg1935=)
c.5674C>A (p.Arg1892=)
c.5662C>A (p.Arg1888=)
c.5635C>A (p.Arg1879=)
n.6219C>A
c.5989C>A (p.Arg1997=)
c.5983C>A (p.Arg1995=)
c.5980C>A (p.Arg1994=)
c.5875C>A (p.Arg1959=)
c.5872C>A (p.Arg1958=)
n.6004C>A
n.5919C>A
n.5990C>A
dbSNP gnomAD v4
11g.77208472C=CA1984128440MYO7Ac.5899C= (p.Arg1967=)
c.3726C=
c.5752C= (p.Arg1918=)
c.3325C= (p.Arg1109=)
c.5785C= (p.Arg1929=)
n.3435C=
n.813C=
c.5782C= (p.Arg1928=)
c.5890C= (p.Arg1964=)
c.5893C= (p.Arg1965=)
c.5866C= (p.Arg1956=)
c.5803C= (p.Arg1935=)
c.5674C= (p.Arg1892=)
c.5662C= (p.Arg1888=)
c.5635C= (p.Arg1879=)
n.6219C=
c.5989C= (p.Arg1997=)
c.5983C= (p.Arg1995=)
c.5980C= (p.Arg1994=)
c.5875C= (p.Arg1959=)
c.5872C= (p.Arg1958=)
n.6004C=
n.5919C=
n.5990C=
11g.77208472C>GCA381932707MYO7Ac.5899C>G (p.Arg1967Gly)
c.3726C>G
c.5752C>G (p.Arg1918Gly)
c.3325C>G (p.Arg1109Gly)
c.5785C>G (p.Arg1929Gly)
n.3435C>G
n.813C>G
c.5782C>G (p.Arg1928Gly)
c.5890C>G (p.Arg1964Gly)
c.5893C>G (p.Arg1965Gly)
c.5866C>G (p.Arg1956Gly)
c.5803C>G (p.Arg1935Gly)
c.5674C>G (p.Arg1892Gly)
c.5662C>G (p.Arg1888Gly)
c.5635C>G (p.Arg1879Gly)
n.6219C>G
c.5989C>G (p.Arg1997Gly)
c.5983C>G (p.Arg1995Gly)
c.5980C>G (p.Arg1994Gly)
c.5875C>G (p.Arg1959Gly)
c.5872C>G (p.Arg1958Gly)
n.6004C>G
n.5919C>G
n.5990C>G
ClinVar dbSNP
11g.77208472C>TCA278734MYO7Ac.5899C>T (p.Arg1967Ter)
c.3726C>T
c.5752C>T (p.Arg1918Ter)
c.3325C>T (p.Arg1109Ter)
c.5785C>T (p.Arg1929Ter)
n.3435C>T
n.813C>T
c.5782C>T (p.Arg1928Ter)
c.5890C>T (p.Arg1964Ter)
c.5893C>T (p.Arg1965Ter)
c.5866C>T (p.Arg1956Ter)
c.5803C>T (p.Arg1935Ter)
c.5674C>T (p.Arg1892Ter)
c.5662C>T (p.Arg1888Ter)
c.5635C>T (p.Arg1879Ter)
n.6219C>T
c.5989C>T (p.Arg1997Ter)
c.5983C>T (p.Arg1995Ter)
c.5980C>T (p.Arg1994Ter)
c.5875C>T (p.Arg1959Ter)
c.5872C>T (p.Arg1958Ter)
n.6004C>T
n.5919C>T
n.5990C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77208473G>ACA6198863MYO7Ac.5900G>A (p.Arg1967Gln)
c.3727G>A
c.5753G>A (p.Arg1918Gln)
c.3326G>A (p.Arg1109Gln)
c.5786G>A (p.Arg1929Gln)
n.3436G>A
n.814G>A
c.5783G>A (p.Arg1928Gln)
c.5891G>A (p.Arg1964Gln)
c.5894G>A (p.Arg1965Gln)
c.5867G>A (p.Arg1956Gln)
c.5804G>A (p.Arg1935Gln)
c.5675G>A (p.Arg1892Gln)
c.5663G>A (p.Arg1888Gln)
c.5636G>A (p.Arg1879Gln)
n.6220G>A
c.5990G>A (p.Arg1997Gln)
c.5984G>A (p.Arg1995Gln)
c.5981G>A (p.Arg1994Gln)
c.5876G>A (p.Arg1959Gln)
c.5873G>A (p.Arg1958Gln)
n.6005G>A
n.5920G>A
n.5991G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77208473G>CCA381932711MYO7Ac.5900G>C (p.Arg1967Pro)
c.3727G>C
c.5753G>C (p.Arg1918Pro)
c.3326G>C (p.Arg1109Pro)
c.5786G>C (p.Arg1929Pro)
n.3436G>C
n.814G>C
c.5783G>C (p.Arg1928Pro)
c.5891G>C (p.Arg1964Pro)
c.5894G>C (p.Arg1965Pro)
c.5867G>C (p.Arg1956Pro)
c.5804G>C (p.Arg1935Pro)
c.5675G>C (p.Arg1892Pro)
c.5663G>C (p.Arg1888Pro)
c.5636G>C (p.Arg1879Pro)
n.6220G>C
c.5990G>C (p.Arg1997Pro)
c.5984G>C (p.Arg1995Pro)
c.5981G>C (p.Arg1994Pro)
c.5876G>C (p.Arg1959Pro)
c.5873G>C (p.Arg1958Pro)
n.6005G>C
n.5920G>C
n.5991G>C
11g.77208473G=CA1984128441MYO7Ac.5900G= (p.Arg1967=)
c.3727G=
c.5753G= (p.Arg1918=)
c.3326G= (p.Arg1109=)
c.5786G= (p.Arg1929=)
n.3436G=
n.814G=
c.5783G= (p.Arg1928=)
c.5891G= (p.Arg1964=)
c.5894G= (p.Arg1965=)
c.5867G= (p.Arg1956=)
c.5804G= (p.Arg1935=)
c.5675G= (p.Arg1892=)
c.5663G= (p.Arg1888=)
c.5636G= (p.Arg1879=)
n.6220G=
c.5990G= (p.Arg1997=)
c.5984G= (p.Arg1995=)
c.5981G= (p.Arg1994=)
c.5876G= (p.Arg1959=)
c.5873G= (p.Arg1958=)
n.6005G=
n.5920G=
n.5991G=
11g.77208473G>TCA381932713MYO7Ac.5900G>T (p.Arg1967Leu)
c.3727G>T
c.5753G>T (p.Arg1918Leu)
c.3326G>T (p.Arg1109Leu)
c.5786G>T (p.Arg1929Leu)
n.3436G>T
n.814G>T
c.5783G>T (p.Arg1928Leu)
c.5891G>T (p.Arg1964Leu)
c.5894G>T (p.Arg1965Leu)
c.5867G>T (p.Arg1956Leu)
c.5804G>T (p.Arg1935Leu)
c.5675G>T (p.Arg1892Leu)
c.5663G>T (p.Arg1888Leu)
c.5636G>T (p.Arg1879Leu)
n.6220G>T
c.5990G>T (p.Arg1997Leu)
c.5984G>T (p.Arg1995Leu)
c.5981G>T (p.Arg1994Leu)
c.5876G>T (p.Arg1959Leu)
c.5873G>T (p.Arg1958Leu)
n.6005G>T
n.5920G>T
n.5991G>T
gnomAD v3 gnomAD v4
11g.77208474A>CCA475791606MYO7Ac.5901A>C (p.Arg1967=)
c.3728A>C
c.5754A>C (p.Arg1918=)
c.3327A>C (p.Arg1109=)
c.5787A>C (p.Arg1929=)
n.3437A>C
n.815A>C
c.5784A>C (p.Arg1928=)
c.5892A>C (p.Arg1964=)
c.5895A>C (p.Arg1965=)
c.5868A>C (p.Arg1956=)
c.5805A>C (p.Arg1935=)
c.5676A>C (p.Arg1892=)
c.5664A>C (p.Arg1888=)
c.5637A>C (p.Arg1879=)
n.6221A>C
c.5991A>C (p.Arg1997=)
c.5985A>C (p.Arg1995=)
c.5982A>C (p.Arg1994=)
c.5877A>C (p.Arg1959=)
c.5874A>C (p.Arg1958=)
n.6006A>C
n.5921A>C
n.5992A>C
11g.77208474A>GCA475791607MYO7Ac.5901A>G (p.Arg1967=)
c.3728A>G
c.5754A>G (p.Arg1918=)
c.3327A>G (p.Arg1109=)
c.5787A>G (p.Arg1929=)
n.3437A>G
n.815A>G
c.5784A>G (p.Arg1928=)
c.5892A>G (p.Arg1964=)
c.5895A>G (p.Arg1965=)
c.5868A>G (p.Arg1956=)
c.5805A>G (p.Arg1935=)
c.5676A>G (p.Arg1892=)
c.5664A>G (p.Arg1888=)
c.5637A>G (p.Arg1879=)
n.6221A>G
c.5991A>G (p.Arg1997=)
c.5985A>G (p.Arg1995=)
c.5982A>G (p.Arg1994=)
c.5877A>G (p.Arg1959=)
c.5874A>G (p.Arg1958=)
n.6006A>G
n.5921A>G
n.5992A>G
11g.77208474A>TCA475791608MYO7Ac.5901A>T (p.Arg1967=)
c.3728A>T
c.5754A>T (p.Arg1918=)
c.3327A>T (p.Arg1109=)
c.5787A>T (p.Arg1929=)
n.3437A>T
n.815A>T
c.5784A>T (p.Arg1928=)
c.5892A>T (p.Arg1964=)
c.5895A>T (p.Arg1965=)
c.5868A>T (p.Arg1956=)
c.5805A>T (p.Arg1935=)
c.5676A>T (p.Arg1892=)
c.5664A>T (p.Arg1888=)
c.5637A>T (p.Arg1879=)
n.6221A>T
c.5991A>T (p.Arg1997=)
c.5985A>T (p.Arg1995=)
c.5982A>T (p.Arg1994=)
c.5877A>T (p.Arg1959=)
c.5874A>T (p.Arg1958=)
n.6006A>T
n.5921A>T
n.5992A>T
11g.77208475C>ACA381932715MYO7Ac.5902C>A (p.His1968Asn)
c.3729C>A
c.5755C>A (p.His1919Asn)
c.3328C>A (p.His1110Asn)
c.5788C>A (p.His1930Asn)
n.3438C>A
n.816C>A
c.5785C>A (p.His1929Asn)
c.5893C>A (p.His1965Asn)
c.5896C>A (p.His1966Asn)
c.5869C>A (p.His1957Asn)
c.5806C>A (p.His1936Asn)
c.5677C>A (p.His1893Asn)
c.5665C>A (p.His1889Asn)
c.5638C>A (p.His1880Asn)
n.6222C>A
c.5992C>A (p.His1998Asn)
c.5986C>A (p.His1996Asn)
c.5983C>A (p.His1995Asn)
c.5878C>A (p.His1960Asn)
c.5875C>A (p.His1959Asn)
n.6007C>A
n.5922C>A
n.5993C>A
11g.77208475C>GCA381932717MYO7Ac.5902C>G (p.His1968Asp)
c.3729C>G
c.5755C>G (p.His1919Asp)
c.3328C>G (p.His1110Asp)
c.5788C>G (p.His1930Asp)
n.3438C>G
n.816C>G
c.5785C>G (p.His1929Asp)
c.5893C>G (p.His1965Asp)
c.5896C>G (p.His1966Asp)
c.5869C>G (p.His1957Asp)
c.5806C>G (p.His1936Asp)
c.5677C>G (p.His1893Asp)
c.5665C>G (p.His1889Asp)
c.5638C>G (p.His1880Asp)
n.6222C>G
c.5992C>G (p.His1998Asp)
c.5986C>G (p.His1996Asp)
c.5983C>G (p.His1995Asp)
c.5878C>G (p.His1960Asp)
c.5875C>G (p.His1959Asp)
n.6007C>G
n.5922C>G
n.5993C>G
11g.77208475C>TCA381932719MYO7Ac.5902C>T (p.His1968Tyr)
c.3729C>T
c.5755C>T (p.His1919Tyr)
c.3328C>T (p.His1110Tyr)
c.5788C>T (p.His1930Tyr)
n.3438C>T
n.816C>T
c.5785C>T (p.His1929Tyr)
c.5893C>T (p.His1965Tyr)
c.5896C>T (p.His1966Tyr)
c.5869C>T (p.His1957Tyr)
c.5806C>T (p.His1936Tyr)
c.5677C>T (p.His1893Tyr)
c.5665C>T (p.His1889Tyr)
c.5638C>T (p.His1880Tyr)
n.6222C>T
c.5992C>T (p.His1998Tyr)
c.5986C>T (p.His1996Tyr)
c.5983C>T (p.His1995Tyr)
c.5878C>T (p.His1960Tyr)
c.5875C>T (p.His1959Tyr)
n.6007C>T
n.5922C>T
n.5993C>T
11g.77208476A=CA1984128442MYO7Ac.5903A= (p.His1968=)
c.3730A=
c.5756A= (p.His1919=)
c.3329A= (p.His1110=)
c.5789A= (p.His1930=)
n.3439A=
n.817A=
c.5786A= (p.His1929=)
c.5894A= (p.His1965=)
c.5897A= (p.His1966=)
c.5870A= (p.His1957=)
c.5807A= (p.His1936=)
c.5678A= (p.His1893=)
c.5666A= (p.His1889=)
c.5639A= (p.His1880=)
n.6223A=
c.5993A= (p.His1998=)
c.5987A= (p.His1996=)
c.5984A= (p.His1995=)
c.5879A= (p.His1960=)
c.5876A= (p.His1959=)
n.6008A=
n.5923A=
n.5994A=
11g.77208476A>CCA381932721MYO7Ac.5903A>C (p.His1968Pro)
c.3730A>C
c.5756A>C (p.His1919Pro)
c.3329A>C (p.His1110Pro)
c.5789A>C (p.His1930Pro)
n.3439A>C
n.817A>C
c.5786A>C (p.His1929Pro)
c.5894A>C (p.His1965Pro)
c.5897A>C (p.His1966Pro)
c.5870A>C (p.His1957Pro)
c.5807A>C (p.His1936Pro)
c.5678A>C (p.His1893Pro)
c.5666A>C (p.His1889Pro)
c.5639A>C (p.His1880Pro)
n.6223A>C
c.5993A>C (p.His1998Pro)
c.5987A>C (p.His1996Pro)
c.5984A>C (p.His1995Pro)
c.5879A>C (p.His1960Pro)
c.5876A>C (p.His1959Pro)
n.6008A>C
n.5923A>C
n.5994A>C
11g.77208476A>GCA6198864MYO7Ac.5903A>G (p.His1968Arg)
c.3730A>G
c.5756A>G (p.His1919Arg)
c.3329A>G (p.His1110Arg)
c.5789A>G (p.His1930Arg)
n.3439A>G
n.817A>G
c.5786A>G (p.His1929Arg)
c.5894A>G (p.His1965Arg)
c.5897A>G (p.His1966Arg)
c.5870A>G (p.His1957Arg)
c.5807A>G (p.His1936Arg)
c.5678A>G (p.His1893Arg)
c.5666A>G (p.His1889Arg)
c.5639A>G (p.His1880Arg)
n.6223A>G
c.5993A>G (p.His1998Arg)
c.5987A>G (p.His1996Arg)
c.5984A>G (p.His1995Arg)
c.5879A>G (p.His1960Arg)
c.5876A>G (p.His1959Arg)
n.6008A>G
n.5923A>G
n.5994A>G
dbSNP ExAC gnomAD v2 gnomAD v4
11g.77208476A>TCA381932722MYO7Ac.5903A>T (p.His1968Leu)
c.3730A>T
c.5756A>T (p.His1919Leu)
c.3329A>T (p.His1110Leu)
c.5789A>T (p.His1930Leu)
n.3439A>T
n.817A>T
c.5786A>T (p.His1929Leu)
c.5894A>T (p.His1965Leu)
c.5897A>T (p.His1966Leu)
c.5870A>T (p.His1957Leu)
c.5807A>T (p.His1936Leu)
c.5678A>T (p.His1893Leu)
c.5666A>T (p.His1889Leu)
c.5639A>T (p.His1880Leu)
n.6223A>T
c.5993A>T (p.His1998Leu)
c.5987A>T (p.His1996Leu)
c.5984A>T (p.His1995Leu)
c.5879A>T (p.His1960Leu)
c.5876A>T (p.His1959Leu)
n.6008A>T
n.5923A>T
n.5994A>T
11g.77208477C>ACA381932723MYO7Ac.5904C>A (p.His1968Gln)
c.3731C>A
c.5757C>A (p.His1919Gln)
c.3330C>A (p.His1110Gln)
c.5790C>A (p.His1930Gln)
n.3440C>A
n.818C>A
c.5787C>A (p.His1929Gln)
c.5895C>A (p.His1965Gln)
c.5898C>A (p.His1966Gln)
c.5871C>A (p.His1957Gln)
c.5808C>A (p.His1936Gln)
c.5679C>A (p.His1893Gln)
c.5667C>A (p.His1889Gln)
c.5640C>A (p.His1880Gln)
n.6224C>A
c.5994C>A (p.His1998Gln)
c.5988C>A (p.His1996Gln)
c.5985C>A (p.His1995Gln)
c.5880C>A (p.His1960Gln)
c.5877C>A (p.His1959Gln)
n.6009C>A
n.5924C>A
n.5995C>A
gnomAD v2
11g.77208477C=CA1984128443MYO7Ac.5904C= (p.His1968=)
c.3731C=
c.5757C= (p.His1919=)
c.3330C= (p.His1110=)
c.5790C= (p.His1930=)
n.3440C=
n.818C=
c.5787C= (p.His1929=)
c.5895C= (p.His1965=)
c.5898C= (p.His1966=)
c.5871C= (p.His1957=)
c.5808C= (p.His1936=)
c.5679C= (p.His1893=)
c.5667C= (p.His1889=)
c.5640C= (p.His1880=)
n.6224C=
c.5994C= (p.His1998=)
c.5988C= (p.His1996=)
c.5985C= (p.His1995=)
c.5880C= (p.His1960=)
c.5877C= (p.His1959=)
n.6009C=
n.5924C=
n.5995C=
11g.77208477C>GCA381932724MYO7Ac.5904C>G (p.His1968Gln)
c.3731C>G
c.5757C>G (p.His1919Gln)
c.3330C>G (p.His1110Gln)
c.5790C>G (p.His1930Gln)
n.3440C>G
n.818C>G
c.5787C>G (p.His1929Gln)
c.5895C>G (p.His1965Gln)
c.5898C>G (p.His1966Gln)
c.5871C>G (p.His1957Gln)
c.5808C>G (p.His1936Gln)
c.5679C>G (p.His1893Gln)
c.5667C>G (p.His1889Gln)
c.5640C>G (p.His1880Gln)
n.6224C>G
c.5994C>G (p.His1998Gln)
c.5988C>G (p.His1996Gln)
c.5985C>G (p.His1995Gln)
c.5880C>G (p.His1960Gln)
c.5877C>G (p.His1959Gln)
n.6009C>G
n.5924C>G
n.5995C>G
11g.77208477C>TCA132410MYO7Ac.5904C>T (p.His1968=)
c.3731C>T
c.5757C>T (p.His1919=)
c.3330C>T (p.His1110=)
c.5790C>T (p.His1930=)
n.3440C>T
n.818C>T
c.5787C>T (p.His1929=)
c.5895C>T (p.His1965=)
c.5898C>T (p.His1966=)
c.5871C>T (p.His1957=)
c.5808C>T (p.His1936=)
c.5679C>T (p.His1893=)
c.5667C>T (p.His1889=)
c.5640C>T (p.His1880=)
n.6224C>T
c.5994C>T (p.His1998=)
c.5988C>T (p.His1996=)
c.5985C>T (p.His1995=)
c.5880C>T (p.His1960=)
c.5877C>T (p.His1959=)
n.6009C>T
n.5924C>T
n.5995C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched