Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.77207270T>ACA2615268182MYO7Ac.5743-19T>A (n.5743-19T>A)
c.3570-19T>A
c.5596-19T>A (n.5596-19T>A)
c.3169-19T>A (n.3169-19T>A)
c.5629-19T>A (n.5629-19T>A)
n.3279-19T>A
n.638T>A
c.5626-19T>A (n.5626-19T>A)
c.5734-19T>A (n.5734-19T>A)
c.5737-19T>A (n.5737-19T>A)
c.5710-19T>A (n.5710-19T>A)
c.5647-19T>A (n.5647-19T>A)
c.5518-19T>A (n.5518-19T>A)
c.5506-19T>A (n.5506-19T>A)
c.5479-19T>A (n.5479-19T>A)
n.6063-19T>A
c.5833-19T>A (n.5833-19T>A)
c.5827-19T>A (n.5827-19T>A)
c.5824-19T>A (n.5824-19T>A)
c.5719-19T>A (n.5719-19T>A)
c.5716-19T>A (n.5716-19T>A)
n.5848-19T>A
n.5763-19T>A
n.5834-19T>A
 gnomAD v4
11g.77207270T>CCA6198821MYO7Ac.5743-19T>C (n.5743-19T>C)
c.3570-19T>C
c.5596-19T>C (n.5596-19T>C)
c.3169-19T>C (n.3169-19T>C)
c.5629-19T>C (n.5629-19T>C)
n.3279-19T>C
n.638T>C
c.5626-19T>C (n.5626-19T>C)
c.5734-19T>C (n.5734-19T>C)
c.5737-19T>C (n.5737-19T>C)
c.5710-19T>C (n.5710-19T>C)
c.5647-19T>C (n.5647-19T>C)
c.5518-19T>C (n.5518-19T>C)
c.5506-19T>C (n.5506-19T>C)
c.5479-19T>C (n.5479-19T>C)
n.6063-19T>C
c.5833-19T>C (n.5833-19T>C)
c.5827-19T>C (n.5827-19T>C)
c.5824-19T>C (n.5824-19T>C)
c.5719-19T>C (n.5719-19T>C)
c.5716-19T>C (n.5716-19T>C)
n.5848-19T>C
n.5763-19T>C
n.5834-19T>C
 ClinVar dbSNP ExAC gnomAD v2
11g.77207270T>GCA2615268184MYO7Ac.5743-19T>G (n.5743-19T>G)
c.3570-19T>G
c.5596-19T>G (n.5596-19T>G)
c.3169-19T>G (n.3169-19T>G)
c.5629-19T>G (n.5629-19T>G)
n.3279-19T>G
n.638T>G
c.5626-19T>G (n.5626-19T>G)
c.5734-19T>G (n.5734-19T>G)
c.5737-19T>G (n.5737-19T>G)
c.5710-19T>G (n.5710-19T>G)
c.5647-19T>G (n.5647-19T>G)
c.5518-19T>G (n.5518-19T>G)
c.5506-19T>G (n.5506-19T>G)
c.5479-19T>G (n.5479-19T>G)
n.6063-19T>G
c.5833-19T>G (n.5833-19T>G)
c.5827-19T>G (n.5827-19T>G)
c.5824-19T>G (n.5824-19T>G)
c.5719-19T>G (n.5719-19T>G)
c.5716-19T>G (n.5716-19T>G)
n.5848-19T>G
n.5763-19T>G
n.5834-19T>G
 ClinVar gnomAD v4
11g.77207270T=CA1984127829MYO7Ac.5743-19T= (n.5743-19T=)
c.3570-19T=
c.5596-19T= (n.5596-19T=)
c.3169-19T= (n.3169-19T=)
c.5629-19T= (n.5629-19T=)
n.3279-19T=
n.638T=
c.5626-19T= (n.5626-19T=)
c.5734-19T= (n.5734-19T=)
c.5737-19T= (n.5737-19T=)
c.5710-19T= (n.5710-19T=)
c.5647-19T= (n.5647-19T=)
c.5518-19T= (n.5518-19T=)
c.5506-19T= (n.5506-19T=)
c.5479-19T= (n.5479-19T=)
n.6063-19T=
c.5833-19T= (n.5833-19T=)
c.5827-19T= (n.5827-19T=)
c.5824-19T= (n.5824-19T=)
c.5719-19T= (n.5719-19T=)
c.5716-19T= (n.5716-19T=)
n.5848-19T=
n.5763-19T=
n.5834-19T=
11g.77207271G>ACA2615268201MYO7Ac.5743-18G>A (n.5743-18G>A)
c.3570-18G>A
c.5596-18G>A (n.5596-18G>A)
c.3169-18G>A (n.3169-18G>A)
c.5629-18G>A (n.5629-18G>A)
n.3279-18G>A
n.639G>A
c.5626-18G>A (n.5626-18G>A)
c.5734-18G>A (n.5734-18G>A)
c.5737-18G>A (n.5737-18G>A)
c.5710-18G>A (n.5710-18G>A)
c.5647-18G>A (n.5647-18G>A)
c.5518-18G>A (n.5518-18G>A)
c.5506-18G>A (n.5506-18G>A)
c.5479-18G>A (n.5479-18G>A)
n.6063-18G>A
c.5833-18G>A (n.5833-18G>A)
c.5827-18G>A (n.5827-18G>A)
c.5824-18G>A (n.5824-18G>A)
c.5719-18G>A (n.5719-18G>A)
c.5716-18G>A (n.5716-18G>A)
n.5848-18G>A
n.5763-18G>A
n.5834-18G>A
 gnomAD v4
11g.77207271G=CA1984127830MYO7Ac.5743-18G= (n.5743-18G=)
c.3570-18G=
c.5596-18G= (n.5596-18G=)
c.3169-18G= (n.3169-18G=)
c.5629-18G= (n.5629-18G=)
n.3279-18G=
n.639G=
c.5626-18G= (n.5626-18G=)
c.5734-18G= (n.5734-18G=)
c.5737-18G= (n.5737-18G=)
c.5710-18G= (n.5710-18G=)
c.5647-18G= (n.5647-18G=)
c.5518-18G= (n.5518-18G=)
c.5506-18G= (n.5506-18G=)
c.5479-18G= (n.5479-18G=)
n.6063-18G=
c.5833-18G= (n.5833-18G=)
c.5827-18G= (n.5827-18G=)
c.5824-18G= (n.5824-18G=)
c.5719-18G= (n.5719-18G=)
c.5716-18G= (n.5716-18G=)
n.5848-18G=
n.5763-18G=
n.5834-18G=
11g.77207271G>TCA1984127831MYO7Ac.5743-18G>T (n.5743-18G>T)
c.3570-18G>T
c.5596-18G>T (n.5596-18G>T)
c.3169-18G>T (n.3169-18G>T)
c.5629-18G>T (n.5629-18G>T)
n.3279-18G>T
n.639G>T
c.5626-18G>T (n.5626-18G>T)
c.5734-18G>T (n.5734-18G>T)
c.5737-18G>T (n.5737-18G>T)
c.5710-18G>T (n.5710-18G>T)
c.5647-18G>T (n.5647-18G>T)
c.5518-18G>T (n.5518-18G>T)
c.5506-18G>T (n.5506-18G>T)
c.5479-18G>T (n.5479-18G>T)
n.6063-18G>T
c.5833-18G>T (n.5833-18G>T)
c.5827-18G>T (n.5827-18G>T)
c.5824-18G>T (n.5824-18G>T)
c.5719-18G>T (n.5719-18G>T)
c.5716-18G>T (n.5716-18G>T)
n.5848-18G>T
n.5763-18G>T
n.5834-18G>T
 dbSNP gnomAD v4
11g.77207271_77207290delinsGCTCACTGCCCCTCCCAGGCCA1984127832MYO7Ac.5743-18_5744delinsGCTCACTGCCCCTCCCAGGC
c.3570-18_3571delinsGCTCACTGCCCCTCCCAGGC
c.5596-18_5597delinsGCTCACTGCCCCTCCCAGGC
c.3169-18_3170delinsGCTCACTGCCCCTCCCAGGC
c.5629-18_5630delinsGCTCACTGCCCCTCCCAGGC
n.3279-18_3280delinsGCTCACTGCCCCTCCCAGGC
n.639_658delinsGCTCACTGCCCCTCCCAGGC
c.5626-18_5627delinsGCTCACTGCCCCTCCCAGGC
c.5734-18_5735delinsGCTCACTGCCCCTCCCAGGC
c.5737-18_5738delinsGCTCACTGCCCCTCCCAGGC
c.5710-18_5711delinsGCTCACTGCCCCTCCCAGGC
c.5647-18_5648delinsGCTCACTGCCCCTCCCAGGC
c.5518-18_5519delinsGCTCACTGCCCCTCCCAGGC
c.5506-18_5507delinsGCTCACTGCCCCTCCCAGGC
c.5479-18_5480delinsGCTCACTGCCCCTCCCAGGC
n.6063-18_6064delinsGCTCACTGCCCCTCCCAGGC
c.5833-18_5834delinsGCTCACTGCCCCTCCCAGGC
c.5827-18_5828delinsGCTCACTGCCCCTCCCAGGC
c.5824-18_5825delinsGCTCACTGCCCCTCCCAGGC
c.5719-18_5720delinsGCTCACTGCCCCTCCCAGGC
c.5716-18_5717delinsGCTCACTGCCCCTCCCAGGC
n.5848-18_5849delinsGCTCACTGCCCCTCCCAGGC
n.5763-18_5764delinsGCTCACTGCCCCTCCCAGGC
n.5834-18_5835delinsGCTCACTGCCCCTCCCAGGC
11g.77207272C>ACA2615268210MYO7Ac.5743-17C>A (n.5743-17C>A)
c.3570-17C>A
c.5596-17C>A (n.5596-17C>A)
c.3169-17C>A (n.3169-17C>A)
c.5629-17C>A (n.5629-17C>A)
n.3279-17C>A
n.640C>A
c.5626-17C>A (n.5626-17C>A)
c.5734-17C>A (n.5734-17C>A)
c.5737-17C>A (n.5737-17C>A)
c.5710-17C>A (n.5710-17C>A)
c.5647-17C>A (n.5647-17C>A)
c.5518-17C>A (n.5518-17C>A)
c.5506-17C>A (n.5506-17C>A)
c.5479-17C>A (n.5479-17C>A)
n.6063-17C>A
c.5833-17C>A (n.5833-17C>A)
c.5827-17C>A (n.5827-17C>A)
c.5824-17C>A (n.5824-17C>A)
c.5719-17C>A (n.5719-17C>A)
c.5716-17C>A (n.5716-17C>A)
n.5848-17C>A
n.5763-17C>A
n.5834-17C>A
 gnomAD v4
11g.77207272C=CA1984127834MYO7Ac.5743-17C= (n.5743-17C=)
c.3570-17C=
c.5596-17C= (n.5596-17C=)
c.3169-17C= (n.3169-17C=)
c.5629-17C= (n.5629-17C=)
n.3279-17C=
n.640C=
c.5626-17C= (n.5626-17C=)
c.5734-17C= (n.5734-17C=)
c.5737-17C= (n.5737-17C=)
c.5710-17C= (n.5710-17C=)
c.5647-17C= (n.5647-17C=)
c.5518-17C= (n.5518-17C=)
c.5506-17C= (n.5506-17C=)
c.5479-17C= (n.5479-17C=)
n.6063-17C=
c.5833-17C= (n.5833-17C=)
c.5827-17C= (n.5827-17C=)
c.5824-17C= (n.5824-17C=)
c.5719-17C= (n.5719-17C=)
c.5716-17C= (n.5716-17C=)
n.5848-17C=
n.5763-17C=
n.5834-17C=
11g.77207272C>GCA2526670806MYO7Ac.5743-17C>G (n.5743-17C>G)
c.3570-17C>G
c.5596-17C>G (n.5596-17C>G)
c.3169-17C>G (n.3169-17C>G)
c.5629-17C>G (n.5629-17C>G)
n.3279-17C>G
n.640C>G
c.5626-17C>G (n.5626-17C>G)
c.5734-17C>G (n.5734-17C>G)
c.5737-17C>G (n.5737-17C>G)
c.5710-17C>G (n.5710-17C>G)
c.5647-17C>G (n.5647-17C>G)
c.5518-17C>G (n.5518-17C>G)
c.5506-17C>G (n.5506-17C>G)
c.5479-17C>G (n.5479-17C>G)
n.6063-17C>G
c.5833-17C>G (n.5833-17C>G)
c.5827-17C>G (n.5827-17C>G)
c.5824-17C>G (n.5824-17C>G)
c.5719-17C>G (n.5719-17C>G)
c.5716-17C>G (n.5716-17C>G)
n.5848-17C>G
n.5763-17C>G
n.5834-17C>G
11g.77207272C>TCA292405MYO7Ac.5743-17C>T (n.5743-17C>T)
c.3570-17C>T
c.5596-17C>T (n.5596-17C>T)
c.3169-17C>T (n.3169-17C>T)
c.5629-17C>T (n.5629-17C>T)
n.3279-17C>T
n.640C>T
c.5626-17C>T (n.5626-17C>T)
c.5734-17C>T (n.5734-17C>T)
c.5737-17C>T (n.5737-17C>T)
c.5710-17C>T (n.5710-17C>T)
c.5647-17C>T (n.5647-17C>T)
c.5518-17C>T (n.5518-17C>T)
c.5506-17C>T (n.5506-17C>T)
c.5479-17C>T (n.5479-17C>T)
n.6063-17C>T
c.5833-17C>T (n.5833-17C>T)
c.5827-17C>T (n.5827-17C>T)
c.5824-17C>T (n.5824-17C>T)
c.5719-17C>T (n.5719-17C>T)
c.5716-17C>T (n.5716-17C>T)
n.5848-17C>T
n.5763-17C>T
n.5834-17C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77207274_77207292delCA1984127833MYO7Ac.5743-15_5746del
c.3570-15_3573del
c.5596-15_5599del
c.3169-15_3172del
c.5629-15_5632del
n.3279-15_3282del
n.642_660del
c.5626-15_5629del
c.5734-15_5737del
c.5737-15_5740del
c.5710-15_5713del
c.5647-15_5650del
c.5518-15_5521del
c.5506-15_5509del
c.5479-15_5482del
n.6063-15_6066del
c.5833-15_5836del
c.5827-15_5830del
c.5824-15_5827del
c.5719-15_5722del
c.5716-15_5719del
n.5848-15_5851del
n.5763-15_5766del
n.5834-15_5837del
 dbSNP
11g.77207273T>CCA2615268213MYO7Ac.5743-16T>C (n.5743-16T>C)
c.3570-16T>C
c.5596-16T>C (n.5596-16T>C)
c.3169-16T>C (n.3169-16T>C)
c.5629-16T>C (n.5629-16T>C)
n.3279-16T>C
n.641T>C
c.5626-16T>C (n.5626-16T>C)
c.5734-16T>C (n.5734-16T>C)
c.5737-16T>C (n.5737-16T>C)
c.5710-16T>C (n.5710-16T>C)
c.5647-16T>C (n.5647-16T>C)
c.5518-16T>C (n.5518-16T>C)
c.5506-16T>C (n.5506-16T>C)
c.5479-16T>C (n.5479-16T>C)
n.6063-16T>C
c.5833-16T>C (n.5833-16T>C)
c.5827-16T>C (n.5827-16T>C)
c.5824-16T>C (n.5824-16T>C)
c.5719-16T>C (n.5719-16T>C)
c.5716-16T>C (n.5716-16T>C)
n.5848-16T>C
n.5763-16T>C
n.5834-16T>C
 gnomAD v4
11g.77207274C>ACA2615268214MYO7Ac.5743-15C>A (n.5743-15C>A)
c.3570-15C>A
c.5596-15C>A (n.5596-15C>A)
c.3169-15C>A (n.3169-15C>A)
c.5629-15C>A (n.5629-15C>A)
n.3279-15C>A
n.642C>A
c.5626-15C>A (n.5626-15C>A)
c.5734-15C>A (n.5734-15C>A)
c.5737-15C>A (n.5737-15C>A)
c.5710-15C>A (n.5710-15C>A)
c.5647-15C>A (n.5647-15C>A)
c.5518-15C>A (n.5518-15C>A)
c.5506-15C>A (n.5506-15C>A)
c.5479-15C>A (n.5479-15C>A)
n.6063-15C>A
c.5833-15C>A (n.5833-15C>A)
c.5827-15C>A (n.5827-15C>A)
c.5824-15C>A (n.5824-15C>A)
c.5719-15C>A (n.5719-15C>A)
c.5716-15C>A (n.5716-15C>A)
n.5848-15C>A
n.5763-15C>A
n.5834-15C>A
 gnomAD v4
11g.77207274C=CA1984127835MYO7Ac.5743-15C= (n.5743-15C=)
c.3570-15C=
c.5596-15C= (n.5596-15C=)
c.3169-15C= (n.3169-15C=)
c.5629-15C= (n.5629-15C=)
n.3279-15C=
n.642C=
c.5626-15C= (n.5626-15C=)
c.5734-15C= (n.5734-15C=)
c.5737-15C= (n.5737-15C=)
c.5710-15C= (n.5710-15C=)
c.5647-15C= (n.5647-15C=)
c.5518-15C= (n.5518-15C=)
c.5506-15C= (n.5506-15C=)
c.5479-15C= (n.5479-15C=)
n.6063-15C=
c.5833-15C= (n.5833-15C=)
c.5827-15C= (n.5827-15C=)
c.5824-15C= (n.5824-15C=)
c.5719-15C= (n.5719-15C=)
c.5716-15C= (n.5716-15C=)
n.5848-15C=
n.5763-15C=
n.5834-15C=
11g.77207274C>GCA2615268216MYO7Ac.5743-15C>G (n.5743-15C>G)
c.3570-15C>G
c.5596-15C>G (n.5596-15C>G)
c.3169-15C>G (n.3169-15C>G)
c.5629-15C>G (n.5629-15C>G)
n.3279-15C>G
n.642C>G
c.5626-15C>G (n.5626-15C>G)
c.5734-15C>G (n.5734-15C>G)
c.5737-15C>G (n.5737-15C>G)
c.5710-15C>G (n.5710-15C>G)
c.5647-15C>G (n.5647-15C>G)
c.5518-15C>G (n.5518-15C>G)
c.5506-15C>G (n.5506-15C>G)
c.5479-15C>G (n.5479-15C>G)
n.6063-15C>G
c.5833-15C>G (n.5833-15C>G)
c.5827-15C>G (n.5827-15C>G)
c.5824-15C>G (n.5824-15C>G)
c.5719-15C>G (n.5719-15C>G)
c.5716-15C>G (n.5716-15C>G)
n.5848-15C>G
n.5763-15C>G
n.5834-15C>G
 gnomAD v4
11g.77207274C>TCA600350340MYO7Ac.5743-15C>T (n.5743-15C>T)
c.3570-15C>T
c.5596-15C>T (n.5596-15C>T)
c.3169-15C>T (n.3169-15C>T)
c.5629-15C>T (n.5629-15C>T)
n.3279-15C>T
n.642C>T
c.5626-15C>T (n.5626-15C>T)
c.5734-15C>T (n.5734-15C>T)
c.5737-15C>T (n.5737-15C>T)
c.5710-15C>T (n.5710-15C>T)
c.5647-15C>T (n.5647-15C>T)
c.5518-15C>T (n.5518-15C>T)
c.5506-15C>T (n.5506-15C>T)
c.5479-15C>T (n.5479-15C>T)
n.6063-15C>T
c.5833-15C>T (n.5833-15C>T)
c.5827-15C>T (n.5827-15C>T)
c.5824-15C>T (n.5824-15C>T)
c.5719-15C>T (n.5719-15C>T)
c.5716-15C>T (n.5716-15C>T)
n.5848-15C>T
n.5763-15C>T
n.5834-15C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.77207275A=CA1984127836MYO7Ac.5743-14A= (n.5743-14A=)
c.3570-14A=
c.5596-14A= (n.5596-14A=)
c.3169-14A= (n.3169-14A=)
c.5629-14A= (n.5629-14A=)
n.3279-14A=
n.643A=
c.5626-14A= (n.5626-14A=)
c.5734-14A= (n.5734-14A=)
c.5737-14A= (n.5737-14A=)
c.5710-14A= (n.5710-14A=)
c.5647-14A= (n.5647-14A=)
c.5518-14A= (n.5518-14A=)
c.5506-14A= (n.5506-14A=)
c.5479-14A= (n.5479-14A=)
n.6063-14A=
c.5833-14A= (n.5833-14A=)
c.5827-14A= (n.5827-14A=)
c.5824-14A= (n.5824-14A=)
c.5719-14A= (n.5719-14A=)
c.5716-14A= (n.5716-14A=)
n.5848-14A=
n.5763-14A=
n.5834-14A=
11g.77207275A>CCA6198822MYO7Ac.5743-14A>C (n.5743-14A>C)
c.3570-14A>C
c.5596-14A>C (n.5596-14A>C)
c.3169-14A>C (n.3169-14A>C)
c.5629-14A>C (n.5629-14A>C)
n.3279-14A>C
n.643A>C
c.5626-14A>C (n.5626-14A>C)
c.5734-14A>C (n.5734-14A>C)
c.5737-14A>C (n.5737-14A>C)
c.5710-14A>C (n.5710-14A>C)
c.5647-14A>C (n.5647-14A>C)
c.5518-14A>C (n.5518-14A>C)
c.5506-14A>C (n.5506-14A>C)
c.5479-14A>C (n.5479-14A>C)
n.6063-14A>C
c.5833-14A>C (n.5833-14A>C)
c.5827-14A>C (n.5827-14A>C)
c.5824-14A>C (n.5824-14A>C)
c.5719-14A>C (n.5719-14A>C)
c.5716-14A>C (n.5716-14A>C)
n.5848-14A>C
n.5763-14A>C
n.5834-14A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77207276C>ACA2615268224MYO7Ac.5743-13C>A (n.5743-13C>A)
c.3570-13C>A
c.5596-13C>A (n.5596-13C>A)
c.3169-13C>A (n.3169-13C>A)
c.5629-13C>A (n.5629-13C>A)
n.3279-13C>A
n.644C>A
c.5626-13C>A (n.5626-13C>A)
c.5734-13C>A (n.5734-13C>A)
c.5737-13C>A (n.5737-13C>A)
c.5710-13C>A (n.5710-13C>A)
c.5647-13C>A (n.5647-13C>A)
c.5518-13C>A (n.5518-13C>A)
c.5506-13C>A (n.5506-13C>A)
c.5479-13C>A (n.5479-13C>A)
n.6063-13C>A
c.5833-13C>A (n.5833-13C>A)
c.5827-13C>A (n.5827-13C>A)
c.5824-13C>A (n.5824-13C>A)
c.5719-13C>A (n.5719-13C>A)
c.5716-13C>A (n.5716-13C>A)
n.5848-13C>A
n.5763-13C>A
n.5834-13C>A
 gnomAD v4
11g.77207276C>TCA2615268225MYO7Ac.5743-13C>T (n.5743-13C>T)
c.3570-13C>T
c.5596-13C>T (n.5596-13C>T)
c.3169-13C>T (n.3169-13C>T)
c.5629-13C>T (n.5629-13C>T)
n.3279-13C>T
n.644C>T
c.5626-13C>T (n.5626-13C>T)
c.5734-13C>T (n.5734-13C>T)
c.5737-13C>T (n.5737-13C>T)
c.5710-13C>T (n.5710-13C>T)
c.5647-13C>T (n.5647-13C>T)
c.5518-13C>T (n.5518-13C>T)
c.5506-13C>T (n.5506-13C>T)
c.5479-13C>T (n.5479-13C>T)
n.6063-13C>T
c.5833-13C>T (n.5833-13C>T)
c.5827-13C>T (n.5827-13C>T)
c.5824-13C>T (n.5824-13C>T)
c.5719-13C>T (n.5719-13C>T)
c.5716-13C>T (n.5716-13C>T)
n.5848-13C>T
n.5763-13C>T
n.5834-13C>T
 gnomAD v4
11g.77207277T>ACA939791402MYO7Ac.5743-12T>A (n.5743-12T>A)
c.3570-12T>A
c.5596-12T>A (n.5596-12T>A)
c.3169-12T>A (n.3169-12T>A)
c.5629-12T>A (n.5629-12T>A)
n.3279-12T>A
n.645T>A
c.5626-12T>A (n.5626-12T>A)
c.5734-12T>A (n.5734-12T>A)
c.5737-12T>A (n.5737-12T>A)
c.5710-12T>A (n.5710-12T>A)
c.5647-12T>A (n.5647-12T>A)
c.5518-12T>A (n.5518-12T>A)
c.5506-12T>A (n.5506-12T>A)
c.5479-12T>A (n.5479-12T>A)
n.6063-12T>A
c.5833-12T>A (n.5833-12T>A)
c.5827-12T>A (n.5827-12T>A)
c.5824-12T>A (n.5824-12T>A)
c.5719-12T>A (n.5719-12T>A)
c.5716-12T>A (n.5716-12T>A)
n.5848-12T>A
n.5763-12T>A
n.5834-12T>A
 gnomAD v3 gnomAD v4
11g.77207277T>CCA132399MYO7Ac.5743-12T>C (n.5743-12T>C)
c.3570-12T>C
c.5596-12T>C (n.5596-12T>C)
c.3169-12T>C (n.3169-12T>C)
c.5629-12T>C (n.5629-12T>C)
n.3279-12T>C
n.645T>C
c.5626-12T>C (n.5626-12T>C)
c.5734-12T>C (n.5734-12T>C)
c.5737-12T>C (n.5737-12T>C)
c.5710-12T>C (n.5710-12T>C)
c.5647-12T>C (n.5647-12T>C)
c.5518-12T>C (n.5518-12T>C)
c.5506-12T>C (n.5506-12T>C)
c.5479-12T>C (n.5479-12T>C)
n.6063-12T>C
c.5833-12T>C (n.5833-12T>C)
c.5827-12T>C (n.5827-12T>C)
c.5824-12T>C (n.5824-12T>C)
c.5719-12T>C (n.5719-12T>C)
c.5716-12T>C (n.5716-12T>C)
n.5848-12T>C
n.5763-12T>C
n.5834-12T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77207277T>GCA2581032916MYO7Ac.5743-12T>G (n.5743-12T>G)
c.3570-12T>G
c.5596-12T>G (n.5596-12T>G)
c.3169-12T>G (n.3169-12T>G)
c.5629-12T>G (n.5629-12T>G)
n.3279-12T>G
n.645T>G
c.5626-12T>G (n.5626-12T>G)
c.5734-12T>G (n.5734-12T>G)
c.5737-12T>G (n.5737-12T>G)
c.5710-12T>G (n.5710-12T>G)
c.5647-12T>G (n.5647-12T>G)
c.5518-12T>G (n.5518-12T>G)
c.5506-12T>G (n.5506-12T>G)
c.5479-12T>G (n.5479-12T>G)
n.6063-12T>G
c.5833-12T>G (n.5833-12T>G)
c.5827-12T>G (n.5827-12T>G)
c.5824-12T>G (n.5824-12T>G)
c.5719-12T>G (n.5719-12T>G)
c.5716-12T>G (n.5716-12T>G)
n.5848-12T>G
n.5763-12T>G
n.5834-12T>G
 gnomAD v4
11g.77207277T=CA1984127837MYO7Ac.5743-12T= (n.5743-12T=)
c.3570-12T=
c.5596-12T= (n.5596-12T=)
c.3169-12T= (n.3169-12T=)
c.5629-12T= (n.5629-12T=)
n.3279-12T=
n.645T=
c.5626-12T= (n.5626-12T=)
c.5734-12T= (n.5734-12T=)
c.5737-12T= (n.5737-12T=)
c.5710-12T= (n.5710-12T=)
c.5647-12T= (n.5647-12T=)
c.5518-12T= (n.5518-12T=)
c.5506-12T= (n.5506-12T=)
c.5479-12T= (n.5479-12T=)
n.6063-12T=
c.5833-12T= (n.5833-12T=)
c.5827-12T= (n.5827-12T=)
c.5824-12T= (n.5824-12T=)
c.5719-12T= (n.5719-12T=)
c.5716-12T= (n.5716-12T=)
n.5848-12T=
n.5763-12T=
n.5834-12T=
11g.77207277_77207278delinsCACA2573147837MYO7Ac.5743-12_5743-11delinsCA (n.5743-12_5743-11delinsCA)
c.3570-12_3570-11delinsCA
c.5596-12_5596-11delinsCA (n.5596-12_5596-11delinsCA)
c.3169-12_3169-11delinsCA (n.3169-12_3169-11delinsCA)
c.5629-12_5629-11delinsCA (n.5629-12_5629-11delinsCA)
n.3279-12_3279-11delinsCA
n.645_646delinsCA
c.5626-12_5626-11delinsCA (n.5626-12_5626-11delinsCA)
c.5734-12_5734-11delinsCA (n.5734-12_5734-11delinsCA)
c.5737-12_5737-11delinsCA (n.5737-12_5737-11delinsCA)
c.5710-12_5710-11delinsCA (n.5710-12_5710-11delinsCA)
c.5647-12_5647-11delinsCA (n.5647-12_5647-11delinsCA)
c.5518-12_5518-11delinsCA (n.5518-12_5518-11delinsCA)
c.5506-12_5506-11delinsCA (n.5506-12_5506-11delinsCA)
c.5479-12_5479-11delinsCA (n.5479-12_5479-11delinsCA)
n.6063-12_6063-11delinsCA
c.5833-12_5833-11delinsCA (n.5833-12_5833-11delinsCA)
c.5827-12_5827-11delinsCA (n.5827-12_5827-11delinsCA)
c.5824-12_5824-11delinsCA (n.5824-12_5824-11delinsCA)
c.5719-12_5719-11delinsCA (n.5719-12_5719-11delinsCA)
c.5716-12_5716-11delinsCA (n.5716-12_5716-11delinsCA)
n.5848-12_5848-11delinsCA
n.5763-12_5763-11delinsCA
n.5834-12_5834-11delinsCA
 ClinVar
11g.77207278G>ACA224854949MYO7Ac.5743-11G>A (n.5743-11G>A)
c.3570-11G>A
c.5596-11G>A (n.5596-11G>A)
c.3169-11G>A (n.3169-11G>A)
c.5629-11G>A (n.5629-11G>A)
n.3279-11G>A
n.646G>A
c.5626-11G>A (n.5626-11G>A)
c.5734-11G>A (n.5734-11G>A)
c.5737-11G>A (n.5737-11G>A)
c.5710-11G>A (n.5710-11G>A)
c.5647-11G>A (n.5647-11G>A)
c.5518-11G>A (n.5518-11G>A)
c.5506-11G>A (n.5506-11G>A)
c.5479-11G>A (n.5479-11G>A)
n.6063-11G>A
c.5833-11G>A (n.5833-11G>A)
c.5827-11G>A (n.5827-11G>A)
c.5824-11G>A (n.5824-11G>A)
c.5719-11G>A (n.5719-11G>A)
c.5716-11G>A (n.5716-11G>A)
n.5848-11G>A
n.5763-11G>A
n.5834-11G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.77207278G=CA1984127838MYO7Ac.5743-11G= (n.5743-11G=)
c.3570-11G=
c.5596-11G= (n.5596-11G=)
c.3169-11G= (n.3169-11G=)
c.5629-11G= (n.5629-11G=)
n.3279-11G=
n.646G=
c.5626-11G= (n.5626-11G=)
c.5734-11G= (n.5734-11G=)
c.5737-11G= (n.5737-11G=)
c.5710-11G= (n.5710-11G=)
c.5647-11G= (n.5647-11G=)
c.5518-11G= (n.5518-11G=)
c.5506-11G= (n.5506-11G=)
c.5479-11G= (n.5479-11G=)
n.6063-11G=
c.5833-11G= (n.5833-11G=)
c.5827-11G= (n.5827-11G=)
c.5824-11G= (n.5824-11G=)
c.5719-11G= (n.5719-11G=)
c.5716-11G= (n.5716-11G=)
n.5848-11G=
n.5763-11G=
n.5834-11G=
11g.77207279C>ACA2615268234MYO7Ac.5743-10C>A (n.5743-10C>A)
c.3570-10C>A
c.5596-10C>A (n.5596-10C>A)
c.3169-10C>A (n.3169-10C>A)
c.5629-10C>A (n.5629-10C>A)
n.3279-10C>A
n.647C>A
c.5626-10C>A (n.5626-10C>A)
c.5734-10C>A (n.5734-10C>A)
c.5737-10C>A (n.5737-10C>A)
c.5710-10C>A (n.5710-10C>A)
c.5647-10C>A (n.5647-10C>A)
c.5518-10C>A (n.5518-10C>A)
c.5506-10C>A (n.5506-10C>A)
c.5479-10C>A (n.5479-10C>A)
n.6063-10C>A
c.5833-10C>A (n.5833-10C>A)
c.5827-10C>A (n.5827-10C>A)
c.5824-10C>A (n.5824-10C>A)
c.5719-10C>A (n.5719-10C>A)
c.5716-10C>A (n.5716-10C>A)
n.5848-10C>A
n.5763-10C>A
n.5834-10C>A
 gnomAD v4
11g.77207279C=CA1984127839MYO7Ac.5743-10C= (n.5743-10C=)
c.3570-10C=
c.5596-10C= (n.5596-10C=)
c.3169-10C= (n.3169-10C=)
c.5629-10C= (n.5629-10C=)
n.3279-10C=
n.647C=
c.5626-10C= (n.5626-10C=)
c.5734-10C= (n.5734-10C=)
c.5737-10C= (n.5737-10C=)
c.5710-10C= (n.5710-10C=)
c.5647-10C= (n.5647-10C=)
c.5518-10C= (n.5518-10C=)
c.5506-10C= (n.5506-10C=)
c.5479-10C= (n.5479-10C=)
n.6063-10C=
c.5833-10C= (n.5833-10C=)
c.5827-10C= (n.5827-10C=)
c.5824-10C= (n.5824-10C=)
c.5719-10C= (n.5719-10C=)
c.5716-10C= (n.5716-10C=)
n.5848-10C=
n.5763-10C=
n.5834-10C=
11g.77207279C>GCA6198823MYO7Ac.5743-10C>G (n.5743-10C>G)
c.3570-10C>G
c.5596-10C>G (n.5596-10C>G)
c.3169-10C>G (n.3169-10C>G)
c.5629-10C>G (n.5629-10C>G)
n.3279-10C>G
n.647C>G
c.5626-10C>G (n.5626-10C>G)
c.5734-10C>G (n.5734-10C>G)
c.5737-10C>G (n.5737-10C>G)
c.5710-10C>G (n.5710-10C>G)
c.5647-10C>G (n.5647-10C>G)
c.5518-10C>G (n.5518-10C>G)
c.5506-10C>G (n.5506-10C>G)
c.5479-10C>G (n.5479-10C>G)
n.6063-10C>G
c.5833-10C>G (n.5833-10C>G)
c.5827-10C>G (n.5827-10C>G)
c.5824-10C>G (n.5824-10C>G)
c.5719-10C>G (n.5719-10C>G)
c.5716-10C>G (n.5716-10C>G)
n.5848-10C>G
n.5763-10C>G
n.5834-10C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.77207279C>TCA224854951MYO7Ac.5743-10C>T (n.5743-10C>T)
c.3570-10C>T
c.5596-10C>T (n.5596-10C>T)
c.3169-10C>T (n.3169-10C>T)
c.5629-10C>T (n.5629-10C>T)
n.3279-10C>T
n.647C>T
c.5626-10C>T (n.5626-10C>T)
c.5734-10C>T (n.5734-10C>T)
c.5737-10C>T (n.5737-10C>T)
c.5710-10C>T (n.5710-10C>T)
c.5647-10C>T (n.5647-10C>T)
c.5518-10C>T (n.5518-10C>T)
c.5506-10C>T (n.5506-10C>T)
c.5479-10C>T (n.5479-10C>T)
n.6063-10C>T
c.5833-10C>T (n.5833-10C>T)
c.5827-10C>T (n.5827-10C>T)
c.5824-10C>T (n.5824-10C>T)
c.5719-10C>T (n.5719-10C>T)
c.5716-10C>T (n.5716-10C>T)
n.5848-10C>T
n.5763-10C>T
n.5834-10C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.77207282delCA2615268235MYO7Ac.5743-7del (n.5743-7del)
c.3570-7del
c.5596-7del (n.5596-7del)
c.3169-7del (n.3169-7del)
c.5629-7del (n.5629-7del)
n.3279-7del
n.650del
c.5626-7del (n.5626-7del)
c.5734-7del (n.5734-7del)
c.5737-7del (n.5737-7del)
c.5710-7del (n.5710-7del)
c.5647-7del (n.5647-7del)
c.5518-7del (n.5518-7del)
c.5506-7del (n.5506-7del)
c.5479-7del (n.5479-7del)
n.6063-7del
c.5833-7del (n.5833-7del)
c.5827-7del (n.5827-7del)
c.5824-7del (n.5824-7del)
c.5719-7del (n.5719-7del)
c.5716-7del (n.5716-7del)
n.5848-7del
n.5763-7del
n.5834-7del
 gnomAD v4
11g.77207280C>ACA2615268242MYO7Ac.5743-9C>A (n.5743-9C>A)
c.3570-9C>A
c.5596-9C>A (n.5596-9C>A)
c.3169-9C>A (n.3169-9C>A)
c.5629-9C>A (n.5629-9C>A)
n.3279-9C>A
n.648C>A
c.5626-9C>A (n.5626-9C>A)
c.5734-9C>A (n.5734-9C>A)
c.5737-9C>A (n.5737-9C>A)
c.5710-9C>A (n.5710-9C>A)
c.5647-9C>A (n.5647-9C>A)
c.5518-9C>A (n.5518-9C>A)
c.5506-9C>A (n.5506-9C>A)
c.5479-9C>A (n.5479-9C>A)
n.6063-9C>A
c.5833-9C>A (n.5833-9C>A)
c.5827-9C>A (n.5827-9C>A)
c.5824-9C>A (n.5824-9C>A)
c.5719-9C>A (n.5719-9C>A)
c.5716-9C>A (n.5716-9C>A)
n.5848-9C>A
n.5763-9C>A
n.5834-9C>A
 gnomAD v4
11g.77207280C>GCA2580084971MYO7Ac.5743-9C>G (n.5743-9C>G)
c.3570-9C>G
c.5596-9C>G (n.5596-9C>G)
c.3169-9C>G (n.3169-9C>G)
c.5629-9C>G (n.5629-9C>G)
n.3279-9C>G
n.648C>G
c.5626-9C>G (n.5626-9C>G)
c.5734-9C>G (n.5734-9C>G)
c.5737-9C>G (n.5737-9C>G)
c.5710-9C>G (n.5710-9C>G)
c.5647-9C>G (n.5647-9C>G)
c.5518-9C>G (n.5518-9C>G)
c.5506-9C>G (n.5506-9C>G)
c.5479-9C>G (n.5479-9C>G)
n.6063-9C>G
c.5833-9C>G (n.5833-9C>G)
c.5827-9C>G (n.5827-9C>G)
c.5824-9C>G (n.5824-9C>G)
c.5719-9C>G (n.5719-9C>G)
c.5716-9C>G (n.5716-9C>G)
n.5848-9C>G
n.5763-9C>G
n.5834-9C>G
 ClinVar gnomAD v4
11g.77207283_77207286delCA2697548850MYO7Ac.5743-6_5743-3del (n.5743-6_5743-3del)
c.3570-6_3570-3del
c.5596-6_5596-3del (n.5596-6_5596-3del)
c.3169-6_3169-3del (n.3169-6_3169-3del)
c.5629-6_5629-3del (n.5629-6_5629-3del)
n.3279-6_3279-3del
n.651_654del
c.5626-6_5626-3del (n.5626-6_5626-3del)
c.5734-6_5734-3del (n.5734-6_5734-3del)
c.5737-6_5737-3del (n.5737-6_5737-3del)
c.5710-6_5710-3del (n.5710-6_5710-3del)
c.5647-6_5647-3del (n.5647-6_5647-3del)
c.5518-6_5518-3del (n.5518-6_5518-3del)
c.5506-6_5506-3del (n.5506-6_5506-3del)
c.5479-6_5479-3del (n.5479-6_5479-3del)
n.6063-6_6063-3del
c.5833-6_5833-3del (n.5833-6_5833-3del)
c.5827-6_5827-3del (n.5827-6_5827-3del)
c.5824-6_5824-3del (n.5824-6_5824-3del)
c.5719-6_5719-3del (n.5719-6_5719-3del)
c.5716-6_5716-3del (n.5716-6_5716-3del)
n.5848-6_5848-3del
n.5763-6_5763-3del
n.5834-6_5834-3del
 ClinVar
11g.77207281C>ACA2615268252MYO7Ac.5743-8C>A (n.5743-8C>A)
c.3570-8C>A
c.5596-8C>A (n.5596-8C>A)
c.3169-8C>A (n.3169-8C>A)
c.5629-8C>A (n.5629-8C>A)
n.3279-8C>A
n.649C>A
c.5626-8C>A (n.5626-8C>A)
c.5734-8C>A (n.5734-8C>A)
c.5737-8C>A (n.5737-8C>A)
c.5710-8C>A (n.5710-8C>A)
c.5647-8C>A (n.5647-8C>A)
c.5518-8C>A (n.5518-8C>A)
c.5506-8C>A (n.5506-8C>A)
c.5479-8C>A (n.5479-8C>A)
n.6063-8C>A
c.5833-8C>A (n.5833-8C>A)
c.5827-8C>A (n.5827-8C>A)
c.5824-8C>A (n.5824-8C>A)
c.5719-8C>A (n.5719-8C>A)
c.5716-8C>A (n.5716-8C>A)
n.5848-8C>A
n.5763-8C>A
n.5834-8C>A
 gnomAD v4
11g.77207281C>TCA2615268253MYO7Ac.5743-8C>T (n.5743-8C>T)
c.3570-8C>T
c.5596-8C>T (n.5596-8C>T)
c.3169-8C>T (n.3169-8C>T)
c.5629-8C>T (n.5629-8C>T)
n.3279-8C>T
n.649C>T
c.5626-8C>T (n.5626-8C>T)
c.5734-8C>T (n.5734-8C>T)
c.5737-8C>T (n.5737-8C>T)
c.5710-8C>T (n.5710-8C>T)
c.5647-8C>T (n.5647-8C>T)
c.5518-8C>T (n.5518-8C>T)
c.5506-8C>T (n.5506-8C>T)
c.5479-8C>T (n.5479-8C>T)
n.6063-8C>T
c.5833-8C>T (n.5833-8C>T)
c.5827-8C>T (n.5827-8C>T)
c.5824-8C>T (n.5824-8C>T)
c.5719-8C>T (n.5719-8C>T)
c.5716-8C>T (n.5716-8C>T)
n.5848-8C>T
n.5763-8C>T
n.5834-8C>T
 gnomAD v4
11g.77207282C>ACA2615268254MYO7Ac.5743-7C>A (n.5743-7C>A)
c.3570-7C>A
c.5596-7C>A (n.5596-7C>A)
c.3169-7C>A (n.3169-7C>A)
c.5629-7C>A (n.5629-7C>A)
n.3279-7C>A
n.650C>A
c.5626-7C>A (n.5626-7C>A)
c.5734-7C>A (n.5734-7C>A)
c.5737-7C>A (n.5737-7C>A)
c.5710-7C>A (n.5710-7C>A)
c.5647-7C>A (n.5647-7C>A)
c.5518-7C>A (n.5518-7C>A)
c.5506-7C>A (n.5506-7C>A)
c.5479-7C>A (n.5479-7C>A)
n.6063-7C>A
c.5833-7C>A (n.5833-7C>A)
c.5827-7C>A (n.5827-7C>A)
c.5824-7C>A (n.5824-7C>A)
c.5719-7C>A (n.5719-7C>A)
c.5716-7C>A (n.5716-7C>A)
n.5848-7C>A
n.5763-7C>A
n.5834-7C>A
 gnomAD v4
11g.77207282C>GCA2615268257MYO7Ac.5743-7C>G (n.5743-7C>G)
c.3570-7C>G
c.5596-7C>G (n.5596-7C>G)
c.3169-7C>G (n.3169-7C>G)
c.5629-7C>G (n.5629-7C>G)
n.3279-7C>G
n.650C>G
c.5626-7C>G (n.5626-7C>G)
c.5734-7C>G (n.5734-7C>G)
c.5737-7C>G (n.5737-7C>G)
c.5710-7C>G (n.5710-7C>G)
c.5647-7C>G (n.5647-7C>G)
c.5518-7C>G (n.5518-7C>G)
c.5506-7C>G (n.5506-7C>G)
c.5479-7C>G (n.5479-7C>G)
n.6063-7C>G
c.5833-7C>G (n.5833-7C>G)
c.5827-7C>G (n.5827-7C>G)
c.5824-7C>G (n.5824-7C>G)
c.5719-7C>G (n.5719-7C>G)
c.5716-7C>G (n.5716-7C>G)
n.5848-7C>G
n.5763-7C>G
n.5834-7C>G
 gnomAD v4
11g.77207283T>CCA2615268261MYO7Ac.5743-6T>C (n.5743-6T>C)
c.3570-6T>C
c.5596-6T>C (n.5596-6T>C)
c.3169-6T>C (n.3169-6T>C)
c.5629-6T>C (n.5629-6T>C)
n.3279-6T>C
n.651T>C
c.5626-6T>C (n.5626-6T>C)
c.5734-6T>C (n.5734-6T>C)
c.5737-6T>C (n.5737-6T>C)
c.5710-6T>C (n.5710-6T>C)
c.5647-6T>C (n.5647-6T>C)
c.5518-6T>C (n.5518-6T>C)
c.5506-6T>C (n.5506-6T>C)
c.5479-6T>C (n.5479-6T>C)
n.6063-6T>C
c.5833-6T>C (n.5833-6T>C)
c.5827-6T>C (n.5827-6T>C)
c.5824-6T>C (n.5824-6T>C)
c.5719-6T>C (n.5719-6T>C)
c.5716-6T>C (n.5716-6T>C)
n.5848-6T>C
n.5763-6T>C
n.5834-6T>C
 gnomAD v4
11g.77207284C>ACA2615268265MYO7Ac.5743-5C>A (n.5743-5C>A)
c.3570-5C>A
c.5596-5C>A (n.5596-5C>A)
c.3169-5C>A (n.3169-5C>A)
c.5629-5C>A (n.5629-5C>A)
n.3279-5C>A
n.652C>A
c.5626-5C>A (n.5626-5C>A)
c.5734-5C>A (n.5734-5C>A)
c.5737-5C>A (n.5737-5C>A)
c.5710-5C>A (n.5710-5C>A)
c.5647-5C>A (n.5647-5C>A)
c.5518-5C>A (n.5518-5C>A)
c.5506-5C>A (n.5506-5C>A)
c.5479-5C>A (n.5479-5C>A)
n.6063-5C>A
c.5833-5C>A (n.5833-5C>A)
c.5827-5C>A (n.5827-5C>A)
c.5824-5C>A (n.5824-5C>A)
c.5719-5C>A (n.5719-5C>A)
c.5716-5C>A (n.5716-5C>A)
n.5848-5C>A
n.5763-5C>A
n.5834-5C>A
 gnomAD v4
11g.77207284C=CA1984127840MYO7Ac.5743-5C= (n.5743-5C=)
c.3570-5C=
c.5596-5C= (n.5596-5C=)
c.3169-5C= (n.3169-5C=)
c.5629-5C= (n.5629-5C=)
n.3279-5C=
n.652C=
c.5626-5C= (n.5626-5C=)
c.5734-5C= (n.5734-5C=)
c.5737-5C= (n.5737-5C=)
c.5710-5C= (n.5710-5C=)
c.5647-5C= (n.5647-5C=)
c.5518-5C= (n.5518-5C=)
c.5506-5C= (n.5506-5C=)
c.5479-5C= (n.5479-5C=)
n.6063-5C=
c.5833-5C= (n.5833-5C=)
c.5827-5C= (n.5827-5C=)
c.5824-5C= (n.5824-5C=)
c.5719-5C= (n.5719-5C=)
c.5716-5C= (n.5716-5C=)
n.5848-5C=
n.5763-5C=
n.5834-5C=
11g.77207284C>GCA600350347MYO7Ac.5743-5C>G (n.5743-5C>G)
c.3570-5C>G
c.5596-5C>G (n.5596-5C>G)
c.3169-5C>G (n.3169-5C>G)
c.5629-5C>G (n.5629-5C>G)
n.3279-5C>G
n.652C>G
c.5626-5C>G (n.5626-5C>G)
c.5734-5C>G (n.5734-5C>G)
c.5737-5C>G (n.5737-5C>G)
c.5710-5C>G (n.5710-5C>G)
c.5647-5C>G (n.5647-5C>G)
c.5518-5C>G (n.5518-5C>G)
c.5506-5C>G (n.5506-5C>G)
c.5479-5C>G (n.5479-5C>G)
n.6063-5C>G
c.5833-5C>G (n.5833-5C>G)
c.5827-5C>G (n.5827-5C>G)
c.5824-5C>G (n.5824-5C>G)
c.5719-5C>G (n.5719-5C>G)
c.5716-5C>G (n.5716-5C>G)
n.5848-5C>G
n.5763-5C>G
n.5834-5C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.77207284C>TCA2573147838MYO7Ac.5743-5C>T (n.5743-5C>T)
c.3570-5C>T
c.5596-5C>T (n.5596-5C>T)
c.3169-5C>T (n.3169-5C>T)
c.5629-5C>T (n.5629-5C>T)
n.3279-5C>T
n.652C>T
c.5626-5C>T (n.5626-5C>T)
c.5734-5C>T (n.5734-5C>T)
c.5737-5C>T (n.5737-5C>T)
c.5710-5C>T (n.5710-5C>T)
c.5647-5C>T (n.5647-5C>T)
c.5518-5C>T (n.5518-5C>T)
c.5506-5C>T (n.5506-5C>T)
c.5479-5C>T (n.5479-5C>T)
n.6063-5C>T
c.5833-5C>T (n.5833-5C>T)
c.5827-5C>T (n.5827-5C>T)
c.5824-5C>T (n.5824-5C>T)
c.5719-5C>T (n.5719-5C>T)
c.5716-5C>T (n.5716-5C>T)
n.5848-5C>T
n.5763-5C>T
n.5834-5C>T
 ClinVar dbSNP
11g.77207286delCA2615268263MYO7Ac.5743-3del (n.5743-3del)
c.3570-3del
c.5596-3del (n.5596-3del)
c.3169-3del (n.3169-3del)
c.5629-3del (n.5629-3del)
n.3279-3del
n.654del
c.5626-3del (n.5626-3del)
c.5734-3del (n.5734-3del)
c.5737-3del (n.5737-3del)
c.5710-3del (n.5710-3del)
c.5647-3del (n.5647-3del)
c.5518-3del (n.5518-3del)
c.5506-3del (n.5506-3del)
c.5479-3del (n.5479-3del)
n.6063-3del
c.5833-3del (n.5833-3del)
c.5827-3del (n.5827-3del)
c.5824-3del (n.5824-3del)
c.5719-3del (n.5719-3del)
c.5716-3del (n.5716-3del)
n.5848-3del
n.5763-3del
n.5834-3del
 gnomAD v4
11g.77207285C>ACA2615268269MYO7Ac.5743-4C>A (n.5743-4C>A)
c.3570-4C>A
c.5596-4C>A (n.5596-4C>A)
c.3169-4C>A (n.3169-4C>A)
c.5629-4C>A (n.5629-4C>A)
n.3279-4C>A
n.653C>A
c.5626-4C>A (n.5626-4C>A)
c.5734-4C>A (n.5734-4C>A)
c.5737-4C>A (n.5737-4C>A)
c.5710-4C>A (n.5710-4C>A)
c.5647-4C>A (n.5647-4C>A)
c.5518-4C>A (n.5518-4C>A)
c.5506-4C>A (n.5506-4C>A)
c.5479-4C>A (n.5479-4C>A)
n.6063-4C>A
c.5833-4C>A (n.5833-4C>A)
c.5827-4C>A (n.5827-4C>A)
c.5824-4C>A (n.5824-4C>A)
c.5719-4C>A (n.5719-4C>A)
c.5716-4C>A (n.5716-4C>A)
n.5848-4C>A
n.5763-4C>A
n.5834-4C>A
 gnomAD v4
11g.77207285C=CA1984127841MYO7Ac.5743-4C= (n.5743-4C=)
c.3570-4C=
c.5596-4C= (n.5596-4C=)
c.3169-4C= (n.3169-4C=)
c.5629-4C= (n.5629-4C=)
n.3279-4C=
n.653C=
c.5626-4C= (n.5626-4C=)
c.5734-4C= (n.5734-4C=)
c.5737-4C= (n.5737-4C=)
c.5710-4C= (n.5710-4C=)
c.5647-4C= (n.5647-4C=)
c.5518-4C= (n.5518-4C=)
c.5506-4C= (n.5506-4C=)
c.5479-4C= (n.5479-4C=)
n.6063-4C=
c.5833-4C= (n.5833-4C=)
c.5827-4C= (n.5827-4C=)
c.5824-4C= (n.5824-4C=)
c.5719-4C= (n.5719-4C=)
c.5716-4C= (n.5716-4C=)
n.5848-4C=
n.5763-4C=
n.5834-4C=
11g.77207285C>GCA939791411MYO7Ac.5743-4C>G (n.5743-4C>G)
c.3570-4C>G
c.5596-4C>G (n.5596-4C>G)
c.3169-4C>G (n.3169-4C>G)
c.5629-4C>G (n.5629-4C>G)
n.3279-4C>G
n.653C>G
c.5626-4C>G (n.5626-4C>G)
c.5734-4C>G (n.5734-4C>G)
c.5737-4C>G (n.5737-4C>G)
c.5710-4C>G (n.5710-4C>G)
c.5647-4C>G (n.5647-4C>G)
c.5518-4C>G (n.5518-4C>G)
c.5506-4C>G (n.5506-4C>G)
c.5479-4C>G (n.5479-4C>G)
n.6063-4C>G
c.5833-4C>G (n.5833-4C>G)
c.5827-4C>G (n.5827-4C>G)
c.5824-4C>G (n.5824-4C>G)
c.5719-4C>G (n.5719-4C>G)
c.5716-4C>G (n.5716-4C>G)
n.5848-4C>G
n.5763-4C>G
n.5834-4C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77207285C>TCA2580084972MYO7Ac.5743-4C>T (n.5743-4C>T)
c.3570-4C>T
c.5596-4C>T (n.5596-4C>T)
c.3169-4C>T (n.3169-4C>T)
c.5629-4C>T (n.5629-4C>T)
n.3279-4C>T
n.653C>T
c.5626-4C>T (n.5626-4C>T)
c.5734-4C>T (n.5734-4C>T)
c.5737-4C>T (n.5737-4C>T)
c.5710-4C>T (n.5710-4C>T)
c.5647-4C>T (n.5647-4C>T)
c.5518-4C>T (n.5518-4C>T)
c.5506-4C>T (n.5506-4C>T)
c.5479-4C>T (n.5479-4C>T)
n.6063-4C>T
c.5833-4C>T (n.5833-4C>T)
c.5827-4C>T (n.5827-4C>T)
c.5824-4C>T (n.5824-4C>T)
c.5719-4C>T (n.5719-4C>T)
c.5716-4C>T (n.5716-4C>T)
n.5848-4C>T
n.5763-4C>T
n.5834-4C>T
 ClinVar
11g.77207286C>ACA2615268274MYO7Ac.5743-3C>A (n.5743-3C>A)
c.3570-3C>A
c.5596-3C>A (n.5596-3C>A)
c.3169-3C>A (n.3169-3C>A)
c.5629-3C>A (n.5629-3C>A)
n.3279-3C>A
n.654C>A
c.5626-3C>A (n.5626-3C>A)
c.5734-3C>A (n.5734-3C>A)
c.5737-3C>A (n.5737-3C>A)
c.5710-3C>A (n.5710-3C>A)
c.5647-3C>A (n.5647-3C>A)
c.5518-3C>A (n.5518-3C>A)
c.5506-3C>A (n.5506-3C>A)
c.5479-3C>A (n.5479-3C>A)
n.6063-3C>A
c.5833-3C>A (n.5833-3C>A)
c.5827-3C>A (n.5827-3C>A)
c.5824-3C>A (n.5824-3C>A)
c.5719-3C>A (n.5719-3C>A)
c.5716-3C>A (n.5716-3C>A)
n.5848-3C>A
n.5763-3C>A
n.5834-3C>A
 gnomAD v4
11g.77207286C>TCA2574931819MYO7Ac.5743-3C>T (n.5743-3C>T)
c.3570-3C>T
c.5596-3C>T (n.5596-3C>T)
c.3169-3C>T (n.3169-3C>T)
c.5629-3C>T (n.5629-3C>T)
n.3279-3C>T
n.654C>T
c.5626-3C>T (n.5626-3C>T)
c.5734-3C>T (n.5734-3C>T)
c.5737-3C>T (n.5737-3C>T)
c.5710-3C>T (n.5710-3C>T)
c.5647-3C>T (n.5647-3C>T)
c.5518-3C>T (n.5518-3C>T)
c.5506-3C>T (n.5506-3C>T)
c.5479-3C>T (n.5479-3C>T)
n.6063-3C>T
c.5833-3C>T (n.5833-3C>T)
c.5827-3C>T (n.5827-3C>T)
c.5824-3C>T (n.5824-3C>T)
c.5719-3C>T (n.5719-3C>T)
c.5716-3C>T (n.5716-3C>T)
n.5848-3C>T
n.5763-3C>T
n.5834-3C>T
 gnomAD v4
11g.77207287A=CA1984127842MYO7Ac.5743-2A= (n.5743-2A=)
c.3570-2A=
c.5596-2A= (n.5596-2A=)
c.3169-2A= (n.3169-2A=)
c.5629-2A= (n.5629-2A=)
n.3279-2A=
n.655A=
c.5626-2A= (n.5626-2A=)
c.5734-2A= (n.5734-2A=)
c.5737-2A= (n.5737-2A=)
c.5710-2A= (n.5710-2A=)
c.5647-2A= (n.5647-2A=)
c.5518-2A= (n.5518-2A=)
c.5506-2A= (n.5506-2A=)
c.5479-2A= (n.5479-2A=)
n.6063-2A=
c.5833-2A= (n.5833-2A=)
c.5827-2A= (n.5827-2A=)
c.5824-2A= (n.5824-2A=)
c.5719-2A= (n.5719-2A=)
c.5716-2A= (n.5716-2A=)
n.5848-2A=
n.5763-2A=
n.5834-2A=
11g.77207287A>CCA381953808MYO7Ac.5743-2A>C (n.5743-2A>C)
c.3570-2A>C
c.5596-2A>C (n.5596-2A>C)
c.3169-2A>C (n.3169-2A>C)
c.5629-2A>C (n.5629-2A>C)
n.3279-2A>C
n.655A>C
c.5626-2A>C (n.5626-2A>C)
c.5734-2A>C (n.5734-2A>C)
c.5737-2A>C (n.5737-2A>C)
c.5710-2A>C (n.5710-2A>C)
c.5647-2A>C (n.5647-2A>C)
c.5518-2A>C (n.5518-2A>C)
c.5506-2A>C (n.5506-2A>C)
c.5479-2A>C (n.5479-2A>C)
n.6063-2A>C
c.5833-2A>C (n.5833-2A>C)
c.5827-2A>C (n.5827-2A>C)
c.5824-2A>C (n.5824-2A>C)
c.5719-2A>C (n.5719-2A>C)
c.5716-2A>C (n.5716-2A>C)
n.5848-2A>C
n.5763-2A>C
n.5834-2A>C
11g.77207287A>GCA6198824MYO7Ac.5743-2A>G (n.5743-2A>G)
c.3570-2A>G
c.5596-2A>G (n.5596-2A>G)
c.3169-2A>G (n.3169-2A>G)
c.5629-2A>G (n.5629-2A>G)
n.3279-2A>G
n.655A>G
c.5626-2A>G (n.5626-2A>G)
c.5734-2A>G (n.5734-2A>G)
c.5737-2A>G (n.5737-2A>G)
c.5710-2A>G (n.5710-2A>G)
c.5647-2A>G (n.5647-2A>G)
c.5518-2A>G (n.5518-2A>G)
c.5506-2A>G (n.5506-2A>G)
c.5479-2A>G (n.5479-2A>G)
n.6063-2A>G
c.5833-2A>G (n.5833-2A>G)
c.5827-2A>G (n.5827-2A>G)
c.5824-2A>G (n.5824-2A>G)
c.5719-2A>G (n.5719-2A>G)
c.5716-2A>G (n.5716-2A>G)
n.5848-2A>G
n.5763-2A>G
n.5834-2A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.77207287A>TCA381953810MYO7Ac.5743-2A>T (n.5743-2A>T)
c.3570-2A>T
c.5596-2A>T (n.5596-2A>T)
c.3169-2A>T (n.3169-2A>T)
c.5629-2A>T (n.5629-2A>T)
n.3279-2A>T
n.655A>T
c.5626-2A>T (n.5626-2A>T)
c.5734-2A>T (n.5734-2A>T)
c.5737-2A>T (n.5737-2A>T)
c.5710-2A>T (n.5710-2A>T)
c.5647-2A>T (n.5647-2A>T)
c.5518-2A>T (n.5518-2A>T)
c.5506-2A>T (n.5506-2A>T)
c.5479-2A>T (n.5479-2A>T)
n.6063-2A>T
c.5833-2A>T (n.5833-2A>T)
c.5827-2A>T (n.5827-2A>T)
c.5824-2A>T (n.5824-2A>T)
c.5719-2A>T (n.5719-2A>T)
c.5716-2A>T (n.5716-2A>T)
n.5848-2A>T
n.5763-2A>T
n.5834-2A>T
11g.77207287_77207298delCA2615268276MYO7Ac.5743-2_5752del
c.3570-2_3579del
c.5596-2_5605del
c.3169-2_3178del
c.5629-2_5638del
n.3279-2_3288del
n.655_666del
c.5626-2_5635del
c.5734-2_5743del
c.5737-2_5746del
c.5710-2_5719del
c.5647-2_5656del
c.5518-2_5527del
c.5506-2_5515del
c.5479-2_5488del
n.6063-2_6072del
c.5833-2_5842del
c.5827-2_5836del
c.5824-2_5833del
c.5719-2_5728del
c.5716-2_5725del
n.5848-2_5857del
n.5763-2_5772del
n.5834-2_5843del
 gnomAD v4
11g.77207288G>ACA381953812MYO7Ac.5743-1G>A (n.5743-1G>A)
c.3570-1G>A
c.5596-1G>A (n.5596-1G>A)
c.3169-1G>A (n.3169-1G>A)
c.5629-1G>A (n.5629-1G>A)
n.3279-1G>A
n.656G>A
c.5626-1G>A (n.5626-1G>A)
c.5734-1G>A (n.5734-1G>A)
c.5737-1G>A (n.5737-1G>A)
c.5710-1G>A (n.5710-1G>A)
c.5647-1G>A (n.5647-1G>A)
c.5518-1G>A (n.5518-1G>A)
c.5506-1G>A (n.5506-1G>A)
c.5479-1G>A (n.5479-1G>A)
n.6063-1G>A
c.5833-1G>A (n.5833-1G>A)
c.5827-1G>A (n.5827-1G>A)
c.5824-1G>A (n.5824-1G>A)
c.5719-1G>A (n.5719-1G>A)
c.5716-1G>A (n.5716-1G>A)
n.5848-1G>A
n.5763-1G>A
n.5834-1G>A
11g.77207288G>CCA381953814MYO7Ac.5743-1G>C (n.5743-1G>C)
c.3570-1G>C
c.5596-1G>C (n.5596-1G>C)
c.3169-1G>C (n.3169-1G>C)
c.5629-1G>C (n.5629-1G>C)
n.3279-1G>C
n.656G>C
c.5626-1G>C (n.5626-1G>C)
c.5734-1G>C (n.5734-1G>C)
c.5737-1G>C (n.5737-1G>C)
c.5710-1G>C (n.5710-1G>C)
c.5647-1G>C (n.5647-1G>C)
c.5518-1G>C (n.5518-1G>C)
c.5506-1G>C (n.5506-1G>C)
c.5479-1G>C (n.5479-1G>C)
n.6063-1G>C
c.5833-1G>C (n.5833-1G>C)
c.5827-1G>C (n.5827-1G>C)
c.5824-1G>C (n.5824-1G>C)
c.5719-1G>C (n.5719-1G>C)
c.5716-1G>C (n.5716-1G>C)
n.5848-1G>C
n.5763-1G>C
n.5834-1G>C
11g.77207288G>TCA381953816MYO7Ac.5743-1G>T (n.5743-1G>T)
c.3570-1G>T
c.5596-1G>T (n.5596-1G>T)
c.3169-1G>T (n.3169-1G>T)
c.5629-1G>T (n.5629-1G>T)
n.3279-1G>T
n.656G>T
c.5626-1G>T (n.5626-1G>T)
c.5734-1G>T (n.5734-1G>T)
c.5737-1G>T (n.5737-1G>T)
c.5710-1G>T (n.5710-1G>T)
c.5647-1G>T (n.5647-1G>T)
c.5518-1G>T (n.5518-1G>T)
c.5506-1G>T (n.5506-1G>T)
c.5479-1G>T (n.5479-1G>T)
n.6063-1G>T
c.5833-1G>T (n.5833-1G>T)
c.5827-1G>T (n.5827-1G>T)
c.5824-1G>T (n.5824-1G>T)
c.5719-1G>T (n.5719-1G>T)
c.5716-1G>T (n.5716-1G>T)
n.5848-1G>T
n.5763-1G>T
n.5834-1G>T
 gnomAD v4
11g.77207289G>ACA224854957MYO7Ac.5743G>A (p.Ala1915Thr)
c.3570G>A
c.5596G>A (p.Ala1866Thr)
c.3169G>A (p.Ala1057Thr)
c.5629G>A (p.Ala1877Thr)
n.3279G>A
n.657G>A
c.5626G>A (p.Ala1876Thr)
c.5734G>A (p.Ala1912Thr)
c.5737G>A (p.Ala1913Thr)
c.5710G>A (p.Ala1904Thr)
c.5647G>A (p.Ala1883Thr)
c.5518G>A (p.Ala1840Thr)
c.5506G>A (p.Ala1836Thr)
c.5479G>A (p.Ala1827Thr)
n.6063G>A
c.5833G>A (p.Ala1945Thr)
c.5827G>A (p.Ala1943Thr)
c.5824G>A (p.Ala1942Thr)
c.5719G>A (p.Ala1907Thr)
c.5716G>A (p.Ala1906Thr)
n.5848G>A
n.5763G>A
n.5834G>A
 dbSNP gnomAD v4
11g.77207289G>CCA381953819MYO7Ac.5743G>C (p.Ala1915Pro)
c.3570G>C
c.5596G>C (p.Ala1866Pro)
c.3169G>C (p.Ala1057Pro)
c.5629G>C (p.Ala1877Pro)
n.3279G>C
n.657G>C
c.5626G>C (p.Ala1876Pro)
c.5734G>C (p.Ala1912Pro)
c.5737G>C (p.Ala1913Pro)
c.5710G>C (p.Ala1904Pro)
c.5647G>C (p.Ala1883Pro)
c.5518G>C (p.Ala1840Pro)
c.5506G>C (p.Ala1836Pro)
c.5479G>C (p.Ala1827Pro)
n.6063G>C
c.5833G>C (p.Ala1945Pro)
c.5827G>C (p.Ala1943Pro)
c.5824G>C (p.Ala1942Pro)
c.5719G>C (p.Ala1907Pro)
c.5716G>C (p.Ala1906Pro)
n.5848G>C
n.5763G>C
n.5834G>C
11g.77207289G=CA1984127843MYO7Ac.5743G= (p.Ala1915=)
c.3570G=
c.5596G= (p.Ala1866=)
c.3169G= (p.Ala1057=)
c.5629G= (p.Ala1877=)
n.3279G=
n.657G=
c.5626G= (p.Ala1876=)
c.5734G= (p.Ala1912=)
c.5737G= (p.Ala1913=)
c.5710G= (p.Ala1904=)
c.5647G= (p.Ala1883=)
c.5518G= (p.Ala1840=)
c.5506G= (p.Ala1836=)
c.5479G= (p.Ala1827=)
n.6063G=
c.5833G= (p.Ala1945=)
c.5827G= (p.Ala1943=)
c.5824G= (p.Ala1942=)
c.5719G= (p.Ala1907=)
c.5716G= (p.Ala1906=)
n.5848G=
n.5763G=
n.5834G=
11g.77207289G>TCA6198825MYO7Ac.5743G>T (p.Ala1915Ser)
c.3570G>T
c.5596G>T (p.Ala1866Ser)
c.3169G>T (p.Ala1057Ser)
c.5629G>T (p.Ala1877Ser)
n.3279G>T
n.657G>T
c.5626G>T (p.Ala1876Ser)
c.5734G>T (p.Ala1912Ser)
c.5737G>T (p.Ala1913Ser)
c.5710G>T (p.Ala1904Ser)
c.5647G>T (p.Ala1883Ser)
c.5518G>T (p.Ala1840Ser)
c.5506G>T (p.Ala1836Ser)
c.5479G>T (p.Ala1827Ser)
n.6063G>T
c.5833G>T (p.Ala1945Ser)
c.5827G>T (p.Ala1943Ser)
c.5824G>T (p.Ala1942Ser)
c.5719G>T (p.Ala1907Ser)
c.5716G>T (p.Ala1906Ser)
n.5848G>T
n.5763G>T
n.5834G>T
 dbSNP ExAC gnomAD v2
11g.77207290C>ACA6198826MYO7Ac.5744C>A (p.Ala1915Asp)
c.3571C>A
c.5597C>A (p.Ala1866Asp)
c.3170C>A (p.Ala1057Asp)
c.5630C>A (p.Ala1877Asp)
n.3280C>A
n.658C>A
c.5627C>A (p.Ala1876Asp)
c.5735C>A (p.Ala1912Asp)
c.5738C>A (p.Ala1913Asp)
c.5711C>A (p.Ala1904Asp)
c.5648C>A (p.Ala1883Asp)
c.5519C>A (p.Ala1840Asp)
c.5507C>A (p.Ala1836Asp)
c.5480C>A (p.Ala1827Asp)
n.6064C>A
c.5834C>A (p.Ala1945Asp)
c.5828C>A (p.Ala1943Asp)
c.5825C>A (p.Ala1942Asp)
c.5720C>A (p.Ala1907Asp)
c.5717C>A (p.Ala1906Asp)
n.5849C>A
n.5764C>A
n.5835C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.77207290C=CA1984127844MYO7Ac.5744C= (p.Ala1915=)
c.3571C=
c.5597C= (p.Ala1866=)
c.3170C= (p.Ala1057=)
c.5630C= (p.Ala1877=)
n.3280C=
n.658C=
c.5627C= (p.Ala1876=)
c.5735C= (p.Ala1912=)
c.5738C= (p.Ala1913=)
c.5711C= (p.Ala1904=)
c.5648C= (p.Ala1883=)
c.5519C= (p.Ala1840=)
c.5507C= (p.Ala1836=)
c.5480C= (p.Ala1827=)
n.6064C=
c.5834C= (p.Ala1945=)
c.5828C= (p.Ala1943=)
c.5825C= (p.Ala1942=)
c.5720C= (p.Ala1907=)
c.5717C= (p.Ala1906=)
n.5849C=
n.5764C=
n.5835C=
11g.77207290C>GCA6198827MYO7Ac.5744C>G (p.Ala1915Gly)
c.3571C>G
c.5597C>G (p.Ala1866Gly)
c.3170C>G (p.Ala1057Gly)
c.5630C>G (p.Ala1877Gly)
n.3280C>G
n.658C>G
c.5627C>G (p.Ala1876Gly)
c.5735C>G (p.Ala1912Gly)
c.5738C>G (p.Ala1913Gly)
c.5711C>G (p.Ala1904Gly)
c.5648C>G (p.Ala1883Gly)
c.5519C>G (p.Ala1840Gly)
c.5507C>G (p.Ala1836Gly)
c.5480C>G (p.Ala1827Gly)
n.6064C>G
c.5834C>G (p.Ala1945Gly)
c.5828C>G (p.Ala1943Gly)
c.5825C>G (p.Ala1942Gly)
c.5720C>G (p.Ala1907Gly)
c.5717C>G (p.Ala1906Gly)
n.5849C>G
n.5764C>G
n.5835C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.77207290C>TCA381953823MYO7Ac.5744C>T (p.Ala1915Val)
c.3571C>T
c.5597C>T (p.Ala1866Val)
c.3170C>T (p.Ala1057Val)
c.5630C>T (p.Ala1877Val)
n.3280C>T
n.658C>T
c.5627C>T (p.Ala1876Val)
c.5735C>T (p.Ala1912Val)
c.5738C>T (p.Ala1913Val)
c.5711C>T (p.Ala1904Val)
c.5648C>T (p.Ala1883Val)
c.5519C>T (p.Ala1840Val)
c.5507C>T (p.Ala1836Val)
c.5480C>T (p.Ala1827Val)
n.6064C>T
c.5834C>T (p.Ala1945Val)
c.5828C>T (p.Ala1943Val)
c.5825C>T (p.Ala1942Val)
c.5720C>T (p.Ala1907Val)
c.5717C>T (p.Ala1906Val)
n.5849C>T
n.5764C>T
n.5835C>T
11g.77207291C>ACA475797284MYO7Ac.5745C>A (p.Ala1915=)
c.3572C>A
c.5598C>A (p.Ala1866=)
c.3171C>A (p.Ala1057=)
c.5631C>A (p.Ala1877=)
n.3281C>A
n.659C>A
c.5628C>A (p.Ala1876=)
c.5736C>A (p.Ala1912=)
c.5739C>A (p.Ala1913=)
c.5712C>A (p.Ala1904=)
c.5649C>A (p.Ala1883=)
c.5520C>A (p.Ala1840=)
c.5508C>A (p.Ala1836=)
c.5481C>A (p.Ala1827=)
n.6065C>A
c.5835C>A (p.Ala1945=)
c.5829C>A (p.Ala1943=)
c.5826C>A (p.Ala1942=)
c.5721C>A (p.Ala1907=)
c.5718C>A (p.Ala1906=)
n.5850C>A
n.5765C>A
n.5836C>A
 gnomAD v4
11g.77207291C>GCA475797285MYO7Ac.5745C>G (p.Ala1915=)
c.3572C>G
c.5598C>G (p.Ala1866=)
c.3171C>G (p.Ala1057=)
c.5631C>G (p.Ala1877=)
n.3281C>G
n.659C>G
c.5628C>G (p.Ala1876=)
c.5736C>G (p.Ala1912=)
c.5739C>G (p.Ala1913=)
c.5712C>G (p.Ala1904=)
c.5649C>G (p.Ala1883=)
c.5520C>G (p.Ala1840=)
c.5508C>G (p.Ala1836=)
c.5481C>G (p.Ala1827=)
n.6065C>G
c.5835C>G (p.Ala1945=)
c.5829C>G (p.Ala1943=)
c.5826C>G (p.Ala1942=)
c.5721C>G (p.Ala1907=)
c.5718C>G (p.Ala1906=)
n.5850C>G
n.5765C>G
n.5836C>G
11g.77207291C>TCA475797286MYO7Ac.5745C>T (p.Ala1915=)
c.3572C>T
c.5598C>T (p.Ala1866=)
c.3171C>T (p.Ala1057=)
c.5631C>T (p.Ala1877=)
n.3281C>T
n.659C>T
c.5628C>T (p.Ala1876=)
c.5736C>T (p.Ala1912=)
c.5739C>T (p.Ala1913=)
c.5712C>T (p.Ala1904=)
c.5649C>T (p.Ala1883=)
c.5520C>T (p.Ala1840=)
c.5508C>T (p.Ala1836=)
c.5481C>T (p.Ala1827=)
n.6065C>T
c.5835C>T (p.Ala1945=)
c.5829C>T (p.Ala1943=)
c.5826C>T (p.Ala1942=)
c.5721C>T (p.Ala1907=)
c.5718C>T (p.Ala1906=)
n.5850C>T
n.5765C>T
n.5836C>T
 ClinVar dbSNP gnomAD v4
11g.77207292T>ACA381953827MYO7Ac.5746T>A (p.Phe1916Ile)
c.3573T>A
c.5599T>A (p.Phe1867Ile)
c.3172T>A (p.Phe1058Ile)
c.5632T>A (p.Phe1878Ile)
n.3282T>A
n.660T>A
c.5629T>A (p.Phe1877Ile)
c.5737T>A (p.Phe1913Ile)
c.5740T>A (p.Phe1914Ile)
c.5713T>A (p.Phe1905Ile)
c.5650T>A (p.Phe1884Ile)
c.5521T>A (p.Phe1841Ile)
c.5509T>A (p.Phe1837Ile)
c.5482T>A (p.Phe1828Ile)
n.6066T>A
c.5836T>A (p.Phe1946Ile)
c.5830T>A (p.Phe1944Ile)
c.5827T>A (p.Phe1943Ile)
c.5722T>A (p.Phe1908Ile)
c.5719T>A (p.Phe1907Ile)
n.5851T>A
n.5766T>A
n.5837T>A
11g.77207292T>CCA381953829MYO7Ac.5746T>C (p.Phe1916Leu)
c.3573T>C
c.5599T>C (p.Phe1867Leu)
c.3172T>C (p.Phe1058Leu)
c.5632T>C (p.Phe1878Leu)
n.3282T>C
n.660T>C
c.5629T>C (p.Phe1877Leu)
c.5737T>C (p.Phe1913Leu)
c.5740T>C (p.Phe1914Leu)
c.5713T>C (p.Phe1905Leu)
c.5650T>C (p.Phe1884Leu)
c.5521T>C (p.Phe1841Leu)
c.5509T>C (p.Phe1837Leu)
c.5482T>C (p.Phe1828Leu)
n.6066T>C
c.5836T>C (p.Phe1946Leu)
c.5830T>C (p.Phe1944Leu)
c.5827T>C (p.Phe1943Leu)
c.5722T>C (p.Phe1908Leu)
c.5719T>C (p.Phe1907Leu)
n.5851T>C
n.5766T>C
n.5837T>C
11g.77207292T>GCA381953831MYO7Ac.5746T>G (p.Phe1916Val)
c.3573T>G
c.5599T>G (p.Phe1867Val)
c.3172T>G (p.Phe1058Val)
c.5632T>G (p.Phe1878Val)
n.3282T>G
n.660T>G
c.5629T>G (p.Phe1877Val)
c.5737T>G (p.Phe1913Val)
c.5740T>G (p.Phe1914Val)
c.5713T>G (p.Phe1905Val)
c.5650T>G (p.Phe1884Val)
c.5521T>G (p.Phe1841Val)
c.5509T>G (p.Phe1837Val)
c.5482T>G (p.Phe1828Val)
n.6066T>G
c.5836T>G (p.Phe1946Val)
c.5830T>G (p.Phe1944Val)
c.5827T>G (p.Phe1943Val)
c.5722T>G (p.Phe1908Val)
c.5719T>G (p.Phe1907Val)
n.5851T>G
n.5766T>G
n.5837T>G
 dbSNP gnomAD v2 gnomAD v4
11g.77207292T=CA1984127845MYO7Ac.5746T= (p.Phe1916=)
c.3573T=
c.5599T= (p.Phe1867=)
c.3172T= (p.Phe1058=)
c.5632T= (p.Phe1878=)
n.3282T=
n.660T=
c.5629T= (p.Phe1877=)
c.5737T= (p.Phe1913=)
c.5740T= (p.Phe1914=)
c.5713T= (p.Phe1905=)
c.5650T= (p.Phe1884=)
c.5521T= (p.Phe1841=)
c.5509T= (p.Phe1837=)
c.5482T= (p.Phe1828=)
n.6066T=
c.5836T= (p.Phe1946=)
c.5830T= (p.Phe1944=)
c.5827T= (p.Phe1943=)
c.5722T= (p.Phe1908=)
c.5719T= (p.Phe1907=)
n.5851T=
n.5766T=
n.5837T=
11g.77207293delCA2695215059MYO7Ac.5747del (p.Phe1916SerfsTer?)
c.3574del
c.5600del (p.Phe1867SerfsTer?)
c.3173del (p.Phe1058SerfsTer?)
c.5633del (p.Phe1878SerfsTer?)
n.3283del
n.661del
c.5630del (p.Phe1877SerfsTer?)
c.5738del (p.Phe1913SerfsTer?)
c.5741del (p.Phe1914SerfsTer?)
c.5714del (p.Phe1905SerfsTer?)
c.5651del (p.Phe1884SerfsTer?)
c.5522del (p.Phe1841SerfsTer?)
c.5510del (p.Phe1837SerfsTer?)
c.5483del (p.Phe1828SerfsTer?)
n.6067del
c.5837del (p.Phe1946SerfsTer?)
c.5831del (p.Phe1944SerfsTer?)
c.5828del (p.Phe1943SerfsTer?)
c.5723del (p.Phe1908SerfsTer?)
c.5720del (p.Phe1907SerfsTer?)
n.5852del
n.5767del
n.5838del
11g.77207293T>ACA381953833MYO7Ac.5747T>A (p.Phe1916Tyr)
c.3574T>A
c.5600T>A (p.Phe1867Tyr)
c.3173T>A (p.Phe1058Tyr)
c.5633T>A (p.Phe1878Tyr)
n.3283T>A
n.661T>A
c.5630T>A (p.Phe1877Tyr)
c.5738T>A (p.Phe1913Tyr)
c.5741T>A (p.Phe1914Tyr)
c.5714T>A (p.Phe1905Tyr)
c.5651T>A (p.Phe1884Tyr)
c.5522T>A (p.Phe1841Tyr)
c.5510T>A (p.Phe1837Tyr)
c.5483T>A (p.Phe1828Tyr)
n.6067T>A
c.5837T>A (p.Phe1946Tyr)
c.5831T>A (p.Phe1944Tyr)
c.5828T>A (p.Phe1943Tyr)
c.5723T>A (p.Phe1908Tyr)
c.5720T>A (p.Phe1907Tyr)
n.5852T>A
n.5767T>A
n.5838T>A
11g.77207293T>CCA381953835MYO7Ac.5747T>C (p.Phe1916Ser)
c.3574T>C
c.5600T>C (p.Phe1867Ser)
c.3173T>C (p.Phe1058Ser)
c.5633T>C (p.Phe1878Ser)
n.3283T>C
n.661T>C
c.5630T>C (p.Phe1877Ser)
c.5738T>C (p.Phe1913Ser)
c.5741T>C (p.Phe1914Ser)
c.5714T>C (p.Phe1905Ser)
c.5651T>C (p.Phe1884Ser)
c.5522T>C (p.Phe1841Ser)
c.5510T>C (p.Phe1837Ser)
c.5483T>C (p.Phe1828Ser)
n.6067T>C
c.5837T>C (p.Phe1946Ser)
c.5831T>C (p.Phe1944Ser)
c.5828T>C (p.Phe1943Ser)
c.5723T>C (p.Phe1908Ser)
c.5720T>C (p.Phe1907Ser)
n.5852T>C
n.5767T>C
n.5838T>C
11g.77207293T>GCA381953837MYO7Ac.5747T>G (p.Phe1916Cys)
c.3574T>G
c.5600T>G (p.Phe1867Cys)
c.3173T>G (p.Phe1058Cys)
c.5633T>G (p.Phe1878Cys)
n.3283T>G
n.661T>G
c.5630T>G (p.Phe1877Cys)
c.5738T>G (p.Phe1913Cys)
c.5741T>G (p.Phe1914Cys)
c.5714T>G (p.Phe1905Cys)
c.5651T>G (p.Phe1884Cys)
c.5522T>G (p.Phe1841Cys)
c.5510T>G (p.Phe1837Cys)
c.5483T>G (p.Phe1828Cys)
n.6067T>G
c.5837T>G (p.Phe1946Cys)
c.5831T>G (p.Phe1944Cys)
c.5828T>G (p.Phe1943Cys)
c.5723T>G (p.Phe1908Cys)
c.5720T>G (p.Phe1907Cys)
n.5852T>G
n.5767T>G
n.5838T>G
11g.77207294C>ACA381953838MYO7Ac.5748C>A (p.Phe1916Leu)
c.3575C>A
c.5601C>A (p.Phe1867Leu)
c.3174C>A (p.Phe1058Leu)
c.5634C>A (p.Phe1878Leu)
n.3284C>A
n.662C>A
c.5631C>A (p.Phe1877Leu)
c.5739C>A (p.Phe1913Leu)
c.5742C>A (p.Phe1914Leu)
c.5715C>A (p.Phe1905Leu)
c.5652C>A (p.Phe1884Leu)
c.5523C>A (p.Phe1841Leu)
c.5511C>A (p.Phe1837Leu)
c.5484C>A (p.Phe1828Leu)
n.6068C>A
c.5838C>A (p.Phe1946Leu)
c.5832C>A (p.Phe1944Leu)
c.5829C>A (p.Phe1943Leu)
c.5724C>A (p.Phe1908Leu)
c.5721C>A (p.Phe1907Leu)
n.5853C>A
n.5768C>A
n.5839C>A
 gnomAD v4
11g.77207294C=CA1984127846MYO7Ac.5748C= (p.Phe1916=)
c.3575C=
c.5601C= (p.Phe1867=)
c.3174C= (p.Phe1058=)
c.5634C= (p.Phe1878=)
n.3284C=
n.662C=
c.5631C= (p.Phe1877=)
c.5739C= (p.Phe1913=)
c.5742C= (p.Phe1914=)
c.5715C= (p.Phe1905=)
c.5652C= (p.Phe1884=)
c.5523C= (p.Phe1841=)
c.5511C= (p.Phe1837=)
c.5484C= (p.Phe1828=)
n.6068C=
c.5838C= (p.Phe1946=)
c.5832C= (p.Phe1944=)
c.5829C= (p.Phe1943=)
c.5724C= (p.Phe1908=)
c.5721C= (p.Phe1907=)
n.5853C=
n.5768C=
n.5839C=
11g.77207294C>GCA381953840MYO7Ac.5748C>G (p.Phe1916Leu)
c.3575C>G
c.5601C>G (p.Phe1867Leu)
c.3174C>G (p.Phe1058Leu)
c.5634C>G (p.Phe1878Leu)
n.3284C>G
n.662C>G
c.5631C>G (p.Phe1877Leu)
c.5739C>G (p.Phe1913Leu)
c.5742C>G (p.Phe1914Leu)
c.5715C>G (p.Phe1905Leu)
c.5652C>G (p.Phe1884Leu)
c.5523C>G (p.Phe1841Leu)
c.5511C>G (p.Phe1837Leu)
c.5484C>G (p.Phe1828Leu)
n.6068C>G
c.5838C>G (p.Phe1946Leu)
c.5832C>G (p.Phe1944Leu)
c.5829C>G (p.Phe1943Leu)
c.5724C>G (p.Phe1908Leu)
c.5721C>G (p.Phe1907Leu)
n.5853C>G
n.5768C>G
n.5839C>G
11g.77207294C>TCA6198828MYO7Ac.5748C>T (p.Phe1916=)
c.3575C>T
c.5601C>T (p.Phe1867=)
c.3174C>T (p.Phe1058=)
c.5634C>T (p.Phe1878=)
n.3284C>T
n.662C>T
c.5631C>T (p.Phe1877=)
c.5739C>T (p.Phe1913=)
c.5742C>T (p.Phe1914=)
c.5715C>T (p.Phe1905=)
c.5652C>T (p.Phe1884=)
c.5523C>T (p.Phe1841=)
c.5511C>T (p.Phe1837=)
c.5484C>T (p.Phe1828=)
n.6068C>T
c.5838C>T (p.Phe1946=)
c.5832C>T (p.Phe1944=)
c.5829C>T (p.Phe1943=)
c.5724C>T (p.Phe1908=)
c.5721C>T (p.Phe1907=)
n.5853C>T
n.5768C>T
n.5839C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.77207295G>ACA6198829MYO7Ac.5749G>A (p.Glu1917Lys)
c.3576G>A
c.5602G>A (p.Glu1868Lys)
c.3175G>A (p.Glu1059Lys)
c.5635G>A (p.Glu1879Lys)
n.3285G>A
n.663G>A
c.5632G>A (p.Glu1878Lys)
c.5740G>A (p.Glu1914Lys)
c.5743G>A (p.Glu1915Lys)
c.5716G>A (p.Glu1906Lys)
c.5653G>A (p.Glu1885Lys)
c.5524G>A (p.Glu1842Lys)
c.5512G>A (p.Glu1838Lys)
c.5485G>A (p.Glu1829Lys)
n.6069G>A
c.5839G>A (p.Glu1947Lys)
c.5833G>A (p.Glu1945Lys)
c.5830G>A (p.Glu1944Lys)
c.5725G>A (p.Glu1909Lys)
c.5722G>A (p.Glu1908Lys)
n.5854G>A
n.5769G>A
n.5840G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.77207295G>CCA381953844MYO7Ac.5749G>C (p.Glu1917Gln)
c.3576G>C
c.5602G>C (p.Glu1868Gln)
c.3175G>C (p.Glu1059Gln)
c.5635G>C (p.Glu1879Gln)
n.3285G>C
n.663G>C
c.5632G>C (p.Glu1878Gln)
c.5740G>C (p.Glu1914Gln)
c.5743G>C (p.Glu1915Gln)
c.5716G>C (p.Glu1906Gln)
c.5653G>C (p.Glu1885Gln)
c.5524G>C (p.Glu1842Gln)
c.5512G>C (p.Glu1838Gln)
c.5485G>C (p.Glu1829Gln)
n.6069G>C
c.5839G>C (p.Glu1947Gln)
c.5833G>C (p.Glu1945Gln)
c.5830G>C (p.Glu1944Gln)
c.5725G>C (p.Glu1909Gln)
c.5722G>C (p.Glu1908Gln)
n.5854G>C
n.5769G>C
n.5840G>C
11g.77207295G=CA1984127847MYO7Ac.5749G= (p.Glu1917=)
c.3576G=
c.5602G= (p.Glu1868=)
c.3175G= (p.Glu1059=)
c.5635G= (p.Glu1879=)
n.3285G=
n.663G=
c.5632G= (p.Glu1878=)
c.5740G= (p.Glu1914=)
c.5743G= (p.Glu1915=)
c.5716G= (p.Glu1906=)
c.5653G= (p.Glu1885=)
c.5524G= (p.Glu1842=)
c.5512G= (p.Glu1838=)
c.5485G= (p.Glu1829=)
n.6069G=
c.5839G= (p.Glu1947=)
c.5833G= (p.Glu1945=)
c.5830G= (p.Glu1944=)
c.5725G= (p.Glu1909=)
c.5722G= (p.Glu1908=)
n.5854G=
n.5769G=
n.5840G=
11g.77207295G>TCA224854968MYO7Ac.5749G>T (p.Glu1917Ter)
c.3576G>T
c.5602G>T (p.Glu1868Ter)
c.3175G>T (p.Glu1059Ter)
c.5635G>T (p.Glu1879Ter)
n.3285G>T
n.663G>T
c.5632G>T (p.Glu1878Ter)
c.5740G>T (p.Glu1914Ter)
c.5743G>T (p.Glu1915Ter)
c.5716G>T (p.Glu1906Ter)
c.5653G>T (p.Glu1885Ter)
c.5524G>T (p.Glu1842Ter)
c.5512G>T (p.Glu1838Ter)
c.5485G>T (p.Glu1829Ter)
n.6069G>T
c.5839G>T (p.Glu1947Ter)
c.5833G>T (p.Glu1945Ter)
c.5830G>T (p.Glu1944Ter)
c.5725G>T (p.Glu1909Ter)
c.5722G>T (p.Glu1908Ter)
n.5854G>T
n.5769G>T
n.5840G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.77207296A>CCA381953849MYO7Ac.5750A>C (p.Glu1917Ala)
c.3577A>C
c.5603A>C (p.Glu1868Ala)
c.3176A>C (p.Glu1059Ala)
c.5636A>C (p.Glu1879Ala)
n.3286A>C
n.664A>C
c.5633A>C (p.Glu1878Ala)
c.5741A>C (p.Glu1914Ala)
c.5744A>C (p.Glu1915Ala)
c.5717A>C (p.Glu1906Ala)
c.5654A>C (p.Glu1885Ala)
c.5525A>C (p.Glu1842Ala)
c.5513A>C (p.Glu1838Ala)
c.5486A>C (p.Glu1829Ala)
n.6070A>C
c.5840A>C (p.Glu1947Ala)
c.5834A>C (p.Glu1945Ala)
c.5831A>C (p.Glu1944Ala)
c.5726A>C (p.Glu1909Ala)
c.5723A>C (p.Glu1908Ala)
n.5855A>C
n.5770A>C
n.5841A>C
11g.77207296A>GCA381953850MYO7Ac.5750A>G (p.Glu1917Gly)
c.3577A>G
c.5603A>G (p.Glu1868Gly)
c.3176A>G (p.Glu1059Gly)
c.5636A>G (p.Glu1879Gly)
n.3286A>G
n.664A>G
c.5633A>G (p.Glu1878Gly)
c.5741A>G (p.Glu1914Gly)
c.5744A>G (p.Glu1915Gly)
c.5717A>G (p.Glu1906Gly)
c.5654A>G (p.Glu1885Gly)
c.5525A>G (p.Glu1842Gly)
c.5513A>G (p.Glu1838Gly)
c.5486A>G (p.Glu1829Gly)
n.6070A>G
c.5840A>G (p.Glu1947Gly)
c.5834A>G (p.Glu1945Gly)
c.5831A>G (p.Glu1944Gly)
c.5726A>G (p.Glu1909Gly)
c.5723A>G (p.Glu1908Gly)
n.5855A>G
n.5770A>G
n.5841A>G
11g.77207296A>TCA381953847MYO7Ac.5750A>T (p.Glu1917Val)
c.3577A>T
c.5603A>T (p.Glu1868Val)
c.3176A>T (p.Glu1059Val)
c.5636A>T (p.Glu1879Val)
n.3286A>T
n.664A>T
c.5633A>T (p.Glu1878Val)
c.5741A>T (p.Glu1914Val)
c.5744A>T (p.Glu1915Val)
c.5717A>T (p.Glu1906Val)
c.5654A>T (p.Glu1885Val)
c.5525A>T (p.Glu1842Val)
c.5513A>T (p.Glu1838Val)
c.5486A>T (p.Glu1829Val)
n.6070A>T
c.5840A>T (p.Glu1947Val)
c.5834A>T (p.Glu1945Val)
c.5831A>T (p.Glu1944Val)
c.5726A>T (p.Glu1909Val)
c.5723A>T (p.Glu1908Val)
n.5855A>T
n.5770A>T
n.5841A>T
 gnomAD v4
11g.77207297A>CCA381953852MYO7Ac.5751A>C (p.Glu1917Asp)
c.3578A>C
c.5604A>C (p.Glu1868Asp)
c.3177A>C (p.Glu1059Asp)
c.5637A>C (p.Glu1879Asp)
n.3287A>C
n.665A>C
c.5634A>C (p.Glu1878Asp)
c.5742A>C (p.Glu1914Asp)
c.5745A>C (p.Glu1915Asp)
c.5718A>C (p.Glu1906Asp)
c.5655A>C (p.Glu1885Asp)
c.5526A>C (p.Glu1842Asp)
c.5514A>C (p.Glu1838Asp)
c.5487A>C (p.Glu1829Asp)
n.6071A>C
c.5841A>C (p.Glu1947Asp)
c.5835A>C (p.Glu1945Asp)
c.5832A>C (p.Glu1944Asp)
c.5727A>C (p.Glu1909Asp)
c.5724A>C (p.Glu1908Asp)
n.5856A>C
n.5771A>C
n.5842A>C
11g.77207297A>GCA475797287MYO7Ac.5751A>G (p.Glu1917=)
c.3578A>G
c.5604A>G (p.Glu1868=)
c.3177A>G (p.Glu1059=)
c.5637A>G (p.Glu1879=)
n.3287A>G
n.665A>G
c.5634A>G (p.Glu1878=)
c.5742A>G (p.Glu1914=)
c.5745A>G (p.Glu1915=)
c.5718A>G (p.Glu1906=)
c.5655A>G (p.Glu1885=)
c.5526A>G (p.Glu1842=)
c.5514A>G (p.Glu1838=)
c.5487A>G (p.Glu1829=)
n.6071A>G
c.5841A>G (p.Glu1947=)
c.5835A>G (p.Glu1945=)
c.5832A>G (p.Glu1944=)
c.5727A>G (p.Glu1909=)
c.5724A>G (p.Glu1908=)
n.5856A>G
n.5771A>G
n.5842A>G
11g.77207297A>TCA381953853MYO7Ac.5751A>T (p.Glu1917Asp)
c.3578A>T
c.5604A>T (p.Glu1868Asp)
c.3177A>T (p.Glu1059Asp)
c.5637A>T (p.Glu1879Asp)
n.3287A>T
n.665A>T
c.5634A>T (p.Glu1878Asp)
c.5742A>T (p.Glu1914Asp)
c.5745A>T (p.Glu1915Asp)
c.5718A>T (p.Glu1906Asp)
c.5655A>T (p.Glu1885Asp)
c.5526A>T (p.Glu1842Asp)
c.5514A>T (p.Glu1838Asp)
c.5487A>T (p.Glu1829Asp)
n.6071A>T
c.5841A>T (p.Glu1947Asp)
c.5835A>T (p.Glu1945Asp)
c.5832A>T (p.Glu1944Asp)
c.5727A>T (p.Glu1909Asp)
c.5724A>T (p.Glu1908Asp)
n.5856A>T
n.5771A>T
n.5842A>T
11g.77207298G>ACA224854971MYO7Ac.5752G>A (p.Val1918Met)
c.3579G>A
c.5605G>A (p.Val1869Met)
c.3178G>A (p.Val1060Met)
c.5638G>A (p.Val1880Met)
n.3288G>A
n.666G>A
c.5635G>A (p.Val1879Met)
c.5743G>A (p.Val1915Met)
c.5746G>A (p.Val1916Met)
c.5719G>A (p.Val1907Met)
c.5656G>A (p.Val1886Met)
c.5527G>A (p.Val1843Met)
c.5515G>A (p.Val1839Met)
c.5488G>A (p.Val1830Met)
n.6072G>A
c.5842G>A (p.Val1948Met)
c.5836G>A (p.Val1946Met)
c.5833G>A (p.Val1945Met)
c.5728G>A (p.Val1910Met)
c.5725G>A (p.Val1909Met)
n.5857G>A
n.5772G>A
n.5843G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77207298G>CCA224854972MYO7Ac.5752G>C (p.Val1918Leu)
c.3579G>C
c.5605G>C (p.Val1869Leu)
c.3178G>C (p.Val1060Leu)
c.5638G>C (p.Val1880Leu)
n.3288G>C
n.666G>C
c.5635G>C (p.Val1879Leu)
c.5743G>C (p.Val1915Leu)
c.5746G>C (p.Val1916Leu)
c.5719G>C (p.Val1907Leu)
c.5656G>C (p.Val1886Leu)
c.5527G>C (p.Val1843Leu)
c.5515G>C (p.Val1839Leu)
c.5488G>C (p.Val1830Leu)
n.6072G>C
c.5842G>C (p.Val1948Leu)
c.5836G>C (p.Val1946Leu)
c.5833G>C (p.Val1945Leu)
c.5728G>C (p.Val1910Leu)
c.5725G>C (p.Val1909Leu)
n.5857G>C
n.5772G>C
n.5843G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77207298G=CA1984127848MYO7Ac.5752G= (p.Val1918=)
c.3579G=
c.5605G= (p.Val1869=)
c.3178G= (p.Val1060=)
c.5638G= (p.Val1880=)
n.3288G=
n.666G=
c.5635G= (p.Val1879=)
c.5743G= (p.Val1915=)
c.5746G= (p.Val1916=)
c.5719G= (p.Val1907=)
c.5656G= (p.Val1886=)
c.5527G= (p.Val1843=)
c.5515G= (p.Val1839=)
c.5488G= (p.Val1830=)
n.6072G=
c.5842G= (p.Val1948=)
c.5836G= (p.Val1946=)
c.5833G= (p.Val1945=)
c.5728G= (p.Val1910=)
c.5725G= (p.Val1909=)
n.5857G=
n.5772G=
n.5843G=
11g.77207298G>TCA381953857MYO7Ac.5752G>T (p.Val1918Leu)
c.3579G>T
c.5605G>T (p.Val1869Leu)
c.3178G>T (p.Val1060Leu)
c.5638G>T (p.Val1880Leu)
n.3288G>T
n.666G>T
c.5635G>T (p.Val1879Leu)
c.5743G>T (p.Val1915Leu)
c.5746G>T (p.Val1916Leu)
c.5719G>T (p.Val1907Leu)
c.5656G>T (p.Val1886Leu)
c.5527G>T (p.Val1843Leu)
c.5515G>T (p.Val1839Leu)
c.5488G>T (p.Val1830Leu)
n.6072G>T
c.5842G>T (p.Val1948Leu)
c.5836G>T (p.Val1946Leu)
c.5833G>T (p.Val1945Leu)
c.5728G>T (p.Val1910Leu)
c.5725G>T (p.Val1909Leu)
n.5857G>T
n.5772G>T
n.5843G>T
 COSMIC
11g.77207299T>ACA381953863MYO7Ac.5753T>A (p.Val1918Glu)
c.3580T>A
c.5606T>A (p.Val1869Glu)
c.3179T>A (p.Val1060Glu)
c.5639T>A (p.Val1880Glu)
n.3289T>A
n.667T>A
c.5636T>A (p.Val1879Glu)
c.5744T>A (p.Val1915Glu)
c.5747T>A (p.Val1916Glu)
c.5720T>A (p.Val1907Glu)
c.5657T>A (p.Val1886Glu)
c.5528T>A (p.Val1843Glu)
c.5516T>A (p.Val1839Glu)
c.5489T>A (p.Val1830Glu)
n.6073T>A
c.5843T>A (p.Val1948Glu)
c.5837T>A (p.Val1946Glu)
c.5834T>A (p.Val1945Glu)
c.5729T>A (p.Val1910Glu)
c.5726T>A (p.Val1909Glu)
n.5858T>A
n.5773T>A
n.5844T>A
 ClinVar dbSNP
11g.77207299T>CCA381953860MYO7Ac.5753T>C (p.Val1918Ala)
c.3580T>C
c.5606T>C (p.Val1869Ala)
c.3179T>C (p.Val1060Ala)
c.5639T>C (p.Val1880Ala)
n.3289T>C
n.667T>C
c.5636T>C (p.Val1879Ala)
c.5744T>C (p.Val1915Ala)
c.5747T>C (p.Val1916Ala)
c.5720T>C (p.Val1907Ala)
c.5657T>C (p.Val1886Ala)
c.5528T>C (p.Val1843Ala)
c.5516T>C (p.Val1839Ala)
c.5489T>C (p.Val1830Ala)
n.6073T>C
c.5843T>C (p.Val1948Ala)
c.5837T>C (p.Val1946Ala)
c.5834T>C (p.Val1945Ala)
c.5729T>C (p.Val1910Ala)
c.5726T>C (p.Val1909Ala)
n.5858T>C
n.5773T>C
n.5844T>C
 gnomAD v4
11g.77207299T>GCA381953861MYO7Ac.5753T>G (p.Val1918Gly)
c.3580T>G
c.5606T>G (p.Val1869Gly)
c.3179T>G (p.Val1060Gly)
c.5639T>G (p.Val1880Gly)
n.3289T>G
n.667T>G
c.5636T>G (p.Val1879Gly)
c.5744T>G (p.Val1915Gly)
c.5747T>G (p.Val1916Gly)
c.5720T>G (p.Val1907Gly)
c.5657T>G (p.Val1886Gly)
c.5528T>G (p.Val1843Gly)
c.5516T>G (p.Val1839Gly)
c.5489T>G (p.Val1830Gly)
n.6073T>G
c.5843T>G (p.Val1948Gly)
c.5837T>G (p.Val1946Gly)
c.5834T>G (p.Val1945Gly)
c.5729T>G (p.Val1910Gly)
c.5726T>G (p.Val1909Gly)
n.5858T>G
n.5773T>G
n.5844T>G
11g.77207299T=CA1984127849MYO7Ac.5753T= (p.Val1918=)
c.3580T=
c.5606T= (p.Val1869=)
c.3179T= (p.Val1060=)
c.5639T= (p.Val1880=)
n.3289T=
n.667T=
c.5636T= (p.Val1879=)
c.5744T= (p.Val1915=)
c.5747T= (p.Val1916=)
c.5720T= (p.Val1907=)
c.5657T= (p.Val1886=)
c.5528T= (p.Val1843=)
c.5516T= (p.Val1839=)
c.5489T= (p.Val1830=)
n.6073T=
c.5843T= (p.Val1948=)
c.5837T= (p.Val1946=)
c.5834T= (p.Val1945=)
c.5729T= (p.Val1910=)
c.5726T= (p.Val1909=)
n.5858T=
n.5773T=
n.5844T=
11g.77207300G>ACA475797290MYO7Ac.5754G>A (p.Val1918=)
c.3581G>A
c.5607G>A (p.Val1869=)
c.3180G>A (p.Val1060=)
c.5640G>A (p.Val1880=)
n.3290G>A
n.668G>A
c.5637G>A (p.Val1879=)
c.5745G>A (p.Val1915=)
c.5748G>A (p.Val1916=)
c.5721G>A (p.Val1907=)
c.5658G>A (p.Val1886=)
c.5529G>A (p.Val1843=)
c.5517G>A (p.Val1839=)
c.5490G>A (p.Val1830=)
n.6074G>A
c.5844G>A (p.Val1948=)
c.5838G>A (p.Val1946=)
c.5835G>A (p.Val1945=)
c.5730G>A (p.Val1910=)
c.5727G>A (p.Val1909=)
n.5859G>A
n.5774G>A
n.5845G>A
 ClinVar gnomAD v4
11g.77207300G>CCA475797289MYO7Ac.5754G>C (p.Val1918=)
c.3581G>C
c.5607G>C (p.Val1869=)
c.3180G>C (p.Val1060=)
c.5640G>C (p.Val1880=)
n.3290G>C
n.668G>C
c.5637G>C (p.Val1879=)
c.5745G>C (p.Val1915=)
c.5748G>C (p.Val1916=)
c.5721G>C (p.Val1907=)
c.5658G>C (p.Val1886=)
c.5529G>C (p.Val1843=)
c.5517G>C (p.Val1839=)
c.5490G>C (p.Val1830=)
n.6074G>C
c.5844G>C (p.Val1948=)
c.5838G>C (p.Val1946=)
c.5835G>C (p.Val1945=)
c.5730G>C (p.Val1910=)
c.5727G>C (p.Val1909=)
n.5859G>C
n.5774G>C
n.5845G>C
11g.77207300G>TCA475797288MYO7Ac.5754G>T (p.Val1918=)
c.3581G>T
c.5607G>T (p.Val1869=)
c.3180G>T (p.Val1060=)
c.5640G>T (p.Val1880=)
n.3290G>T
n.668G>T
c.5637G>T (p.Val1879=)
c.5745G>T (p.Val1915=)
c.5748G>T (p.Val1916=)
c.5721G>T (p.Val1907=)
c.5658G>T (p.Val1886=)
c.5529G>T (p.Val1843=)
c.5517G>T (p.Val1839=)
c.5490G>T (p.Val1830=)
n.6074G>T
c.5844G>T (p.Val1948=)
c.5838G>T (p.Val1946=)
c.5835G>T (p.Val1945=)
c.5730G>T (p.Val1910=)
c.5727G>T (p.Val1909=)
n.5859G>T
n.5774G>T
n.5845G>T
11g.77207301G>ACA381953866MYO7Ac.5755G>A (p.Glu1919Lys)
c.3582G>A
c.5608G>A (p.Glu1870Lys)
c.3181G>A (p.Glu1061Lys)
c.5641G>A (p.Glu1881Lys)
n.3291G>A
n.669G>A
c.5638G>A (p.Glu1880Lys)
c.5746G>A (p.Glu1916Lys)
c.5749G>A (p.Glu1917Lys)
c.5722G>A (p.Glu1908Lys)
c.5659G>A (p.Glu1887Lys)
c.5530G>A (p.Glu1844Lys)
c.5518G>A (p.Glu1840Lys)
c.5491G>A (p.Glu1831Lys)
n.6075G>A
c.5845G>A (p.Glu1949Lys)
c.5839G>A (p.Glu1947Lys)
c.5836G>A (p.Glu1946Lys)
c.5731G>A (p.Glu1911Lys)
c.5728G>A (p.Glu1910Lys)
n.5860G>A
n.5775G>A
n.5846G>A
 COSMIC
11g.77207301G>CCA381953867MYO7Ac.5755G>C (p.Glu1919Gln)
c.3582G>C
c.5608G>C (p.Glu1870Gln)
c.3181G>C (p.Glu1061Gln)
c.5641G>C (p.Glu1881Gln)
n.3291G>C
n.669G>C
c.5638G>C (p.Glu1880Gln)
c.5746G>C (p.Glu1916Gln)
c.5749G>C (p.Glu1917Gln)
c.5722G>C (p.Glu1908Gln)
c.5659G>C (p.Glu1887Gln)
c.5530G>C (p.Glu1844Gln)
c.5518G>C (p.Glu1840Gln)
c.5491G>C (p.Glu1831Gln)
n.6075G>C
c.5845G>C (p.Glu1949Gln)
c.5839G>C (p.Glu1947Gln)
c.5836G>C (p.Glu1946Gln)
c.5731G>C (p.Glu1911Gln)
c.5728G>C (p.Glu1910Gln)
n.5860G>C
n.5775G>C
n.5846G>C
11g.77207301G>TCA381953869MYO7Ac.5755G>T (p.Glu1919Ter)
c.3582G>T
c.5608G>T (p.Glu1870Ter)
c.3181G>T (p.Glu1061Ter)
c.5641G>T (p.Glu1881Ter)
n.3291G>T
n.669G>T
c.5638G>T (p.Glu1880Ter)
c.5746G>T (p.Glu1916Ter)
c.5749G>T (p.Glu1917Ter)
c.5722G>T (p.Glu1908Ter)
c.5659G>T (p.Glu1887Ter)
c.5530G>T (p.Glu1844Ter)
c.5518G>T (p.Glu1840Ter)
c.5491G>T (p.Glu1831Ter)
n.6075G>T
c.5845G>T (p.Glu1949Ter)
c.5839G>T (p.Glu1947Ter)
c.5836G>T (p.Glu1946Ter)
c.5731G>T (p.Glu1911Ter)
c.5728G>T (p.Glu1910Ter)
n.5860G>T
n.5775G>T
n.5846G>T
 ClinVar gnomAD v4
11g.77207302A>CCA381953872MYO7Ac.5756A>C (p.Glu1919Ala)
c.3583A>C
c.5609A>C (p.Glu1870Ala)
c.3182A>C (p.Glu1061Ala)
c.5642A>C (p.Glu1881Ala)
n.3292A>C
n.670A>C
c.5639A>C (p.Glu1880Ala)
c.5747A>C (p.Glu1916Ala)
c.5750A>C (p.Glu1917Ala)
c.5723A>C (p.Glu1908Ala)
c.5660A>C (p.Glu1887Ala)
c.5531A>C (p.Glu1844Ala)
c.5519A>C (p.Glu1840Ala)
c.5492A>C (p.Glu1831Ala)
n.6076A>C
c.5846A>C (p.Glu1949Ala)
c.5840A>C (p.Glu1947Ala)
c.5837A>C (p.Glu1946Ala)
c.5732A>C (p.Glu1911Ala)
c.5729A>C (p.Glu1910Ala)
n.5861A>C
n.5776A>C
n.5847A>C
11g.77207302A>GCA381953873MYO7Ac.5756A>G (p.Glu1919Gly)
c.3583A>G
c.5609A>G (p.Glu1870Gly)
c.3182A>G (p.Glu1061Gly)
c.5642A>G (p.Glu1881Gly)
n.3292A>G
n.670A>G
c.5639A>G (p.Glu1880Gly)
c.5747A>G (p.Glu1916Gly)
c.5750A>G (p.Glu1917Gly)
c.5723A>G (p.Glu1908Gly)
c.5660A>G (p.Glu1887Gly)
c.5531A>G (p.Glu1844Gly)
c.5519A>G (p.Glu1840Gly)
c.5492A>G (p.Glu1831Gly)
n.6076A>G
c.5846A>G (p.Glu1949Gly)
c.5840A>G (p.Glu1947Gly)
c.5837A>G (p.Glu1946Gly)
c.5732A>G (p.Glu1911Gly)
c.5729A>G (p.Glu1910Gly)
n.5861A>G
n.5776A>G
n.5847A>G
11g.77207302A>TCA381953874MYO7Ac.5756A>T (p.Glu1919Val)
c.3583A>T
c.5609A>T (p.Glu1870Val)
c.3182A>T (p.Glu1061Val)
c.5642A>T (p.Glu1881Val)
n.3292A>T
n.670A>T
c.5639A>T (p.Glu1880Val)
c.5747A>T (p.Glu1916Val)
c.5750A>T (p.Glu1917Val)
c.5723A>T (p.Glu1908Val)
c.5660A>T (p.Glu1887Val)
c.5531A>T (p.Glu1844Val)
c.5519A>T (p.Glu1840Val)
c.5492A>T (p.Glu1831Val)
n.6076A>T
c.5846A>T (p.Glu1949Val)
c.5840A>T (p.Glu1947Val)
c.5837A>T (p.Glu1946Val)
c.5732A>T (p.Glu1911Val)
c.5729A>T (p.Glu1910Val)
n.5861A>T
n.5776A>T
n.5847A>T
 gnomAD v4
11g.77207303G>ACA475797291MYO7Ac.5757G>A (p.Glu1919=)
c.3584G>A
c.5610G>A (p.Glu1870=)
c.3183G>A (p.Glu1061=)
c.5643G>A (p.Glu1881=)
n.3293G>A
n.671G>A
c.5640G>A (p.Glu1880=)
c.5748G>A (p.Glu1916=)
c.5751G>A (p.Glu1917=)
c.5724G>A (p.Glu1908=)
c.5661G>A (p.Glu1887=)
c.5532G>A (p.Glu1844=)
c.5520G>A (p.Glu1840=)
c.5493G>A (p.Glu1831=)
n.6077G>A
c.5847G>A (p.Glu1949=)
c.5841G>A (p.Glu1947=)
c.5838G>A (p.Glu1946=)
c.5733G>A (p.Glu1911=)
c.5730G>A (p.Glu1910=)
n.5862G>A
n.5777G>A
n.5848G>A
11g.77207303G>CCA381953875MYO7Ac.5757G>C (p.Glu1919Asp)
c.3584G>C
c.5610G>C (p.Glu1870Asp)
c.3183G>C (p.Glu1061Asp)
c.5643G>C (p.Glu1881Asp)
n.3293G>C
n.671G>C
c.5640G>C (p.Glu1880Asp)
c.5748G>C (p.Glu1916Asp)
c.5751G>C (p.Glu1917Asp)
c.5724G>C (p.Glu1908Asp)
c.5661G>C (p.Glu1887Asp)
c.5532G>C (p.Glu1844Asp)
c.5520G>C (p.Glu1840Asp)
c.5493G>C (p.Glu1831Asp)
n.6077G>C
c.5847G>C (p.Glu1949Asp)
c.5841G>C (p.Glu1947Asp)
c.5838G>C (p.Glu1946Asp)
c.5733G>C (p.Glu1911Asp)
c.5730G>C (p.Glu1910Asp)
n.5862G>C
n.5777G>C
n.5848G>C
11g.77207303G>TCA381953876MYO7Ac.5757G>T (p.Glu1919Asp)
c.3584G>T
c.5610G>T (p.Glu1870Asp)
c.3183G>T (p.Glu1061Asp)
c.5643G>T (p.Glu1881Asp)
n.3293G>T
n.671G>T
c.5640G>T (p.Glu1880Asp)
c.5748G>T (p.Glu1916Asp)
c.5751G>T (p.Glu1917Asp)
c.5724G>T (p.Glu1908Asp)
c.5661G>T (p.Glu1887Asp)
c.5532G>T (p.Glu1844Asp)
c.5520G>T (p.Glu1840Asp)
c.5493G>T (p.Glu1831Asp)
n.6077G>T
c.5847G>T (p.Glu1949Asp)
c.5841G>T (p.Glu1947Asp)
c.5838G>T (p.Glu1946Asp)
c.5733G>T (p.Glu1911Asp)
c.5730G>T (p.Glu1910Asp)
n.5862G>T
n.5777G>T
n.5848G>T
11g.77207304T>ACA381953879MYO7Ac.5758T>A (p.Ser1920Thr)
c.3585T>A
c.5611T>A (p.Ser1871Thr)
c.3184T>A (p.Ser1062Thr)
c.5644T>A (p.Ser1882Thr)
n.3294T>A
n.672T>A
c.5641T>A (p.Ser1881Thr)
c.5749T>A (p.Ser1917Thr)
c.5752T>A (p.Ser1918Thr)
c.5725T>A (p.Ser1909Thr)
c.5662T>A (p.Ser1888Thr)
c.5533T>A (p.Ser1845Thr)
c.5521T>A (p.Ser1841Thr)
c.5494T>A (p.Ser1832Thr)
n.6078T>A
c.5848T>A (p.Ser1950Thr)
c.5842T>A (p.Ser1948Thr)
c.5839T>A (p.Ser1947Thr)
c.5734T>A (p.Ser1912Thr)
c.5731T>A (p.Ser1911Thr)
n.5863T>A
n.5778T>A
n.5849T>A
11g.77207304T>CCA381953882MYO7Ac.5758T>C (p.Ser1920Pro)
c.3585T>C
c.5611T>C (p.Ser1871Pro)
c.3184T>C (p.Ser1062Pro)
c.5644T>C (p.Ser1882Pro)
n.3294T>C
n.672T>C
c.5641T>C (p.Ser1881Pro)
c.5749T>C (p.Ser1917Pro)
c.5752T>C (p.Ser1918Pro)
c.5725T>C (p.Ser1909Pro)
c.5662T>C (p.Ser1888Pro)
c.5533T>C (p.Ser1845Pro)
c.5521T>C (p.Ser1841Pro)
c.5494T>C (p.Ser1832Pro)
n.6078T>C
c.5848T>C (p.Ser1950Pro)
c.5842T>C (p.Ser1948Pro)
c.5839T>C (p.Ser1947Pro)
c.5734T>C (p.Ser1912Pro)
c.5731T>C (p.Ser1911Pro)
n.5863T>C
n.5778T>C
n.5849T>C
11g.77207304T>GCA381953881MYO7Ac.5758T>G (p.Ser1920Ala)
c.3585T>G
c.5611T>G (p.Ser1871Ala)
c.3184T>G (p.Ser1062Ala)
c.5644T>G (p.Ser1882Ala)
n.3294T>G
n.672T>G
c.5641T>G (p.Ser1881Ala)
c.5749T>G (p.Ser1917Ala)
c.5752T>G (p.Ser1918Ala)
c.5725T>G (p.Ser1909Ala)
c.5662T>G (p.Ser1888Ala)
c.5533T>G (p.Ser1845Ala)
c.5521T>G (p.Ser1841Ala)
c.5494T>G (p.Ser1832Ala)
n.6078T>G
c.5848T>G (p.Ser1950Ala)
c.5842T>G (p.Ser1948Ala)
c.5839T>G (p.Ser1947Ala)
c.5734T>G (p.Ser1912Ala)
c.5731T>G (p.Ser1911Ala)
n.5863T>G
n.5778T>G
n.5849T>G
11g.77207305C>ACA381953885MYO7Ac.5759C>A (p.Ser1920Tyr)
c.3586C>A
c.5612C>A (p.Ser1871Tyr)
c.3185C>A (p.Ser1062Tyr)
c.5645C>A (p.Ser1882Tyr)
n.3295C>A
n.673C>A
c.5642C>A (p.Ser1881Tyr)
c.5750C>A (p.Ser1917Tyr)
c.5753C>A (p.Ser1918Tyr)
c.5726C>A (p.Ser1909Tyr)
c.5663C>A (p.Ser1888Tyr)
c.5534C>A (p.Ser1845Tyr)
c.5522C>A (p.Ser1841Tyr)
c.5495C>A (p.Ser1832Tyr)
n.6079C>A
c.5849C>A (p.Ser1950Tyr)
c.5843C>A (p.Ser1948Tyr)
c.5840C>A (p.Ser1947Tyr)
c.5735C>A (p.Ser1912Tyr)
c.5732C>A (p.Ser1911Tyr)
n.5864C>A
n.5779C>A
n.5850C>A
11g.77207305C>GCA381953886MYO7Ac.5759C>G (p.Ser1920Cys)
c.3586C>G
c.5612C>G (p.Ser1871Cys)
c.3185C>G (p.Ser1062Cys)
c.5645C>G (p.Ser1882Cys)
n.3295C>G
n.673C>G
c.5642C>G (p.Ser1881Cys)
c.5750C>G (p.Ser1917Cys)
c.5753C>G (p.Ser1918Cys)
c.5726C>G (p.Ser1909Cys)
c.5663C>G (p.Ser1888Cys)
c.5534C>G (p.Ser1845Cys)
c.5522C>G (p.Ser1841Cys)
c.5495C>G (p.Ser1832Cys)
n.6079C>G
c.5849C>G (p.Ser1950Cys)
c.5843C>G (p.Ser1948Cys)
c.5840C>G (p.Ser1947Cys)
c.5735C>G (p.Ser1912Cys)
c.5732C>G (p.Ser1911Cys)
n.5864C>G
n.5779C>G
n.5850C>G
11g.77207305C>TCA381953888MYO7Ac.5759C>T (p.Ser1920Phe)
c.3586C>T
c.5612C>T (p.Ser1871Phe)
c.3185C>T (p.Ser1062Phe)
c.5645C>T (p.Ser1882Phe)
n.3295C>T
n.673C>T
c.5642C>T (p.Ser1881Phe)
c.5750C>T (p.Ser1917Phe)
c.5753C>T (p.Ser1918Phe)
c.5726C>T (p.Ser1909Phe)
c.5663C>T (p.Ser1888Phe)
c.5534C>T (p.Ser1845Phe)
c.5522C>T (p.Ser1841Phe)
c.5495C>T (p.Ser1832Phe)
n.6079C>T
c.5849C>T (p.Ser1950Phe)
c.5843C>T (p.Ser1948Phe)
c.5840C>T (p.Ser1947Phe)
c.5735C>T (p.Ser1912Phe)
c.5732C>T (p.Ser1911Phe)
n.5864C>T
n.5779C>T
n.5850C>T
11g.77207306C>ACA475797292MYO7Ac.5760C>A (p.Ser1920=)
c.3587C>A
c.5613C>A (p.Ser1871=)
c.3186C>A (p.Ser1062=)
c.5646C>A (p.Ser1882=)
n.3296C>A
n.674C>A
c.5643C>A (p.Ser1881=)
c.5751C>A (p.Ser1917=)
c.5754C>A (p.Ser1918=)
c.5727C>A (p.Ser1909=)
c.5664C>A (p.Ser1888=)
c.5535C>A (p.Ser1845=)
c.5523C>A (p.Ser1841=)
c.5496C>A (p.Ser1832=)
n.6080C>A
c.5850C>A (p.Ser1950=)
c.5844C>A (p.Ser1948=)
c.5841C>A (p.Ser1947=)
c.5736C>A (p.Ser1912=)
c.5733C>A (p.Ser1911=)
n.5865C>A
n.5780C>A
n.5851C>A
 ClinVar dbSNP
11g.77207306C=CA1984127850MYO7Ac.5760C= (p.Ser1920=)
c.3587C=
c.5613C= (p.Ser1871=)
c.3186C= (p.Ser1062=)
c.5646C= (p.Ser1882=)
n.3296C=
n.674C=
c.5643C= (p.Ser1881=)
c.5751C= (p.Ser1917=)
c.5754C= (p.Ser1918=)
c.5727C= (p.Ser1909=)
c.5664C= (p.Ser1888=)
c.5535C= (p.Ser1845=)
c.5523C= (p.Ser1841=)
c.5496C= (p.Ser1832=)
n.6080C=
c.5850C= (p.Ser1950=)
c.5844C= (p.Ser1948=)
c.5841C= (p.Ser1947=)
c.5736C= (p.Ser1912=)
c.5733C= (p.Ser1911=)
n.5865C=
n.5780C=
n.5851C=
11g.77207306C>GCA475797293MYO7Ac.5760C>G (p.Ser1920=)
c.3587C>G
c.5613C>G (p.Ser1871=)
c.3186C>G (p.Ser1062=)
c.5646C>G (p.Ser1882=)
n.3296C>G
n.674C>G
c.5643C>G (p.Ser1881=)
c.5751C>G (p.Ser1917=)
c.5754C>G (p.Ser1918=)
c.5727C>G (p.Ser1909=)
c.5664C>G (p.Ser1888=)
c.5535C>G (p.Ser1845=)
c.5523C>G (p.Ser1841=)
c.5496C>G (p.Ser1832=)
n.6080C>G
c.5850C>G (p.Ser1950=)
c.5844C>G (p.Ser1948=)
c.5841C>G (p.Ser1947=)
c.5736C>G (p.Ser1912=)
c.5733C>G (p.Ser1911=)
n.5865C>G
n.5780C>G
n.5851C>G
11g.77207306C>TCA475797294MYO7Ac.5760C>T (p.Ser1920=)
c.3587C>T
c.5613C>T (p.Ser1871=)
c.3186C>T (p.Ser1062=)
c.5646C>T (p.Ser1882=)
n.3296C>T
n.674C>T
c.5643C>T (p.Ser1881=)
c.5751C>T (p.Ser1917=)
c.5754C>T (p.Ser1918=)
c.5727C>T (p.Ser1909=)
c.5664C>T (p.Ser1888=)
c.5535C>T (p.Ser1845=)
c.5523C>T (p.Ser1841=)
c.5496C>T (p.Ser1832=)
n.6080C>T
c.5850C>T (p.Ser1950=)
c.5844C>T (p.Ser1948=)
c.5841C>T (p.Ser1947=)
c.5736C>T (p.Ser1912=)
c.5733C>T (p.Ser1911=)
n.5865C>T
n.5780C>T
n.5851C>T
 ClinVar dbSNP gnomAD v4
11g.77207307A=CA1984127851MYO7Ac.5761A= (p.Ser1921=)
c.3588A=
c.5614A= (p.Ser1872=)
c.3187A= (p.Ser1063=)
c.5647A= (p.Ser1883=)
n.3297A=
n.675A=
c.5644A= (p.Ser1882=)
c.5752A= (p.Ser1918=)
c.5755A= (p.Ser1919=)
c.5728A= (p.Ser1910=)
c.5665A= (p.Ser1889=)
c.5536A= (p.Ser1846=)
c.5524A= (p.Ser1842=)
c.5497A= (p.Ser1833=)
n.6081A=
c.5851A= (p.Ser1951=)
c.5845A= (p.Ser1949=)
c.5842A= (p.Ser1948=)
c.5737A= (p.Ser1913=)
c.5734A= (p.Ser1912=)
n.5866A=
n.5781A=
n.5852A=
11g.77207307A>CCA381953890MYO7Ac.5761A>C (p.Ser1921Arg)
c.3588A>C
c.5614A>C (p.Ser1872Arg)
c.3187A>C (p.Ser1063Arg)
c.5647A>C (p.Ser1883Arg)
n.3297A>C
n.675A>C
c.5644A>C (p.Ser1882Arg)
c.5752A>C (p.Ser1918Arg)
c.5755A>C (p.Ser1919Arg)
c.5728A>C (p.Ser1910Arg)
c.5665A>C (p.Ser1889Arg)
c.5536A>C (p.Ser1846Arg)
c.5524A>C (p.Ser1842Arg)
c.5497A>C (p.Ser1833Arg)
n.6081A>C
c.5851A>C (p.Ser1951Arg)
c.5845A>C (p.Ser1949Arg)
c.5842A>C (p.Ser1948Arg)
c.5737A>C (p.Ser1913Arg)
c.5734A>C (p.Ser1912Arg)
n.5866A>C
n.5781A>C
n.5852A>C
11g.77207307A>GCA381953892MYO7Ac.5761A>G (p.Ser1921Gly)
c.3588A>G
c.5614A>G (p.Ser1872Gly)
c.3187A>G (p.Ser1063Gly)
c.5647A>G (p.Ser1883Gly)
n.3297A>G
n.675A>G
c.5644A>G (p.Ser1882Gly)
c.5752A>G (p.Ser1918Gly)
c.5755A>G (p.Ser1919Gly)
c.5728A>G (p.Ser1910Gly)
c.5665A>G (p.Ser1889Gly)
c.5536A>G (p.Ser1846Gly)
c.5524A>G (p.Ser1842Gly)
c.5497A>G (p.Ser1833Gly)
n.6081A>G
c.5851A>G (p.Ser1951Gly)
c.5845A>G (p.Ser1949Gly)
c.5842A>G (p.Ser1948Gly)
c.5737A>G (p.Ser1913Gly)
c.5734A>G (p.Ser1912Gly)
n.5866A>G
n.5781A>G
n.5852A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77207307A>TCA381953893MYO7Ac.5761A>T (p.Ser1921Cys)
c.3588A>T
c.5614A>T (p.Ser1872Cys)
c.3187A>T (p.Ser1063Cys)
c.5647A>T (p.Ser1883Cys)
n.3297A>T
n.675A>T
c.5644A>T (p.Ser1882Cys)
c.5752A>T (p.Ser1918Cys)
c.5755A>T (p.Ser1919Cys)
c.5728A>T (p.Ser1910Cys)
c.5665A>T (p.Ser1889Cys)
c.5536A>T (p.Ser1846Cys)
c.5524A>T (p.Ser1842Cys)
c.5497A>T (p.Ser1833Cys)
n.6081A>T
c.5851A>T (p.Ser1951Cys)
c.5845A>T (p.Ser1949Cys)
c.5842A>T (p.Ser1948Cys)
c.5737A>T (p.Ser1913Cys)
c.5734A>T (p.Ser1912Cys)
n.5866A>T
n.5781A>T
n.5852A>T
11g.77207308G>ACA381953895MYO7Ac.5762G>A (p.Ser1921Asn)
c.3589G>A
c.5615G>A (p.Ser1872Asn)
c.3188G>A (p.Ser1063Asn)
c.5648G>A (p.Ser1883Asn)
n.3298G>A
n.676G>A
c.5645G>A (p.Ser1882Asn)
c.5753G>A (p.Ser1918Asn)
c.5756G>A (p.Ser1919Asn)
c.5729G>A (p.Ser1910Asn)
c.5666G>A (p.Ser1889Asn)
c.5537G>A (p.Ser1846Asn)
c.5525G>A (p.Ser1842Asn)
c.5498G>A (p.Ser1833Asn)
n.6082G>A
c.5852G>A (p.Ser1951Asn)
c.5846G>A (p.Ser1949Asn)
c.5843G>A (p.Ser1948Asn)
c.5738G>A (p.Ser1913Asn)
c.5735G>A (p.Ser1912Asn)
n.5867G>A
n.5782G>A
n.5853G>A
 gnomAD v4
11g.77207308G>CCA381953897MYO7Ac.5762G>C (p.Ser1921Thr)
c.3589G>C
c.5615G>C (p.Ser1872Thr)
c.3188G>C (p.Ser1063Thr)
c.5648G>C (p.Ser1883Thr)
n.3298G>C
n.676G>C
c.5645G>C (p.Ser1882Thr)
c.5753G>C (p.Ser1918Thr)
c.5756G>C (p.Ser1919Thr)
c.5729G>C (p.Ser1910Thr)
c.5666G>C (p.Ser1889Thr)
c.5537G>C (p.Ser1846Thr)
c.5525G>C (p.Ser1842Thr)
c.5498G>C (p.Ser1833Thr)
n.6082G>C
c.5852G>C (p.Ser1951Thr)
c.5846G>C (p.Ser1949Thr)
c.5843G>C (p.Ser1948Thr)
c.5738G>C (p.Ser1913Thr)
c.5735G>C (p.Ser1912Thr)
n.5867G>C
n.5782G>C
n.5853G>C
 dbSNP
11g.77207308G>TCA381953899MYO7Ac.5762G>T (p.Ser1921Ile)
c.3589G>T
c.5615G>T (p.Ser1872Ile)
c.3188G>T (p.Ser1063Ile)
c.5648G>T (p.Ser1883Ile)
n.3298G>T
n.676G>T
c.5645G>T (p.Ser1882Ile)
c.5753G>T (p.Ser1918Ile)
c.5756G>T (p.Ser1919Ile)
c.5729G>T (p.Ser1910Ile)
c.5666G>T (p.Ser1889Ile)
c.5537G>T (p.Ser1846Ile)
c.5525G>T (p.Ser1842Ile)
c.5498G>T (p.Ser1833Ile)
n.6082G>T
c.5852G>T (p.Ser1951Ile)
c.5846G>T (p.Ser1949Ile)
c.5843G>T (p.Ser1948Ile)
c.5738G>T (p.Ser1913Ile)
c.5735G>T (p.Ser1912Ile)
n.5867G>T
n.5782G>T
n.5853G>T
11g.77207309C>ACA381953901MYO7Ac.5763C>A (p.Ser1921Arg)
c.3590C>A
c.5616C>A (p.Ser1872Arg)
c.3189C>A (p.Ser1063Arg)
c.5649C>A (p.Ser1883Arg)
n.3299C>A
n.677C>A
c.5646C>A (p.Ser1882Arg)
c.5754C>A (p.Ser1918Arg)
c.5757C>A (p.Ser1919Arg)
c.5730C>A (p.Ser1910Arg)
c.5667C>A (p.Ser1889Arg)
c.5538C>A (p.Ser1846Arg)
c.5526C>A (p.Ser1842Arg)
c.5499C>A (p.Ser1833Arg)
n.6083C>A
c.5853C>A (p.Ser1951Arg)
c.5847C>A (p.Ser1949Arg)
c.5844C>A (p.Ser1948Arg)
c.5739C>A (p.Ser1913Arg)
c.5736C>A (p.Ser1912Arg)
n.5868C>A
n.5783C>A
n.5854C>A
11g.77207309C>GCA381953903MYO7Ac.5763C>G (p.Ser1921Arg)
c.3590C>G
c.5616C>G (p.Ser1872Arg)
c.3189C>G (p.Ser1063Arg)
c.5649C>G (p.Ser1883Arg)
n.3299C>G
n.677C>G
c.5646C>G (p.Ser1882Arg)
c.5754C>G (p.Ser1918Arg)
c.5757C>G (p.Ser1919Arg)
c.5730C>G (p.Ser1910Arg)
c.5667C>G (p.Ser1889Arg)
c.5538C>G (p.Ser1846Arg)
c.5526C>G (p.Ser1842Arg)
c.5499C>G (p.Ser1833Arg)
n.6083C>G
c.5853C>G (p.Ser1951Arg)
c.5847C>G (p.Ser1949Arg)
c.5844C>G (p.Ser1948Arg)
c.5739C>G (p.Ser1913Arg)
c.5736C>G (p.Ser1912Arg)
n.5868C>G
n.5783C>G
n.5854C>G
 gnomAD v4
11g.77207309C>TCA475797295MYO7Ac.5763C>T (p.Ser1921=)
c.3590C>T
c.5616C>T (p.Ser1872=)
c.3189C>T (p.Ser1063=)
c.5649C>T (p.Ser1883=)
n.3299C>T
n.677C>T
c.5646C>T (p.Ser1882=)
c.5754C>T (p.Ser1918=)
c.5757C>T (p.Ser1919=)
c.5730C>T (p.Ser1910=)
c.5667C>T (p.Ser1889=)
c.5538C>T (p.Ser1846=)
c.5526C>T (p.Ser1842=)
c.5499C>T (p.Ser1833=)
n.6083C>T
c.5853C>T (p.Ser1951=)
c.5847C>T (p.Ser1949=)
c.5844C>T (p.Ser1948=)
c.5739C>T (p.Ser1913=)
c.5736C>T (p.Ser1912=)
n.5868C>T
n.5783C>T
n.5854C>T
11g.77207310A>CCA381953906MYO7Ac.5764A>C (p.Thr1922Pro)
c.3591A>C
c.5617A>C (p.Thr1873Pro)
c.3190A>C (p.Thr1064Pro)
c.5650A>C (p.Thr1884Pro)
n.3300A>C
n.678A>C
c.5647A>C (p.Thr1883Pro)
c.5755A>C (p.Thr1919Pro)
c.5758A>C (p.Thr1920Pro)
c.5731A>C (p.Thr1911Pro)
c.5668A>C (p.Thr1890Pro)
c.5539A>C (p.Thr1847Pro)
c.5527A>C (p.Thr1843Pro)
c.5500A>C (p.Thr1834Pro)
n.6084A>C
c.5854A>C (p.Thr1952Pro)
c.5848A>C (p.Thr1950Pro)
c.5845A>C (p.Thr1949Pro)
c.5740A>C (p.Thr1914Pro)
c.5737A>C (p.Thr1913Pro)
n.5869A>C
n.5784A>C
n.5855A>C
11g.77207310A>GCA381953904MYO7Ac.5764A>G (p.Thr1922Ala)
c.3591A>G
c.5617A>G (p.Thr1873Ala)
c.3190A>G (p.Thr1064Ala)
c.5650A>G (p.Thr1884Ala)
n.3300A>G
n.678A>G
c.5647A>G (p.Thr1883Ala)
c.5755A>G (p.Thr1919Ala)
c.5758A>G (p.Thr1920Ala)
c.5731A>G (p.Thr1911Ala)
c.5668A>G (p.Thr1890Ala)
c.5539A>G (p.Thr1847Ala)
c.5527A>G (p.Thr1843Ala)
c.5500A>G (p.Thr1834Ala)
n.6084A>G
c.5854A>G (p.Thr1952Ala)
c.5848A>G (p.Thr1950Ala)
c.5845A>G (p.Thr1949Ala)
c.5740A>G (p.Thr1914Ala)
c.5737A>G (p.Thr1913Ala)
n.5869A>G
n.5784A>G
n.5855A>G
11g.77207310A>TCA381953905MYO7Ac.5764A>T (p.Thr1922Ser)
c.3591A>T
c.5617A>T (p.Thr1873Ser)
c.3190A>T (p.Thr1064Ser)
c.5650A>T (p.Thr1884Ser)
n.3300A>T
n.678A>T
c.5647A>T (p.Thr1883Ser)
c.5755A>T (p.Thr1919Ser)
c.5758A>T (p.Thr1920Ser)
c.5731A>T (p.Thr1911Ser)
c.5668A>T (p.Thr1890Ser)
c.5539A>T (p.Thr1847Ser)
c.5527A>T (p.Thr1843Ser)
c.5500A>T (p.Thr1834Ser)
n.6084A>T
c.5854A>T (p.Thr1952Ser)
c.5848A>T (p.Thr1950Ser)
c.5845A>T (p.Thr1949Ser)
c.5740A>T (p.Thr1914Ser)
c.5737A>T (p.Thr1913Ser)
n.5869A>T
n.5784A>T
n.5855A>T
11g.77207310_77207315delCA2615268336MYO7Ac.5764_5769del (p.Thr1922_Lys1923del)
c.3591_3596del
c.5617_5622del (p.Thr1873_Lys1874del)
c.3190_3195del (p.Thr1064_Lys1065del)
c.5650_5655del (p.Thr1884_Lys1885del)
n.3300_3305del
n.678_683del
c.5647_5652del (p.Thr1883_Lys1884del)
c.5755_5760del (p.Thr1919_Lys1920del)
c.5758_5763del (p.Thr1920_Lys1921del)
c.5731_5736del (p.Thr1911_Lys1912del)
c.5668_5673del (p.Thr1890_Lys1891del)
c.5539_5544del (p.Thr1847_Lys1848del)
c.5527_5532del (p.Thr1843_Lys1844del)
c.5500_5505del (p.Thr1834_Lys1835del)
n.6084_6089del
c.5854_5859del (p.Thr1952_Lys1953del)
c.5848_5853del (p.Thr1950_Lys1951del)
c.5845_5850del (p.Thr1949_Lys1950del)
c.5740_5745del (p.Thr1914_Lys1915del)
c.5737_5742del (p.Thr1913_Lys1914del)
n.5869_5874del
n.5784_5789del
n.5855_5860del
 gnomAD v4
11g.77207311C>ACA381953907MYO7Ac.5765C>A (p.Thr1922Asn)
c.3592C>A
c.5618C>A (p.Thr1873Asn)
c.3191C>A (p.Thr1064Asn)
c.5651C>A (p.Thr1884Asn)
n.3301C>A
n.679C>A
c.5648C>A (p.Thr1883Asn)
c.5756C>A (p.Thr1919Asn)
c.5759C>A (p.Thr1920Asn)
c.5732C>A (p.Thr1911Asn)
c.5669C>A (p.Thr1890Asn)
c.5540C>A (p.Thr1847Asn)
c.5528C>A (p.Thr1843Asn)
c.5501C>A (p.Thr1834Asn)
n.6085C>A
c.5855C>A (p.Thr1952Asn)
c.5849C>A (p.Thr1950Asn)
c.5846C>A (p.Thr1949Asn)
c.5741C>A (p.Thr1914Asn)
c.5738C>A (p.Thr1913Asn)
n.5870C>A
n.5785C>A
n.5856C>A
11g.77207311C>GCA381953909MYO7Ac.5765C>G (p.Thr1922Ser)
c.3592C>G
c.5618C>G (p.Thr1873Ser)
c.3191C>G (p.Thr1064Ser)
c.5651C>G (p.Thr1884Ser)
n.3301C>G
n.679C>G
c.5648C>G (p.Thr1883Ser)
c.5756C>G (p.Thr1919Ser)
c.5759C>G (p.Thr1920Ser)
c.5732C>G (p.Thr1911Ser)
c.5669C>G (p.Thr1890Ser)
c.5540C>G (p.Thr1847Ser)
c.5528C>G (p.Thr1843Ser)
c.5501C>G (p.Thr1834Ser)
n.6085C>G
c.5855C>G (p.Thr1952Ser)
c.5849C>G (p.Thr1950Ser)
c.5846C>G (p.Thr1949Ser)
c.5741C>G (p.Thr1914Ser)
c.5738C>G (p.Thr1913Ser)
n.5870C>G
n.5785C>G
n.5856C>G
11g.77207311C>TCA381953910MYO7Ac.5765C>T (p.Thr1922Ile)
c.3592C>T
c.5618C>T (p.Thr1873Ile)
c.3191C>T (p.Thr1064Ile)
c.5651C>T (p.Thr1884Ile)
n.3301C>T
n.679C>T
c.5648C>T (p.Thr1883Ile)
c.5756C>T (p.Thr1919Ile)
c.5759C>T (p.Thr1920Ile)
c.5732C>T (p.Thr1911Ile)
c.5669C>T (p.Thr1890Ile)
c.5540C>T (p.Thr1847Ile)
c.5528C>T (p.Thr1843Ile)
c.5501C>T (p.Thr1834Ile)
n.6085C>T
c.5855C>T (p.Thr1952Ile)
c.5849C>T (p.Thr1950Ile)
c.5846C>T (p.Thr1949Ile)
c.5741C>T (p.Thr1914Ile)
c.5738C>T (p.Thr1913Ile)
n.5870C>T
n.5785C>T
n.5856C>T
11g.77207312delCA2615268338MYO7Ac.5766del (p.Lys1923ArgfsTer?)
c.3593del
c.5619del (p.Lys1874ArgfsTer?)
c.3192del (p.Lys1065ArgfsTer?)
c.5652del (p.Lys1885ArgfsTer?)
n.3302del
n.680del
c.5649del (p.Lys1884ArgfsTer?)
c.5757del (p.Lys1920ArgfsTer?)
c.5760del (p.Lys1921ArgfsTer?)
c.5733del (p.Lys1912ArgfsTer?)
c.5670del (p.Lys1891ArgfsTer?)
c.5541del (p.Lys1848ArgfsTer?)
c.5529del (p.Lys1844ArgfsTer?)
c.5502del (p.Lys1835ArgfsTer?)
n.6086del
c.5856del (p.Lys1953ArgfsTer?)
c.5850del (p.Lys1951ArgfsTer?)
c.5847del (p.Lys1950ArgfsTer?)
c.5742del (p.Lys1915ArgfsTer?)
c.5739del (p.Lys1914ArgfsTer?)
n.5871del
n.5786del
n.5857del
 gnomAD v4
11g.77207312C>ACA475797296MYO7Ac.5766C>A (p.Thr1922=)
c.3593C>A
c.5619C>A (p.Thr1873=)
c.3192C>A (p.Thr1064=)
c.5652C>A (p.Thr1884=)
n.3302C>A
n.680C>A
c.5649C>A (p.Thr1883=)
c.5757C>A (p.Thr1919=)
c.5760C>A (p.Thr1920=)
c.5733C>A (p.Thr1911=)
c.5670C>A (p.Thr1890=)
c.5541C>A (p.Thr1847=)
c.5529C>A (p.Thr1843=)
c.5502C>A (p.Thr1834=)
n.6086C>A
c.5856C>A (p.Thr1952=)
c.5850C>A (p.Thr1950=)
c.5847C>A (p.Thr1949=)
c.5742C>A (p.Thr1914=)
c.5739C>A (p.Thr1913=)
n.5871C>A
n.5786C>A
n.5857C>A
11g.77207312C=CA1984127852MYO7Ac.5766C= (p.Thr1922=)
c.3593C=
c.5619C= (p.Thr1873=)
c.3192C= (p.Thr1064=)
c.5652C= (p.Thr1884=)
n.3302C=
n.680C=
c.5649C= (p.Thr1883=)
c.5757C= (p.Thr1919=)
c.5760C= (p.Thr1920=)
c.5733C= (p.Thr1911=)
c.5670C= (p.Thr1890=)
c.5541C= (p.Thr1847=)
c.5529C= (p.Thr1843=)
c.5502C= (p.Thr1834=)
n.6086C=
c.5856C= (p.Thr1952=)
c.5850C= (p.Thr1950=)
c.5847C= (p.Thr1949=)
c.5742C= (p.Thr1914=)
c.5739C= (p.Thr1913=)
n.5871C=
n.5786C=
n.5857C=
11g.77207312C>GCA475797297MYO7Ac.5766C>G (p.Thr1922=)
c.3593C>G
c.5619C>G (p.Thr1873=)
c.3192C>G (p.Thr1064=)
c.5652C>G (p.Thr1884=)
n.3302C>G
n.680C>G
c.5649C>G (p.Thr1883=)
c.5757C>G (p.Thr1919=)
c.5760C>G (p.Thr1920=)
c.5733C>G (p.Thr1911=)
c.5670C>G (p.Thr1890=)
c.5541C>G (p.Thr1847=)
c.5529C>G (p.Thr1843=)
c.5502C>G (p.Thr1834=)
n.6086C>G
c.5856C>G (p.Thr1952=)
c.5850C>G (p.Thr1950=)
c.5847C>G (p.Thr1949=)
c.5742C>G (p.Thr1914=)
c.5739C>G (p.Thr1913=)
n.5871C>G
n.5786C>G
n.5857C>G
11g.77207312C>TCA475797298MYO7Ac.5766C>T (p.Thr1922=)
c.3593C>T
c.5619C>T (p.Thr1873=)
c.3192C>T (p.Thr1064=)
c.5652C>T (p.Thr1884=)
n.3302C>T
n.680C>T
c.5649C>T (p.Thr1883=)
c.5757C>T (p.Thr1919=)
c.5760C>T (p.Thr1920=)
c.5733C>T (p.Thr1911=)
c.5670C>T (p.Thr1890=)
c.5541C>T (p.Thr1847=)
c.5529C>T (p.Thr1843=)
c.5502C>T (p.Thr1834=)
n.6086C>T
c.5856C>T (p.Thr1952=)
c.5850C>T (p.Thr1950=)
c.5847C>T (p.Thr1949=)
c.5742C>T (p.Thr1914=)
c.5739C>T (p.Thr1913=)
n.5871C>T
n.5786C>T
n.5857C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77207313A>CCA381953913MYO7Ac.5767A>C (p.Lys1923Gln)
c.3594A>C
c.5620A>C (p.Lys1874Gln)
c.3193A>C (p.Lys1065Gln)
c.5653A>C (p.Lys1885Gln)
n.3303A>C
n.681A>C
c.5650A>C (p.Lys1884Gln)
c.5758A>C (p.Lys1920Gln)
c.5761A>C (p.Lys1921Gln)
c.5734A>C (p.Lys1912Gln)
c.5671A>C (p.Lys1891Gln)
c.5542A>C (p.Lys1848Gln)
c.5530A>C (p.Lys1844Gln)
c.5503A>C (p.Lys1835Gln)
n.6087A>C
c.5857A>C (p.Lys1953Gln)
c.5851A>C (p.Lys1951Gln)
c.5848A>C (p.Lys1950Gln)
c.5743A>C (p.Lys1915Gln)
c.5740A>C (p.Lys1914Gln)
n.5872A>C
n.5787A>C
n.5858A>C
11g.77207313A>GCA381953915MYO7Ac.5767A>G (p.Lys1923Glu)
c.3594A>G
c.5620A>G (p.Lys1874Glu)
c.3193A>G (p.Lys1065Glu)
c.5653A>G (p.Lys1885Glu)
n.3303A>G
n.681A>G
c.5650A>G (p.Lys1884Glu)
c.5758A>G (p.Lys1920Glu)
c.5761A>G (p.Lys1921Glu)
c.5734A>G (p.Lys1912Glu)
c.5671A>G (p.Lys1891Glu)
c.5542A>G (p.Lys1848Glu)
c.5530A>G (p.Lys1844Glu)
c.5503A>G (p.Lys1835Glu)
n.6087A>G
c.5857A>G (p.Lys1953Glu)
c.5851A>G (p.Lys1951Glu)
c.5848A>G (p.Lys1950Glu)
c.5743A>G (p.Lys1915Glu)
c.5740A>G (p.Lys1914Glu)
n.5872A>G
n.5787A>G
n.5858A>G
 gnomAD v4
11g.77207313A>TCA381953916MYO7Ac.5767A>T (p.Lys1923Ter)
c.3594A>T
c.5620A>T (p.Lys1874Ter)
c.3193A>T (p.Lys1065Ter)
c.5653A>T (p.Lys1885Ter)
n.3303A>T
n.681A>T
c.5650A>T (p.Lys1884Ter)
c.5758A>T (p.Lys1920Ter)
c.5761A>T (p.Lys1921Ter)
c.5734A>T (p.Lys1912Ter)
c.5671A>T (p.Lys1891Ter)
c.5542A>T (p.Lys1848Ter)
c.5530A>T (p.Lys1844Ter)
c.5503A>T (p.Lys1835Ter)
n.6087A>T
c.5857A>T (p.Lys1953Ter)
c.5851A>T (p.Lys1951Ter)
c.5848A>T (p.Lys1950Ter)
c.5743A>T (p.Lys1915Ter)
c.5740A>T (p.Lys1914Ter)
n.5872A>T
n.5787A>T
n.5858A>T
11g.77207314A>CCA381953918MYO7Ac.5768A>C (p.Lys1923Thr)
c.3595A>C
c.5621A>C (p.Lys1874Thr)
c.3194A>C (p.Lys1065Thr)
c.5654A>C (p.Lys1885Thr)
n.3304A>C
n.682A>C
c.5651A>C (p.Lys1884Thr)
c.5759A>C (p.Lys1920Thr)
c.5762A>C (p.Lys1921Thr)
c.5735A>C (p.Lys1912Thr)
c.5672A>C (p.Lys1891Thr)
c.5543A>C (p.Lys1848Thr)
c.5531A>C (p.Lys1844Thr)
c.5504A>C (p.Lys1835Thr)
n.6088A>C
c.5858A>C (p.Lys1953Thr)
c.5852A>C (p.Lys1951Thr)
c.5849A>C (p.Lys1950Thr)
c.5744A>C (p.Lys1915Thr)
c.5741A>C (p.Lys1914Thr)
n.5873A>C
n.5788A>C
n.5859A>C
11g.77207314A>GCA381953920MYO7Ac.5768A>G (p.Lys1923Arg)
c.3595A>G
c.5621A>G (p.Lys1874Arg)
c.3194A>G (p.Lys1065Arg)
c.5654A>G (p.Lys1885Arg)
n.3304A>G
n.682A>G
c.5651A>G (p.Lys1884Arg)
c.5759A>G (p.Lys1920Arg)
c.5762A>G (p.Lys1921Arg)
c.5735A>G (p.Lys1912Arg)
c.5672A>G (p.Lys1891Arg)
c.5543A>G (p.Lys1848Arg)
c.5531A>G (p.Lys1844Arg)
c.5504A>G (p.Lys1835Arg)
n.6088A>G
c.5858A>G (p.Lys1953Arg)
c.5852A>G (p.Lys1951Arg)
c.5849A>G (p.Lys1950Arg)
c.5744A>G (p.Lys1915Arg)
c.5741A>G (p.Lys1914Arg)
n.5873A>G
n.5788A>G
n.5859A>G
11g.77207314A>TCA381953922MYO7Ac.5768A>T (p.Lys1923Met)
c.3595A>T
c.5621A>T (p.Lys1874Met)
c.3194A>T (p.Lys1065Met)
c.5654A>T (p.Lys1885Met)
n.3304A>T
n.682A>T
c.5651A>T (p.Lys1884Met)
c.5759A>T (p.Lys1920Met)
c.5762A>T (p.Lys1921Met)
c.5735A>T (p.Lys1912Met)
c.5672A>T (p.Lys1891Met)
c.5543A>T (p.Lys1848Met)
c.5531A>T (p.Lys1844Met)
c.5504A>T (p.Lys1835Met)
n.6088A>T
c.5858A>T (p.Lys1953Met)
c.5852A>T (p.Lys1951Met)
c.5849A>T (p.Lys1950Met)
c.5744A>T (p.Lys1915Met)
c.5741A>T (p.Lys1914Met)
n.5873A>T
n.5788A>T
n.5859A>T
11g.77207315G>ACA475797299MYO7Ac.5769G>A (p.Lys1923=)
c.3596G>A
c.5622G>A (p.Lys1874=)
c.3195G>A (p.Lys1065=)
c.5655G>A (p.Lys1885=)
n.3305G>A
n.683G>A
c.5652G>A (p.Lys1884=)
c.5760G>A (p.Lys1920=)
c.5763G>A (p.Lys1921=)
c.5736G>A (p.Lys1912=)
c.5673G>A (p.Lys1891=)
c.5544G>A (p.Lys1848=)
c.5532G>A (p.Lys1844=)
c.5505G>A (p.Lys1835=)
n.6089G>A
c.5859G>A (p.Lys1953=)
c.5853G>A (p.Lys1951=)
c.5850G>A (p.Lys1950=)
c.5745G>A (p.Lys1915=)
c.5742G>A (p.Lys1914=)
n.5874G>A
n.5789G>A
n.5860G>A
11g.77207315G>CCA381953924MYO7Ac.5769G>C (p.Lys1923Asn)
c.3596G>C
c.5622G>C (p.Lys1874Asn)
c.3195G>C (p.Lys1065Asn)
c.5655G>C (p.Lys1885Asn)
n.3305G>C
n.683G>C
c.5652G>C (p.Lys1884Asn)
c.5760G>C (p.Lys1920Asn)
c.5763G>C (p.Lys1921Asn)
c.5736G>C (p.Lys1912Asn)
c.5673G>C (p.Lys1891Asn)
c.5544G>C (p.Lys1848Asn)
c.5532G>C (p.Lys1844Asn)
c.5505G>C (p.Lys1835Asn)
n.6089G>C
c.5859G>C (p.Lys1953Asn)
c.5853G>C (p.Lys1951Asn)
c.5850G>C (p.Lys1950Asn)
c.5745G>C (p.Lys1915Asn)
c.5742G>C (p.Lys1914Asn)
n.5874G>C
n.5789G>C
n.5860G>C
11g.77207315G>TCA381953925MYO7Ac.5769G>T (p.Lys1923Asn)
c.3596G>T
c.5622G>T (p.Lys1874Asn)
c.3195G>T (p.Lys1065Asn)
c.5655G>T (p.Lys1885Asn)
n.3305G>T
n.683G>T
c.5652G>T (p.Lys1884Asn)
c.5760G>T (p.Lys1920Asn)
c.5763G>T (p.Lys1921Asn)
c.5736G>T (p.Lys1912Asn)
c.5673G>T (p.Lys1891Asn)
c.5544G>T (p.Lys1848Asn)
c.5532G>T (p.Lys1844Asn)
c.5505G>T (p.Lys1835Asn)
n.6089G>T
c.5859G>T (p.Lys1953Asn)
c.5853G>T (p.Lys1951Asn)
c.5850G>T (p.Lys1950Asn)
c.5745G>T (p.Lys1915Asn)
c.5742G>T (p.Lys1914Asn)
n.5874G>T
n.5789G>T
n.5860G>T
11g.77207316G>ACA381953928MYO7Ac.5770G>A (p.Ala1924Thr)
c.3597G>A
c.5623G>A (p.Ala1875Thr)
c.3196G>A (p.Ala1066Thr)
c.5656G>A (p.Ala1886Thr)
n.3306G>A
n.684G>A
c.5653G>A (p.Ala1885Thr)
c.5761G>A (p.Ala1921Thr)
c.5764G>A (p.Ala1922Thr)
c.5737G>A (p.Ala1913Thr)
c.5674G>A (p.Ala1892Thr)
c.5545G>A (p.Ala1849Thr)
c.5533G>A (p.Ala1845Thr)
c.5506G>A (p.Ala1836Thr)
n.6090G>A
c.5860G>A (p.Ala1954Thr)
c.5854G>A (p.Ala1952Thr)
c.5851G>A (p.Ala1951Thr)
c.5746G>A (p.Ala1916Thr)
c.5743G>A (p.Ala1915Thr)
n.5875G>A
n.5790G>A
n.5861G>A
11g.77207316G>CCA381953930MYO7Ac.5770G>C (p.Ala1924Pro)
c.3597G>C
c.5623G>C (p.Ala1875Pro)
c.3196G>C (p.Ala1066Pro)
c.5656G>C (p.Ala1886Pro)
n.3306G>C
n.684G>C
c.5653G>C (p.Ala1885Pro)
c.5761G>C (p.Ala1921Pro)
c.5764G>C (p.Ala1922Pro)
c.5737G>C (p.Ala1913Pro)
c.5674G>C (p.Ala1892Pro)
c.5545G>C (p.Ala1849Pro)
c.5533G>C (p.Ala1845Pro)
c.5506G>C (p.Ala1836Pro)
n.6090G>C
c.5860G>C (p.Ala1954Pro)
c.5854G>C (p.Ala1952Pro)
c.5851G>C (p.Ala1951Pro)
c.5746G>C (p.Ala1916Pro)
c.5743G>C (p.Ala1915Pro)
n.5875G>C
n.5790G>C
n.5861G>C
 ClinVar dbSNP
11g.77207316G=CA1984127853MYO7Ac.5770G= (p.Ala1924=)
c.3597G=
c.5623G= (p.Ala1875=)
c.3196G= (p.Ala1066=)
c.5656G= (p.Ala1886=)
n.3306G=
n.684G=
c.5653G= (p.Ala1885=)
c.5761G= (p.Ala1921=)
c.5764G= (p.Ala1922=)
c.5737G= (p.Ala1913=)
c.5674G= (p.Ala1892=)
c.5545G= (p.Ala1849=)
c.5533G= (p.Ala1845=)
c.5506G= (p.Ala1836=)
n.6090G=
c.5860G= (p.Ala1954=)
c.5854G= (p.Ala1952=)
c.5851G= (p.Ala1951=)
c.5746G= (p.Ala1916=)
c.5743G= (p.Ala1915=)
n.5875G=
n.5790G=
n.5861G=
11g.77207316G>TCA381953926MYO7Ac.5770G>T (p.Ala1924Ser)
c.3597G>T
c.5623G>T (p.Ala1875Ser)
c.3196G>T (p.Ala1066Ser)
c.5656G>T (p.Ala1886Ser)
n.3306G>T
n.684G>T
c.5653G>T (p.Ala1885Ser)
c.5761G>T (p.Ala1921Ser)
c.5764G>T (p.Ala1922Ser)
c.5737G>T (p.Ala1913Ser)
c.5674G>T (p.Ala1892Ser)
c.5545G>T (p.Ala1849Ser)
c.5533G>T (p.Ala1845Ser)
c.5506G>T (p.Ala1836Ser)
n.6090G>T
c.5860G>T (p.Ala1954Ser)
c.5854G>T (p.Ala1952Ser)
c.5851G>T (p.Ala1951Ser)
c.5746G>T (p.Ala1916Ser)
c.5743G>T (p.Ala1915Ser)
n.5875G>T
n.5790G>T
n.5861G>T
11g.77207317C>ACA381953932MYO7Ac.5771C>A (p.Ala1924Asp)
c.3598C>A
c.5624C>A (p.Ala1875Asp)
c.3197C>A (p.Ala1066Asp)
c.5657C>A (p.Ala1886Asp)
n.3307C>A
n.685C>A
c.5654C>A (p.Ala1885Asp)
c.5762C>A (p.Ala1921Asp)
c.5765C>A (p.Ala1922Asp)
c.5738C>A (p.Ala1913Asp)
c.5675C>A (p.Ala1892Asp)
c.5546C>A (p.Ala1849Asp)
c.5534C>A (p.Ala1845Asp)
c.5507C>A (p.Ala1836Asp)
n.6091C>A
c.5861C>A (p.Ala1954Asp)
c.5855C>A (p.Ala1952Asp)
c.5852C>A (p.Ala1951Asp)
c.5747C>A (p.Ala1916Asp)
c.5744C>A (p.Ala1915Asp)
n.5876C>A
n.5791C>A
n.5862C>A
 ClinVar dbSNP gnomAD v4
11g.77207317C=CA1984127854MYO7Ac.5771C= (p.Ala1924=)
c.3598C=
c.5624C= (p.Ala1875=)
c.3197C= (p.Ala1066=)
c.5657C= (p.Ala1886=)
n.3307C=
n.685C=
c.5654C= (p.Ala1885=)
c.5762C= (p.Ala1921=)
c.5765C= (p.Ala1922=)
c.5738C= (p.Ala1913=)
c.5675C= (p.Ala1892=)
c.5546C= (p.Ala1849=)
c.5534C= (p.Ala1845=)
c.5507C= (p.Ala1836=)
n.6091C=
c.5861C= (p.Ala1954=)
c.5855C= (p.Ala1952=)
c.5852C= (p.Ala1951=)
c.5747C= (p.Ala1916=)
c.5744C= (p.Ala1915=)
n.5876C=
n.5791C=
n.5862C=
11g.77207317C>GCA381953934MYO7Ac.5771C>G (p.Ala1924Gly)
c.3598C>G
c.5624C>G (p.Ala1875Gly)
c.3197C>G (p.Ala1066Gly)
c.5657C>G (p.Ala1886Gly)
n.3307C>G
n.685C>G
c.5654C>G (p.Ala1885Gly)
c.5762C>G (p.Ala1921Gly)
c.5765C>G (p.Ala1922Gly)
c.5738C>G (p.Ala1913Gly)
c.5675C>G (p.Ala1892Gly)
c.5546C>G (p.Ala1849Gly)
c.5534C>G (p.Ala1845Gly)
c.5507C>G (p.Ala1836Gly)
n.6091C>G
c.5861C>G (p.Ala1954Gly)
c.5855C>G (p.Ala1952Gly)
c.5852C>G (p.Ala1951Gly)
c.5747C>G (p.Ala1916Gly)
c.5744C>G (p.Ala1915Gly)
n.5876C>G
n.5791C>G
n.5862C>G
11g.77207317C>TCA381953936MYO7Ac.5771C>T (p.Ala1924Val)
c.3598C>T
c.5624C>T (p.Ala1875Val)
c.3197C>T (p.Ala1066Val)
c.5657C>T (p.Ala1886Val)
n.3307C>T
n.685C>T
c.5654C>T (p.Ala1885Val)
c.5762C>T (p.Ala1921Val)
c.5765C>T (p.Ala1922Val)
c.5738C>T (p.Ala1913Val)
c.5675C>T (p.Ala1892Val)
c.5546C>T (p.Ala1849Val)
c.5534C>T (p.Ala1845Val)
c.5507C>T (p.Ala1836Val)
n.6091C>T
c.5861C>T (p.Ala1954Val)
c.5855C>T (p.Ala1952Val)
c.5852C>T (p.Ala1951Val)
c.5747C>T (p.Ala1916Val)
c.5744C>T (p.Ala1915Val)
n.5876C>T
n.5791C>T
n.5862C>T
 gnomAD v4
11g.77207318C>ACA6198830MYO7Ac.5772C>A (p.Ala1924=)
c.3599C>A
c.5625C>A (p.Ala1875=)
c.3198C>A (p.Ala1066=)
c.5658C>A (p.Ala1886=)
n.3308C>A
n.686C>A
c.5655C>A (p.Ala1885=)
c.5763C>A (p.Ala1921=)
c.5766C>A (p.Ala1922=)
c.5739C>A (p.Ala1913=)
c.5676C>A (p.Ala1892=)
c.5547C>A (p.Ala1849=)
c.5535C>A (p.Ala1845=)
c.5508C>A (p.Ala1836=)
n.6092C>A
c.5862C>A (p.Ala1954=)
c.5856C>A (p.Ala1952=)
c.5853C>A (p.Ala1951=)
c.5748C>A (p.Ala1916=)
c.5745C>A (p.Ala1915=)
n.5877C>A
n.5792C>A
n.5863C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77207318C=CA1984127855MYO7Ac.5772C= (p.Ala1924=)
c.3599C=
c.5625C= (p.Ala1875=)
c.3198C= (p.Ala1066=)
c.5658C= (p.Ala1886=)
n.3308C=
n.686C=
c.5655C= (p.Ala1885=)
c.5763C= (p.Ala1921=)
c.5766C= (p.Ala1922=)
c.5739C= (p.Ala1913=)
c.5676C= (p.Ala1892=)
c.5547C= (p.Ala1849=)
c.5535C= (p.Ala1845=)
c.5508C= (p.Ala1836=)
n.6092C=
c.5862C= (p.Ala1954=)
c.5856C= (p.Ala1952=)
c.5853C= (p.Ala1951=)
c.5748C= (p.Ala1916=)
c.5745C= (p.Ala1915=)
n.5877C=
n.5792C=
n.5863C=
11g.77207318C>GCA475797301MYO7Ac.5772C>G (p.Ala1924=)
c.3599C>G
c.5625C>G (p.Ala1875=)
c.3198C>G (p.Ala1066=)
c.5658C>G (p.Ala1886=)
n.3308C>G
n.686C>G
c.5655C>G (p.Ala1885=)
c.5763C>G (p.Ala1921=)
c.5766C>G (p.Ala1922=)
c.5739C>G (p.Ala1913=)
c.5676C>G (p.Ala1892=)
c.5547C>G (p.Ala1849=)
c.5535C>G (p.Ala1845=)
c.5508C>G (p.Ala1836=)
n.6092C>G
c.5862C>G (p.Ala1954=)
c.5856C>G (p.Ala1952=)
c.5853C>G (p.Ala1951=)
c.5748C>G (p.Ala1916=)
c.5745C>G (p.Ala1915=)
n.5877C>G
n.5792C>G
n.5863C>G
 gnomAD v4
11g.77207318C>TCA475797300MYO7Ac.5772C>T (p.Ala1924=)
c.3599C>T
c.5625C>T (p.Ala1875=)
c.3198C>T (p.Ala1066=)
c.5658C>T (p.Ala1886=)
n.3308C>T
n.686C>T
c.5655C>T (p.Ala1885=)
c.5763C>T (p.Ala1921=)
c.5766C>T (p.Ala1922=)
c.5739C>T (p.Ala1913=)
c.5676C>T (p.Ala1892=)
c.5547C>T (p.Ala1849=)
c.5535C>T (p.Ala1845=)
c.5508C>T (p.Ala1836=)
n.6092C>T
c.5862C>T (p.Ala1954=)
c.5856C>T (p.Ala1952=)
c.5853C>T (p.Ala1951=)
c.5748C>T (p.Ala1916=)
c.5745C>T (p.Ala1915=)
n.5877C>T
n.5792C>T
n.5863C>T
11g.77207319A>CCA381953940MYO7Ac.5773A>C (p.Lys1925Gln)
c.3600A>C
c.5626A>C (p.Lys1876Gln)
c.3199A>C (p.Lys1067Gln)
c.5659A>C (p.Lys1887Gln)
n.3309A>C
n.687A>C
c.5656A>C (p.Lys1886Gln)
c.5764A>C (p.Lys1922Gln)
c.5767A>C (p.Lys1923Gln)
c.5740A>C (p.Lys1914Gln)
c.5677A>C (p.Lys1893Gln)
c.5548A>C (p.Lys1850Gln)
c.5536A>C (p.Lys1846Gln)
c.5509A>C (p.Lys1837Gln)
n.6093A>C
c.5863A>C (p.Lys1955Gln)
c.5857A>C (p.Lys1953Gln)
c.5854A>C (p.Lys1952Gln)
c.5749A>C (p.Lys1917Gln)
c.5746A>C (p.Lys1916Gln)
n.5878A>C
n.5793A>C
n.5864A>C
11g.77207319A>GCA381953941MYO7Ac.5773A>G (p.Lys1925Glu)
c.3600A>G
c.5626A>G (p.Lys1876Glu)
c.3199A>G (p.Lys1067Glu)
c.5659A>G (p.Lys1887Glu)
n.3309A>G
n.687A>G
c.5656A>G (p.Lys1886Glu)
c.5764A>G (p.Lys1922Glu)
c.5767A>G (p.Lys1923Glu)
c.5740A>G (p.Lys1914Glu)
c.5677A>G (p.Lys1893Glu)
c.5548A>G (p.Lys1850Glu)
c.5536A>G (p.Lys1846Glu)
c.5509A>G (p.Lys1837Glu)
n.6093A>G
c.5863A>G (p.Lys1955Glu)
c.5857A>G (p.Lys1953Glu)
c.5854A>G (p.Lys1952Glu)
c.5749A>G (p.Lys1917Glu)
c.5746A>G (p.Lys1916Glu)
n.5878A>G
n.5793A>G
n.5864A>G
11g.77207319A>TCA381953943MYO7Ac.5773A>T (p.Lys1925Ter)
c.3600A>T
c.5626A>T (p.Lys1876Ter)
c.3199A>T (p.Lys1067Ter)
c.5659A>T (p.Lys1887Ter)
n.3309A>T
n.687A>T
c.5656A>T (p.Lys1886Ter)
c.5764A>T (p.Lys1922Ter)
c.5767A>T (p.Lys1923Ter)
c.5740A>T (p.Lys1914Ter)
c.5677A>T (p.Lys1893Ter)
c.5548A>T (p.Lys1850Ter)
c.5536A>T (p.Lys1846Ter)
c.5509A>T (p.Lys1837Ter)
n.6093A>T
c.5863A>T (p.Lys1955Ter)
c.5857A>T (p.Lys1953Ter)
c.5854A>T (p.Lys1952Ter)
c.5749A>T (p.Lys1917Ter)
c.5746A>T (p.Lys1916Ter)
n.5878A>T
n.5793A>T
n.5864A>T
11g.77207320A>CCA381953944MYO7Ac.5774A>C (p.Lys1925Thr)
c.3601A>C
c.5627A>C (p.Lys1876Thr)
c.3200A>C (p.Lys1067Thr)
c.5660A>C (p.Lys1887Thr)
n.3310A>C
n.688A>C
c.5657A>C (p.Lys1886Thr)
c.5765A>C (p.Lys1922Thr)
c.5768A>C (p.Lys1923Thr)
c.5741A>C (p.Lys1914Thr)
c.5678A>C (p.Lys1893Thr)
c.5549A>C (p.Lys1850Thr)
c.5537A>C (p.Lys1846Thr)
c.5510A>C (p.Lys1837Thr)
n.6094A>C
c.5864A>C (p.Lys1955Thr)
c.5858A>C (p.Lys1953Thr)
c.5855A>C (p.Lys1952Thr)
c.5750A>C (p.Lys1917Thr)
c.5747A>C (p.Lys1916Thr)
n.5879A>C
n.5794A>C
n.5865A>C
11g.77207320A>GCA381953946MYO7Ac.5774A>G (p.Lys1925Arg)
c.3601A>G
c.5627A>G (p.Lys1876Arg)
c.3200A>G (p.Lys1067Arg)
c.5660A>G (p.Lys1887Arg)
n.3310A>G
n.688A>G
c.5657A>G (p.Lys1886Arg)
c.5765A>G (p.Lys1922Arg)
c.5768A>G (p.Lys1923Arg)
c.5741A>G (p.Lys1914Arg)
c.5678A>G (p.Lys1893Arg)
c.5549A>G (p.Lys1850Arg)
c.5537A>G (p.Lys1846Arg)
c.5510A>G (p.Lys1837Arg)
n.6094A>G
c.5864A>G (p.Lys1955Arg)
c.5858A>G (p.Lys1953Arg)
c.5855A>G (p.Lys1952Arg)
c.5750A>G (p.Lys1917Arg)
c.5747A>G (p.Lys1916Arg)
n.5879A>G
n.5794A>G
n.5865A>G
11g.77207320A>TCA381953948MYO7Ac.5774A>T (p.Lys1925Met)
c.3601A>T
c.5627A>T (p.Lys1876Met)
c.3200A>T (p.Lys1067Met)
c.5660A>T (p.Lys1887Met)
n.3310A>T
n.688A>T
c.5657A>T (p.Lys1886Met)
c.5765A>T (p.Lys1922Met)
c.5768A>T (p.Lys1923Met)
c.5741A>T (p.Lys1914Met)
c.5678A>T (p.Lys1893Met)
c.5549A>T (p.Lys1850Met)
c.5537A>T (p.Lys1846Met)
c.5510A>T (p.Lys1837Met)
n.6094A>T
c.5864A>T (p.Lys1955Met)
c.5858A>T (p.Lys1953Met)
c.5855A>T (p.Lys1952Met)
c.5750A>T (p.Lys1917Met)
c.5747A>T (p.Lys1916Met)
n.5879A>T
n.5794A>T
n.5865A>T
11g.77207321G>ACA6198831MYO7Ac.5775G>A (p.Lys1925=)
c.3602G>A
c.5628G>A (p.Lys1876=)
c.3201G>A (p.Lys1067=)
c.5661G>A (p.Lys1887=)
n.3311G>A
n.689G>A
c.5658G>A (p.Lys1886=)
c.5766G>A (p.Lys1922=)
c.5769G>A (p.Lys1923=)
c.5742G>A (p.Lys1914=)
c.5679G>A (p.Lys1893=)
c.5550G>A (p.Lys1850=)
c.5538G>A (p.Lys1846=)
c.5511G>A (p.Lys1837=)
n.6095G>A
c.5865G>A (p.Lys1955=)
c.5859G>A (p.Lys1953=)
c.5856G>A (p.Lys1952=)
c.5751G>A (p.Lys1917=)
c.5748G>A (p.Lys1916=)
n.5880G>A
n.5795G>A
n.5866G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77207321G>CCA381953951MYO7Ac.5775G>C (p.Lys1925Asn)
c.3602G>C
c.5628G>C (p.Lys1876Asn)
c.3201G>C (p.Lys1067Asn)
c.5661G>C (p.Lys1887Asn)
n.3311G>C
n.689G>C
c.5658G>C (p.Lys1886Asn)
c.5766G>C (p.Lys1922Asn)
c.5769G>C (p.Lys1923Asn)
c.5742G>C (p.Lys1914Asn)
c.5679G>C (p.Lys1893Asn)
c.5550G>C (p.Lys1850Asn)
c.5538G>C (p.Lys1846Asn)
c.5511G>C (p.Lys1837Asn)
n.6095G>C
c.5865G>C (p.Lys1955Asn)
c.5859G>C (p.Lys1953Asn)
c.5856G>C (p.Lys1952Asn)
c.5751G>C (p.Lys1917Asn)
c.5748G>C (p.Lys1916Asn)
n.5880G>C
n.5795G>C
n.5866G>C
11g.77207321G=CA1984127856MYO7Ac.5775G= (p.Lys1925=)
c.3602G=
c.5628G= (p.Lys1876=)
c.3201G= (p.Lys1067=)
c.5661G= (p.Lys1887=)
n.3311G=
n.689G=
c.5658G= (p.Lys1886=)
c.5766G= (p.Lys1922=)
c.5769G= (p.Lys1923=)
c.5742G= (p.Lys1914=)
c.5679G= (p.Lys1893=)
c.5550G= (p.Lys1850=)
c.5538G= (p.Lys1846=)
c.5511G= (p.Lys1837=)
n.6095G=
c.5865G= (p.Lys1955=)
c.5859G= (p.Lys1953=)
c.5856G= (p.Lys1952=)
c.5751G= (p.Lys1917=)
c.5748G= (p.Lys1916=)
n.5880G=
n.5795G=
n.5866G=
11g.77207321G>TCA381953953MYO7Ac.5775G>T (p.Lys1925Asn)
c.3602G>T
c.5628G>T (p.Lys1876Asn)
c.3201G>T (p.Lys1067Asn)
c.5661G>T (p.Lys1887Asn)
n.3311G>T
n.689G>T
c.5658G>T (p.Lys1886Asn)
c.5766G>T (p.Lys1922Asn)
c.5769G>T (p.Lys1923Asn)
c.5742G>T (p.Lys1914Asn)
c.5679G>T (p.Lys1893Asn)
c.5550G>T (p.Lys1850Asn)
c.5538G>T (p.Lys1846Asn)
c.5511G>T (p.Lys1837Asn)
n.6095G>T
c.5865G>T (p.Lys1955Asn)
c.5859G>T (p.Lys1953Asn)
c.5856G>T (p.Lys1952Asn)
c.5751G>T (p.Lys1917Asn)
c.5748G>T (p.Lys1916Asn)
n.5880G>T
n.5795G>T
n.5866G>T
 gnomAD v4
11g.77207322delCA2615268356MYO7Ac.5776del (p.Asp1926ThrfsTer?)
c.3603del
c.5629del (p.Asp1877ThrfsTer?)
c.3202del (p.Asp1068ThrfsTer?)
c.5662del (p.Asp1888ThrfsTer?)
n.3312del
n.690del
c.5659del (p.Asp1887ThrfsTer?)
c.5767del (p.Asp1923ThrfsTer?)
c.5770del (p.Asp1924ThrfsTer?)
c.5743del (p.Asp1915ThrfsTer?)
c.5680del (p.Asp1894ThrfsTer?)
c.5551del (p.Asp1851ThrfsTer?)
c.5539del (p.Asp1847ThrfsTer?)
c.5512del (p.Asp1838ThrfsTer?)
n.6096del
c.5866del (p.Asp1956ThrfsTer?)
c.5860del (p.Asp1954ThrfsTer?)
c.5857del (p.Asp1953ThrfsTer?)
c.5752del (p.Asp1918ThrfsTer?)
c.5749del (p.Asp1917ThrfsTer?)
n.5881del
n.5796del
n.5867del
 gnomAD v4
11g.77207322G>ACA381953958MYO7Ac.5776G>A (p.Asp1926Asn)
c.3603G>A
c.5629G>A (p.Asp1877Asn)
c.3202G>A (p.Asp1068Asn)
c.5662G>A (p.Asp1888Asn)
n.3312G>A
n.690G>A
c.5659G>A (p.Asp1887Asn)
c.5767G>A (p.Asp1923Asn)
c.5770G>A (p.Asp1924Asn)
c.5743G>A (p.Asp1915Asn)
c.5680G>A (p.Asp1894Asn)
c.5551G>A (p.Asp1851Asn)
c.5539G>A (p.Asp1847Asn)
c.5512G>A (p.Asp1838Asn)
n.6096G>A
c.5866G>A (p.Asp1956Asn)
c.5860G>A (p.Asp1954Asn)
c.5857G>A (p.Asp1953Asn)
c.5752G>A (p.Asp1918Asn)
c.5749G>A (p.Asp1917Asn)
n.5881G>A
n.5796G>A
n.5867G>A
11g.77207322G>CCA381953956MYO7Ac.5776G>C (p.Asp1926His)
c.3603G>C
c.5629G>C (p.Asp1877His)
c.3202G>C (p.Asp1068His)
c.5662G>C (p.Asp1888His)
n.3312G>C
n.690G>C
c.5659G>C (p.Asp1887His)
c.5767G>C (p.Asp1923His)
c.5770G>C (p.Asp1924His)
c.5743G>C (p.Asp1915His)
c.5680G>C (p.Asp1894His)
c.5551G>C (p.Asp1851His)
c.5539G>C (p.Asp1847His)
c.5512G>C (p.Asp1838His)
n.6096G>C
c.5866G>C (p.Asp1956His)
c.5860G>C (p.Asp1954His)
c.5857G>C (p.Asp1953His)
c.5752G>C (p.Asp1918His)
c.5749G>C (p.Asp1917His)
n.5881G>C
n.5796G>C
n.5867G>C
11g.77207322G>TCA381953955MYO7Ac.5776G>T (p.Asp1926Tyr)
c.3603G>T
c.5629G>T (p.Asp1877Tyr)
c.3202G>T (p.Asp1068Tyr)
c.5662G>T (p.Asp1888Tyr)
n.3312G>T
n.690G>T
c.5659G>T (p.Asp1887Tyr)
c.5767G>T (p.Asp1923Tyr)
c.5770G>T (p.Asp1924Tyr)
c.5743G>T (p.Asp1915Tyr)
c.5680G>T (p.Asp1894Tyr)
c.5551G>T (p.Asp1851Tyr)
c.5539G>T (p.Asp1847Tyr)
c.5512G>T (p.Asp1838Tyr)
n.6096G>T
c.5866G>T (p.Asp1956Tyr)
c.5860G>T (p.Asp1954Tyr)
c.5857G>T (p.Asp1953Tyr)
c.5752G>T (p.Asp1918Tyr)
c.5749G>T (p.Asp1917Tyr)
n.5881G>T
n.5796G>T
n.5867G>T
11g.77207323A>CCA381953960MYO7Ac.5777A>C (p.Asp1926Ala)
c.3604A>C
c.5630A>C (p.Asp1877Ala)
c.3203A>C (p.Asp1068Ala)
c.5663A>C (p.Asp1888Ala)
n.3313A>C
n.691A>C
c.5660A>C (p.Asp1887Ala)
c.5768A>C (p.Asp1923Ala)
c.5771A>C (p.Asp1924Ala)
c.5744A>C (p.Asp1915Ala)
c.5681A>C (p.Asp1894Ala)
c.5552A>C (p.Asp1851Ala)
c.5540A>C (p.Asp1847Ala)
c.5513A>C (p.Asp1838Ala)
n.6097A>C
c.5867A>C (p.Asp1956Ala)
c.5861A>C (p.Asp1954Ala)
c.5858A>C (p.Asp1953Ala)
c.5753A>C (p.Asp1918Ala)
c.5750A>C (p.Asp1917Ala)
n.5882A>C
n.5797A>C
n.5868A>C
11g.77207323A>GCA381953962MYO7Ac.5777A>G (p.Asp1926Gly)
c.3604A>G
c.5630A>G (p.Asp1877Gly)
c.3203A>G (p.Asp1068Gly)
c.5663A>G (p.Asp1888Gly)
n.3313A>G
n.691A>G
c.5660A>G (p.Asp1887Gly)
c.5768A>G (p.Asp1923Gly)
c.5771A>G (p.Asp1924Gly)
c.5744A>G (p.Asp1915Gly)
c.5681A>G (p.Asp1894Gly)
c.5552A>G (p.Asp1851Gly)
c.5540A>G (p.Asp1847Gly)
c.5513A>G (p.Asp1838Gly)
n.6097A>G
c.5867A>G (p.Asp1956Gly)
c.5861A>G (p.Asp1954Gly)
c.5858A>G (p.Asp1953Gly)
c.5753A>G (p.Asp1918Gly)
c.5750A>G (p.Asp1917Gly)
n.5882A>G
n.5797A>G
n.5868A>G
11g.77207323A>TCA381953964MYO7Ac.5777A>T (p.Asp1926Val)
c.3604A>T
c.5630A>T (p.Asp1877Val)
c.3203A>T (p.Asp1068Val)
c.5663A>T (p.Asp1888Val)
n.3313A>T
n.691A>T
c.5660A>T (p.Asp1887Val)
c.5768A>T (p.Asp1923Val)
c.5771A>T (p.Asp1924Val)
c.5744A>T (p.Asp1915Val)
c.5681A>T (p.Asp1894Val)
c.5552A>T (p.Asp1851Val)
c.5540A>T (p.Asp1847Val)
c.5513A>T (p.Asp1838Val)
n.6097A>T
c.5867A>T (p.Asp1956Val)
c.5861A>T (p.Asp1954Val)
c.5858A>T (p.Asp1953Val)
c.5753A>T (p.Asp1918Val)
c.5750A>T (p.Asp1917Val)
n.5882A>T
n.5797A>T
n.5868A>T
11g.77207324C>ACA381953966MYO7Ac.5778C>A (p.Asp1926Glu)
c.3605C>A
c.5631C>A (p.Asp1877Glu)
c.3204C>A (p.Asp1068Glu)
c.5664C>A (p.Asp1888Glu)
n.3314C>A
n.692C>A
c.5661C>A (p.Asp1887Glu)
c.5769C>A (p.Asp1923Glu)
c.5772C>A (p.Asp1924Glu)
c.5745C>A (p.Asp1915Glu)
c.5682C>A (p.Asp1894Glu)
c.5553C>A (p.Asp1851Glu)
c.5541C>A (p.Asp1847Glu)
c.5514C>A (p.Asp1838Glu)
n.6098C>A
c.5868C>A (p.Asp1956Glu)
c.5862C>A (p.Asp1954Glu)
c.5859C>A (p.Asp1953Glu)
c.5754C>A (p.Asp1918Glu)
c.5751C>A (p.Asp1917Glu)
n.5883C>A
n.5798C>A
n.5869C>A
11g.77207324C=CA1984127857MYO7Ac.5778C= (p.Asp1926=)
c.3605C=
c.5631C= (p.Asp1877=)
c.3204C= (p.Asp1068=)
c.5664C= (p.Asp1888=)
n.3314C=
n.692C=
c.5661C= (p.Asp1887=)
c.5769C= (p.Asp1923=)
c.5772C= (p.Asp1924=)
c.5745C= (p.Asp1915=)
c.5682C= (p.Asp1894=)
c.5553C= (p.Asp1851=)
c.5541C= (p.Asp1847=)
c.5514C= (p.Asp1838=)
n.6098C=
c.5868C= (p.Asp1956=)
c.5862C= (p.Asp1954=)
c.5859C= (p.Asp1953=)
c.5754C= (p.Asp1918=)
c.5751C= (p.Asp1917=)
n.5883C=
n.5798C=
n.5869C=
11g.77207324C>GCA381953967MYO7Ac.5778C>G (p.Asp1926Glu)
c.3605C>G
c.5631C>G (p.Asp1877Glu)
c.3204C>G (p.Asp1068Glu)
c.5664C>G (p.Asp1888Glu)
n.3314C>G
n.692C>G
c.5661C>G (p.Asp1887Glu)
c.5769C>G (p.Asp1923Glu)
c.5772C>G (p.Asp1924Glu)
c.5745C>G (p.Asp1915Glu)
c.5682C>G (p.Asp1894Glu)
c.5553C>G (p.Asp1851Glu)
c.5541C>G (p.Asp1847Glu)
c.5514C>G (p.Asp1838Glu)
n.6098C>G
c.5868C>G (p.Asp1956Glu)
c.5862C>G (p.Asp1954Glu)
c.5859C>G (p.Asp1953Glu)
c.5754C>G (p.Asp1918Glu)
c.5751C>G (p.Asp1917Glu)
n.5883C>G
n.5798C>G
n.5869C>G
11g.77207324C>TCA224854978MYO7Ac.5778C>T (p.Asp1926=)
c.3605C>T
c.5631C>T (p.Asp1877=)
c.3204C>T (p.Asp1068=)
c.5664C>T (p.Asp1888=)
n.3314C>T
n.692C>T
c.5661C>T (p.Asp1887=)
c.5769C>T (p.Asp1923=)
c.5772C>T (p.Asp1924=)
c.5745C>T (p.Asp1915=)
c.5682C>T (p.Asp1894=)
c.5553C>T (p.Asp1851=)
c.5541C>T (p.Asp1847=)
c.5514C>T (p.Asp1838=)
n.6098C>T
c.5868C>T (p.Asp1956=)
c.5862C>T (p.Asp1954=)
c.5859C>T (p.Asp1953=)
c.5754C>T (p.Asp1918=)
c.5751C>T (p.Asp1917=)
n.5883C>T
n.5798C>T
n.5869C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.77207325T>ACA381953969MYO7Ac.5779T>A (p.Phe1927Ile)
c.3606T>A
c.5632T>A (p.Phe1878Ile)
c.3205T>A (p.Phe1069Ile)
c.5665T>A (p.Phe1889Ile)
n.3315T>A
n.693T>A
c.5662T>A (p.Phe1888Ile)
c.5770T>A (p.Phe1924Ile)
c.5773T>A (p.Phe1925Ile)
c.5746T>A (p.Phe1916Ile)
c.5683T>A (p.Phe1895Ile)
c.5554T>A (p.Phe1852Ile)
c.5542T>A (p.Phe1848Ile)
c.5515T>A (p.Phe1839Ile)
n.6099T>A
c.5869T>A (p.Phe1957Ile)
c.5863T>A (p.Phe1955Ile)
c.5860T>A (p.Phe1954Ile)
c.5755T>A (p.Phe1919Ile)
c.5752T>A (p.Phe1918Ile)
n.5884T>A
n.5799T>A
n.5870T>A
11g.77207325T>CCA381953971MYO7Ac.5779T>C (p.Phe1927Leu)
c.3606T>C
c.5632T>C (p.Phe1878Leu)
c.3205T>C (p.Phe1069Leu)
c.5665T>C (p.Phe1889Leu)
n.3315T>C
n.693T>C
c.5662T>C (p.Phe1888Leu)
c.5770T>C (p.Phe1924Leu)
c.5773T>C (p.Phe1925Leu)
c.5746T>C (p.Phe1916Leu)
c.5683T>C (p.Phe1895Leu)
c.5554T>C (p.Phe1852Leu)
c.5542T>C (p.Phe1848Leu)
c.5515T>C (p.Phe1839Leu)
n.6099T>C
c.5869T>C (p.Phe1957Leu)
c.5863T>C (p.Phe1955Leu)
c.5860T>C (p.Phe1954Leu)
c.5755T>C (p.Phe1919Leu)
c.5752T>C (p.Phe1918Leu)
n.5884T>C
n.5799T>C
n.5870T>C
11g.77207325T>GCA381953973MYO7Ac.5779T>G (p.Phe1927Val)
c.3606T>G
c.5632T>G (p.Phe1878Val)
c.3205T>G (p.Phe1069Val)
c.5665T>G (p.Phe1889Val)
n.3315T>G
n.693T>G
c.5662T>G (p.Phe1888Val)
c.5770T>G (p.Phe1924Val)
c.5773T>G (p.Phe1925Val)
c.5746T>G (p.Phe1916Val)
c.5683T>G (p.Phe1895Val)
c.5554T>G (p.Phe1852Val)
c.5542T>G (p.Phe1848Val)
c.5515T>G (p.Phe1839Val)
n.6099T>G
c.5869T>G (p.Phe1957Val)
c.5863T>G (p.Phe1955Val)
c.5860T>G (p.Phe1954Val)
c.5755T>G (p.Phe1919Val)
c.5752T>G (p.Phe1918Val)
n.5884T>G
n.5799T>G
n.5870T>G
11g.77207326T>ACA381953975MYO7Ac.5780T>A (p.Phe1927Tyr)
c.3607T>A
c.5633T>A (p.Phe1878Tyr)
c.3206T>A (p.Phe1069Tyr)
c.5666T>A (p.Phe1889Tyr)
n.3316T>A
n.694T>A
c.5663T>A (p.Phe1888Tyr)
c.5771T>A (p.Phe1924Tyr)
c.5774T>A (p.Phe1925Tyr)
c.5747T>A (p.Phe1916Tyr)
c.5684T>A (p.Phe1895Tyr)
c.5555T>A (p.Phe1852Tyr)
c.5543T>A (p.Phe1848Tyr)
c.5516T>A (p.Phe1839Tyr)
n.6100T>A
c.5870T>A (p.Phe1957Tyr)
c.5864T>A (p.Phe1955Tyr)
c.5861T>A (p.Phe1954Tyr)
c.5756T>A (p.Phe1919Tyr)
c.5753T>A (p.Phe1918Tyr)
n.5885T>A
n.5800T>A
n.5871T>A
11g.77207326T>CCA381953976MYO7Ac.5780T>C (p.Phe1927Ser)
c.3607T>C
c.5633T>C (p.Phe1878Ser)
c.3206T>C (p.Phe1069Ser)
c.5666T>C (p.Phe1889Ser)
n.3316T>C
n.694T>C
c.5663T>C (p.Phe1888Ser)
c.5771T>C (p.Phe1924Ser)
c.5774T>C (p.Phe1925Ser)
c.5747T>C (p.Phe1916Ser)
c.5684T>C (p.Phe1895Ser)
c.5555T>C (p.Phe1852Ser)
c.5543T>C (p.Phe1848Ser)
c.5516T>C (p.Phe1839Ser)
n.6100T>C
c.5870T>C (p.Phe1957Ser)
c.5864T>C (p.Phe1955Ser)
c.5861T>C (p.Phe1954Ser)
c.5756T>C (p.Phe1919Ser)
c.5753T>C (p.Phe1918Ser)
n.5885T>C
n.5800T>C
n.5871T>C
11g.77207326T>GCA381953978MYO7Ac.5780T>G (p.Phe1927Cys)
c.3607T>G
c.5633T>G (p.Phe1878Cys)
c.3206T>G (p.Phe1069Cys)
c.5666T>G (p.Phe1889Cys)
n.3316T>G
n.694T>G
c.5663T>G (p.Phe1888Cys)
c.5771T>G (p.Phe1924Cys)
c.5774T>G (p.Phe1925Cys)
c.5747T>G (p.Phe1916Cys)
c.5684T>G (p.Phe1895Cys)
c.5555T>G (p.Phe1852Cys)
c.5543T>G (p.Phe1848Cys)
c.5516T>G (p.Phe1839Cys)
n.6100T>G
c.5870T>G (p.Phe1957Cys)
c.5864T>G (p.Phe1955Cys)
c.5861T>G (p.Phe1954Cys)
c.5756T>G (p.Phe1919Cys)
c.5753T>G (p.Phe1918Cys)
n.5885T>G
n.5800T>G
n.5871T>G
11g.77207327C>ACA381953980MYO7Ac.5781C>A (p.Phe1927Leu)
c.3608C>A
c.5634C>A (p.Phe1878Leu)
c.3207C>A (p.Phe1069Leu)
c.5667C>A (p.Phe1889Leu)
n.3317C>A
n.695C>A
c.5664C>A (p.Phe1888Leu)
c.5772C>A (p.Phe1924Leu)
c.5775C>A (p.Phe1925Leu)
c.5748C>A (p.Phe1916Leu)
c.5685C>A (p.Phe1895Leu)
c.5556C>A (p.Phe1852Leu)
c.5544C>A (p.Phe1848Leu)
c.5517C>A (p.Phe1839Leu)
n.6101C>A
c.5871C>A (p.Phe1957Leu)
c.5865C>A (p.Phe1955Leu)
c.5862C>A (p.Phe1954Leu)
c.5757C>A (p.Phe1919Leu)
c.5754C>A (p.Phe1918Leu)
n.5886C>A
n.5801C>A
n.5872C>A
11g.77207327C=CA1984127858MYO7Ac.5781C= (p.Phe1927=)
c.3608C=
c.5634C= (p.Phe1878=)
c.3207C= (p.Phe1069=)
c.5667C= (p.Phe1889=)
n.3317C=
n.695C=
c.5664C= (p.Phe1888=)
c.5772C= (p.Phe1924=)
c.5775C= (p.Phe1925=)
c.5748C= (p.Phe1916=)
c.5685C= (p.Phe1895=)
c.5556C= (p.Phe1852=)
c.5544C= (p.Phe1848=)
c.5517C= (p.Phe1839=)
n.6101C=
c.5871C= (p.Phe1957=)
c.5865C= (p.Phe1955=)
c.5862C= (p.Phe1954=)
c.5757C= (p.Phe1919=)
c.5754C= (p.Phe1918=)
n.5886C=
n.5801C=
n.5872C=
11g.77207327C>GCA381953982MYO7Ac.5781C>G (p.Phe1927Leu)
c.3608C>G
c.5634C>G (p.Phe1878Leu)
c.3207C>G (p.Phe1069Leu)
c.5667C>G (p.Phe1889Leu)
n.3317C>G
n.695C>G
c.5664C>G (p.Phe1888Leu)
c.5772C>G (p.Phe1924Leu)
c.5775C>G (p.Phe1925Leu)
c.5748C>G (p.Phe1916Leu)
c.5685C>G (p.Phe1895Leu)
c.5556C>G (p.Phe1852Leu)
c.5544C>G (p.Phe1848Leu)
c.5517C>G (p.Phe1839Leu)
n.6101C>G
c.5871C>G (p.Phe1957Leu)
c.5865C>G (p.Phe1955Leu)
c.5862C>G (p.Phe1954Leu)
c.5757C>G (p.Phe1919Leu)
c.5754C>G (p.Phe1918Leu)
n.5886C>G
n.5801C>G
n.5872C>G
11g.77207327C>TCA475797302MYO7Ac.5781C>T (p.Phe1927=)
c.3608C>T
c.5634C>T (p.Phe1878=)
c.3207C>T (p.Phe1069=)
c.5667C>T (p.Phe1889=)
n.3317C>T
n.695C>T
c.5664C>T (p.Phe1888=)
c.5772C>T (p.Phe1924=)
c.5775C>T (p.Phe1925=)
c.5748C>T (p.Phe1916=)
c.5685C>T (p.Phe1895=)
c.5556C>T (p.Phe1852=)
c.5544C>T (p.Phe1848=)
c.5517C>T (p.Phe1839=)
n.6101C>T
c.5871C>T (p.Phe1957=)
c.5865C>T (p.Phe1955=)
c.5862C>T (p.Phe1954=)
c.5757C>T (p.Phe1919=)
c.5754C>T (p.Phe1918=)
n.5886C>T
n.5801C>T
n.5872C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.77207328T>ACA381953985MYO7Ac.5782T>A (p.Cys1928Ser)
c.3609T>A
c.5635T>A (p.Cys1879Ser)
c.3208T>A (p.Cys1070Ser)
c.5668T>A (p.Cys1890Ser)
n.3318T>A
n.696T>A
c.5665T>A (p.Cys1889Ser)
c.5773T>A (p.Cys1925Ser)
c.5776T>A (p.Cys1926Ser)
c.5749T>A (p.Cys1917Ser)
c.5686T>A (p.Cys1896Ser)
c.5557T>A (p.Cys1853Ser)
c.5545T>A (p.Cys1849Ser)
c.5518T>A (p.Cys1840Ser)
n.6102T>A
c.5872T>A (p.Cys1958Ser)
c.5866T>A (p.Cys1956Ser)
c.5863T>A (p.Cys1955Ser)
c.5758T>A (p.Cys1920Ser)
c.5755T>A (p.Cys1919Ser)
n.5887T>A
n.5802T>A
n.5873T>A
11g.77207328T>CCA6198832MYO7Ac.5782T>C (p.Cys1928Arg)
c.3609T>C
c.5635T>C (p.Cys1879Arg)
c.3208T>C (p.Cys1070Arg)
c.5668T>C (p.Cys1890Arg)
n.3318T>C
n.696T>C
c.5665T>C (p.Cys1889Arg)
c.5773T>C (p.Cys1925Arg)
c.5776T>C (p.Cys1926Arg)
c.5749T>C (p.Cys1917Arg)
c.5686T>C (p.Cys1896Arg)
c.5557T>C (p.Cys1853Arg)
c.5545T>C (p.Cys1849Arg)
c.5518T>C (p.Cys1840Arg)
n.6102T>C
c.5872T>C (p.Cys1958Arg)
c.5866T>C (p.Cys1956Arg)
c.5863T>C (p.Cys1955Arg)
c.5758T>C (p.Cys1920Arg)
c.5755T>C (p.Cys1919Arg)
n.5887T>C
n.5802T>C
n.5873T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.77207328T>GCA381953986MYO7Ac.5782T>G (p.Cys1928Gly)
c.3609T>G
c.5635T>G (p.Cys1879Gly)
c.3208T>G (p.Cys1070Gly)
c.5668T>G (p.Cys1890Gly)
n.3318T>G
n.696T>G
c.5665T>G (p.Cys1889Gly)
c.5773T>G (p.Cys1925Gly)
c.5776T>G (p.Cys1926Gly)
c.5749T>G (p.Cys1917Gly)
c.5686T>G (p.Cys1896Gly)
c.5557T>G (p.Cys1853Gly)
c.5545T>G (p.Cys1849Gly)
c.5518T>G (p.Cys1840Gly)
n.6102T>G
c.5872T>G (p.Cys1958Gly)
c.5866T>G (p.Cys1956Gly)
c.5863T>G (p.Cys1955Gly)
c.5758T>G (p.Cys1920Gly)
c.5755T>G (p.Cys1919Gly)
n.5887T>G
n.5802T>G
n.5873T>G
11g.77207328T=CA1984127859MYO7Ac.5782T= (p.Cys1928=)
c.3609T=
c.5635T= (p.Cys1879=)
c.3208T= (p.Cys1070=)
c.5668T= (p.Cys1890=)
n.3318T=
n.696T=
c.5665T= (p.Cys1889=)
c.5773T= (p.Cys1925=)
c.5776T= (p.Cys1926=)
c.5749T= (p.Cys1917=)
c.5686T= (p.Cys1896=)
c.5557T= (p.Cys1853=)
c.5545T= (p.Cys1849=)
c.5518T= (p.Cys1840=)
n.6102T=
c.5872T= (p.Cys1958=)
c.5866T= (p.Cys1956=)
c.5863T= (p.Cys1955=)
c.5758T= (p.Cys1920=)
c.5755T= (p.Cys1919=)
n.5887T=
n.5802T=
n.5873T=
11g.77207329G>ACA381953989MYO7Ac.5783G>A (p.Cys1928Tyr)
c.3610G>A
c.5636G>A (p.Cys1879Tyr)
c.3209G>A (p.Cys1070Tyr)
c.5669G>A (p.Cys1890Tyr)
n.3319G>A
n.697G>A
c.5666G>A (p.Cys1889Tyr)
c.5774G>A (p.Cys1925Tyr)
c.5777G>A (p.Cys1926Tyr)
c.5750G>A (p.Cys1917Tyr)
c.5687G>A (p.Cys1896Tyr)
c.5558G>A (p.Cys1853Tyr)
c.5546G>A (p.Cys1849Tyr)
c.5519G>A (p.Cys1840Tyr)
n.6103G>A
c.5873G>A (p.Cys1958Tyr)
c.5867G>A (p.Cys1956Tyr)
c.5864G>A (p.Cys1955Tyr)
c.5759G>A (p.Cys1920Tyr)
c.5756G>A (p.Cys1919Tyr)
n.5888G>A
n.5803G>A
n.5874G>A
11g.77207329G>CCA381953992MYO7Ac.5783G>C (p.Cys1928Ser)
c.3610G>C
c.5636G>C (p.Cys1879Ser)
c.3209G>C (p.Cys1070Ser)
c.5669G>C (p.Cys1890Ser)
n.3319G>C
n.697G>C
c.5666G>C (p.Cys1889Ser)
c.5774G>C (p.Cys1925Ser)
c.5777G>C (p.Cys1926Ser)
c.5750G>C (p.Cys1917Ser)
c.5687G>C (p.Cys1896Ser)
c.5558G>C (p.Cys1853Ser)
c.5546G>C (p.Cys1849Ser)
c.5519G>C (p.Cys1840Ser)
n.6103G>C
c.5873G>C (p.Cys1958Ser)
c.5867G>C (p.Cys1956Ser)
c.5864G>C (p.Cys1955Ser)
c.5759G>C (p.Cys1920Ser)
c.5756G>C (p.Cys1919Ser)
n.5888G>C
n.5803G>C
n.5874G>C
11g.77207329G>TCA381953990MYO7Ac.5783G>T (p.Cys1928Phe)
c.3610G>T
c.5636G>T (p.Cys1879Phe)
c.3209G>T (p.Cys1070Phe)
c.5669G>T (p.Cys1890Phe)
n.3319G>T
n.697G>T
c.5666G>T (p.Cys1889Phe)
c.5774G>T (p.Cys1925Phe)
c.5777G>T (p.Cys1926Phe)
c.5750G>T (p.Cys1917Phe)
c.5687G>T (p.Cys1896Phe)
c.5558G>T (p.Cys1853Phe)
c.5546G>T (p.Cys1849Phe)
c.5519G>T (p.Cys1840Phe)
n.6103G>T
c.5873G>T (p.Cys1958Phe)
c.5867G>T (p.Cys1956Phe)
c.5864G>T (p.Cys1955Phe)
c.5759G>T (p.Cys1920Phe)
c.5756G>T (p.Cys1919Phe)
n.5888G>T
n.5803G>T
n.5874G>T
11g.77207330C>ACA381953994MYO7Ac.5784C>A (p.Cys1928Ter)
c.3611C>A
c.5637C>A (p.Cys1879Ter)
c.3210C>A (p.Cys1070Ter)
c.5670C>A (p.Cys1890Ter)
n.3320C>A
n.698C>A
c.5667C>A (p.Cys1889Ter)
c.5775C>A (p.Cys1925Ter)
c.5778C>A (p.Cys1926Ter)
c.5751C>A (p.Cys1917Ter)
c.5688C>A (p.Cys1896Ter)
c.5559C>A (p.Cys1853Ter)
c.5547C>A (p.Cys1849Ter)
c.5520C>A (p.Cys1840Ter)
n.6104C>A
c.5874C>A (p.Cys1958Ter)
c.5868C>A (p.Cys1956Ter)
c.5865C>A (p.Cys1955Ter)
c.5760C>A (p.Cys1920Ter)
c.5757C>A (p.Cys1919Ter)
n.5889C>A
n.5804C>A
n.5875C>A
11g.77207330C=CA1984127860MYO7Ac.5784C= (p.Cys1928=)
c.3611C=
c.5637C= (p.Cys1879=)
c.3210C= (p.Cys1070=)
c.5670C= (p.Cys1890=)
n.3320C=
n.698C=
c.5667C= (p.Cys1889=)
c.5775C= (p.Cys1925=)
c.5778C= (p.Cys1926=)
c.5751C= (p.Cys1917=)
c.5688C= (p.Cys1896=)
c.5559C= (p.Cys1853=)
c.5547C= (p.Cys1849=)
c.5520C= (p.Cys1840=)
n.6104C=
c.5874C= (p.Cys1958=)
c.5868C= (p.Cys1956=)
c.5865C= (p.Cys1955=)
c.5760C= (p.Cys1920=)
c.5757C= (p.Cys1919=)
n.5889C=
n.5804C=
n.5875C=
11g.77207330C>GCA381953996MYO7Ac.5784C>G (p.Cys1928Trp)
c.3611C>G
c.5637C>G (p.Cys1879Trp)
c.3210C>G (p.Cys1070Trp)
c.5670C>G (p.Cys1890Trp)
n.3320C>G
n.698C>G
c.5667C>G (p.Cys1889Trp)
c.5775C>G (p.Cys1925Trp)
c.5778C>G (p.Cys1926Trp)
c.5751C>G (p.Cys1917Trp)
c.5688C>G (p.Cys1896Trp)
c.5559C>G (p.Cys1853Trp)
c.5547C>G (p.Cys1849Trp)
c.5520C>G (p.Cys1840Trp)
n.6104C>G
c.5874C>G (p.Cys1958Trp)
c.5868C>G (p.Cys1956Trp)
c.5865C>G (p.Cys1955Trp)
c.5760C>G (p.Cys1920Trp)
c.5757C>G (p.Cys1919Trp)
n.5889C>G
n.5804C>G
n.5875C>G
 ClinVar
11g.77207330C>TCA475797303MYO7Ac.5784C>T (p.Cys1928=)
c.3611C>T
c.5637C>T (p.Cys1879=)
c.3210C>T (p.Cys1070=)
c.5670C>T (p.Cys1890=)
n.3320C>T
n.698C>T
c.5667C>T (p.Cys1889=)
c.5775C>T (p.Cys1925=)
c.5778C>T (p.Cys1926=)
c.5751C>T (p.Cys1917=)
c.5688C>T (p.Cys1896=)
c.5559C>T (p.Cys1853=)
c.5547C>T (p.Cys1849=)
c.5520C>T (p.Cys1840=)
n.6104C>T
c.5874C>T (p.Cys1958=)
c.5868C>T (p.Cys1956=)
c.5865C>T (p.Cys1955=)
c.5760C>T (p.Cys1920=)
c.5757C>T (p.Cys1919=)
n.5889C>T
n.5804C>T
n.5875C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77207331C>ACA381953998MYO7Ac.5785C>A (p.Gln1929Lys)
c.3612C>A
c.5638C>A (p.Gln1880Lys)
c.3211C>A (p.Gln1071Lys)
c.5671C>A (p.Gln1891Lys)
n.3321C>A
n.699C>A
c.5668C>A (p.Gln1890Lys)
c.5776C>A (p.Gln1926Lys)
c.5779C>A (p.Gln1927Lys)
c.5752C>A (p.Gln1918Lys)
c.5689C>A (p.Gln1897Lys)
c.5560C>A (p.Gln1854Lys)
c.5548C>A (p.Gln1850Lys)
c.5521C>A (p.Gln1841Lys)
n.6105C>A
c.5875C>A (p.Gln1959Lys)
c.5869C>A (p.Gln1957Lys)
c.5866C>A (p.Gln1956Lys)
c.5761C>A (p.Gln1921Lys)
c.5758C>A (p.Gln1920Lys)
n.5890C>A
n.5805C>A
n.5876C>A
11g.77207331C=CA1984127861MYO7Ac.5785C= (p.Gln1929=)
c.3612C=
c.5638C= (p.Gln1880=)
c.3211C= (p.Gln1071=)
c.5671C= (p.Gln1891=)
n.3321C=
n.699C=
c.5668C= (p.Gln1890=)
c.5776C= (p.Gln1926=)
c.5779C= (p.Gln1927=)
c.5752C= (p.Gln1918=)
c.5689C= (p.Gln1897=)
c.5560C= (p.Gln1854=)
c.5548C= (p.Gln1850=)
c.5521C= (p.Gln1841=)
n.6105C=
c.5875C= (p.Gln1959=)
c.5869C= (p.Gln1957=)
c.5866C= (p.Gln1956=)
c.5761C= (p.Gln1921=)
c.5758C= (p.Gln1920=)
n.5890C=
n.5805C=
n.5876C=
11g.77207331C>GCA381954000MYO7Ac.5785C>G (p.Gln1929Glu)
c.3612C>G
c.5638C>G (p.Gln1880Glu)
c.3211C>G (p.Gln1071Glu)
c.5671C>G (p.Gln1891Glu)
n.3321C>G
n.699C>G
c.5668C>G (p.Gln1890Glu)
c.5776C>G (p.Gln1926Glu)
c.5779C>G (p.Gln1927Glu)
c.5752C>G (p.Gln1918Glu)
c.5689C>G (p.Gln1897Glu)
c.5560C>G (p.Gln1854Glu)
c.5548C>G (p.Gln1850Glu)
c.5521C>G (p.Gln1841Glu)
n.6105C>G
c.5875C>G (p.Gln1959Glu)
c.5869C>G (p.Gln1957Glu)
c.5866C>G (p.Gln1956Glu)
c.5761C>G (p.Gln1921Glu)
c.5758C>G (p.Gln1920Glu)
n.5890C>G
n.5805C>G
n.5876C>G
11g.77207331C>TCA381954001MYO7Ac.5785C>T (p.Gln1929Ter)
c.3612C>T
c.5638C>T (p.Gln1880Ter)
c.3211C>T (p.Gln1071Ter)
c.5671C>T (p.Gln1891Ter)
n.3321C>T
n.699C>T
c.5668C>T (p.Gln1890Ter)
c.5776C>T (p.Gln1926Ter)
c.5779C>T (p.Gln1927Ter)
c.5752C>T (p.Gln1918Ter)
c.5689C>T (p.Gln1897Ter)
c.5560C>T (p.Gln1854Ter)
c.5548C>T (p.Gln1850Ter)
c.5521C>T (p.Gln1841Ter)
n.6105C>T
c.5875C>T (p.Gln1959Ter)
c.5869C>T (p.Gln1957Ter)
c.5866C>T (p.Gln1956Ter)
c.5761C>T (p.Gln1921Ter)
c.5758C>T (p.Gln1920Ter)
n.5890C>T
n.5805C>T
n.5876C>T
 ClinVar dbSNP
11g.77207332A=CA1984127862MYO7Ac.5786A= (p.Gln1929=)
c.3613A=
c.5639A= (p.Gln1880=)
c.3212A= (p.Gln1071=)
c.5672A= (p.Gln1891=)
n.3322A=
n.700A=
c.5669A= (p.Gln1890=)
c.5777A= (p.Gln1926=)
c.5780A= (p.Gln1927=)
c.5753A= (p.Gln1918=)
c.5690A= (p.Gln1897=)
c.5561A= (p.Gln1854=)
c.5549A= (p.Gln1850=)
c.5522A= (p.Gln1841=)
n.6106A=
c.5876A= (p.Gln1959=)
c.5870A= (p.Gln1957=)
c.5867A= (p.Gln1956=)
c.5762A= (p.Gln1921=)
c.5759A= (p.Gln1920=)
n.5891A=
n.5806A=
n.5877A=
11g.77207332A>CCA381954003MYO7Ac.5786A>C (p.Gln1929Pro)
c.3613A>C
c.5639A>C (p.Gln1880Pro)
c.3212A>C (p.Gln1071Pro)
c.5672A>C (p.Gln1891Pro)
n.3322A>C
n.700A>C
c.5669A>C (p.Gln1890Pro)
c.5777A>C (p.Gln1926Pro)
c.5780A>C (p.Gln1927Pro)
c.5753A>C (p.Gln1918Pro)
c.5690A>C (p.Gln1897Pro)
c.5561A>C (p.Gln1854Pro)
c.5549A>C (p.Gln1850Pro)
c.5522A>C (p.Gln1841Pro)
n.6106A>C
c.5876A>C (p.Gln1959Pro)
c.5870A>C (p.Gln1957Pro)
c.5867A>C (p.Gln1956Pro)
c.5762A>C (p.Gln1921Pro)
c.5759A>C (p.Gln1920Pro)
n.5891A>C
n.5806A>C
n.5877A>C
11g.77207332A>GCA6198833MYO7Ac.5786A>G (p.Gln1929Arg)
c.3613A>G
c.5639A>G (p.Gln1880Arg)
c.3212A>G (p.Gln1071Arg)
c.5672A>G (p.Gln1891Arg)
n.3322A>G
n.700A>G
c.5669A>G (p.Gln1890Arg)
c.5777A>G (p.Gln1926Arg)
c.5780A>G (p.Gln1927Arg)
c.5753A>G (p.Gln1918Arg)
c.5690A>G (p.Gln1897Arg)
c.5561A>G (p.Gln1854Arg)
c.5549A>G (p.Gln1850Arg)
c.5522A>G (p.Gln1841Arg)
n.6106A>G
c.5876A>G (p.Gln1959Arg)
c.5870A>G (p.Gln1957Arg)
c.5867A>G (p.Gln1956Arg)
c.5762A>G (p.Gln1921Arg)
c.5759A>G (p.Gln1920Arg)
n.5891A>G
n.5806A>G
n.5877A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77207332A>TCA381954005MYO7Ac.5786A>T (p.Gln1929Leu)
c.3613A>T
c.5639A>T (p.Gln1880Leu)
c.3212A>T (p.Gln1071Leu)
c.5672A>T (p.Gln1891Leu)
n.3322A>T
n.700A>T
c.5669A>T (p.Gln1890Leu)
c.5777A>T (p.Gln1926Leu)
c.5780A>T (p.Gln1927Leu)
c.5753A>T (p.Gln1918Leu)
c.5690A>T (p.Gln1897Leu)
c.5561A>T (p.Gln1854Leu)
c.5549A>T (p.Gln1850Leu)
c.5522A>T (p.Gln1841Leu)
n.6106A>T
c.5876A>T (p.Gln1959Leu)
c.5870A>T (p.Gln1957Leu)
c.5867A>T (p.Gln1956Leu)
c.5762A>T (p.Gln1921Leu)
c.5759A>T (p.Gln1920Leu)
n.5891A>T
n.5806A>T
n.5877A>T
11g.77207333G>ACA475797304MYO7Ac.5787G>A (p.Gln1929=)
c.3614G>A
c.5640G>A (p.Gln1880=)
c.3213G>A (p.Gln1071=)
c.5673G>A (p.Gln1891=)
n.3323G>A
n.701G>A
c.5670G>A (p.Gln1890=)
c.5778G>A (p.Gln1926=)
c.5781G>A (p.Gln1927=)
c.5754G>A (p.Gln1918=)
c.5691G>A (p.Gln1897=)
c.5562G>A (p.Gln1854=)
c.5550G>A (p.Gln1850=)
c.5523G>A (p.Gln1841=)
n.6107G>A
c.5877G>A (p.Gln1959=)
c.5871G>A (p.Gln1957=)
c.5868G>A (p.Gln1956=)
c.5763G>A (p.Gln1921=)
c.5760G>A (p.Gln1920=)
n.5892G>A
n.5807G>A
n.5878G>A
11g.77207333G>CCA6198834MYO7Ac.5787G>C (p.Gln1929His)
c.3614G>C
c.5640G>C (p.Gln1880His)
c.3213G>C (p.Gln1071His)
c.5673G>C (p.Gln1891His)
n.3323G>C
n.701G>C
c.5670G>C (p.Gln1890His)
c.5778G>C (p.Gln1926His)
c.5781G>C (p.Gln1927His)
c.5754G>C (p.Gln1918His)
c.5691G>C (p.Gln1897His)
c.5562G>C (p.Gln1854His)
c.5550G>C (p.Gln1850His)
c.5523G>C (p.Gln1841His)
n.6107G>C
c.5877G>C (p.Gln1959His)
c.5871G>C (p.Gln1957His)
c.5868G>C (p.Gln1956His)
c.5763G>C (p.Gln1921His)
c.5760G>C (p.Gln1920His)
n.5892G>C
n.5807G>C
n.5878G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.77207333G=CA1984127863MYO7Ac.5787G= (p.Gln1929=)
c.3614G=
c.5640G= (p.Gln1880=)
c.3213G= (p.Gln1071=)
c.5673G= (p.Gln1891=)
n.3323G=
n.701G=
c.5670G= (p.Gln1890=)
c.5778G= (p.Gln1926=)
c.5781G= (p.Gln1927=)
c.5754G= (p.Gln1918=)
c.5691G= (p.Gln1897=)
c.5562G= (p.Gln1854=)
c.5550G= (p.Gln1850=)
c.5523G= (p.Gln1841=)
n.6107G=
c.5877G= (p.Gln1959=)
c.5871G= (p.Gln1957=)
c.5868G= (p.Gln1956=)
c.5763G= (p.Gln1921=)
c.5760G= (p.Gln1920=)
n.5892G=
n.5807G=
n.5878G=
11g.77207333G>TCA381954007MYO7Ac.5787G>T (p.Gln1929His)
c.3614G>T
c.5640G>T (p.Gln1880His)
c.3213G>T (p.Gln1071His)
c.5673G>T (p.Gln1891His)
n.3323G>T
n.701G>T
c.5670G>T (p.Gln1890His)
c.5778G>T (p.Gln1926His)
c.5781G>T (p.Gln1927His)
c.5754G>T (p.Gln1918His)
c.5691G>T (p.Gln1897His)
c.5562G>T (p.Gln1854His)
c.5550G>T (p.Gln1850His)
c.5523G>T (p.Gln1841His)
n.6107G>T
c.5877G>T (p.Gln1959His)
c.5871G>T (p.Gln1957His)
c.5868G>T (p.Gln1956His)
c.5763G>T (p.Gln1921His)
c.5760G>T (p.Gln1920His)
n.5892G>T
n.5807G>T
n.5878G>T
11g.77207334A=CA1984127864MYO7Ac.5788A= (p.Asn1930=)
c.3615A=
c.5641A= (p.Asn1881=)
c.3214A= (p.Asn1072=)
c.5674A= (p.Asn1892=)
n.3324A=
n.702A=
c.5671A= (p.Asn1891=)
c.5779A= (p.Asn1927=)
c.5782A= (p.Asn1928=)
c.5755A= (p.Asn1919=)
c.5692A= (p.Asn1898=)
c.5563A= (p.Asn1855=)
c.5551A= (p.Asn1851=)
c.5524A= (p.Asn1842=)
n.6108A=
c.5878A= (p.Asn1960=)
c.5872A= (p.Asn1958=)
c.5869A= (p.Asn1957=)
c.5764A= (p.Asn1922=)
c.5761A= (p.Asn1921=)
n.5893A=
n.5808A=
n.5879A=
11g.77207334A>CCA381954008MYO7Ac.5788A>C (p.Asn1930His)
c.3615A>C
c.5641A>C (p.Asn1881His)
c.3214A>C (p.Asn1072His)
c.5674A>C (p.Asn1892His)
n.3324A>C
n.702A>C
c.5671A>C (p.Asn1891His)
c.5779A>C (p.Asn1927His)
c.5782A>C (p.Asn1928His)
c.5755A>C (p.Asn1919His)
c.5692A>C (p.Asn1898His)
c.5563A>C (p.Asn1855His)
c.5551A>C (p.Asn1851His)
c.5524A>C (p.Asn1842His)
n.6108A>C
c.5878A>C (p.Asn1960His)
c.5872A>C (p.Asn1958His)
c.5869A>C (p.Asn1957His)
c.5764A>C (p.Asn1922His)
c.5761A>C (p.Asn1921His)
n.5893A>C
n.5808A>C
n.5879A>C
11g.77207334A>GCA381954009MYO7Ac.5788A>G (p.Asn1930Asp)
c.3615A>G
c.5641A>G (p.Asn1881Asp)
c.3214A>G (p.Asn1072Asp)
c.5674A>G (p.Asn1892Asp)
n.3324A>G
n.702A>G
c.5671A>G (p.Asn1891Asp)
c.5779A>G (p.Asn1927Asp)
c.5782A>G (p.Asn1928Asp)
c.5755A>G (p.Asn1919Asp)
c.5692A>G (p.Asn1898Asp)
c.5563A>G (p.Asn1855Asp)
c.5551A>G (p.Asn1851Asp)
c.5524A>G (p.Asn1842Asp)
n.6108A>G
c.5878A>G (p.Asn1960Asp)
c.5872A>G (p.Asn1958Asp)
c.5869A>G (p.Asn1957Asp)
c.5764A>G (p.Asn1922Asp)
c.5761A>G (p.Asn1921Asp)
n.5893A>G
n.5808A>G
n.5879A>G
11g.77207334A>TCA381954010MYO7Ac.5788A>T (p.Asn1930Tyr)
c.3615A>T
c.5641A>T (p.Asn1881Tyr)
c.3214A>T (p.Asn1072Tyr)
c.5674A>T (p.Asn1892Tyr)
n.3324A>T
n.702A>T
c.5671A>T (p.Asn1891Tyr)
c.5779A>T (p.Asn1927Tyr)
c.5782A>T (p.Asn1928Tyr)
c.5755A>T (p.Asn1919Tyr)
c.5692A>T (p.Asn1898Tyr)
c.5563A>T (p.Asn1855Tyr)
c.5551A>T (p.Asn1851Tyr)
c.5524A>T (p.Asn1842Tyr)
n.6108A>T
c.5878A>T (p.Asn1960Tyr)
c.5872A>T (p.Asn1958Tyr)
c.5869A>T (p.Asn1957Tyr)
c.5764A>T (p.Asn1922Tyr)
c.5761A>T (p.Asn1921Tyr)
n.5893A>T
n.5808A>T
n.5879A>T
 dbSNP
11g.77207335A>CCA381954017MYO7Ac.5789A>C (p.Asn1930Thr)
c.3616A>C
c.5642A>C (p.Asn1881Thr)
c.3215A>C (p.Asn1072Thr)
c.5675A>C (p.Asn1892Thr)
n.3325A>C
n.703A>C
c.5672A>C (p.Asn1891Thr)
c.5780A>C (p.Asn1927Thr)
c.5783A>C (p.Asn1928Thr)
c.5756A>C (p.Asn1919Thr)
c.5693A>C (p.Asn1898Thr)
c.5564A>C (p.Asn1855Thr)
c.5552A>C (p.Asn1851Thr)
c.5525A>C (p.Asn1842Thr)
n.6109A>C
c.5879A>C (p.Asn1960Thr)
c.5873A>C (p.Asn1958Thr)
c.5870A>C (p.Asn1957Thr)
c.5765A>C (p.Asn1922Thr)
c.5762A>C (p.Asn1921Thr)
n.5894A>C
n.5809A>C
n.5880A>C
11g.77207335A>GCA381954013MYO7Ac.5789A>G (p.Asn1930Ser)
c.3616A>G
c.5642A>G (p.Asn1881Ser)
c.3215A>G (p.Asn1072Ser)
c.5675A>G (p.Asn1892Ser)
n.3325A>G
n.703A>G
c.5672A>G (p.Asn1891Ser)
c.5780A>G (p.Asn1927Ser)
c.5783A>G (p.Asn1928Ser)
c.5756A>G (p.Asn1919Ser)
c.5693A>G (p.Asn1898Ser)
c.5564A>G (p.Asn1855Ser)
c.5552A>G (p.Asn1851Ser)
c.5525A>G (p.Asn1842Ser)
n.6109A>G
c.5879A>G (p.Asn1960Ser)
c.5873A>G (p.Asn1958Ser)
c.5870A>G (p.Asn1957Ser)
c.5765A>G (p.Asn1922Ser)
c.5762A>G (p.Asn1921Ser)
n.5894A>G
n.5809A>G
n.5880A>G
 gnomAD v4
11g.77207335A>TCA381954015MYO7Ac.5789A>T (p.Asn1930Ile)
c.3616A>T
c.5642A>T (p.Asn1881Ile)
c.3215A>T (p.Asn1072Ile)
c.5675A>T (p.Asn1892Ile)
n.3325A>T
n.703A>T
c.5672A>T (p.Asn1891Ile)
c.5780A>T (p.Asn1927Ile)
c.5783A>T (p.Asn1928Ile)
c.5756A>T (p.Asn1919Ile)
c.5693A>T (p.Asn1898Ile)
c.5564A>T (p.Asn1855Ile)
c.5552A>T (p.Asn1851Ile)
c.5525A>T (p.Asn1842Ile)
n.6109A>T
c.5879A>T (p.Asn1960Ile)
c.5873A>T (p.Asn1958Ile)
c.5870A>T (p.Asn1957Ile)
c.5765A>T (p.Asn1922Ile)
c.5762A>T (p.Asn1921Ile)
n.5894A>T
n.5809A>T
n.5880A>T
11g.77207336C>ACA381954019MYO7Ac.5790C>A (p.Asn1930Lys)
c.3617C>A
c.5643C>A (p.Asn1881Lys)
c.3216C>A (p.Asn1072Lys)
c.5676C>A (p.Asn1892Lys)
n.3326C>A
n.704C>A
c.5673C>A (p.Asn1891Lys)
c.5781C>A (p.Asn1927Lys)
c.5784C>A (p.Asn1928Lys)
c.5757C>A (p.Asn1919Lys)
c.5694C>A (p.Asn1898Lys)
c.5565C>A (p.Asn1855Lys)
c.5553C>A (p.Asn1851Lys)
c.5526C>A (p.Asn1842Lys)
n.6110C>A
c.5880C>A (p.Asn1960Lys)
c.5874C>A (p.Asn1958Lys)
c.5871C>A (p.Asn1957Lys)
c.5766C>A (p.Asn1922Lys)
c.5763C>A (p.Asn1921Lys)
n.5895C>A
n.5810C>A
n.5881C>A
11g.77207336C>GCA381954020MYO7Ac.5790C>G (p.Asn1930Lys)
c.3617C>G
c.5643C>G (p.Asn1881Lys)
c.3216C>G (p.Asn1072Lys)
c.5676C>G (p.Asn1892Lys)
n.3326C>G
n.704C>G
c.5673C>G (p.Asn1891Lys)
c.5781C>G (p.Asn1927Lys)
c.5784C>G (p.Asn1928Lys)
c.5757C>G (p.Asn1919Lys)
c.5694C>G (p.Asn1898Lys)
c.5565C>G (p.Asn1855Lys)
c.5553C>G (p.Asn1851Lys)
c.5526C>G (p.Asn1842Lys)
n.6110C>G
c.5880C>G (p.Asn1960Lys)
c.5874C>G (p.Asn1958Lys)
c.5871C>G (p.Asn1957Lys)
c.5766C>G (p.Asn1922Lys)
c.5763C>G (p.Asn1921Lys)
n.5895C>G
n.5810C>G
n.5881C>G
11g.77207336C>TCA475797305MYO7Ac.5790C>T (p.Asn1930=)
c.3617C>T
c.5643C>T (p.Asn1881=)
c.3216C>T (p.Asn1072=)
c.5676C>T (p.Asn1892=)
n.3326C>T
n.704C>T
c.5673C>T (p.Asn1891=)
c.5781C>T (p.Asn1927=)
c.5784C>T (p.Asn1928=)
c.5757C>T (p.Asn1919=)
c.5694C>T (p.Asn1898=)
c.5565C>T (p.Asn1855=)
c.5553C>T (p.Asn1851=)
c.5526C>T (p.Asn1842=)
n.6110C>T
c.5880C>T (p.Asn1960=)
c.5874C>T (p.Asn1958=)
c.5871C>T (p.Asn1957=)
c.5766C>T (p.Asn1922=)
c.5763C>T (p.Asn1921=)
n.5895C>T
n.5810C>T
n.5881C>T
 ClinVar
11g.77207337A=CA1984127865MYO7Ac.5791A= (p.Ile1931=)
c.3618A=
c.5644A= (p.Ile1882=)
c.3217A= (p.Ile1073=)
c.5677A= (p.Ile1893=)
n.3327A=
n.705A=
c.5674A= (p.Ile1892=)
c.5782A= (p.Ile1928=)
c.5785A= (p.Ile1929=)
c.5758A= (p.Ile1920=)
c.5695A= (p.Ile1899=)
c.5566A= (p.Ile1856=)
c.5554A= (p.Ile1852=)
c.5527A= (p.Ile1843=)
n.6111A=
c.5881A= (p.Ile1961=)
c.5875A= (p.Ile1959=)
c.5872A= (p.Ile1958=)
c.5767A= (p.Ile1923=)
c.5764A= (p.Ile1922=)
n.5896A=
n.5811A=
n.5882A=
11g.77207337A>CCA381954022MYO7Ac.5791A>C (p.Ile1931Leu)
c.3618A>C
c.5644A>C (p.Ile1882Leu)
c.3217A>C (p.Ile1073Leu)
c.5677A>C (p.Ile1893Leu)
n.3327A>C
n.705A>C
c.5674A>C (p.Ile1892Leu)
c.5782A>C (p.Ile1928Leu)
c.5785A>C (p.Ile1929Leu)
c.5758A>C (p.Ile1920Leu)
c.5695A>C (p.Ile1899Leu)
c.5566A>C (p.Ile1856Leu)
c.5554A>C (p.Ile1852Leu)
c.5527A>C (p.Ile1843Leu)
n.6111A>C
c.5881A>C (p.Ile1961Leu)
c.5875A>C (p.Ile1959Leu)
c.5872A>C (p.Ile1958Leu)
c.5767A>C (p.Ile1923Leu)
c.5764A>C (p.Ile1922Leu)
n.5896A>C
n.5811A>C
n.5882A>C
11g.77207337A>GCA6198835MYO7Ac.5791A>G (p.Ile1931Val)
c.3618A>G
c.5644A>G (p.Ile1882Val)
c.3217A>G (p.Ile1073Val)
c.5677A>G (p.Ile1893Val)
n.3327A>G
n.705A>G
c.5674A>G (p.Ile1892Val)
c.5782A>G (p.Ile1928Val)
c.5785A>G (p.Ile1929Val)
c.5758A>G (p.Ile1920Val)
c.5695A>G (p.Ile1899Val)
c.5566A>G (p.Ile1856Val)
c.5554A>G (p.Ile1852Val)
c.5527A>G (p.Ile1843Val)
n.6111A>G
c.5881A>G (p.Ile1961Val)
c.5875A>G (p.Ile1959Val)
c.5872A>G (p.Ile1958Val)
c.5767A>G (p.Ile1923Val)
c.5764A>G (p.Ile1922Val)
n.5896A>G
n.5811A>G
n.5882A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77207337A>TCA381954024MYO7Ac.5791A>T (p.Ile1931Phe)
c.3618A>T
c.5644A>T (p.Ile1882Phe)
c.3217A>T (p.Ile1073Phe)
c.5677A>T (p.Ile1893Phe)
n.3327A>T
n.705A>T
c.5674A>T (p.Ile1892Phe)
c.5782A>T (p.Ile1928Phe)
c.5785A>T (p.Ile1929Phe)
c.5758A>T (p.Ile1920Phe)
c.5695A>T (p.Ile1899Phe)
c.5566A>T (p.Ile1856Phe)
c.5554A>T (p.Ile1852Phe)
c.5527A>T (p.Ile1843Phe)
n.6111A>T
c.5881A>T (p.Ile1961Phe)
c.5875A>T (p.Ile1959Phe)
c.5872A>T (p.Ile1958Phe)
c.5767A>T (p.Ile1923Phe)
c.5764A>T (p.Ile1922Phe)
n.5896A>T
n.5811A>T
n.5882A>T
11g.77207338T>ACA381954026MYO7Ac.5792T>A (p.Ile1931Asn)
c.3619T>A
c.5645T>A (p.Ile1882Asn)
c.3218T>A (p.Ile1073Asn)
c.5678T>A (p.Ile1893Asn)
n.3328T>A
n.706T>A
c.5675T>A (p.Ile1892Asn)
c.5783T>A (p.Ile1928Asn)
c.5786T>A (p.Ile1929Asn)
c.5759T>A (p.Ile1920Asn)
c.5696T>A (p.Ile1899Asn)
c.5567T>A (p.Ile1856Asn)
c.5555T>A (p.Ile1852Asn)
c.5528T>A (p.Ile1843Asn)
n.6112T>A
c.5882T>A (p.Ile1961Asn)
c.5876T>A (p.Ile1959Asn)
c.5873T>A (p.Ile1958Asn)
c.5768T>A (p.Ile1923Asn)
c.5765T>A (p.Ile1922Asn)
n.5897T>A
n.5812T>A
n.5883T>A
11g.77207338T>CCA381954027MYO7Ac.5792T>C (p.Ile1931Thr)
c.3619T>C
c.5645T>C (p.Ile1882Thr)
c.3218T>C (p.Ile1073Thr)
c.5678T>C (p.Ile1893Thr)
n.3328T>C
n.706T>C
c.5675T>C (p.Ile1892Thr)
c.5783T>C (p.Ile1928Thr)
c.5786T>C (p.Ile1929Thr)
c.5759T>C (p.Ile1920Thr)
c.5696T>C (p.Ile1899Thr)
c.5567T>C (p.Ile1856Thr)
c.5555T>C (p.Ile1852Thr)
c.5528T>C (p.Ile1843Thr)
n.6112T>C
c.5882T>C (p.Ile1961Thr)
c.5876T>C (p.Ile1959Thr)
c.5873T>C (p.Ile1958Thr)
c.5768T>C (p.Ile1923Thr)
c.5765T>C (p.Ile1922Thr)
n.5897T>C
n.5812T>C
n.5883T>C
11g.77207338T>GCA381954028MYO7Ac.5792T>G (p.Ile1931Ser)
c.3619T>G
c.5645T>G (p.Ile1882Ser)
c.3218T>G (p.Ile1073Ser)
c.5678T>G (p.Ile1893Ser)
n.3328T>G
n.706T>G
c.5675T>G (p.Ile1892Ser)
c.5783T>G (p.Ile1928Ser)
c.5786T>G (p.Ile1929Ser)
c.5759T>G (p.Ile1920Ser)
c.5696T>G (p.Ile1899Ser)
c.5567T>G (p.Ile1856Ser)
c.5555T>G (p.Ile1852Ser)
c.5528T>G (p.Ile1843Ser)
n.6112T>G
c.5882T>G (p.Ile1961Ser)
c.5876T>G (p.Ile1959Ser)
c.5873T>G (p.Ile1958Ser)
c.5768T>G (p.Ile1923Ser)
c.5765T>G (p.Ile1922Ser)
n.5897T>G
n.5812T>G
n.5883T>G
11g.77207339C>ACA475797306MYO7Ac.5793C>A (p.Ile1931=)
c.3620C>A
c.5646C>A (p.Ile1882=)
c.3219C>A (p.Ile1073=)
c.5679C>A (p.Ile1893=)
n.3329C>A
n.707C>A
c.5676C>A (p.Ile1892=)
c.5784C>A (p.Ile1928=)
c.5787C>A (p.Ile1929=)
c.5760C>A (p.Ile1920=)
c.5697C>A (p.Ile1899=)
c.5568C>A (p.Ile1856=)
c.5556C>A (p.Ile1852=)
c.5529C>A (p.Ile1843=)
n.6113C>A
c.5883C>A (p.Ile1961=)
c.5877C>A (p.Ile1959=)
c.5874C>A (p.Ile1958=)
c.5769C>A (p.Ile1923=)
c.5766C>A (p.Ile1922=)
n.5898C>A
n.5813C>A
n.5884C>A
 ClinVar
11g.77207339C=CA1984127866MYO7Ac.5793C= (p.Ile1931=)
c.3620C=
c.5646C= (p.Ile1882=)
c.3219C= (p.Ile1073=)
c.5679C= (p.Ile1893=)
n.3329C=
n.707C=
c.5676C= (p.Ile1892=)
c.5784C= (p.Ile1928=)
c.5787C= (p.Ile1929=)
c.5760C= (p.Ile1920=)
c.5697C= (p.Ile1899=)
c.5568C= (p.Ile1856=)
c.5556C= (p.Ile1852=)
c.5529C= (p.Ile1843=)
n.6113C=
c.5883C= (p.Ile1961=)
c.5877C= (p.Ile1959=)
c.5874C= (p.Ile1958=)
c.5769C= (p.Ile1923=)
c.5766C= (p.Ile1922=)
n.5898C=
n.5813C=
n.5884C=
11g.77207339C>GCA381954030MYO7Ac.5793C>G (p.Ile1931Met)
c.3620C>G
c.5646C>G (p.Ile1882Met)
c.3219C>G (p.Ile1073Met)
c.5679C>G (p.Ile1893Met)
n.3329C>G
n.707C>G
c.5676C>G (p.Ile1892Met)
c.5784C>G (p.Ile1928Met)
c.5787C>G (p.Ile1929Met)
c.5760C>G (p.Ile1920Met)
c.5697C>G (p.Ile1899Met)
c.5568C>G (p.Ile1856Met)
c.5556C>G (p.Ile1852Met)
c.5529C>G (p.Ile1843Met)
n.6113C>G
c.5883C>G (p.Ile1961Met)
c.5877C>G (p.Ile1959Met)
c.5874C>G (p.Ile1958Met)
c.5769C>G (p.Ile1923Met)
c.5766C>G (p.Ile1922Met)
n.5898C>G
n.5813C>G
n.5884C>G
11g.77207339C>TCA6198836MYO7Ac.5793C>T (p.Ile1931=)
c.3620C>T
c.5646C>T (p.Ile1882=)
c.3219C>T (p.Ile1073=)
c.5679C>T (p.Ile1893=)
n.3329C>T
n.707C>T
c.5676C>T (p.Ile1892=)
c.5784C>T (p.Ile1928=)
c.5787C>T (p.Ile1929=)
c.5760C>T (p.Ile1920=)
c.5697C>T (p.Ile1899=)
c.5568C>T (p.Ile1856=)
c.5556C>T (p.Ile1852=)
c.5529C>T (p.Ile1843=)
n.6113C>T
c.5883C>T (p.Ile1961=)
c.5877C>T (p.Ile1959=)
c.5874C>T (p.Ile1958=)
c.5769C>T (p.Ile1923=)
c.5766C>T (p.Ile1922=)
n.5898C>T
n.5813C>T
n.5884C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77207340G>ACA6198837MYO7Ac.5794G>A (p.Ala1932Thr)
c.3621G>A
c.5647G>A (p.Ala1883Thr)
c.3220G>A (p.Ala1074Thr)
c.5680G>A (p.Ala1894Thr)
n.3330G>A
n.708G>A
c.5677G>A (p.Ala1893Thr)
c.5785G>A (p.Ala1929Thr)
c.5788G>A (p.Ala1930Thr)
c.5761G>A (p.Ala1921Thr)
c.5698G>A (p.Ala1900Thr)
c.5569G>A (p.Ala1857Thr)
c.5557G>A (p.Ala1853Thr)
c.5530G>A (p.Ala1844Thr)
n.6114G>A
c.5884G>A (p.Ala1962Thr)
c.5878G>A (p.Ala1960Thr)
c.5875G>A (p.Ala1959Thr)
c.5770G>A (p.Ala1924Thr)
c.5767G>A (p.Ala1923Thr)
n.5899G>A
n.5814G>A
n.5885G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77207340G>CCA381954032MYO7Ac.5794G>C (p.Ala1932Pro)
c.3621G>C
c.5647G>C (p.Ala1883Pro)
c.3220G>C (p.Ala1074Pro)
c.5680G>C (p.Ala1894Pro)
n.3330G>C
n.708G>C
c.5677G>C (p.Ala1893Pro)
c.5785G>C (p.Ala1929Pro)
c.5788G>C (p.Ala1930Pro)
c.5761G>C (p.Ala1921Pro)
c.5698G>C (p.Ala1900Pro)
c.5569G>C (p.Ala1857Pro)
c.5557G>C (p.Ala1853Pro)
c.5530G>C (p.Ala1844Pro)
n.6114G>C
c.5884G>C (p.Ala1962Pro)
c.5878G>C (p.Ala1960Pro)
c.5875G>C (p.Ala1959Pro)
c.5770G>C (p.Ala1924Pro)
c.5767G>C (p.Ala1923Pro)
n.5899G>C
n.5814G>C
n.5885G>C
 gnomAD v4
11g.77207340G=CA1984127867MYO7Ac.5794G= (p.Ala1932=)
c.3621G=
c.5647G= (p.Ala1883=)
c.3220G= (p.Ala1074=)
c.5680G= (p.Ala1894=)
n.3330G=
n.708G=
c.5677G= (p.Ala1893=)
c.5785G= (p.Ala1929=)
c.5788G= (p.Ala1930=)
c.5761G= (p.Ala1921=)
c.5698G= (p.Ala1900=)
c.5569G= (p.Ala1857=)
c.5557G= (p.Ala1853=)
c.5530G= (p.Ala1844=)
n.6114G=
c.5884G= (p.Ala1962=)
c.5878G= (p.Ala1960=)
c.5875G= (p.Ala1959=)
c.5770G= (p.Ala1924=)
c.5767G= (p.Ala1923=)
n.5899G=
n.5814G=
n.5885G=
11g.77207340G>TCA381954031MYO7Ac.5794G>T (p.Ala1932Ser)
c.3621G>T
c.5647G>T (p.Ala1883Ser)
c.3220G>T (p.Ala1074Ser)
c.5680G>T (p.Ala1894Ser)
n.3330G>T
n.708G>T
c.5677G>T (p.Ala1893Ser)
c.5785G>T (p.Ala1929Ser)
c.5788G>T (p.Ala1930Ser)
c.5761G>T (p.Ala1921Ser)
c.5698G>T (p.Ala1900Ser)
c.5569G>T (p.Ala1857Ser)
c.5557G>T (p.Ala1853Ser)
c.5530G>T (p.Ala1844Ser)
n.6114G>T
c.5884G>T (p.Ala1962Ser)
c.5878G>T (p.Ala1960Ser)
c.5875G>T (p.Ala1959Ser)
c.5770G>T (p.Ala1924Ser)
c.5767G>T (p.Ala1923Ser)
n.5899G>T
n.5814G>T
n.5885G>T
 gnomAD v4
11g.77207341C>ACA381954033MYO7Ac.5795C>A (p.Ala1932Asp)
c.3622C>A
c.5648C>A (p.Ala1883Asp)
c.3221C>A (p.Ala1074Asp)
c.5681C>A (p.Ala1894Asp)
n.3331C>A
n.709C>A
c.5678C>A (p.Ala1893Asp)
c.5786C>A (p.Ala1929Asp)
c.5789C>A (p.Ala1930Asp)
c.5762C>A (p.Ala1921Asp)
c.5699C>A (p.Ala1900Asp)
c.5570C>A (p.Ala1857Asp)
c.5558C>A (p.Ala1853Asp)
c.5531C>A (p.Ala1844Asp)
n.6115C>A
c.5885C>A (p.Ala1962Asp)
c.5879C>A (p.Ala1960Asp)
c.5876C>A (p.Ala1959Asp)
c.5771C>A (p.Ala1924Asp)
c.5768C>A (p.Ala1923Asp)
n.5900C>A
n.5815C>A
n.5886C>A
11g.77207341C>GCA381954034MYO7Ac.5795C>G (p.Ala1932Gly)
c.3622C>G
c.5648C>G (p.Ala1883Gly)
c.3221C>G (p.Ala1074Gly)
c.5681C>G (p.Ala1894Gly)
n.3331C>G
n.709C>G
c.5678C>G (p.Ala1893Gly)
c.5786C>G (p.Ala1929Gly)
c.5789C>G (p.Ala1930Gly)
c.5762C>G (p.Ala1921Gly)
c.5699C>G (p.Ala1900Gly)
c.5570C>G (p.Ala1857Gly)
c.5558C>G (p.Ala1853Gly)
c.5531C>G (p.Ala1844Gly)
n.6115C>G
c.5885C>G (p.Ala1962Gly)
c.5879C>G (p.Ala1960Gly)
c.5876C>G (p.Ala1959Gly)
c.5771C>G (p.Ala1924Gly)
c.5768C>G (p.Ala1923Gly)
n.5900C>G
n.5815C>G
n.5886C>G
11g.77207341C>TCA381954035MYO7Ac.5795C>T (p.Ala1932Val)
c.3622C>T
c.5648C>T (p.Ala1883Val)
c.3221C>T (p.Ala1074Val)
c.5681C>T (p.Ala1894Val)
n.3331C>T
n.709C>T
c.5678C>T (p.Ala1893Val)
c.5786C>T (p.Ala1929Val)
c.5789C>T (p.Ala1930Val)
c.5762C>T (p.Ala1921Val)
c.5699C>T (p.Ala1900Val)
c.5570C>T (p.Ala1857Val)
c.5558C>T (p.Ala1853Val)
c.5531C>T (p.Ala1844Val)
n.6115C>T
c.5885C>T (p.Ala1962Val)
c.5879C>T (p.Ala1960Val)
c.5876C>T (p.Ala1959Val)
c.5771C>T (p.Ala1924Val)
c.5768C>T (p.Ala1923Val)
n.5900C>T
n.5815C>T
n.5886C>T
11g.77207342C>ACA475797307MYO7Ac.5796C>A (p.Ala1932=)
c.3623C>A
c.5649C>A (p.Ala1883=)
c.3222C>A (p.Ala1074=)
c.5682C>A (p.Ala1894=)
n.3332C>A
n.710C>A
c.5679C>A (p.Ala1893=)
c.5787C>A (p.Ala1929=)
c.5790C>A (p.Ala1930=)
c.5763C>A (p.Ala1921=)
c.5700C>A (p.Ala1900=)
c.5571C>A (p.Ala1857=)
c.5559C>A (p.Ala1853=)
c.5532C>A (p.Ala1844=)
n.6116C>A
c.5886C>A (p.Ala1962=)
c.5880C>A (p.Ala1960=)
c.5877C>A (p.Ala1959=)
c.5772C>A (p.Ala1924=)
c.5769C>A (p.Ala1923=)
n.5901C>A
n.5816C>A
n.5887C>A
11g.77207342C=CA1984127869MYO7Ac.5796C= (p.Ala1932=)
c.3623C=
c.5649C= (p.Ala1883=)
c.3222C= (p.Ala1074=)
c.5682C= (p.Ala1894=)
n.3332C=
n.710C=
c.5679C= (p.Ala1893=)
c.5787C= (p.Ala1929=)
c.5790C= (p.Ala1930=)
c.5763C= (p.Ala1921=)
c.5700C= (p.Ala1900=)
c.5571C= (p.Ala1857=)
c.5559C= (p.Ala1853=)
c.5532C= (p.Ala1844=)
n.6116C=
c.5886C= (p.Ala1962=)
c.5880C= (p.Ala1960=)
c.5877C= (p.Ala1959=)
c.5772C= (p.Ala1924=)
c.5769C= (p.Ala1923=)
n.5901C=
n.5816C=
n.5887C=
11g.77207342C>GCA475797308MYO7Ac.5796C>G (p.Ala1932=)
c.3623C>G
c.5649C>G (p.Ala1883=)
c.3222C>G (p.Ala1074=)
c.5682C>G (p.Ala1894=)
n.3332C>G
n.710C>G
c.5679C>G (p.Ala1893=)
c.5787C>G (p.Ala1929=)
c.5790C>G (p.Ala1930=)
c.5763C>G (p.Ala1921=)
c.5700C>G (p.Ala1900=)
c.5571C>G (p.Ala1857=)
c.5559C>G (p.Ala1853=)
c.5532C>G (p.Ala1844=)
n.6116C>G
c.5886C>G (p.Ala1962=)
c.5880C>G (p.Ala1960=)
c.5877C>G (p.Ala1959=)
c.5772C>G (p.Ala1924=)
c.5769C>G (p.Ala1923=)
n.5901C>G
n.5816C>G
n.5887C>G
11g.77207342C>TCA475797309MYO7Ac.5796C>T (p.Ala1932=)
c.3623C>T
c.5649C>T (p.Ala1883=)
c.3222C>T (p.Ala1074=)
c.5682C>T (p.Ala1894=)
n.3332C>T
n.710C>T
c.5679C>T (p.Ala1893=)
c.5787C>T (p.Ala1929=)
c.5790C>T (p.Ala1930=)
c.5763C>T (p.Ala1921=)
c.5700C>T (p.Ala1900=)
c.5571C>T (p.Ala1857=)
c.5559C>T (p.Ala1853=)
c.5532C>T (p.Ala1844=)
n.6116C>T
c.5886C>T (p.Ala1962=)
c.5880C>T (p.Ala1960=)
c.5877C>T (p.Ala1959=)
c.5772C>T (p.Ala1924=)
c.5769C>T (p.Ala1923=)
n.5901C>T
n.5816C>T
n.5887C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.77207342_77207343delinsCACA1984127868MYO7Ac.5796_5797delinsCA (p.Ala1932=)
c.3623_3624delinsCA
c.5649_5650delinsCA (p.Ala1883=)
c.3222_3223delinsCA (p.Ala1074=)
c.5682_5683delinsCA (p.Ala1894=)
n.3332_3333delinsCA
n.710_711delinsCA
c.5679_5680delinsCA (p.Ala1893=)
c.5787_5788delinsCA (p.Ala1929=)
c.5790_5791delinsCA (p.Ala1930=)
c.5763_5764delinsCA (p.Ala1921=)
c.5700_5701delinsCA (p.Ala1900=)
c.5571_5572delinsCA (p.Ala1857=)
c.5559_5560delinsCA (p.Ala1853=)
c.5532_5533delinsCA (p.Ala1844=)
n.6116_6117delinsCA
c.5886_5887delinsCA (p.Ala1962=)
c.5880_5881delinsCA (p.Ala1960=)
c.5877_5878delinsCA (p.Ala1959=)
c.5772_5773delinsCA (p.Ala1924=)
c.5769_5770delinsCA (p.Ala1923=)
n.5901_5902delinsCA
n.5816_5817delinsCA
n.5887_5888delinsCA
11g.77207343_77207344delCA912973140MYO7Ac.5797_5798del (p.Thr1933GlnfsTer25)
c.3624_3625del
c.5650_5651del (p.Thr1884GlnfsTer25)
c.3223_3224del (p.Thr1075GlnfsTer25)
c.5683_5684del (p.Thr1895GlnfsTer25)
n.3333_3334del
n.711_712del
c.5680_5681del (p.Thr1894GlnfsTer25)
c.5788_5789del (p.Thr1930GlnfsTer25)
c.5791_5792del (p.Thr1931GlnfsTer25)
c.5764_5765del (p.Thr1922GlnfsTer25)
c.5701_5702del (p.Thr1901GlnfsTer25)
c.5572_5573del (p.Thr1858GlnfsTer25)
c.5560_5561del (p.Thr1854GlnfsTer25)
c.5533_5534del (p.Thr1845GlnfsTer25)
n.6117_6118del
c.5887_5888del (p.Thr1963GlnfsTer25)
c.5881_5882del (p.Thr1961GlnfsTer25)
c.5878_5879del (p.Thr1960GlnfsTer25)
c.5773_5774del (p.Thr1925GlnfsTer25)
c.5770_5771del (p.Thr1924GlnfsTer25)
n.5902_5903del
n.5817_5818del
n.5888_5889del
11g.77207343delCA658822332MYO7Ac.5797del (p.Thr1933ProfsTer?)
c.3624del
c.5650del (p.Thr1884ProfsTer?)
c.3223del (p.Thr1075ProfsTer?)
c.5683del (p.Thr1895ProfsTer?)
n.3333del
n.711del
c.5680del (p.Thr1894ProfsTer?)
c.5788del (p.Thr1930ProfsTer?)
c.5791del (p.Thr1931ProfsTer?)
c.5764del (p.Thr1922ProfsTer?)
c.5701del (p.Thr1901ProfsTer?)
c.5572del (p.Thr1858ProfsTer?)
c.5560del (p.Thr1854ProfsTer?)
c.5533del (p.Thr1845ProfsTer?)
n.6117del
c.5887del (p.Thr1963ProfsTer?)
c.5881del (p.Thr1961ProfsTer?)
c.5878del (p.Thr1960ProfsTer?)
c.5773del (p.Thr1925ProfsTer?)
c.5770del (p.Thr1924ProfsTer?)
n.5902del
n.5817del
n.5888del
 ClinVar dbSNP
11g.77207343A>CCA381954036MYO7Ac.5797A>C (p.Thr1933Pro)
c.3624A>C
c.5650A>C (p.Thr1884Pro)
c.3223A>C (p.Thr1075Pro)
c.5683A>C (p.Thr1895Pro)
n.3333A>C
n.711A>C
c.5680A>C (p.Thr1894Pro)
c.5788A>C (p.Thr1930Pro)
c.5791A>C (p.Thr1931Pro)
c.5764A>C (p.Thr1922Pro)
c.5701A>C (p.Thr1901Pro)
c.5572A>C (p.Thr1858Pro)
c.5560A>C (p.Thr1854Pro)
c.5533A>C (p.Thr1845Pro)
n.6117A>C
c.5887A>C (p.Thr1963Pro)
c.5881A>C (p.Thr1961Pro)
c.5878A>C (p.Thr1960Pro)
c.5773A>C (p.Thr1925Pro)
c.5770A>C (p.Thr1924Pro)
n.5902A>C
n.5817A>C
n.5888A>C
11g.77207343A>GCA381954037MYO7Ac.5797A>G (p.Thr1933Ala)
c.3624A>G
c.5650A>G (p.Thr1884Ala)
c.3223A>G (p.Thr1075Ala)
c.5683A>G (p.Thr1895Ala)
n.3333A>G
n.711A>G
c.5680A>G (p.Thr1894Ala)
c.5788A>G (p.Thr1930Ala)
c.5791A>G (p.Thr1931Ala)
c.5764A>G (p.Thr1922Ala)
c.5701A>G (p.Thr1901Ala)
c.5572A>G (p.Thr1858Ala)
c.5560A>G (p.Thr1854Ala)
c.5533A>G (p.Thr1845Ala)
n.6117A>G
c.5887A>G (p.Thr1963Ala)
c.5881A>G (p.Thr1961Ala)
c.5878A>G (p.Thr1960Ala)
c.5773A>G (p.Thr1925Ala)
c.5770A>G (p.Thr1924Ala)
n.5902A>G
n.5817A>G
n.5888A>G
11g.77207343A>TCA381954038MYO7Ac.5797A>T (p.Thr1933Ser)
c.3624A>T
c.5650A>T (p.Thr1884Ser)
c.3223A>T (p.Thr1075Ser)
c.5683A>T (p.Thr1895Ser)
n.3333A>T
n.711A>T
c.5680A>T (p.Thr1894Ser)
c.5788A>T (p.Thr1930Ser)
c.5791A>T (p.Thr1931Ser)
c.5764A>T (p.Thr1922Ser)
c.5701A>T (p.Thr1901Ser)
c.5572A>T (p.Thr1858Ser)
c.5560A>T (p.Thr1854Ser)
c.5533A>T (p.Thr1845Ser)
n.6117A>T
c.5887A>T (p.Thr1963Ser)
c.5881A>T (p.Thr1961Ser)
c.5878A>T (p.Thr1960Ser)
c.5773A>T (p.Thr1925Ser)
c.5770A>T (p.Thr1924Ser)
n.5902A>T
n.5817A>T
n.5888A>T
11g.77207344C>ACA381954039MYO7Ac.5798C>A (p.Thr1933Asn)
c.3625C>A
c.5651C>A (p.Thr1884Asn)
c.3224C>A (p.Thr1075Asn)
c.5684C>A (p.Thr1895Asn)
n.3334C>A
n.712C>A
c.5681C>A (p.Thr1894Asn)
c.5789C>A (p.Thr1930Asn)
c.5792C>A (p.Thr1931Asn)
c.5765C>A (p.Thr1922Asn)
c.5702C>A (p.Thr1901Asn)
c.5573C>A (p.Thr1858Asn)
c.5561C>A (p.Thr1854Asn)
c.5534C>A (p.Thr1845Asn)
n.6118C>A
c.5888C>A (p.Thr1963Asn)
c.5882C>A (p.Thr1961Asn)
c.5879C>A (p.Thr1960Asn)
c.5774C>A (p.Thr1925Asn)
c.5771C>A (p.Thr1924Asn)
n.5903C>A
n.5818C>A
n.5889C>A
11g.77207344C>GCA381954040MYO7Ac.5798C>G (p.Thr1933Ser)
c.3625C>G
c.5651C>G (p.Thr1884Ser)
c.3224C>G (p.Thr1075Ser)
c.5684C>G (p.Thr1895Ser)
n.3334C>G
n.712C>G
c.5681C>G (p.Thr1894Ser)
c.5789C>G (p.Thr1930Ser)
c.5792C>G (p.Thr1931Ser)
c.5765C>G (p.Thr1922Ser)
c.5702C>G (p.Thr1901Ser)
c.5573C>G (p.Thr1858Ser)
c.5561C>G (p.Thr1854Ser)
c.5534C>G (p.Thr1845Ser)
n.6118C>G
c.5888C>G (p.Thr1963Ser)
c.5882C>G (p.Thr1961Ser)
c.5879C>G (p.Thr1960Ser)
c.5774C>G (p.Thr1925Ser)
c.5771C>G (p.Thr1924Ser)
n.5903C>G
n.5818C>G
n.5889C>G
11g.77207344C>TCA381954041MYO7Ac.5798C>T (p.Thr1933Ile)
c.3625C>T
c.5651C>T (p.Thr1884Ile)
c.3224C>T (p.Thr1075Ile)
c.5684C>T (p.Thr1895Ile)
n.3334C>T
n.712C>T
c.5681C>T (p.Thr1894Ile)
c.5789C>T (p.Thr1930Ile)
c.5792C>T (p.Thr1931Ile)
c.5765C>T (p.Thr1922Ile)
c.5702C>T (p.Thr1901Ile)
c.5573C>T (p.Thr1858Ile)
c.5561C>T (p.Thr1854Ile)
c.5534C>T (p.Thr1845Ile)
n.6118C>T
c.5888C>T (p.Thr1963Ile)
c.5882C>T (p.Thr1961Ile)
c.5879C>T (p.Thr1960Ile)
c.5774C>T (p.Thr1925Ile)
c.5771C>T (p.Thr1924Ile)
n.5903C>T
n.5818C>T
n.5889C>T
11g.77207345C>ACA475797310MYO7Ac.5799C>A (p.Thr1933=)
c.3626C>A
c.5652C>A (p.Thr1884=)
c.3225C>A (p.Thr1075=)
c.5685C>A (p.Thr1895=)
n.3335C>A
n.713C>A
c.5682C>A (p.Thr1894=)
c.5790C>A (p.Thr1930=)
c.5793C>A (p.Thr1931=)
c.5766C>A (p.Thr1922=)
c.5703C>A (p.Thr1901=)
c.5574C>A (p.Thr1858=)
c.5562C>A (p.Thr1854=)
c.5535C>A (p.Thr1845=)
n.6119C>A
c.5889C>A (p.Thr1963=)
c.5883C>A (p.Thr1961=)
c.5880C>A (p.Thr1960=)
c.5775C>A (p.Thr1925=)
c.5772C>A (p.Thr1924=)
n.5904C>A
n.5819C>A
n.5890C>A
11g.77207345C>GCA475797311MYO7Ac.5799C>G (p.Thr1933=)
c.3626C>G
c.5652C>G (p.Thr1884=)
c.3225C>G (p.Thr1075=)
c.5685C>G (p.Thr1895=)
n.3335C>G
n.713C>G
c.5682C>G (p.Thr1894=)
c.5790C>G (p.Thr1930=)
c.5793C>G (p.Thr1931=)
c.5766C>G (p.Thr1922=)
c.5703C>G (p.Thr1901=)
c.5574C>G (p.Thr1858=)
c.5562C>G (p.Thr1854=)
c.5535C>G (p.Thr1845=)
n.6119C>G
c.5889C>G (p.Thr1963=)
c.5883C>G (p.Thr1961=)
c.5880C>G (p.Thr1960=)
c.5775C>G (p.Thr1925=)
c.5772C>G (p.Thr1924=)
n.5904C>G
n.5819C>G
n.5890C>G
11g.77207345C>TCA475797312MYO7Ac.5799C>T (p.Thr1933=)
c.3626C>T
c.5652C>T (p.Thr1884=)
c.3225C>T (p.Thr1075=)
c.5685C>T (p.Thr1895=)
n.3335C>T
n.713C>T
c.5682C>T (p.Thr1894=)
c.5790C>T (p.Thr1930=)
c.5793C>T (p.Thr1931=)
c.5766C>T (p.Thr1922=)
c.5703C>T (p.Thr1901=)
c.5574C>T (p.Thr1858=)
c.5562C>T (p.Thr1854=)
c.5535C>T (p.Thr1845=)
n.6119C>T
c.5889C>T (p.Thr1963=)
c.5883C>T (p.Thr1961=)
c.5880C>T (p.Thr1960=)
c.5775C>T (p.Thr1925=)
c.5772C>T (p.Thr1924=)
n.5904C>T
n.5819C>T
n.5890C>T
 ClinVar
11g.77207346A>CCA475797313MYO7Ac.5800A>C (p.Arg1934=)
c.3627A>C
c.5653A>C (p.Arg1885=)
c.3226A>C (p.Arg1076=)
c.5686A>C (p.Arg1896=)
n.3336A>C
n.714A>C
c.5683A>C (p.Arg1895=)
c.5791A>C (p.Arg1931=)
c.5794A>C (p.Arg1932=)
c.5767A>C (p.Arg1923=)
c.5704A>C (p.Arg1902=)
c.5575A>C (p.Arg1859=)
c.5563A>C (p.Arg1855=)
c.5536A>C (p.Arg1846=)
n.6120A>C
c.5890A>C (p.Arg1964=)
c.5884A>C (p.Arg1962=)
c.5881A>C (p.Arg1961=)
c.5776A>C (p.Arg1926=)
c.5773A>C (p.Arg1925=)
n.5905A>C
n.5820A>C
n.5891A>C
11g.77207346A>GCA381954042MYO7Ac.5800A>G (p.Arg1934Gly)
c.3627A>G
c.5653A>G (p.Arg1885Gly)
c.3226A>G (p.Arg1076Gly)
c.5686A>G (p.Arg1896Gly)
n.3336A>G
n.714A>G
c.5683A>G (p.Arg1895Gly)
c.5791A>G (p.Arg1931Gly)
c.5794A>G (p.Arg1932Gly)
c.5767A>G (p.Arg1923Gly)
c.5704A>G (p.Arg1902Gly)
c.5575A>G (p.Arg1859Gly)
c.5563A>G (p.Arg1855Gly)
c.5536A>G (p.Arg1846Gly)
n.6120A>G
c.5890A>G (p.Arg1964Gly)
c.5884A>G (p.Arg1962Gly)
c.5881A>G (p.Arg1961Gly)
c.5776A>G (p.Arg1926Gly)
c.5773A>G (p.Arg1925Gly)
n.5905A>G
n.5820A>G
n.5891A>G
11g.77207346A>TCA381954043MYO7Ac.5800A>T (p.Arg1934Trp)
c.3627A>T
c.5653A>T (p.Arg1885Trp)
c.3226A>T (p.Arg1076Trp)
c.5686A>T (p.Arg1896Trp)
n.3336A>T
n.714A>T
c.5683A>T (p.Arg1895Trp)
c.5791A>T (p.Arg1931Trp)
c.5794A>T (p.Arg1932Trp)
c.5767A>T (p.Arg1923Trp)
c.5704A>T (p.Arg1902Trp)
c.5575A>T (p.Arg1859Trp)
c.5563A>T (p.Arg1855Trp)
c.5536A>T (p.Arg1846Trp)
n.6120A>T
c.5890A>T (p.Arg1964Trp)
c.5884A>T (p.Arg1962Trp)
c.5881A>T (p.Arg1961Trp)
c.5776A>T (p.Arg1926Trp)
c.5773A>T (p.Arg1925Trp)
n.5905A>T
n.5820A>T
n.5891A>T
11g.77207347G>ACA381954046MYO7Ac.5801G>A (p.Arg1934Lys)
c.3628G>A
c.5654G>A (p.Arg1885Lys)
c.3227G>A (p.Arg1076Lys)
c.5687G>A (p.Arg1896Lys)
n.3337G>A
n.715G>A
c.5684G>A (p.Arg1895Lys)
c.5792G>A (p.Arg1931Lys)
c.5795G>A (p.Arg1932Lys)
c.5768G>A (p.Arg1923Lys)
c.5705G>A (p.Arg1902Lys)
c.5576G>A (p.Arg1859Lys)
c.5564G>A (p.Arg1855Lys)
c.5537G>A (p.Arg1846Lys)
n.6121G>A
c.5891G>A (p.Arg1964Lys)
c.5885G>A (p.Arg1962Lys)
c.5882G>A (p.Arg1961Lys)
c.5777G>A (p.Arg1926Lys)
c.5774G>A (p.Arg1925Lys)
n.5906G>A
n.5821G>A
n.5892G>A
 dbSNP
11g.77207347G>CCA381954045MYO7Ac.5801G>C (p.Arg1934Thr)
c.3628G>C
c.5654G>C (p.Arg1885Thr)
c.3227G>C (p.Arg1076Thr)
c.5687G>C (p.Arg1896Thr)
n.3337G>C
n.715G>C
c.5684G>C (p.Arg1895Thr)
c.5792G>C (p.Arg1931Thr)
c.5795G>C (p.Arg1932Thr)
c.5768G>C (p.Arg1923Thr)
c.5705G>C (p.Arg1902Thr)
c.5576G>C (p.Arg1859Thr)
c.5564G>C (p.Arg1855Thr)
c.5537G>C (p.Arg1846Thr)
n.6121G>C
c.5891G>C (p.Arg1964Thr)
c.5885G>C (p.Arg1962Thr)
c.5882G>C (p.Arg1961Thr)
c.5777G>C (p.Arg1926Thr)
c.5774G>C (p.Arg1925Thr)
n.5906G>C
n.5821G>C
n.5892G>C
11g.77207347G=CA1984127870MYO7Ac.5801G= (p.Arg1934=)
c.3628G=
c.5654G= (p.Arg1885=)
c.3227G= (p.Arg1076=)
c.5687G= (p.Arg1896=)
n.3337G=
n.715G=
c.5684G= (p.Arg1895=)
c.5792G= (p.Arg1931=)
c.5795G= (p.Arg1932=)
c.5768G= (p.Arg1923=)
c.5705G= (p.Arg1902=)
c.5576G= (p.Arg1859=)
c.5564G= (p.Arg1855=)
c.5537G= (p.Arg1846=)
n.6121G=
c.5891G= (p.Arg1964=)
c.5885G= (p.Arg1962=)
c.5882G= (p.Arg1961=)
c.5777G= (p.Arg1926=)
c.5774G= (p.Arg1925=)
n.5906G=
n.5821G=
n.5892G=
11g.77207347G>TCA381954044MYO7Ac.5801G>T (p.Arg1934Met)
c.3628G>T
c.5654G>T (p.Arg1885Met)
c.3227G>T (p.Arg1076Met)
c.5687G>T (p.Arg1896Met)
n.3337G>T
n.715G>T
c.5684G>T (p.Arg1895Met)
c.5792G>T (p.Arg1931Met)
c.5795G>T (p.Arg1932Met)
c.5768G>T (p.Arg1923Met)
c.5705G>T (p.Arg1902Met)
c.5576G>T (p.Arg1859Met)
c.5564G>T (p.Arg1855Met)
c.5537G>T (p.Arg1846Met)
n.6121G>T
c.5891G>T (p.Arg1964Met)
c.5885G>T (p.Arg1962Met)
c.5882G>T (p.Arg1961Met)
c.5777G>T (p.Arg1926Met)
c.5774G>T (p.Arg1925Met)
n.5906G>T
n.5821G>T
n.5892G>T
11g.77207348G>ACA475797314MYO7Ac.5802G>A (p.Arg1934=)
c.3629G>A
c.5655G>A (p.Arg1885=)
c.3228G>A (p.Arg1076=)
c.5688G>A (p.Arg1896=)
n.3338G>A
n.716G>A
c.5685G>A (p.Arg1895=)
c.5793G>A (p.Arg1931=)
c.5796G>A (p.Arg1932=)
c.5769G>A (p.Arg1923=)
c.5706G>A (p.Arg1902=)
c.5577G>A (p.Arg1859=)
c.5565G>A (p.Arg1855=)
c.5538G>A (p.Arg1846=)
n.6122G>A
c.5892G>A (p.Arg1964=)
c.5886G>A (p.Arg1962=)
c.5883G>A (p.Arg1961=)
c.5778G>A (p.Arg1926=)
c.5775G>A (p.Arg1925=)
n.5907G>A
n.5822G>A
n.5893G>A
11g.77207348G>CCA381954047MYO7Ac.5802G>C (p.Arg1934Ser)
c.3629G>C
c.5655G>C (p.Arg1885Ser)
c.3228G>C (p.Arg1076Ser)
c.5688G>C (p.Arg1896Ser)
n.3338G>C
n.716G>C
c.5685G>C (p.Arg1895Ser)
c.5793G>C (p.Arg1931Ser)
c.5796G>C (p.Arg1932Ser)
c.5769G>C (p.Arg1923Ser)
c.5706G>C (p.Arg1902Ser)
c.5577G>C (p.Arg1859Ser)
c.5565G>C (p.Arg1855Ser)
c.5538G>C (p.Arg1846Ser)
n.6122G>C
c.5892G>C (p.Arg1964Ser)
c.5886G>C (p.Arg1962Ser)
c.5883G>C (p.Arg1961Ser)
c.5778G>C (p.Arg1926Ser)
c.5775G>C (p.Arg1925Ser)
n.5907G>C
n.5822G>C
n.5893G>C
11g.77207348G>TCA381954048MYO7Ac.5802G>T (p.Arg1934Ser)
c.3629G>T
c.5655G>T (p.Arg1885Ser)
c.3228G>T (p.Arg1076Ser)
c.5688G>T (p.Arg1896Ser)
n.3338G>T
n.716G>T
c.5685G>T (p.Arg1895Ser)
c.5793G>T (p.Arg1931Ser)
c.5796G>T (p.Arg1932Ser)
c.5769G>T (p.Arg1923Ser)
c.5706G>T (p.Arg1902Ser)
c.5577G>T (p.Arg1859Ser)
c.5565G>T (p.Arg1855Ser)
c.5538G>T (p.Arg1846Ser)
n.6122G>T
c.5892G>T (p.Arg1964Ser)
c.5886G>T (p.Arg1962Ser)
c.5883G>T (p.Arg1961Ser)
c.5778G>T (p.Arg1926Ser)
c.5775G>T (p.Arg1925Ser)
n.5907G>T
n.5822G>T
n.5893G>T
11g.77207349C>ACA381954049MYO7Ac.5803C>A (p.Leu1935Met)
c.3630C>A
c.5656C>A (p.Leu1886Met)
c.3229C>A (p.Leu1077Met)
c.5689C>A (p.Leu1897Met)
n.3339C>A
n.717C>A
c.5686C>A (p.Leu1896Met)
c.5794C>A (p.Leu1932Met)
c.5797C>A (p.Leu1933Met)
c.5770C>A (p.Leu1924Met)
c.5707C>A (p.Leu1903Met)
c.5578C>A (p.Leu1860Met)
c.5566C>A (p.Leu1856Met)
c.5539C>A (p.Leu1847Met)
n.6123C>A
c.5893C>A (p.Leu1965Met)
c.5887C>A (p.Leu1963Met)
c.5884C>A (p.Leu1962Met)
c.5779C>A (p.Leu1927Met)
c.5776C>A (p.Leu1926Met)
n.5908C>A
n.5823C>A
n.5894C>A
11g.77207349C>GCA381954050MYO7Ac.5803C>G (p.Leu1935Val)
c.3630C>G
c.5656C>G (p.Leu1886Val)
c.3229C>G (p.Leu1077Val)
c.5689C>G (p.Leu1897Val)
n.3339C>G
n.717C>G
c.5686C>G (p.Leu1896Val)
c.5794C>G (p.Leu1932Val)
c.5797C>G (p.Leu1933Val)
c.5770C>G (p.Leu1924Val)
c.5707C>G (p.Leu1903Val)
c.5578C>G (p.Leu1860Val)
c.5566C>G (p.Leu1856Val)
c.5539C>G (p.Leu1847Val)
n.6123C>G
c.5893C>G (p.Leu1965Val)
c.5887C>G (p.Leu1963Val)
c.5884C>G (p.Leu1962Val)
c.5779C>G (p.Leu1927Val)
c.5776C>G (p.Leu1926Val)
n.5908C>G
n.5823C>G
n.5894C>G
11g.77207349C>TCA475797315MYO7Ac.5803C>T (p.Leu1935=)
c.3630C>T
c.5656C>T (p.Leu1886=)
c.3229C>T (p.Leu1077=)
c.5689C>T (p.Leu1897=)
n.3339C>T
n.717C>T
c.5686C>T (p.Leu1896=)
c.5794C>T (p.Leu1932=)
c.5797C>T (p.Leu1933=)
c.5770C>T (p.Leu1924=)
c.5707C>T (p.Leu1903=)
c.5578C>T (p.Leu1860=)
c.5566C>T (p.Leu1856=)
c.5539C>T (p.Leu1847=)
n.6123C>T
c.5893C>T (p.Leu1965=)
c.5887C>T (p.Leu1963=)
c.5884C>T (p.Leu1962=)
c.5779C>T (p.Leu1927=)
c.5776C>T (p.Leu1926=)
n.5908C>T
n.5823C>T
n.5894C>T
 ClinVar dbSNP
11g.77207350T>ACA381954051MYO7Ac.5804T>A (p.Leu1935Gln)
c.3631T>A
c.5657T>A (p.Leu1886Gln)
c.3230T>A (p.Leu1077Gln)
c.5690T>A (p.Leu1897Gln)
n.3340T>A
n.718T>A
c.5687T>A (p.Leu1896Gln)
c.5795T>A (p.Leu1932Gln)
c.5798T>A (p.Leu1933Gln)
c.5771T>A (p.Leu1924Gln)
c.5708T>A (p.Leu1903Gln)
c.5579T>A (p.Leu1860Gln)
c.5567T>A (p.Leu1856Gln)
c.5540T>A (p.Leu1847Gln)
n.6124T>A
c.5894T>A (p.Leu1965Gln)
c.5888T>A (p.Leu1963Gln)
c.5885T>A (p.Leu1962Gln)
c.5780T>A (p.Leu1927Gln)
c.5777T>A (p.Leu1926Gln)
n.5909T>A
n.5824T>A
n.5895T>A
11g.77207350T>CCA278691MYO7Ac.5804T>C (p.Leu1935Pro)
c.3631T>C
c.5657T>C (p.Leu1886Pro)
c.3230T>C (p.Leu1077Pro)
c.5690T>C (p.Leu1897Pro)
n.3340T>C
n.718T>C
c.5687T>C (p.Leu1896Pro)
c.5795T>C (p.Leu1932Pro)
c.5798T>C (p.Leu1933Pro)
c.5771T>C (p.Leu1924Pro)
c.5708T>C (p.Leu1903Pro)
c.5579T>C (p.Leu1860Pro)
c.5567T>C (p.Leu1856Pro)
c.5540T>C (p.Leu1847Pro)
n.6124T>C
c.5894T>C (p.Leu1965Pro)
c.5888T>C (p.Leu1963Pro)
c.5885T>C (p.Leu1962Pro)
c.5780T>C (p.Leu1927Pro)
c.5777T>C (p.Leu1926Pro)
n.5909T>C
n.5824T>C
n.5895T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77207350T>GCA381954052MYO7Ac.5804T>G (p.Leu1935Arg)
c.3631T>G
c.5657T>G (p.Leu1886Arg)
c.3230T>G (p.Leu1077Arg)
c.5690T>G (p.Leu1897Arg)
n.3340T>G
n.718T>G
c.5687T>G (p.Leu1896Arg)
c.5795T>G (p.Leu1932Arg)
c.5798T>G (p.Leu1933Arg)
c.5771T>G (p.Leu1924Arg)
c.5708T>G (p.Leu1903Arg)
c.5579T>G (p.Leu1860Arg)
c.5567T>G (p.Leu1856Arg)
c.5540T>G (p.Leu1847Arg)
n.6124T>G
c.5894T>G (p.Leu1965Arg)
c.5888T>G (p.Leu1963Arg)
c.5885T>G (p.Leu1962Arg)
c.5780T>G (p.Leu1927Arg)
c.5777T>G (p.Leu1926Arg)
n.5909T>G
n.5824T>G
n.5895T>G
11g.77207350T=CA1984127871MYO7Ac.5804T= (p.Leu1935=)
c.3631T=
c.5657T= (p.Leu1886=)
c.3230T= (p.Leu1077=)
c.5690T= (p.Leu1897=)
n.3340T=
n.718T=
c.5687T= (p.Leu1896=)
c.5795T= (p.Leu1932=)
c.5798T= (p.Leu1933=)
c.5771T= (p.Leu1924=)
c.5708T= (p.Leu1903=)
c.5579T= (p.Leu1860=)
c.5567T= (p.Leu1856=)
c.5540T= (p.Leu1847=)
n.6124T=
c.5894T= (p.Leu1965=)
c.5888T= (p.Leu1963=)
c.5885T= (p.Leu1962=)
c.5780T= (p.Leu1927=)
c.5777T= (p.Leu1926=)
n.5909T=
n.5824T=
n.5895T=
11g.77207351G>ACA475797316MYO7Ac.5805G>A (p.Leu1935=)
c.3632G>A
c.5658G>A (p.Leu1886=)
c.3231G>A (p.Leu1077=)
c.5691G>A (p.Leu1897=)
n.3341G>A
n.719G>A
c.5688G>A (p.Leu1896=)
c.5796G>A (p.Leu1932=)
c.5799G>A (p.Leu1933=)
c.5772G>A (p.Leu1924=)
c.5709G>A (p.Leu1903=)
c.5580G>A (p.Leu1860=)
c.5568G>A (p.Leu1856=)
c.5541G>A (p.Leu1847=)
n.6125G>A
c.5895G>A (p.Leu1965=)
c.5889G>A (p.Leu1963=)
c.5886G>A (p.Leu1962=)
c.5781G>A (p.Leu1927=)
c.5778G>A (p.Leu1926=)
n.5910G>A
n.5825G>A
n.5896G>A
11g.77207351G>CCA475797317MYO7Ac.5805G>C (p.Leu1935=)
c.3632G>C
c.5658G>C (p.Leu1886=)
c.3231G>C (p.Leu1077=)
c.5691G>C (p.Leu1897=)
n.3341G>C
n.719G>C
c.5688G>C (p.Leu1896=)
c.5796G>C (p.Leu1932=)
c.5799G>C (p.Leu1933=)
c.5772G>C (p.Leu1924=)
c.5709G>C (p.Leu1903=)
c.5580G>C (p.Leu1860=)
c.5568G>C (p.Leu1856=)
c.5541G>C (p.Leu1847=)
n.6125G>C
c.5895G>C (p.Leu1965=)
c.5889G>C (p.Leu1963=)
c.5886G>C (p.Leu1962=)
c.5781G>C (p.Leu1927=)
c.5778G>C (p.Leu1926=)
n.5910G>C
n.5825G>C
n.5896G>C
11g.77207351G>TCA475797318MYO7Ac.5805G>T (p.Leu1935=)
c.3632G>T
c.5658G>T (p.Leu1886=)
c.3231G>T (p.Leu1077=)
c.5691G>T (p.Leu1897=)
n.3341G>T
n.719G>T
c.5688G>T (p.Leu1896=)
c.5796G>T (p.Leu1932=)
c.5799G>T (p.Leu1933=)
c.5772G>T (p.Leu1924=)
c.5709G>T (p.Leu1903=)
c.5580G>T (p.Leu1860=)
c.5568G>T (p.Leu1856=)
c.5541G>T (p.Leu1847=)
n.6125G>T
c.5895G>T (p.Leu1965=)
c.5889G>T (p.Leu1963=)
c.5886G>T (p.Leu1962=)
c.5781G>T (p.Leu1927=)
c.5778G>T (p.Leu1926=)
n.5910G>T
n.5825G>T
n.5896G>T
11g.77207352C>ACA381954053MYO7Ac.5806C>A (p.Leu1936Ile)
c.3633C>A
c.5659C>A (p.Leu1887Ile)
c.3232C>A (p.Leu1078Ile)
c.5692C>A (p.Leu1898Ile)
n.3342C>A
n.720C>A
c.5689C>A (p.Leu1897Ile)
c.5797C>A (p.Leu1933Ile)
c.5800C>A (p.Leu1934Ile)
c.5773C>A (p.Leu1925Ile)
c.5710C>A (p.Leu1904Ile)
c.5581C>A (p.Leu1861Ile)
c.5569C>A (p.Leu1857Ile)
c.5542C>A (p.Leu1848Ile)
n.6126C>A
c.5896C>A (p.Leu1966Ile)
c.5890C>A (p.Leu1964Ile)
c.5887C>A (p.Leu1963Ile)
c.5782C>A (p.Leu1928Ile)
c.5779C>A (p.Leu1927Ile)
n.5911C>A
n.5826C>A
n.5897C>A
 dbSNP
11g.77207352C=CA1984127872MYO7Ac.5806C= (p.Leu1936=)
c.3633C=
c.5659C= (p.Leu1887=)
c.3232C= (p.Leu1078=)
c.5692C= (p.Leu1898=)
n.3342C=
n.720C=
c.5689C= (p.Leu1897=)
c.5797C= (p.Leu1933=)
c.5800C= (p.Leu1934=)
c.5773C= (p.Leu1925=)
c.5710C= (p.Leu1904=)
c.5581C= (p.Leu1861=)
c.5569C= (p.Leu1857=)
c.5542C= (p.Leu1848=)
n.6126C=
c.5896C= (p.Leu1966=)
c.5890C= (p.Leu1964=)
c.5887C= (p.Leu1963=)
c.5782C= (p.Leu1928=)
c.5779C= (p.Leu1927=)
n.5911C=
n.5826C=
n.5897C=
11g.77207352C>GCA381954054MYO7Ac.5806C>G (p.Leu1936Val)
c.3633C>G
c.5659C>G (p.Leu1887Val)
c.3232C>G (p.Leu1078Val)
c.5692C>G (p.Leu1898Val)
n.3342C>G
n.720C>G
c.5689C>G (p.Leu1897Val)
c.5797C>G (p.Leu1933Val)
c.5800C>G (p.Leu1934Val)
c.5773C>G (p.Leu1925Val)
c.5710C>G (p.Leu1904Val)
c.5581C>G (p.Leu1861Val)
c.5569C>G (p.Leu1857Val)
c.5542C>G (p.Leu1848Val)
n.6126C>G
c.5896C>G (p.Leu1966Val)
c.5890C>G (p.Leu1964Val)
c.5887C>G (p.Leu1963Val)
c.5782C>G (p.Leu1928Val)
c.5779C>G (p.Leu1927Val)
n.5911C>G
n.5826C>G
n.5897C>G
11g.77207352C>TCA224854994MYO7Ac.5806C>T (p.Leu1936Phe)
c.3633C>T
c.5659C>T (p.Leu1887Phe)
c.3232C>T (p.Leu1078Phe)
c.5692C>T (p.Leu1898Phe)
n.3342C>T
n.720C>T
c.5689C>T (p.Leu1897Phe)
c.5797C>T (p.Leu1933Phe)
c.5800C>T (p.Leu1934Phe)
c.5773C>T (p.Leu1925Phe)
c.5710C>T (p.Leu1904Phe)
c.5581C>T (p.Leu1861Phe)
c.5569C>T (p.Leu1857Phe)
c.5542C>T (p.Leu1848Phe)
n.6126C>T
c.5896C>T (p.Leu1966Phe)
c.5890C>T (p.Leu1964Phe)
c.5887C>T (p.Leu1963Phe)
c.5782C>T (p.Leu1928Phe)
c.5779C>T (p.Leu1927Phe)
n.5911C>T
n.5826C>T
n.5897C>T
 dbSNP gnomAD v3 gnomAD v4
11g.77207355_77207357delCA2695215060MYO7Ac.5809_5811del (p.Leu1937del)
c.3636_3638del
c.5662_5664del (p.Leu1888del)
c.3235_3237del (p.Leu1079del)
c.5695_5697del (p.Leu1899del)
n.3345_3347del
n.723_725del
c.5692_5694del (p.Leu1898del)
c.5800_5802del (p.Leu1934del)
c.5803_5805del (p.Leu1935del)
c.5776_5778del (p.Leu1926del)
c.5713_5715del (p.Leu1905del)
c.5584_5586del (p.Leu1862del)
c.5572_5574del (p.Leu1858del)
c.5545_5547del (p.Leu1849del)
n.6129_6131del
c.5899_5901del (p.Leu1967del)
c.5893_5895del (p.Leu1965del)
c.5890_5892del (p.Leu1964del)
c.5785_5787del (p.Leu1929del)
c.5782_5784del (p.Leu1928del)
n.5914_5916del
n.5829_5831del
n.5900_5902del
11g.77207353T>ACA381954055MYO7Ac.5807T>A (p.Leu1936His)
c.3634T>A
c.5660T>A (p.Leu1887His)
c.3233T>A (p.Leu1078His)
c.5693T>A (p.Leu1898His)
n.3343T>A
n.721T>A
c.5690T>A (p.Leu1897His)
c.5798T>A (p.Leu1933His)
c.5801T>A (p.Leu1934His)
c.5774T>A (p.Leu1925His)
c.5711T>A (p.Leu1904His)
c.5582T>A (p.Leu1861His)
c.5570T>A (p.Leu1857His)
c.5543T>A (p.Leu1848His)
n.6127T>A
c.5897T>A (p.Leu1966His)
c.5891T>A (p.Leu1964His)
c.5888T>A (p.Leu1963His)
c.5783T>A (p.Leu1928His)
c.5780T>A (p.Leu1927His)
n.5912T>A
n.5827T>A
n.5898T>A
11g.77207353T>CCA381954056MYO7Ac.5807T>C (p.Leu1936Pro)
c.3634T>C
c.5660T>C (p.Leu1887Pro)
c.3233T>C (p.Leu1078Pro)
c.5693T>C (p.Leu1898Pro)
n.3343T>C
n.721T>C
c.5690T>C (p.Leu1897Pro)
c.5798T>C (p.Leu1933Pro)
c.5801T>C (p.Leu1934Pro)
c.5774T>C (p.Leu1925Pro)
c.5711T>C (p.Leu1904Pro)
c.5582T>C (p.Leu1861Pro)
c.5570T>C (p.Leu1857Pro)
c.5543T>C (p.Leu1848Pro)
n.6127T>C
c.5897T>C (p.Leu1966Pro)
c.5891T>C (p.Leu1964Pro)
c.5888T>C (p.Leu1963Pro)
c.5783T>C (p.Leu1928Pro)
c.5780T>C (p.Leu1927Pro)
n.5912T>C
n.5827T>C
n.5898T>C
11g.77207353T>GCA381954057MYO7Ac.5807T>G (p.Leu1936Arg)
c.3634T>G
c.5660T>G (p.Leu1887Arg)
c.3233T>G (p.Leu1078Arg)
c.5693T>G (p.Leu1898Arg)
n.3343T>G
n.721T>G
c.5690T>G (p.Leu1897Arg)
c.5798T>G (p.Leu1933Arg)
c.5801T>G (p.Leu1934Arg)
c.5774T>G (p.Leu1925Arg)
c.5711T>G (p.Leu1904Arg)
c.5582T>G (p.Leu1861Arg)
c.5570T>G (p.Leu1857Arg)
c.5543T>G (p.Leu1848Arg)
n.6127T>G
c.5897T>G (p.Leu1966Arg)
c.5891T>G (p.Leu1964Arg)
c.5888T>G (p.Leu1963Arg)
c.5783T>G (p.Leu1928Arg)
c.5780T>G (p.Leu1927Arg)
n.5912T>G
n.5827T>G
n.5898T>G
11g.77207354C>ACA475797319MYO7Ac.5808C>A (p.Leu1936=)
c.3635C>A
c.5661C>A (p.Leu1887=)
c.3234C>A (p.Leu1078=)
c.5694C>A (p.Leu1898=)
n.3344C>A
n.722C>A
c.5691C>A (p.Leu1897=)
c.5799C>A (p.Leu1933=)
c.5802C>A (p.Leu1934=)
c.5775C>A (p.Leu1925=)
c.5712C>A (p.Leu1904=)
c.5583C>A (p.Leu1861=)
c.5571C>A (p.Leu1857=)
c.5544C>A (p.Leu1848=)
n.6128C>A
c.5898C>A (p.Leu1966=)
c.5892C>A (p.Leu1964=)
c.5889C>A (p.Leu1963=)
c.5784C>A (p.Leu1928=)
c.5781C>A (p.Leu1927=)
n.5913C>A
n.5828C>A
n.5899C>A
11g.77207354C=CA1984127873MYO7Ac.5808C= (p.Leu1936=)
c.3635C=
c.5661C= (p.Leu1887=)
c.3234C= (p.Leu1078=)
c.5694C= (p.Leu1898=)
n.3344C=
n.722C=
c.5691C= (p.Leu1897=)
c.5799C= (p.Leu1933=)
c.5802C= (p.Leu1934=)
c.5775C= (p.Leu1925=)
c.5712C= (p.Leu1904=)
c.5583C= (p.Leu1861=)
c.5571C= (p.Leu1857=)
c.5544C= (p.Leu1848=)
n.6128C=
c.5898C= (p.Leu1966=)
c.5892C= (p.Leu1964=)
c.5889C= (p.Leu1963=)
c.5784C= (p.Leu1928=)
c.5781C= (p.Leu1927=)
n.5913C=
n.5828C=
n.5899C=
11g.77207354C>GCA475797320MYO7Ac.5808C>G (p.Leu1936=)
c.3635C>G
c.5661C>G (p.Leu1887=)
c.3234C>G (p.Leu1078=)
c.5694C>G (p.Leu1898=)
n.3344C>G
n.722C>G
c.5691C>G (p.Leu1897=)
c.5799C>G (p.Leu1933=)
c.5802C>G (p.Leu1934=)
c.5775C>G (p.Leu1925=)
c.5712C>G (p.Leu1904=)
c.5583C>G (p.Leu1861=)
c.5571C>G (p.Leu1857=)
c.5544C>G (p.Leu1848=)
n.6128C>G
c.5898C>G (p.Leu1966=)
c.5892C>G (p.Leu1964=)
c.5889C>G (p.Leu1963=)
c.5784C>G (p.Leu1928=)
c.5781C>G (p.Leu1927=)
n.5913C>G
n.5828C>G
n.5899C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77207354C>TCA475797321MYO7Ac.5808C>T (p.Leu1936=)
c.3635C>T
c.5661C>T (p.Leu1887=)
c.3234C>T (p.Leu1078=)
c.5694C>T (p.Leu1898=)
n.3344C>T
n.722C>T
c.5691C>T (p.Leu1897=)
c.5799C>T (p.Leu1933=)
c.5802C>T (p.Leu1934=)
c.5775C>T (p.Leu1925=)
c.5712C>T (p.Leu1904=)
c.5583C>T (p.Leu1861=)
c.5571C>T (p.Leu1857=)
c.5544C>T (p.Leu1848=)
n.6128C>T
c.5898C>T (p.Leu1966=)
c.5892C>T (p.Leu1964=)
c.5889C>T (p.Leu1963=)
c.5784C>T (p.Leu1928=)
c.5781C>T (p.Leu1927=)
n.5913C>T
n.5828C>T
n.5899C>T
11g.77207355C>ACA381954059MYO7Ac.5809C>A (p.Leu1937Ile)
c.3636C>A
c.5662C>A (p.Leu1888Ile)
c.3235C>A (p.Leu1079Ile)
c.5695C>A (p.Leu1899Ile)
n.3345C>A
n.723C>A
c.5692C>A (p.Leu1898Ile)
c.5800C>A (p.Leu1934Ile)
c.5803C>A (p.Leu1935Ile)
c.5776C>A (p.Leu1926Ile)
c.5713C>A (p.Leu1905Ile)
c.5584C>A (p.Leu1862Ile)
c.5572C>A (p.Leu1858Ile)
c.5545C>A (p.Leu1849Ile)
n.6129C>A
c.5899C>A (p.Leu1967Ile)
c.5893C>A (p.Leu1965Ile)
c.5890C>A (p.Leu1964Ile)
c.5785C>A (p.Leu1929Ile)
c.5782C>A (p.Leu1928Ile)
n.5914C>A
n.5829C>A
n.5900C>A
11g.77207355C=CA1984127874MYO7Ac.5809C= (p.Leu1937=)
c.3636C=
c.5662C= (p.Leu1888=)
c.3235C= (p.Leu1079=)
c.5695C= (p.Leu1899=)
n.3345C=
n.723C=
c.5692C= (p.Leu1898=)
c.5800C= (p.Leu1934=)
c.5803C= (p.Leu1935=)
c.5776C= (p.Leu1926=)
c.5713C= (p.Leu1905=)
c.5584C= (p.Leu1862=)
c.5572C= (p.Leu1858=)
c.5545C= (p.Leu1849=)
n.6129C=
c.5899C= (p.Leu1967=)
c.5893C= (p.Leu1965=)
c.5890C= (p.Leu1964=)
c.5785C= (p.Leu1929=)
c.5782C= (p.Leu1928=)
n.5914C=
n.5829C=
n.5900C=
11g.77207355C>GCA381954060MYO7Ac.5809C>G (p.Leu1937Val)
c.3636C>G
c.5662C>G (p.Leu1888Val)
c.3235C>G (p.Leu1079Val)
c.5695C>G (p.Leu1899Val)
n.3345C>G
n.723C>G
c.5692C>G (p.Leu1898Val)
c.5800C>G (p.Leu1934Val)
c.5803C>G (p.Leu1935Val)
c.5776C>G (p.Leu1926Val)
c.5713C>G (p.Leu1905Val)
c.5584C>G (p.Leu1862Val)
c.5572C>G (p.Leu1858Val)
c.5545C>G (p.Leu1849Val)
n.6129C>G
c.5899C>G (p.Leu1967Val)
c.5893C>G (p.Leu1965Val)
c.5890C>G (p.Leu1964Val)
c.5785C>G (p.Leu1929Val)
c.5782C>G (p.Leu1928Val)
n.5914C>G
n.5829C>G
n.5900C>G
11g.77207355C>TCA381954058MYO7Ac.5809C>T (p.Leu1937Phe)
c.3636C>T
c.5662C>T (p.Leu1888Phe)
c.3235C>T (p.Leu1079Phe)
c.5695C>T (p.Leu1899Phe)
n.3345C>T
n.723C>T
c.5692C>T (p.Leu1898Phe)
c.5800C>T (p.Leu1934Phe)
c.5803C>T (p.Leu1935Phe)
c.5776C>T (p.Leu1926Phe)
c.5713C>T (p.Leu1905Phe)
c.5584C>T (p.Leu1862Phe)
c.5572C>T (p.Leu1858Phe)
c.5545C>T (p.Leu1849Phe)
n.6129C>T
c.5899C>T (p.Leu1967Phe)
c.5893C>T (p.Leu1965Phe)
c.5890C>T (p.Leu1964Phe)
c.5785C>T (p.Leu1929Phe)
c.5782C>T (p.Leu1928Phe)
n.5914C>T
n.5829C>T
n.5900C>T
 ClinVar dbSNP gnomAD v4
11g.77207356T>ACA381954063MYO7Ac.5810T>A (p.Leu1937His)
c.3637T>A
c.5663T>A (p.Leu1888His)
c.3236T>A (p.Leu1079His)
c.5696T>A (p.Leu1899His)
n.3346T>A
n.724T>A
c.5693T>A (p.Leu1898His)
c.5801T>A (p.Leu1934His)
c.5804T>A (p.Leu1935His)
c.5777T>A (p.Leu1926His)
c.5714T>A (p.Leu1905His)
c.5585T>A (p.Leu1862His)
c.5573T>A (p.Leu1858His)
c.5546T>A (p.Leu1849His)
n.6130T>A
c.5900T>A (p.Leu1967His)
c.5894T>A (p.Leu1965His)
c.5891T>A (p.Leu1964His)
c.5786T>A (p.Leu1929His)
c.5783T>A (p.Leu1928His)
n.5915T>A
n.5830T>A
n.5901T>A
11g.77207356T>CCA381954061MYO7Ac.5810T>C (p.Leu1937Pro)
c.3637T>C
c.5663T>C (p.Leu1888Pro)
c.3236T>C (p.Leu1079Pro)
c.5696T>C (p.Leu1899Pro)
n.3346T>C
n.724T>C
c.5693T>C (p.Leu1898Pro)
c.5801T>C (p.Leu1934Pro)
c.5804T>C (p.Leu1935Pro)
c.5777T>C (p.Leu1926Pro)
c.5714T>C (p.Leu1905Pro)
c.5585T>C (p.Leu1862Pro)
c.5573T>C (p.Leu1858Pro)
c.5546T>C (p.Leu1849Pro)
n.6130T>C
c.5900T>C (p.Leu1967Pro)
c.5894T>C (p.Leu1965Pro)
c.5891T>C (p.Leu1964Pro)
c.5786T>C (p.Leu1929Pro)
c.5783T>C (p.Leu1928Pro)
n.5915T>C
n.5830T>C
n.5901T>C
 gnomAD v4
11g.77207356T>GCA381954062MYO7Ac.5810T>G (p.Leu1937Arg)
c.3637T>G
c.5663T>G (p.Leu1888Arg)
c.3236T>G (p.Leu1079Arg)
c.5696T>G (p.Leu1899Arg)
n.3346T>G
n.724T>G
c.5693T>G (p.Leu1898Arg)
c.5801T>G (p.Leu1934Arg)
c.5804T>G (p.Leu1935Arg)
c.5777T>G (p.Leu1926Arg)
c.5714T>G (p.Leu1905Arg)
c.5585T>G (p.Leu1862Arg)
c.5573T>G (p.Leu1858Arg)
c.5546T>G (p.Leu1849Arg)
n.6130T>G
c.5900T>G (p.Leu1967Arg)
c.5894T>G (p.Leu1965Arg)
c.5891T>G (p.Leu1964Arg)
c.5786T>G (p.Leu1929Arg)
c.5783T>G (p.Leu1928Arg)
n.5915T>G
n.5830T>G
n.5901T>G
11g.77207357C>ACA475797322MYO7Ac.5811C>A (p.Leu1937=)
c.3638C>A
c.5664C>A (p.Leu1888=)
c.3237C>A (p.Leu1079=)
c.5697C>A (p.Leu1899=)
n.3347C>A
n.725C>A
c.5694C>A (p.Leu1898=)
c.5802C>A (p.Leu1934=)
c.5805C>A (p.Leu1935=)
c.5778C>A (p.Leu1926=)
c.5715C>A (p.Leu1905=)
c.5586C>A (p.Leu1862=)
c.5574C>A (p.Leu1858=)
c.5547C>A (p.Leu1849=)
n.6131C>A
c.5901C>A (p.Leu1967=)
c.5895C>A (p.Leu1965=)
c.5892C>A (p.Leu1964=)
c.5787C>A (p.Leu1929=)
c.5784C>A (p.Leu1928=)
n.5916C>A
n.5831C>A
n.5902C>A
11g.77207357C=CA1984127875MYO7Ac.5811C= (p.Leu1937=)
c.3638C=
c.5664C= (p.Leu1888=)
c.3237C= (p.Leu1079=)
c.5697C= (p.Leu1899=)
n.3347C=
n.725C=
c.5694C= (p.Leu1898=)
c.5802C= (p.Leu1934=)
c.5805C= (p.Leu1935=)
c.5778C= (p.Leu1926=)
c.5715C= (p.Leu1905=)
c.5586C= (p.Leu1862=)
c.5574C= (p.Leu1858=)
c.5547C= (p.Leu1849=)
n.6131C=
c.5901C= (p.Leu1967=)
c.5895C= (p.Leu1965=)
c.5892C= (p.Leu1964=)
c.5787C= (p.Leu1929=)
c.5784C= (p.Leu1928=)
n.5916C=
n.5831C=
n.5902C=
11g.77207357C>GCA475797323MYO7Ac.5811C>G (p.Leu1937=)
c.3638C>G
c.5664C>G (p.Leu1888=)
c.3237C>G (p.Leu1079=)
c.5697C>G (p.Leu1899=)
n.3347C>G
n.725C>G
c.5694C>G (p.Leu1898=)
c.5802C>G (p.Leu1934=)
c.5805C>G (p.Leu1935=)
c.5778C>G (p.Leu1926=)
c.5715C>G (p.Leu1905=)
c.5586C>G (p.Leu1862=)
c.5574C>G (p.Leu1858=)
c.5547C>G (p.Leu1849=)
n.6131C>G
c.5901C>G (p.Leu1967=)
c.5895C>G (p.Leu1965=)
c.5892C>G (p.Leu1964=)
c.5787C>G (p.Leu1929=)
c.5784C>G (p.Leu1928=)
n.5916C>G
n.5831C>G
n.5902C>G
11g.77207357C>TCA475797324MYO7Ac.5811C>T (p.Leu1937=)
c.3638C>T
c.5664C>T (p.Leu1888=)
c.3237C>T (p.Leu1079=)
c.5697C>T (p.Leu1899=)
n.3347C>T
n.725C>T
c.5694C>T (p.Leu1898=)
c.5802C>T (p.Leu1934=)
c.5805C>T (p.Leu1935=)
c.5778C>T (p.Leu1926=)
c.5715C>T (p.Leu1905=)
c.5586C>T (p.Leu1862=)
c.5574C>T (p.Leu1858=)
c.5547C>T (p.Leu1849=)
n.6131C>T
c.5901C>T (p.Leu1967=)
c.5895C>T (p.Leu1965=)
c.5892C>T (p.Leu1964=)
c.5787C>T (p.Leu1929=)
c.5784C>T (p.Leu1928=)
n.5916C>T
n.5831C>T
n.5902C>T
 dbSNP
11g.77207358A>CCA381954064MYO7Ac.5812A>C (p.Lys1938Gln)
c.3639A>C
c.5665A>C (p.Lys1889Gln)
c.3238A>C (p.Lys1080Gln)
c.5698A>C (p.Lys1900Gln)
n.3348A>C
n.726A>C
c.5695A>C (p.Lys1899Gln)
c.5803A>C (p.Lys1935Gln)
c.5806A>C (p.Lys1936Gln)
c.5779A>C (p.Lys1927Gln)
c.5716A>C (p.Lys1906Gln)
c.5587A>C (p.Lys1863Gln)
c.5575A>C (p.Lys1859Gln)
c.5548A>C (p.Lys1850Gln)
n.6132A>C
c.5902A>C (p.Lys1968Gln)
c.5896A>C (p.Lys1966Gln)
c.5893A>C (p.Lys1965Gln)
c.5788A>C (p.Lys1930Gln)
c.5785A>C (p.Lys1929Gln)
n.5917A>C
n.5832A>C
n.5903A>C
11g.77207358A>GCA381954065MYO7Ac.5812A>G (p.Lys1938Glu)
c.3639A>G
c.5665A>G (p.Lys1889Glu)
c.3238A>G (p.Lys1080Glu)
c.5698A>G (p.Lys1900Glu)
n.3348A>G
n.726A>G
c.5695A>G (p.Lys1899Glu)
c.5803A>G (p.Lys1935Glu)
c.5806A>G (p.Lys1936Glu)
c.5779A>G (p.Lys1927Glu)
c.5716A>G (p.Lys1906Glu)
c.5587A>G (p.Lys1863Glu)
c.5575A>G (p.Lys1859Glu)
c.5548A>G (p.Lys1850Glu)
n.6132A>G
c.5902A>G (p.Lys1968Glu)
c.5896A>G (p.Lys1966Glu)
c.5893A>G (p.Lys1965Glu)
c.5788A>G (p.Lys1930Glu)
c.5785A>G (p.Lys1929Glu)
n.5917A>G
n.5832A>G
n.5903A>G
11g.77207358A>TCA381954066MYO7Ac.5812A>T (p.Lys1938Ter)
c.3639A>T
c.5665A>T (p.Lys1889Ter)
c.3238A>T (p.Lys1080Ter)
c.5698A>T (p.Lys1900Ter)
n.3348A>T
n.726A>T
c.5695A>T (p.Lys1899Ter)
c.5803A>T (p.Lys1935Ter)
c.5806A>T (p.Lys1936Ter)
c.5779A>T (p.Lys1927Ter)
c.5716A>T (p.Lys1906Ter)
c.5587A>T (p.Lys1863Ter)
c.5575A>T (p.Lys1859Ter)
c.5548A>T (p.Lys1850Ter)
n.6132A>T
c.5902A>T (p.Lys1968Ter)
c.5896A>T (p.Lys1966Ter)
c.5893A>T (p.Lys1965Ter)
c.5788A>T (p.Lys1930Ter)
c.5785A>T (p.Lys1929Ter)
n.5917A>T
n.5832A>T
n.5903A>T
11g.77207359delCA2615268384MYO7Ac.5813del (p.Lys1938SerfsTer?)
c.3640del
c.5666del (p.Lys1889SerfsTer?)
c.3239del (p.Lys1080SerfsTer?)
c.5699del (p.Lys1900SerfsTer?)
n.3349del
n.727del
c.5696del (p.Lys1899SerfsTer?)
c.5804del (p.Lys1935SerfsTer?)
c.5807del (p.Lys1936SerfsTer?)
c.5780del (p.Lys1927SerfsTer?)
c.5717del (p.Lys1906SerfsTer?)
c.5588del (p.Lys1863SerfsTer?)
c.5576del (p.Lys1859SerfsTer?)
c.5549del (p.Lys1850SerfsTer?)
n.6133del
c.5903del (p.Lys1968SerfsTer?)
c.5897del (p.Lys1966SerfsTer?)
c.5894del (p.Lys1965SerfsTer?)
c.5789del (p.Lys1930SerfsTer?)
c.5786del (p.Lys1929SerfsTer?)
n.5918del
n.5833del
n.5904del
 gnomAD v4
11g.77207359A>CCA381954067MYO7Ac.5813A>C (p.Lys1938Thr)
c.3640A>C
c.5666A>C (p.Lys1889Thr)
c.3239A>C (p.Lys1080Thr)
c.5699A>C (p.Lys1900Thr)
n.3349A>C
n.727A>C
c.5696A>C (p.Lys1899Thr)
c.5804A>C (p.Lys1935Thr)
c.5807A>C (p.Lys1936Thr)
c.5780A>C (p.Lys1927Thr)
c.5717A>C (p.Lys1906Thr)
c.5588A>C (p.Lys1863Thr)
c.5576A>C (p.Lys1859Thr)
c.5549A>C (p.Lys1850Thr)
n.6133A>C
c.5903A>C (p.Lys1968Thr)
c.5897A>C (p.Lys1966Thr)
c.5894A>C (p.Lys1965Thr)
c.5789A>C (p.Lys1930Thr)
c.5786A>C (p.Lys1929Thr)
n.5918A>C
n.5833A>C
n.5904A>C
11g.77207359A>GCA381954068MYO7Ac.5813A>G (p.Lys1938Arg)
c.3640A>G
c.5666A>G (p.Lys1889Arg)
c.3239A>G (p.Lys1080Arg)
c.5699A>G (p.Lys1900Arg)
n.3349A>G
n.727A>G
c.5696A>G (p.Lys1899Arg)
c.5804A>G (p.Lys1935Arg)
c.5807A>G (p.Lys1936Arg)
c.5780A>G (p.Lys1927Arg)
c.5717A>G (p.Lys1906Arg)
c.5588A>G (p.Lys1863Arg)
c.5576A>G (p.Lys1859Arg)
c.5549A>G (p.Lys1850Arg)
n.6133A>G
c.5903A>G (p.Lys1968Arg)
c.5897A>G (p.Lys1966Arg)
c.5894A>G (p.Lys1965Arg)
c.5789A>G (p.Lys1930Arg)
c.5786A>G (p.Lys1929Arg)
n.5918A>G
n.5833A>G
n.5904A>G
11g.77207359A>TCA381954069MYO7Ac.5813A>T (p.Lys1938Met)
c.3640A>T
c.5666A>T (p.Lys1889Met)
c.3239A>T (p.Lys1080Met)
c.5699A>T (p.Lys1900Met)
n.3349A>T
n.727A>T
c.5696A>T (p.Lys1899Met)
c.5804A>T (p.Lys1935Met)
c.5807A>T (p.Lys1936Met)
c.5780A>T (p.Lys1927Met)
c.5717A>T (p.Lys1906Met)
c.5588A>T (p.Lys1863Met)
c.5576A>T (p.Lys1859Met)
c.5549A>T (p.Lys1850Met)
n.6133A>T
c.5903A>T (p.Lys1968Met)
c.5897A>T (p.Lys1966Met)
c.5894A>T (p.Lys1965Met)
c.5789A>T (p.Lys1930Met)
c.5786A>T (p.Lys1929Met)
n.5918A>T
n.5833A>T
n.5904A>T
11g.77207360G>ACA475797325MYO7Ac.5814G>A (p.Lys1938=)
c.3641G>A
c.5667G>A (p.Lys1889=)
c.3240G>A (p.Lys1080=)
c.5700G>A (p.Lys1900=)
n.3350G>A
n.728G>A
c.5697G>A (p.Lys1899=)
c.5805G>A (p.Lys1935=)
c.5808G>A (p.Lys1936=)
c.5781G>A (p.Lys1927=)
c.5718G>A (p.Lys1906=)
c.5589G>A (p.Lys1863=)
c.5577G>A (p.Lys1859=)
c.5550G>A (p.Lys1850=)
n.6134G>A
c.5904G>A (p.Lys1968=)
c.5898G>A (p.Lys1966=)
c.5895G>A (p.Lys1965=)
c.5790G>A (p.Lys1930=)
c.5787G>A (p.Lys1929=)
n.5919G>A
n.5834G>A
n.5905G>A
 ClinVar dbSNP
11g.77207360G>CCA381954070MYO7Ac.5814G>C (p.Lys1938Asn)
c.3641G>C
c.5667G>C (p.Lys1889Asn)
c.3240G>C (p.Lys1080Asn)
c.5700G>C (p.Lys1900Asn)
n.3350G>C
n.728G>C
c.5697G>C (p.Lys1899Asn)
c.5805G>C (p.Lys1935Asn)
c.5808G>C (p.Lys1936Asn)
c.5781G>C (p.Lys1927Asn)
c.5718G>C (p.Lys1906Asn)
c.5589G>C (p.Lys1863Asn)
c.5577G>C (p.Lys1859Asn)
c.5550G>C (p.Lys1850Asn)
n.6134G>C
c.5904G>C (p.Lys1968Asn)
c.5898G>C (p.Lys1966Asn)
c.5895G>C (p.Lys1965Asn)
c.5790G>C (p.Lys1930Asn)
c.5787G>C (p.Lys1929Asn)
n.5919G>C
n.5834G>C
n.5905G>C
 COSMIC
11g.77207360G=CA1984127876MYO7Ac.5814G= (p.Lys1938=)
c.3641G=
c.5667G= (p.Lys1889=)
c.3240G= (p.Lys1080=)
c.5700G= (p.Lys1900=)
n.3350G=
n.728G=
c.5697G= (p.Lys1899=)
c.5805G= (p.Lys1935=)
c.5808G= (p.Lys1936=)
c.5781G= (p.Lys1927=)
c.5718G= (p.Lys1906=)
c.5589G= (p.Lys1863=)
c.5577G= (p.Lys1859=)
c.5550G= (p.Lys1850=)
n.6134G=
c.5904G= (p.Lys1968=)
c.5898G= (p.Lys1966=)
c.5895G= (p.Lys1965=)
c.5790G= (p.Lys1930=)
c.5787G= (p.Lys1929=)
n.5919G=
n.5834G=
n.5905G=
11g.77207360G>TCA381954071MYO7Ac.5814G>T (p.Lys1938Asn)
c.3641G>T
c.5667G>T (p.Lys1889Asn)
c.3240G>T (p.Lys1080Asn)
c.5700G>T (p.Lys1900Asn)
n.3350G>T
n.728G>T
c.5697G>T (p.Lys1899Asn)
c.5805G>T (p.Lys1935Asn)
c.5808G>T (p.Lys1936Asn)
c.5781G>T (p.Lys1927Asn)
c.5718G>T (p.Lys1906Asn)
c.5589G>T (p.Lys1863Asn)
c.5577G>T (p.Lys1859Asn)
c.5550G>T (p.Lys1850Asn)
n.6134G>T
c.5904G>T (p.Lys1968Asn)
c.5898G>T (p.Lys1966Asn)
c.5895G>T (p.Lys1965Asn)
c.5790G>T (p.Lys1930Asn)
c.5787G>T (p.Lys1929Asn)
n.5919G>T
n.5834G>T
n.5905G>T
11g.77207361T>ACA381954072MYO7Ac.5815T>A (p.Ser1939Thr)
c.3642T>A
c.5668T>A (p.Ser1890Thr)
c.3241T>A (p.Ser1081Thr)
c.5701T>A (p.Ser1901Thr)
n.3351T>A
n.729T>A
c.5698T>A (p.Ser1900Thr)
c.5806T>A (p.Ser1936Thr)
c.5809T>A (p.Ser1937Thr)
c.5782T>A (p.Ser1928Thr)
c.5719T>A (p.Ser1907Thr)
c.5590T>A (p.Ser1864Thr)
c.5578T>A (p.Ser1860Thr)
c.5551T>A (p.Ser1851Thr)
n.6135T>A
c.5905T>A (p.Ser1969Thr)
c.5899T>A (p.Ser1967Thr)
c.5896T>A (p.Ser1966Thr)
c.5791T>A (p.Ser1931Thr)
c.5788T>A (p.Ser1930Thr)
n.5920T>A
n.5835T>A
n.5906T>A
11g.77207361T>CCA381954073MYO7Ac.5815T>C (p.Ser1939Pro)
c.3642T>C
c.5668T>C (p.Ser1890Pro)
c.3241T>C (p.Ser1081Pro)
c.5701T>C (p.Ser1901Pro)
n.3351T>C
n.729T>C
c.5698T>C (p.Ser1900Pro)
c.5806T>C (p.Ser1936Pro)
c.5809T>C (p.Ser1937Pro)
c.5782T>C (p.Ser1928Pro)
c.5719T>C (p.Ser1907Pro)
c.5590T>C (p.Ser1864Pro)
c.5578T>C (p.Ser1860Pro)
c.5551T>C (p.Ser1851Pro)
n.6135T>C
c.5905T>C (p.Ser1969Pro)
c.5899T>C (p.Ser1967Pro)
c.5896T>C (p.Ser1966Pro)
c.5791T>C (p.Ser1931Pro)
c.5788T>C (p.Ser1930Pro)
n.5920T>C
n.5835T>C
n.5906T>C
 dbSNP gnomAD v2
11g.77207361T>GCA381954074MYO7Ac.5815T>G (p.Ser1939Ala)
c.3642T>G
c.5668T>G (p.Ser1890Ala)
c.3241T>G (p.Ser1081Ala)
c.5701T>G (p.Ser1901Ala)
n.3351T>G
n.729T>G
c.5698T>G (p.Ser1900Ala)
c.5806T>G (p.Ser1936Ala)
c.5809T>G (p.Ser1937Ala)
c.5782T>G (p.Ser1928Ala)
c.5719T>G (p.Ser1907Ala)
c.5590T>G (p.Ser1864Ala)
c.5578T>G (p.Ser1860Ala)
c.5551T>G (p.Ser1851Ala)
n.6135T>G
c.5905T>G (p.Ser1969Ala)
c.5899T>G (p.Ser1967Ala)
c.5896T>G (p.Ser1966Ala)
c.5791T>G (p.Ser1931Ala)
c.5788T>G (p.Ser1930Ala)
n.5920T>G
n.5835T>G
n.5906T>G
11g.77207361T=CA1984127877MYO7Ac.5815T= (p.Ser1939=)
c.3642T=
c.5668T= (p.Ser1890=)
c.3241T= (p.Ser1081=)
c.5701T= (p.Ser1901=)
n.3351T=
n.729T=
c.5698T= (p.Ser1900=)
c.5806T= (p.Ser1936=)
c.5809T= (p.Ser1937=)
c.5782T= (p.Ser1928=)
c.5719T= (p.Ser1907=)
c.5590T= (p.Ser1864=)
c.5578T= (p.Ser1860=)
c.5551T= (p.Ser1851=)
n.6135T=
c.5905T= (p.Ser1969=)
c.5899T= (p.Ser1967=)
c.5896T= (p.Ser1966=)
c.5791T= (p.Ser1931=)
c.5788T= (p.Ser1930=)
n.5920T=
n.5835T=
n.5906T=
11g.77207362C>ACA381954077MYO7Ac.5816C>A (p.Ser1939Tyr)
c.3643C>A
c.5669C>A (p.Ser1890Tyr)
c.3242C>A (p.Ser1081Tyr)
c.5702C>A (p.Ser1901Tyr)
n.3352C>A
n.730C>A
c.5699C>A (p.Ser1900Tyr)
c.5807C>A (p.Ser1936Tyr)
c.5810C>A (p.Ser1937Tyr)
c.5783C>A (p.Ser1928Tyr)
c.5720C>A (p.Ser1907Tyr)
c.5591C>A (p.Ser1864Tyr)
c.5579C>A (p.Ser1860Tyr)
c.5552C>A (p.Ser1851Tyr)
n.6136C>A
c.5906C>A (p.Ser1969Tyr)
c.5900C>A (p.Ser1967Tyr)
c.5897C>A (p.Ser1966Tyr)
c.5792C>A (p.Ser1931Tyr)
c.5789C>A (p.Ser1930Tyr)
n.5921C>A
n.5836C>A
n.5907C>A
11g.77207362C=CA1984127878MYO7Ac.5816C= (p.Ser1939=)
c.3643C=
c.5669C= (p.Ser1890=)
c.3242C= (p.Ser1081=)
c.5702C= (p.Ser1901=)
n.3352C=
n.730C=
c.5699C= (p.Ser1900=)
c.5807C= (p.Ser1936=)
c.5810C= (p.Ser1937=)
c.5783C= (p.Ser1928=)
c.5720C= (p.Ser1907=)
c.5591C= (p.Ser1864=)
c.5579C= (p.Ser1860=)
c.5552C= (p.Ser1851=)
n.6136C=
c.5906C= (p.Ser1969=)
c.5900C= (p.Ser1967=)
c.5897C= (p.Ser1966=)
c.5792C= (p.Ser1931=)
c.5789C= (p.Ser1930=)
n.5921C=
n.5836C=
n.5907C=
11g.77207362C>GCA381954075MYO7Ac.5816C>G (p.Ser1939Cys)
c.3643C>G
c.5669C>G (p.Ser1890Cys)
c.3242C>G (p.Ser1081Cys)
c.5702C>G (p.Ser1901Cys)
n.3352C>G
n.730C>G
c.5699C>G (p.Ser1900Cys)
c.5807C>G (p.Ser1936Cys)
c.5810C>G (p.Ser1937Cys)
c.5783C>G (p.Ser1928Cys)
c.5720C>G (p.Ser1907Cys)
c.5591C>G (p.Ser1864Cys)
c.5579C>G (p.Ser1860Cys)
c.5552C>G (p.Ser1851Cys)
n.6136C>G
c.5906C>G (p.Ser1969Cys)
c.5900C>G (p.Ser1967Cys)
c.5897C>G (p.Ser1966Cys)
c.5792C>G (p.Ser1931Cys)
c.5789C>G (p.Ser1930Cys)
n.5921C>G
n.5836C>G
n.5907C>G
11g.77207362C>TCA381954076MYO7Ac.5816C>T (p.Ser1939Phe)
c.3643C>T
c.5669C>T (p.Ser1890Phe)
c.3242C>T (p.Ser1081Phe)
c.5702C>T (p.Ser1901Phe)
n.3352C>T
n.730C>T
c.5699C>T (p.Ser1900Phe)
c.5807C>T (p.Ser1936Phe)
c.5810C>T (p.Ser1937Phe)
c.5783C>T (p.Ser1928Phe)
c.5720C>T (p.Ser1907Phe)
c.5591C>T (p.Ser1864Phe)
c.5579C>T (p.Ser1860Phe)
c.5552C>T (p.Ser1851Phe)
n.6136C>T
c.5906C>T (p.Ser1969Phe)
c.5900C>T (p.Ser1967Phe)
c.5897C>T (p.Ser1966Phe)
c.5792C>T (p.Ser1931Phe)
c.5789C>T (p.Ser1930Phe)
n.5921C>T
n.5836C>T
n.5907C>T
 dbSNP
11g.77207363C>ACA475797329MYO7Ac.5817C>A (p.Ser1939=)
c.3644C>A
c.5670C>A (p.Ser1890=)
c.3243C>A (p.Ser1081=)
c.5703C>A (p.Ser1901=)
n.3353C>A
n.731C>A
c.5700C>A (p.Ser1900=)
c.5808C>A (p.Ser1936=)
c.5811C>A (p.Ser1937=)
c.5784C>A (p.Ser1928=)
c.5721C>A (p.Ser1907=)
c.5592C>A (p.Ser1864=)
c.5580C>A (p.Ser1860=)
c.5553C>A (p.Ser1851=)
n.6137C>A
c.5907C>A (p.Ser1969=)
c.5901C>A (p.Ser1967=)
c.5898C>A (p.Ser1966=)
c.5793C>A (p.Ser1931=)
c.5790C>A (p.Ser1930=)
n.5922C>A
n.5837C>A
n.5908C>A
11g.77207363C>GCA475797328MYO7Ac.5817C>G (p.Ser1939=)
c.3644C>G
c.5670C>G (p.Ser1890=)
c.3243C>G (p.Ser1081=)
c.5703C>G (p.Ser1901=)
n.3353C>G
n.731C>G
c.5700C>G (p.Ser1900=)
c.5808C>G (p.Ser1936=)
c.5811C>G (p.Ser1937=)
c.5784C>G (p.Ser1928=)
c.5721C>G (p.Ser1907=)
c.5592C>G (p.Ser1864=)
c.5580C>G (p.Ser1860=)
c.5553C>G (p.Ser1851=)
n.6137C>G
c.5907C>G (p.Ser1969=)
c.5901C>G (p.Ser1967=)
c.5898C>G (p.Ser1966=)
c.5793C>G (p.Ser1931=)
c.5790C>G (p.Ser1930=)
n.5922C>G
n.5837C>G
n.5908C>G
11g.77207363C>TCA475797327MYO7Ac.5817C>T (p.Ser1939=)
c.3644C>T
c.5670C>T (p.Ser1890=)
c.3243C>T (p.Ser1081=)
c.5703C>T (p.Ser1901=)
n.3353C>T
n.731C>T
c.5700C>T (p.Ser1900=)
c.5808C>T (p.Ser1936=)
c.5811C>T (p.Ser1937=)
c.5784C>T (p.Ser1928=)
c.5721C>T (p.Ser1907=)
c.5592C>T (p.Ser1864=)
c.5580C>T (p.Ser1860=)
c.5553C>T (p.Ser1851=)
n.6137C>T
c.5907C>T (p.Ser1969=)
c.5901C>T (p.Ser1967=)
c.5898C>T (p.Ser1966=)
c.5793C>T (p.Ser1931=)
c.5790C>T (p.Ser1930=)
n.5922C>T
n.5837C>T
n.5908C>T
 gnomAD v4
11g.77207364T>ACA381954078MYO7Ac.5818T>A (p.Ser1940Thr)
c.3645T>A
c.5671T>A (p.Ser1891Thr)
c.3244T>A (p.Ser1082Thr)
c.5704T>A (p.Ser1902Thr)
n.3354T>A
n.732T>A
c.5701T>A (p.Ser1901Thr)
c.5809T>A (p.Ser1937Thr)
c.5812T>A (p.Ser1938Thr)
c.5785T>A (p.Ser1929Thr)
c.5722T>A (p.Ser1908Thr)
c.5593T>A (p.Ser1865Thr)
c.5581T>A (p.Ser1861Thr)
c.5554T>A (p.Ser1852Thr)
n.6138T>A
c.5908T>A (p.Ser1970Thr)
c.5902T>A (p.Ser1968Thr)
c.5899T>A (p.Ser1967Thr)
c.5794T>A (p.Ser1932Thr)
c.5791T>A (p.Ser1931Thr)
n.5923T>A
n.5838T>A
n.5909T>A
11g.77207364T>CCA381954079MYO7Ac.5818T>C (p.Ser1940Pro)
c.3645T>C
c.5671T>C (p.Ser1891Pro)
c.3244T>C (p.Ser1082Pro)
c.5704T>C (p.Ser1902Pro)
n.3354T>C
n.732T>C
c.5701T>C (p.Ser1901Pro)
c.5809T>C (p.Ser1937Pro)
c.5812T>C (p.Ser1938Pro)
c.5785T>C (p.Ser1929Pro)
c.5722T>C (p.Ser1908Pro)
c.5593T>C (p.Ser1865Pro)
c.5581T>C (p.Ser1861Pro)
c.5554T>C (p.Ser1852Pro)
n.6138T>C
c.5908T>C (p.Ser1970Pro)
c.5902T>C (p.Ser1968Pro)
c.5899T>C (p.Ser1967Pro)
c.5794T>C (p.Ser1932Pro)
c.5791T>C (p.Ser1931Pro)
n.5923T>C
n.5838T>C
n.5909T>C
11g.77207364T>GCA381954080MYO7Ac.5818T>G (p.Ser1940Ala)
c.3645T>G
c.5671T>G (p.Ser1891Ala)
c.3244T>G (p.Ser1082Ala)
c.5704T>G (p.Ser1902Ala)
n.3354T>G
n.732T>G
c.5701T>G (p.Ser1901Ala)
c.5809T>G (p.Ser1937Ala)
c.5812T>G (p.Ser1938Ala)
c.5785T>G (p.Ser1929Ala)
c.5722T>G (p.Ser1908Ala)
c.5593T>G (p.Ser1865Ala)
c.5581T>G (p.Ser1861Ala)
c.5554T>G (p.Ser1852Ala)
n.6138T>G
c.5908T>G (p.Ser1970Ala)
c.5902T>G (p.Ser1968Ala)
c.5899T>G (p.Ser1967Ala)
c.5794T>G (p.Ser1932Ala)
c.5791T>G (p.Ser1931Ala)
n.5923T>G
n.5838T>G
n.5909T>G
11g.77207365C>ACA381954081MYO7Ac.5819C>A (p.Ser1940Ter)
c.3646C>A
c.5672C>A (p.Ser1891Ter)
c.3245C>A (p.Ser1082Ter)
c.5705C>A (p.Ser1902Ter)
n.3355C>A
n.733C>A
c.5702C>A (p.Ser1901Ter)
c.5810C>A (p.Ser1937Ter)
c.5813C>A (p.Ser1938Ter)
c.5786C>A (p.Ser1929Ter)
c.5723C>A (p.Ser1908Ter)
c.5594C>A (p.Ser1865Ter)
c.5582C>A (p.Ser1861Ter)
c.5555C>A (p.Ser1852Ter)
n.6139C>A
c.5909C>A (p.Ser1970Ter)
c.5903C>A (p.Ser1968Ter)
c.5900C>A (p.Ser1967Ter)
c.5795C>A (p.Ser1932Ter)
c.5792C>A (p.Ser1931Ter)
n.5924C>A
n.5839C>A
n.5910C>A
11g.77207365C>GCA381954082MYO7Ac.5819C>G (p.Ser1940Ter)
c.3646C>G
c.5672C>G (p.Ser1891Ter)
c.3245C>G (p.Ser1082Ter)
c.5705C>G (p.Ser1902Ter)
n.3355C>G
n.733C>G
c.5702C>G (p.Ser1901Ter)
c.5810C>G (p.Ser1937Ter)
c.5813C>G (p.Ser1938Ter)
c.5786C>G (p.Ser1929Ter)
c.5723C>G (p.Ser1908Ter)
c.5594C>G (p.Ser1865Ter)
c.5582C>G (p.Ser1861Ter)
c.5555C>G (p.Ser1852Ter)
n.6139C>G
c.5909C>G (p.Ser1970Ter)
c.5903C>G (p.Ser1968Ter)
c.5900C>G (p.Ser1967Ter)
c.5795C>G (p.Ser1932Ter)
c.5792C>G (p.Ser1931Ter)
n.5924C>G
n.5839C>G
n.5910C>G
11g.77207365C>TCA381954083MYO7Ac.5819C>T (p.Ser1940Leu)
c.3646C>T
c.5672C>T (p.Ser1891Leu)
c.3245C>T (p.Ser1082Leu)
c.5705C>T (p.Ser1902Leu)
n.3355C>T
n.733C>T
c.5702C>T (p.Ser1901Leu)
c.5810C>T (p.Ser1937Leu)
c.5813C>T (p.Ser1938Leu)
c.5786C>T (p.Ser1929Leu)
c.5723C>T (p.Ser1908Leu)
c.5594C>T (p.Ser1865Leu)
c.5582C>T (p.Ser1861Leu)
c.5555C>T (p.Ser1852Leu)
n.6139C>T
c.5909C>T (p.Ser1970Leu)
c.5903C>T (p.Ser1968Leu)
c.5900C>T (p.Ser1967Leu)
c.5795C>T (p.Ser1932Leu)
c.5792C>T (p.Ser1931Leu)
n.5924C>T
n.5839C>T
n.5910C>T
 gnomAD v4
11g.77207365_77207367delinsCAGCA1984127879MYO7Ac.5819_5821delinsCAG (p.Ser1940=)
c.3646_3648delinsCAG
c.5672_5674delinsCAG (p.Ser1891=)
c.3245_3247delinsCAG (p.Ser1082=)
c.5705_5707delinsCAG (p.Ser1902=)
n.3355_3357delinsCAG
n.733_735delinsCAG
c.5702_5704delinsCAG (p.Ser1901=)
c.5810_5812delinsCAG (p.Ser1937=)
c.5813_5815delinsCAG (p.Ser1938=)
c.5786_5788delinsCAG (p.Ser1929=)
c.5723_5725delinsCAG (p.Ser1908=)
c.5594_5596delinsCAG (p.Ser1865=)
c.5582_5584delinsCAG (p.Ser1861=)
c.5555_5557delinsCAG (p.Ser1852=)
n.6139_6141delinsCAG
c.5909_5911delinsCAG (p.Ser1970=)
c.5903_5905delinsCAG (p.Ser1968=)
c.5900_5902delinsCAG (p.Ser1967=)
c.5795_5797delinsCAG (p.Ser1932=)
c.5792_5794delinsCAG (p.Ser1931=)
n.5924_5926delinsCAG
n.5839_5841delinsCAG
n.5910_5912delinsCAG
11g.77207366A=CA1984127880MYO7Ac.5820A= (p.Ser1940=)
c.3647A=
c.5673A= (p.Ser1891=)
c.3246A= (p.Ser1082=)
c.5706A= (p.Ser1902=)
n.3356A=
n.734A=
c.5703A= (p.Ser1901=)
c.5811A= (p.Ser1937=)
c.5814A= (p.Ser1938=)
c.5787A= (p.Ser1929=)
c.5724A= (p.Ser1908=)
c.5595A= (p.Ser1865=)
c.5583A= (p.Ser1861=)
c.5556A= (p.Ser1852=)
n.6140A=
c.5910A= (p.Ser1970=)
c.5904A= (p.Ser1968=)
c.5901A= (p.Ser1967=)
c.5796A= (p.Ser1932=)
c.5793A= (p.Ser1931=)
n.5925A=
n.5840A=
n.5911A=
11g.77207366A>CCA475797331MYO7Ac.5820A>C (p.Ser1940=)
c.3647A>C
c.5673A>C (p.Ser1891=)
c.3246A>C (p.Ser1082=)
c.5706A>C (p.Ser1902=)
n.3356A>C
n.734A>C
c.5703A>C (p.Ser1901=)
c.5811A>C (p.Ser1937=)
c.5814A>C (p.Ser1938=)
c.5787A>C (p.Ser1929=)
c.5724A>C (p.Ser1908=)
c.5595A>C (p.Ser1865=)
c.5583A>C (p.Ser1861=)
c.5556A>C (p.Ser1852=)
n.6140A>C
c.5910A>C (p.Ser1970=)
c.5904A>C (p.Ser1968=)
c.5901A>C (p.Ser1967=)
c.5796A>C (p.Ser1932=)
c.5793A>C (p.Ser1931=)
n.5925A>C
n.5840A>C
n.5911A>C
11g.77207366A>GCA10639469MYO7Ac.5820A>G (p.Ser1940=)
c.3647A>G
c.5673A>G (p.Ser1891=)
c.3246A>G (p.Ser1082=)
c.5706A>G (p.Ser1902=)
n.3356A>G
n.734A>G
c.5703A>G (p.Ser1901=)
c.5811A>G (p.Ser1937=)
c.5814A>G (p.Ser1938=)
c.5787A>G (p.Ser1929=)
c.5724A>G (p.Ser1908=)
c.5595A>G (p.Ser1865=)
c.5583A>G (p.Ser1861=)
c.5556A>G (p.Ser1852=)
n.6140A>G
c.5910A>G (p.Ser1970=)
c.5904A>G (p.Ser1968=)
c.5901A>G (p.Ser1967=)
c.5796A>G (p.Ser1932=)
c.5793A>G (p.Ser1931=)
n.5925A>G
n.5840A>G
n.5911A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77207366A>TCA475797330MYO7Ac.5820A>T (p.Ser1940=)
c.3647A>T
c.5673A>T (p.Ser1891=)
c.3246A>T (p.Ser1082=)
c.5706A>T (p.Ser1902=)
n.3356A>T
n.734A>T
c.5703A>T (p.Ser1901=)
c.5811A>T (p.Ser1937=)
c.5814A>T (p.Ser1938=)
c.5787A>T (p.Ser1929=)
c.5724A>T (p.Ser1908=)
c.5595A>T (p.Ser1865=)
c.5583A>T (p.Ser1861=)
c.5556A>T (p.Ser1852=)
n.6140A>T
c.5910A>T (p.Ser1970=)
c.5904A>T (p.Ser1968=)
c.5901A>T (p.Ser1967=)
c.5796A>T (p.Ser1932=)
c.5793A>T (p.Ser1931=)
n.5925A>T
n.5840A>T
n.5911A>T
11g.77207368_77207369delCA916083267MYO7Ac.5822_5823del (p.Glu1941GlyfsTer17)
c.3649_3650del
c.5675_5676del (p.Glu1892GlyfsTer17)
c.3248_3249del (p.Glu1083GlyfsTer17)
c.5708_5709del (p.Glu1903GlyfsTer17)
n.3358_3359del
n.736_737del
c.5705_5706del (p.Glu1902GlyfsTer17)
c.5813_5814del (p.Glu1938GlyfsTer17)
c.5816_5817del (p.Glu1939GlyfsTer17)
c.5789_5790del (p.Glu1930GlyfsTer17)
c.5726_5727del (p.Glu1909GlyfsTer17)
c.5597_5598del (p.Glu1866GlyfsTer17)
c.5585_5586del (p.Glu1862GlyfsTer17)
c.5558_5559del (p.Glu1853GlyfsTer17)
n.6142_6143del
c.5912_5913del (p.Glu1971GlyfsTer17)
c.5906_5907del (p.Glu1969GlyfsTer17)
c.5903_5904del (p.Glu1968GlyfsTer17)
c.5798_5799del (p.Glu1933GlyfsTer17)
c.5795_5796del (p.Glu1932GlyfsTer17)
n.5927_5928del
n.5842_5843del
n.5913_5914del
 ClinVar dbSNP
11g.77207367G>ACA381954084MYO7Ac.5821G>A (p.Glu1941Lys)
c.3648G>A
c.5674G>A (p.Glu1892Lys)
c.3247G>A (p.Glu1083Lys)
c.5707G>A (p.Glu1903Lys)
n.3357G>A
n.735G>A
c.5704G>A (p.Glu1902Lys)
c.5812G>A (p.Glu1938Lys)
c.5815G>A (p.Glu1939Lys)
c.5788G>A (p.Glu1930Lys)
c.5725G>A (p.Glu1909Lys)
c.5596G>A (p.Glu1866Lys)
c.5584G>A (p.Glu1862Lys)
c.5557G>A (p.Glu1853Lys)
n.6141G>A
c.5911G>A (p.Glu1971Lys)
c.5905G>A (p.Glu1969Lys)
c.5902G>A (p.Glu1968Lys)
c.5797G>A (p.Glu1933Lys)
c.5794G>A (p.Glu1932Lys)
n.5926G>A
n.5841G>A
n.5912G>A
 dbSNP gnomAD v2 gnomAD v4
11g.77207367G>CCA381954085MYO7Ac.5821G>C (p.Glu1941Gln)
c.3648G>C
c.5674G>C (p.Glu1892Gln)
c.3247G>C (p.Glu1083Gln)
c.5707G>C (p.Glu1903Gln)
n.3357G>C
n.735G>C
c.5704G>C (p.Glu1902Gln)
c.5812G>C (p.Glu1938Gln)
c.5815G>C (p.Glu1939Gln)
c.5788G>C (p.Glu1930Gln)
c.5725G>C (p.Glu1909Gln)
c.5596G>C (p.Glu1866Gln)
c.5584G>C (p.Glu1862Gln)
c.5557G>C (p.Glu1853Gln)
n.6141G>C
c.5911G>C (p.Glu1971Gln)
c.5905G>C (p.Glu1969Gln)
c.5902G>C (p.Glu1968Gln)
c.5797G>C (p.Glu1933Gln)
c.5794G>C (p.Glu1932Gln)
n.5926G>C
n.5841G>C
n.5912G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77207367G=CA1984127881MYO7Ac.5821G= (p.Glu1941=)
c.3648G=
c.5674G= (p.Glu1892=)
c.3247G= (p.Glu1083=)
c.5707G= (p.Glu1903=)
n.3357G=
n.735G=
c.5704G= (p.Glu1902=)
c.5812G= (p.Glu1938=)
c.5815G= (p.Glu1939=)
c.5788G= (p.Glu1930=)
c.5725G= (p.Glu1909=)
c.5596G= (p.Glu1866=)
c.5584G= (p.Glu1862=)
c.5557G= (p.Glu1853=)
n.6141G=
c.5911G= (p.Glu1971=)
c.5905G= (p.Glu1969=)
c.5902G= (p.Glu1968=)
c.5797G= (p.Glu1933=)
c.5794G= (p.Glu1932=)
n.5926G=
n.5841G=
n.5912G=
11g.77207367G>TCA381954086MYO7Ac.5821G>T (p.Glu1941Ter)
c.3648G>T
c.5674G>T (p.Glu1892Ter)
c.3247G>T (p.Glu1083Ter)
c.5707G>T (p.Glu1903Ter)
n.3357G>T
n.735G>T
c.5704G>T (p.Glu1902Ter)
c.5812G>T (p.Glu1938Ter)
c.5815G>T (p.Glu1939Ter)
c.5788G>T (p.Glu1930Ter)
c.5725G>T (p.Glu1909Ter)
c.5596G>T (p.Glu1866Ter)
c.5584G>T (p.Glu1862Ter)
c.5557G>T (p.Glu1853Ter)
n.6141G>T
c.5911G>T (p.Glu1971Ter)
c.5905G>T (p.Glu1969Ter)
c.5902G>T (p.Glu1968Ter)
c.5797G>T (p.Glu1933Ter)
c.5794G>T (p.Glu1932Ter)
n.5926G>T
n.5841G>T
n.5912G>T
11g.77207368A>CCA381954087MYO7Ac.5822A>C (p.Glu1941Ala)
c.3649A>C
c.5675A>C (p.Glu1892Ala)
c.3248A>C (p.Glu1083Ala)
c.5708A>C (p.Glu1903Ala)
n.3358A>C
n.736A>C
c.5705A>C (p.Glu1902Ala)
c.5813A>C (p.Glu1938Ala)
c.5816A>C (p.Glu1939Ala)
c.5789A>C (p.Glu1930Ala)
c.5726A>C (p.Glu1909Ala)
c.5597A>C (p.Glu1866Ala)
c.5585A>C (p.Glu1862Ala)
c.5558A>C (p.Glu1853Ala)
n.6142A>C
c.5912A>C (p.Glu1971Ala)
c.5906A>C (p.Glu1969Ala)
c.5903A>C (p.Glu1968Ala)
c.5798A>C (p.Glu1933Ala)
c.5795A>C (p.Glu1932Ala)
n.5927A>C
n.5842A>C
n.5913A>C
11g.77207368A>GCA381954088MYO7Ac.5822A>G (p.Glu1941Gly)
c.3649A>G
c.5675A>G (p.Glu1892Gly)
c.3248A>G (p.Glu1083Gly)
c.5708A>G (p.Glu1903Gly)
n.3358A>G
n.736A>G
c.5705A>G (p.Glu1902Gly)
c.5813A>G (p.Glu1938Gly)
c.5816A>G (p.Glu1939Gly)
c.5789A>G (p.Glu1930Gly)
c.5726A>G (p.Glu1909Gly)
c.5597A>G (p.Glu1866Gly)
c.5585A>G (p.Glu1862Gly)
c.5558A>G (p.Glu1853Gly)
n.6142A>G
c.5912A>G (p.Glu1971Gly)
c.5906A>G (p.Glu1969Gly)
c.5903A>G (p.Glu1968Gly)
c.5798A>G (p.Glu1933Gly)
c.5795A>G (p.Glu1932Gly)
n.5927A>G
n.5842A>G
n.5913A>G
11g.77207368A>TCA381954089MYO7Ac.5822A>T (p.Glu1941Val)
c.3649A>T
c.5675A>T (p.Glu1892Val)
c.3248A>T (p.Glu1083Val)
c.5708A>T (p.Glu1903Val)
n.3358A>T
n.736A>T
c.5705A>T (p.Glu1902Val)
c.5813A>T (p.Glu1938Val)
c.5816A>T (p.Glu1939Val)
c.5789A>T (p.Glu1930Val)
c.5726A>T (p.Glu1909Val)
c.5597A>T (p.Glu1866Val)
c.5585A>T (p.Glu1862Val)
c.5558A>T (p.Glu1853Val)
n.6142A>T
c.5912A>T (p.Glu1971Val)
c.5906A>T (p.Glu1969Val)
c.5903A>T (p.Glu1968Val)
c.5798A>T (p.Glu1933Val)
c.5795A>T (p.Glu1932Val)
n.5927A>T
n.5842A>T
n.5913A>T
11g.77207369G>ACA475797332MYO7Ac.5823G>A (p.Glu1941=)
c.3650G>A
c.5676G>A (p.Glu1892=)
c.3249G>A (p.Glu1083=)
c.5709G>A (p.Glu1903=)
n.3359G>A
n.737G>A
c.5706G>A (p.Glu1902=)
c.5814G>A (p.Glu1938=)
c.5817G>A (p.Glu1939=)
c.5790G>A (p.Glu1930=)
c.5727G>A (p.Glu1909=)
c.5598G>A (p.Glu1866=)
c.5586G>A (p.Glu1862=)
c.5559G>A (p.Glu1853=)
n.6143G>A
c.5913G>A (p.Glu1971=)
c.5907G>A (p.Glu1969=)
c.5904G>A (p.Glu1968=)
c.5799G>A (p.Glu1933=)
c.5796G>A (p.Glu1932=)
n.5928G>A
n.5843G>A
n.5914G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77207369G>CCA381954090MYO7Ac.5823G>C (p.Glu1941Asp)
c.3650G>C
c.5676G>C (p.Glu1892Asp)
c.3249G>C (p.Glu1083Asp)
c.5709G>C (p.Glu1903Asp)
n.3359G>C
n.737G>C
c.5706G>C (p.Glu1902Asp)
c.5814G>C (p.Glu1938Asp)
c.5817G>C (p.Glu1939Asp)
c.5790G>C (p.Glu1930Asp)
c.5727G>C (p.Glu1909Asp)
c.5598G>C (p.Glu1866Asp)
c.5586G>C (p.Glu1862Asp)
c.5559G>C (p.Glu1853Asp)
n.6143G>C
c.5913G>C (p.Glu1971Asp)
c.5907G>C (p.Glu1969Asp)
c.5904G>C (p.Glu1968Asp)
c.5799G>C (p.Glu1933Asp)
c.5796G>C (p.Glu1932Asp)
n.5928G>C
n.5843G>C
n.5914G>C
11g.77207369G=CA1984127882MYO7Ac.5823G= (p.Glu1941=)
c.3650G=
c.5676G= (p.Glu1892=)
c.3249G= (p.Glu1083=)
c.5709G= (p.Glu1903=)
n.3359G=
n.737G=
c.5706G= (p.Glu1902=)
c.5814G= (p.Glu1938=)
c.5817G= (p.Glu1939=)
c.5790G= (p.Glu1930=)
c.5727G= (p.Glu1909=)
c.5598G= (p.Glu1866=)
c.5586G= (p.Glu1862=)
c.5559G= (p.Glu1853=)
n.6143G=
c.5913G= (p.Glu1971=)
c.5907G= (p.Glu1969=)
c.5904G= (p.Glu1968=)
c.5799G= (p.Glu1933=)
c.5796G= (p.Glu1932=)
n.5928G=
n.5843G=
n.5914G=
11g.77207369G>TCA381954091MYO7Ac.5823G>T (p.Glu1941Asp)
c.3650G>T
c.5676G>T (p.Glu1892Asp)
c.3249G>T (p.Glu1083Asp)
c.5709G>T (p.Glu1903Asp)
n.3359G>T
n.737G>T
c.5706G>T (p.Glu1902Asp)
c.5814G>T (p.Glu1938Asp)
c.5817G>T (p.Glu1939Asp)
c.5790G>T (p.Glu1930Asp)
c.5727G>T (p.Glu1909Asp)
c.5598G>T (p.Glu1866Asp)
c.5586G>T (p.Glu1862Asp)
c.5559G>T (p.Glu1853Asp)
n.6143G>T
c.5913G>T (p.Glu1971Asp)
c.5907G>T (p.Glu1969Asp)
c.5904G>T (p.Glu1968Asp)
c.5799G>T (p.Glu1933Asp)
c.5796G>T (p.Glu1932Asp)
n.5928G>T
n.5843G>T
n.5914G>T
 gnomAD v4
11g.77207371delCA2574931820MYO7Ac.5825del (p.Gly1942AspfsTer28)
c.3652del
c.5678del (p.Gly1893AspfsTer28)
c.3251del (p.Gly1084AspfsTer28)
c.5711del (p.Gly1904AspfsTer28)
n.3361del
n.739del
c.5708del (p.Gly1903AspfsTer28)
c.5816del (p.Gly1939AspfsTer28)
c.5819del (p.Gly1940AspfsTer28)
c.5792del (p.Gly1931AspfsTer28)
c.5729del (p.Gly1910AspfsTer28)
c.5600del (p.Gly1867AspfsTer28)
c.5588del (p.Gly1863AspfsTer28)
c.5561del (p.Gly1854AspfsTer28)
n.6145del
c.5915del (p.Gly1972AspfsTer28)
c.5909del (p.Gly1970AspfsTer28)
c.5906del (p.Gly1969AspfsTer28)
c.5801del (p.Gly1934AspfsTer28)
c.5798del (p.Gly1933AspfsTer28)
n.5930del
n.5845del
n.5916del
11g.77207370G>ACA132400MYO7Ac.5824G>A (p.Gly1942Arg)
c.3651G>A
c.5677G>A (p.Gly1893Arg)
c.3250G>A (p.Gly1084Arg)
c.5710G>A (p.Gly1904Arg)
n.3360G>A
n.738G>A
c.5707G>A (p.Gly1903Arg)
c.5815G>A (p.Gly1939Arg)
c.5818G>A (p.Gly1940Arg)
c.5791G>A (p.Gly1931Arg)
c.5728G>A (p.Gly1910Arg)
c.5599G>A (p.Gly1867Arg)
c.5587G>A (p.Gly1863Arg)
c.5560G>A (p.Gly1854Arg)
n.6144G>A
c.5914G>A (p.Gly1972Arg)
c.5908G>A (p.Gly1970Arg)
c.5905G>A (p.Gly1969Arg)
c.5800G>A (p.Gly1934Arg)
c.5797G>A (p.Gly1933Arg)
n.5929G>A
n.5844G>A
n.5915G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.77207370G>CCA381954092MYO7Ac.5824G>C (p.Gly1942Arg)
c.3651G>C
c.5677G>C (p.Gly1893Arg)
c.3250G>C (p.Gly1084Arg)
c.5710G>C (p.Gly1904Arg)
n.3360G>C
n.738G>C
c.5707G>C (p.Gly1903Arg)
c.5815G>C (p.Gly1939Arg)
c.5818G>C (p.Gly1940Arg)
c.5791G>C (p.Gly1931Arg)
c.5728G>C (p.Gly1910Arg)
c.5599G>C (p.Gly1867Arg)
c.5587G>C (p.Gly1863Arg)
c.5560G>C (p.Gly1854Arg)
n.6144G>C
c.5914G>C (p.Gly1972Arg)
c.5908G>C (p.Gly1970Arg)
c.5905G>C (p.Gly1969Arg)
c.5800G>C (p.Gly1934Arg)
c.5797G>C (p.Gly1933Arg)
n.5929G>C
n.5844G>C
n.5915G>C
11g.77207370G=CA1984127883MYO7Ac.5824G= (p.Gly1942=)
c.3651G=
c.5677G= (p.Gly1893=)
c.3250G= (p.Gly1084=)
c.5710G= (p.Gly1904=)
n.3360G=
n.738G=
c.5707G= (p.Gly1903=)
c.5815G= (p.Gly1939=)
c.5818G= (p.Gly1940=)
c.5791G= (p.Gly1931=)
c.5728G= (p.Gly1910=)
c.5599G= (p.Gly1867=)
c.5587G= (p.Gly1863=)
c.5560G= (p.Gly1854=)
n.6144G=
c.5914G= (p.Gly1972=)
c.5908G= (p.Gly1970=)
c.5905G= (p.Gly1969=)
c.5800G= (p.Gly1934=)
c.5797G= (p.Gly1933=)
n.5929G=
n.5844G=
n.5915G=
11g.77207370G>TCA278693MYO7Ac.5824G>T (p.Gly1942Ter)
c.3651G>T
c.5677G>T (p.Gly1893Ter)
c.3250G>T (p.Gly1084Ter)
c.5710G>T (p.Gly1904Ter)
n.3360G>T
n.738G>T
c.5707G>T (p.Gly1903Ter)
c.5815G>T (p.Gly1939Ter)
c.5818G>T (p.Gly1940Ter)
c.5791G>T (p.Gly1931Ter)
c.5728G>T (p.Gly1910Ter)
c.5599G>T (p.Gly1867Ter)
c.5587G>T (p.Gly1863Ter)
c.5560G>T (p.Gly1854Ter)
n.6144G>T
c.5914G>T (p.Gly1972Ter)
c.5908G>T (p.Gly1970Ter)
c.5905G>T (p.Gly1969Ter)
c.5800G>T (p.Gly1934Ter)
c.5797G>T (p.Gly1933Ter)
n.5929G>T
n.5844G>T
n.5915G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched