Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.77208377C>A | CA2615254901 | MYO7A | c.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 |
11 | g.77208378A>C | CA2615254903 | MYO7A | c.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 |
11 | g.77208384T>C | CA600710866 | MYO7A | c.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 |
11 | g.77208384T= | CA1984128390 | MYO7A | c.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= | |
11 | g.77208385G>A | CA600710867 | MYO7A | c.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 |
11 | g.77208385G= | CA1984128391 | MYO7A | c.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= | |
11 | g.77208385G>T | CA2615254906 | MYO7A | c.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 |
11 | g.77208386C>A | CA2615254912 | MYO7A | c.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 |
11 | g.77208386C= | CA1984128392 | MYO7A | c.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= | |
11 | g.77208386C>G | CA600710868 | MYO7A | c.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 |
11 | g.77208386C>T | CA6198850 | MYO7A | c.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 |
11 | g.77208387A= | CA1984128393 | MYO7A | c.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= | |
11 | g.77208387A>C | CA600710869 | MYO7A | c.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 |
11 | g.77208388G>A | CA2615254918 | MYO7A | c.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 |
11 | g.77208388G>T | CA2615254919 | MYO7A | c.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 |
11 | g.77208389T>A | CA2615254920 | MYO7A | c.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 |
11 | g.77208389T= | CA1984128394 | MYO7A | c.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= | |
11 | g.77208389_77208390insC | CA600710870 | MYO7A | c.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 |
11 | g.77208390G>A | CA2615254978 | MYO7A | c.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 |
11 | g.77208393G>A | CA2615254980 | MYO7A | c.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 |
11 | g.77208393G>T | CA2615254984 | MYO7A | c.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 |
11 | g.77208394C>A | CA2615254986 | MYO7A | c.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 |
11 | g.77208394C= | CA1984128395 | MYO7A | c.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= | |
11 | g.77208394C>T | CA600710871 | MYO7A | c.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 |
11 | g.77208397A>T | CA2615254989 | MYO7A | c.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 |
11 | g.77208400C>A | CA2615254994 | MYO7A | c.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 |
11 | g.77208400C= | CA1984128396 | MYO7A | c.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= | |
11 | g.77208400C>G | CA2615254995 | MYO7A | c.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 |
11 | g.77208400C>T | CA600710872 | MYO7A | c.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 |
11 | g.77208401T>C | CA6198852 | MYO7A | c.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 |
11 | g.77208401T= | CA1984128397 | MYO7A | c.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= | |
11 | g.77208401_77208405dup | CA6198851 | MYO7A | c.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 |
11 | g.77208402G>C | CA2792791002 | MYO7A | c.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 | |
11 | g.77208402G>T | CA2615255012 | MYO7A | c.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 |
11 | g.77208404_77208414del | CA2740093141 | MYO7A | c.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 |
11 | g.77208403A>C | CA2574931843 | MYO7A | c.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 |
11 | g.77208403A>G | CA2615255017 | MYO7A | c.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 |
11 | g.77208403_77208404insTTGAG | CA2695215062 | MYO7A | c.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 | |
11 | g.77208404G>A | CA224825141 | MYO7A | c.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 |
11 | g.77208404G>C | CA2574931844 | MYO7A | c.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 | |
11 | g.77208404G= | CA1984128398 | MYO7A | c.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= | |
11 | g.77208404G>T | CA2615255020 | MYO7A | c.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 |
11 | g.77208405T>C | CA6198853 | MYO7A | c.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 |
11 | g.77208405T>G | CA939777850 | MYO7A | c.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 |
11 | g.77208405T= | CA1984128399 | MYO7A | c.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= | |
11 | g.77208405_77208406insTGA | CA2615255035 | MYO7A | c.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 |
11 | g.77208405_77208406insTGAGC | CA2724537986 | MYO7A | c.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 |
11 | g.77208406G>A | CA1984128401 | MYO7A | c.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 |
11 | g.77208406G= | CA1984128400 | MYO7A | c.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= | |
11 | g.77208408G>A | CA600710873 | MYO7A | c.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 |
11 | g.77208408G= | CA1984128402 | MYO7A | c.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= | |
11 | g.77208408G>T | CA2615255070 | MYO7A | c.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 |
11 | g.77208409C>A | CA2574931845 | MYO7A | c.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 |
11 | g.77208409C= | CA1984128404 | MYO7A | c.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= | |
11 | g.77208409C>T | CA1984128403 | MYO7A | c.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 |
11 | g.77208412C>A | CA2615255087 | MYO7A | c.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 |
11 | g.77208412C= | CA1984128405 | MYO7A | c.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= | |
11 | g.77208412C>T | CA6198854 | MYO7A | c.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 |
11 | g.77208413G>A | CA6198855 | MYO7A | c.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 |
11 | g.77208413G>C | CA680425056 | MYO7A | c.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 |
11 | g.77208413G= | CA1984128406 | MYO7A | c.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= | |
11 | g.77208413G>T | CA2615255131 | MYO7A | c.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 |
11 | g.77208414A>G | CA475791548 | MYO7A | c.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 | |
11 | g.77208416G>T | CA2615255135 | MYO7A | c.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 |
11 | g.77208417del | CA2615255134 | MYO7A | c.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 |
11 | g.77208417G>A | CA2574931846 | MYO7A | c.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 |
11 | g.77208417G>T | CA2615255137 | MYO7A | c.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 |
11 | g.77208418C>A | CA2615255143 | MYO7A | c.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 |
11 | g.77208418C= | CA1984128407 | MYO7A | c.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= | |
11 | g.77208418C>G | CA680425057 | MYO7A | c.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 |
11 | g.77208418C>T | CA2615255162 | MYO7A | c.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 |
11 | g.77208419C>A | CA2615255163 | MYO7A | c.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 |
11 | g.77208419C>G | CA2697548852 | MYO7A | c.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 |
11 | g.77208420C>A | CA2615255168 | MYO7A | c.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 |
11 | g.77208420_77208421del | CA2615255166 | MYO7A | c.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 |
11 | g.77208421T>C | CA6198856 | MYO7A | c.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 |
11 | g.77208421T>G | CA2724202211 | MYO7A | c.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 |
11 | g.77208421T= | CA1984128408 | MYO7A | c.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= | |
11 | g.77208422G= | CA1984128409 | MYO7A | c.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= | |
11 | g.77208422G>T | CA2615255172 | MYO7A | c.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 |
11 | g.77208422_77208423delinsTT | CA2580084979 | MYO7A | c.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 |
11 | g.77208422_77208423insTCCCC | CA600710874 | MYO7A | c.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 |
11 | g.77208423del | CA2615255187 | MYO7A | c.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 |
11 | g.77208423A= | CA1984128410 | MYO7A | c.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= | |
11 | g.77208423A>C | CA645584044 | MYO7A | c.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 |
11 | g.77208423A>G | CA2581032923 | MYO7A | c.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 | |
11 | g.77208423A>T | CA132404 | MYO7A | c.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 |
11 | g.77208423_77208424delinsTT | CA2499221341 | MYO7A | c.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 |
11 | g.77208423_77208424insGGTCATCAGCTTCGATGGCCCTGT | CA600710875 | MYO7A | c.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 |
11 | g.77208424C>A | CA2615255202 | MYO7A | c.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 |
11 | g.77208424C= | CA1984128411 | MYO7A | c.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= | |
11 | g.77208424C>T | CA6198857 | MYO7A | c.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 |
11 | g.77208425C= | CA1984128412 | MYO7A | c.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= | |
11 | g.77208425C>G | CA6198858 | MYO7A | c.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 |
11 | g.77208426C>T | CA2615255224 | MYO7A | c.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 |
11 | g.77208427C>A | CA185102 | MYO7A | c.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 |
11 | g.77208427C= | CA1984128413 | MYO7A | c.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= | |
11 | g.77208427C>T | CA2580084982 | MYO7A | c.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 |
11 | g.77208428A= | CA1984128414 | MYO7A | c.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= | |
11 | g.77208428A>C | CA381932453 | MYO7A | c.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 | |
11 | g.77208428A>G | CA381932457 | MYO7A | c.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 |
11 | g.77208428A>T | CA381932455 | MYO7A | c.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 |
11 | g.77208429G>A | CA381932460 | MYO7A | c.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 |
11 | g.77208429G>C | CA381932462 | MYO7A | c.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 | |
11 | g.77208429G>T | CA381932464 | MYO7A | c.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 | |
11 | g.77208429_77208430delinsAT | CA2499221342 | MYO7A | c.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 |
11 | g.77208430G>A | CA381932467 | MYO7A | c.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 |
11 | g.77208430G>C | CA381932469 | MYO7A | c.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 | |
11 | g.77208430G= | CA1984128415 | MYO7A | c.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= | |
11 | g.77208430G>T | CA381932470 | MYO7A | c.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 |
11 | g.77208431T>A | CA381932478 | MYO7A | c.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 | |
11 | g.77208431T>C | CA381932476 | MYO7A | c.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 | |
11 | g.77208431T>G | CA381932474 | MYO7A | c.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 | |
11 | g.77208432C>A | CA475791557 | MYO7A | c.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 |
11 | g.77208432C>G | CA475791558 | MYO7A | c.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 | |
11 | g.77208432C>T | CA475791559 | MYO7A | c.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 | |
11 | g.77208433C>A | CA132405 | MYO7A | c.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 |
11 | g.77208433C= | CA1984128416 | MYO7A | c.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= | |
11 | g.77208433C>G | CA6198859 | MYO7A | c.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 |
11 | g.77208433C>T | CA381932484 | MYO7A | c.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 |
11 | g.77208434T>A | CA381932487 | MYO7A | c.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 | |
11 | g.77208434T>C | CA381932489 | MYO7A | c.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 |
11 | g.77208434T>G | CA381932491 | MYO7A | c.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 |
11 | g.77208434T= | CA1984128417 | MYO7A | c.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= | |
11 | g.77208435C>A | CA475791562 | MYO7A | c.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 | |
11 | g.77208435C>G | CA475791563 | MYO7A | c.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 | |
11 | g.77208435C>T | CA475791564 | MYO7A | c.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 | |
11 | g.77208436A= | CA1984128418 | MYO7A | c.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= | |
11 | g.77208436A>C | CA381932494 | MYO7A | c.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 | |
11 | g.77208436A>G | CA381932499 | MYO7A | c.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 |
11 | g.77208436A>T | CA381932497 | MYO7A | c.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 | |
11 | g.77208437G>A | CA381932502 | MYO7A | c.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 |
11 | g.77208437G>C | CA381932504 | MYO7A | c.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 | |
11 | g.77208437G= | CA1984128419 | MYO7A | c.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= | |
11 | g.77208437G>T | CA381932506 | MYO7A | c.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 |
11 | g.77208438C>A | CA381932509 | MYO7A | c.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 |
11 | g.77208438C= | CA1984128420 | MYO7A | c.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= | |
11 | g.77208438C>G | CA381932511 | MYO7A | c.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 | |
11 | g.77208438C>T | CA475791568 | MYO7A | c.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 |
11 | g.77208439G>A | CA132407 | MYO7A | c.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 |
11 | g.77208439G>C | CA381932515 | MYO7A | c.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 | |
11 | g.77208439G= | CA1984128421 | MYO7A | c.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= | |
11 | g.77208439G>T | CA381932517 | MYO7A | c.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 | |
11 | g.77208440T>A | CA381932520 | MYO7A | c.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 |
11 | g.77208440T>C | CA381932522 | MYO7A | c.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 | |
11 | g.77208440T>G | CA381932524 | MYO7A | c.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 | |
11 | g.77208440T= | CA1984128422 | MYO7A | c.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= | |
11 | g.77208441T>A | CA475791571 | MYO7A | c.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 | |
11 | g.77208441T>C | CA475791572 | MYO7A | c.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 | |
11 | g.77208441T>G | CA475791573 | MYO7A | c.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 | |
11 | g.77208442C>A | CA381932527 | MYO7A | c.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 |
11 | g.77208442C= | CA1984128423 | MYO7A | c.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= | |
11 | g.77208442C>G | CA381932531 | MYO7A | c.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 | |
11 | g.77208442C>T | CA381932529 | MYO7A | c.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 |
11 | g.77208442_77208443insA | CA2568683912 | MYO7A | c.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 | |
11 | g.77208443C>A | CA381932533 | MYO7A | c.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 | |
11 | g.77208443C>G | CA381932535 | MYO7A | c.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 | |
11 | g.77208443C>T | CA381932537 | MYO7A | c.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 | |
11 | g.77208444T>A | CA6198860 | MYO7A | c.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 |
11 | g.77208444T>C | CA475791576 | MYO7A | c.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 | |
11 | g.77208444T>G | CA475791575 | MYO7A | c.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 |
11 | g.77208444T= | CA1984128424 | MYO7A | c.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= | |
11 | g.77208445G>A | CA381932540 | MYO7A | c.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 | |
11 | g.77208445G>C | CA381932542 | MYO7A | c.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 |
11 | g.77208445G= | CA1984128425 | MYO7A | c.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= | |
11 | g.77208445G>T | CA381932544 | MYO7A | c.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 | |
11 | g.77208446A= | CA1984128426 | MYO7A | c.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= | |
11 | g.77208446A>C | CA381932547 | MYO7A | c.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 | |
11 | g.77208446A>G | CA381932549 | MYO7A | c.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 |
11 | g.77208446A>T | CA381932551 | MYO7A | c.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 | |
11 | g.77208447G>A | CA475791578 | MYO7A | c.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 |
11 | g.77208447G>C | CA381932553 | MYO7A | c.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 | |
11 | g.77208447G>T | CA381932555 | MYO7A | c.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 | |
11 | g.77208448A= | CA1984128427 | MYO7A | c.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= | |
11 | g.77208448A>C | CA381932562 | MYO7A | c.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 | |
11 | g.77208448A>G | CA381932558 | MYO7A | c.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 |
11 | g.77208448A>T | CA381932560 | MYO7A | c.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 | |
11 | g.77208449A= | CA1984128428 | MYO7A | c.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= | |
11 | g.77208449A>C | CA381932565 | MYO7A | c.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 | |
11 | g.77208449A>G | CA381932567 | MYO7A | c.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 |
11 | g.77208449A>T | CA381932569 | MYO7A | c.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 | |
11 | g.77208450T>A | CA381932575 | MYO7A | c.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 | |
11 | g.77208450T>C | CA475791579 | MYO7A | c.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 |
11 | g.77208450T>G | CA381932577 | MYO7A | c.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 | |
11 | g.77208451G>A | CA381932580 | MYO7A | c.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 | |
11 | g.77208451G>C | CA381932582 | MYO7A | c.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 |
11 | g.77208451G>T | CA381932584 | MYO7A | c.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 |
11 | g.77208451_77208453del | CA2615255347 | MYO7A | c.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 |
11 | g.77208452A= | CA1984128430 | MYO7A | c.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= | |
11 | g.77208452A>C | CA381932587 | MYO7A | c.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 | |
11 | g.77208452A>G | CA381932589 | MYO7A | c.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 | |
11 | g.77208452A>T | CA6198861 | MYO7A | c.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 |
11 | g.77208452_77208453del | CA2695215063 | MYO7A | c.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 | |
11 | g.77208452_77208455delinsACTT | CA1984128429 | MYO7A | c.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 | |
11 | g.77208453C>A | CA381932600 | MYO7A | c.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 |
11 | g.77208453C= | CA1984128431 | MYO7A | c.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= | |
11 | g.77208453C>G | CA381932598 | MYO7A | c.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 | |
11 | g.77208453C>T | CA475791580 | MYO7A | c.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 |
11 | g.77208459_77208461del | CA278698 | MYO7A | c.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 |
11 | g.77208454T>A | CA381932603 | MYO7A | c.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 | |
11 | g.77208454T>C | CA381932608 | MYO7A | c.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 | |
11 | g.77208454T>G | CA381932605 | MYO7A | c.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 |
11 | g.77208455T>A | CA381932611 | MYO7A | c.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 |
11 | g.77208455T>C | CA381932613 | MYO7A | c.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 | |
11 | g.77208455T>G | CA381932615 | MYO7A | c.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 | |
11 | g.77208456_77208460del | CA912973141 | MYO7A | c.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 | |
11 | g.77208456C>A | CA381932618 | MYO7A | c.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 | |
11 | g.77208456C= | CA1984128432 | MYO7A | c.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= | |
11 | g.77208456C>G | CA381932619 | MYO7A | c.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 | |
11 | g.77208456C>T | CA475791582 | MYO7A | c.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 |
11 | g.77208456_77208460delinsCTTCT | CA1984128433 | MYO7A | c.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 | |
11 | g.77208457T>A | CA381932625 | MYO7A | c.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 | |
11 | g.77208457T>C | CA381932623 | MYO7A | c.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 | |
11 | g.77208457T>G | CA381932621 | MYO7A | c.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 | |
11 | g.77208459_77208462del | CA600710876 | MYO7A | c.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 |
11 | g.77208458T>A | CA381932628 | MYO7A | c.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 | |
11 | g.77208458T>C | CA381932630 | MYO7A | c.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 |
11 | g.77208458T>G | CA381932632 | MYO7A | c.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 | |
11 | g.77208459C>A | CA381932634 | MYO7A | c.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 |
11 | g.77208459C>G | CA381932636 | MYO7A | c.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 | |
11 | g.77208459C>T | CA475791584 | MYO7A | c.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 |
11 | g.77208459_77208462delinsCTTT | CA1984128434 | MYO7A | c.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 | |
11 | g.77208460T>A | CA381932639 | MYO7A | c.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 | |
11 | g.77208460T>C | CA381932643 | MYO7A | c.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 | |
11 | g.77208460T>G | CA381932641 | MYO7A | c.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 | |
11 | g.77208460_77208462del | CA224825214 | MYO7A | c.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 |
11 | g.77208461T>A | CA381932646 | MYO7A | c.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 | |
11 | g.77208461T>C | CA381932648 | MYO7A | c.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 | |
11 | g.77208461T>G | CA381932650 | MYO7A | c.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 | |
11 | g.77208462T>A | CA381932653 | MYO7A | c.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 | |
11 | g.77208462T>C | CA475791588 | MYO7A | c.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 | |
11 | g.77208462T>G | CA381932655 | MYO7A | c.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 | |
11 | g.77208463G>A | CA381932658 | MYO7A | c.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 | |
11 | g.77208463G>C | CA381932660 | MYO7A | c.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 | |
11 | g.77208463G>T | CA381932662 | MYO7A | c.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 |
11 | g.77208464A>C | CA381932665 | MYO7A | c.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 | |
11 | g.77208464A>G | CA381932667 | MYO7A | c.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 | |
11 | g.77208464A>T | CA381932669 | MYO7A | c.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 | |
11 | g.77208465C>A | CA381932670 | MYO7A | c.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 | |
11 | g.77208465C= | CA1984128435 | MYO7A | c.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= | |
11 | g.77208465C>G | CA381932672 | MYO7A | c.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 |
11 | g.77208465C>T | CA475791591 | MYO7A | c.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 |
11 | g.77208466T>A | CA381932675 | MYO7A | c.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 | |
11 | g.77208466T>C | CA381932677 | MYO7A | c.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 | |
11 | g.77208466T>G | CA381932679 | MYO7A | c.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 | |
11 | g.77208467T>A | CA381932682 | MYO7A | c.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 | |
11 | g.77208467T>C | CA381932684 | MYO7A | c.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 | |
11 | g.77208467T>G | CA381932686 | MYO7A | c.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 |
11 | g.77208467T= | CA1984128436 | MYO7A | c.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= | |
11 | g.77208468T>A | CA381932688 | MYO7A | c.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 | |
11 | g.77208468T>C | CA475791595 | MYO7A | c.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 | |
11 | g.77208468T>G | CA381932690 | MYO7A | c.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 | |
11 | g.77208469G>A | CA6198862 | MYO7A | c.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 |
11 | g.77208469G>C | CA381932694 | MYO7A | c.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 | |
11 | g.77208469G= | CA1984128437 | MYO7A | c.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= | |
11 | g.77208469G>T | CA381932696 | MYO7A | c.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 | |
11 | g.77208470T>A | CA381932700 | MYO7A | c.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 | |
11 | g.77208470T>C | CA381932702 | MYO7A | c.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 | |
11 | g.77208470T>G | CA381932704 | MYO7A | c.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 | |
11 | g.77208470_77208477delinsTTCGACAC | CA1984128438 | MYO7A | c.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 | |
11 | g.77208471T>A | CA475791599 | MYO7A | c.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 | |
11 | g.77208471T>C | CA475791600 | MYO7A | c.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 |
11 | g.77208471T>G | CA475791603 | MYO7A | c.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 | |
11 | g.77208471T= | CA1984128439 | MYO7A | c.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= | |
11 | g.77208471_77208472delinsGT | CA2580084985 | MYO7A | c.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 |
11 | g.77208472_77208478del | CA680425206 | MYO7A | c.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 |
11 | g.77208472del | CA2739270721 | MYO7A | c.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 |
11 | g.77208472C>A | CA475791604 | MYO7A | c.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 |
11 | g.77208472C= | CA1984128440 | MYO7A | c.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= | |
11 | g.77208472C>G | CA381932707 | MYO7A | c.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 |
11 | g.77208472C>T | CA278734 | MYO7A | c.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 |
11 | g.77208473G>A | CA6198863 | MYO7A | c.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 |
11 | g.77208473G>C | CA381932711 | MYO7A | c.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 | |
11 | g.77208473G= | CA1984128441 | MYO7A | c.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= | |
11 | g.77208473G>T | CA381932713 | MYO7A | c.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 |
11 | g.77208474A>C | CA475791606 | MYO7A | c.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 | |
11 | g.77208474A>G | CA475791607 | MYO7A | c.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 | |
11 | g.77208474A>T | CA475791608 | MYO7A | c.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 | |
11 | g.77208475C>A | CA381932715 | MYO7A | c.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 | |
11 | g.77208475C>G | CA381932717 | MYO7A | c.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 | |
11 | g.77208475C>T | CA381932719 | MYO7A | c.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 | |
11 | g.77208476A= | CA1984128442 | MYO7A | c.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= | |
11 | g.77208476A>C | CA381932721 | MYO7A | c.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 | |
11 | g.77208476A>G | CA6198864 | MYO7A | c.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 |
11 | g.77208476A>T | CA381932722 | MYO7A | c.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 | |
11 | g.77208477C>A | CA381932723 | MYO7A | c.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 |
11 | g.77208477C= | CA1984128443 | MYO7A | c.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= | |
11 | g.77208477C>G | CA381932724 | MYO7A | c.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 | |
11 | g.77208477C>T | CA132410 | MYO7A | c.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 |