Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.77210989_77211131delCA2792788285MYO7Ac.6052-163_6052-21del (n.6052-163_6052-21del)
c.3853-163_3853-21del
c.5905-163_5905-21del (n.5905-163_5905-21del)
c.3478-163_3478-21del (n.3478-163_3478-21del)
c.5938-163_5938-21del (n.5938-163_5938-21del)
n.3588-163_3588-21del
n.25+78_25+220del
n.1519-163_1519-21del
c.5935-163_5935-21del (n.5935-163_5935-21del)
c.6043-163_6043-21del (n.6043-163_6043-21del)
c.6046-163_6046-21del (n.6046-163_6046-21del)
c.6019-163_6019-21del (n.6019-163_6019-21del)
c.5956-163_5956-21del (n.5956-163_5956-21del)
c.5827-163_5827-21del (n.5827-163_5827-21del)
c.5815-163_5815-21del (n.5815-163_5815-21del)
c.5788-163_5788-21del (n.5788-163_5788-21del)
n.6372-163_6372-21del
n.6346-163_6346-21del
c.6142-163_6142-21del (n.6142-163_6142-21del)
c.6136-163_6136-21del (n.6136-163_6136-21del)
c.6133-163_6133-21del (n.6133-163_6133-21del)
c.6028-163_6028-21del (n.6028-163_6028-21del)
c.6025-163_6025-21del (n.6025-163_6025-21del)
n.6131-163_6131-21del
n.6072-163_6072-21del
n.6117-163_6117-21del
11g.77211117_77211130delCA600710907MYO7Ac.6052-35_6052-22del (n.6052-35_6052-22del)
c.3853-35_3853-22del
c.5905-35_5905-22del (n.5905-35_5905-22del)
c.3478-35_3478-22del (n.3478-35_3478-22del)
c.5938-35_5938-22del (n.5938-35_5938-22del)
n.3588-35_3588-22del
n.25+206_25+219del
n.1519-35_1519-22del
c.5935-35_5935-22del (n.5935-35_5935-22del)
c.6043-35_6043-22del (n.6043-35_6043-22del)
c.6046-35_6046-22del (n.6046-35_6046-22del)
c.6019-35_6019-22del (n.6019-35_6019-22del)
c.5956-35_5956-22del (n.5956-35_5956-22del)
c.5827-35_5827-22del (n.5827-35_5827-22del)
c.5815-35_5815-22del (n.5815-35_5815-22del)
c.5788-35_5788-22del (n.5788-35_5788-22del)
n.6372-35_6372-22del
n.6346-35_6346-22del
c.6142-35_6142-22del (n.6142-35_6142-22del)
c.6136-35_6136-22del (n.6136-35_6136-22del)
c.6133-35_6133-22del (n.6133-35_6133-22del)
c.6028-35_6028-22del (n.6028-35_6028-22del)
c.6025-35_6025-22del (n.6025-35_6025-22del)
n.6131-35_6131-22del
n.6072-35_6072-22del
n.6117-35_6117-22del
 dbSNP gnomAD v2
11g.77211130T>ACA680426887MYO7Ac.6052-22T>A (n.6052-22T>A)
c.3853-22T>A
c.5905-22T>A (n.5905-22T>A)
c.3478-22T>A (n.3478-22T>A)
c.5938-22T>A (n.5938-22T>A)
n.3588-22T>A
n.25+219T>A
n.1519-22T>A
c.5935-22T>A (n.5935-22T>A)
c.6043-22T>A (n.6043-22T>A)
c.6046-22T>A (n.6046-22T>A)
c.6019-22T>A (n.6019-22T>A)
c.5956-22T>A (n.5956-22T>A)
c.5827-22T>A (n.5827-22T>A)
c.5815-22T>A (n.5815-22T>A)
c.5788-22T>A (n.5788-22T>A)
n.6372-22T>A
n.6346-22T>A
c.6142-22T>A (n.6142-22T>A)
c.6136-22T>A (n.6136-22T>A)
c.6133-22T>A (n.6133-22T>A)
c.6028-22T>A (n.6028-22T>A)
c.6025-22T>A (n.6025-22T>A)
n.6131-22T>A
n.6072-22T>A
n.6117-22T>A
 dbSNP gnomAD v4
11g.77211130T>CCA2615262318MYO7Ac.6052-22T>C (n.6052-22T>C)
c.3853-22T>C
c.5905-22T>C (n.5905-22T>C)
c.3478-22T>C (n.3478-22T>C)
c.5938-22T>C (n.5938-22T>C)
n.3588-22T>C
n.25+219T>C
n.1519-22T>C
c.5935-22T>C (n.5935-22T>C)
c.6043-22T>C (n.6043-22T>C)
c.6046-22T>C (n.6046-22T>C)
c.6019-22T>C (n.6019-22T>C)
c.5956-22T>C (n.5956-22T>C)
c.5827-22T>C (n.5827-22T>C)
c.5815-22T>C (n.5815-22T>C)
c.5788-22T>C (n.5788-22T>C)
n.6372-22T>C
n.6346-22T>C
c.6142-22T>C (n.6142-22T>C)
c.6136-22T>C (n.6136-22T>C)
c.6133-22T>C (n.6133-22T>C)
c.6028-22T>C (n.6028-22T>C)
c.6025-22T>C (n.6025-22T>C)
n.6131-22T>C
n.6072-22T>C
n.6117-22T>C
 gnomAD v4
11g.77211130T>GCA2574931905MYO7Ac.6052-22T>G (n.6052-22T>G)
c.3853-22T>G
c.5905-22T>G (n.5905-22T>G)
c.3478-22T>G (n.3478-22T>G)
c.5938-22T>G (n.5938-22T>G)
n.3588-22T>G
n.25+219T>G
n.1519-22T>G
c.5935-22T>G (n.5935-22T>G)
c.6043-22T>G (n.6043-22T>G)
c.6046-22T>G (n.6046-22T>G)
c.6019-22T>G (n.6019-22T>G)
c.5956-22T>G (n.5956-22T>G)
c.5827-22T>G (n.5827-22T>G)
c.5815-22T>G (n.5815-22T>G)
c.5788-22T>G (n.5788-22T>G)
n.6372-22T>G
n.6346-22T>G
c.6142-22T>G (n.6142-22T>G)
c.6136-22T>G (n.6136-22T>G)
c.6133-22T>G (n.6133-22T>G)
c.6028-22T>G (n.6028-22T>G)
c.6025-22T>G (n.6025-22T>G)
n.6131-22T>G
n.6072-22T>G
n.6117-22T>G
 gnomAD v4
11g.77211130T=CA1984129804MYO7Ac.6052-22T= (n.6052-22T=)
c.3853-22T=
c.5905-22T= (n.5905-22T=)
c.3478-22T= (n.3478-22T=)
c.5938-22T= (n.5938-22T=)
n.3588-22T=
n.25+219T=
n.1519-22T=
c.5935-22T= (n.5935-22T=)
c.6043-22T= (n.6043-22T=)
c.6046-22T= (n.6046-22T=)
c.6019-22T= (n.6019-22T=)
c.5956-22T= (n.5956-22T=)
c.5827-22T= (n.5827-22T=)
c.5815-22T= (n.5815-22T=)
c.5788-22T= (n.5788-22T=)
n.6372-22T=
n.6346-22T=
c.6142-22T= (n.6142-22T=)
c.6136-22T= (n.6136-22T=)
c.6133-22T= (n.6133-22T=)
c.6028-22T= (n.6028-22T=)
c.6025-22T= (n.6025-22T=)
n.6131-22T=
n.6072-22T=
n.6117-22T=
11g.77211131G>ACA2615262319MYO7Ac.6052-21G>A (n.6052-21G>A)
c.3853-21G>A
c.5905-21G>A (n.5905-21G>A)
c.3478-21G>A (n.3478-21G>A)
c.5938-21G>A (n.5938-21G>A)
n.3588-21G>A
n.25+220G>A
n.1519-21G>A
c.5935-21G>A (n.5935-21G>A)
c.6043-21G>A (n.6043-21G>A)
c.6046-21G>A (n.6046-21G>A)
c.6019-21G>A (n.6019-21G>A)
c.5956-21G>A (n.5956-21G>A)
c.5827-21G>A (n.5827-21G>A)
c.5815-21G>A (n.5815-21G>A)
c.5788-21G>A (n.5788-21G>A)
n.6372-21G>A
n.6346-21G>A
c.6142-21G>A (n.6142-21G>A)
c.6136-21G>A (n.6136-21G>A)
c.6133-21G>A (n.6133-21G>A)
c.6028-21G>A (n.6028-21G>A)
c.6025-21G>A (n.6025-21G>A)
n.6131-21G>A
n.6072-21G>A
n.6117-21G>A
 gnomAD v4
11g.77211131G>TCA2574931906MYO7Ac.6052-21G>T (n.6052-21G>T)
c.3853-21G>T
c.5905-21G>T (n.5905-21G>T)
c.3478-21G>T (n.3478-21G>T)
c.5938-21G>T (n.5938-21G>T)
n.3588-21G>T
n.25+220G>T
n.1519-21G>T
c.5935-21G>T (n.5935-21G>T)
c.6043-21G>T (n.6043-21G>T)
c.6046-21G>T (n.6046-21G>T)
c.6019-21G>T (n.6019-21G>T)
c.5956-21G>T (n.5956-21G>T)
c.5827-21G>T (n.5827-21G>T)
c.5815-21G>T (n.5815-21G>T)
c.5788-21G>T (n.5788-21G>T)
n.6372-21G>T
n.6346-21G>T
c.6142-21G>T (n.6142-21G>T)
c.6136-21G>T (n.6136-21G>T)
c.6133-21G>T (n.6133-21G>T)
c.6028-21G>T (n.6028-21G>T)
c.6025-21G>T (n.6025-21G>T)
n.6131-21G>T
n.6072-21G>T
n.6117-21G>T
 gnomAD v4
11g.77211133C>ACA600710910MYO7Ac.6052-19C>A (n.6052-19C>A)
c.3853-19C>A
c.5905-19C>A (n.5905-19C>A)
c.3478-19C>A (n.3478-19C>A)
c.5938-19C>A (n.5938-19C>A)
n.3588-19C>A
n.25+222C>A
n.1519-19C>A
c.5935-19C>A (n.5935-19C>A)
c.6043-19C>A (n.6043-19C>A)
c.6046-19C>A (n.6046-19C>A)
c.6019-19C>A (n.6019-19C>A)
c.5956-19C>A (n.5956-19C>A)
c.5827-19C>A (n.5827-19C>A)
c.5815-19C>A (n.5815-19C>A)
c.5788-19C>A (n.5788-19C>A)
n.6372-19C>A
n.6346-19C>A
c.6142-19C>A (n.6142-19C>A)
c.6136-19C>A (n.6136-19C>A)
c.6133-19C>A (n.6133-19C>A)
c.6028-19C>A (n.6028-19C>A)
c.6025-19C>A (n.6025-19C>A)
n.6131-19C>A
n.6072-19C>A
n.6117-19C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77211133C=CA1984129805MYO7Ac.6052-19C= (n.6052-19C=)
c.3853-19C=
c.5905-19C= (n.5905-19C=)
c.3478-19C= (n.3478-19C=)
c.5938-19C= (n.5938-19C=)
n.3588-19C=
n.25+222C=
n.1519-19C=
c.5935-19C= (n.5935-19C=)
c.6043-19C= (n.6043-19C=)
c.6046-19C= (n.6046-19C=)
c.6019-19C= (n.6019-19C=)
c.5956-19C= (n.5956-19C=)
c.5827-19C= (n.5827-19C=)
c.5815-19C= (n.5815-19C=)
c.5788-19C= (n.5788-19C=)
n.6372-19C=
n.6346-19C=
c.6142-19C= (n.6142-19C=)
c.6136-19C= (n.6136-19C=)
c.6133-19C= (n.6133-19C=)
c.6028-19C= (n.6028-19C=)
c.6025-19C= (n.6025-19C=)
n.6131-19C=
n.6072-19C=
n.6117-19C=
11g.77211133C>GCA600710911MYO7Ac.6052-19C>G (n.6052-19C>G)
c.3853-19C>G
c.5905-19C>G (n.5905-19C>G)
c.3478-19C>G (n.3478-19C>G)
c.5938-19C>G (n.5938-19C>G)
n.3588-19C>G
n.25+222C>G
n.1519-19C>G
c.5935-19C>G (n.5935-19C>G)
c.6043-19C>G (n.6043-19C>G)
c.6046-19C>G (n.6046-19C>G)
c.6019-19C>G (n.6019-19C>G)
c.5956-19C>G (n.5956-19C>G)
c.5827-19C>G (n.5827-19C>G)
c.5815-19C>G (n.5815-19C>G)
c.5788-19C>G (n.5788-19C>G)
n.6372-19C>G
n.6346-19C>G
c.6142-19C>G (n.6142-19C>G)
c.6136-19C>G (n.6136-19C>G)
c.6133-19C>G (n.6133-19C>G)
c.6028-19C>G (n.6028-19C>G)
c.6025-19C>G (n.6025-19C>G)
n.6131-19C>G
n.6072-19C>G
n.6117-19C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77211133C>TCA2615262321MYO7Ac.6052-19C>T (n.6052-19C>T)
c.3853-19C>T
c.5905-19C>T (n.5905-19C>T)
c.3478-19C>T (n.3478-19C>T)
c.5938-19C>T (n.5938-19C>T)
n.3588-19C>T
n.25+222C>T
n.1519-19C>T
c.5935-19C>T (n.5935-19C>T)
c.6043-19C>T (n.6043-19C>T)
c.6046-19C>T (n.6046-19C>T)
c.6019-19C>T (n.6019-19C>T)
c.5956-19C>T (n.5956-19C>T)
c.5827-19C>T (n.5827-19C>T)
c.5815-19C>T (n.5815-19C>T)
c.5788-19C>T (n.5788-19C>T)
n.6372-19C>T
n.6346-19C>T
c.6142-19C>T (n.6142-19C>T)
c.6136-19C>T (n.6136-19C>T)
c.6133-19C>T (n.6133-19C>T)
c.6028-19C>T (n.6028-19C>T)
c.6025-19C>T (n.6025-19C>T)
n.6131-19C>T
n.6072-19C>T
n.6117-19C>T
 gnomAD v4
11g.77211134C>ACA2615262325MYO7Ac.6052-18C>A (n.6052-18C>A)
c.3853-18C>A
c.5905-18C>A (n.5905-18C>A)
c.3478-18C>A (n.3478-18C>A)
c.5938-18C>A (n.5938-18C>A)
n.3588-18C>A
n.25+223C>A
n.1519-18C>A
c.5935-18C>A (n.5935-18C>A)
c.6043-18C>A (n.6043-18C>A)
c.6046-18C>A (n.6046-18C>A)
c.6019-18C>A (n.6019-18C>A)
c.5956-18C>A (n.5956-18C>A)
c.5827-18C>A (n.5827-18C>A)
c.5815-18C>A (n.5815-18C>A)
c.5788-18C>A (n.5788-18C>A)
n.6372-18C>A
n.6346-18C>A
c.6142-18C>A (n.6142-18C>A)
c.6136-18C>A (n.6136-18C>A)
c.6133-18C>A (n.6133-18C>A)
c.6028-18C>A (n.6028-18C>A)
c.6025-18C>A (n.6025-18C>A)
n.6131-18C>A
n.6072-18C>A
n.6117-18C>A
 gnomAD v4
11g.77211134C=CA1984129806MYO7Ac.6052-18C= (n.6052-18C=)
c.3853-18C=
c.5905-18C= (n.5905-18C=)
c.3478-18C= (n.3478-18C=)
c.5938-18C= (n.5938-18C=)
n.3588-18C=
n.25+223C=
n.1519-18C=
c.5935-18C= (n.5935-18C=)
c.6043-18C= (n.6043-18C=)
c.6046-18C= (n.6046-18C=)
c.6019-18C= (n.6019-18C=)
c.5956-18C= (n.5956-18C=)
c.5827-18C= (n.5827-18C=)
c.5815-18C= (n.5815-18C=)
c.5788-18C= (n.5788-18C=)
n.6372-18C=
n.6346-18C=
c.6142-18C= (n.6142-18C=)
c.6136-18C= (n.6136-18C=)
c.6133-18C= (n.6133-18C=)
c.6028-18C= (n.6028-18C=)
c.6025-18C= (n.6025-18C=)
n.6131-18C=
n.6072-18C=
n.6117-18C=
11g.77211134C>GCA2615262327MYO7Ac.6052-18C>G (n.6052-18C>G)
c.3853-18C>G
c.5905-18C>G (n.5905-18C>G)
c.3478-18C>G (n.3478-18C>G)
c.5938-18C>G (n.5938-18C>G)
n.3588-18C>G
n.25+223C>G
n.1519-18C>G
c.5935-18C>G (n.5935-18C>G)
c.6043-18C>G (n.6043-18C>G)
c.6046-18C>G (n.6046-18C>G)
c.6019-18C>G (n.6019-18C>G)
c.5956-18C>G (n.5956-18C>G)
c.5827-18C>G (n.5827-18C>G)
c.5815-18C>G (n.5815-18C>G)
c.5788-18C>G (n.5788-18C>G)
n.6372-18C>G
n.6346-18C>G
c.6142-18C>G (n.6142-18C>G)
c.6136-18C>G (n.6136-18C>G)
c.6133-18C>G (n.6133-18C>G)
c.6028-18C>G (n.6028-18C>G)
c.6025-18C>G (n.6025-18C>G)
n.6131-18C>G
n.6072-18C>G
n.6117-18C>G
 gnomAD v4
11g.77211134C>TCA1984129807MYO7Ac.6052-18C>T (n.6052-18C>T)
c.3853-18C>T
c.5905-18C>T (n.5905-18C>T)
c.3478-18C>T (n.3478-18C>T)
c.5938-18C>T (n.5938-18C>T)
n.3588-18C>T
n.25+223C>T
n.1519-18C>T
c.5935-18C>T (n.5935-18C>T)
c.6043-18C>T (n.6043-18C>T)
c.6046-18C>T (n.6046-18C>T)
c.6019-18C>T (n.6019-18C>T)
c.5956-18C>T (n.5956-18C>T)
c.5827-18C>T (n.5827-18C>T)
c.5815-18C>T (n.5815-18C>T)
c.5788-18C>T (n.5788-18C>T)
n.6372-18C>T
n.6346-18C>T
c.6142-18C>T (n.6142-18C>T)
c.6136-18C>T (n.6136-18C>T)
c.6133-18C>T (n.6133-18C>T)
c.6028-18C>T (n.6028-18C>T)
c.6025-18C>T (n.6025-18C>T)
n.6131-18C>T
n.6072-18C>T
n.6117-18C>T
 ClinVar dbSNP
11g.77211135T>CCA2615262330MYO7Ac.6052-17T>C (n.6052-17T>C)
c.3853-17T>C
c.5905-17T>C (n.5905-17T>C)
c.3478-17T>C (n.3478-17T>C)
c.5938-17T>C (n.5938-17T>C)
n.3588-17T>C
n.25+224T>C
n.1519-17T>C
c.5935-17T>C (n.5935-17T>C)
c.6043-17T>C (n.6043-17T>C)
c.6046-17T>C (n.6046-17T>C)
c.6019-17T>C (n.6019-17T>C)
c.5956-17T>C (n.5956-17T>C)
c.5827-17T>C (n.5827-17T>C)
c.5815-17T>C (n.5815-17T>C)
c.5788-17T>C (n.5788-17T>C)
n.6372-17T>C
n.6346-17T>C
c.6142-17T>C (n.6142-17T>C)
c.6136-17T>C (n.6136-17T>C)
c.6133-17T>C (n.6133-17T>C)
c.6028-17T>C (n.6028-17T>C)
c.6025-17T>C (n.6025-17T>C)
n.6131-17T>C
n.6072-17T>C
n.6117-17T>C
 gnomAD v4
11g.77211135T>GCA2499221343MYO7Ac.6052-17T>G (n.6052-17T>G)
c.3853-17T>G
c.5905-17T>G (n.5905-17T>G)
c.3478-17T>G (n.3478-17T>G)
c.5938-17T>G (n.5938-17T>G)
n.3588-17T>G
n.25+224T>G
n.1519-17T>G
c.5935-17T>G (n.5935-17T>G)
c.6043-17T>G (n.6043-17T>G)
c.6046-17T>G (n.6046-17T>G)
c.6019-17T>G (n.6019-17T>G)
c.5956-17T>G (n.5956-17T>G)
c.5827-17T>G (n.5827-17T>G)
c.5815-17T>G (n.5815-17T>G)
c.5788-17T>G (n.5788-17T>G)
n.6372-17T>G
n.6346-17T>G
c.6142-17T>G (n.6142-17T>G)
c.6136-17T>G (n.6136-17T>G)
c.6133-17T>G (n.6133-17T>G)
c.6028-17T>G (n.6028-17T>G)
c.6025-17T>G (n.6025-17T>G)
n.6131-17T>G
n.6072-17T>G
n.6117-17T>G
 ClinVar dbSNP
11g.77211136G>ACA680426897MYO7Ac.6052-16G>A (n.6052-16G>A)
c.3853-16G>A
c.5905-16G>A (n.5905-16G>A)
c.3478-16G>A (n.3478-16G>A)
c.5938-16G>A (n.5938-16G>A)
n.3588-16G>A
n.25+225G>A
n.1519-16G>A
c.5935-16G>A (n.5935-16G>A)
c.6043-16G>A (n.6043-16G>A)
c.6046-16G>A (n.6046-16G>A)
c.6019-16G>A (n.6019-16G>A)
c.5956-16G>A (n.5956-16G>A)
c.5827-16G>A (n.5827-16G>A)
c.5815-16G>A (n.5815-16G>A)
c.5788-16G>A (n.5788-16G>A)
n.6372-16G>A
n.6346-16G>A
c.6142-16G>A (n.6142-16G>A)
c.6136-16G>A (n.6136-16G>A)
c.6133-16G>A (n.6133-16G>A)
c.6028-16G>A (n.6028-16G>A)
c.6025-16G>A (n.6025-16G>A)
n.6131-16G>A
n.6072-16G>A
n.6117-16G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77211136G=CA1984129809MYO7Ac.6052-16G= (n.6052-16G=)
c.3853-16G=
c.5905-16G= (n.5905-16G=)
c.3478-16G= (n.3478-16G=)
c.5938-16G= (n.5938-16G=)
n.3588-16G=
n.25+225G=
n.1519-16G=
c.5935-16G= (n.5935-16G=)
c.6043-16G= (n.6043-16G=)
c.6046-16G= (n.6046-16G=)
c.6019-16G= (n.6019-16G=)
c.5956-16G= (n.5956-16G=)
c.5827-16G= (n.5827-16G=)
c.5815-16G= (n.5815-16G=)
c.5788-16G= (n.5788-16G=)
n.6372-16G=
n.6346-16G=
c.6142-16G= (n.6142-16G=)
c.6136-16G= (n.6136-16G=)
c.6133-16G= (n.6133-16G=)
c.6028-16G= (n.6028-16G=)
c.6025-16G= (n.6025-16G=)
n.6131-16G=
n.6072-16G=
n.6117-16G=
11g.77211136G>TCA2615262335MYO7Ac.6052-16G>T (n.6052-16G>T)
c.3853-16G>T
c.5905-16G>T (n.5905-16G>T)
c.3478-16G>T (n.3478-16G>T)
c.5938-16G>T (n.5938-16G>T)
n.3588-16G>T
n.25+225G>T
n.1519-16G>T
c.5935-16G>T (n.5935-16G>T)
c.6043-16G>T (n.6043-16G>T)
c.6046-16G>T (n.6046-16G>T)
c.6019-16G>T (n.6019-16G>T)
c.5956-16G>T (n.5956-16G>T)
c.5827-16G>T (n.5827-16G>T)
c.5815-16G>T (n.5815-16G>T)
c.5788-16G>T (n.5788-16G>T)
n.6372-16G>T
n.6346-16G>T
c.6142-16G>T (n.6142-16G>T)
c.6136-16G>T (n.6136-16G>T)
c.6133-16G>T (n.6133-16G>T)
c.6028-16G>T (n.6028-16G>T)
c.6025-16G>T (n.6025-16G>T)
n.6131-16G>T
n.6072-16G>T
n.6117-16G>T
 gnomAD v4
11g.77211136_77211142delinsGCTCTGTCA1984129808MYO7Ac.6052-16_6052-10delinsGCTCTGT (n.6052-16_6052-10delinsGCTCTGT)
c.3853-16_3853-10delinsGCTCTGT
c.5905-16_5905-10delinsGCTCTGT (n.5905-16_5905-10delinsGCTCTGT)
c.3478-16_3478-10delinsGCTCTGT (n.3478-16_3478-10delinsGCTCTGT)
c.5938-16_5938-10delinsGCTCTGT (n.5938-16_5938-10delinsGCTCTGT)
n.3588-16_3588-10delinsGCTCTGT
n.25+225_25+231delinsGCTCTGT
n.1519-16_1519-10delinsGCTCTGT
c.5935-16_5935-10delinsGCTCTGT (n.5935-16_5935-10delinsGCTCTGT)
c.6043-16_6043-10delinsGCTCTGT (n.6043-16_6043-10delinsGCTCTGT)
c.6046-16_6046-10delinsGCTCTGT (n.6046-16_6046-10delinsGCTCTGT)
c.6019-16_6019-10delinsGCTCTGT (n.6019-16_6019-10delinsGCTCTGT)
c.5956-16_5956-10delinsGCTCTGT (n.5956-16_5956-10delinsGCTCTGT)
c.5827-16_5827-10delinsGCTCTGT (n.5827-16_5827-10delinsGCTCTGT)
c.5815-16_5815-10delinsGCTCTGT (n.5815-16_5815-10delinsGCTCTGT)
c.5788-16_5788-10delinsGCTCTGT (n.5788-16_5788-10delinsGCTCTGT)
n.6372-16_6372-10delinsGCTCTGT
n.6346-16_6346-10delinsGCTCTGT
c.6142-16_6142-10delinsGCTCTGT (n.6142-16_6142-10delinsGCTCTGT)
c.6136-16_6136-10delinsGCTCTGT (n.6136-16_6136-10delinsGCTCTGT)
c.6133-16_6133-10delinsGCTCTGT (n.6133-16_6133-10delinsGCTCTGT)
c.6028-16_6028-10delinsGCTCTGT (n.6028-16_6028-10delinsGCTCTGT)
c.6025-16_6025-10delinsGCTCTGT (n.6025-16_6025-10delinsGCTCTGT)
n.6131-16_6131-10delinsGCTCTGT
n.6072-16_6072-10delinsGCTCTGT
n.6117-16_6117-10delinsGCTCTGT
11g.77211137C>ACA2615262343MYO7Ac.6052-15C>A (n.6052-15C>A)
c.3853-15C>A
c.5905-15C>A (n.5905-15C>A)
c.3478-15C>A (n.3478-15C>A)
c.5938-15C>A (n.5938-15C>A)
n.3588-15C>A
n.25+226C>A
n.1519-15C>A
c.5935-15C>A (n.5935-15C>A)
c.6043-15C>A (n.6043-15C>A)
c.6046-15C>A (n.6046-15C>A)
c.6019-15C>A (n.6019-15C>A)
c.5956-15C>A (n.5956-15C>A)
c.5827-15C>A (n.5827-15C>A)
c.5815-15C>A (n.5815-15C>A)
c.5788-15C>A (n.5788-15C>A)
n.6372-15C>A
n.6346-15C>A
c.6142-15C>A (n.6142-15C>A)
c.6136-15C>A (n.6136-15C>A)
c.6133-15C>A (n.6133-15C>A)
c.6028-15C>A (n.6028-15C>A)
c.6025-15C>A (n.6025-15C>A)
n.6131-15C>A
n.6072-15C>A
n.6117-15C>A
 gnomAD v4
11g.77211137C=CA1984129810MYO7Ac.6052-15C= (n.6052-15C=)
c.3853-15C=
c.5905-15C= (n.5905-15C=)
c.3478-15C= (n.3478-15C=)
c.5938-15C= (n.5938-15C=)
n.3588-15C=
n.25+226C=
n.1519-15C=
c.5935-15C= (n.5935-15C=)
c.6043-15C= (n.6043-15C=)
c.6046-15C= (n.6046-15C=)
c.6019-15C= (n.6019-15C=)
c.5956-15C= (n.5956-15C=)
c.5827-15C= (n.5827-15C=)
c.5815-15C= (n.5815-15C=)
c.5788-15C= (n.5788-15C=)
n.6372-15C=
n.6346-15C=
c.6142-15C= (n.6142-15C=)
c.6136-15C= (n.6136-15C=)
c.6133-15C= (n.6133-15C=)
c.6028-15C= (n.6028-15C=)
c.6025-15C= (n.6025-15C=)
n.6131-15C=
n.6072-15C=
n.6117-15C=
11g.77211137C>TCA600710912MYO7Ac.6052-15C>T (n.6052-15C>T)
c.3853-15C>T
c.5905-15C>T (n.5905-15C>T)
c.3478-15C>T (n.3478-15C>T)
c.5938-15C>T (n.5938-15C>T)
n.3588-15C>T
n.25+226C>T
n.1519-15C>T
c.5935-15C>T (n.5935-15C>T)
c.6043-15C>T (n.6043-15C>T)
c.6046-15C>T (n.6046-15C>T)
c.6019-15C>T (n.6019-15C>T)
c.5956-15C>T (n.5956-15C>T)
c.5827-15C>T (n.5827-15C>T)
c.5815-15C>T (n.5815-15C>T)
c.5788-15C>T (n.5788-15C>T)
n.6372-15C>T
n.6346-15C>T
c.6142-15C>T (n.6142-15C>T)
c.6136-15C>T (n.6136-15C>T)
c.6133-15C>T (n.6133-15C>T)
c.6028-15C>T (n.6028-15C>T)
c.6025-15C>T (n.6025-15C>T)
n.6131-15C>T
n.6072-15C>T
n.6117-15C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.77211142_77211147delCA6198920MYO7Ac.6052-10_6052-5del (n.6052-10_6052-5del)
c.3853-10_3853-5del
c.5905-10_5905-5del (n.5905-10_5905-5del)
c.3478-10_3478-5del (n.3478-10_3478-5del)
c.5938-10_5938-5del (n.5938-10_5938-5del)
n.3588-10_3588-5del
n.25+231_25+236del
n.1519-10_1519-5del
c.5935-10_5935-5del (n.5935-10_5935-5del)
c.6043-10_6043-5del (n.6043-10_6043-5del)
c.6046-10_6046-5del (n.6046-10_6046-5del)
c.6019-10_6019-5del (n.6019-10_6019-5del)
c.5956-10_5956-5del (n.5956-10_5956-5del)
c.5827-10_5827-5del (n.5827-10_5827-5del)
c.5815-10_5815-5del (n.5815-10_5815-5del)
c.5788-10_5788-5del (n.5788-10_5788-5del)
n.6372-10_6372-5del
n.6346-10_6346-5del
c.6142-10_6142-5del (n.6142-10_6142-5del)
c.6136-10_6136-5del (n.6136-10_6136-5del)
c.6133-10_6133-5del (n.6133-10_6133-5del)
c.6028-10_6028-5del (n.6028-10_6028-5del)
c.6025-10_6025-5del (n.6025-10_6025-5del)
n.6131-10_6131-5del
n.6072-10_6072-5del
n.6117-10_6117-5del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77211138T>CCA600710913MYO7Ac.6052-14T>C (n.6052-14T>C)
c.3853-14T>C
c.5905-14T>C (n.5905-14T>C)
c.3478-14T>C (n.3478-14T>C)
c.5938-14T>C (n.5938-14T>C)
n.3588-14T>C
n.25+227T>C
n.1519-14T>C
c.5935-14T>C (n.5935-14T>C)
c.6043-14T>C (n.6043-14T>C)
c.6046-14T>C (n.6046-14T>C)
c.6019-14T>C (n.6019-14T>C)
c.5956-14T>C (n.5956-14T>C)
c.5827-14T>C (n.5827-14T>C)
c.5815-14T>C (n.5815-14T>C)
c.5788-14T>C (n.5788-14T>C)
n.6372-14T>C
n.6346-14T>C
c.6142-14T>C (n.6142-14T>C)
c.6136-14T>C (n.6136-14T>C)
c.6133-14T>C (n.6133-14T>C)
c.6028-14T>C (n.6028-14T>C)
c.6025-14T>C (n.6025-14T>C)
n.6131-14T>C
n.6072-14T>C
n.6117-14T>C
 dbSNP gnomAD v2 gnomAD v4
11g.77211138T=CA1984129811MYO7Ac.6052-14T= (n.6052-14T=)
c.3853-14T=
c.5905-14T= (n.5905-14T=)
c.3478-14T= (n.3478-14T=)
c.5938-14T= (n.5938-14T=)
n.3588-14T=
n.25+227T=
n.1519-14T=
c.5935-14T= (n.5935-14T=)
c.6043-14T= (n.6043-14T=)
c.6046-14T= (n.6046-14T=)
c.6019-14T= (n.6019-14T=)
c.5956-14T= (n.5956-14T=)
c.5827-14T= (n.5827-14T=)
c.5815-14T= (n.5815-14T=)
c.5788-14T= (n.5788-14T=)
n.6372-14T=
n.6346-14T=
c.6142-14T= (n.6142-14T=)
c.6136-14T= (n.6136-14T=)
c.6133-14T= (n.6133-14T=)
c.6028-14T= (n.6028-14T=)
c.6025-14T= (n.6025-14T=)
n.6131-14T=
n.6072-14T=
n.6117-14T=
11g.77211139C>ACA2615262350MYO7Ac.6052-13C>A (n.6052-13C>A)
c.3853-13C>A
c.5905-13C>A (n.5905-13C>A)
c.3478-13C>A (n.3478-13C>A)
c.5938-13C>A (n.5938-13C>A)
n.3588-13C>A
n.25+228C>A
n.1519-13C>A
c.5935-13C>A (n.5935-13C>A)
c.6043-13C>A (n.6043-13C>A)
c.6046-13C>A (n.6046-13C>A)
c.6019-13C>A (n.6019-13C>A)
c.5956-13C>A (n.5956-13C>A)
c.5827-13C>A (n.5827-13C>A)
c.5815-13C>A (n.5815-13C>A)
c.5788-13C>A (n.5788-13C>A)
n.6372-13C>A
n.6346-13C>A
c.6142-13C>A (n.6142-13C>A)
c.6136-13C>A (n.6136-13C>A)
c.6133-13C>A (n.6133-13C>A)
c.6028-13C>A (n.6028-13C>A)
c.6025-13C>A (n.6025-13C>A)
n.6131-13C>A
n.6072-13C>A
n.6117-13C>A
 gnomAD v4
11g.77211139C=CA1984129812MYO7Ac.6052-13C= (n.6052-13C=)
c.3853-13C=
c.5905-13C= (n.5905-13C=)
c.3478-13C= (n.3478-13C=)
c.5938-13C= (n.5938-13C=)
n.3588-13C=
n.25+228C=
n.1519-13C=
c.5935-13C= (n.5935-13C=)
c.6043-13C= (n.6043-13C=)
c.6046-13C= (n.6046-13C=)
c.6019-13C= (n.6019-13C=)
c.5956-13C= (n.5956-13C=)
c.5827-13C= (n.5827-13C=)
c.5815-13C= (n.5815-13C=)
c.5788-13C= (n.5788-13C=)
n.6372-13C=
n.6346-13C=
c.6142-13C= (n.6142-13C=)
c.6136-13C= (n.6136-13C=)
c.6133-13C= (n.6133-13C=)
c.6028-13C= (n.6028-13C=)
c.6025-13C= (n.6025-13C=)
n.6131-13C=
n.6072-13C=
n.6117-13C=
11g.77211139C>GCA6198921MYO7Ac.6052-13C>G (n.6052-13C>G)
c.3853-13C>G
c.5905-13C>G (n.5905-13C>G)
c.3478-13C>G (n.3478-13C>G)
c.5938-13C>G (n.5938-13C>G)
n.3588-13C>G
n.25+228C>G
n.1519-13C>G
c.5935-13C>G (n.5935-13C>G)
c.6043-13C>G (n.6043-13C>G)
c.6046-13C>G (n.6046-13C>G)
c.6019-13C>G (n.6019-13C>G)
c.5956-13C>G (n.5956-13C>G)
c.5827-13C>G (n.5827-13C>G)
c.5815-13C>G (n.5815-13C>G)
c.5788-13C>G (n.5788-13C>G)
n.6372-13C>G
n.6346-13C>G
c.6142-13C>G (n.6142-13C>G)
c.6136-13C>G (n.6136-13C>G)
c.6133-13C>G (n.6133-13C>G)
c.6028-13C>G (n.6028-13C>G)
c.6025-13C>G (n.6025-13C>G)
n.6131-13C>G
n.6072-13C>G
n.6117-13C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.77211139C>TCA1984129813MYO7Ac.6052-13C>T (n.6052-13C>T)
c.3853-13C>T
c.5905-13C>T (n.5905-13C>T)
c.3478-13C>T (n.3478-13C>T)
c.5938-13C>T (n.5938-13C>T)
n.3588-13C>T
n.25+228C>T
n.1519-13C>T
c.5935-13C>T (n.5935-13C>T)
c.6043-13C>T (n.6043-13C>T)
c.6046-13C>T (n.6046-13C>T)
c.6019-13C>T (n.6019-13C>T)
c.5956-13C>T (n.5956-13C>T)
c.5827-13C>T (n.5827-13C>T)
c.5815-13C>T (n.5815-13C>T)
c.5788-13C>T (n.5788-13C>T)
n.6372-13C>T
n.6346-13C>T
c.6142-13C>T (n.6142-13C>T)
c.6136-13C>T (n.6136-13C>T)
c.6133-13C>T (n.6133-13C>T)
c.6028-13C>T (n.6028-13C>T)
c.6025-13C>T (n.6025-13C>T)
n.6131-13C>T
n.6072-13C>T
n.6117-13C>T
 ClinVar dbSNP gnomAD v4
11g.77211140T>CCA2615262352MYO7Ac.6052-12T>C (n.6052-12T>C)
c.3853-12T>C
c.5905-12T>C (n.5905-12T>C)
c.3478-12T>C (n.3478-12T>C)
c.5938-12T>C (n.5938-12T>C)
n.3588-12T>C
n.25+229T>C
n.1519-12T>C
c.5935-12T>C (n.5935-12T>C)
c.6043-12T>C (n.6043-12T>C)
c.6046-12T>C (n.6046-12T>C)
c.6019-12T>C (n.6019-12T>C)
c.5956-12T>C (n.5956-12T>C)
c.5827-12T>C (n.5827-12T>C)
c.5815-12T>C (n.5815-12T>C)
c.5788-12T>C (n.5788-12T>C)
n.6372-12T>C
n.6346-12T>C
c.6142-12T>C (n.6142-12T>C)
c.6136-12T>C (n.6136-12T>C)
c.6133-12T>C (n.6133-12T>C)
c.6028-12T>C (n.6028-12T>C)
c.6025-12T>C (n.6025-12T>C)
n.6131-12T>C
n.6072-12T>C
n.6117-12T>C
 ClinVar gnomAD v4
11g.77211141G>ACA6198923MYO7Ac.6052-11G>A (n.6052-11G>A)
c.3853-11G>A
c.5905-11G>A (n.5905-11G>A)
c.3478-11G>A (n.3478-11G>A)
c.5938-11G>A (n.5938-11G>A)
n.3588-11G>A
n.25+230G>A
n.1519-11G>A
c.5935-11G>A (n.5935-11G>A)
c.6043-11G>A (n.6043-11G>A)
c.6046-11G>A (n.6046-11G>A)
c.6019-11G>A (n.6019-11G>A)
c.5956-11G>A (n.5956-11G>A)
c.5827-11G>A (n.5827-11G>A)
c.5815-11G>A (n.5815-11G>A)
c.5788-11G>A (n.5788-11G>A)
n.6372-11G>A
n.6346-11G>A
c.6142-11G>A (n.6142-11G>A)
c.6136-11G>A (n.6136-11G>A)
c.6133-11G>A (n.6133-11G>A)
c.6028-11G>A (n.6028-11G>A)
c.6025-11G>A (n.6025-11G>A)
n.6131-11G>A
n.6072-11G>A
n.6117-11G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.77211141G>CCA132417MYO7Ac.6052-11G>C (n.6052-11G>C)
c.3853-11G>C
c.5905-11G>C (n.5905-11G>C)
c.3478-11G>C (n.3478-11G>C)
c.5938-11G>C (n.5938-11G>C)
n.3588-11G>C
n.25+230G>C
n.1519-11G>C
c.5935-11G>C (n.5935-11G>C)
c.6043-11G>C (n.6043-11G>C)
c.6046-11G>C (n.6046-11G>C)
c.6019-11G>C (n.6019-11G>C)
c.5956-11G>C (n.5956-11G>C)
c.5827-11G>C (n.5827-11G>C)
c.5815-11G>C (n.5815-11G>C)
c.5788-11G>C (n.5788-11G>C)
n.6372-11G>C
n.6346-11G>C
c.6142-11G>C (n.6142-11G>C)
c.6136-11G>C (n.6136-11G>C)
c.6133-11G>C (n.6133-11G>C)
c.6028-11G>C (n.6028-11G>C)
c.6025-11G>C (n.6025-11G>C)
n.6131-11G>C
n.6072-11G>C
n.6117-11G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77211141G=CA1984129815MYO7Ac.6052-11G= (n.6052-11G=)
c.3853-11G=
c.5905-11G= (n.5905-11G=)
c.3478-11G= (n.3478-11G=)
c.5938-11G= (n.5938-11G=)
n.3588-11G=
n.25+230G=
n.1519-11G=
c.5935-11G= (n.5935-11G=)
c.6043-11G= (n.6043-11G=)
c.6046-11G= (n.6046-11G=)
c.6019-11G= (n.6019-11G=)
c.5956-11G= (n.5956-11G=)
c.5827-11G= (n.5827-11G=)
c.5815-11G= (n.5815-11G=)
c.5788-11G= (n.5788-11G=)
n.6372-11G=
n.6346-11G=
c.6142-11G= (n.6142-11G=)
c.6136-11G= (n.6136-11G=)
c.6133-11G= (n.6133-11G=)
c.6028-11G= (n.6028-11G=)
c.6025-11G= (n.6025-11G=)
n.6131-11G=
n.6072-11G=
n.6117-11G=
11g.77211141G>TCA2581047395MYO7Ac.6052-11G>T (n.6052-11G>T)
c.3853-11G>T
c.5905-11G>T (n.5905-11G>T)
c.3478-11G>T (n.3478-11G>T)
c.5938-11G>T (n.5938-11G>T)
n.3588-11G>T
n.25+230G>T
n.1519-11G>T
c.5935-11G>T (n.5935-11G>T)
c.6043-11G>T (n.6043-11G>T)
c.6046-11G>T (n.6046-11G>T)
c.6019-11G>T (n.6019-11G>T)
c.5956-11G>T (n.5956-11G>T)
c.5827-11G>T (n.5827-11G>T)
c.5815-11G>T (n.5815-11G>T)
c.5788-11G>T (n.5788-11G>T)
n.6372-11G>T
n.6346-11G>T
c.6142-11G>T (n.6142-11G>T)
c.6136-11G>T (n.6136-11G>T)
c.6133-11G>T (n.6133-11G>T)
c.6028-11G>T (n.6028-11G>T)
c.6025-11G>T (n.6025-11G>T)
n.6131-11G>T
n.6072-11G>T
n.6117-11G>T
 gnomAD v4
11g.77211141_77211143delinsGTCCA1984129814MYO7Ac.6052-11_6052-9delinsGTC (n.6052-11_6052-9delinsGTC)
c.3853-11_3853-9delinsGTC
c.5905-11_5905-9delinsGTC (n.5905-11_5905-9delinsGTC)
c.3478-11_3478-9delinsGTC (n.3478-11_3478-9delinsGTC)
c.5938-11_5938-9delinsGTC (n.5938-11_5938-9delinsGTC)
n.3588-11_3588-9delinsGTC
n.25+230_25+232delinsGTC
n.1519-11_1519-9delinsGTC
c.5935-11_5935-9delinsGTC (n.5935-11_5935-9delinsGTC)
c.6043-11_6043-9delinsGTC (n.6043-11_6043-9delinsGTC)
c.6046-11_6046-9delinsGTC (n.6046-11_6046-9delinsGTC)
c.6019-11_6019-9delinsGTC (n.6019-11_6019-9delinsGTC)
c.5956-11_5956-9delinsGTC (n.5956-11_5956-9delinsGTC)
c.5827-11_5827-9delinsGTC (n.5827-11_5827-9delinsGTC)
c.5815-11_5815-9delinsGTC (n.5815-11_5815-9delinsGTC)
c.5788-11_5788-9delinsGTC (n.5788-11_5788-9delinsGTC)
n.6372-11_6372-9delinsGTC
n.6346-11_6346-9delinsGTC
c.6142-11_6142-9delinsGTC (n.6142-11_6142-9delinsGTC)
c.6136-11_6136-9delinsGTC (n.6136-11_6136-9delinsGTC)
c.6133-11_6133-9delinsGTC (n.6133-11_6133-9delinsGTC)
c.6028-11_6028-9delinsGTC (n.6028-11_6028-9delinsGTC)
c.6025-11_6025-9delinsGTC (n.6025-11_6025-9delinsGTC)
n.6131-11_6131-9delinsGTC
n.6072-11_6072-9delinsGTC
n.6117-11_6117-9delinsGTC
11g.77211145_77211146delCA6198922MYO7Ac.6052-7_6052-6del (n.6052-7_6052-6del)
c.3853-7_3853-6del
c.5905-7_5905-6del (n.5905-7_5905-6del)
c.3478-7_3478-6del (n.3478-7_3478-6del)
c.5938-7_5938-6del (n.5938-7_5938-6del)
n.3588-7_3588-6del
n.25+234_25+235del
n.1519-7_1519-6del
c.5935-7_5935-6del (n.5935-7_5935-6del)
c.6043-7_6043-6del (n.6043-7_6043-6del)
c.6046-7_6046-6del (n.6046-7_6046-6del)
c.6019-7_6019-6del (n.6019-7_6019-6del)
c.5956-7_5956-6del (n.5956-7_5956-6del)
c.5827-7_5827-6del (n.5827-7_5827-6del)
c.5815-7_5815-6del (n.5815-7_5815-6del)
c.5788-7_5788-6del (n.5788-7_5788-6del)
n.6372-7_6372-6del
n.6346-7_6346-6del
c.6142-7_6142-6del (n.6142-7_6142-6del)
c.6136-7_6136-6del (n.6136-7_6136-6del)
c.6133-7_6133-6del (n.6133-7_6133-6del)
c.6028-7_6028-6del (n.6028-7_6028-6del)
c.6025-7_6025-6del (n.6025-7_6025-6del)
n.6131-7_6131-6del
n.6072-7_6072-6del
n.6117-7_6117-6del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77211143C>ACA2615262373MYO7Ac.6052-9C>A (n.6052-9C>A)
c.3853-9C>A
c.5905-9C>A (n.5905-9C>A)
c.3478-9C>A (n.3478-9C>A)
c.5938-9C>A (n.5938-9C>A)
n.3588-9C>A
n.25+232C>A
n.1519-9C>A
c.5935-9C>A (n.5935-9C>A)
c.6043-9C>A (n.6043-9C>A)
c.6046-9C>A (n.6046-9C>A)
c.6019-9C>A (n.6019-9C>A)
c.5956-9C>A (n.5956-9C>A)
c.5827-9C>A (n.5827-9C>A)
c.5815-9C>A (n.5815-9C>A)
c.5788-9C>A (n.5788-9C>A)
n.6372-9C>A
n.6346-9C>A
c.6142-9C>A (n.6142-9C>A)
c.6136-9C>A (n.6136-9C>A)
c.6133-9C>A (n.6133-9C>A)
c.6028-9C>A (n.6028-9C>A)
c.6025-9C>A (n.6025-9C>A)
n.6131-9C>A
n.6072-9C>A
n.6117-9C>A
 gnomAD v4
11g.77211143C=CA1984129816MYO7Ac.6052-9C= (n.6052-9C=)
c.3853-9C=
c.5905-9C= (n.5905-9C=)
c.3478-9C= (n.3478-9C=)
c.5938-9C= (n.5938-9C=)
n.3588-9C=
n.25+232C=
n.1519-9C=
c.5935-9C= (n.5935-9C=)
c.6043-9C= (n.6043-9C=)
c.6046-9C= (n.6046-9C=)
c.6019-9C= (n.6019-9C=)
c.5956-9C= (n.5956-9C=)
c.5827-9C= (n.5827-9C=)
c.5815-9C= (n.5815-9C=)
c.5788-9C= (n.5788-9C=)
n.6372-9C=
n.6346-9C=
c.6142-9C= (n.6142-9C=)
c.6136-9C= (n.6136-9C=)
c.6133-9C= (n.6133-9C=)
c.6028-9C= (n.6028-9C=)
c.6025-9C= (n.6025-9C=)
n.6131-9C=
n.6072-9C=
n.6117-9C=
11g.77211143C>GCA2615262374MYO7Ac.6052-9C>G (n.6052-9C>G)
c.3853-9C>G
c.5905-9C>G (n.5905-9C>G)
c.3478-9C>G (n.3478-9C>G)
c.5938-9C>G (n.5938-9C>G)
n.3588-9C>G
n.25+232C>G
n.1519-9C>G
c.5935-9C>G (n.5935-9C>G)
c.6043-9C>G (n.6043-9C>G)
c.6046-9C>G (n.6046-9C>G)
c.6019-9C>G (n.6019-9C>G)
c.5956-9C>G (n.5956-9C>G)
c.5827-9C>G (n.5827-9C>G)
c.5815-9C>G (n.5815-9C>G)
c.5788-9C>G (n.5788-9C>G)
n.6372-9C>G
n.6346-9C>G
c.6142-9C>G (n.6142-9C>G)
c.6136-9C>G (n.6136-9C>G)
c.6133-9C>G (n.6133-9C>G)
c.6028-9C>G (n.6028-9C>G)
c.6025-9C>G (n.6025-9C>G)
n.6131-9C>G
n.6072-9C>G
n.6117-9C>G
 gnomAD v4
11g.77211143C>TCA6198924MYO7Ac.6052-9C>T (n.6052-9C>T)
c.3853-9C>T
c.5905-9C>T (n.5905-9C>T)
c.3478-9C>T (n.3478-9C>T)
c.5938-9C>T (n.5938-9C>T)
n.3588-9C>T
n.25+232C>T
n.1519-9C>T
c.5935-9C>T (n.5935-9C>T)
c.6043-9C>T (n.6043-9C>T)
c.6046-9C>T (n.6046-9C>T)
c.6019-9C>T (n.6019-9C>T)
c.5956-9C>T (n.5956-9C>T)
c.5827-9C>T (n.5827-9C>T)
c.5815-9C>T (n.5815-9C>T)
c.5788-9C>T (n.5788-9C>T)
n.6372-9C>T
n.6346-9C>T
c.6142-9C>T (n.6142-9C>T)
c.6136-9C>T (n.6136-9C>T)
c.6133-9C>T (n.6133-9C>T)
c.6028-9C>T (n.6028-9C>T)
c.6025-9C>T (n.6025-9C>T)
n.6131-9C>T
n.6072-9C>T
n.6117-9C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.77211145C>ACA2615262381MYO7Ac.6052-7C>A (n.6052-7C>A)
c.3853-7C>A
c.5905-7C>A (n.5905-7C>A)
c.3478-7C>A (n.3478-7C>A)
c.5938-7C>A (n.5938-7C>A)
n.3588-7C>A
n.25+234C>A
n.1519-7C>A
c.5935-7C>A (n.5935-7C>A)
c.6043-7C>A (n.6043-7C>A)
c.6046-7C>A (n.6046-7C>A)
c.6019-7C>A (n.6019-7C>A)
c.5956-7C>A (n.5956-7C>A)
c.5827-7C>A (n.5827-7C>A)
c.5815-7C>A (n.5815-7C>A)
c.5788-7C>A (n.5788-7C>A)
n.6372-7C>A
n.6346-7C>A
c.6142-7C>A (n.6142-7C>A)
c.6136-7C>A (n.6136-7C>A)
c.6133-7C>A (n.6133-7C>A)
c.6028-7C>A (n.6028-7C>A)
c.6025-7C>A (n.6025-7C>A)
n.6131-7C>A
n.6072-7C>A
n.6117-7C>A
 gnomAD v4
11g.77211145C=CA1984129817MYO7Ac.6052-7C= (n.6052-7C=)
c.3853-7C=
c.5905-7C= (n.5905-7C=)
c.3478-7C= (n.3478-7C=)
c.5938-7C= (n.5938-7C=)
n.3588-7C=
n.25+234C=
n.1519-7C=
c.5935-7C= (n.5935-7C=)
c.6043-7C= (n.6043-7C=)
c.6046-7C= (n.6046-7C=)
c.6019-7C= (n.6019-7C=)
c.5956-7C= (n.5956-7C=)
c.5827-7C= (n.5827-7C=)
c.5815-7C= (n.5815-7C=)
c.5788-7C= (n.5788-7C=)
n.6372-7C=
n.6346-7C=
c.6142-7C= (n.6142-7C=)
c.6136-7C= (n.6136-7C=)
c.6133-7C= (n.6133-7C=)
c.6028-7C= (n.6028-7C=)
c.6025-7C= (n.6025-7C=)
n.6131-7C=
n.6072-7C=
n.6117-7C=
11g.77211145C>GCA1984129818MYO7Ac.6052-7C>G (n.6052-7C>G)
c.3853-7C>G
c.5905-7C>G (n.5905-7C>G)
c.3478-7C>G (n.3478-7C>G)
c.5938-7C>G (n.5938-7C>G)
n.3588-7C>G
n.25+234C>G
n.1519-7C>G
c.5935-7C>G (n.5935-7C>G)
c.6043-7C>G (n.6043-7C>G)
c.6046-7C>G (n.6046-7C>G)
c.6019-7C>G (n.6019-7C>G)
c.5956-7C>G (n.5956-7C>G)
c.5827-7C>G (n.5827-7C>G)
c.5815-7C>G (n.5815-7C>G)
c.5788-7C>G (n.5788-7C>G)
n.6372-7C>G
n.6346-7C>G
c.6142-7C>G (n.6142-7C>G)
c.6136-7C>G (n.6136-7C>G)
c.6133-7C>G (n.6133-7C>G)
c.6028-7C>G (n.6028-7C>G)
c.6025-7C>G (n.6025-7C>G)
n.6131-7C>G
n.6072-7C>G
n.6117-7C>G
 dbSNP
11g.77211145C>TCA224827580MYO7Ac.6052-7C>T (n.6052-7C>T)
c.3853-7C>T
c.5905-7C>T (n.5905-7C>T)
c.3478-7C>T (n.3478-7C>T)
c.5938-7C>T (n.5938-7C>T)
n.3588-7C>T
n.25+234C>T
n.1519-7C>T
c.5935-7C>T (n.5935-7C>T)
c.6043-7C>T (n.6043-7C>T)
c.6046-7C>T (n.6046-7C>T)
c.6019-7C>T (n.6019-7C>T)
c.5956-7C>T (n.5956-7C>T)
c.5827-7C>T (n.5827-7C>T)
c.5815-7C>T (n.5815-7C>T)
c.5788-7C>T (n.5788-7C>T)
n.6372-7C>T
n.6346-7C>T
c.6142-7C>T (n.6142-7C>T)
c.6136-7C>T (n.6136-7C>T)
c.6133-7C>T (n.6133-7C>T)
c.6028-7C>T (n.6028-7C>T)
c.6025-7C>T (n.6025-7C>T)
n.6131-7C>T
n.6072-7C>T
n.6117-7C>T
 dbSNP gnomAD v4
11g.77211146T>ACA2615262385MYO7Ac.6052-6T>A (n.6052-6T>A)
c.3853-6T>A
c.5905-6T>A (n.5905-6T>A)
c.3478-6T>A (n.3478-6T>A)
c.5938-6T>A (n.5938-6T>A)
n.3588-6T>A
n.25+235T>A
n.1519-6T>A
c.5935-6T>A (n.5935-6T>A)
c.6043-6T>A (n.6043-6T>A)
c.6046-6T>A (n.6046-6T>A)
c.6019-6T>A (n.6019-6T>A)
c.5956-6T>A (n.5956-6T>A)
c.5827-6T>A (n.5827-6T>A)
c.5815-6T>A (n.5815-6T>A)
c.5788-6T>A (n.5788-6T>A)
n.6372-6T>A
n.6346-6T>A
c.6142-6T>A (n.6142-6T>A)
c.6136-6T>A (n.6136-6T>A)
c.6133-6T>A (n.6133-6T>A)
c.6028-6T>A (n.6028-6T>A)
c.6025-6T>A (n.6025-6T>A)
n.6131-6T>A
n.6072-6T>A
n.6117-6T>A
 gnomAD v4
11g.77211147G>ACA2580084902MYO7Ac.6052-5G>A (n.6052-5G>A)
c.3853-5G>A
c.5905-5G>A (n.5905-5G>A)
c.3478-5G>A (n.3478-5G>A)
c.5938-5G>A (n.5938-5G>A)
n.3588-5G>A
n.25+236G>A
n.1519-5G>A
c.5935-5G>A (n.5935-5G>A)
c.6043-5G>A (n.6043-5G>A)
c.6046-5G>A (n.6046-5G>A)
c.6019-5G>A (n.6019-5G>A)
c.5956-5G>A (n.5956-5G>A)
c.5827-5G>A (n.5827-5G>A)
c.5815-5G>A (n.5815-5G>A)
c.5788-5G>A (n.5788-5G>A)
n.6372-5G>A
n.6346-5G>A
c.6142-5G>A (n.6142-5G>A)
c.6136-5G>A (n.6136-5G>A)
c.6133-5G>A (n.6133-5G>A)
c.6028-5G>A (n.6028-5G>A)
c.6025-5G>A (n.6025-5G>A)
n.6131-5G>A
n.6072-5G>A
n.6117-5G>A
 ClinVar gnomAD v4
11g.77211147G>TCA2615262388MYO7Ac.6052-5G>T (n.6052-5G>T)
c.3853-5G>T
c.5905-5G>T (n.5905-5G>T)
c.3478-5G>T (n.3478-5G>T)
c.5938-5G>T (n.5938-5G>T)
n.3588-5G>T
n.25+236G>T
n.1519-5G>T
c.5935-5G>T (n.5935-5G>T)
c.6043-5G>T (n.6043-5G>T)
c.6046-5G>T (n.6046-5G>T)
c.6019-5G>T (n.6019-5G>T)
c.5956-5G>T (n.5956-5G>T)
c.5827-5G>T (n.5827-5G>T)
c.5815-5G>T (n.5815-5G>T)
c.5788-5G>T (n.5788-5G>T)
n.6372-5G>T
n.6346-5G>T
c.6142-5G>T (n.6142-5G>T)
c.6136-5G>T (n.6136-5G>T)
c.6133-5G>T (n.6133-5G>T)
c.6028-5G>T (n.6028-5G>T)
c.6025-5G>T (n.6025-5G>T)
n.6131-5G>T
n.6072-5G>T
n.6117-5G>T
 gnomAD v4
11g.77211148A=CA1984129819MYO7Ac.6052-4A= (n.6052-4A=)
c.3853-4A=
c.5905-4A= (n.5905-4A=)
c.3478-4A= (n.3478-4A=)
c.5938-4A= (n.5938-4A=)
n.3588-4A=
n.25+237A=
n.1519-4A=
c.5935-4A= (n.5935-4A=)
c.6043-4A= (n.6043-4A=)
c.6046-4A= (n.6046-4A=)
c.6019-4A= (n.6019-4A=)
c.5956-4A= (n.5956-4A=)
c.5827-4A= (n.5827-4A=)
c.5815-4A= (n.5815-4A=)
c.5788-4A= (n.5788-4A=)
n.6372-4A=
n.6346-4A=
c.6142-4A= (n.6142-4A=)
c.6136-4A= (n.6136-4A=)
c.6133-4A= (n.6133-4A=)
c.6028-4A= (n.6028-4A=)
c.6025-4A= (n.6025-4A=)
n.6131-4A=
n.6072-4A=
n.6117-4A=
11g.77211148A>GCA6198925MYO7Ac.6052-4A>G (n.6052-4A>G)
c.3853-4A>G
c.5905-4A>G (n.5905-4A>G)
c.3478-4A>G (n.3478-4A>G)
c.5938-4A>G (n.5938-4A>G)
n.3588-4A>G
n.25+237A>G
n.1519-4A>G
c.5935-4A>G (n.5935-4A>G)
c.6043-4A>G (n.6043-4A>G)
c.6046-4A>G (n.6046-4A>G)
c.6019-4A>G (n.6019-4A>G)
c.5956-4A>G (n.5956-4A>G)
c.5827-4A>G (n.5827-4A>G)
c.5815-4A>G (n.5815-4A>G)
c.5788-4A>G (n.5788-4A>G)
n.6372-4A>G
n.6346-4A>G
c.6142-4A>G (n.6142-4A>G)
c.6136-4A>G (n.6136-4A>G)
c.6133-4A>G (n.6133-4A>G)
c.6028-4A>G (n.6028-4A>G)
c.6025-4A>G (n.6025-4A>G)
n.6131-4A>G
n.6072-4A>G
n.6117-4A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77211149C>ACA2615262397MYO7Ac.6052-3C>A (n.6052-3C>A)
c.3853-3C>A
c.5905-3C>A (n.5905-3C>A)
c.3478-3C>A (n.3478-3C>A)
c.5938-3C>A (n.5938-3C>A)
n.3588-3C>A
n.25+238C>A
n.1519-3C>A
c.5935-3C>A (n.5935-3C>A)
c.6043-3C>A (n.6043-3C>A)
c.6046-3C>A (n.6046-3C>A)
c.6019-3C>A (n.6019-3C>A)
c.5956-3C>A (n.5956-3C>A)
c.5827-3C>A (n.5827-3C>A)
c.5815-3C>A (n.5815-3C>A)
c.5788-3C>A (n.5788-3C>A)
n.6372-3C>A
n.6346-3C>A
c.6142-3C>A (n.6142-3C>A)
c.6136-3C>A (n.6136-3C>A)
c.6133-3C>A (n.6133-3C>A)
c.6028-3C>A (n.6028-3C>A)
c.6025-3C>A (n.6025-3C>A)
n.6131-3C>A
n.6072-3C>A
n.6117-3C>A
 gnomAD v4
11g.77211149C=CA1984129820MYO7Ac.6052-3C= (n.6052-3C=)
c.3853-3C=
c.5905-3C= (n.5905-3C=)
c.3478-3C= (n.3478-3C=)
c.5938-3C= (n.5938-3C=)
n.3588-3C=
n.25+238C=
n.1519-3C=
c.5935-3C= (n.5935-3C=)
c.6043-3C= (n.6043-3C=)
c.6046-3C= (n.6046-3C=)
c.6019-3C= (n.6019-3C=)
c.5956-3C= (n.5956-3C=)
c.5827-3C= (n.5827-3C=)
c.5815-3C= (n.5815-3C=)
c.5788-3C= (n.5788-3C=)
n.6372-3C=
n.6346-3C=
c.6142-3C= (n.6142-3C=)
c.6136-3C= (n.6136-3C=)
c.6133-3C= (n.6133-3C=)
c.6028-3C= (n.6028-3C=)
c.6025-3C= (n.6025-3C=)
n.6131-3C=
n.6072-3C=
n.6117-3C=
11g.77211149C>TCA6198927MYO7Ac.6052-3C>T (n.6052-3C>T)
c.3853-3C>T
c.5905-3C>T (n.5905-3C>T)
c.3478-3C>T (n.3478-3C>T)
c.5938-3C>T (n.5938-3C>T)
n.3588-3C>T
n.25+238C>T
n.1519-3C>T
c.5935-3C>T (n.5935-3C>T)
c.6043-3C>T (n.6043-3C>T)
c.6046-3C>T (n.6046-3C>T)
c.6019-3C>T (n.6019-3C>T)
c.5956-3C>T (n.5956-3C>T)
c.5827-3C>T (n.5827-3C>T)
c.5815-3C>T (n.5815-3C>T)
c.5788-3C>T (n.5788-3C>T)
n.6372-3C>T
n.6346-3C>T
c.6142-3C>T (n.6142-3C>T)
c.6136-3C>T (n.6136-3C>T)
c.6133-3C>T (n.6133-3C>T)
c.6028-3C>T (n.6028-3C>T)
c.6025-3C>T (n.6025-3C>T)
n.6131-3C>T
n.6072-3C>T
n.6117-3C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77211151_77211152insAGCAGCA6198926MYO7Ac.6052-1_6052insAGCAG (n.6052-1_6052insAGCAG)
c.3853-1_3853insAGCAG
c.5905-1_5905insAGCAG (n.5905-1_5905insAGCAG)
c.3478-1_3478insAGCAG (n.3478-1_3478insAGCAG)
c.5938-1_5938insAGCAG (n.5938-1_5938insAGCAG)
n.3588-1_3588insAGCAG
n.25+240_25+241insAGCAG
n.1519-1_1519insAGCAG
c.5935-1_5935insAGCAG (n.5935-1_5935insAGCAG)
c.6043-1_6043insAGCAG (n.6043-1_6043insAGCAG)
c.6046-1_6046insAGCAG (n.6046-1_6046insAGCAG)
c.6019-1_6019insAGCAG (n.6019-1_6019insAGCAG)
c.5956-1_5956insAGCAG (n.5956-1_5956insAGCAG)
c.5827-1_5827insAGCAG (n.5827-1_5827insAGCAG)
c.5815-1_5815insAGCAG (n.5815-1_5815insAGCAG)
c.5788-1_5788insAGCAG (n.5788-1_5788insAGCAG)
n.6372-1_6372insAGCAG
n.6346-1_6346insAGCAG
c.6142-1_6142insAGCAG (n.6142-1_6142insAGCAG)
c.6136-1_6136insAGCAG (n.6136-1_6136insAGCAG)
c.6133-1_6133insAGCAG (n.6133-1_6133insAGCAG)
c.6028-1_6028insAGCAG (n.6028-1_6028insAGCAG)
c.6025-1_6025insAGCAG (n.6025-1_6025insAGCAG)
n.6131-1_6131insAGCAG
n.6072-1_6072insAGCAG
n.6117-1_6117insAGCAG
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.77211150A>CCA381935395MYO7Ac.6052-2A>C (n.6052-2A>C)
c.3853-2A>C
c.5905-2A>C (n.5905-2A>C)
c.3478-2A>C (n.3478-2A>C)
c.5938-2A>C (n.5938-2A>C)
n.3588-2A>C
n.25+239A>C
n.1519-2A>C
c.5935-2A>C (n.5935-2A>C)
c.6043-2A>C (n.6043-2A>C)
c.6046-2A>C (n.6046-2A>C)
c.6019-2A>C (n.6019-2A>C)
c.5956-2A>C (n.5956-2A>C)
c.5827-2A>C (n.5827-2A>C)
c.5815-2A>C (n.5815-2A>C)
c.5788-2A>C (n.5788-2A>C)
n.6372-2A>C
n.6346-2A>C
c.6142-2A>C (n.6142-2A>C)
c.6136-2A>C (n.6136-2A>C)
c.6133-2A>C (n.6133-2A>C)
c.6028-2A>C (n.6028-2A>C)
c.6025-2A>C (n.6025-2A>C)
n.6131-2A>C
n.6072-2A>C
n.6117-2A>C
11g.77211150A>GCA381935397MYO7Ac.6052-2A>G (n.6052-2A>G)
c.3853-2A>G
c.5905-2A>G (n.5905-2A>G)
c.3478-2A>G (n.3478-2A>G)
c.5938-2A>G (n.5938-2A>G)
n.3588-2A>G
n.25+239A>G
n.1519-2A>G
c.5935-2A>G (n.5935-2A>G)
c.6043-2A>G (n.6043-2A>G)
c.6046-2A>G (n.6046-2A>G)
c.6019-2A>G (n.6019-2A>G)
c.5956-2A>G (n.5956-2A>G)
c.5827-2A>G (n.5827-2A>G)
c.5815-2A>G (n.5815-2A>G)
c.5788-2A>G (n.5788-2A>G)
n.6372-2A>G
n.6346-2A>G
c.6142-2A>G (n.6142-2A>G)
c.6136-2A>G (n.6136-2A>G)
c.6133-2A>G (n.6133-2A>G)
c.6028-2A>G (n.6028-2A>G)
c.6025-2A>G (n.6025-2A>G)
n.6131-2A>G
n.6072-2A>G
n.6117-2A>G
 ClinVar gnomAD v4
11g.77211150A>TCA381935399MYO7Ac.6052-2A>T (n.6052-2A>T)
c.3853-2A>T
c.5905-2A>T (n.5905-2A>T)
c.3478-2A>T (n.3478-2A>T)
c.5938-2A>T (n.5938-2A>T)
n.3588-2A>T
n.25+239A>T
n.1519-2A>T
c.5935-2A>T (n.5935-2A>T)
c.6043-2A>T (n.6043-2A>T)
c.6046-2A>T (n.6046-2A>T)
c.6019-2A>T (n.6019-2A>T)
c.5956-2A>T (n.5956-2A>T)
c.5827-2A>T (n.5827-2A>T)
c.5815-2A>T (n.5815-2A>T)
c.5788-2A>T (n.5788-2A>T)
n.6372-2A>T
n.6346-2A>T
c.6142-2A>T (n.6142-2A>T)
c.6136-2A>T (n.6136-2A>T)
c.6133-2A>T (n.6133-2A>T)
c.6028-2A>T (n.6028-2A>T)
c.6025-2A>T (n.6025-2A>T)
n.6131-2A>T
n.6072-2A>T
n.6117-2A>T
11g.77211150_77211151delCA2615262399MYO7Ac.6052-2_6052-1del (n.6052-2_6052-1del)
c.3853-2_3853-1del
c.5905-2_5905-1del (n.5905-2_5905-1del)
c.3478-2_3478-1del (n.3478-2_3478-1del)
c.5938-2_5938-1del (n.5938-2_5938-1del)
n.3588-2_3588-1del
n.25+239_25+240del
n.1519-2_1519-1del
c.5935-2_5935-1del (n.5935-2_5935-1del)
c.6043-2_6043-1del (n.6043-2_6043-1del)
c.6046-2_6046-1del (n.6046-2_6046-1del)
c.6019-2_6019-1del (n.6019-2_6019-1del)
c.5956-2_5956-1del (n.5956-2_5956-1del)
c.5827-2_5827-1del (n.5827-2_5827-1del)
c.5815-2_5815-1del (n.5815-2_5815-1del)
c.5788-2_5788-1del (n.5788-2_5788-1del)
n.6372-2_6372-1del
n.6346-2_6346-1del
c.6142-2_6142-1del (n.6142-2_6142-1del)
c.6136-2_6136-1del (n.6136-2_6136-1del)
c.6133-2_6133-1del (n.6133-2_6133-1del)
c.6028-2_6028-1del (n.6028-2_6028-1del)
c.6025-2_6025-1del (n.6025-2_6025-1del)
n.6131-2_6131-1del
n.6072-2_6072-1del
n.6117-2_6117-1del
 gnomAD v4
11g.77211151G>ACA381935401MYO7Ac.6052-1G>A (n.6052-1G>A)
c.3853-1G>A
c.5905-1G>A (n.5905-1G>A)
c.3478-1G>A (n.3478-1G>A)
c.5938-1G>A (n.5938-1G>A)
n.3588-1G>A
n.25+240G>A
n.1519-1G>A
c.5935-1G>A (n.5935-1G>A)
c.6043-1G>A (n.6043-1G>A)
c.6046-1G>A (n.6046-1G>A)
c.6019-1G>A (n.6019-1G>A)
c.5956-1G>A (n.5956-1G>A)
c.5827-1G>A (n.5827-1G>A)
c.5815-1G>A (n.5815-1G>A)
c.5788-1G>A (n.5788-1G>A)
n.6372-1G>A
n.6346-1G>A
c.6142-1G>A (n.6142-1G>A)
c.6136-1G>A (n.6136-1G>A)
c.6133-1G>A (n.6133-1G>A)
c.6028-1G>A (n.6028-1G>A)
c.6025-1G>A (n.6025-1G>A)
n.6131-1G>A
n.6072-1G>A
n.6117-1G>A
 dbSNP gnomAD v2 COSMIC
11g.77211151G>CCA6198928MYO7Ac.6052-1G>C (n.6052-1G>C)
c.3853-1G>C
c.5905-1G>C (n.5905-1G>C)
c.3478-1G>C (n.3478-1G>C)
c.5938-1G>C (n.5938-1G>C)
n.3588-1G>C
n.25+240G>C
n.1519-1G>C
c.5935-1G>C (n.5935-1G>C)
c.6043-1G>C (n.6043-1G>C)
c.6046-1G>C (n.6046-1G>C)
c.6019-1G>C (n.6019-1G>C)
c.5956-1G>C (n.5956-1G>C)
c.5827-1G>C (n.5827-1G>C)
c.5815-1G>C (n.5815-1G>C)
c.5788-1G>C (n.5788-1G>C)
n.6372-1G>C
n.6346-1G>C
c.6142-1G>C (n.6142-1G>C)
c.6136-1G>C (n.6136-1G>C)
c.6133-1G>C (n.6133-1G>C)
c.6028-1G>C (n.6028-1G>C)
c.6025-1G>C (n.6025-1G>C)
n.6131-1G>C
n.6072-1G>C
n.6117-1G>C
 dbSNP ExAC gnomAD v4
11g.77211151G=CA1984129821MYO7Ac.6052-1G= (n.6052-1G=)
c.3853-1G=
c.5905-1G= (n.5905-1G=)
c.3478-1G= (n.3478-1G=)
c.5938-1G= (n.5938-1G=)
n.3588-1G=
n.25+240G=
n.1519-1G=
c.5935-1G= (n.5935-1G=)
c.6043-1G= (n.6043-1G=)
c.6046-1G= (n.6046-1G=)
c.6019-1G= (n.6019-1G=)
c.5956-1G= (n.5956-1G=)
c.5827-1G= (n.5827-1G=)
c.5815-1G= (n.5815-1G=)
c.5788-1G= (n.5788-1G=)
n.6372-1G=
n.6346-1G=
c.6142-1G= (n.6142-1G=)
c.6136-1G= (n.6136-1G=)
c.6133-1G= (n.6133-1G=)
c.6028-1G= (n.6028-1G=)
c.6025-1G= (n.6025-1G=)
n.6131-1G=
n.6072-1G=
n.6117-1G=
11g.77211151G>TCA381935404MYO7Ac.6052-1G>T (n.6052-1G>T)
c.3853-1G>T
c.5905-1G>T (n.5905-1G>T)
c.3478-1G>T (n.3478-1G>T)
c.5938-1G>T (n.5938-1G>T)
n.3588-1G>T
n.25+240G>T
n.1519-1G>T
c.5935-1G>T (n.5935-1G>T)
c.6043-1G>T (n.6043-1G>T)
c.6046-1G>T (n.6046-1G>T)
c.6019-1G>T (n.6019-1G>T)
c.5956-1G>T (n.5956-1G>T)
c.5827-1G>T (n.5827-1G>T)
c.5815-1G>T (n.5815-1G>T)
c.5788-1G>T (n.5788-1G>T)
n.6372-1G>T
n.6346-1G>T
c.6142-1G>T (n.6142-1G>T)
c.6136-1G>T (n.6136-1G>T)
c.6133-1G>T (n.6133-1G>T)
c.6028-1G>T (n.6028-1G>T)
c.6025-1G>T (n.6025-1G>T)
n.6131-1G>T
n.6072-1G>T
n.6117-1G>T
 dbSNP gnomAD v2 gnomAD v4
11g.77211152G>ACA381935409MYO7Ac.6052G>A (p.Glu2018Lys)
c.3853G>A
c.5905G>A (p.Glu1969Lys)
c.3478G>A (p.Glu1160Lys)
c.5938G>A (p.Glu1980Lys)
n.3588G>A
n.25+241G>A
n.1519G>A
c.5935G>A (p.Glu1979Lys)
c.6043G>A (p.Glu2015Lys)
c.6046G>A (p.Glu2016Lys)
c.6019G>A (p.Glu2007Lys)
c.5956G>A (p.Glu1986Lys)
c.5827G>A (p.Glu1943Lys)
c.5815G>A (p.Glu1939Lys)
c.5788G>A (p.Glu1930Lys)
n.6372G>A
n.6346G>A
c.6142G>A (p.Glu2048Lys)
c.6136G>A (p.Glu2046Lys)
c.6133G>A (p.Glu2045Lys)
c.6028G>A (p.Glu2010Lys)
c.6025G>A (p.Glu2009Lys)
n.6131G>A
n.6072G>A
n.6117G>A
 gnomAD v4
11g.77211152G>CCA381935411MYO7Ac.6052G>C (p.Glu2018Gln)
c.3853G>C
c.5905G>C (p.Glu1969Gln)
c.3478G>C (p.Glu1160Gln)
c.5938G>C (p.Glu1980Gln)
n.3588G>C
n.25+241G>C
n.1519G>C
c.5935G>C (p.Glu1979Gln)
c.6043G>C (p.Glu2015Gln)
c.6046G>C (p.Glu2016Gln)
c.6019G>C (p.Glu2007Gln)
c.5956G>C (p.Glu1986Gln)
c.5827G>C (p.Glu1943Gln)
c.5815G>C (p.Glu1939Gln)
c.5788G>C (p.Glu1930Gln)
n.6372G>C
n.6346G>C
c.6142G>C (p.Glu2048Gln)
c.6136G>C (p.Glu2046Gln)
c.6133G>C (p.Glu2045Gln)
c.6028G>C (p.Glu2010Gln)
c.6025G>C (p.Glu2009Gln)
n.6131G>C
n.6072G>C
n.6117G>C
11g.77211152G>TCA381935413MYO7Ac.6052G>T (p.Glu2018Ter)
c.3853G>T
c.5905G>T (p.Glu1969Ter)
c.3478G>T (p.Glu1160Ter)
c.5938G>T (p.Glu1980Ter)
n.3588G>T
n.25+241G>T
n.1519G>T
c.5935G>T (p.Glu1979Ter)
c.6043G>T (p.Glu2015Ter)
c.6046G>T (p.Glu2016Ter)
c.6019G>T (p.Glu2007Ter)
c.5956G>T (p.Glu1986Ter)
c.5827G>T (p.Glu1943Ter)
c.5815G>T (p.Glu1939Ter)
c.5788G>T (p.Glu1930Ter)
n.6372G>T
n.6346G>T
c.6142G>T (p.Glu2048Ter)
c.6136G>T (p.Glu2046Ter)
c.6133G>T (p.Glu2045Ter)
c.6028G>T (p.Glu2010Ter)
c.6025G>T (p.Glu2009Ter)
n.6131G>T
n.6072G>T
n.6117G>T
 gnomAD v4
11g.77211153A>CCA381935416MYO7Ac.6053A>C (p.Glu2018Ala)
c.3854A>C
c.5906A>C (p.Glu1969Ala)
c.3479A>C (p.Glu1160Ala)
c.5939A>C (p.Glu1980Ala)
n.3589A>C
n.25+242A>C
n.1520A>C
c.5936A>C (p.Glu1979Ala)
c.6044A>C (p.Glu2015Ala)
c.6047A>C (p.Glu2016Ala)
c.6020A>C (p.Glu2007Ala)
c.5957A>C (p.Glu1986Ala)
c.5828A>C (p.Glu1943Ala)
c.5816A>C (p.Glu1939Ala)
c.5789A>C (p.Glu1930Ala)
n.6373A>C
n.6347A>C
c.6143A>C (p.Glu2048Ala)
c.6137A>C (p.Glu2046Ala)
c.6134A>C (p.Glu2045Ala)
c.6029A>C (p.Glu2010Ala)
c.6026A>C (p.Glu2009Ala)
n.6132A>C
n.6073A>C
n.6118A>C
11g.77211153A>GCA381935418MYO7Ac.6053A>G (p.Glu2018Gly)
c.3854A>G
c.5906A>G (p.Glu1969Gly)
c.3479A>G (p.Glu1160Gly)
c.5939A>G (p.Glu1980Gly)
n.3589A>G
n.25+242A>G
n.1520A>G
c.5936A>G (p.Glu1979Gly)
c.6044A>G (p.Glu2015Gly)
c.6047A>G (p.Glu2016Gly)
c.6020A>G (p.Glu2007Gly)
c.5957A>G (p.Glu1986Gly)
c.5828A>G (p.Glu1943Gly)
c.5816A>G (p.Glu1939Gly)
c.5789A>G (p.Glu1930Gly)
n.6373A>G
n.6347A>G
c.6143A>G (p.Glu2048Gly)
c.6137A>G (p.Glu2046Gly)
c.6134A>G (p.Glu2045Gly)
c.6029A>G (p.Glu2010Gly)
c.6026A>G (p.Glu2009Gly)
n.6132A>G
n.6073A>G
n.6118A>G
11g.77211153A>TCA381935419MYO7Ac.6053A>T (p.Glu2018Val)
c.3854A>T
c.5906A>T (p.Glu1969Val)
c.3479A>T (p.Glu1160Val)
c.5939A>T (p.Glu1980Val)
n.3589A>T
n.25+242A>T
n.1520A>T
c.5936A>T (p.Glu1979Val)
c.6044A>T (p.Glu2015Val)
c.6047A>T (p.Glu2016Val)
c.6020A>T (p.Glu2007Val)
c.5957A>T (p.Glu1986Val)
c.5828A>T (p.Glu1943Val)
c.5816A>T (p.Glu1939Val)
c.5789A>T (p.Glu1930Val)
n.6373A>T
n.6347A>T
c.6143A>T (p.Glu2048Val)
c.6137A>T (p.Glu2046Val)
c.6134A>T (p.Glu2045Val)
c.6029A>T (p.Glu2010Val)
c.6026A>T (p.Glu2009Val)
n.6132A>T
n.6073A>T
n.6118A>T
 gnomAD v4
11g.77211154G>ACA475791866MYO7Ac.6054G>A (p.Glu2018=)
c.3855G>A
c.5907G>A (p.Glu1969=)
c.3480G>A (p.Glu1160=)
c.5940G>A (p.Glu1980=)
n.3590G>A
n.25+243G>A
n.1521G>A
c.5937G>A (p.Glu1979=)
c.6045G>A (p.Glu2015=)
c.6048G>A (p.Glu2016=)
c.6021G>A (p.Glu2007=)
c.5958G>A (p.Glu1986=)
c.5829G>A (p.Glu1943=)
c.5817G>A (p.Glu1939=)
c.5790G>A (p.Glu1930=)
n.6374G>A
n.6348G>A
c.6144G>A (p.Glu2048=)
c.6138G>A (p.Glu2046=)
c.6135G>A (p.Glu2045=)
c.6030G>A (p.Glu2010=)
c.6027G>A (p.Glu2009=)
n.6133G>A
n.6074G>A
n.6119G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.77211154G>CCA381935423MYO7Ac.6054G>C (p.Glu2018Asp)
c.3855G>C
c.5907G>C (p.Glu1969Asp)
c.3480G>C (p.Glu1160Asp)
c.5940G>C (p.Glu1980Asp)
n.3590G>C
n.25+243G>C
n.1521G>C
c.5937G>C (p.Glu1979Asp)
c.6045G>C (p.Glu2015Asp)
c.6048G>C (p.Glu2016Asp)
c.6021G>C (p.Glu2007Asp)
c.5958G>C (p.Glu1986Asp)
c.5829G>C (p.Glu1943Asp)
c.5817G>C (p.Glu1939Asp)
c.5790G>C (p.Glu1930Asp)
n.6374G>C
n.6348G>C
c.6144G>C (p.Glu2048Asp)
c.6138G>C (p.Glu2046Asp)
c.6135G>C (p.Glu2045Asp)
c.6030G>C (p.Glu2010Asp)
c.6027G>C (p.Glu2009Asp)
n.6133G>C
n.6074G>C
n.6119G>C
11g.77211154G=CA1984129822MYO7Ac.6054G= (p.Glu2018=)
c.3855G=
c.5907G= (p.Glu1969=)
c.3480G= (p.Glu1160=)
c.5940G= (p.Glu1980=)
n.3590G=
n.25+243G=
n.1521G=
c.5937G= (p.Glu1979=)
c.6045G= (p.Glu2015=)
c.6048G= (p.Glu2016=)
c.6021G= (p.Glu2007=)
c.5958G= (p.Glu1986=)
c.5829G= (p.Glu1943=)
c.5817G= (p.Glu1939=)
c.5790G= (p.Glu1930=)
n.6374G=
n.6348G=
c.6144G= (p.Glu2048=)
c.6138G= (p.Glu2046=)
c.6135G= (p.Glu2045=)
c.6030G= (p.Glu2010=)
c.6027G= (p.Glu2009=)
n.6133G=
n.6074G=
n.6119G=
11g.77211154G>TCA381935425MYO7Ac.6054G>T (p.Glu2018Asp)
c.3855G>T
c.5907G>T (p.Glu1969Asp)
c.3480G>T (p.Glu1160Asp)
c.5940G>T (p.Glu1980Asp)
n.3590G>T
n.25+243G>T
n.1521G>T
c.5937G>T (p.Glu1979Asp)
c.6045G>T (p.Glu2015Asp)
c.6048G>T (p.Glu2016Asp)
c.6021G>T (p.Glu2007Asp)
c.5958G>T (p.Glu1986Asp)
c.5829G>T (p.Glu1943Asp)
c.5817G>T (p.Glu1939Asp)
c.5790G>T (p.Glu1930Asp)
n.6374G>T
n.6348G>T
c.6144G>T (p.Glu2048Asp)
c.6138G>T (p.Glu2046Asp)
c.6135G>T (p.Glu2045Asp)
c.6030G>T (p.Glu2010Asp)
c.6027G>T (p.Glu2009Asp)
n.6133G>T
n.6074G>T
n.6119G>T
11g.77211155T>ACA381935427MYO7Ac.6055T>A (p.Leu2019Met)
c.3856T>A
c.5908T>A (p.Leu1970Met)
c.3481T>A (p.Leu1161Met)
c.5941T>A (p.Leu1981Met)
n.3591T>A
n.25+244T>A
n.1522T>A
c.5938T>A (p.Leu1980Met)
c.6046T>A (p.Leu2016Met)
c.6049T>A (p.Leu2017Met)
c.6022T>A (p.Leu2008Met)
c.5959T>A (p.Leu1987Met)
c.5830T>A (p.Leu1944Met)
c.5818T>A (p.Leu1940Met)
c.5791T>A (p.Leu1931Met)
n.6375T>A
n.6349T>A
c.6145T>A (p.Leu2049Met)
c.6139T>A (p.Leu2047Met)
c.6136T>A (p.Leu2046Met)
c.6031T>A (p.Leu2011Met)
c.6028T>A (p.Leu2010Met)
n.6134T>A
n.6075T>A
n.6120T>A
11g.77211155T>CCA475791867MYO7Ac.6055T>C (p.Leu2019=)
c.3856T>C
c.5908T>C (p.Leu1970=)
c.3481T>C (p.Leu1161=)
c.5941T>C (p.Leu1981=)
n.3591T>C
n.25+244T>C
n.1522T>C
c.5938T>C (p.Leu1980=)
c.6046T>C (p.Leu2016=)
c.6049T>C (p.Leu2017=)
c.6022T>C (p.Leu2008=)
c.5959T>C (p.Leu1987=)
c.5830T>C (p.Leu1944=)
c.5818T>C (p.Leu1940=)
c.5791T>C (p.Leu1931=)
n.6375T>C
n.6349T>C
c.6145T>C (p.Leu2049=)
c.6139T>C (p.Leu2047=)
c.6136T>C (p.Leu2046=)
c.6031T>C (p.Leu2011=)
c.6028T>C (p.Leu2010=)
n.6134T>C
n.6075T>C
n.6120T>C
 gnomAD v4
11g.77211155T>GCA381935429MYO7Ac.6055T>G (p.Leu2019Val)
c.3856T>G
c.5908T>G (p.Leu1970Val)
c.3481T>G (p.Leu1161Val)
c.5941T>G (p.Leu1981Val)
n.3591T>G
n.25+244T>G
n.1522T>G
c.5938T>G (p.Leu1980Val)
c.6046T>G (p.Leu2016Val)
c.6049T>G (p.Leu2017Val)
c.6022T>G (p.Leu2008Val)
c.5959T>G (p.Leu1987Val)
c.5830T>G (p.Leu1944Val)
c.5818T>G (p.Leu1940Val)
c.5791T>G (p.Leu1931Val)
n.6375T>G
n.6349T>G
c.6145T>G (p.Leu2049Val)
c.6139T>G (p.Leu2047Val)
c.6136T>G (p.Leu2046Val)
c.6031T>G (p.Leu2011Val)
c.6028T>G (p.Leu2010Val)
n.6134T>G
n.6075T>G
n.6120T>G
11g.77211156T>ACA381935438MYO7Ac.6056T>A (p.Leu2019Ter)
c.3857T>A
c.5909T>A (p.Leu1970Ter)
c.3482T>A (p.Leu1161Ter)
c.5942T>A (p.Leu1981Ter)
n.3592T>A
n.25+245T>A
n.1523T>A
c.5939T>A (p.Leu1980Ter)
c.6047T>A (p.Leu2016Ter)
c.6050T>A (p.Leu2017Ter)
c.6023T>A (p.Leu2008Ter)
c.5960T>A (p.Leu1987Ter)
c.5831T>A (p.Leu1944Ter)
c.5819T>A (p.Leu1940Ter)
c.5792T>A (p.Leu1931Ter)
n.6376T>A
n.6350T>A
c.6146T>A (p.Leu2049Ter)
c.6140T>A (p.Leu2047Ter)
c.6137T>A (p.Leu2046Ter)
c.6032T>A (p.Leu2011Ter)
c.6029T>A (p.Leu2010Ter)
n.6135T>A
n.6076T>A
n.6121T>A
11g.77211156T>CCA381935435MYO7Ac.6056T>C (p.Leu2019Ser)
c.3857T>C
c.5909T>C (p.Leu1970Ser)
c.3482T>C (p.Leu1161Ser)
c.5942T>C (p.Leu1981Ser)
n.3592T>C
n.25+245T>C
n.1523T>C
c.5939T>C (p.Leu1980Ser)
c.6047T>C (p.Leu2016Ser)
c.6050T>C (p.Leu2017Ser)
c.6023T>C (p.Leu2008Ser)
c.5960T>C (p.Leu1987Ser)
c.5831T>C (p.Leu1944Ser)
c.5819T>C (p.Leu1940Ser)
c.5792T>C (p.Leu1931Ser)
n.6376T>C
n.6350T>C
c.6146T>C (p.Leu2049Ser)
c.6140T>C (p.Leu2047Ser)
c.6137T>C (p.Leu2046Ser)
c.6032T>C (p.Leu2011Ser)
c.6029T>C (p.Leu2010Ser)
n.6135T>C
n.6076T>C
n.6121T>C
 gnomAD v4
11g.77211156T>GCA381935433MYO7Ac.6056T>G (p.Leu2019Trp)
c.3857T>G
c.5909T>G (p.Leu1970Trp)
c.3482T>G (p.Leu1161Trp)
c.5942T>G (p.Leu1981Trp)
n.3592T>G
n.25+245T>G
n.1523T>G
c.5939T>G (p.Leu1980Trp)
c.6047T>G (p.Leu2016Trp)
c.6050T>G (p.Leu2017Trp)
c.6023T>G (p.Leu2008Trp)
c.5960T>G (p.Leu1987Trp)
c.5831T>G (p.Leu1944Trp)
c.5819T>G (p.Leu1940Trp)
c.5792T>G (p.Leu1931Trp)
n.6376T>G
n.6350T>G
c.6146T>G (p.Leu2049Trp)
c.6140T>G (p.Leu2047Trp)
c.6137T>G (p.Leu2046Trp)
c.6032T>G (p.Leu2011Trp)
c.6029T>G (p.Leu2010Trp)
n.6135T>G
n.6076T>G
n.6121T>G
11g.77211157G>ACA6198929MYO7Ac.6057G>A (p.Leu2019=)
c.3858G>A
c.5910G>A (p.Leu1970=)
c.3483G>A (p.Leu1161=)
c.5943G>A (p.Leu1981=)
n.3593G>A
n.25+246G>A
n.1524G>A
c.5940G>A (p.Leu1980=)
c.6048G>A (p.Leu2016=)
c.6051G>A (p.Leu2017=)
c.6024G>A (p.Leu2008=)
c.5961G>A (p.Leu1987=)
c.5832G>A (p.Leu1944=)
c.5820G>A (p.Leu1940=)
c.5793G>A (p.Leu1931=)
n.6377G>A
n.6351G>A
c.6147G>A (p.Leu2049=)
c.6141G>A (p.Leu2047=)
c.6138G>A (p.Leu2046=)
c.6033G>A (p.Leu2011=)
c.6030G>A (p.Leu2010=)
n.6136G>A
n.6077G>A
n.6122G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.77211157G>CCA381935440MYO7Ac.6057G>C (p.Leu2019Phe)
c.3858G>C
c.5910G>C (p.Leu1970Phe)
c.3483G>C (p.Leu1161Phe)
c.5943G>C (p.Leu1981Phe)
n.3593G>C
n.25+246G>C
n.1524G>C
c.5940G>C (p.Leu1980Phe)
c.6048G>C (p.Leu2016Phe)
c.6051G>C (p.Leu2017Phe)
c.6024G>C (p.Leu2008Phe)
c.5961G>C (p.Leu1987Phe)
c.5832G>C (p.Leu1944Phe)
c.5820G>C (p.Leu1940Phe)
c.5793G>C (p.Leu1931Phe)
n.6377G>C
n.6351G>C
c.6147G>C (p.Leu2049Phe)
c.6141G>C (p.Leu2047Phe)
c.6138G>C (p.Leu2046Phe)
c.6033G>C (p.Leu2011Phe)
c.6030G>C (p.Leu2010Phe)
n.6136G>C
n.6077G>C
n.6122G>C
11g.77211157G=CA1984129823MYO7Ac.6057G= (p.Leu2019=)
c.3858G=
c.5910G= (p.Leu1970=)
c.3483G= (p.Leu1161=)
c.5943G= (p.Leu1981=)
n.3593G=
n.25+246G=
n.1524G=
c.5940G= (p.Leu1980=)
c.6048G= (p.Leu2016=)
c.6051G= (p.Leu2017=)
c.6024G= (p.Leu2008=)
c.5961G= (p.Leu1987=)
c.5832G= (p.Leu1944=)
c.5820G= (p.Leu1940=)
c.5793G= (p.Leu1931=)
n.6377G=
n.6351G=
c.6147G= (p.Leu2049=)
c.6141G= (p.Leu2047=)
c.6138G= (p.Leu2046=)
c.6033G= (p.Leu2011=)
c.6030G= (p.Leu2010=)
n.6136G=
n.6077G=
n.6122G=
11g.77211157G>TCA381935442MYO7Ac.6057G>T (p.Leu2019Phe)
c.3858G>T
c.5910G>T (p.Leu1970Phe)
c.3483G>T (p.Leu1161Phe)
c.5943G>T (p.Leu1981Phe)
n.3593G>T
n.25+246G>T
n.1524G>T
c.5940G>T (p.Leu1980Phe)
c.6048G>T (p.Leu2016Phe)
c.6051G>T (p.Leu2017Phe)
c.6024G>T (p.Leu2008Phe)
c.5961G>T (p.Leu1987Phe)
c.5832G>T (p.Leu1944Phe)
c.5820G>T (p.Leu1940Phe)
c.5793G>T (p.Leu1931Phe)
n.6377G>T
n.6351G>T
c.6147G>T (p.Leu2049Phe)
c.6141G>T (p.Leu2047Phe)
c.6138G>T (p.Leu2046Phe)
c.6033G>T (p.Leu2011Phe)
c.6030G>T (p.Leu2010Phe)
n.6136G>T
n.6077G>T
n.6122G>T
 gnomAD v4
11g.77211158C>ACA381935444MYO7Ac.6058C>A (p.Pro2020Thr)
c.3859C>A
c.5911C>A (p.Pro1971Thr)
c.3484C>A (p.Pro1162Thr)
c.5944C>A (p.Pro1982Thr)
n.3594C>A
n.25+247C>A
n.1525C>A
c.5941C>A (p.Pro1981Thr)
c.6049C>A (p.Pro2017Thr)
c.6052C>A (p.Pro2018Thr)
c.6025C>A (p.Pro2009Thr)
c.5962C>A (p.Pro1988Thr)
c.5833C>A (p.Pro1945Thr)
c.5821C>A (p.Pro1941Thr)
c.5794C>A (p.Pro1932Thr)
n.6378C>A
n.6352C>A
c.6148C>A (p.Pro2050Thr)
c.6142C>A (p.Pro2048Thr)
c.6139C>A (p.Pro2047Thr)
c.6034C>A (p.Pro2012Thr)
c.6031C>A (p.Pro2011Thr)
n.6137C>A
n.6078C>A
n.6123C>A
 gnomAD v4
11g.77211158C=CA1984129824MYO7Ac.6058C= (p.Pro2020=)
c.3859C=
c.5911C= (p.Pro1971=)
c.3484C= (p.Pro1162=)
c.5944C= (p.Pro1982=)
n.3594C=
n.25+247C=
n.1525C=
c.5941C= (p.Pro1981=)
c.6049C= (p.Pro2017=)
c.6052C= (p.Pro2018=)
c.6025C= (p.Pro2009=)
c.5962C= (p.Pro1988=)
c.5833C= (p.Pro1945=)
c.5821C= (p.Pro1941=)
c.5794C= (p.Pro1932=)
n.6378C=
n.6352C=
c.6148C= (p.Pro2050=)
c.6142C= (p.Pro2048=)
c.6139C= (p.Pro2047=)
c.6034C= (p.Pro2012=)
c.6031C= (p.Pro2011=)
n.6137C=
n.6078C=
n.6123C=
11g.77211158C>GCA381935446MYO7Ac.6058C>G (p.Pro2020Ala)
c.3859C>G
c.5911C>G (p.Pro1971Ala)
c.3484C>G (p.Pro1162Ala)
c.5944C>G (p.Pro1982Ala)
n.3594C>G
n.25+247C>G
n.1525C>G
c.5941C>G (p.Pro1981Ala)
c.6049C>G (p.Pro2017Ala)
c.6052C>G (p.Pro2018Ala)
c.6025C>G (p.Pro2009Ala)
c.5962C>G (p.Pro1988Ala)
c.5833C>G (p.Pro1945Ala)
c.5821C>G (p.Pro1941Ala)
c.5794C>G (p.Pro1932Ala)
n.6378C>G
n.6352C>G
c.6148C>G (p.Pro2050Ala)
c.6142C>G (p.Pro2048Ala)
c.6139C>G (p.Pro2047Ala)
c.6034C>G (p.Pro2012Ala)
c.6031C>G (p.Pro2011Ala)
n.6137C>G
n.6078C>G
n.6123C>G
11g.77211158C>TCA381935449MYO7Ac.6058C>T (p.Pro2020Ser)
c.3859C>T
c.5911C>T (p.Pro1971Ser)
c.3484C>T (p.Pro1162Ser)
c.5944C>T (p.Pro1982Ser)
n.3594C>T
n.25+247C>T
n.1525C>T
c.5941C>T (p.Pro1981Ser)
c.6049C>T (p.Pro2017Ser)
c.6052C>T (p.Pro2018Ser)
c.6025C>T (p.Pro2009Ser)
c.5962C>T (p.Pro1988Ser)
c.5833C>T (p.Pro1945Ser)
c.5821C>T (p.Pro1941Ser)
c.5794C>T (p.Pro1932Ser)
n.6378C>T
n.6352C>T
c.6148C>T (p.Pro2050Ser)
c.6142C>T (p.Pro2048Ser)
c.6139C>T (p.Pro2047Ser)
c.6034C>T (p.Pro2012Ser)
c.6031C>T (p.Pro2011Ser)
n.6137C>T
n.6078C>T
n.6123C>T
 dbSNP gnomAD v4
11g.77211159C>ACA381935457MYO7Ac.6059C>A (p.Pro2020His)
c.3860C>A
c.5912C>A (p.Pro1971His)
c.3485C>A (p.Pro1162His)
c.5945C>A (p.Pro1982His)
n.3595C>A
n.25+248C>A
n.1526C>A
c.5942C>A (p.Pro1981His)
c.6050C>A (p.Pro2017His)
c.6053C>A (p.Pro2018His)
c.6026C>A (p.Pro2009His)
c.5963C>A (p.Pro1988His)
c.5834C>A (p.Pro1945His)
c.5822C>A (p.Pro1941His)
c.5795C>A (p.Pro1932His)
n.6379C>A
n.6353C>A
c.6149C>A (p.Pro2050His)
c.6143C>A (p.Pro2048His)
c.6140C>A (p.Pro2047His)
c.6035C>A (p.Pro2012His)
c.6032C>A (p.Pro2011His)
n.6138C>A
n.6079C>A
n.6124C>A
 gnomAD v4
11g.77211159C=CA1984129825MYO7Ac.6059C= (p.Pro2020=)
c.3860C=
c.5912C= (p.Pro1971=)
c.3485C= (p.Pro1162=)
c.5945C= (p.Pro1982=)
n.3595C=
n.25+248C=
n.1526C=
c.5942C= (p.Pro1981=)
c.6050C= (p.Pro2017=)
c.6053C= (p.Pro2018=)
c.6026C= (p.Pro2009=)
c.5963C= (p.Pro1988=)
c.5834C= (p.Pro1945=)
c.5822C= (p.Pro1941=)
c.5795C= (p.Pro1932=)
n.6379C=
n.6353C=
c.6149C= (p.Pro2050=)
c.6143C= (p.Pro2048=)
c.6140C= (p.Pro2047=)
c.6035C= (p.Pro2012=)
c.6032C= (p.Pro2011=)
n.6138C=
n.6079C=
n.6124C=
11g.77211159C>GCA381935455MYO7Ac.6059C>G (p.Pro2020Arg)
c.3860C>G
c.5912C>G (p.Pro1971Arg)
c.3485C>G (p.Pro1162Arg)
c.5945C>G (p.Pro1982Arg)
n.3595C>G
n.25+248C>G
n.1526C>G
c.5942C>G (p.Pro1981Arg)
c.6050C>G (p.Pro2017Arg)
c.6053C>G (p.Pro2018Arg)
c.6026C>G (p.Pro2009Arg)
c.5963C>G (p.Pro1988Arg)
c.5834C>G (p.Pro1945Arg)
c.5822C>G (p.Pro1941Arg)
c.5795C>G (p.Pro1932Arg)
n.6379C>G
n.6353C>G
c.6149C>G (p.Pro2050Arg)
c.6143C>G (p.Pro2048Arg)
c.6140C>G (p.Pro2047Arg)
c.6035C>G (p.Pro2012Arg)
c.6032C>G (p.Pro2011Arg)
n.6138C>G
n.6079C>G
n.6124C>G
11g.77211159C>TCA381935453MYO7Ac.6059C>T (p.Pro2020Leu)
c.3860C>T
c.5912C>T (p.Pro1971Leu)
c.3485C>T (p.Pro1162Leu)
c.5945C>T (p.Pro1982Leu)
n.3595C>T
n.25+248C>T
n.1526C>T
c.5942C>T (p.Pro1981Leu)
c.6050C>T (p.Pro2017Leu)
c.6053C>T (p.Pro2018Leu)
c.6026C>T (p.Pro2009Leu)
c.5963C>T (p.Pro1988Leu)
c.5834C>T (p.Pro1945Leu)
c.5822C>T (p.Pro1941Leu)
c.5795C>T (p.Pro1932Leu)
n.6379C>T
n.6353C>T
c.6149C>T (p.Pro2050Leu)
c.6143C>T (p.Pro2048Leu)
c.6140C>T (p.Pro2047Leu)
c.6035C>T (p.Pro2012Leu)
c.6032C>T (p.Pro2011Leu)
n.6138C>T
n.6079C>T
n.6124C>T
 dbSNP gnomAD v2 gnomAD v4
11g.77211160C>ACA475791869MYO7Ac.6060C>A (p.Pro2020=)
c.3861C>A
c.5913C>A (p.Pro1971=)
c.3486C>A (p.Pro1162=)
c.5946C>A (p.Pro1982=)
n.3596C>A
n.25+249C>A
n.1527C>A
c.5943C>A (p.Pro1981=)
c.6051C>A (p.Pro2017=)
c.6054C>A (p.Pro2018=)
c.6027C>A (p.Pro2009=)
c.5964C>A (p.Pro1988=)
c.5835C>A (p.Pro1945=)
c.5823C>A (p.Pro1941=)
c.5796C>A (p.Pro1932=)
n.6380C>A
n.6354C>A
c.6150C>A (p.Pro2050=)
c.6144C>A (p.Pro2048=)
c.6141C>A (p.Pro2047=)
c.6036C>A (p.Pro2012=)
c.6033C>A (p.Pro2011=)
n.6139C>A
n.6080C>A
n.6125C>A
 gnomAD v4
11g.77211160C=CA1984129826MYO7Ac.6060C= (p.Pro2020=)
c.3861C=
c.5913C= (p.Pro1971=)
c.3486C= (p.Pro1162=)
c.5946C= (p.Pro1982=)
n.3596C=
n.25+249C=
n.1527C=
c.5943C= (p.Pro1981=)
c.6051C= (p.Pro2017=)
c.6054C= (p.Pro2018=)
c.6027C= (p.Pro2009=)
c.5964C= (p.Pro1988=)
c.5835C= (p.Pro1945=)
c.5823C= (p.Pro1941=)
c.5796C= (p.Pro1932=)
n.6380C=
n.6354C=
c.6150C= (p.Pro2050=)
c.6144C= (p.Pro2048=)
c.6141C= (p.Pro2047=)
c.6036C= (p.Pro2012=)
c.6033C= (p.Pro2011=)
n.6139C=
n.6080C=
n.6125C=
11g.77211160C>GCA475791871MYO7Ac.6060C>G (p.Pro2020=)
c.3861C>G
c.5913C>G (p.Pro1971=)
c.3486C>G (p.Pro1162=)
c.5946C>G (p.Pro1982=)
n.3596C>G
n.25+249C>G
n.1527C>G
c.5943C>G (p.Pro1981=)
c.6051C>G (p.Pro2017=)
c.6054C>G (p.Pro2018=)
c.6027C>G (p.Pro2009=)
c.5964C>G (p.Pro1988=)
c.5835C>G (p.Pro1945=)
c.5823C>G (p.Pro1941=)
c.5796C>G (p.Pro1932=)
n.6380C>G
n.6354C>G
c.6150C>G (p.Pro2050=)
c.6144C>G (p.Pro2048=)
c.6141C>G (p.Pro2047=)
c.6036C>G (p.Pro2012=)
c.6033C>G (p.Pro2011=)
n.6139C>G
n.6080C>G
n.6125C>G
11g.77211160C>TCA475791872MYO7Ac.6060C>T (p.Pro2020=)
c.3861C>T
c.5913C>T (p.Pro1971=)
c.3486C>T (p.Pro1162=)
c.5946C>T (p.Pro1982=)
n.3596C>T
n.25+249C>T
n.1527C>T
c.5943C>T (p.Pro1981=)
c.6051C>T (p.Pro2017=)
c.6054C>T (p.Pro2018=)
c.6027C>T (p.Pro2009=)
c.5964C>T (p.Pro1988=)
c.5835C>T (p.Pro1945=)
c.5823C>T (p.Pro1941=)
c.5796C>T (p.Pro1932=)
n.6380C>T
n.6354C>T
c.6150C>T (p.Pro2050=)
c.6144C>T (p.Pro2048=)
c.6141C>T (p.Pro2047=)
c.6036C>T (p.Pro2012=)
c.6033C>T (p.Pro2011=)
n.6139C>T
n.6080C>T
n.6125C>T
 dbSNP gnomAD v2 gnomAD v4
11g.77211161A>CCA381935461MYO7Ac.6061A>C (p.Lys2021Gln)
c.3862A>C
c.5914A>C (p.Lys1972Gln)
c.3487A>C (p.Lys1163Gln)
c.5947A>C (p.Lys1983Gln)
n.3597A>C
n.25+250A>C
n.1528A>C
c.5944A>C (p.Lys1982Gln)
c.6052A>C (p.Lys2018Gln)
c.6055A>C (p.Lys2019Gln)
c.6028A>C (p.Lys2010Gln)
c.5965A>C (p.Lys1989Gln)
c.5836A>C (p.Lys1946Gln)
c.5824A>C (p.Lys1942Gln)
c.5797A>C (p.Lys1933Gln)
n.6381A>C
n.6355A>C
c.6151A>C (p.Lys2051Gln)
c.6145A>C (p.Lys2049Gln)
c.6142A>C (p.Lys2048Gln)
c.6037A>C (p.Lys2013Gln)
c.6034A>C (p.Lys2012Gln)
n.6140A>C
n.6081A>C
n.6126A>C
11g.77211161A>GCA381935462MYO7Ac.6061A>G (p.Lys2021Glu)
c.3862A>G
c.5914A>G (p.Lys1972Glu)
c.3487A>G (p.Lys1163Glu)
c.5947A>G (p.Lys1983Glu)
n.3597A>G
n.25+250A>G
n.1528A>G
c.5944A>G (p.Lys1982Glu)
c.6052A>G (p.Lys2018Glu)
c.6055A>G (p.Lys2019Glu)
c.6028A>G (p.Lys2010Glu)
c.5965A>G (p.Lys1989Glu)
c.5836A>G (p.Lys1946Glu)
c.5824A>G (p.Lys1942Glu)
c.5797A>G (p.Lys1933Glu)
n.6381A>G
n.6355A>G
c.6151A>G (p.Lys2051Glu)
c.6145A>G (p.Lys2049Glu)
c.6142A>G (p.Lys2048Glu)
c.6037A>G (p.Lys2013Glu)
c.6034A>G (p.Lys2012Glu)
n.6140A>G
n.6081A>G
n.6126A>G
 gnomAD v4
11g.77211161A>TCA381935464MYO7Ac.6061A>T (p.Lys2021Ter)
c.3862A>T
c.5914A>T (p.Lys1972Ter)
c.3487A>T (p.Lys1163Ter)
c.5947A>T (p.Lys1983Ter)
n.3597A>T
n.25+250A>T
n.1528A>T
c.5944A>T (p.Lys1982Ter)
c.6052A>T (p.Lys2018Ter)
c.6055A>T (p.Lys2019Ter)
c.6028A>T (p.Lys2010Ter)
c.5965A>T (p.Lys1989Ter)
c.5836A>T (p.Lys1946Ter)
c.5824A>T (p.Lys1942Ter)
c.5797A>T (p.Lys1933Ter)
n.6381A>T
n.6355A>T
c.6151A>T (p.Lys2051Ter)
c.6145A>T (p.Lys2049Ter)
c.6142A>T (p.Lys2048Ter)
c.6037A>T (p.Lys2013Ter)
c.6034A>T (p.Lys2012Ter)
n.6140A>T
n.6081A>T
n.6126A>T
11g.77211162A=CA1984129827MYO7Ac.6062A= (p.Lys2021=)
c.3863A=
c.5915A= (p.Lys1972=)
c.3488A= (p.Lys1163=)
c.5948A= (p.Lys1983=)
n.3598A=
n.25+251A=
n.1529A=
c.5945A= (p.Lys1982=)
c.6053A= (p.Lys2018=)
c.6056A= (p.Lys2019=)
c.6029A= (p.Lys2010=)
c.5966A= (p.Lys1989=)
c.5837A= (p.Lys1946=)
c.5825A= (p.Lys1942=)
c.5798A= (p.Lys1933=)
n.6382A=
n.6356A=
c.6152A= (p.Lys2051=)
c.6146A= (p.Lys2049=)
c.6143A= (p.Lys2048=)
c.6038A= (p.Lys2013=)
c.6035A= (p.Lys2012=)
n.6141A=
n.6082A=
n.6127A=
11g.77211162A>CCA381935467MYO7Ac.6062A>C (p.Lys2021Thr)
c.3863A>C
c.5915A>C (p.Lys1972Thr)
c.3488A>C (p.Lys1163Thr)
c.5948A>C (p.Lys1983Thr)
n.3598A>C
n.25+251A>C
n.1529A>C
c.5945A>C (p.Lys1982Thr)
c.6053A>C (p.Lys2018Thr)
c.6056A>C (p.Lys2019Thr)
c.6029A>C (p.Lys2010Thr)
c.5966A>C (p.Lys1989Thr)
c.5837A>C (p.Lys1946Thr)
c.5825A>C (p.Lys1942Thr)
c.5798A>C (p.Lys1933Thr)
n.6382A>C
n.6356A>C
c.6152A>C (p.Lys2051Thr)
c.6146A>C (p.Lys2049Thr)
c.6143A>C (p.Lys2048Thr)
c.6038A>C (p.Lys2013Thr)
c.6035A>C (p.Lys2012Thr)
n.6141A>C
n.6082A>C
n.6127A>C
11g.77211162A>GCA10576905MYO7Ac.6062A>G (p.Lys2021Arg)
c.3863A>G
c.5915A>G (p.Lys1972Arg)
c.3488A>G (p.Lys1163Arg)
c.5948A>G (p.Lys1983Arg)
n.3598A>G
n.25+251A>G
n.1529A>G
c.5945A>G (p.Lys1982Arg)
c.6053A>G (p.Lys2018Arg)
c.6056A>G (p.Lys2019Arg)
c.6029A>G (p.Lys2010Arg)
c.5966A>G (p.Lys1989Arg)
c.5837A>G (p.Lys1946Arg)
c.5825A>G (p.Lys1942Arg)
c.5798A>G (p.Lys1933Arg)
n.6382A>G
n.6356A>G
c.6152A>G (p.Lys2051Arg)
c.6146A>G (p.Lys2049Arg)
c.6143A>G (p.Lys2048Arg)
c.6038A>G (p.Lys2013Arg)
c.6035A>G (p.Lys2012Arg)
n.6141A>G
n.6082A>G
n.6127A>G
 ClinVar dbSNP gnomAD v4
11g.77211162A>TCA381935470MYO7Ac.6062A>T (p.Lys2021Met)
c.3863A>T
c.5915A>T (p.Lys1972Met)
c.3488A>T (p.Lys1163Met)
c.5948A>T (p.Lys1983Met)
n.3598A>T
n.25+251A>T
n.1529A>T
c.5945A>T (p.Lys1982Met)
c.6053A>T (p.Lys2018Met)
c.6056A>T (p.Lys2019Met)
c.6029A>T (p.Lys2010Met)
c.5966A>T (p.Lys1989Met)
c.5837A>T (p.Lys1946Met)
c.5825A>T (p.Lys1942Met)
c.5798A>T (p.Lys1933Met)
n.6382A>T
n.6356A>T
c.6152A>T (p.Lys2051Met)
c.6146A>T (p.Lys2049Met)
c.6143A>T (p.Lys2048Met)
c.6038A>T (p.Lys2013Met)
c.6035A>T (p.Lys2012Met)
n.6141A>T
n.6082A>T
n.6127A>T
 gnomAD v4
11g.77211162_77211163delinsGACA2697548854MYO7Ac.6062_6063delinsGA (p.Lys2021Arg)
c.3863_3864delinsGA
c.5915_5916delinsGA (p.Lys1972Arg)
c.3488_3489delinsGA (p.Lys1163Arg)
c.5948_5949delinsGA (p.Lys1983Arg)
n.3598_3599delinsGA
n.25+251_25+252delinsGA
n.1529_1530delinsGA
c.5945_5946delinsGA (p.Lys1982Arg)
c.6053_6054delinsGA (p.Lys2018Arg)
c.6056_6057delinsGA (p.Lys2019Arg)
c.6029_6030delinsGA (p.Lys2010Arg)
c.5966_5967delinsGA (p.Lys1989Arg)
c.5837_5838delinsGA (p.Lys1946Arg)
c.5825_5826delinsGA (p.Lys1942Arg)
c.5798_5799delinsGA (p.Lys1933Arg)
n.6382_6383delinsGA
n.6356_6357delinsGA
c.6152_6153delinsGA (p.Lys2051Arg)
c.6146_6147delinsGA (p.Lys2049Arg)
c.6143_6144delinsGA (p.Lys2048Arg)
c.6038_6039delinsGA (p.Lys2013Arg)
c.6035_6036delinsGA (p.Lys2012Arg)
n.6141_6142delinsGA
n.6082_6083delinsGA
n.6127_6128delinsGA
 ClinVar
11g.77211163G>ACA132418MYO7Ac.6063G>A (p.Lys2021=)
c.3864G>A
c.5916G>A (p.Lys1972=)
c.3489G>A (p.Lys1163=)
c.5949G>A (p.Lys1983=)
n.3599G>A
n.25+252G>A
n.1530G>A
c.5946G>A (p.Lys1982=)
c.6054G>A (p.Lys2018=)
c.6057G>A (p.Lys2019=)
c.6030G>A (p.Lys2010=)
c.5967G>A (p.Lys1989=)
c.5838G>A (p.Lys1946=)
c.5826G>A (p.Lys1942=)
c.5799G>A (p.Lys1933=)
n.6383G>A
n.6357G>A
c.6153G>A (p.Lys2051=)
c.6147G>A (p.Lys2049=)
c.6144G>A (p.Lys2048=)
c.6039G>A (p.Lys2013=)
c.6036G>A (p.Lys2012=)
n.6142G>A
n.6083G>A
n.6128G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77211163G>CCA381935488MYO7Ac.6063G>C (p.Lys2021Asn)
c.3864G>C
c.5916G>C (p.Lys1972Asn)
c.3489G>C (p.Lys1163Asn)
c.5949G>C (p.Lys1983Asn)
n.3599G>C
n.25+252G>C
n.1530G>C
c.5946G>C (p.Lys1982Asn)
c.6054G>C (p.Lys2018Asn)
c.6057G>C (p.Lys2019Asn)
c.6030G>C (p.Lys2010Asn)
c.5967G>C (p.Lys1989Asn)
c.5838G>C (p.Lys1946Asn)
c.5826G>C (p.Lys1942Asn)
c.5799G>C (p.Lys1933Asn)
n.6383G>C
n.6357G>C
c.6153G>C (p.Lys2051Asn)
c.6147G>C (p.Lys2049Asn)
c.6144G>C (p.Lys2048Asn)
c.6039G>C (p.Lys2013Asn)
c.6036G>C (p.Lys2012Asn)
n.6142G>C
n.6083G>C
n.6128G>C
11g.77211163G=CA1984129828MYO7Ac.6063G= (p.Lys2021=)
c.3864G=
c.5916G= (p.Lys1972=)
c.3489G= (p.Lys1163=)
c.5949G= (p.Lys1983=)
n.3599G=
n.25+252G=
n.1530G=
c.5946G= (p.Lys1982=)
c.6054G= (p.Lys2018=)
c.6057G= (p.Lys2019=)
c.6030G= (p.Lys2010=)
c.5967G= (p.Lys1989=)
c.5838G= (p.Lys1946=)
c.5826G= (p.Lys1942=)
c.5799G= (p.Lys1933=)
n.6383G=
n.6357G=
c.6153G= (p.Lys2051=)
c.6147G= (p.Lys2049=)
c.6144G= (p.Lys2048=)
c.6039G= (p.Lys2013=)
c.6036G= (p.Lys2012=)
n.6142G=
n.6083G=
n.6128G=
11g.77211163G>TCA381935486MYO7Ac.6063G>T (p.Lys2021Asn)
c.3864G>T
c.5916G>T (p.Lys1972Asn)
c.3489G>T (p.Lys1163Asn)
c.5949G>T (p.Lys1983Asn)
n.3599G>T
n.25+252G>T
n.1530G>T
c.5946G>T (p.Lys1982Asn)
c.6054G>T (p.Lys2018Asn)
c.6057G>T (p.Lys2019Asn)
c.6030G>T (p.Lys2010Asn)
c.5967G>T (p.Lys1989Asn)
c.5838G>T (p.Lys1946Asn)
c.5826G>T (p.Lys1942Asn)
c.5799G>T (p.Lys1933Asn)
n.6383G>T
n.6357G>T
c.6153G>T (p.Lys2051Asn)
c.6147G>T (p.Lys2049Asn)
c.6144G>T (p.Lys2048Asn)
c.6039G>T (p.Lys2013Asn)
c.6036G>T (p.Lys2012Asn)
n.6142G>T
n.6083G>T
n.6128G>T
11g.77211164T>ACA381935493MYO7Ac.6064T>A (p.Tyr2022Asn)
c.3865T>A
c.5917T>A (p.Tyr1973Asn)
c.3490T>A (p.Tyr1164Asn)
c.5950T>A (p.Tyr1984Asn)
n.3600T>A
n.25+253T>A
n.1531T>A
c.5947T>A (p.Tyr1983Asn)
c.6055T>A (p.Tyr2019Asn)
c.6058T>A (p.Tyr2020Asn)
c.6031T>A (p.Tyr2011Asn)
c.5968T>A (p.Tyr1990Asn)
c.5839T>A (p.Tyr1947Asn)
c.5827T>A (p.Tyr1943Asn)
c.5800T>A (p.Tyr1934Asn)
n.6384T>A
n.6358T>A
c.6154T>A (p.Tyr2052Asn)
c.6148T>A (p.Tyr2050Asn)
c.6145T>A (p.Tyr2049Asn)
c.6040T>A (p.Tyr2014Asn)
c.6037T>A (p.Tyr2013Asn)
n.6143T>A
n.6084T>A
n.6129T>A
11g.77211164T>CCA381935495MYO7Ac.6064T>C (p.Tyr2022His)
c.3865T>C
c.5917T>C (p.Tyr1973His)
c.3490T>C (p.Tyr1164His)
c.5950T>C (p.Tyr1984His)
n.3600T>C
n.25+253T>C
n.1531T>C
c.5947T>C (p.Tyr1983His)
c.6055T>C (p.Tyr2019His)
c.6058T>C (p.Tyr2020His)
c.6031T>C (p.Tyr2011His)
c.5968T>C (p.Tyr1990His)
c.5839T>C (p.Tyr1947His)
c.5827T>C (p.Tyr1943His)
c.5800T>C (p.Tyr1934His)
n.6384T>C
n.6358T>C
c.6154T>C (p.Tyr2052His)
c.6148T>C (p.Tyr2050His)
c.6145T>C (p.Tyr2049His)
c.6040T>C (p.Tyr2014His)
c.6037T>C (p.Tyr2013His)
n.6143T>C
n.6084T>C
n.6129T>C
 dbSNP gnomAD v4
11g.77211164T>GCA381935497MYO7Ac.6064T>G (p.Tyr2022Asp)
c.3865T>G
c.5917T>G (p.Tyr1973Asp)
c.3490T>G (p.Tyr1164Asp)
c.5950T>G (p.Tyr1984Asp)
n.3600T>G
n.25+253T>G
n.1531T>G
c.5947T>G (p.Tyr1983Asp)
c.6055T>G (p.Tyr2019Asp)
c.6058T>G (p.Tyr2020Asp)
c.6031T>G (p.Tyr2011Asp)
c.5968T>G (p.Tyr1990Asp)
c.5839T>G (p.Tyr1947Asp)
c.5827T>G (p.Tyr1943Asp)
c.5800T>G (p.Tyr1934Asp)
n.6384T>G
n.6358T>G
c.6154T>G (p.Tyr2052Asp)
c.6148T>G (p.Tyr2050Asp)
c.6145T>G (p.Tyr2049Asp)
c.6040T>G (p.Tyr2014Asp)
c.6037T>G (p.Tyr2013Asp)
n.6143T>G
n.6084T>G
n.6129T>G
11g.77211164T=CA1984129829MYO7Ac.6064T= (p.Tyr2022=)
c.3865T=
c.5917T= (p.Tyr1973=)
c.3490T= (p.Tyr1164=)
c.5950T= (p.Tyr1984=)
n.3600T=
n.25+253T=
n.1531T=
c.5947T= (p.Tyr1983=)
c.6055T= (p.Tyr2019=)
c.6058T= (p.Tyr2020=)
c.6031T= (p.Tyr2011=)
c.5968T= (p.Tyr1990=)
c.5839T= (p.Tyr1947=)
c.5827T= (p.Tyr1943=)
c.5800T= (p.Tyr1934=)
n.6384T=
n.6358T=
c.6154T= (p.Tyr2052=)
c.6148T= (p.Tyr2050=)
c.6145T= (p.Tyr2049=)
c.6040T= (p.Tyr2014=)
c.6037T= (p.Tyr2013=)
n.6143T=
n.6084T=
n.6129T=
11g.77211165A>CCA381935500MYO7Ac.6065A>C (p.Tyr2022Ser)
c.3866A>C
c.5918A>C (p.Tyr1973Ser)
c.3491A>C (p.Tyr1164Ser)
c.5951A>C (p.Tyr1984Ser)
n.3601A>C
n.25+254A>C
n.1532A>C
c.5948A>C (p.Tyr1983Ser)
c.6056A>C (p.Tyr2019Ser)
c.6059A>C (p.Tyr2020Ser)
c.6032A>C (p.Tyr2011Ser)
c.5969A>C (p.Tyr1990Ser)
c.5840A>C (p.Tyr1947Ser)
c.5828A>C (p.Tyr1943Ser)
c.5801A>C (p.Tyr1934Ser)
n.6385A>C
n.6359A>C
c.6155A>C (p.Tyr2052Ser)
c.6149A>C (p.Tyr2050Ser)
c.6146A>C (p.Tyr2049Ser)
c.6041A>C (p.Tyr2014Ser)
c.6038A>C (p.Tyr2013Ser)
n.6144A>C
n.6085A>C
n.6130A>C
11g.77211165A>GCA381935502MYO7Ac.6065A>G (p.Tyr2022Cys)
c.3866A>G
c.5918A>G (p.Tyr1973Cys)
c.3491A>G (p.Tyr1164Cys)
c.5951A>G (p.Tyr1984Cys)
n.3601A>G
n.25+254A>G
n.1532A>G
c.5948A>G (p.Tyr1983Cys)
c.6056A>G (p.Tyr2019Cys)
c.6059A>G (p.Tyr2020Cys)
c.6032A>G (p.Tyr2011Cys)
c.5969A>G (p.Tyr1990Cys)
c.5840A>G (p.Tyr1947Cys)
c.5828A>G (p.Tyr1943Cys)
c.5801A>G (p.Tyr1934Cys)
n.6385A>G
n.6359A>G
c.6155A>G (p.Tyr2052Cys)
c.6149A>G (p.Tyr2050Cys)
c.6146A>G (p.Tyr2049Cys)
c.6041A>G (p.Tyr2014Cys)
c.6038A>G (p.Tyr2013Cys)
n.6144A>G
n.6085A>G
n.6130A>G
11g.77211165A>TCA381935503MYO7Ac.6065A>T (p.Tyr2022Phe)
c.3866A>T
c.5918A>T (p.Tyr1973Phe)
c.3491A>T (p.Tyr1164Phe)
c.5951A>T (p.Tyr1984Phe)
n.3601A>T
n.25+254A>T
n.1532A>T
c.5948A>T (p.Tyr1983Phe)
c.6056A>T (p.Tyr2019Phe)
c.6059A>T (p.Tyr2020Phe)
c.6032A>T (p.Tyr2011Phe)
c.5969A>T (p.Tyr1990Phe)
c.5840A>T (p.Tyr1947Phe)
c.5828A>T (p.Tyr1943Phe)
c.5801A>T (p.Tyr1934Phe)
n.6385A>T
n.6359A>T
c.6155A>T (p.Tyr2052Phe)
c.6149A>T (p.Tyr2050Phe)
c.6146A>T (p.Tyr2049Phe)
c.6041A>T (p.Tyr2014Phe)
c.6038A>T (p.Tyr2013Phe)
n.6144A>T
n.6085A>T
n.6130A>T
11g.77211166T>ACA381935505MYO7Ac.6066T>A (p.Tyr2022Ter)
c.3867T>A
c.5919T>A (p.Tyr1973Ter)
c.3492T>A (p.Tyr1164Ter)
c.5952T>A (p.Tyr1984Ter)
n.3602T>A
n.25+255T>A
n.1533T>A
c.5949T>A (p.Tyr1983Ter)
c.6057T>A (p.Tyr2019Ter)
c.6060T>A (p.Tyr2020Ter)
c.6033T>A (p.Tyr2011Ter)
c.5970T>A (p.Tyr1990Ter)
c.5841T>A (p.Tyr1947Ter)
c.5829T>A (p.Tyr1943Ter)
c.5802T>A (p.Tyr1934Ter)
n.6386T>A
n.6360T>A
c.6156T>A (p.Tyr2052Ter)
c.6150T>A (p.Tyr2050Ter)
c.6147T>A (p.Tyr2049Ter)
c.6042T>A (p.Tyr2014Ter)
c.6039T>A (p.Tyr2013Ter)
n.6145T>A
n.6086T>A
n.6131T>A
11g.77211166T>CCA475791876MYO7Ac.6066T>C (p.Tyr2022=)
c.3867T>C
c.5919T>C (p.Tyr1973=)
c.3492T>C (p.Tyr1164=)
c.5952T>C (p.Tyr1984=)
n.3602T>C
n.25+255T>C
n.1533T>C
c.5949T>C (p.Tyr1983=)
c.6057T>C (p.Tyr2019=)
c.6060T>C (p.Tyr2020=)
c.6033T>C (p.Tyr2011=)
c.5970T>C (p.Tyr1990=)
c.5841T>C (p.Tyr1947=)
c.5829T>C (p.Tyr1943=)
c.5802T>C (p.Tyr1934=)
n.6386T>C
n.6360T>C
c.6156T>C (p.Tyr2052=)
c.6150T>C (p.Tyr2050=)
c.6147T>C (p.Tyr2049=)
c.6042T>C (p.Tyr2014=)
c.6039T>C (p.Tyr2013=)
n.6145T>C
n.6086T>C
n.6131T>C
 dbSNP gnomAD v2 gnomAD v4
11g.77211166T>GCA381935507MYO7Ac.6066T>G (p.Tyr2022Ter)
c.3867T>G
c.5919T>G (p.Tyr1973Ter)
c.3492T>G (p.Tyr1164Ter)
c.5952T>G (p.Tyr1984Ter)
n.3602T>G
n.25+255T>G
n.1533T>G
c.5949T>G (p.Tyr1983Ter)
c.6057T>G (p.Tyr2019Ter)
c.6060T>G (p.Tyr2020Ter)
c.6033T>G (p.Tyr2011Ter)
c.5970T>G (p.Tyr1990Ter)
c.5841T>G (p.Tyr1947Ter)
c.5829T>G (p.Tyr1943Ter)
c.5802T>G (p.Tyr1934Ter)
n.6386T>G
n.6360T>G
c.6156T>G (p.Tyr2052Ter)
c.6150T>G (p.Tyr2050Ter)
c.6147T>G (p.Tyr2049Ter)
c.6042T>G (p.Tyr2014Ter)
c.6039T>G (p.Tyr2013Ter)
n.6145T>G
n.6086T>G
n.6131T>G
11g.77211166T=CA1984129830MYO7Ac.6066T= (p.Tyr2022=)
c.3867T=
c.5919T= (p.Tyr1973=)
c.3492T= (p.Tyr1164=)
c.5952T= (p.Tyr1984=)
n.3602T=
n.25+255T=
n.1533T=
c.5949T= (p.Tyr1983=)
c.6057T= (p.Tyr2019=)
c.6060T= (p.Tyr2020=)
c.6033T= (p.Tyr2011=)
c.5970T= (p.Tyr1990=)
c.5841T= (p.Tyr1947=)
c.5829T= (p.Tyr1943=)
c.5802T= (p.Tyr1934=)
n.6386T=
n.6360T=
c.6156T= (p.Tyr2052=)
c.6150T= (p.Tyr2050=)
c.6147T= (p.Tyr2049=)
c.6042T= (p.Tyr2014=)
c.6039T= (p.Tyr2013=)
n.6145T=
n.6086T=
n.6131T=
11g.77211167C>ACA381935510MYO7Ac.6067C>A (p.Leu2023Ile)
c.3868C>A
c.5920C>A (p.Leu1974Ile)
c.3493C>A (p.Leu1165Ile)
c.5953C>A (p.Leu1985Ile)
n.3603C>A
n.25+256C>A
n.1534C>A
c.5950C>A (p.Leu1984Ile)
c.6058C>A (p.Leu2020Ile)
c.6061C>A (p.Leu2021Ile)
c.6034C>A (p.Leu2012Ile)
c.5971C>A (p.Leu1991Ile)
c.5842C>A (p.Leu1948Ile)
c.5830C>A (p.Leu1944Ile)
c.5803C>A (p.Leu1935Ile)
n.6387C>A
n.6361C>A
c.6157C>A (p.Leu2053Ile)
c.6151C>A (p.Leu2051Ile)
c.6148C>A (p.Leu2050Ile)
c.6043C>A (p.Leu2015Ile)
c.6040C>A (p.Leu2014Ile)
n.6146C>A
n.6087C>A
n.6132C>A
 gnomAD v4
11g.77211167C>GCA381935513MYO7Ac.6067C>G (p.Leu2023Val)
c.3868C>G
c.5920C>G (p.Leu1974Val)
c.3493C>G (p.Leu1165Val)
c.5953C>G (p.Leu1985Val)
n.3603C>G
n.25+256C>G
n.1534C>G
c.5950C>G (p.Leu1984Val)
c.6058C>G (p.Leu2020Val)
c.6061C>G (p.Leu2021Val)
c.6034C>G (p.Leu2012Val)
c.5971C>G (p.Leu1991Val)
c.5842C>G (p.Leu1948Val)
c.5830C>G (p.Leu1944Val)
c.5803C>G (p.Leu1935Val)
n.6387C>G
n.6361C>G
c.6157C>G (p.Leu2053Val)
c.6151C>G (p.Leu2051Val)
c.6148C>G (p.Leu2050Val)
c.6043C>G (p.Leu2015Val)
c.6040C>G (p.Leu2014Val)
n.6146C>G
n.6087C>G
n.6132C>G
11g.77211167C>TCA381935515MYO7Ac.6067C>T (p.Leu2023Phe)
c.3868C>T
c.5920C>T (p.Leu1974Phe)
c.3493C>T (p.Leu1165Phe)
c.5953C>T (p.Leu1985Phe)
n.3603C>T
n.25+256C>T
n.1534C>T
c.5950C>T (p.Leu1984Phe)
c.6058C>T (p.Leu2020Phe)
c.6061C>T (p.Leu2021Phe)
c.6034C>T (p.Leu2012Phe)
c.5971C>T (p.Leu1991Phe)
c.5842C>T (p.Leu1948Phe)
c.5830C>T (p.Leu1944Phe)
c.5803C>T (p.Leu1935Phe)
n.6387C>T
n.6361C>T
c.6157C>T (p.Leu2053Phe)
c.6151C>T (p.Leu2051Phe)
c.6148C>T (p.Leu2050Phe)
c.6043C>T (p.Leu2015Phe)
c.6040C>T (p.Leu2014Phe)
n.6146C>T
n.6087C>T
n.6132C>T
 ClinVar gnomAD v4
11g.77211168T>ACA381935518MYO7Ac.6068T>A (p.Leu2023His)
c.3869T>A
c.5921T>A (p.Leu1974His)
c.3494T>A (p.Leu1165His)
c.5954T>A (p.Leu1985His)
n.3604T>A
n.25+257T>A
n.1535T>A
c.5951T>A (p.Leu1984His)
c.6059T>A (p.Leu2020His)
c.6062T>A (p.Leu2021His)
c.6035T>A (p.Leu2012His)
c.5972T>A (p.Leu1991His)
c.5843T>A (p.Leu1948His)
c.5831T>A (p.Leu1944His)
c.5804T>A (p.Leu1935His)
n.6388T>A
n.6362T>A
c.6158T>A (p.Leu2053His)
c.6152T>A (p.Leu2051His)
c.6149T>A (p.Leu2050His)
c.6044T>A (p.Leu2015His)
c.6041T>A (p.Leu2014His)
n.6147T>A
n.6088T>A
n.6133T>A
 ClinVar gnomAD v4
11g.77211168T>CCA381935521MYO7Ac.6068T>C (p.Leu2023Pro)
c.3869T>C
c.5921T>C (p.Leu1974Pro)
c.3494T>C (p.Leu1165Pro)
c.5954T>C (p.Leu1985Pro)
n.3604T>C
n.25+257T>C
n.1535T>C
c.5951T>C (p.Leu1984Pro)
c.6059T>C (p.Leu2020Pro)
c.6062T>C (p.Leu2021Pro)
c.6035T>C (p.Leu2012Pro)
c.5972T>C (p.Leu1991Pro)
c.5843T>C (p.Leu1948Pro)
c.5831T>C (p.Leu1944Pro)
c.5804T>C (p.Leu1935Pro)
n.6388T>C
n.6362T>C
c.6158T>C (p.Leu2053Pro)
c.6152T>C (p.Leu2051Pro)
c.6149T>C (p.Leu2050Pro)
c.6044T>C (p.Leu2015Pro)
c.6041T>C (p.Leu2014Pro)
n.6147T>C
n.6088T>C
n.6133T>C
 gnomAD v4
11g.77211168T>GCA381935520MYO7Ac.6068T>G (p.Leu2023Arg)
c.3869T>G
c.5921T>G (p.Leu1974Arg)
c.3494T>G (p.Leu1165Arg)
c.5954T>G (p.Leu1985Arg)
n.3604T>G
n.25+257T>G
n.1535T>G
c.5951T>G (p.Leu1984Arg)
c.6059T>G (p.Leu2020Arg)
c.6062T>G (p.Leu2021Arg)
c.6035T>G (p.Leu2012Arg)
c.5972T>G (p.Leu1991Arg)
c.5843T>G (p.Leu1948Arg)
c.5831T>G (p.Leu1944Arg)
c.5804T>G (p.Leu1935Arg)
n.6388T>G
n.6362T>G
c.6158T>G (p.Leu2053Arg)
c.6152T>G (p.Leu2051Arg)
c.6149T>G (p.Leu2050Arg)
c.6044T>G (p.Leu2015Arg)
c.6041T>G (p.Leu2014Arg)
n.6147T>G
n.6088T>G
n.6133T>G
11g.77211169C>ACA475791877MYO7Ac.6069C>A (p.Leu2023=)
c.3870C>A
c.5922C>A (p.Leu1974=)
c.3495C>A (p.Leu1165=)
c.5955C>A (p.Leu1985=)
n.3605C>A
n.25+258C>A
n.1536C>A
c.5952C>A (p.Leu1984=)
c.6060C>A (p.Leu2020=)
c.6063C>A (p.Leu2021=)
c.6036C>A (p.Leu2012=)
c.5973C>A (p.Leu1991=)
c.5844C>A (p.Leu1948=)
c.5832C>A (p.Leu1944=)
c.5805C>A (p.Leu1935=)
n.6389C>A
n.6363C>A
c.6159C>A (p.Leu2053=)
c.6153C>A (p.Leu2051=)
c.6150C>A (p.Leu2050=)
c.6045C>A (p.Leu2015=)
c.6042C>A (p.Leu2014=)
n.6148C>A
n.6089C>A
n.6134C>A
 gnomAD v4
11g.77211169C=CA1984129831MYO7Ac.6069C= (p.Leu2023=)
c.3870C=
c.5922C= (p.Leu1974=)
c.3495C= (p.Leu1165=)
c.5955C= (p.Leu1985=)
n.3605C=
n.25+258C=
n.1536C=
c.5952C= (p.Leu1984=)
c.6060C= (p.Leu2020=)
c.6063C= (p.Leu2021=)
c.6036C= (p.Leu2012=)
c.5973C= (p.Leu1991=)
c.5844C= (p.Leu1948=)
c.5832C= (p.Leu1944=)
c.5805C= (p.Leu1935=)
n.6389C=
n.6363C=
c.6159C= (p.Leu2053=)
c.6153C= (p.Leu2051=)
c.6150C= (p.Leu2050=)
c.6045C= (p.Leu2015=)
c.6042C= (p.Leu2014=)
n.6148C=
n.6089C=
n.6134C=
11g.77211169C>GCA475791878MYO7Ac.6069C>G (p.Leu2023=)
c.3870C>G
c.5922C>G (p.Leu1974=)
c.3495C>G (p.Leu1165=)
c.5955C>G (p.Leu1985=)
n.3605C>G
n.25+258C>G
n.1536C>G
c.5952C>G (p.Leu1984=)
c.6060C>G (p.Leu2020=)
c.6063C>G (p.Leu2021=)
c.6036C>G (p.Leu2012=)
c.5973C>G (p.Leu1991=)
c.5844C>G (p.Leu1948=)
c.5832C>G (p.Leu1944=)
c.5805C>G (p.Leu1935=)
n.6389C>G
n.6363C>G
c.6159C>G (p.Leu2053=)
c.6153C>G (p.Leu2051=)
c.6150C>G (p.Leu2050=)
c.6045C>G (p.Leu2015=)
c.6042C>G (p.Leu2014=)
n.6148C>G
n.6089C>G
n.6134C>G
 dbSNP
11g.77211169C>TCA475791879MYO7Ac.6069C>T (p.Leu2023=)
c.3870C>T
c.5922C>T (p.Leu1974=)
c.3495C>T (p.Leu1165=)
c.5955C>T (p.Leu1985=)
n.3605C>T
n.25+258C>T
n.1536C>T
c.5952C>T (p.Leu1984=)
c.6060C>T (p.Leu2020=)
c.6063C>T (p.Leu2021=)
c.6036C>T (p.Leu2012=)
c.5973C>T (p.Leu1991=)
c.5844C>T (p.Leu1948=)
c.5832C>T (p.Leu1944=)
c.5805C>T (p.Leu1935=)
n.6389C>T
n.6363C>T
c.6159C>T (p.Leu2053=)
c.6153C>T (p.Leu2051=)
c.6150C>T (p.Leu2050=)
c.6045C>T (p.Leu2015=)
c.6042C>T (p.Leu2014=)
n.6148C>T
n.6089C>T
n.6134C>T
 ClinVar
11g.77211170C>ACA475791881MYO7Ac.6070C>A (p.Arg2024=)
c.3871C>A
c.5923C>A (p.Arg1975=)
c.3496C>A (p.Arg1166=)
c.5956C>A (p.Arg1986=)
n.3606C>A
n.25+259C>A
n.1537C>A
c.5953C>A (p.Arg1985=)
c.6061C>A (p.Arg2021=)
c.6064C>A (p.Arg2022=)
c.6037C>A (p.Arg2013=)
c.5974C>A (p.Arg1992=)
c.5845C>A (p.Arg1949=)
c.5833C>A (p.Arg1945=)
c.5806C>A (p.Arg1936=)
n.6390C>A
n.6364C>A
c.6160C>A (p.Arg2054=)
c.6154C>A (p.Arg2052=)
c.6151C>A (p.Arg2051=)
c.6046C>A (p.Arg2016=)
c.6043C>A (p.Arg2015=)
n.6149C>A
n.6090C>A
n.6135C>A
 dbSNP gnomAD v4
11g.77211170C=CA1984129832MYO7Ac.6070C= (p.Arg2024=)
c.3871C=
c.5923C= (p.Arg1975=)
c.3496C= (p.Arg1166=)
c.5956C= (p.Arg1986=)
n.3606C=
n.25+259C=
n.1537C=
c.5953C= (p.Arg1985=)
c.6061C= (p.Arg2021=)
c.6064C= (p.Arg2022=)
c.6037C= (p.Arg2013=)
c.5974C= (p.Arg1992=)
c.5845C= (p.Arg1949=)
c.5833C= (p.Arg1945=)
c.5806C= (p.Arg1936=)
n.6390C=
n.6364C=
c.6160C= (p.Arg2054=)
c.6154C= (p.Arg2052=)
c.6151C= (p.Arg2051=)
c.6046C= (p.Arg2016=)
c.6043C= (p.Arg2015=)
n.6149C=
n.6090C=
n.6135C=
11g.77211170C>GCA381935523MYO7Ac.6070C>G (p.Arg2024Gly)
c.3871C>G
c.5923C>G (p.Arg1975Gly)
c.3496C>G (p.Arg1166Gly)
c.5956C>G (p.Arg1986Gly)
n.3606C>G
n.25+259C>G
n.1537C>G
c.5953C>G (p.Arg1985Gly)
c.6061C>G (p.Arg2021Gly)
c.6064C>G (p.Arg2022Gly)
c.6037C>G (p.Arg2013Gly)
c.5974C>G (p.Arg1992Gly)
c.5845C>G (p.Arg1949Gly)
c.5833C>G (p.Arg1945Gly)
c.5806C>G (p.Arg1936Gly)
n.6390C>G
n.6364C>G
c.6160C>G (p.Arg2054Gly)
c.6154C>G (p.Arg2052Gly)
c.6151C>G (p.Arg2051Gly)
c.6046C>G (p.Arg2016Gly)
c.6043C>G (p.Arg2015Gly)
n.6149C>G
n.6090C>G
n.6135C>G
11g.77211170C>TCA278705MYO7Ac.6070C>T (p.Arg2024Ter)
c.3871C>T
c.5923C>T (p.Arg1975Ter)
c.3496C>T (p.Arg1166Ter)
c.5956C>T (p.Arg1986Ter)
n.3606C>T
n.25+259C>T
n.1537C>T
c.5953C>T (p.Arg1985Ter)
c.6061C>T (p.Arg2021Ter)
c.6064C>T (p.Arg2022Ter)
c.6037C>T (p.Arg2013Ter)
c.5974C>T (p.Arg1992Ter)
c.5845C>T (p.Arg1949Ter)
c.5833C>T (p.Arg1945Ter)
c.5806C>T (p.Arg1936Ter)
n.6390C>T
n.6364C>T
c.6160C>T (p.Arg2054Ter)
c.6154C>T (p.Arg2052Ter)
c.6151C>T (p.Arg2051Ter)
c.6046C>T (p.Arg2016Ter)
c.6043C>T (p.Arg2015Ter)
n.6149C>T
n.6090C>T
n.6135C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77211170_77211171insAGCCTCAGCTCA2533697229MYO7Ac.6070_6071insAGCCTCAGCT (p.Arg2024GlnfsTer?)
c.3871_3872insAGCCTCAGCT
c.5923_5924insAGCCTCAGCT (p.Arg1975GlnfsTer?)
c.3496_3497insAGCCTCAGCT (p.Arg1166GlnfsTer?)
c.5956_5957insAGCCTCAGCT (p.Arg1986GlnfsTer?)
n.3606_3607insAGCCTCAGCT
n.25+259_25+260insAGCCTCAGCT
n.1537_1538insAGCCTCAGCT
c.5953_5954insAGCCTCAGCT (p.Arg1985GlnfsTer?)
c.6061_6062insAGCCTCAGCT (p.Arg2021GlnfsTer?)
c.6064_6065insAGCCTCAGCT (p.Arg2022GlnfsTer?)
c.6037_6038insAGCCTCAGCT (p.Arg2013GlnfsTer?)
c.5974_5975insAGCCTCAGCT (p.Arg1992GlnfsTer?)
c.5845_5846insAGCCTCAGCT (p.Arg1949GlnfsTer?)
c.5833_5834insAGCCTCAGCT (p.Arg1945GlnfsTer?)
c.5806_5807insAGCCTCAGCT (p.Arg1936GlnfsTer?)
n.6390_6391insAGCCTCAGCT
n.6364_6365insAGCCTCAGCT
c.6160_6161insAGCCTCAGCT (p.Arg2054GlnfsTer?)
c.6154_6155insAGCCTCAGCT (p.Arg2052GlnfsTer?)
c.6151_6152insAGCCTCAGCT (p.Arg2051GlnfsTer?)
c.6046_6047insAGCCTCAGCT (p.Arg2016GlnfsTer?)
c.6043_6044insAGCCTCAGCT (p.Arg2015GlnfsTer?)
n.6149_6150insAGCCTCAGCT
n.6090_6091insAGCCTCAGCT
n.6135_6136insAGCCTCAGCT
11g.77211171G>ACA6198930MYO7Ac.6071G>A (p.Arg2024Gln)
c.3872G>A
c.5924G>A (p.Arg1975Gln)
c.3497G>A (p.Arg1166Gln)
c.5957G>A (p.Arg1986Gln)
n.3607G>A
n.25+260G>A
n.1538G>A
c.5954G>A (p.Arg1985Gln)
c.6062G>A (p.Arg2021Gln)
c.6065G>A (p.Arg2022Gln)
c.6038G>A (p.Arg2013Gln)
c.5975G>A (p.Arg1992Gln)
c.5846G>A (p.Arg1949Gln)
c.5834G>A (p.Arg1945Gln)
c.5807G>A (p.Arg1936Gln)
n.6391G>A
n.6365G>A
c.6161G>A (p.Arg2054Gln)
c.6155G>A (p.Arg2052Gln)
c.6152G>A (p.Arg2051Gln)
c.6047G>A (p.Arg2016Gln)
c.6044G>A (p.Arg2015Gln)
n.6150G>A
n.6091G>A
n.6136G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.77211171G>CCA381935528MYO7Ac.6071G>C (p.Arg2024Pro)
c.3872G>C
c.5924G>C (p.Arg1975Pro)
c.3497G>C (p.Arg1166Pro)
c.5957G>C (p.Arg1986Pro)
n.3607G>C
n.25+260G>C
n.1538G>C
c.5954G>C (p.Arg1985Pro)
c.6062G>C (p.Arg2021Pro)
c.6065G>C (p.Arg2022Pro)
c.6038G>C (p.Arg2013Pro)
c.5975G>C (p.Arg1992Pro)
c.5846G>C (p.Arg1949Pro)
c.5834G>C (p.Arg1945Pro)
c.5807G>C (p.Arg1936Pro)
n.6391G>C
n.6365G>C
c.6161G>C (p.Arg2054Pro)
c.6155G>C (p.Arg2052Pro)
c.6152G>C (p.Arg2051Pro)
c.6047G>C (p.Arg2016Pro)
c.6044G>C (p.Arg2015Pro)
n.6150G>C
n.6091G>C
n.6136G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.77211171G=CA1984129833MYO7Ac.6071G= (p.Arg2024=)
c.3872G=
c.5924G= (p.Arg1975=)
c.3497G= (p.Arg1166=)
c.5957G= (p.Arg1986=)
n.3607G=
n.25+260G=
n.1538G=
c.5954G= (p.Arg1985=)
c.6062G= (p.Arg2021=)
c.6065G= (p.Arg2022=)
c.6038G= (p.Arg2013=)
c.5975G= (p.Arg1992=)
c.5846G= (p.Arg1949=)
c.5834G= (p.Arg1945=)
c.5807G= (p.Arg1936=)
n.6391G=
n.6365G=
c.6161G= (p.Arg2054=)
c.6155G= (p.Arg2052=)
c.6152G= (p.Arg2051=)
c.6047G= (p.Arg2016=)
c.6044G= (p.Arg2015=)
n.6150G=
n.6091G=
n.6136G=
11g.77211171G>TCA381935530MYO7Ac.6071G>T (p.Arg2024Leu)
c.3872G>T
c.5924G>T (p.Arg1975Leu)
c.3497G>T (p.Arg1166Leu)
c.5957G>T (p.Arg1986Leu)
n.3607G>T
n.25+260G>T
n.1538G>T
c.5954G>T (p.Arg1985Leu)
c.6062G>T (p.Arg2021Leu)
c.6065G>T (p.Arg2022Leu)
c.6038G>T (p.Arg2013Leu)
c.5975G>T (p.Arg1992Leu)
c.5846G>T (p.Arg1949Leu)
c.5834G>T (p.Arg1945Leu)
c.5807G>T (p.Arg1936Leu)
n.6391G>T
n.6365G>T
c.6161G>T (p.Arg2054Leu)
c.6155G>T (p.Arg2052Leu)
c.6152G>T (p.Arg2051Leu)
c.6047G>T (p.Arg2016Leu)
c.6044G>T (p.Arg2015Leu)
n.6150G>T
n.6091G>T
n.6136G>T
 gnomAD v4
11g.77211172A>CCA475791885MYO7Ac.6072A>C (p.Arg2024=)
c.3873A>C
c.5925A>C (p.Arg1975=)
c.3498A>C (p.Arg1166=)
c.5958A>C (p.Arg1986=)
n.3608A>C
n.25+261A>C
n.1539A>C
c.5955A>C (p.Arg1985=)
c.6063A>C (p.Arg2021=)
c.6066A>C (p.Arg2022=)
c.6039A>C (p.Arg2013=)
c.5976A>C (p.Arg1992=)
c.5847A>C (p.Arg1949=)
c.5835A>C (p.Arg1945=)
c.5808A>C (p.Arg1936=)
n.6392A>C
n.6366A>C
c.6162A>C (p.Arg2054=)
c.6156A>C (p.Arg2052=)
c.6153A>C (p.Arg2051=)
c.6048A>C (p.Arg2016=)
c.6045A>C (p.Arg2015=)
n.6151A>C
n.6092A>C
n.6137A>C
11g.77211172A>GCA475791883MYO7Ac.6072A>G (p.Arg2024=)
c.3873A>G
c.5925A>G (p.Arg1975=)
c.3498A>G (p.Arg1166=)
c.5958A>G (p.Arg1986=)
n.3608A>G
n.25+261A>G
n.1539A>G
c.5955A>G (p.Arg1985=)
c.6063A>G (p.Arg2021=)
c.6066A>G (p.Arg2022=)
c.6039A>G (p.Arg2013=)
c.5976A>G (p.Arg1992=)
c.5847A>G (p.Arg1949=)
c.5835A>G (p.Arg1945=)
c.5808A>G (p.Arg1936=)
n.6392A>G
n.6366A>G
c.6162A>G (p.Arg2054=)
c.6156A>G (p.Arg2052=)
c.6153A>G (p.Arg2051=)
c.6048A>G (p.Arg2016=)
c.6045A>G (p.Arg2015=)
n.6151A>G
n.6092A>G
n.6137A>G
11g.77211172A>TCA475791882MYO7Ac.6072A>T (p.Arg2024=)
c.3873A>T
c.5925A>T (p.Arg1975=)
c.3498A>T (p.Arg1166=)
c.5958A>T (p.Arg1986=)
n.3608A>T
n.25+261A>T
n.1539A>T
c.5955A>T (p.Arg1985=)
c.6063A>T (p.Arg2021=)
c.6066A>T (p.Arg2022=)
c.6039A>T (p.Arg2013=)
c.5976A>T (p.Arg1992=)
c.5847A>T (p.Arg1949=)
c.5835A>T (p.Arg1945=)
c.5808A>T (p.Arg1936=)
n.6392A>T
n.6366A>T
c.6162A>T (p.Arg2054=)
c.6156A>T (p.Arg2052=)
c.6153A>T (p.Arg2051=)
c.6048A>T (p.Arg2016=)
c.6045A>T (p.Arg2015=)
n.6151A>T
n.6092A>T
n.6137A>T
 gnomAD v4
11g.77211173G>ACA381935533MYO7Ac.6073G>A (p.Gly2025Ser)
c.3874G>A
c.5926G>A (p.Gly1976Ser)
c.3499G>A (p.Gly1167Ser)
c.5959G>A (p.Gly1987Ser)
n.3609G>A
n.25+262G>A
n.1540G>A
c.5956G>A (p.Gly1986Ser)
c.6064G>A (p.Gly2022Ser)
c.6067G>A (p.Gly2023Ser)
c.6040G>A (p.Gly2014Ser)
c.5977G>A (p.Gly1993Ser)
c.5848G>A (p.Gly1950Ser)
c.5836G>A (p.Gly1946Ser)
c.5809G>A (p.Gly1937Ser)
n.6393G>A
n.6367G>A
c.6163G>A (p.Gly2055Ser)
c.6157G>A (p.Gly2053Ser)
c.6154G>A (p.Gly2052Ser)
c.6049G>A (p.Gly2017Ser)
c.6046G>A (p.Gly2016Ser)
n.6152G>A
n.6093G>A
n.6138G>A
 gnomAD v4
11g.77211173G>CCA381935535MYO7Ac.6073G>C (p.Gly2025Arg)
c.3874G>C
c.5926G>C (p.Gly1976Arg)
c.3499G>C (p.Gly1167Arg)
c.5959G>C (p.Gly1987Arg)
n.3609G>C
n.25+262G>C
n.1540G>C
c.5956G>C (p.Gly1986Arg)
c.6064G>C (p.Gly2022Arg)
c.6067G>C (p.Gly2023Arg)
c.6040G>C (p.Gly2014Arg)
c.5977G>C (p.Gly1993Arg)
c.5848G>C (p.Gly1950Arg)
c.5836G>C (p.Gly1946Arg)
c.5809G>C (p.Gly1937Arg)
n.6393G>C
n.6367G>C
c.6163G>C (p.Gly2055Arg)
c.6157G>C (p.Gly2053Arg)
c.6154G>C (p.Gly2052Arg)
c.6049G>C (p.Gly2017Arg)
c.6046G>C (p.Gly2016Arg)
n.6152G>C
n.6093G>C
n.6138G>C
11g.77211173G>TCA381935538MYO7Ac.6073G>T (p.Gly2025Cys)
c.3874G>T
c.5926G>T (p.Gly1976Cys)
c.3499G>T (p.Gly1167Cys)
c.5959G>T (p.Gly1987Cys)
n.3609G>T
n.25+262G>T
n.1540G>T
c.5956G>T (p.Gly1986Cys)
c.6064G>T (p.Gly2022Cys)
c.6067G>T (p.Gly2023Cys)
c.6040G>T (p.Gly2014Cys)
c.5977G>T (p.Gly1993Cys)
c.5848G>T (p.Gly1950Cys)
c.5836G>T (p.Gly1946Cys)
c.5809G>T (p.Gly1937Cys)
n.6393G>T
n.6367G>T
c.6163G>T (p.Gly2055Cys)
c.6157G>T (p.Gly2053Cys)
c.6154G>T (p.Gly2052Cys)
c.6049G>T (p.Gly2017Cys)
c.6046G>T (p.Gly2016Cys)
n.6152G>T
n.6093G>T
n.6138G>T
 gnomAD v4
11g.77211174G>ACA381935541MYO7Ac.6074G>A (p.Gly2025Asp)
c.3875G>A
c.5927G>A (p.Gly1976Asp)
c.3500G>A (p.Gly1167Asp)
c.5960G>A (p.Gly1987Asp)
n.3610G>A
n.25+263G>A
n.1541G>A
c.5957G>A (p.Gly1986Asp)
c.6065G>A (p.Gly2022Asp)
c.6068G>A (p.Gly2023Asp)
c.6041G>A (p.Gly2014Asp)
c.5978G>A (p.Gly1993Asp)
c.5849G>A (p.Gly1950Asp)
c.5837G>A (p.Gly1946Asp)
c.5810G>A (p.Gly1937Asp)
n.6394G>A
n.6368G>A
c.6164G>A (p.Gly2055Asp)
c.6158G>A (p.Gly2053Asp)
c.6155G>A (p.Gly2052Asp)
c.6050G>A (p.Gly2017Asp)
c.6047G>A (p.Gly2016Asp)
n.6153G>A
n.6094G>A
n.6139G>A
 gnomAD v4
11g.77211174G>CCA381935543MYO7Ac.6074G>C (p.Gly2025Ala)
c.3875G>C
c.5927G>C (p.Gly1976Ala)
c.3500G>C (p.Gly1167Ala)
c.5960G>C (p.Gly1987Ala)
n.3610G>C
n.25+263G>C
n.1541G>C
c.5957G>C (p.Gly1986Ala)
c.6065G>C (p.Gly2022Ala)
c.6068G>C (p.Gly2023Ala)
c.6041G>C (p.Gly2014Ala)
c.5978G>C (p.Gly1993Ala)
c.5849G>C (p.Gly1950Ala)
c.5837G>C (p.Gly1946Ala)
c.5810G>C (p.Gly1937Ala)
n.6394G>C
n.6368G>C
c.6164G>C (p.Gly2055Ala)
c.6158G>C (p.Gly2053Ala)
c.6155G>C (p.Gly2052Ala)
c.6050G>C (p.Gly2017Ala)
c.6047G>C (p.Gly2016Ala)
n.6153G>C
n.6094G>C
n.6139G>C
11g.77211174G>TCA381935545MYO7Ac.6074G>T (p.Gly2025Val)
c.3875G>T
c.5927G>T (p.Gly1976Val)
c.3500G>T (p.Gly1167Val)
c.5960G>T (p.Gly1987Val)
n.3610G>T
n.25+263G>T
n.1541G>T
c.5957G>T (p.Gly1986Val)
c.6065G>T (p.Gly2022Val)
c.6068G>T (p.Gly2023Val)
c.6041G>T (p.Gly2014Val)
c.5978G>T (p.Gly1993Val)
c.5849G>T (p.Gly1950Val)
c.5837G>T (p.Gly1946Val)
c.5810G>T (p.Gly1937Val)
n.6394G>T
n.6368G>T
c.6164G>T (p.Gly2055Val)
c.6158G>T (p.Gly2053Val)
c.6155G>T (p.Gly2052Val)
c.6050G>T (p.Gly2017Val)
c.6047G>T (p.Gly2016Val)
n.6153G>T
n.6094G>T
n.6139G>T
 gnomAD v4
11g.77211175C>ACA475791889MYO7Ac.6075C>A (p.Gly2025=)
c.3876C>A
c.5928C>A (p.Gly1976=)
c.3501C>A (p.Gly1167=)
c.5961C>A (p.Gly1987=)
n.3611C>A
n.25+264C>A
n.1542C>A
c.5958C>A (p.Gly1986=)
c.6066C>A (p.Gly2022=)
c.6069C>A (p.Gly2023=)
c.6042C>A (p.Gly2014=)
c.5979C>A (p.Gly1993=)
c.5850C>A (p.Gly1950=)
c.5838C>A (p.Gly1946=)
c.5811C>A (p.Gly1937=)
n.6395C>A
n.6369C>A
c.6165C>A (p.Gly2055=)
c.6159C>A (p.Gly2053=)
c.6156C>A (p.Gly2052=)
c.6051C>A (p.Gly2017=)
c.6048C>A (p.Gly2016=)
n.6154C>A
n.6095C>A
n.6140C>A
 gnomAD v4
11g.77211175C>GCA475791888MYO7Ac.6075C>G (p.Gly2025=)
c.3876C>G
c.5928C>G (p.Gly1976=)
c.3501C>G (p.Gly1167=)
c.5961C>G (p.Gly1987=)
n.3611C>G
n.25+264C>G
n.1542C>G
c.5958C>G (p.Gly1986=)
c.6066C>G (p.Gly2022=)
c.6069C>G (p.Gly2023=)
c.6042C>G (p.Gly2014=)
c.5979C>G (p.Gly1993=)
c.5850C>G (p.Gly1950=)
c.5838C>G (p.Gly1946=)
c.5811C>G (p.Gly1937=)
n.6395C>G
n.6369C>G
c.6165C>G (p.Gly2055=)
c.6159C>G (p.Gly2053=)
c.6156C>G (p.Gly2052=)
c.6051C>G (p.Gly2017=)
c.6048C>G (p.Gly2016=)
n.6154C>G
n.6095C>G
n.6140C>G
11g.77211175C>TCA475791887MYO7Ac.6075C>T (p.Gly2025=)
c.3876C>T
c.5928C>T (p.Gly1976=)
c.3501C>T (p.Gly1167=)
c.5961C>T (p.Gly1987=)
n.3611C>T
n.25+264C>T
n.1542C>T
c.5958C>T (p.Gly1986=)
c.6066C>T (p.Gly2022=)
c.6069C>T (p.Gly2023=)
c.6042C>T (p.Gly2014=)
c.5979C>T (p.Gly1993=)
c.5850C>T (p.Gly1950=)
c.5838C>T (p.Gly1946=)
c.5811C>T (p.Gly1937=)
n.6395C>T
n.6369C>T
c.6165C>T (p.Gly2055=)
c.6159C>T (p.Gly2053=)
c.6156C>T (p.Gly2052=)
c.6051C>T (p.Gly2017=)
c.6048C>T (p.Gly2016=)
n.6154C>T
n.6095C>T
n.6140C>T
 ClinVar
11g.77211176T>ACA381935553MYO7Ac.6076T>A (p.Tyr2026Asn)
c.3877T>A
c.5929T>A (p.Tyr1977Asn)
c.3502T>A (p.Tyr1168Asn)
c.5962T>A (p.Tyr1988Asn)
n.3612T>A
n.25+265T>A
n.1543T>A
c.5959T>A (p.Tyr1987Asn)
c.6067T>A (p.Tyr2023Asn)
c.6070T>A (p.Tyr2024Asn)
c.6043T>A (p.Tyr2015Asn)
c.5980T>A (p.Tyr1994Asn)
c.5851T>A (p.Tyr1951Asn)
c.5839T>A (p.Tyr1947Asn)
c.5812T>A (p.Tyr1938Asn)
n.6396T>A
n.6370T>A
c.6166T>A (p.Tyr2056Asn)
c.6160T>A (p.Tyr2054Asn)
c.6157T>A (p.Tyr2053Asn)
c.6052T>A (p.Tyr2018Asn)
c.6049T>A (p.Tyr2017Asn)
n.6155T>A
n.6096T>A
n.6141T>A
11g.77211176T>CCA381935551MYO7Ac.6076T>C (p.Tyr2026His)
c.3877T>C
c.5929T>C (p.Tyr1977His)
c.3502T>C (p.Tyr1168His)
c.5962T>C (p.Tyr1988His)
n.3612T>C
n.25+265T>C
n.1543T>C
c.5959T>C (p.Tyr1987His)
c.6067T>C (p.Tyr2023His)
c.6070T>C (p.Tyr2024His)
c.6043T>C (p.Tyr2015His)
c.5980T>C (p.Tyr1994His)
c.5851T>C (p.Tyr1951His)
c.5839T>C (p.Tyr1947His)
c.5812T>C (p.Tyr1938His)
n.6396T>C
n.6370T>C
c.6166T>C (p.Tyr2056His)
c.6160T>C (p.Tyr2054His)
c.6157T>C (p.Tyr2053His)
c.6052T>C (p.Tyr2018His)
c.6049T>C (p.Tyr2017His)
n.6155T>C
n.6096T>C
n.6141T>C
 gnomAD v4
11g.77211176T>GCA381935548MYO7Ac.6076T>G (p.Tyr2026Asp)
c.3877T>G
c.5929T>G (p.Tyr1977Asp)
c.3502T>G (p.Tyr1168Asp)
c.5962T>G (p.Tyr1988Asp)
n.3612T>G
n.25+265T>G
n.1543T>G
c.5959T>G (p.Tyr1987Asp)
c.6067T>G (p.Tyr2023Asp)
c.6070T>G (p.Tyr2024Asp)
c.6043T>G (p.Tyr2015Asp)
c.5980T>G (p.Tyr1994Asp)
c.5851T>G (p.Tyr1951Asp)
c.5839T>G (p.Tyr1947Asp)
c.5812T>G (p.Tyr1938Asp)
n.6396T>G
n.6370T>G
c.6166T>G (p.Tyr2056Asp)
c.6160T>G (p.Tyr2054Asp)
c.6157T>G (p.Tyr2053Asp)
c.6052T>G (p.Tyr2018Asp)
c.6049T>G (p.Tyr2017Asp)
n.6155T>G
n.6096T>G
n.6141T>G
11g.77211176_77211179delinsTACCCA1984129834MYO7Ac.6076_6079delinsTACC (p.Tyr2026=)
c.3877_3880delinsTACC
c.5929_5932delinsTACC (p.Tyr1977=)
c.3502_3505delinsTACC (p.Tyr1168=)
c.5962_5965delinsTACC (p.Tyr1988=)
n.3612_3615delinsTACC
n.25+265_25+268delinsTACC
n.1543_1546delinsTACC
c.5959_5962delinsTACC (p.Tyr1987=)
c.6067_6070delinsTACC (p.Tyr2023=)
c.6070_6073delinsTACC (p.Tyr2024=)
c.6043_6046delinsTACC (p.Tyr2015=)
c.5980_5983delinsTACC (p.Tyr1994=)
c.5851_5854delinsTACC (p.Tyr1951=)
c.5839_5842delinsTACC (p.Tyr1947=)
c.5812_5815delinsTACC (p.Tyr1938=)
n.6396_6399delinsTACC
n.6370_6373delinsTACC
c.6166_6169delinsTACC (p.Tyr2056=)
c.6160_6163delinsTACC (p.Tyr2054=)
c.6157_6160delinsTACC (p.Tyr2053=)
c.6052_6055delinsTACC (p.Tyr2018=)
c.6049_6052delinsTACC (p.Tyr2017=)
n.6155_6158delinsTACC
n.6096_6099delinsTACC
n.6141_6144delinsTACC
11g.77211177A>CCA381935556MYO7Ac.6077A>C (p.Tyr2026Ser)
c.3878A>C
c.5930A>C (p.Tyr1977Ser)
c.3503A>C (p.Tyr1168Ser)
c.5963A>C (p.Tyr1988Ser)
n.3613A>C
n.25+266A>C
n.1544A>C
c.5960A>C (p.Tyr1987Ser)
c.6068A>C (p.Tyr2023Ser)
c.6071A>C (p.Tyr2024Ser)
c.6044A>C (p.Tyr2015Ser)
c.5981A>C (p.Tyr1994Ser)
c.5852A>C (p.Tyr1951Ser)
c.5840A>C (p.Tyr1947Ser)
c.5813A>C (p.Tyr1938Ser)
n.6397A>C
n.6371A>C
c.6167A>C (p.Tyr2056Ser)
c.6161A>C (p.Tyr2054Ser)
c.6158A>C (p.Tyr2053Ser)
c.6053A>C (p.Tyr2018Ser)
c.6050A>C (p.Tyr2017Ser)
n.6156A>C
n.6097A>C
n.6142A>C
11g.77211177A>GCA381935559MYO7Ac.6077A>G (p.Tyr2026Cys)
c.3878A>G
c.5930A>G (p.Tyr1977Cys)
c.3503A>G (p.Tyr1168Cys)
c.5963A>G (p.Tyr1988Cys)
n.3613A>G
n.25+266A>G
n.1544A>G
c.5960A>G (p.Tyr1987Cys)
c.6068A>G (p.Tyr2023Cys)
c.6071A>G (p.Tyr2024Cys)
c.6044A>G (p.Tyr2015Cys)
c.5981A>G (p.Tyr1994Cys)
c.5852A>G (p.Tyr1951Cys)
c.5840A>G (p.Tyr1947Cys)
c.5813A>G (p.Tyr1938Cys)
n.6397A>G
n.6371A>G
c.6167A>G (p.Tyr2056Cys)
c.6161A>G (p.Tyr2054Cys)
c.6158A>G (p.Tyr2053Cys)
c.6053A>G (p.Tyr2018Cys)
c.6050A>G (p.Tyr2017Cys)
n.6156A>G
n.6097A>G
n.6142A>G
11g.77211177A>TCA381935561MYO7Ac.6077A>T (p.Tyr2026Phe)
c.3878A>T
c.5930A>T (p.Tyr1977Phe)
c.3503A>T (p.Tyr1168Phe)
c.5963A>T (p.Tyr1988Phe)
n.3613A>T
n.25+266A>T
n.1544A>T
c.5960A>T (p.Tyr1987Phe)
c.6068A>T (p.Tyr2023Phe)
c.6071A>T (p.Tyr2024Phe)
c.6044A>T (p.Tyr2015Phe)
c.5981A>T (p.Tyr1994Phe)
c.5852A>T (p.Tyr1951Phe)
c.5840A>T (p.Tyr1947Phe)
c.5813A>T (p.Tyr1938Phe)
n.6397A>T
n.6371A>T
c.6167A>T (p.Tyr2056Phe)
c.6161A>T (p.Tyr2054Phe)
c.6158A>T (p.Tyr2053Phe)
c.6053A>T (p.Tyr2018Phe)
c.6050A>T (p.Tyr2017Phe)
n.6156A>T
n.6097A>T
n.6142A>T
 gnomAD v4
11g.77211179_77211181delCA1984129835MYO7Ac.6079_6081del (p.His2027del)
c.3880_3882del
c.5932_5934del (p.His1978del)
c.3505_3507del (p.His1169del)
c.5965_5967del (p.His1989del)
n.3615_3617del
n.25+268_25+270del
n.1546_1548del
c.5962_5964del (p.His1988del)
c.6070_6072del (p.His2024del)
c.6073_6075del (p.His2025del)
c.6046_6048del (p.His2016del)
c.5983_5985del (p.His1995del)
c.5854_5856del (p.His1952del)
c.5842_5844del (p.His1948del)
c.5815_5817del (p.His1939del)
n.6399_6401del
n.6373_6375del
c.6169_6171del (p.His2057del)
c.6163_6165del (p.His2055del)
c.6160_6162del (p.His2054del)
c.6055_6057del (p.His2019del)
c.6052_6054del (p.His2018del)
n.6158_6160del
n.6099_6101del
n.6144_6146del
 ClinVar dbSNP gnomAD v4
11g.77211178C>ACA381935564MYO7Ac.6078C>A (p.Tyr2026Ter)
c.3879C>A
c.5931C>A (p.Tyr1977Ter)
c.3504C>A (p.Tyr1168Ter)
c.5964C>A (p.Tyr1988Ter)
n.3614C>A
n.25+267C>A
n.1545C>A
c.5961C>A (p.Tyr1987Ter)
c.6069C>A (p.Tyr2023Ter)
c.6072C>A (p.Tyr2024Ter)
c.6045C>A (p.Tyr2015Ter)
c.5982C>A (p.Tyr1994Ter)
c.5853C>A (p.Tyr1951Ter)
c.5841C>A (p.Tyr1947Ter)
c.5814C>A (p.Tyr1938Ter)
n.6398C>A
n.6372C>A
c.6168C>A (p.Tyr2056Ter)
c.6162C>A (p.Tyr2054Ter)
c.6159C>A (p.Tyr2053Ter)
c.6054C>A (p.Tyr2018Ter)
c.6051C>A (p.Tyr2017Ter)
n.6157C>A
n.6098C>A
n.6143C>A
 gnomAD v4
11g.77211178C>GCA381935565MYO7Ac.6078C>G (p.Tyr2026Ter)
c.3879C>G
c.5931C>G (p.Tyr1977Ter)
c.3504C>G (p.Tyr1168Ter)
c.5964C>G (p.Tyr1988Ter)
n.3614C>G
n.25+267C>G
n.1545C>G
c.5961C>G (p.Tyr1987Ter)
c.6069C>G (p.Tyr2023Ter)
c.6072C>G (p.Tyr2024Ter)
c.6045C>G (p.Tyr2015Ter)
c.5982C>G (p.Tyr1994Ter)
c.5853C>G (p.Tyr1951Ter)
c.5841C>G (p.Tyr1947Ter)
c.5814C>G (p.Tyr1938Ter)
n.6398C>G
n.6372C>G
c.6168C>G (p.Tyr2056Ter)
c.6162C>G (p.Tyr2054Ter)
c.6159C>G (p.Tyr2053Ter)
c.6054C>G (p.Tyr2018Ter)
c.6051C>G (p.Tyr2017Ter)
n.6157C>G
n.6098C>G
n.6143C>G
11g.77211178C>TCA475791892MYO7Ac.6078C>T (p.Tyr2026=)
c.3879C>T
c.5931C>T (p.Tyr1977=)
c.3504C>T (p.Tyr1168=)
c.5964C>T (p.Tyr1988=)
n.3614C>T
n.25+267C>T
n.1545C>T
c.5961C>T (p.Tyr1987=)
c.6069C>T (p.Tyr2023=)
c.6072C>T (p.Tyr2024=)
c.6045C>T (p.Tyr2015=)
c.5982C>T (p.Tyr1994=)
c.5853C>T (p.Tyr1951=)
c.5841C>T (p.Tyr1947=)
c.5814C>T (p.Tyr1938=)
n.6398C>T
n.6372C>T
c.6168C>T (p.Tyr2056=)
c.6162C>T (p.Tyr2054=)
c.6159C>T (p.Tyr2053=)
c.6054C>T (p.Tyr2018=)
c.6051C>T (p.Tyr2017=)
n.6157C>T
n.6098C>T
n.6143C>T
 gnomAD v4
11g.77211179C>ACA381935569MYO7Ac.6079C>A (p.His2027Asn)
c.3880C>A
c.5932C>A (p.His1978Asn)
c.3505C>A (p.His1169Asn)
c.5965C>A (p.His1989Asn)
n.3615C>A
n.25+268C>A
n.1546C>A
c.5962C>A (p.His1988Asn)
c.6070C>A (p.His2024Asn)
c.6073C>A (p.His2025Asn)
c.6046C>A (p.His2016Asn)
c.5983C>A (p.His1995Asn)
c.5854C>A (p.His1952Asn)
c.5842C>A (p.His1948Asn)
c.5815C>A (p.His1939Asn)
n.6399C>A
n.6373C>A
c.6169C>A (p.His2057Asn)
c.6163C>A (p.His2055Asn)
c.6160C>A (p.His2054Asn)
c.6055C>A (p.His2019Asn)
c.6052C>A (p.His2018Asn)
n.6158C>A
n.6099C>A
n.6144C>A
 gnomAD v4
11g.77211179C>GCA381935571MYO7Ac.6079C>G (p.His2027Asp)
c.3880C>G
c.5932C>G (p.His1978Asp)
c.3505C>G (p.His1169Asp)
c.5965C>G (p.His1989Asp)
n.3615C>G
n.25+268C>G
n.1546C>G
c.5962C>G (p.His1988Asp)
c.6070C>G (p.His2024Asp)
c.6073C>G (p.His2025Asp)
c.6046C>G (p.His2016Asp)
c.5983C>G (p.His1995Asp)
c.5854C>G (p.His1952Asp)
c.5842C>G (p.His1948Asp)
c.5815C>G (p.His1939Asp)
n.6399C>G
n.6373C>G
c.6169C>G (p.His2057Asp)
c.6163C>G (p.His2055Asp)
c.6160C>G (p.His2054Asp)
c.6055C>G (p.His2019Asp)
c.6052C>G (p.His2018Asp)
n.6158C>G
n.6099C>G
n.6144C>G
11g.77211179C>TCA381935574MYO7Ac.6079C>T (p.His2027Tyr)
c.3880C>T
c.5932C>T (p.His1978Tyr)
c.3505C>T (p.His1169Tyr)
c.5965C>T (p.His1989Tyr)
n.3615C>T
n.25+268C>T
n.1546C>T
c.5962C>T (p.His1988Tyr)
c.6070C>T (p.His2024Tyr)
c.6073C>T (p.His2025Tyr)
c.6046C>T (p.His2016Tyr)
c.5983C>T (p.His1995Tyr)
c.5854C>T (p.His1952Tyr)
c.5842C>T (p.His1948Tyr)
c.5815C>T (p.His1939Tyr)
n.6399C>T
n.6373C>T
c.6169C>T (p.His2057Tyr)
c.6163C>T (p.His2055Tyr)
c.6160C>T (p.His2054Tyr)
c.6055C>T (p.His2019Tyr)
c.6052C>T (p.His2018Tyr)
n.6158C>T
n.6099C>T
n.6144C>T
 gnomAD v4 COSMIC
11g.77211180A=CA1984129836MYO7Ac.6080A= (p.His2027=)
c.3881A=
c.5933A= (p.His1978=)
c.3506A= (p.His1169=)
c.5966A= (p.His1989=)
n.3616A=
n.25+269A=
n.1547A=
c.5963A= (p.His1988=)
c.6071A= (p.His2024=)
c.6074A= (p.His2025=)
c.6047A= (p.His2016=)
c.5984A= (p.His1995=)
c.5855A= (p.His1952=)
c.5843A= (p.His1948=)
c.5816A= (p.His1939=)
n.6400A=
n.6374A=
c.6170A= (p.His2057=)
c.6164A= (p.His2055=)
c.6161A= (p.His2054=)
c.6056A= (p.His2019=)
c.6053A= (p.His2018=)
n.6159A=
n.6100A=
n.6145A=
11g.77211180A>CCA381935577MYO7Ac.6080A>C (p.His2027Pro)
c.3881A>C
c.5933A>C (p.His1978Pro)
c.3506A>C (p.His1169Pro)
c.5966A>C (p.His1989Pro)
n.3616A>C
n.25+269A>C
n.1547A>C
c.5963A>C (p.His1988Pro)
c.6071A>C (p.His2024Pro)
c.6074A>C (p.His2025Pro)
c.6047A>C (p.His2016Pro)
c.5984A>C (p.His1995Pro)
c.5855A>C (p.His1952Pro)
c.5843A>C (p.His1948Pro)
c.5816A>C (p.His1939Pro)
n.6400A>C
n.6374A>C
c.6170A>C (p.His2057Pro)
c.6164A>C (p.His2055Pro)
c.6161A>C (p.His2054Pro)
c.6056A>C (p.His2019Pro)
c.6053A>C (p.His2018Pro)
n.6159A>C
n.6100A>C
n.6145A>C
 dbSNP
11g.77211180A>GCA6198931MYO7Ac.6080A>G (p.His2027Arg)
c.3881A>G
c.5933A>G (p.His1978Arg)
c.3506A>G (p.His1169Arg)
c.5966A>G (p.His1989Arg)
n.3616A>G
n.25+269A>G
n.1547A>G
c.5963A>G (p.His1988Arg)
c.6071A>G (p.His2024Arg)
c.6074A>G (p.His2025Arg)
c.6047A>G (p.His2016Arg)
c.5984A>G (p.His1995Arg)
c.5855A>G (p.His1952Arg)
c.5843A>G (p.His1948Arg)
c.5816A>G (p.His1939Arg)
n.6400A>G
n.6374A>G
c.6170A>G (p.His2057Arg)
c.6164A>G (p.His2055Arg)
c.6161A>G (p.His2054Arg)
c.6056A>G (p.His2019Arg)
c.6053A>G (p.His2018Arg)
n.6159A>G
n.6100A>G
n.6145A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77211180A>TCA381935580MYO7Ac.6080A>T (p.His2027Leu)
c.3881A>T
c.5933A>T (p.His1978Leu)
c.3506A>T (p.His1169Leu)
c.5966A>T (p.His1989Leu)
n.3616A>T
n.25+269A>T
n.1547A>T
c.5963A>T (p.His1988Leu)
c.6071A>T (p.His2024Leu)
c.6074A>T (p.His2025Leu)
c.6047A>T (p.His2016Leu)
c.5984A>T (p.His1995Leu)
c.5855A>T (p.His1952Leu)
c.5843A>T (p.His1948Leu)
c.5816A>T (p.His1939Leu)
n.6400A>T
n.6374A>T
c.6170A>T (p.His2057Leu)
c.6164A>T (p.His2055Leu)
c.6161A>T (p.His2054Leu)
c.6056A>T (p.His2019Leu)
c.6053A>T (p.His2018Leu)
n.6159A>T
n.6100A>T
n.6145A>T
 gnomAD v4
11g.77211181C>ACA6198932MYO7Ac.6081C>A (p.His2027Gln)
c.3882C>A
c.5934C>A (p.His1978Gln)
c.3507C>A (p.His1169Gln)
c.5967C>A (p.His1989Gln)
n.3617C>A
n.25+270C>A
n.1548C>A
c.5964C>A (p.His1988Gln)
c.6072C>A (p.His2024Gln)
c.6075C>A (p.His2025Gln)
c.6048C>A (p.His2016Gln)
c.5985C>A (p.His1995Gln)
c.5856C>A (p.His1952Gln)
c.5844C>A (p.His1948Gln)
c.5817C>A (p.His1939Gln)
n.6401C>A
n.6375C>A
c.6171C>A (p.His2057Gln)
c.6165C>A (p.His2055Gln)
c.6162C>A (p.His2054Gln)
c.6057C>A (p.His2019Gln)
c.6054C>A (p.His2018Gln)
n.6160C>A
n.6101C>A
n.6146C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.77211181C=CA1984129837MYO7Ac.6081C= (p.His2027=)
c.3882C=
c.5934C= (p.His1978=)
c.3507C= (p.His1169=)
c.5967C= (p.His1989=)
n.3617C=
n.25+270C=
n.1548C=
c.5964C= (p.His1988=)
c.6072C= (p.His2024=)
c.6075C= (p.His2025=)
c.6048C= (p.His2016=)
c.5985C= (p.His1995=)
c.5856C= (p.His1952=)
c.5844C= (p.His1948=)
c.5817C= (p.His1939=)
n.6401C=
n.6375C=
c.6171C= (p.His2057=)
c.6165C= (p.His2055=)
c.6162C= (p.His2054=)
c.6057C= (p.His2019=)
c.6054C= (p.His2018=)
n.6160C=
n.6101C=
n.6146C=
11g.77211181C>GCA381935585MYO7Ac.6081C>G (p.His2027Gln)
c.3882C>G
c.5934C>G (p.His1978Gln)
c.3507C>G (p.His1169Gln)
c.5967C>G (p.His1989Gln)
n.3617C>G
n.25+270C>G
n.1548C>G
c.5964C>G (p.His1988Gln)
c.6072C>G (p.His2024Gln)
c.6075C>G (p.His2025Gln)
c.6048C>G (p.His2016Gln)
c.5985C>G (p.His1995Gln)
c.5856C>G (p.His1952Gln)
c.5844C>G (p.His1948Gln)
c.5817C>G (p.His1939Gln)
n.6401C>G
n.6375C>G
c.6171C>G (p.His2057Gln)
c.6165C>G (p.His2055Gln)
c.6162C>G (p.His2054Gln)
c.6057C>G (p.His2019Gln)
c.6054C>G (p.His2018Gln)
n.6160C>G
n.6101C>G
n.6146C>G
11g.77211181C>TCA475791898MYO7Ac.6081C>T (p.His2027=)
c.3882C>T
c.5934C>T (p.His1978=)
c.3507C>T (p.His1169=)
c.5967C>T (p.His1989=)
n.3617C>T
n.25+270C>T
n.1548C>T
c.5964C>T (p.His1988=)
c.6072C>T (p.His2024=)
c.6075C>T (p.His2025=)
c.6048C>T (p.His2016=)
c.5985C>T (p.His1995=)
c.5856C>T (p.His1952=)
c.5844C>T (p.His1948=)
c.5817C>T (p.His1939=)
n.6401C>T
n.6375C>T
c.6171C>T (p.His2057=)
c.6165C>T (p.His2055=)
c.6162C>T (p.His2054=)
c.6057C>T (p.His2019=)
c.6054C>T (p.His2018=)
n.6160C>T
n.6101C>T
n.6146C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.77211182A>CCA381935590MYO7Ac.6082A>C (p.Lys2028Gln)
c.3883A>C
c.5935A>C (p.Lys1979Gln)
c.3508A>C (p.Lys1170Gln)
c.5968A>C (p.Lys1990Gln)
n.3618A>C
n.25+271A>C
n.1549A>C
c.5965A>C (p.Lys1989Gln)
c.6073A>C (p.Lys2025Gln)
c.6076A>C (p.Lys2026Gln)
c.6049A>C (p.Lys2017Gln)
c.5986A>C (p.Lys1996Gln)
c.5857A>C (p.Lys1953Gln)
c.5845A>C (p.Lys1949Gln)
c.5818A>C (p.Lys1940Gln)
n.6402A>C
n.6376A>C
c.6172A>C (p.Lys2058Gln)
c.6166A>C (p.Lys2056Gln)
c.6163A>C (p.Lys2055Gln)
c.6058A>C (p.Lys2020Gln)
c.6055A>C (p.Lys2019Gln)
n.6161A>C
n.6102A>C
n.6147A>C
 gnomAD v4
11g.77211182A>GCA381935592MYO7Ac.6082A>G (p.Lys2028Glu)
c.3883A>G
c.5935A>G (p.Lys1979Glu)
c.3508A>G (p.Lys1170Glu)
c.5968A>G (p.Lys1990Glu)
n.3618A>G
n.25+271A>G
n.1549A>G
c.5965A>G (p.Lys1989Glu)
c.6073A>G (p.Lys2025Glu)
c.6076A>G (p.Lys2026Glu)
c.6049A>G (p.Lys2017Glu)
c.5986A>G (p.Lys1996Glu)
c.5857A>G (p.Lys1953Glu)
c.5845A>G (p.Lys1949Glu)
c.5818A>G (p.Lys1940Glu)
n.6402A>G
n.6376A>G
c.6172A>G (p.Lys2058Glu)
c.6166A>G (p.Lys2056Glu)
c.6163A>G (p.Lys2055Glu)
c.6058A>G (p.Lys2020Glu)
c.6055A>G (p.Lys2019Glu)
n.6161A>G
n.6102A>G
n.6147A>G
 gnomAD v4
11g.77211182A>TCA381935588MYO7Ac.6082A>T (p.Lys2028Ter)
c.3883A>T
c.5935A>T (p.Lys1979Ter)
c.3508A>T (p.Lys1170Ter)
c.5968A>T (p.Lys1990Ter)
n.3618A>T
n.25+271A>T
n.1549A>T
c.5965A>T (p.Lys1989Ter)
c.6073A>T (p.Lys2025Ter)
c.6076A>T (p.Lys2026Ter)
c.6049A>T (p.Lys2017Ter)
c.5986A>T (p.Lys1996Ter)
c.5857A>T (p.Lys1953Ter)
c.5845A>T (p.Lys1949Ter)
c.5818A>T (p.Lys1940Ter)
n.6402A>T
n.6376A>T
c.6172A>T (p.Lys2058Ter)
c.6166A>T (p.Lys2056Ter)
c.6163A>T (p.Lys2055Ter)
c.6058A>T (p.Lys2020Ter)
c.6055A>T (p.Lys2019Ter)
n.6161A>T
n.6102A>T
n.6147A>T
 ClinVar gnomAD v4
11g.77211183A=CA1984129838MYO7Ac.6083A= (p.Lys2028=)
c.3884A=
c.5936A= (p.Lys1979=)
c.3509A= (p.Lys1170=)
c.5969A= (p.Lys1990=)
n.3619A=
n.25+272A=
n.1550A=
c.5966A= (p.Lys1989=)
c.6074A= (p.Lys2025=)
c.6077A= (p.Lys2026=)
c.6050A= (p.Lys2017=)
c.5987A= (p.Lys1996=)
c.5858A= (p.Lys1953=)
c.5846A= (p.Lys1949=)
c.5819A= (p.Lys1940=)
n.6403A=
n.6377A=
c.6173A= (p.Lys2058=)
c.6167A= (p.Lys2056=)
c.6164A= (p.Lys2055=)
c.6059A= (p.Lys2020=)
c.6056A= (p.Lys2019=)
n.6162A=
n.6103A=
n.6148A=
11g.77211183A>CCA381935597MYO7Ac.6083A>C (p.Lys2028Thr)
c.3884A>C
c.5936A>C (p.Lys1979Thr)
c.3509A>C (p.Lys1170Thr)
c.5969A>C (p.Lys1990Thr)
n.3619A>C
n.25+272A>C
n.1550A>C
c.5966A>C (p.Lys1989Thr)
c.6074A>C (p.Lys2025Thr)
c.6077A>C (p.Lys2026Thr)
c.6050A>C (p.Lys2017Thr)
c.5987A>C (p.Lys1996Thr)
c.5858A>C (p.Lys1953Thr)
c.5846A>C (p.Lys1949Thr)
c.5819A>C (p.Lys1940Thr)
n.6403A>C
n.6377A>C
c.6173A>C (p.Lys2058Thr)
c.6167A>C (p.Lys2056Thr)
c.6164A>C (p.Lys2055Thr)
c.6059A>C (p.Lys2020Thr)
c.6056A>C (p.Lys2019Thr)
n.6162A>C
n.6103A>C
n.6148A>C
 ClinVar dbSNP
11g.77211183A>GCA381935594MYO7Ac.6083A>G (p.Lys2028Arg)
c.3884A>G
c.5936A>G (p.Lys1979Arg)
c.3509A>G (p.Lys1170Arg)
c.5969A>G (p.Lys1990Arg)
n.3619A>G
n.25+272A>G
n.1550A>G
c.5966A>G (p.Lys1989Arg)
c.6074A>G (p.Lys2025Arg)
c.6077A>G (p.Lys2026Arg)
c.6050A>G (p.Lys2017Arg)
c.5987A>G (p.Lys1996Arg)
c.5858A>G (p.Lys1953Arg)
c.5846A>G (p.Lys1949Arg)
c.5819A>G (p.Lys1940Arg)
n.6403A>G
n.6377A>G
c.6173A>G (p.Lys2058Arg)
c.6167A>G (p.Lys2056Arg)
c.6164A>G (p.Lys2055Arg)
c.6059A>G (p.Lys2020Arg)
c.6056A>G (p.Lys2019Arg)
n.6162A>G
n.6103A>G
n.6148A>G
11g.77211183A>TCA381935600MYO7Ac.6083A>T (p.Lys2028Met)
c.3884A>T
c.5936A>T (p.Lys1979Met)
c.3509A>T (p.Lys1170Met)
c.5969A>T (p.Lys1990Met)
n.3619A>T
n.25+272A>T
n.1550A>T
c.5966A>T (p.Lys1989Met)
c.6074A>T (p.Lys2025Met)
c.6077A>T (p.Lys2026Met)
c.6050A>T (p.Lys2017Met)
c.5987A>T (p.Lys1996Met)
c.5858A>T (p.Lys1953Met)
c.5846A>T (p.Lys1949Met)
c.5819A>T (p.Lys1940Met)
n.6403A>T
n.6377A>T
c.6173A>T (p.Lys2058Met)
c.6167A>T (p.Lys2056Met)
c.6164A>T (p.Lys2055Met)
c.6059A>T (p.Lys2020Met)
c.6056A>T (p.Lys2019Met)
n.6162A>T
n.6103A>T
n.6148A>T
 dbSNP
11g.77211184G>ACA475791900MYO7Ac.6084G>A (p.Lys2028=)
c.3885G>A
c.5937G>A (p.Lys1979=)
c.3510G>A (p.Lys1170=)
c.5970G>A (p.Lys1990=)
n.3620G>A
n.25+273G>A
n.1551G>A
c.5967G>A (p.Lys1989=)
c.6075G>A (p.Lys2025=)
c.6078G>A (p.Lys2026=)
c.6051G>A (p.Lys2017=)
c.5988G>A (p.Lys1996=)
c.5859G>A (p.Lys1953=)
c.5847G>A (p.Lys1949=)
c.5820G>A (p.Lys1940=)
n.6404G>A
n.6378G>A
c.6174G>A (p.Lys2058=)
c.6168G>A (p.Lys2056=)
c.6165G>A (p.Lys2055=)
c.6060G>A (p.Lys2020=)
c.6057G>A (p.Lys2019=)
n.6163G>A
n.6104G>A
n.6149G>A
 gnomAD v4
11g.77211184G>CCA381935602MYO7Ac.6084G>C (p.Lys2028Asn)
c.3885G>C
c.5937G>C (p.Lys1979Asn)
c.3510G>C (p.Lys1170Asn)
c.5970G>C (p.Lys1990Asn)
n.3620G>C
n.25+273G>C
n.1551G>C
c.5967G>C (p.Lys1989Asn)
c.6075G>C (p.Lys2025Asn)
c.6078G>C (p.Lys2026Asn)
c.6051G>C (p.Lys2017Asn)
c.5988G>C (p.Lys1996Asn)
c.5859G>C (p.Lys1953Asn)
c.5847G>C (p.Lys1949Asn)
c.5820G>C (p.Lys1940Asn)
n.6404G>C
n.6378G>C
c.6174G>C (p.Lys2058Asn)
c.6168G>C (p.Lys2056Asn)
c.6165G>C (p.Lys2055Asn)
c.6060G>C (p.Lys2020Asn)
c.6057G>C (p.Lys2019Asn)
n.6163G>C
n.6104G>C
n.6149G>C
11g.77211184G>TCA381935604MYO7Ac.6084G>T (p.Lys2028Asn)
c.3885G>T
c.5937G>T (p.Lys1979Asn)
c.3510G>T (p.Lys1170Asn)
c.5970G>T (p.Lys1990Asn)
n.3620G>T
n.25+273G>T
n.1551G>T
c.5967G>T (p.Lys1989Asn)
c.6075G>T (p.Lys2025Asn)
c.6078G>T (p.Lys2026Asn)
c.6051G>T (p.Lys2017Asn)
c.5988G>T (p.Lys1996Asn)
c.5859G>T (p.Lys1953Asn)
c.5847G>T (p.Lys1949Asn)
c.5820G>T (p.Lys1940Asn)
n.6404G>T
n.6378G>T
c.6174G>T (p.Lys2058Asn)
c.6168G>T (p.Lys2056Asn)
c.6165G>T (p.Lys2055Asn)
c.6060G>T (p.Lys2020Asn)
c.6057G>T (p.Lys2019Asn)
n.6163G>T
n.6104G>T
n.6149G>T
 gnomAD v4
11g.77211185T>ACA381935607MYO7Ac.6085T>A (p.Cys2029Ser)
c.3886T>A
c.5938T>A (p.Cys1980Ser)
c.3511T>A (p.Cys1171Ser)
c.5971T>A (p.Cys1991Ser)
n.3621T>A
n.25+274T>A
n.1552T>A
c.5968T>A (p.Cys1990Ser)
c.6076T>A (p.Cys2026Ser)
c.6079T>A (p.Cys2027Ser)
c.6052T>A (p.Cys2018Ser)
c.5989T>A (p.Cys1997Ser)
c.5860T>A (p.Cys1954Ser)
c.5848T>A (p.Cys1950Ser)
c.5821T>A (p.Cys1941Ser)
n.6405T>A
n.6379T>A
c.6175T>A (p.Cys2059Ser)
c.6169T>A (p.Cys2057Ser)
c.6166T>A (p.Cys2056Ser)
c.6061T>A (p.Cys2021Ser)
c.6058T>A (p.Cys2020Ser)
n.6164T>A
n.6105T>A
n.6150T>A
11g.77211185T>CCA381935609MYO7Ac.6085T>C (p.Cys2029Arg)
c.3886T>C
c.5938T>C (p.Cys1980Arg)
c.3511T>C (p.Cys1171Arg)
c.5971T>C (p.Cys1991Arg)
n.3621T>C
n.25+274T>C
n.1552T>C
c.5968T>C (p.Cys1990Arg)
c.6076T>C (p.Cys2026Arg)
c.6079T>C (p.Cys2027Arg)
c.6052T>C (p.Cys2018Arg)
c.5989T>C (p.Cys1997Arg)
c.5860T>C (p.Cys1954Arg)
c.5848T>C (p.Cys1950Arg)
c.5821T>C (p.Cys1941Arg)
n.6405T>C
n.6379T>C
c.6175T>C (p.Cys2059Arg)
c.6169T>C (p.Cys2057Arg)
c.6166T>C (p.Cys2056Arg)
c.6061T>C (p.Cys2021Arg)
c.6058T>C (p.Cys2020Arg)
n.6164T>C
n.6105T>C
n.6150T>C
 gnomAD v4
11g.77211185T>GCA381935616MYO7Ac.6085T>G (p.Cys2029Gly)
c.3886T>G
c.5938T>G (p.Cys1980Gly)
c.3511T>G (p.Cys1171Gly)
c.5971T>G (p.Cys1991Gly)
n.3621T>G
n.25+274T>G
n.1552T>G
c.5968T>G (p.Cys1990Gly)
c.6076T>G (p.Cys2026Gly)
c.6079T>G (p.Cys2027Gly)
c.6052T>G (p.Cys2018Gly)
c.5989T>G (p.Cys1997Gly)
c.5860T>G (p.Cys1954Gly)
c.5848T>G (p.Cys1950Gly)
c.5821T>G (p.Cys1941Gly)
n.6405T>G
n.6379T>G
c.6175T>G (p.Cys2059Gly)
c.6169T>G (p.Cys2057Gly)
c.6166T>G (p.Cys2056Gly)
c.6061T>G (p.Cys2021Gly)
c.6058T>G (p.Cys2020Gly)
n.6164T>G
n.6105T>G
n.6150T>G
11g.77211186G>ACA381935619MYO7Ac.6086G>A (p.Cys2029Tyr)
c.3887G>A
c.5939G>A (p.Cys1980Tyr)
c.3512G>A (p.Cys1171Tyr)
c.5972G>A (p.Cys1991Tyr)
n.3622G>A
n.25+275G>A
n.1553G>A
c.5969G>A (p.Cys1990Tyr)
c.6077G>A (p.Cys2026Tyr)
c.6080G>A (p.Cys2027Tyr)
c.6053G>A (p.Cys2018Tyr)
c.5990G>A (p.Cys1997Tyr)
c.5861G>A (p.Cys1954Tyr)
c.5849G>A (p.Cys1950Tyr)
c.5822G>A (p.Cys1941Tyr)
n.6406G>A
n.6380G>A
c.6176G>A (p.Cys2059Tyr)
c.6170G>A (p.Cys2057Tyr)
c.6167G>A (p.Cys2056Tyr)
c.6062G>A (p.Cys2021Tyr)
c.6059G>A (p.Cys2020Tyr)
n.6165G>A
n.6106G>A
n.6151G>A
 gnomAD v4
11g.77211186G>CCA381935621MYO7Ac.6086G>C (p.Cys2029Ser)
c.3887G>C
c.5939G>C (p.Cys1980Ser)
c.3512G>C (p.Cys1171Ser)
c.5972G>C (p.Cys1991Ser)
n.3622G>C
n.25+275G>C
n.1553G>C
c.5969G>C (p.Cys1990Ser)
c.6077G>C (p.Cys2026Ser)
c.6080G>C (p.Cys2027Ser)
c.6053G>C (p.Cys2018Ser)
c.5990G>C (p.Cys1997Ser)
c.5861G>C (p.Cys1954Ser)
c.5849G>C (p.Cys1950Ser)
c.5822G>C (p.Cys1941Ser)
n.6406G>C
n.6380G>C
c.6176G>C (p.Cys2059Ser)
c.6170G>C (p.Cys2057Ser)
c.6167G>C (p.Cys2056Ser)
c.6062G>C (p.Cys2021Ser)
c.6059G>C (p.Cys2020Ser)
n.6165G>C
n.6106G>C
n.6151G>C
11g.77211186G>TCA381935623MYO7Ac.6086G>T (p.Cys2029Phe)
c.3887G>T
c.5939G>T (p.Cys1980Phe)
c.3512G>T (p.Cys1171Phe)
c.5972G>T (p.Cys1991Phe)
n.3622G>T
n.25+275G>T
n.1553G>T
c.5969G>T (p.Cys1990Phe)
c.6077G>T (p.Cys2026Phe)
c.6080G>T (p.Cys2027Phe)
c.6053G>T (p.Cys2018Phe)
c.5990G>T (p.Cys1997Phe)
c.5861G>T (p.Cys1954Phe)
c.5849G>T (p.Cys1950Phe)
c.5822G>T (p.Cys1941Phe)
n.6406G>T
n.6380G>T
c.6176G>T (p.Cys2059Phe)
c.6170G>T (p.Cys2057Phe)
c.6167G>T (p.Cys2056Phe)
c.6062G>T (p.Cys2021Phe)
c.6059G>T (p.Cys2020Phe)
n.6165G>T
n.6106G>T
n.6151G>T
 gnomAD v4
11g.77211187C>ACA381935626MYO7Ac.6087C>A (p.Cys2029Ter)
c.3888C>A
c.5940C>A (p.Cys1980Ter)
c.3513C>A (p.Cys1171Ter)
c.5973C>A (p.Cys1991Ter)
n.3623C>A
n.25+276C>A
n.1554C>A
c.5970C>A (p.Cys1990Ter)
c.6078C>A (p.Cys2026Ter)
c.6081C>A (p.Cys2027Ter)
c.6054C>A (p.Cys2018Ter)
c.5991C>A (p.Cys1997Ter)
c.5862C>A (p.Cys1954Ter)
c.5850C>A (p.Cys1950Ter)
c.5823C>A (p.Cys1941Ter)
n.6407C>A
n.6381C>A
c.6177C>A (p.Cys2059Ter)
c.6171C>A (p.Cys2057Ter)
c.6168C>A (p.Cys2056Ter)
c.6063C>A (p.Cys2021Ter)
c.6060C>A (p.Cys2020Ter)
n.6166C>A
n.6107C>A
n.6152C>A
 gnomAD v4
11g.77211187C=CA1984129839MYO7Ac.6087C= (p.Cys2029=)
c.3888C=
c.5940C= (p.Cys1980=)
c.3513C= (p.Cys1171=)
c.5973C= (p.Cys1991=)
n.3623C=
n.25+276C=
n.1554C=
c.5970C= (p.Cys1990=)
c.6078C= (p.Cys2026=)
c.6081C= (p.Cys2027=)
c.6054C= (p.Cys2018=)
c.5991C= (p.Cys1997=)
c.5862C= (p.Cys1954=)
c.5850C= (p.Cys1950=)
c.5823C= (p.Cys1941=)
n.6407C=
n.6381C=
c.6177C= (p.Cys2059=)
c.6171C= (p.Cys2057=)
c.6168C= (p.Cys2056=)
c.6063C= (p.Cys2021=)
c.6060C= (p.Cys2020=)
n.6166C=
n.6107C=
n.6152C=
11g.77211187C>GCA381935627MYO7Ac.6087C>G (p.Cys2029Trp)
c.3888C>G
c.5940C>G (p.Cys1980Trp)
c.3513C>G (p.Cys1171Trp)
c.5973C>G (p.Cys1991Trp)
n.3623C>G
n.25+276C>G
n.1554C>G
c.5970C>G (p.Cys1990Trp)
c.6078C>G (p.Cys2026Trp)
c.6081C>G (p.Cys2027Trp)
c.6054C>G (p.Cys2018Trp)
c.5991C>G (p.Cys1997Trp)
c.5862C>G (p.Cys1954Trp)
c.5850C>G (p.Cys1950Trp)
c.5823C>G (p.Cys1941Trp)
n.6407C>G
n.6381C>G
c.6177C>G (p.Cys2059Trp)
c.6171C>G (p.Cys2057Trp)
c.6168C>G (p.Cys2056Trp)
c.6063C>G (p.Cys2021Trp)
c.6060C>G (p.Cys2020Trp)
n.6166C>G
n.6107C>G
n.6152C>G
11g.77211187C>TCA475791904MYO7Ac.6087C>T (p.Cys2029=)
c.3888C>T
c.5940C>T (p.Cys1980=)
c.3513C>T (p.Cys1171=)
c.5973C>T (p.Cys1991=)
n.3623C>T
n.25+276C>T
n.1554C>T
c.5970C>T (p.Cys1990=)
c.6078C>T (p.Cys2026=)
c.6081C>T (p.Cys2027=)
c.6054C>T (p.Cys2018=)
c.5991C>T (p.Cys1997=)
c.5862C>T (p.Cys1954=)
c.5850C>T (p.Cys1950=)
c.5823C>T (p.Cys1941=)
n.6407C>T
n.6381C>T
c.6177C>T (p.Cys2059=)
c.6171C>T (p.Cys2057=)
c.6168C>T (p.Cys2056=)
c.6063C>T (p.Cys2021=)
c.6060C>T (p.Cys2020=)
n.6166C>T
n.6107C>T
n.6152C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.77211188A=CA1984129840MYO7Ac.6088A= (p.Thr2030=)
c.3889A=
c.5941A= (p.Thr1981=)
c.3514A= (p.Thr1172=)
c.5974A= (p.Thr1992=)
n.3624A=
n.25+277A=
n.1555A=
c.5971A= (p.Thr1991=)
c.6079A= (p.Thr2027=)
c.6082A= (p.Thr2028=)
c.6055A= (p.Thr2019=)
c.5992A= (p.Thr1998=)
c.5863A= (p.Thr1955=)
c.5851A= (p.Thr1951=)
c.5824A= (p.Thr1942=)
n.6408A=
n.6382A=
c.6178A= (p.Thr2060=)
c.6172A= (p.Thr2058=)
c.6169A= (p.Thr2057=)
c.6064A= (p.Thr2022=)
c.6061A= (p.Thr2021=)
n.6167A=
n.6108A=
n.6153A=
11g.77211188A>CCA381935631MYO7Ac.6088A>C (p.Thr2030Pro)
c.3889A>C
c.5941A>C (p.Thr1981Pro)
c.3514A>C (p.Thr1172Pro)
c.5974A>C (p.Thr1992Pro)
n.3624A>C
n.25+277A>C
n.1555A>C
c.5971A>C (p.Thr1991Pro)
c.6079A>C (p.Thr2027Pro)
c.6082A>C (p.Thr2028Pro)
c.6055A>C (p.Thr2019Pro)
c.5992A>C (p.Thr1998Pro)
c.5863A>C (p.Thr1955Pro)
c.5851A>C (p.Thr1951Pro)
c.5824A>C (p.Thr1942Pro)
n.6408A>C
n.6382A>C
c.6178A>C (p.Thr2060Pro)
c.6172A>C (p.Thr2058Pro)
c.6169A>C (p.Thr2057Pro)
c.6064A>C (p.Thr2022Pro)
c.6061A>C (p.Thr2021Pro)
n.6167A>C
n.6108A>C
n.6153A>C
11g.77211188A>GCA381935633MYO7Ac.6088A>G (p.Thr2030Ala)
c.3889A>G
c.5941A>G (p.Thr1981Ala)
c.3514A>G (p.Thr1172Ala)
c.5974A>G (p.Thr1992Ala)
n.3624A>G
n.25+277A>G
n.1555A>G
c.5971A>G (p.Thr1991Ala)
c.6079A>G (p.Thr2027Ala)
c.6082A>G (p.Thr2028Ala)
c.6055A>G (p.Thr2019Ala)
c.5992A>G (p.Thr1998Ala)
c.5863A>G (p.Thr1955Ala)
c.5851A>G (p.Thr1951Ala)
c.5824A>G (p.Thr1942Ala)
n.6408A>G
n.6382A>G
c.6178A>G (p.Thr2060Ala)
c.6172A>G (p.Thr2058Ala)
c.6169A>G (p.Thr2057Ala)
c.6064A>G (p.Thr2022Ala)
c.6061A>G (p.Thr2021Ala)
n.6167A>G
n.6108A>G
n.6153A>G
 dbSNP gnomAD v4
11g.77211188A>TCA381935635MYO7Ac.6088A>T (p.Thr2030Ser)
c.3889A>T
c.5941A>T (p.Thr1981Ser)
c.3514A>T (p.Thr1172Ser)
c.5974A>T (p.Thr1992Ser)
n.3624A>T
n.25+277A>T
n.1555A>T
c.5971A>T (p.Thr1991Ser)
c.6079A>T (p.Thr2027Ser)
c.6082A>T (p.Thr2028Ser)
c.6055A>T (p.Thr2019Ser)
c.5992A>T (p.Thr1998Ser)
c.5863A>T (p.Thr1955Ser)
c.5851A>T (p.Thr1951Ser)
c.5824A>T (p.Thr1942Ser)
n.6408A>T
n.6382A>T
c.6178A>T (p.Thr2060Ser)
c.6172A>T (p.Thr2058Ser)
c.6169A>T (p.Thr2057Ser)
c.6064A>T (p.Thr2022Ser)
c.6061A>T (p.Thr2021Ser)
n.6167A>T
n.6108A>T
n.6153A>T
11g.77211189delCA2499221344MYO7Ac.6089del (p.Thr2030SerfsTer11)
c.3890del
c.5942del (p.Thr1981SerfsTer11)
c.3515del (p.Thr1172SerfsTer11)
c.5975del (p.Thr1992SerfsTer11)
n.3625del
n.25+278del
n.1556del
c.5972del (p.Thr1991SerfsTer11)
c.6080del (p.Thr2027SerfsTer11)
c.6083del (p.Thr2028SerfsTer11)
c.6056del (p.Thr2019SerfsTer11)
c.5993del (p.Thr1998SerfsTer11)
c.5864del (p.Thr1955SerfsTer11)
c.5852del (p.Thr1951SerfsTer11)
c.5825del (p.Thr1942SerfsTer11)
n.6409del
n.6383del
c.6179del (p.Thr2060SerfsTer11)
c.6173del (p.Thr2058SerfsTer11)
c.6170del (p.Thr2057SerfsTer11)
c.6065del (p.Thr2022SerfsTer11)
c.6062del (p.Thr2021SerfsTer11)
n.6168del
n.6109del
n.6154del
 ClinVar dbSNP
11g.77211189C>ACA381935640MYO7Ac.6089C>A (p.Thr2030Lys)
c.3890C>A
c.5942C>A (p.Thr1981Lys)
c.3515C>A (p.Thr1172Lys)
c.5975C>A (p.Thr1992Lys)
n.3625C>A
n.25+278C>A
n.1556C>A
c.5972C>A (p.Thr1991Lys)
c.6080C>A (p.Thr2027Lys)
c.6083C>A (p.Thr2028Lys)
c.6056C>A (p.Thr2019Lys)
c.5993C>A (p.Thr1998Lys)
c.5864C>A (p.Thr1955Lys)
c.5852C>A (p.Thr1951Lys)
c.5825C>A (p.Thr1942Lys)
n.6409C>A
n.6383C>A
c.6179C>A (p.Thr2060Lys)
c.6173C>A (p.Thr2058Lys)
c.6170C>A (p.Thr2057Lys)
c.6065C>A (p.Thr2022Lys)
c.6062C>A (p.Thr2021Lys)
n.6168C>A
n.6109C>A
n.6154C>A
 gnomAD v4
11g.77211189C=CA1984129841MYO7Ac.6089C= (p.Thr2030=)
c.3890C=
c.5942C= (p.Thr1981=)
c.3515C= (p.Thr1172=)
c.5975C= (p.Thr1992=)
n.3625C=
n.25+278C=
n.1556C=
c.5972C= (p.Thr1991=)
c.6080C= (p.Thr2027=)
c.6083C= (p.Thr2028=)
c.6056C= (p.Thr2019=)
c.5993C= (p.Thr1998=)
c.5864C= (p.Thr1955=)
c.5852C= (p.Thr1951=)
c.5825C= (p.Thr1942=)
n.6409C=
n.6383C=
c.6179C= (p.Thr2060=)
c.6173C= (p.Thr2058=)
c.6170C= (p.Thr2057=)
c.6065C= (p.Thr2022=)
c.6062C= (p.Thr2021=)
n.6168C=
n.6109C=
n.6154C=
11g.77211189C>GCA381935638MYO7Ac.6089C>G (p.Thr2030Arg)
c.3890C>G
c.5942C>G (p.Thr1981Arg)
c.3515C>G (p.Thr1172Arg)
c.5975C>G (p.Thr1992Arg)
n.3625C>G
n.25+278C>G
n.1556C>G
c.5972C>G (p.Thr1991Arg)
c.6080C>G (p.Thr2027Arg)
c.6083C>G (p.Thr2028Arg)
c.6056C>G (p.Thr2019Arg)
c.5993C>G (p.Thr1998Arg)
c.5864C>G (p.Thr1955Arg)
c.5852C>G (p.Thr1951Arg)
c.5825C>G (p.Thr1942Arg)
n.6409C>G
n.6383C>G
c.6179C>G (p.Thr2060Arg)
c.6173C>G (p.Thr2058Arg)
c.6170C>G (p.Thr2057Arg)
c.6065C>G (p.Thr2022Arg)
c.6062C>G (p.Thr2021Arg)
n.6168C>G
n.6109C>G
n.6154C>G
 gnomAD v4
11g.77211189C>TCA6198933MYO7Ac.6089C>T (p.Thr2030Met)
c.3890C>T
c.5942C>T (p.Thr1981Met)
c.3515C>T (p.Thr1172Met)
c.5975C>T (p.Thr1992Met)
n.3625C>T
n.25+278C>T
n.1556C>T
c.5972C>T (p.Thr1991Met)
c.6080C>T (p.Thr2027Met)
c.6083C>T (p.Thr2028Met)
c.6056C>T (p.Thr2019Met)
c.5993C>T (p.Thr1998Met)
c.5864C>T (p.Thr1955Met)
c.5852C>T (p.Thr1951Met)
c.5825C>T (p.Thr1942Met)
n.6409C>T
n.6383C>T
c.6179C>T (p.Thr2060Met)
c.6173C>T (p.Thr2058Met)
c.6170C>T (p.Thr2057Met)
c.6065C>T (p.Thr2022Met)
c.6062C>T (p.Thr2021Met)
n.6168C>T
n.6109C>T
n.6154C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.77211190G>ACA475791905MYO7Ac.6090G>A (p.Thr2030=)
c.3891G>A
c.5943G>A (p.Thr1981=)
c.3516G>A (p.Thr1172=)
c.5976G>A (p.Thr1992=)
n.3626G>A
n.25+279G>A
n.1557G>A
c.5973G>A (p.Thr1991=)
c.6081G>A (p.Thr2027=)
c.6084G>A (p.Thr2028=)
c.6057G>A (p.Thr2019=)
c.5994G>A (p.Thr1998=)
c.5865G>A (p.Thr1955=)
c.5853G>A (p.Thr1951=)
c.5826G>A (p.Thr1942=)
n.6410G>A
n.6384G>A
c.6180G>A (p.Thr2060=)
c.6174G>A (p.Thr2058=)
c.6171G>A (p.Thr2057=)
c.6066G>A (p.Thr2022=)
c.6063G>A (p.Thr2021=)
n.6169G>A
n.6110G>A
n.6155G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77211190G>CCA475791907MYO7Ac.6090G>C (p.Thr2030=)
c.3891G>C
c.5943G>C (p.Thr1981=)
c.3516G>C (p.Thr1172=)
c.5976G>C (p.Thr1992=)
n.3626G>C
n.25+279G>C
n.1557G>C
c.5973G>C (p.Thr1991=)
c.6081G>C (p.Thr2027=)
c.6084G>C (p.Thr2028=)
c.6057G>C (p.Thr2019=)
c.5994G>C (p.Thr1998=)
c.5865G>C (p.Thr1955=)
c.5853G>C (p.Thr1951=)
c.5826G>C (p.Thr1942=)
n.6410G>C
n.6384G>C
c.6180G>C (p.Thr2060=)
c.6174G>C (p.Thr2058=)
c.6171G>C (p.Thr2057=)
c.6066G>C (p.Thr2022=)
c.6063G>C (p.Thr2021=)
n.6169G>C
n.6110G>C
n.6155G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77211190G=CA1984129842MYO7Ac.6090G= (p.Thr2030=)
c.3891G=
c.5943G= (p.Thr1981=)
c.3516G= (p.Thr1172=)
c.5976G= (p.Thr1992=)
n.3626G=
n.25+279G=
n.1557G=
c.5973G= (p.Thr1991=)
c.6081G= (p.Thr2027=)
c.6084G= (p.Thr2028=)
c.6057G= (p.Thr2019=)
c.5994G= (p.Thr1998=)
c.5865G= (p.Thr1955=)
c.5853G= (p.Thr1951=)
c.5826G= (p.Thr1942=)
n.6410G=
n.6384G=
c.6180G= (p.Thr2060=)
c.6174G= (p.Thr2058=)
c.6171G= (p.Thr2057=)
c.6066G= (p.Thr2022=)
c.6063G= (p.Thr2021=)
n.6169G=
n.6110G=
n.6155G=
11g.77211190G>TCA475791909MYO7Ac.6090G>T (p.Thr2030=)
c.3891G>T
c.5943G>T (p.Thr1981=)
c.3516G>T (p.Thr1172=)
c.5976G>T (p.Thr1992=)
n.3626G>T
n.25+279G>T
n.1557G>T
c.5973G>T (p.Thr1991=)
c.6081G>T (p.Thr2027=)
c.6084G>T (p.Thr2028=)
c.6057G>T (p.Thr2019=)
c.5994G>T (p.Thr1998=)
c.5865G>T (p.Thr1955=)
c.5853G>T (p.Thr1951=)
c.5826G>T (p.Thr1942=)
n.6410G>T
n.6384G>T
c.6180G>T (p.Thr2060=)
c.6174G>T (p.Thr2058=)
c.6171G>T (p.Thr2057=)
c.6066G>T (p.Thr2022=)
c.6063G>T (p.Thr2021=)
n.6169G>T
n.6110G>T
n.6155G>T
 gnomAD v4
11g.77211191C>ACA475791911MYO7Ac.6091C>A (p.Arg2031=)
c.3892C>A
c.5944C>A (p.Arg1982=)
c.3517C>A (p.Arg1173=)
c.5977C>A (p.Arg1993=)
n.3627C>A
n.25+280C>A
n.1558C>A
c.5974C>A (p.Arg1992=)
c.6082C>A (p.Arg2028=)
c.6085C>A (p.Arg2029=)
c.6058C>A (p.Arg2020=)
c.5995C>A (p.Arg1999=)
c.5866C>A (p.Arg1956=)
c.5854C>A (p.Arg1952=)
c.5827C>A (p.Arg1943=)
n.6411C>A
n.6385C>A
c.6181C>A (p.Arg2061=)
c.6175C>A (p.Arg2059=)
c.6172C>A (p.Arg2058=)
c.6067C>A (p.Arg2023=)
c.6064C>A (p.Arg2022=)
n.6170C>A
n.6111C>A
n.6156C>A
 gnomAD v4
11g.77211191C=CA1984129843MYO7Ac.6091C= (p.Arg2031=)
c.3892C=
c.5944C= (p.Arg1982=)
c.3517C= (p.Arg1173=)
c.5977C= (p.Arg1993=)
n.3627C=
n.25+280C=
n.1558C=
c.5974C= (p.Arg1992=)
c.6082C= (p.Arg2028=)
c.6085C= (p.Arg2029=)
c.6058C= (p.Arg2020=)
c.5995C= (p.Arg1999=)
c.5866C= (p.Arg1956=)
c.5854C= (p.Arg1952=)
c.5827C= (p.Arg1943=)
n.6411C=
n.6385C=
c.6181C= (p.Arg2061=)
c.6175C= (p.Arg2059=)
c.6172C= (p.Arg2058=)
c.6067C= (p.Arg2023=)
c.6064C= (p.Arg2022=)
n.6170C=
n.6111C=
n.6156C=
11g.77211191C>GCA381935647MYO7Ac.6091C>G (p.Arg2031Gly)
c.3892C>G
c.5944C>G (p.Arg1982Gly)
c.3517C>G (p.Arg1173Gly)
c.5977C>G (p.Arg1993Gly)
n.3627C>G
n.25+280C>G
n.1558C>G
c.5974C>G (p.Arg1992Gly)
c.6082C>G (p.Arg2028Gly)
c.6085C>G (p.Arg2029Gly)
c.6058C>G (p.Arg2020Gly)
c.5995C>G (p.Arg1999Gly)
c.5866C>G (p.Arg1956Gly)
c.5854C>G (p.Arg1952Gly)
c.5827C>G (p.Arg1943Gly)
n.6411C>G
n.6385C>G
c.6181C>G (p.Arg2061Gly)
c.6175C>G (p.Arg2059Gly)
c.6172C>G (p.Arg2058Gly)
c.6067C>G (p.Arg2023Gly)
c.6064C>G (p.Arg2022Gly)
n.6170C>G
n.6111C>G
n.6156C>G
11g.77211191C>TCA6198934MYO7Ac.6091C>T (p.Arg2031Trp)
c.3892C>T
c.5944C>T (p.Arg1982Trp)
c.3517C>T (p.Arg1173Trp)
c.5977C>T (p.Arg1993Trp)
n.3627C>T
n.25+280C>T
n.1558C>T
c.5974C>T (p.Arg1992Trp)
c.6082C>T (p.Arg2028Trp)
c.6085C>T (p.Arg2029Trp)
c.6058C>T (p.Arg2020Trp)
c.5995C>T (p.Arg1999Trp)
c.5866C>T (p.Arg1956Trp)
c.5854C>T (p.Arg1952Trp)
c.5827C>T (p.Arg1943Trp)
n.6411C>T
n.6385C>T
c.6181C>T (p.Arg2061Trp)
c.6175C>T (p.Arg2059Trp)
c.6172C>T (p.Arg2058Trp)
c.6067C>T (p.Arg2023Trp)
c.6064C>T (p.Arg2022Trp)
n.6170C>T
n.6111C>T
n.6156C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.77211192G>ACA6198935MYO7Ac.6092G>A (p.Arg2031Gln)
c.3893G>A
c.5945G>A (p.Arg1982Gln)
c.3518G>A (p.Arg1173Gln)
c.5978G>A (p.Arg1993Gln)
n.3628G>A
n.25+281G>A
n.1559G>A
c.5975G>A (p.Arg1992Gln)
c.6083G>A (p.Arg2028Gln)
c.6086G>A (p.Arg2029Gln)
c.6059G>A (p.Arg2020Gln)
c.5996G>A (p.Arg1999Gln)
c.5867G>A (p.Arg1956Gln)
c.5855G>A (p.Arg1952Gln)
c.5828G>A (p.Arg1943Gln)
n.6412G>A
n.6386G>A
c.6182G>A (p.Arg2061Gln)
c.6176G>A (p.Arg2059Gln)
c.6173G>A (p.Arg2058Gln)
c.6068G>A (p.Arg2023Gln)
c.6065G>A (p.Arg2022Gln)
n.6171G>A
n.6112G>A
n.6157G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77211192G>CCA381935654MYO7Ac.6092G>C (p.Arg2031Pro)
c.3893G>C
c.5945G>C (p.Arg1982Pro)
c.3518G>C (p.Arg1173Pro)
c.5978G>C (p.Arg1993Pro)
n.3628G>C
n.25+281G>C
n.1559G>C
c.5975G>C (p.Arg1992Pro)
c.6083G>C (p.Arg2028Pro)
c.6086G>C (p.Arg2029Pro)
c.6059G>C (p.Arg2020Pro)
c.5996G>C (p.Arg1999Pro)
c.5867G>C (p.Arg1956Pro)
c.5855G>C (p.Arg1952Pro)
c.5828G>C (p.Arg1943Pro)
n.6412G>C
n.6386G>C
c.6182G>C (p.Arg2061Pro)
c.6176G>C (p.Arg2059Pro)
c.6173G>C (p.Arg2058Pro)
c.6068G>C (p.Arg2023Pro)
c.6065G>C (p.Arg2022Pro)
n.6171G>C
n.6112G>C
n.6157G>C
 dbSNP gnomAD v2 gnomAD v4
11g.77211192G=CA1984129844MYO7Ac.6092G= (p.Arg2031=)
c.3893G=
c.5945G= (p.Arg1982=)
c.3518G= (p.Arg1173=)
c.5978G= (p.Arg1993=)
n.3628G=
n.25+281G=
n.1559G=
c.5975G= (p.Arg1992=)
c.6083G= (p.Arg2028=)
c.6086G= (p.Arg2029=)
c.6059G= (p.Arg2020=)
c.5996G= (p.Arg1999=)
c.5867G= (p.Arg1956=)
c.5855G= (p.Arg1952=)
c.5828G= (p.Arg1943=)
n.6412G=
n.6386G=
c.6182G= (p.Arg2061=)
c.6176G= (p.Arg2059=)
c.6173G= (p.Arg2058=)
c.6068G= (p.Arg2023=)
c.6065G= (p.Arg2022=)
n.6171G=
n.6112G=
n.6157G=
11g.77211192G>TCA381935656MYO7Ac.6092G>T (p.Arg2031Leu)
c.3893G>T
c.5945G>T (p.Arg1982Leu)
c.3518G>T (p.Arg1173Leu)
c.5978G>T (p.Arg1993Leu)
n.3628G>T
n.25+281G>T
n.1559G>T
c.5975G>T (p.Arg1992Leu)
c.6083G>T (p.Arg2028Leu)
c.6086G>T (p.Arg2029Leu)
c.6059G>T (p.Arg2020Leu)
c.5996G>T (p.Arg1999Leu)
c.5867G>T (p.Arg1956Leu)
c.5855G>T (p.Arg1952Leu)
c.5828G>T (p.Arg1943Leu)
n.6412G>T
n.6386G>T
c.6182G>T (p.Arg2061Leu)
c.6176G>T (p.Arg2059Leu)
c.6173G>T (p.Arg2058Leu)
c.6068G>T (p.Arg2023Leu)
c.6065G>T (p.Arg2022Leu)
n.6171G>T
n.6112G>T
n.6157G>T
 dbSNP gnomAD v4
11g.77211194delCA2615262498MYO7Ac.6094del (p.Glu2032ArgfsTer9)
c.3895del
c.5947del (p.Glu1983ArgfsTer9)
c.3520del (p.Glu1174ArgfsTer9)
c.5980del (p.Glu1994ArgfsTer9)
n.3630del
n.25+283del
n.1561del
c.5977del (p.Glu1993ArgfsTer9)
c.6085del (p.Glu2029ArgfsTer9)
c.6088del (p.Glu2030ArgfsTer9)
c.6061del (p.Glu2021ArgfsTer9)
c.5998del (p.Glu2000ArgfsTer9)
c.5869del (p.Glu1957ArgfsTer9)
c.5857del (p.Glu1953ArgfsTer9)
c.5830del (p.Glu1944ArgfsTer9)
n.6414del
n.6388del
c.6184del (p.Glu2062ArgfsTer9)
c.6178del (p.Glu2060ArgfsTer9)
c.6175del (p.Glu2059ArgfsTer9)
c.6070del (p.Glu2024ArgfsTer9)
c.6067del (p.Glu2023ArgfsTer9)
n.6173del
n.6114del
n.6159del
 gnomAD v4
11g.77211193G>ACA475791914MYO7Ac.6093G>A (p.Arg2031=)
c.3894G>A
c.5946G>A (p.Arg1982=)
c.3519G>A (p.Arg1173=)
c.5979G>A (p.Arg1993=)
n.3629G>A
n.25+282G>A
n.1560G>A
c.5976G>A (p.Arg1992=)
c.6084G>A (p.Arg2028=)
c.6087G>A (p.Arg2029=)
c.6060G>A (p.Arg2020=)
c.5997G>A (p.Arg1999=)
c.5868G>A (p.Arg1956=)
c.5856G>A (p.Arg1952=)
c.5829G>A (p.Arg1943=)
n.6413G>A
n.6387G>A
c.6183G>A (p.Arg2061=)
c.6177G>A (p.Arg2059=)
c.6174G>A (p.Arg2058=)
c.6069G>A (p.Arg2023=)
c.6066G>A (p.Arg2022=)
n.6172G>A
n.6113G>A
n.6158G>A
 ClinVar gnomAD v4
11g.77211193G>CCA224827661MYO7Ac.6093G>C (p.Arg2031=)
c.3894G>C
c.5946G>C (p.Arg1982=)
c.3519G>C (p.Arg1173=)
c.5979G>C (p.Arg1993=)
n.3629G>C
n.25+282G>C
n.1560G>C
c.5976G>C (p.Arg1992=)
c.6084G>C (p.Arg2028=)
c.6087G>C (p.Arg2029=)
c.6060G>C (p.Arg2020=)
c.5997G>C (p.Arg1999=)
c.5868G>C (p.Arg1956=)
c.5856G>C (p.Arg1952=)
c.5829G>C (p.Arg1943=)
n.6413G>C
n.6387G>C
c.6183G>C (p.Arg2061=)
c.6177G>C (p.Arg2059=)
c.6174G>C (p.Arg2058=)
c.6069G>C (p.Arg2023=)
c.6066G>C (p.Arg2022=)
n.6172G>C
n.6113G>C
n.6158G>C
 dbSNP
11g.77211193G=CA1984129845MYO7Ac.6093G= (p.Arg2031=)
c.3894G=
c.5946G= (p.Arg1982=)
c.3519G= (p.Arg1173=)
c.5979G= (p.Arg1993=)
n.3629G=
n.25+282G=
n.1560G=
c.5976G= (p.Arg1992=)
c.6084G= (p.Arg2028=)
c.6087G= (p.Arg2029=)
c.6060G= (p.Arg2020=)
c.5997G= (p.Arg1999=)
c.5868G= (p.Arg1956=)
c.5856G= (p.Arg1952=)
c.5829G= (p.Arg1943=)
n.6413G=
n.6387G=
c.6183G= (p.Arg2061=)
c.6177G= (p.Arg2059=)
c.6174G= (p.Arg2058=)
c.6069G= (p.Arg2023=)
c.6066G= (p.Arg2022=)
n.6172G=
n.6113G=
n.6158G=
11g.77211193G>TCA475791913MYO7Ac.6093G>T (p.Arg2031=)
c.3894G>T
c.5946G>T (p.Arg1982=)
c.3519G>T (p.Arg1173=)
c.5979G>T (p.Arg1993=)
n.3629G>T
n.25+282G>T
n.1560G>T
c.5976G>T (p.Arg1992=)
c.6084G>T (p.Arg2028=)
c.6087G>T (p.Arg2029=)
c.6060G>T (p.Arg2020=)
c.5997G>T (p.Arg1999=)
c.5868G>T (p.Arg1956=)
c.5856G>T (p.Arg1952=)
c.5829G>T (p.Arg1943=)
n.6413G>T
n.6387G>T
c.6183G>T (p.Arg2061=)
c.6177G>T (p.Arg2059=)
c.6174G>T (p.Arg2058=)
c.6069G>T (p.Arg2023=)
c.6066G>T (p.Arg2022=)
n.6172G>T
n.6113G>T
n.6158G>T
 gnomAD v4
11g.77211194G>ACA381935659MYO7Ac.6094G>A (p.Glu2032Lys)
c.3895G>A
c.5947G>A (p.Glu1983Lys)
c.3520G>A (p.Glu1174Lys)
c.5980G>A (p.Glu1994Lys)
n.3630G>A
n.25+283G>A
n.1561G>A
c.5977G>A (p.Glu1993Lys)
c.6085G>A (p.Glu2029Lys)
c.6088G>A (p.Glu2030Lys)
c.6061G>A (p.Glu2021Lys)
c.5998G>A (p.Glu2000Lys)
c.5869G>A (p.Glu1957Lys)
c.5857G>A (p.Glu1953Lys)
c.5830G>A (p.Glu1944Lys)
n.6414G>A
n.6388G>A
c.6184G>A (p.Glu2062Lys)
c.6178G>A (p.Glu2060Lys)
c.6175G>A (p.Glu2059Lys)
c.6070G>A (p.Glu2024Lys)
c.6067G>A (p.Glu2023Lys)
n.6173G>A
n.6114G>A
n.6159G>A
 dbSNP gnomAD v3 gnomAD v4
11g.77211194G>CCA381935661MYO7Ac.6094G>C (p.Glu2032Gln)
c.3895G>C
c.5947G>C (p.Glu1983Gln)
c.3520G>C (p.Glu1174Gln)
c.5980G>C (p.Glu1994Gln)
n.3630G>C
n.25+283G>C
n.1561G>C
c.5977G>C (p.Glu1993Gln)
c.6085G>C (p.Glu2029Gln)
c.6088G>C (p.Glu2030Gln)
c.6061G>C (p.Glu2021Gln)
c.5998G>C (p.Glu2000Gln)
c.5869G>C (p.Glu1957Gln)
c.5857G>C (p.Glu1953Gln)
c.5830G>C (p.Glu1944Gln)
n.6414G>C
n.6388G>C
c.6184G>C (p.Glu2062Gln)
c.6178G>C (p.Glu2060Gln)
c.6175G>C (p.Glu2059Gln)
c.6070G>C (p.Glu2024Gln)
c.6067G>C (p.Glu2023Gln)
n.6173G>C
n.6114G>C
n.6159G>C
 ClinVar
11g.77211194G=CA1984129846MYO7Ac.6094G= (p.Glu2032=)
c.3895G=
c.5947G= (p.Glu1983=)
c.3520G= (p.Glu1174=)
c.5980G= (p.Glu1994=)
n.3630G=
n.25+283G=
n.1561G=
c.5977G= (p.Glu1993=)
c.6085G= (p.Glu2029=)
c.6088G= (p.Glu2030=)
c.6061G= (p.Glu2021=)
c.5998G= (p.Glu2000=)
c.5869G= (p.Glu1957=)
c.5857G= (p.Glu1953=)
c.5830G= (p.Glu1944=)
n.6414G=
n.6388G=
c.6184G= (p.Glu2062=)
c.6178G= (p.Glu2060=)
c.6175G= (p.Glu2059=)
c.6070G= (p.Glu2024=)
c.6067G= (p.Glu2023=)
n.6173G=
n.6114G=
n.6159G=
11g.77211194G>TCA381935663MYO7Ac.6094G>T (p.Glu2032Ter)
c.3895G>T
c.5947G>T (p.Glu1983Ter)
c.3520G>T (p.Glu1174Ter)
c.5980G>T (p.Glu1994Ter)
n.3630G>T
n.25+283G>T
n.1561G>T
c.5977G>T (p.Glu1993Ter)
c.6085G>T (p.Glu2029Ter)
c.6088G>T (p.Glu2030Ter)
c.6061G>T (p.Glu2021Ter)
c.5998G>T (p.Glu2000Ter)
c.5869G>T (p.Glu1957Ter)
c.5857G>T (p.Glu1953Ter)
c.5830G>T (p.Glu1944Ter)
n.6414G>T
n.6388G>T
c.6184G>T (p.Glu2062Ter)
c.6178G>T (p.Glu2060Ter)
c.6175G>T (p.Glu2059Ter)
c.6070G>T (p.Glu2024Ter)
c.6067G>T (p.Glu2023Ter)
n.6173G>T
n.6114G>T
n.6159G>T
 gnomAD v4
11g.77211195A>CCA381935667MYO7Ac.6095A>C (p.Glu2032Ala)
c.3896A>C
c.5948A>C (p.Glu1983Ala)
c.3521A>C (p.Glu1174Ala)
c.5981A>C (p.Glu1994Ala)
n.3631A>C
n.25+284A>C
n.1562A>C
c.5978A>C (p.Glu1993Ala)
c.6086A>C (p.Glu2029Ala)
c.6089A>C (p.Glu2030Ala)
c.6062A>C (p.Glu2021Ala)
c.5999A>C (p.Glu2000Ala)
c.5870A>C (p.Glu1957Ala)
c.5858A>C (p.Glu1953Ala)
c.5831A>C (p.Glu1944Ala)
n.6415A>C
n.6389A>C
c.6185A>C (p.Glu2062Ala)
c.6179A>C (p.Glu2060Ala)
c.6176A>C (p.Glu2059Ala)
c.6071A>C (p.Glu2024Ala)
c.6068A>C (p.Glu2023Ala)
n.6174A>C
n.6115A>C
n.6160A>C
11g.77211195A>GCA381935669MYO7Ac.6095A>G (p.Glu2032Gly)
c.3896A>G
c.5948A>G (p.Glu1983Gly)
c.3521A>G (p.Glu1174Gly)
c.5981A>G (p.Glu1994Gly)
n.3631A>G
n.25+284A>G
n.1562A>G
c.5978A>G (p.Glu1993Gly)
c.6086A>G (p.Glu2029Gly)
c.6089A>G (p.Glu2030Gly)
c.6062A>G (p.Glu2021Gly)
c.5999A>G (p.Glu2000Gly)
c.5870A>G (p.Glu1957Gly)
c.5858A>G (p.Glu1953Gly)
c.5831A>G (p.Glu1944Gly)
n.6415A>G
n.6389A>G
c.6185A>G (p.Glu2062Gly)
c.6179A>G (p.Glu2060Gly)
c.6176A>G (p.Glu2059Gly)
c.6071A>G (p.Glu2024Gly)
c.6068A>G (p.Glu2023Gly)
n.6174A>G
n.6115A>G
n.6160A>G
 gnomAD v4
11g.77211195A>TCA381935670MYO7Ac.6095A>T (p.Glu2032Val)
c.3896A>T
c.5948A>T (p.Glu1983Val)
c.3521A>T (p.Glu1174Val)
c.5981A>T (p.Glu1994Val)
n.3631A>T
n.25+284A>T
n.1562A>T
c.5978A>T (p.Glu1993Val)
c.6086A>T (p.Glu2029Val)
c.6089A>T (p.Glu2030Val)
c.6062A>T (p.Glu2021Val)
c.5999A>T (p.Glu2000Val)
c.5870A>T (p.Glu1957Val)
c.5858A>T (p.Glu1953Val)
c.5831A>T (p.Glu1944Val)
n.6415A>T
n.6389A>T
c.6185A>T (p.Glu2062Val)
c.6179A>T (p.Glu2060Val)
c.6176A>T (p.Glu2059Val)
c.6071A>T (p.Glu2024Val)
c.6068A>T (p.Glu2023Val)
n.6174A>T
n.6115A>T
n.6160A>T
11g.77211196G>ACA6198936MYO7Ac.6096G>A (p.Glu2032=)
c.3897G>A
c.5949G>A (p.Glu1983=)
c.3522G>A (p.Glu1174=)
c.5982G>A (p.Glu1994=)
n.3632G>A
n.25+285G>A
n.1563G>A
c.5979G>A (p.Glu1993=)
c.6087G>A (p.Glu2029=)
c.6090G>A (p.Glu2030=)
c.6063G>A (p.Glu2021=)
c.6000G>A (p.Glu2000=)
c.5871G>A (p.Glu1957=)
c.5859G>A (p.Glu1953=)
c.5832G>A (p.Glu1944=)
n.6416G>A
n.6390G>A
c.6186G>A (p.Glu2062=)
c.6180G>A (p.Glu2060=)
c.6177G>A (p.Glu2059=)
c.6072G>A (p.Glu2024=)
c.6069G>A (p.Glu2023=)
n.6175G>A
n.6116G>A
n.6161G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.77211196G>CCA381935674MYO7Ac.6096G>C (p.Glu2032Asp)
c.3897G>C
c.5949G>C (p.Glu1983Asp)
c.3522G>C (p.Glu1174Asp)
c.5982G>C (p.Glu1994Asp)
n.3632G>C
n.25+285G>C
n.1563G>C
c.5979G>C (p.Glu1993Asp)
c.6087G>C (p.Glu2029Asp)
c.6090G>C (p.Glu2030Asp)
c.6063G>C (p.Glu2021Asp)
c.6000G>C (p.Glu2000Asp)
c.5871G>C (p.Glu1957Asp)
c.5859G>C (p.Glu1953Asp)
c.5832G>C (p.Glu1944Asp)
n.6416G>C
n.6390G>C
c.6186G>C (p.Glu2062Asp)
c.6180G>C (p.Glu2060Asp)
c.6177G>C (p.Glu2059Asp)
c.6072G>C (p.Glu2024Asp)
c.6069G>C (p.Glu2023Asp)
n.6175G>C
n.6116G>C
n.6161G>C
 ClinVar dbSNP gnomAD v4
11g.77211196G=CA1984129847MYO7Ac.6096G= (p.Glu2032=)
c.3897G=
c.5949G= (p.Glu1983=)
c.3522G= (p.Glu1174=)
c.5982G= (p.Glu1994=)
n.3632G=
n.25+285G=
n.1563G=
c.5979G= (p.Glu1993=)
c.6087G= (p.Glu2029=)
c.6090G= (p.Glu2030=)
c.6063G= (p.Glu2021=)
c.6000G= (p.Glu2000=)
c.5871G= (p.Glu1957=)
c.5859G= (p.Glu1953=)
c.5832G= (p.Glu1944=)
n.6416G=
n.6390G=
c.6186G= (p.Glu2062=)
c.6180G= (p.Glu2060=)
c.6177G= (p.Glu2059=)
c.6072G= (p.Glu2024=)
c.6069G= (p.Glu2023=)
n.6175G=
n.6116G=
n.6161G=
11g.77211196G>TCA381935672MYO7Ac.6096G>T (p.Glu2032Asp)
c.3897G>T
c.5949G>T (p.Glu1983Asp)
c.3522G>T (p.Glu1174Asp)
c.5982G>T (p.Glu1994Asp)
n.3632G>T
n.25+285G>T
n.1563G>T
c.5979G>T (p.Glu1993Asp)
c.6087G>T (p.Glu2029Asp)
c.6090G>T (p.Glu2030Asp)
c.6063G>T (p.Glu2021Asp)
c.6000G>T (p.Glu2000Asp)
c.5871G>T (p.Glu1957Asp)
c.5859G>T (p.Glu1953Asp)
c.5832G>T (p.Glu1944Asp)
n.6416G>T
n.6390G>T
c.6186G>T (p.Glu2062Asp)
c.6180G>T (p.Glu2060Asp)
c.6177G>T (p.Glu2059Asp)
c.6072G>T (p.Glu2024Asp)
c.6069G>T (p.Glu2023Asp)
n.6175G>T
n.6116G>T
n.6161G>T
 gnomAD v4
11g.77211197G>ACA381935677MYO7Ac.6097G>A (p.Glu2033Lys)
c.3898G>A
c.5950G>A (p.Glu1984Lys)
c.3523G>A (p.Glu1175Lys)
c.5983G>A (p.Glu1995Lys)
n.3633G>A
n.25+286G>A
n.1564G>A
c.5980G>A (p.Glu1994Lys)
c.6088G>A (p.Glu2030Lys)
c.6091G>A (p.Glu2031Lys)
c.6064G>A (p.Glu2022Lys)
c.6001G>A (p.Glu2001Lys)
c.5872G>A (p.Glu1958Lys)
c.5860G>A (p.Glu1954Lys)
c.5833G>A (p.Glu1945Lys)
n.6417G>A
n.6391G>A
c.6187G>A (p.Glu2063Lys)
c.6181G>A (p.Glu2061Lys)
c.6178G>A (p.Glu2060Lys)
c.6073G>A (p.Glu2025Lys)
c.6070G>A (p.Glu2024Lys)
n.6176G>A
n.6117G>A
n.6162G>A
11g.77211197G>CCA381935679MYO7Ac.6097G>C (p.Glu2033Gln)
c.3898G>C
c.5950G>C (p.Glu1984Gln)
c.3523G>C (p.Glu1175Gln)
c.5983G>C (p.Glu1995Gln)
n.3633G>C
n.25+286G>C
n.1564G>C
c.5980G>C (p.Glu1994Gln)
c.6088G>C (p.Glu2030Gln)
c.6091G>C (p.Glu2031Gln)
c.6064G>C (p.Glu2022Gln)
c.6001G>C (p.Glu2001Gln)
c.5872G>C (p.Glu1958Gln)
c.5860G>C (p.Glu1954Gln)
c.5833G>C (p.Glu1945Gln)
n.6417G>C
n.6391G>C
c.6187G>C (p.Glu2063Gln)
c.6181G>C (p.Glu2061Gln)
c.6178G>C (p.Glu2060Gln)
c.6073G>C (p.Glu2025Gln)
c.6070G>C (p.Glu2024Gln)
n.6176G>C
n.6117G>C
n.6162G>C
11g.77211197G>TCA381935682MYO7Ac.6097G>T (p.Glu2033Ter)
c.3898G>T
c.5950G>T (p.Glu1984Ter)
c.3523G>T (p.Glu1175Ter)
c.5983G>T (p.Glu1995Ter)
n.3633G>T
n.25+286G>T
n.1564G>T
c.5980G>T (p.Glu1994Ter)
c.6088G>T (p.Glu2030Ter)
c.6091G>T (p.Glu2031Ter)
c.6064G>T (p.Glu2022Ter)
c.6001G>T (p.Glu2001Ter)
c.5872G>T (p.Glu1958Ter)
c.5860G>T (p.Glu1954Ter)
c.5833G>T (p.Glu1945Ter)
n.6417G>T
n.6391G>T
c.6187G>T (p.Glu2063Ter)
c.6181G>T (p.Glu2061Ter)
c.6178G>T (p.Glu2060Ter)
c.6073G>T (p.Glu2025Ter)
c.6070G>T (p.Glu2024Ter)
n.6176G>T
n.6117G>T
n.6162G>T
 gnomAD v4
11g.77211198A>CCA381935685MYO7Ac.6098A>C (p.Glu2033Ala)
c.3899A>C
c.5951A>C (p.Glu1984Ala)
c.3524A>C (p.Glu1175Ala)
c.5984A>C (p.Glu1995Ala)
n.3634A>C
n.25+287A>C
n.1565A>C
c.5981A>C (p.Glu1994Ala)
c.6089A>C (p.Glu2030Ala)
c.6092A>C (p.Glu2031Ala)
c.6065A>C (p.Glu2022Ala)
c.6002A>C (p.Glu2001Ala)
c.5873A>C (p.Glu1958Ala)
c.5861A>C (p.Glu1954Ala)
c.5834A>C (p.Glu1945Ala)
n.6418A>C
n.6392A>C
c.6188A>C (p.Glu2063Ala)
c.6182A>C (p.Glu2061Ala)
c.6179A>C (p.Glu2060Ala)
c.6074A>C (p.Glu2025Ala)
c.6071A>C (p.Glu2024Ala)
n.6177A>C
n.6118A>C
n.6163A>C
11g.77211198A>GCA381935687MYO7Ac.6098A>G (p.Glu2033Gly)
c.3899A>G
c.5951A>G (p.Glu1984Gly)
c.3524A>G (p.Glu1175Gly)
c.5984A>G (p.Glu1995Gly)
n.3634A>G
n.25+287A>G
n.1565A>G
c.5981A>G (p.Glu1994Gly)
c.6089A>G (p.Glu2030Gly)
c.6092A>G (p.Glu2031Gly)
c.6065A>G (p.Glu2022Gly)
c.6002A>G (p.Glu2001Gly)
c.5873A>G (p.Glu1958Gly)
c.5861A>G (p.Glu1954Gly)
c.5834A>G (p.Glu1945Gly)
n.6418A>G
n.6392A>G
c.6188A>G (p.Glu2063Gly)
c.6182A>G (p.Glu2061Gly)
c.6179A>G (p.Glu2060Gly)
c.6074A>G (p.Glu2025Gly)
c.6071A>G (p.Glu2024Gly)
n.6177A>G
n.6118A>G
n.6163A>G
 gnomAD v4
11g.77211198A>TCA381935689MYO7Ac.6098A>T (p.Glu2033Val)
c.3899A>T
c.5951A>T (p.Glu1984Val)
c.3524A>T (p.Glu1175Val)
c.5984A>T (p.Glu1995Val)
n.3634A>T
n.25+287A>T
n.1565A>T
c.5981A>T (p.Glu1994Val)
c.6089A>T (p.Glu2030Val)
c.6092A>T (p.Glu2031Val)
c.6065A>T (p.Glu2022Val)
c.6002A>T (p.Glu2001Val)
c.5873A>T (p.Glu1958Val)
c.5861A>T (p.Glu1954Val)
c.5834A>T (p.Glu1945Val)
n.6418A>T
n.6392A>T
c.6188A>T (p.Glu2063Val)
c.6182A>T (p.Glu2061Val)
c.6179A>T (p.Glu2060Val)
c.6074A>T (p.Glu2025Val)
c.6071A>T (p.Glu2024Val)
n.6177A>T
n.6118A>T
n.6163A>T
 gnomAD v4
11g.77211199G>ACA475791916MYO7Ac.6099G>A (p.Glu2033=)
c.3900G>A
c.5952G>A (p.Glu1984=)
c.3525G>A (p.Glu1175=)
c.5985G>A (p.Glu1995=)
n.3635G>A
n.25+288G>A
n.1566G>A
c.5982G>A (p.Glu1994=)
c.6090G>A (p.Glu2030=)
c.6093G>A (p.Glu2031=)
c.6066G>A (p.Glu2022=)
c.6003G>A (p.Glu2001=)
c.5874G>A (p.Glu1958=)
c.5862G>A (p.Glu1954=)
c.5835G>A (p.Glu1945=)
n.6419G>A
n.6393G>A
c.6189G>A (p.Glu2063=)
c.6183G>A (p.Glu2061=)
c.6180G>A (p.Glu2060=)
c.6075G>A (p.Glu2025=)
c.6072G>A (p.Glu2024=)
n.6178G>A
n.6119G>A
n.6164G>A
 gnomAD v4
11g.77211199G>CCA381935692MYO7Ac.6099G>C (p.Glu2033Asp)
c.3900G>C
c.5952G>C (p.Glu1984Asp)
c.3525G>C (p.Glu1175Asp)
c.5985G>C (p.Glu1995Asp)
n.3635G>C
n.25+288G>C
n.1566G>C
c.5982G>C (p.Glu1994Asp)
c.6090G>C (p.Glu2030Asp)
c.6093G>C (p.Glu2031Asp)
c.6066G>C (p.Glu2022Asp)
c.6003G>C (p.Glu2001Asp)
c.5874G>C (p.Glu1958Asp)
c.5862G>C (p.Glu1954Asp)
c.5835G>C (p.Glu1945Asp)
n.6419G>C
n.6393G>C
c.6189G>C (p.Glu2063Asp)
c.6183G>C (p.Glu2061Asp)
c.6180G>C (p.Glu2060Asp)
c.6075G>C (p.Glu2025Asp)
c.6072G>C (p.Glu2024Asp)
n.6178G>C
n.6119G>C
n.6164G>C
11g.77211199G>TCA381935694MYO7Ac.6099G>T (p.Glu2033Asp)
c.3900G>T
c.5952G>T (p.Glu1984Asp)
c.3525G>T (p.Glu1175Asp)
c.5985G>T (p.Glu1995Asp)
n.3635G>T
n.25+288G>T
n.1566G>T
c.5982G>T (p.Glu1994Asp)
c.6090G>T (p.Glu2030Asp)
c.6093G>T (p.Glu2031Asp)
c.6066G>T (p.Glu2022Asp)
c.6003G>T (p.Glu2001Asp)
c.5874G>T (p.Glu1958Asp)
c.5862G>T (p.Glu1954Asp)
c.5835G>T (p.Glu1945Asp)
n.6419G>T
n.6393G>T
c.6189G>T (p.Glu2063Asp)
c.6183G>T (p.Glu2061Asp)
c.6180G>T (p.Glu2060Asp)
c.6075G>T (p.Glu2025Asp)
c.6072G>T (p.Glu2024Asp)
n.6178G>T
n.6119G>T
n.6164G>T
 gnomAD v4
11g.77211200G>ACA381935698MYO7Ac.6100G>A (p.Val2034Met)
c.3901G>A
c.5953G>A (p.Val1985Met)
c.3526G>A (p.Val1176Met)
c.5986G>A (p.Val1996Met)
n.3636G>A
n.25+289G>A
n.1567G>A
c.5983G>A (p.Val1995Met)
c.6091G>A (p.Val2031Met)
c.6094G>A (p.Val2032Met)
c.6067G>A (p.Val2023Met)
c.6004G>A (p.Val2002Met)
c.5875G>A (p.Val1959Met)
c.5863G>A (p.Val1955Met)
c.5836G>A (p.Val1946Met)
n.6420G>A
n.6394G>A
c.6190G>A (p.Val2064Met)
c.6184G>A (p.Val2062Met)
c.6181G>A (p.Val2061Met)
c.6076G>A (p.Val2026Met)
c.6073G>A (p.Val2025Met)
n.6179G>A
n.6120G>A
n.6165G>A
 dbSNP gnomAD v2 gnomAD v4
11g.77211200G>CCA381935702MYO7Ac.6100G>C (p.Val2034Leu)
c.3901G>C
c.5953G>C (p.Val1985Leu)
c.3526G>C (p.Val1176Leu)
c.5986G>C (p.Val1996Leu)
n.3636G>C
n.25+289G>C
n.1567G>C
c.5983G>C (p.Val1995Leu)
c.6091G>C (p.Val2031Leu)
c.6094G>C (p.Val2032Leu)
c.6067G>C (p.Val2023Leu)
c.6004G>C (p.Val2002Leu)
c.5875G>C (p.Val1959Leu)
c.5863G>C (p.Val1955Leu)
c.5836G>C (p.Val1946Leu)
n.6420G>C
n.6394G>C
c.6190G>C (p.Val2064Leu)
c.6184G>C (p.Val2062Leu)
c.6181G>C (p.Val2061Leu)
c.6076G>C (p.Val2026Leu)
c.6073G>C (p.Val2025Leu)
n.6179G>C
n.6120G>C
n.6165G>C
11g.77211200G=CA1984129848MYO7Ac.6100G= (p.Val2034=)
c.3901G=
c.5953G= (p.Val1985=)
c.3526G= (p.Val1176=)
c.5986G= (p.Val1996=)
n.3636G=
n.25+289G=
n.1567G=
c.5983G= (p.Val1995=)
c.6091G= (p.Val2031=)
c.6094G= (p.Val2032=)
c.6067G= (p.Val2023=)
c.6004G= (p.Val2002=)
c.5875G= (p.Val1959=)
c.5863G= (p.Val1955=)
c.5836G= (p.Val1946=)
n.6420G=
n.6394G=
c.6190G= (p.Val2064=)
c.6184G= (p.Val2062=)
c.6181G= (p.Val2061=)
c.6076G= (p.Val2026=)
c.6073G= (p.Val2025=)
n.6179G=
n.6120G=
n.6165G=
11g.77211200G>TCA381935704MYO7Ac.6100G>T (p.Val2034Leu)
c.3901G>T
c.5953G>T (p.Val1985Leu)
c.3526G>T (p.Val1176Leu)
c.5986G>T (p.Val1996Leu)
n.3636G>T
n.25+289G>T
n.1567G>T
c.5983G>T (p.Val1995Leu)
c.6091G>T (p.Val2031Leu)
c.6094G>T (p.Val2032Leu)
c.6067G>T (p.Val2023Leu)
c.6004G>T (p.Val2002Leu)
c.5875G>T (p.Val1959Leu)
c.5863G>T (p.Val1955Leu)
c.5836G>T (p.Val1946Leu)
n.6420G>T
n.6394G>T
c.6190G>T (p.Val2064Leu)
c.6184G>T (p.Val2062Leu)
c.6181G>T (p.Val2061Leu)
c.6076G>T (p.Val2026Leu)
c.6073G>T (p.Val2025Leu)
n.6179G>T
n.6120G>T
n.6165G>T
 dbSNP gnomAD v2 gnomAD v4
11g.77211201T>ACA381935707MYO7Ac.6101T>A (p.Val2034Glu)
c.3902T>A
c.5954T>A (p.Val1985Glu)
c.3527T>A (p.Val1176Glu)
c.5987T>A (p.Val1996Glu)
n.3637T>A
n.25+290T>A
n.1568T>A
c.5984T>A (p.Val1995Glu)
c.6092T>A (p.Val2031Glu)
c.6095T>A (p.Val2032Glu)
c.6068T>A (p.Val2023Glu)
c.6005T>A (p.Val2002Glu)
c.5876T>A (p.Val1959Glu)
c.5864T>A (p.Val1955Glu)
c.5837T>A (p.Val1946Glu)
n.6421T>A
n.6395T>A
c.6191T>A (p.Val2064Glu)
c.6185T>A (p.Val2062Glu)
c.6182T>A (p.Val2061Glu)
c.6077T>A (p.Val2026Glu)
c.6074T>A (p.Val2025Glu)
n.6180T>A
n.6121T>A
n.6166T>A
11g.77211201T>CCA381935710MYO7Ac.6101T>C (p.Val2034Ala)
c.3902T>C
c.5954T>C (p.Val1985Ala)
c.3527T>C (p.Val1176Ala)
c.5987T>C (p.Val1996Ala)
n.3637T>C
n.25+290T>C
n.1568T>C
c.5984T>C (p.Val1995Ala)
c.6092T>C (p.Val2031Ala)
c.6095T>C (p.Val2032Ala)
c.6068T>C (p.Val2023Ala)
c.6005T>C (p.Val2002Ala)
c.5876T>C (p.Val1959Ala)
c.5864T>C (p.Val1955Ala)
c.5837T>C (p.Val1946Ala)
n.6421T>C
n.6395T>C
c.6191T>C (p.Val2064Ala)
c.6185T>C (p.Val2062Ala)
c.6182T>C (p.Val2061Ala)
c.6077T>C (p.Val2026Ala)
c.6074T>C (p.Val2025Ala)
n.6180T>C
n.6121T>C
n.6166T>C
 dbSNP gnomAD v4
11g.77211201T>GCA381935712MYO7Ac.6101T>G (p.Val2034Gly)
c.3902T>G
c.5954T>G (p.Val1985Gly)
c.3527T>G (p.Val1176Gly)
c.5987T>G (p.Val1996Gly)
n.3637T>G
n.25+290T>G
n.1568T>G
c.5984T>G (p.Val1995Gly)
c.6092T>G (p.Val2031Gly)
c.6095T>G (p.Val2032Gly)
c.6068T>G (p.Val2023Gly)
c.6005T>G (p.Val2002Gly)
c.5876T>G (p.Val1959Gly)
c.5864T>G (p.Val1955Gly)
c.5837T>G (p.Val1946Gly)
n.6421T>G
n.6395T>G
c.6191T>G (p.Val2064Gly)
c.6185T>G (p.Val2062Gly)
c.6182T>G (p.Val2061Gly)
c.6077T>G (p.Val2026Gly)
c.6074T>G (p.Val2025Gly)
n.6180T>G
n.6121T>G
n.6166T>G
 dbSNP
11g.77211201T=CA1984129849MYO7Ac.6101T= (p.Val2034=)
c.3902T=
c.5954T= (p.Val1985=)
c.3527T= (p.Val1176=)
c.5987T= (p.Val1996=)
n.3637T=
n.25+290T=
n.1568T=
c.5984T= (p.Val1995=)
c.6092T= (p.Val2031=)
c.6095T= (p.Val2032=)
c.6068T= (p.Val2023=)
c.6005T= (p.Val2002=)
c.5876T= (p.Val1959=)
c.5864T= (p.Val1955=)
c.5837T= (p.Val1946=)
n.6421T=
n.6395T=
c.6191T= (p.Val2064=)
c.6185T= (p.Val2062=)
c.6182T= (p.Val2061=)
c.6077T= (p.Val2026=)
c.6074T= (p.Val2025=)
n.6180T=
n.6121T=
n.6166T=
11g.77211202G>ACA475791918MYO7Ac.6102G>A (p.Val2034=)
c.3903G>A
c.5955G>A (p.Val1985=)
c.3528G>A (p.Val1176=)
c.5988G>A (p.Val1996=)
n.3638G>A
n.25+291G>A
n.1569G>A
c.5985G>A (p.Val1995=)
c.6093G>A (p.Val2031=)
c.6096G>A (p.Val2032=)
c.6069G>A (p.Val2023=)
c.6006G>A (p.Val2002=)
c.5877G>A (p.Val1959=)
c.5865G>A (p.Val1955=)
c.5838G>A (p.Val1946=)
n.6422G>A
n.6396G>A
c.6192G>A (p.Val2064=)
c.6186G>A (p.Val2062=)
c.6183G>A (p.Val2061=)
c.6078G>A (p.Val2026=)
c.6075G>A (p.Val2025=)
n.6181G>A
n.6122G>A
n.6167G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.77211202G>CCA475791919MYO7Ac.6102G>C (p.Val2034=)
c.3903G>C
c.5955G>C (p.Val1985=)
c.3528G>C (p.Val1176=)
c.5988G>C (p.Val1996=)
n.3638G>C
n.25+291G>C
n.1569G>C
c.5985G>C (p.Val1995=)
c.6093G>C (p.Val2031=)
c.6096G>C (p.Val2032=)
c.6069G>C (p.Val2023=)
c.6006G>C (p.Val2002=)
c.5877G>C (p.Val1959=)
c.5865G>C (p.Val1955=)
c.5838G>C (p.Val1946=)
n.6422G>C
n.6396G>C
c.6192G>C (p.Val2064=)
c.6186G>C (p.Val2062=)
c.6183G>C (p.Val2061=)
c.6078G>C (p.Val2026=)
c.6075G>C (p.Val2025=)
n.6181G>C
n.6122G>C
n.6167G>C
11g.77211202G=CA1984129850MYO7Ac.6102G= (p.Val2034=)
c.3903G=
c.5955G= (p.Val1985=)
c.3528G= (p.Val1176=)
c.5988G= (p.Val1996=)
n.3638G=
n.25+291G=
n.1569G=
c.5985G= (p.Val1995=)
c.6093G= (p.Val2031=)
c.6096G= (p.Val2032=)
c.6069G= (p.Val2023=)
c.6006G= (p.Val2002=)
c.5877G= (p.Val1959=)
c.5865G= (p.Val1955=)
c.5838G= (p.Val1946=)
n.6422G=
n.6396G=
c.6192G= (p.Val2064=)
c.6186G= (p.Val2062=)
c.6183G= (p.Val2061=)
c.6078G= (p.Val2026=)
c.6075G= (p.Val2025=)
n.6181G=
n.6122G=
n.6167G=
11g.77211202G>TCA475791921MYO7Ac.6102G>T (p.Val2034=)
c.3903G>T
c.5955G>T (p.Val1985=)
c.3528G>T (p.Val1176=)
c.5988G>T (p.Val1996=)
n.3638G>T
n.25+291G>T
n.1569G>T
c.5985G>T (p.Val1995=)
c.6093G>T (p.Val2031=)
c.6096G>T (p.Val2032=)
c.6069G>T (p.Val2023=)
c.6006G>T (p.Val2002=)
c.5877G>T (p.Val1959=)
c.5865G>T (p.Val1955=)
c.5838G>T (p.Val1946=)
n.6422G>T
n.6396G>T
c.6192G>T (p.Val2064=)
c.6186G>T (p.Val2062=)
c.6183G>T (p.Val2061=)
c.6078G>T (p.Val2026=)
c.6075G>T (p.Val2025=)
n.6181G>T
n.6122G>T
n.6167G>T
 gnomAD v4
11g.77211202_77211206delinsGCTGCCA1984129851MYO7Ac.6102_6106delinsGCTGC (p.Val2034=)
c.3903_3907delinsGCTGC
c.5955_5959delinsGCTGC (p.Val1985=)
c.3528_3532delinsGCTGC (p.Val1176=)
c.5988_5992delinsGCTGC (p.Val1996=)
n.3638_3642delinsGCTGC
n.25+291_25+295delinsGCTGC
n.1569_1573delinsGCTGC
c.5985_5989delinsGCTGC (p.Val1995=)
c.6093_6097delinsGCTGC (p.Val2031=)
c.6096_6100delinsGCTGC (p.Val2032=)
c.6069_6073delinsGCTGC (p.Val2023=)
c.6006_6010delinsGCTGC (p.Val2002=)
c.5877_5881delinsGCTGC (p.Val1959=)
c.5865_5869delinsGCTGC (p.Val1955=)
c.5838_5842delinsGCTGC (p.Val1946=)
n.6422_6426delinsGCTGC
n.6396_6400delinsGCTGC
c.6192_6196delinsGCTGC (p.Val2064=)
c.6186_6190delinsGCTGC (p.Val2062=)
c.6183_6187delinsGCTGC (p.Val2061=)
c.6078_6082delinsGCTGC (p.Val2026=)
c.6075_6079delinsGCTGC (p.Val2025=)
n.6181_6185delinsGCTGC
n.6122_6126delinsGCTGC
n.6167_6171delinsGCTGC
11g.77211203C>ACA381935714MYO7Ac.6103C>A (p.Leu2035Met)
c.3904C>A
c.5956C>A (p.Leu1986Met)
c.3529C>A (p.Leu1177Met)
c.5989C>A (p.Leu1997Met)
n.3639C>A
n.25+292C>A
n.1570C>A
c.5986C>A (p.Leu1996Met)
c.6094C>A (p.Leu2032Met)
c.6097C>A (p.Leu2033Met)
c.6070C>A (p.Leu2024Met)
c.6007C>A (p.Leu2003Met)
c.5878C>A (p.Leu1960Met)
c.5866C>A (p.Leu1956Met)
c.5839C>A (p.Leu1947Met)
n.6423C>A
n.6397C>A
c.6193C>A (p.Leu2065Met)
c.6187C>A (p.Leu2063Met)
c.6184C>A (p.Leu2062Met)
c.6079C>A (p.Leu2027Met)
c.6076C>A (p.Leu2026Met)
n.6182C>A
n.6123C>A
n.6168C>A
 gnomAD v4
11g.77211203C>GCA381935717MYO7Ac.6103C>G (p.Leu2035Val)
c.3904C>G
c.5956C>G (p.Leu1986Val)
c.3529C>G (p.Leu1177Val)
c.5989C>G (p.Leu1997Val)
n.3639C>G
n.25+292C>G
n.1570C>G
c.5986C>G (p.Leu1996Val)
c.6094C>G (p.Leu2032Val)
c.6097C>G (p.Leu2033Val)
c.6070C>G (p.Leu2024Val)
c.6007C>G (p.Leu2003Val)
c.5878C>G (p.Leu1960Val)
c.5866C>G (p.Leu1956Val)
c.5839C>G (p.Leu1947Val)
n.6423C>G
n.6397C>G
c.6193C>G (p.Leu2065Val)
c.6187C>G (p.Leu2063Val)
c.6184C>G (p.Leu2062Val)
c.6079C>G (p.Leu2027Val)
c.6076C>G (p.Leu2026Val)
n.6182C>G
n.6123C>G
n.6168C>G
 gnomAD v4
11g.77211203C>TCA475791922MYO7Ac.6103C>T (p.Leu2035=)
c.3904C>T
c.5956C>T (p.Leu1986=)
c.3529C>T (p.Leu1177=)
c.5989C>T (p.Leu1997=)
n.3639C>T
n.25+292C>T
n.1570C>T
c.5986C>T (p.Leu1996=)
c.6094C>T (p.Leu2032=)
c.6097C>T (p.Leu2033=)
c.6070C>T (p.Leu2024=)
c.6007C>T (p.Leu2003=)
c.5878C>T (p.Leu1960=)
c.5866C>T (p.Leu1956=)
c.5839C>T (p.Leu1947=)
n.6423C>T
n.6397C>T
c.6193C>T (p.Leu2065=)
c.6187C>T (p.Leu2063=)
c.6184C>T (p.Leu2062=)
c.6079C>T (p.Leu2027=)
c.6076C>T (p.Leu2026=)
n.6182C>T
n.6123C>T
n.6168C>T
 gnomAD v4
11g.77211203_77211206delCA918919129MYO7Ac.6103_6106del (p.Leu2035SerfsTer5)
c.3904_3907del
c.5956_5959del (p.Leu1986SerfsTer5)
c.3529_3532del (p.Leu1177SerfsTer5)
c.5989_5992del (p.Leu1997SerfsTer5)
n.3639_3642del
n.25+292_25+295del
n.1570_1573del
c.5986_5989del (p.Leu1996SerfsTer5)
c.6094_6097del (p.Leu2032SerfsTer5)
c.6097_6100del (p.Leu2033SerfsTer5)
c.6070_6073del (p.Leu2024SerfsTer5)
c.6007_6010del (p.Leu2003SerfsTer5)
c.5878_5881del (p.Leu1960SerfsTer5)
c.5866_5869del (p.Leu1956SerfsTer5)
c.5839_5842del (p.Leu1947SerfsTer5)
n.6423_6426del
n.6397_6400del
c.6193_6196del (p.Leu2065SerfsTer5)
c.6187_6190del (p.Leu2063SerfsTer5)
c.6184_6187del (p.Leu2062SerfsTer5)
c.6079_6082del (p.Leu2027SerfsTer5)
c.6076_6079del (p.Leu2026SerfsTer5)
n.6182_6185del
n.6123_6126del
n.6168_6171del
 dbSNP
11g.77211204T>ACA381935724MYO7Ac.6104T>A (p.Leu2035Gln)
c.3905T>A
c.5957T>A (p.Leu1986Gln)
c.3530T>A (p.Leu1177Gln)
c.5990T>A (p.Leu1997Gln)
n.3640T>A
n.25+293T>A
n.1571T>A
c.5987T>A (p.Leu1996Gln)
c.6095T>A (p.Leu2032Gln)
c.6098T>A (p.Leu2033Gln)
c.6071T>A (p.Leu2024Gln)
c.6008T>A (p.Leu2003Gln)
c.5879T>A (p.Leu1960Gln)
c.5867T>A (p.Leu1956Gln)
c.5840T>A (p.Leu1947Gln)
n.6424T>A
n.6398T>A
c.6194T>A (p.Leu2065Gln)
c.6188T>A (p.Leu2063Gln)
c.6185T>A (p.Leu2062Gln)
c.6080T>A (p.Leu2027Gln)
c.6077T>A (p.Leu2026Gln)
n.6183T>A
n.6124T>A
n.6169T>A
 gnomAD v4
11g.77211204T>CCA381935726MYO7Ac.6104T>C (p.Leu2035Pro)
c.3905T>C
c.5957T>C (p.Leu1986Pro)
c.3530T>C (p.Leu1177Pro)
c.5990T>C (p.Leu1997Pro)
n.3640T>C
n.25+293T>C
n.1571T>C
c.5987T>C (p.Leu1996Pro)
c.6095T>C (p.Leu2032Pro)
c.6098T>C (p.Leu2033Pro)
c.6071T>C (p.Leu2024Pro)
c.6008T>C (p.Leu2003Pro)
c.5879T>C (p.Leu1960Pro)
c.5867T>C (p.Leu1956Pro)
c.5840T>C (p.Leu1947Pro)
n.6424T>C
n.6398T>C
c.6194T>C (p.Leu2065Pro)
c.6188T>C (p.Leu2063Pro)
c.6185T>C (p.Leu2062Pro)
c.6080T>C (p.Leu2027Pro)
c.6077T>C (p.Leu2026Pro)
n.6183T>C
n.6124T>C
n.6169T>C
 gnomAD v4
11g.77211204T>GCA381935728MYO7Ac.6104T>G (p.Leu2035Arg)
c.3905T>G
c.5957T>G (p.Leu1986Arg)
c.3530T>G (p.Leu1177Arg)
c.5990T>G (p.Leu1997Arg)
n.3640T>G
n.25+293T>G
n.1571T>G
c.5987T>G (p.Leu1996Arg)
c.6095T>G (p.Leu2032Arg)
c.6098T>G (p.Leu2033Arg)
c.6071T>G (p.Leu2024Arg)
c.6008T>G (p.Leu2003Arg)
c.5879T>G (p.Leu1960Arg)
c.5867T>G (p.Leu1956Arg)
c.5840T>G (p.Leu1947Arg)
n.6424T>G
n.6398T>G
c.6194T>G (p.Leu2065Arg)
c.6188T>G (p.Leu2063Arg)
c.6185T>G (p.Leu2062Arg)
c.6080T>G (p.Leu2027Arg)
c.6077T>G (p.Leu2026Arg)
n.6183T>G
n.6124T>G
n.6169T>G
11g.77211205G>ACA475791927MYO7Ac.6105G>A (p.Leu2035=)
c.3906G>A
c.5958G>A (p.Leu1986=)
c.3531G>A (p.Leu1177=)
c.5991G>A (p.Leu1997=)
n.3641G>A
n.25+294G>A
n.1572G>A
c.5988G>A (p.Leu1996=)
c.6096G>A (p.Leu2032=)
c.6099G>A (p.Leu2033=)
c.6072G>A (p.Leu2024=)
c.6009G>A (p.Leu2003=)
c.5880G>A (p.Leu1960=)
c.5868G>A (p.Leu1956=)
c.5841G>A (p.Leu1947=)
n.6425G>A
n.6399G>A
c.6195G>A (p.Leu2065=)
c.6189G>A (p.Leu2063=)
c.6186G>A (p.Leu2062=)
c.6081G>A (p.Leu2027=)
c.6078G>A (p.Leu2026=)
n.6184G>A
n.6125G>A
n.6170G>A
 ClinVar dbSNP gnomAD v4
11g.77211205G>CCA475791923MYO7Ac.6105G>C (p.Leu2035=)
c.3906G>C
c.5958G>C (p.Leu1986=)
c.3531G>C (p.Leu1177=)
c.5991G>C (p.Leu1997=)
n.3641G>C
n.25+294G>C
n.1572G>C
c.5988G>C (p.Leu1996=)
c.6096G>C (p.Leu2032=)
c.6099G>C (p.Leu2033=)
c.6072G>C (p.Leu2024=)
c.6009G>C (p.Leu2003=)
c.5880G>C (p.Leu1960=)
c.5868G>C (p.Leu1956=)
c.5841G>C (p.Leu1947=)
n.6425G>C
n.6399G>C
c.6195G>C (p.Leu2065=)
c.6189G>C (p.Leu2063=)
c.6186G>C (p.Leu2062=)
c.6081G>C (p.Leu2027=)
c.6078G>C (p.Leu2026=)
n.6184G>C
n.6125G>C
n.6170G>C
11g.77211205G=CA1984129852MYO7Ac.6105G= (p.Leu2035=)
c.3906G=
c.5958G= (p.Leu1986=)
c.3531G= (p.Leu1177=)
c.5991G= (p.Leu1997=)
n.3641G=
n.25+294G=
n.1572G=
c.5988G= (p.Leu1996=)
c.6096G= (p.Leu2032=)
c.6099G= (p.Leu2033=)
c.6072G= (p.Leu2024=)
c.6009G= (p.Leu2003=)
c.5880G= (p.Leu1960=)
c.5868G= (p.Leu1956=)
c.5841G= (p.Leu1947=)
n.6425G=
n.6399G=
c.6195G= (p.Leu2065=)
c.6189G= (p.Leu2063=)
c.6186G= (p.Leu2062=)
c.6081G= (p.Leu2027=)
c.6078G= (p.Leu2026=)
n.6184G=
n.6125G=
n.6170G=
11g.77211205G>TCA475791925MYO7Ac.6105G>T (p.Leu2035=)
c.3906G>T
c.5958G>T (p.Leu1986=)
c.3531G>T (p.Leu1177=)
c.5991G>T (p.Leu1997=)
n.3641G>T
n.25+294G>T
n.1572G>T
c.5988G>T (p.Leu1996=)
c.6096G>T (p.Leu2032=)
c.6099G>T (p.Leu2033=)
c.6072G>T (p.Leu2024=)
c.6009G>T (p.Leu2003=)
c.5880G>T (p.Leu1960=)
c.5868G>T (p.Leu1956=)
c.5841G>T (p.Leu1947=)
n.6425G>T
n.6399G>T
c.6195G>T (p.Leu2065=)
c.6189G>T (p.Leu2063=)
c.6186G>T (p.Leu2062=)
c.6081G>T (p.Leu2027=)
c.6078G>T (p.Leu2026=)
n.6184G>T
n.6125G>T
n.6170G>T
 gnomAD v4
11g.77211206C>ACA381935732MYO7Ac.6106C>A (p.Gln2036Lys)
c.3907C>A
c.5959C>A (p.Gln1987Lys)
c.3532C>A (p.Gln1178Lys)
c.5992C>A (p.Gln1998Lys)
n.3642C>A
n.25+295C>A
n.1573C>A
c.5989C>A (p.Gln1997Lys)
c.6097C>A (p.Gln2033Lys)
c.6100C>A (p.Gln2034Lys)
c.6073C>A (p.Gln2025Lys)
c.6010C>A (p.Gln2004Lys)
c.5881C>A (p.Gln1961Lys)
c.5869C>A (p.Gln1957Lys)
c.5842C>A (p.Gln1948Lys)
n.6426C>A
n.6400C>A
c.6196C>A (p.Gln2066Lys)
c.6190C>A (p.Gln2064Lys)
c.6187C>A (p.Gln2063Lys)
c.6082C>A (p.Gln2028Lys)
c.6079C>A (p.Gln2027Lys)
n.6185C>A
n.6126C>A
n.6171C>A
 gnomAD v4
11g.77211206C=CA1984129853MYO7Ac.6106C= (p.Gln2036=)
c.3907C=
c.5959C= (p.Gln1987=)
c.3532C= (p.Gln1178=)
c.5992C= (p.Gln1998=)
n.3642C=
n.25+295C=
n.1573C=
c.5989C= (p.Gln1997=)
c.6097C= (p.Gln2033=)
c.6100C= (p.Gln2034=)
c.6073C= (p.Gln2025=)
c.6010C= (p.Gln2004=)
c.5881C= (p.Gln1961=)
c.5869C= (p.Gln1957=)
c.5842C= (p.Gln1948=)
n.6426C=
n.6400C=
c.6196C= (p.Gln2066=)
c.6190C= (p.Gln2064=)
c.6187C= (p.Gln2063=)
c.6082C= (p.Gln2028=)
c.6079C= (p.Gln2027=)
n.6185C=
n.6126C=
n.6171C=
11g.77211206C>GCA381935734MYO7Ac.6106C>G (p.Gln2036Glu)
c.3907C>G
c.5959C>G (p.Gln1987Glu)
c.3532C>G (p.Gln1178Glu)
c.5992C>G (p.Gln1998Glu)
n.3642C>G
n.25+295C>G
n.1573C>G
c.5989C>G (p.Gln1997Glu)
c.6097C>G (p.Gln2033Glu)
c.6100C>G (p.Gln2034Glu)
c.6073C>G (p.Gln2025Glu)
c.6010C>G (p.Gln2004Glu)
c.5881C>G (p.Gln1961Glu)
c.5869C>G (p.Gln1957Glu)
c.5842C>G (p.Gln1948Glu)
n.6426C>G
n.6400C>G
c.6196C>G (p.Gln2066Glu)
c.6190C>G (p.Gln2064Glu)
c.6187C>G (p.Gln2063Glu)
c.6082C>G (p.Gln2028Glu)
c.6079C>G (p.Gln2027Glu)
n.6185C>G
n.6126C>G
n.6171C>G
11g.77211206C>TCA381935736MYO7Ac.6106C>T (p.Gln2036Ter)
c.3907C>T
c.5959C>T (p.Gln1987Ter)
c.3532C>T (p.Gln1178Ter)
c.5992C>T (p.Gln1998Ter)
n.3642C>T
n.25+295C>T
n.1573C>T
c.5989C>T (p.Gln1997Ter)
c.6097C>T (p.Gln2033Ter)
c.6100C>T (p.Gln2034Ter)
c.6073C>T (p.Gln2025Ter)
c.6010C>T (p.Gln2004Ter)
c.5881C>T (p.Gln1961Ter)
c.5869C>T (p.Gln1957Ter)
c.5842C>T (p.Gln1948Ter)
n.6426C>T
n.6400C>T
c.6196C>T (p.Gln2066Ter)
c.6190C>T (p.Gln2064Ter)
c.6187C>T (p.Gln2063Ter)
c.6082C>T (p.Gln2028Ter)
c.6079C>T (p.Gln2027Ter)
n.6185C>T
n.6126C>T
n.6171C>T
 ClinVar dbSNP gnomAD v4
11g.77211207A=CA1984129854MYO7Ac.6107A= (p.Gln2036=)
c.3908A=
c.5960A= (p.Gln1987=)
c.3533A= (p.Gln1178=)
c.5993A= (p.Gln1998=)
n.3643A=
n.25+296A=
n.1574A=
c.5990A= (p.Gln1997=)
c.6098A= (p.Gln2033=)
c.6101A= (p.Gln2034=)
c.6074A= (p.Gln2025=)
c.6011A= (p.Gln2004=)
c.5882A= (p.Gln1961=)
c.5870A= (p.Gln1957=)
c.5843A= (p.Gln1948=)
n.6427A=
n.6401A=
c.6197A= (p.Gln2066=)
c.6191A= (p.Gln2064=)
c.6188A= (p.Gln2063=)
c.6083A= (p.Gln2028=)
c.6080A= (p.Gln2027=)
n.6186A=
n.6127A=
n.6172A=
11g.77211207A>CCA381935740MYO7Ac.6107A>C (p.Gln2036Pro)
c.3908A>C
c.5960A>C (p.Gln1987Pro)
c.3533A>C (p.Gln1178Pro)
c.5993A>C (p.Gln1998Pro)
n.3643A>C
n.25+296A>C
n.1574A>C
c.5990A>C (p.Gln1997Pro)
c.6098A>C (p.Gln2033Pro)
c.6101A>C (p.Gln2034Pro)
c.6074A>C (p.Gln2025Pro)
c.6011A>C (p.Gln2004Pro)
c.5882A>C (p.Gln1961Pro)
c.5870A>C (p.Gln1957Pro)
c.5843A>C (p.Gln1948Pro)
n.6427A>C
n.6401A>C
c.6197A>C (p.Gln2066Pro)
c.6191A>C (p.Gln2064Pro)
c.6188A>C (p.Gln2063Pro)
c.6083A>C (p.Gln2028Pro)
c.6080A>C (p.Gln2027Pro)
n.6186A>C
n.6127A>C
n.6172A>C
11g.77211207A>GCA381935742MYO7Ac.6107A>G (p.Gln2036Arg)
c.3908A>G
c.5960A>G (p.Gln1987Arg)
c.3533A>G (p.Gln1178Arg)
c.5993A>G (p.Gln1998Arg)
n.3643A>G
n.25+296A>G
n.1574A>G
c.5990A>G (p.Gln1997Arg)
c.6098A>G (p.Gln2033Arg)
c.6101A>G (p.Gln2034Arg)
c.6074A>G (p.Gln2025Arg)
c.6011A>G (p.Gln2004Arg)
c.5882A>G (p.Gln1961Arg)
c.5870A>G (p.Gln1957Arg)
c.5843A>G (p.Gln1948Arg)
n.6427A>G
n.6401A>G
c.6197A>G (p.Gln2066Arg)
c.6191A>G (p.Gln2064Arg)
c.6188A>G (p.Gln2063Arg)
c.6083A>G (p.Gln2028Arg)
c.6080A>G (p.Gln2027Arg)
n.6186A>G
n.6127A>G
n.6172A>G
 gnomAD v4
11g.77211207A>TCA381935744MYO7Ac.6107A>T (p.Gln2036Leu)
c.3908A>T
c.5960A>T (p.Gln1987Leu)
c.3533A>T (p.Gln1178Leu)
c.5993A>T (p.Gln1998Leu)
n.3643A>T
n.25+296A>T
n.1574A>T
c.5990A>T (p.Gln1997Leu)
c.6098A>T (p.Gln2033Leu)
c.6101A>T (p.Gln2034Leu)
c.6074A>T (p.Gln2025Leu)
c.6011A>T (p.Gln2004Leu)
c.5882A>T (p.Gln1961Leu)
c.5870A>T (p.Gln1957Leu)
c.5843A>T (p.Gln1948Leu)
n.6427A>T
n.6401A>T
c.6197A>T (p.Gln2066Leu)
c.6191A>T (p.Gln2064Leu)
c.6188A>T (p.Gln2063Leu)
c.6083A>T (p.Gln2028Leu)
c.6080A>T (p.Gln2027Leu)
n.6186A>T
n.6127A>T
n.6172A>T
 dbSNP
11g.77211208G>ACA6198937MYO7Ac.6108G>A (p.Gln2036=)
c.3909G>A
c.5961G>A (p.Gln1987=)
c.3534G>A (p.Gln1178=)
c.5994G>A (p.Gln1998=)
n.3644G>A
n.25+297G>A
n.1575G>A
c.5991G>A (p.Gln1997=)
c.6099G>A (p.Gln2033=)
c.6102G>A (p.Gln2034=)
c.6075G>A (p.Gln2025=)
c.6012G>A (p.Gln2004=)
c.5883G>A (p.Gln1961=)
c.5871G>A (p.Gln1957=)
c.5844G>A (p.Gln1948=)
n.6428G>A
n.6402G>A
c.6198G>A (p.Gln2066=)
c.6192G>A (p.Gln2064=)
c.6189G>A (p.Gln2063=)
c.6084G>A (p.Gln2028=)
c.6081G>A (p.Gln2027=)
n.6187G>A
n.6128G>A
n.6173G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.77211208G>CCA381935748MYO7Ac.6108G>C (p.Gln2036His)
c.3909G>C
c.5961G>C (p.Gln1987His)
c.3534G>C (p.Gln1178His)
c.5994G>C (p.Gln1998His)
n.3644G>C
n.25+297G>C
n.1575G>C
c.5991G>C (p.Gln1997His)
c.6099G>C (p.Gln2033His)
c.6102G>C (p.Gln2034His)
c.6075G>C (p.Gln2025His)
c.6012G>C (p.Gln2004His)
c.5883G>C (p.Gln1961His)
c.5871G>C (p.Gln1957His)
c.5844G>C (p.Gln1948His)
n.6428G>C
n.6402G>C
c.6198G>C (p.Gln2066His)
c.6192G>C (p.Gln2064His)
c.6189G>C (p.Gln2063His)
c.6084G>C (p.Gln2028His)
c.6081G>C (p.Gln2027His)
n.6187G>C
n.6128G>C
n.6173G>C
 gnomAD v4
11g.77211208G=CA1984129855MYO7Ac.6108G= (p.Gln2036=)
c.3909G=
c.5961G= (p.Gln1987=)
c.3534G= (p.Gln1178=)
c.5994G= (p.Gln1998=)
n.3644G=
n.25+297G=
n.1575G=
c.5991G= (p.Gln1997=)
c.6099G= (p.Gln2033=)
c.6102G= (p.Gln2034=)
c.6075G= (p.Gln2025=)
c.6012G= (p.Gln2004=)
c.5883G= (p.Gln1961=)
c.5871G= (p.Gln1957=)
c.5844G= (p.Gln1948=)
n.6428G=
n.6402G=
c.6198G= (p.Gln2066=)
c.6192G= (p.Gln2064=)
c.6189G= (p.Gln2063=)
c.6084G= (p.Gln2028=)
c.6081G= (p.Gln2027=)
n.6187G=
n.6128G=
n.6173G=
11g.77211208G>TCA381935750MYO7Ac.6108G>T (p.Gln2036His)
c.3909G>T
c.5961G>T (p.Gln1987His)
c.3534G>T (p.Gln1178His)
c.5994G>T (p.Gln1998His)
n.3644G>T
n.25+297G>T
n.1575G>T
c.5991G>T (p.Gln1997His)
c.6099G>T (p.Gln2033His)
c.6102G>T (p.Gln2034His)
c.6075G>T (p.Gln2025His)
c.6012G>T (p.Gln2004His)
c.5883G>T (p.Gln1961His)
c.5871G>T (p.Gln1957His)
c.5844G>T (p.Gln1948His)
n.6428G>T
n.6402G>T
c.6198G>T (p.Gln2066His)
c.6192G>T (p.Gln2064His)
c.6189G>T (p.Gln2063His)
c.6084G>T (p.Gln2028His)
c.6081G>T (p.Gln2027His)
n.6187G>T
n.6128G>T
n.6173G>T
 gnomAD v4
11g.77211209C>ACA381935755MYO7Ac.6109C>A (p.Leu2037Met)
c.3910C>A
c.5962C>A (p.Leu1988Met)
c.3535C>A (p.Leu1179Met)
c.5995C>A (p.Leu1999Met)
n.3645C>A
n.25+298C>A
n.1576C>A
c.5992C>A (p.Leu1998Met)
c.6100C>A (p.Leu2034Met)
c.6103C>A (p.Leu2035Met)
c.6076C>A (p.Leu2026Met)
c.6013C>A (p.Leu2005Met)
c.5884C>A (p.Leu1962Met)
c.5872C>A (p.Leu1958Met)
c.5845C>A (p.Leu1949Met)
n.6429C>A
n.6403C>A
c.6199C>A (p.Leu2067Met)
c.6193C>A (p.Leu2065Met)
c.6190C>A (p.Leu2064Met)
c.6085C>A (p.Leu2029Met)
c.6082C>A (p.Leu2028Met)
n.6188C>A
n.6129C>A
n.6174C>A
 gnomAD v4
11g.77211209C>GCA381935753MYO7Ac.6109C>G (p.Leu2037Val)
c.3910C>G
c.5962C>G (p.Leu1988Val)
c.3535C>G (p.Leu1179Val)
c.5995C>G (p.Leu1999Val)
n.3645C>G
n.25+298C>G
n.1576C>G
c.5992C>G (p.Leu1998Val)
c.6100C>G (p.Leu2034Val)
c.6103C>G (p.Leu2035Val)
c.6076C>G (p.Leu2026Val)
c.6013C>G (p.Leu2005Val)
c.5884C>G (p.Leu1962Val)
c.5872C>G (p.Leu1958Val)
c.5845C>G (p.Leu1949Val)
n.6429C>G
n.6403C>G
c.6199C>G (p.Leu2067Val)
c.6193C>G (p.Leu2065Val)
c.6190C>G (p.Leu2064Val)
c.6085C>G (p.Leu2029Val)
c.6082C>G (p.Leu2028Val)
n.6188C>G
n.6129C>G
n.6174C>G
11g.77211209C>TCA475791932MYO7Ac.6109C>T (p.Leu2037=)
c.3910C>T
c.5962C>T (p.Leu1988=)
c.3535C>T (p.Leu1179=)
c.5995C>T (p.Leu1999=)
n.3645C>T
n.25+298C>T
n.1576C>T
c.5992C>T (p.Leu1998=)
c.6100C>T (p.Leu2034=)
c.6103C>T (p.Leu2035=)
c.6076C>T (p.Leu2026=)
c.6013C>T (p.Leu2005=)
c.5884C>T (p.Leu1962=)
c.5872C>T (p.Leu1958=)
c.5845C>T (p.Leu1949=)
n.6429C>T
n.6403C>T
c.6199C>T (p.Leu2067=)
c.6193C>T (p.Leu2065=)
c.6190C>T (p.Leu2064=)
c.6085C>T (p.Leu2029=)
c.6082C>T (p.Leu2028=)
n.6188C>T
n.6129C>T
n.6174C>T
 gnomAD v4
11g.77211210T>ACA381935758MYO7Ac.6110T>A (p.Leu2037Gln)
c.3911T>A
c.5963T>A (p.Leu1988Gln)
c.3536T>A (p.Leu1179Gln)
c.5996T>A (p.Leu1999Gln)
n.3646T>A
n.25+299T>A
n.1577T>A
c.5993T>A (p.Leu1998Gln)
c.6101T>A (p.Leu2034Gln)
c.6104T>A (p.Leu2035Gln)
c.6077T>A (p.Leu2026Gln)
c.6014T>A (p.Leu2005Gln)
c.5885T>A (p.Leu1962Gln)
c.5873T>A (p.Leu1958Gln)
c.5846T>A (p.Leu1949Gln)
n.6430T>A
n.6404T>A
c.6200T>A (p.Leu2067Gln)
c.6194T>A (p.Leu2065Gln)
c.6191T>A (p.Leu2064Gln)
c.6086T>A (p.Leu2029Gln)
c.6083T>A (p.Leu2028Gln)
n.6189T>A
n.6130T>A
n.6175T>A
11g.77211210T>CCA381935763MYO7Ac.6110T>C (p.Leu2037Pro)
c.3911T>C
c.5963T>C (p.Leu1988Pro)
c.3536T>C (p.Leu1179Pro)
c.5996T>C (p.Leu1999Pro)
n.3646T>C
n.25+299T>C
n.1577T>C
c.5993T>C (p.Leu1998Pro)
c.6101T>C (p.Leu2034Pro)
c.6104T>C (p.Leu2035Pro)
c.6077T>C (p.Leu2026Pro)
c.6014T>C (p.Leu2005Pro)
c.5885T>C (p.Leu1962Pro)
c.5873T>C (p.Leu1958Pro)
c.5846T>C (p.Leu1949Pro)
n.6430T>C
n.6404T>C
c.6200T>C (p.Leu2067Pro)
c.6194T>C (p.Leu2065Pro)
c.6191T>C (p.Leu2064Pro)
c.6086T>C (p.Leu2029Pro)
c.6083T>C (p.Leu2028Pro)
n.6189T>C
n.6130T>C
n.6175T>C
11g.77211210T>GCA381935760MYO7Ac.6110T>G (p.Leu2037Arg)
c.3911T>G
c.5963T>G (p.Leu1988Arg)
c.3536T>G (p.Leu1179Arg)
c.5996T>G (p.Leu1999Arg)
n.3646T>G
n.25+299T>G
n.1577T>G
c.5993T>G (p.Leu1998Arg)
c.6101T>G (p.Leu2034Arg)
c.6104T>G (p.Leu2035Arg)
c.6077T>G (p.Leu2026Arg)
c.6014T>G (p.Leu2005Arg)
c.5885T>G (p.Leu1962Arg)
c.5873T>G (p.Leu1958Arg)
c.5846T>G (p.Leu1949Arg)
n.6430T>G
n.6404T>G
c.6200T>G (p.Leu2067Arg)
c.6194T>G (p.Leu2065Arg)
c.6191T>G (p.Leu2064Arg)
c.6086T>G (p.Leu2029Arg)
c.6083T>G (p.Leu2028Arg)
n.6189T>G
n.6130T>G
n.6175T>G
11g.77211211G>ACA6198938MYO7Ac.6111G>A (p.Leu2037=)
c.3912G>A
c.5964G>A (p.Leu1988=)
c.3537G>A (p.Leu1179=)
c.5997G>A (p.Leu1999=)
n.3647G>A
n.25+300G>A
n.1578G>A
c.5994G>A (p.Leu1998=)
c.6102G>A (p.Leu2034=)
c.6105G>A (p.Leu2035=)
c.6078G>A (p.Leu2026=)
c.6015G>A (p.Leu2005=)
c.5886G>A (p.Leu1962=)
c.5874G>A (p.Leu1958=)
c.5847G>A (p.Leu1949=)
n.6431G>A
n.6405G>A
c.6201G>A (p.Leu2067=)
c.6195G>A (p.Leu2065=)
c.6192G>A (p.Leu2064=)
c.6087G>A (p.Leu2029=)
c.6084G>A (p.Leu2028=)
n.6190G>A
n.6131G>A
n.6176G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77211211G>CCA475791936MYO7Ac.6111G>C (p.Leu2037=)
c.3912G>C
c.5964G>C (p.Leu1988=)
c.3537G>C (p.Leu1179=)
c.5997G>C (p.Leu1999=)
n.3647G>C
n.25+300G>C
n.1578G>C
c.5994G>C (p.Leu1998=)
c.6102G>C (p.Leu2034=)
c.6105G>C (p.Leu2035=)
c.6078G>C (p.Leu2026=)
c.6015G>C (p.Leu2005=)
c.5886G>C (p.Leu1962=)
c.5874G>C (p.Leu1958=)
c.5847G>C (p.Leu1949=)
n.6431G>C
n.6405G>C
c.6201G>C (p.Leu2067=)
c.6195G>C (p.Leu2065=)
c.6192G>C (p.Leu2064=)
c.6087G>C (p.Leu2029=)
c.6084G>C (p.Leu2028=)
n.6190G>C
n.6131G>C
n.6176G>C
11g.77211211G=CA1984129856MYO7Ac.6111G= (p.Leu2037=)
c.3912G=
c.5964G= (p.Leu1988=)
c.3537G= (p.Leu1179=)
c.5997G= (p.Leu1999=)
n.3647G=
n.25+300G=
n.1578G=
c.5994G= (p.Leu1998=)
c.6102G= (p.Leu2034=)
c.6105G= (p.Leu2035=)
c.6078G= (p.Leu2026=)
c.6015G= (p.Leu2005=)
c.5886G= (p.Leu1962=)
c.5874G= (p.Leu1958=)
c.5847G= (p.Leu1949=)
n.6431G=
n.6405G=
c.6201G= (p.Leu2067=)
c.6195G= (p.Leu2065=)
c.6192G= (p.Leu2064=)
c.6087G= (p.Leu2029=)
c.6084G= (p.Leu2028=)
n.6190G=
n.6131G=
n.6176G=
11g.77211211G>TCA475791937MYO7Ac.6111G>T (p.Leu2037=)
c.3912G>T
c.5964G>T (p.Leu1988=)
c.3537G>T (p.Leu1179=)
c.5997G>T (p.Leu1999=)
n.3647G>T
n.25+300G>T
n.1578G>T
c.5994G>T (p.Leu1998=)
c.6102G>T (p.Leu2034=)
c.6105G>T (p.Leu2035=)
c.6078G>T (p.Leu2026=)
c.6015G>T (p.Leu2005=)
c.5886G>T (p.Leu1962=)
c.5874G>T (p.Leu1958=)
c.5847G>T (p.Leu1949=)
n.6431G>T
n.6405G>T
c.6201G>T (p.Leu2067=)
c.6195G>T (p.Leu2065=)
c.6192G>T (p.Leu2064=)
c.6087G>T (p.Leu2029=)
c.6084G>T (p.Leu2028=)
n.6190G>T
n.6131G>T
n.6176G>T
11g.77211215delCA2615262574MYO7Ac.6115del (p.Ala2039ArgfsTer2)
c.3916del
c.5968del (p.Ala1990ArgfsTer2)
c.3541del (p.Ala1181ArgfsTer2)
c.6001del (p.Ala2001ArgfsTer2)
n.3651del
n.25+304del
n.1582del
c.5998del (p.Ala2000ArgfsTer2)
c.6106del (p.Ala2036ArgfsTer2)
c.6109del (p.Ala2037ArgfsTer2)
c.6082del (p.Ala2028ArgfsTer2)
c.6019del (p.Ala2007ArgfsTer2)
c.5890del (p.Ala1964ArgfsTer2)
c.5878del (p.Ala1960ArgfsTer2)
c.5851del (p.Ala1951ArgfsTer2)
n.6435del
n.6409del
c.6205del (p.Ala2069ArgfsTer2)
c.6199del (p.Ala2067ArgfsTer2)
c.6196del (p.Ala2066ArgfsTer2)
c.6091del (p.Ala2031ArgfsTer2)
c.6088del (p.Ala2030ArgfsTer2)
n.6194del
n.6135del
n.6180del
 gnomAD v4
11g.77211214_77211215delCA2574931907MYO7Ac.6114_6115del (p.Leu2040AspfsTer?)
c.3915_3916del
c.5967_5968del (p.Leu1991AspfsTer?)
c.3540_3541del (p.Leu1182AspfsTer?)
c.6000_6001del (p.Leu2002AspfsTer?)
n.3650_3651del
n.25+303_25+304del
n.1581_1582del
c.5997_5998del (p.Leu2001AspfsTer?)
c.6105_6106del (p.Leu2037AspfsTer?)
c.6108_6109del (p.Leu2038AspfsTer?)
c.6081_6082del (p.Leu2029AspfsTer?)
c.6018_6019del (p.Leu2008AspfsTer?)
c.5889_5890del (p.Leu1965AspfsTer?)
c.5877_5878del (p.Leu1961AspfsTer?)
c.5850_5851del (p.Leu1952AspfsTer?)
n.6434_6435del
n.6408_6409del
c.6204_6205del (p.Leu2070AspfsTer?)
c.6198_6199del (p.Leu2068AspfsTer?)
c.6195_6196del (p.Leu2067AspfsTer?)
c.6090_6091del (p.Leu2032AspfsTer?)
c.6087_6088del (p.Leu2031AspfsTer?)
n.6193_6194del
n.6134_6135del
n.6179_6180del
 ClinVar
11g.77211212G>ACA381935765MYO7Ac.6112G>A (p.Gly2038Arg)
c.3913G>A
c.5965G>A (p.Gly1989Arg)
c.3538G>A (p.Gly1180Arg)
c.5998G>A (p.Gly2000Arg)
n.3648G>A
n.25+301G>A
n.1579G>A
c.5995G>A (p.Gly1999Arg)
c.6103G>A (p.Gly2035Arg)
c.6106G>A (p.Gly2036Arg)
c.6079G>A (p.Gly2027Arg)
c.6016G>A (p.Gly2006Arg)
c.5887G>A (p.Gly1963Arg)
c.5875G>A (p.Gly1959Arg)
c.5848G>A (p.Gly1950Arg)
n.6432G>A
n.6406G>A
c.6202G>A (p.Gly2068Arg)
c.6196G>A (p.Gly2066Arg)
c.6193G>A (p.Gly2065Arg)
c.6088G>A (p.Gly2030Arg)
c.6085G>A (p.Gly2029Arg)
n.6191G>A
n.6132G>A
n.6177G>A
 dbSNP gnomAD v2 gnomAD v4
11g.77211212G>CCA381935768MYO7Ac.6112G>C (p.Gly2038Arg)
c.3913G>C
c.5965G>C (p.Gly1989Arg)
c.3538G>C (p.Gly1180Arg)
c.5998G>C (p.Gly2000Arg)
n.3648G>C
n.25+301G>C
n.1579G>C
c.5995G>C (p.Gly1999Arg)
c.6103G>C (p.Gly2035Arg)
c.6106G>C (p.Gly2036Arg)
c.6079G>C (p.Gly2027Arg)
c.6016G>C (p.Gly2006Arg)
c.5887G>C (p.Gly1963Arg)
c.5875G>C (p.Gly1959Arg)
c.5848G>C (p.Gly1950Arg)
n.6432G>C
n.6406G>C
c.6202G>C (p.Gly2068Arg)
c.6196G>C (p.Gly2066Arg)
c.6193G>C (p.Gly2065Arg)
c.6088G>C (p.Gly2030Arg)
c.6085G>C (p.Gly2029Arg)
n.6191G>C
n.6132G>C
n.6177G>C
11g.77211212G=CA1984129857MYO7Ac.6112G= (p.Gly2038=)
c.3913G=
c.5965G= (p.Gly1989=)
c.3538G= (p.Gly1180=)
c.5998G= (p.Gly2000=)
n.3648G=
n.25+301G=
n.1579G=
c.5995G= (p.Gly1999=)
c.6103G= (p.Gly2035=)
c.6106G= (p.Gly2036=)
c.6079G= (p.Gly2027=)
c.6016G= (p.Gly2006=)
c.5887G= (p.Gly1963=)
c.5875G= (p.Gly1959=)
c.5848G= (p.Gly1950=)
n.6432G=
n.6406G=
c.6202G= (p.Gly2068=)
c.6196G= (p.Gly2066=)
c.6193G= (p.Gly2065=)
c.6088G= (p.Gly2030=)
c.6085G= (p.Gly2029=)
n.6191G=
n.6132G=
n.6177G=
11g.77211212G>TCA381935770MYO7Ac.6112G>T (p.Gly2038Trp)
c.3913G>T
c.5965G>T (p.Gly1989Trp)
c.3538G>T (p.Gly1180Trp)
c.5998G>T (p.Gly2000Trp)
n.3648G>T
n.25+301G>T
n.1579G>T
c.5995G>T (p.Gly1999Trp)
c.6103G>T (p.Gly2035Trp)
c.6106G>T (p.Gly2036Trp)
c.6079G>T (p.Gly2027Trp)
c.6016G>T (p.Gly2006Trp)
c.5887G>T (p.Gly1963Trp)
c.5875G>T (p.Gly1959Trp)
c.5848G>T (p.Gly1950Trp)
n.6432G>T
n.6406G>T
c.6202G>T (p.Gly2068Trp)
c.6196G>T (p.Gly2066Trp)
c.6193G>T (p.Gly2065Trp)
c.6088G>T (p.Gly2030Trp)
c.6085G>T (p.Gly2029Trp)
n.6191G>T
n.6132G>T
n.6177G>T
 gnomAD v4
11g.77211213G>ACA381935774MYO7Ac.6113G>A (p.Gly2038Glu)
c.3914G>A
c.5966G>A (p.Gly1989Glu)
c.3539G>A (p.Gly1180Glu)
c.5999G>A (p.Gly2000Glu)
n.3649G>A
n.25+302G>A
n.1580G>A
c.5996G>A (p.Gly1999Glu)
c.6104G>A (p.Gly2035Glu)
c.6107G>A (p.Gly2036Glu)
c.6080G>A (p.Gly2027Glu)
c.6017G>A (p.Gly2006Glu)
c.5888G>A (p.Gly1963Glu)
c.5876G>A (p.Gly1959Glu)
c.5849G>A (p.Gly1950Glu)
n.6433G>A
n.6407G>A
c.6203G>A (p.Gly2068Glu)
c.6197G>A (p.Gly2066Glu)
c.6194G>A (p.Gly2065Glu)
c.6089G>A (p.Gly2030Glu)
c.6086G>A (p.Gly2029Glu)
n.6192G>A
n.6133G>A
n.6178G>A
 dbSNP gnomAD v3 gnomAD v4
11g.77211213G>CCA381935776MYO7Ac.6113G>C (p.Gly2038Ala)
c.3914G>C
c.5966G>C (p.Gly1989Ala)
c.3539G>C (p.Gly1180Ala)
c.5999G>C (p.Gly2000Ala)
n.3649G>C
n.25+302G>C
n.1580G>C
c.5996G>C (p.Gly1999Ala)
c.6104G>C (p.Gly2035Ala)
c.6107G>C (p.Gly2036Ala)
c.6080G>C (p.Gly2027Ala)
c.6017G>C (p.Gly2006Ala)
c.5888G>C (p.Gly1963Ala)
c.5876G>C (p.Gly1959Ala)
c.5849G>C (p.Gly1950Ala)
n.6433G>C
n.6407G>C
c.6203G>C (p.Gly2068Ala)
c.6197G>C (p.Gly2066Ala)
c.6194G>C (p.Gly2065Ala)
c.6089G>C (p.Gly2030Ala)
c.6086G>C (p.Gly2029Ala)
n.6192G>C
n.6133G>C
n.6178G>C
11g.77211213G=CA1984129858MYO7Ac.6113G= (p.Gly2038=)
c.3914G=
c.5966G= (p.Gly1989=)
c.3539G= (p.Gly1180=)
c.5999G= (p.Gly2000=)
n.3649G=
n.25+302G=
n.1580G=
c.5996G= (p.Gly1999=)
c.6104G= (p.Gly2035=)
c.6107G= (p.Gly2036=)
c.6080G= (p.Gly2027=)
c.6017G= (p.Gly2006=)
c.5888G= (p.Gly1963=)
c.5876G= (p.Gly1959=)
c.5849G= (p.Gly1950=)
n.6433G=
n.6407G=
c.6203G= (p.Gly2068=)
c.6197G= (p.Gly2066=)
c.6194G= (p.Gly2065=)
c.6089G= (p.Gly2030=)
c.6086G= (p.Gly2029=)
n.6192G=
n.6133G=
n.6178G=
11g.77211213G>TCA381935778MYO7Ac.6113G>T (p.Gly2038Val)
c.3914G>T
c.5966G>T (p.Gly1989Val)
c.3539G>T (p.Gly1180Val)
c.5999G>T (p.Gly2000Val)
n.3649G>T
n.25+302G>T
n.1580G>T
c.5996G>T (p.Gly1999Val)
c.6104G>T (p.Gly2035Val)
c.6107G>T (p.Gly2036Val)
c.6080G>T (p.Gly2027Val)
c.6017G>T (p.Gly2006Val)
c.5888G>T (p.Gly1963Val)
c.5876G>T (p.Gly1959Val)
c.5849G>T (p.Gly1950Val)
n.6433G>T
n.6407G>T
c.6203G>T (p.Gly2068Val)
c.6197G>T (p.Gly2066Val)
c.6194G>T (p.Gly2065Val)
c.6089G>T (p.Gly2030Val)
c.6086G>T (p.Gly2029Val)
n.6192G>T
n.6133G>T
n.6178G>T
 gnomAD v4
11g.77211214G>ACA224827699MYO7Ac.6114G>A (p.Gly2038=)
c.3915G>A
c.5967G>A (p.Gly1989=)
c.3540G>A (p.Gly1180=)
c.6000G>A (p.Gly2000=)
n.3650G>A
n.25+303G>A
n.1581G>A
c.5997G>A (p.Gly1999=)
c.6105G>A (p.Gly2035=)
c.6108G>A (p.Gly2036=)
c.6081G>A (p.Gly2027=)
c.6018G>A (p.Gly2006=)
c.5889G>A (p.Gly1963=)
c.5877G>A (p.Gly1959=)
c.5850G>A (p.Gly1950=)
n.6434G>A
n.6408G>A
c.6204G>A (p.Gly2068=)
c.6198G>A (p.Gly2066=)
c.6195G>A (p.Gly2065=)
c.6090G>A (p.Gly2030=)
c.6087G>A (p.Gly2029=)
n.6193G>A
n.6134G>A
n.6179G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77211214G>CCA475791938MYO7Ac.6114G>C (p.Gly2038=)
c.3915G>C
c.5967G>C (p.Gly1989=)
c.3540G>C (p.Gly1180=)
c.6000G>C (p.Gly2000=)
n.3650G>C
n.25+303G>C
n.1581G>C
c.5997G>C (p.Gly1999=)
c.6105G>C (p.Gly2035=)
c.6108G>C (p.Gly2036=)
c.6081G>C (p.Gly2027=)
c.6018G>C (p.Gly2006=)
c.5889G>C (p.Gly1963=)
c.5877G>C (p.Gly1959=)
c.5850G>C (p.Gly1950=)
n.6434G>C
n.6408G>C
c.6204G>C (p.Gly2068=)
c.6198G>C (p.Gly2066=)
c.6195G>C (p.Gly2065=)
c.6090G>C (p.Gly2030=)
c.6087G>C (p.Gly2029=)
n.6193G>C
n.6134G>C
n.6179G>C
11g.77211214G=CA1984129859MYO7Ac.6114G= (p.Gly2038=)
c.3915G=
c.5967G= (p.Gly1989=)
c.3540G= (p.Gly1180=)
c.6000G= (p.Gly2000=)
n.3650G=
n.25+303G=
n.1581G=
c.5997G= (p.Gly1999=)
c.6105G= (p.Gly2035=)
c.6108G= (p.Gly2036=)
c.6081G= (p.Gly2027=)
c.6018G= (p.Gly2006=)
c.5889G= (p.Gly1963=)
c.5877G= (p.Gly1959=)
c.5850G= (p.Gly1950=)
n.6434G=
n.6408G=
c.6204G= (p.Gly2068=)
c.6198G= (p.Gly2066=)
c.6195G= (p.Gly2065=)
c.6090G= (p.Gly2030=)
c.6087G= (p.Gly2029=)
n.6193G=
n.6134G=
n.6179G=
11g.77211214G>TCA475791940MYO7Ac.6114G>T (p.Gly2038=)
c.3915G>T
c.5967G>T (p.Gly1989=)
c.3540G>T (p.Gly1180=)
c.6000G>T (p.Gly2000=)
n.3650G>T
n.25+303G>T
n.1581G>T
c.5997G>T (p.Gly1999=)
c.6105G>T (p.Gly2035=)
c.6108G>T (p.Gly2036=)
c.6081G>T (p.Gly2027=)
c.6018G>T (p.Gly2006=)
c.5889G>T (p.Gly1963=)
c.5877G>T (p.Gly1959=)
c.5850G>T (p.Gly1950=)
n.6434G>T
n.6408G>T
c.6204G>T (p.Gly2068=)
c.6198G>T (p.Gly2066=)
c.6195G>T (p.Gly2065=)
c.6090G>T (p.Gly2030=)
c.6087G>T (p.Gly2029=)
n.6193G>T
n.6134G>T
n.6179G>T
 gnomAD v4
11g.77211215G>ACA381935782MYO7Ac.6115G>A (p.Ala2039Thr)
c.3916G>A
c.5968G>A (p.Ala1990Thr)
c.3541G>A (p.Ala1181Thr)
c.6001G>A (p.Ala2001Thr)
n.3651G>A
n.25+304G>A
n.1582G>A
c.5998G>A (p.Ala2000Thr)
c.6106G>A (p.Ala2036Thr)
c.6109G>A (p.Ala2037Thr)
c.6082G>A (p.Ala2028Thr)
c.6019G>A (p.Ala2007Thr)
c.5890G>A (p.Ala1964Thr)
c.5878G>A (p.Ala1960Thr)
c.5851G>A (p.Ala1951Thr)
n.6435G>A
n.6409G>A
c.6205G>A (p.Ala2069Thr)
c.6199G>A (p.Ala2067Thr)
c.6196G>A (p.Ala2066Thr)
c.6091G>A (p.Ala2031Thr)
c.6088G>A (p.Ala2030Thr)
n.6194G>A
n.6135G>A
n.6180G>A
 dbSNP gnomAD v4
11g.77211215G>CCA381935785MYO7Ac.6115G>C (p.Ala2039Pro)
c.3916G>C
c.5968G>C (p.Ala1990Pro)
c.3541G>C (p.Ala1181Pro)
c.6001G>C (p.Ala2001Pro)
n.3651G>C
n.25+304G>C
n.1582G>C
c.5998G>C (p.Ala2000Pro)
c.6106G>C (p.Ala2036Pro)
c.6109G>C (p.Ala2037Pro)
c.6082G>C (p.Ala2028Pro)
c.6019G>C (p.Ala2007Pro)
c.5890G>C (p.Ala1964Pro)
c.5878G>C (p.Ala1960Pro)
c.5851G>C (p.Ala1951Pro)
n.6435G>C
n.6409G>C
c.6205G>C (p.Ala2069Pro)
c.6199G>C (p.Ala2067Pro)
c.6196G>C (p.Ala2066Pro)
c.6091G>C (p.Ala2031Pro)
c.6088G>C (p.Ala2030Pro)
n.6194G>C
n.6135G>C
n.6180G>C
11g.77211215G=CA1984129860MYO7Ac.6115G= (p.Ala2039=)
c.3916G=
c.5968G= (p.Ala1990=)
c.3541G= (p.Ala1181=)
c.6001G= (p.Ala2001=)
n.3651G=
n.25+304G=
n.1582G=
c.5998G= (p.Ala2000=)
c.6106G= (p.Ala2036=)
c.6109G= (p.Ala2037=)
c.6082G= (p.Ala2028=)
c.6019G= (p.Ala2007=)
c.5890G= (p.Ala1964=)
c.5878G= (p.Ala1960=)
c.5851G= (p.Ala1951=)
n.6435G=
n.6409G=
c.6205G= (p.Ala2069=)
c.6199G= (p.Ala2067=)
c.6196G= (p.Ala2066=)
c.6091G= (p.Ala2031=)
c.6088G= (p.Ala2030=)
n.6194G=
n.6135G=
n.6180G=
11g.77211215G>TCA381935788MYO7Ac.6115G>T (p.Ala2039Ser)
c.3916G>T
c.5968G>T (p.Ala1990Ser)
c.3541G>T (p.Ala1181Ser)
c.6001G>T (p.Ala2001Ser)
n.3651G>T
n.25+304G>T
n.1582G>T
c.5998G>T (p.Ala2000Ser)
c.6106G>T (p.Ala2036Ser)
c.6109G>T (p.Ala2037Ser)
c.6082G>T (p.Ala2028Ser)
c.6019G>T (p.Ala2007Ser)
c.5890G>T (p.Ala1964Ser)
c.5878G>T (p.Ala1960Ser)
c.5851G>T (p.Ala1951Ser)
n.6435G>T
n.6409G>T
c.6205G>T (p.Ala2069Ser)
c.6199G>T (p.Ala2067Ser)
c.6196G>T (p.Ala2066Ser)
c.6091G>T (p.Ala2031Ser)
c.6088G>T (p.Ala2030Ser)
n.6194G>T
n.6135G>T
n.6180G>T
 ClinVar dbSNP
11g.77211216C>ACA381935791MYO7Ac.6116C>A (p.Ala2039Glu)
c.3917C>A
c.5969C>A (p.Ala1990Glu)
c.3542C>A (p.Ala1181Glu)
c.6002C>A (p.Ala2001Glu)
n.3652C>A
n.25+305C>A
n.1583C>A
c.5999C>A (p.Ala2000Glu)
c.6107C>A (p.Ala2036Glu)
c.6110C>A (p.Ala2037Glu)
c.6083C>A (p.Ala2028Glu)
c.6020C>A (p.Ala2007Glu)
c.5891C>A (p.Ala1964Glu)
c.5879C>A (p.Ala1960Glu)
c.5852C>A (p.Ala1951Glu)
n.6436C>A
n.6410C>A
c.6206C>A (p.Ala2069Glu)
c.6200C>A (p.Ala2067Glu)
c.6197C>A (p.Ala2066Glu)
c.6092C>A (p.Ala2031Glu)
c.6089C>A (p.Ala2030Glu)
n.6195C>A
n.6136C>A
n.6181C>A
 gnomAD v4
11g.77211216C=CA1984129861MYO7Ac.6116C= (p.Ala2039=)
c.3917C=
c.5969C= (p.Ala1990=)
c.3542C= (p.Ala1181=)
c.6002C= (p.Ala2001=)
n.3652C=
n.25+305C=
n.1583C=
c.5999C= (p.Ala2000=)
c.6107C= (p.Ala2036=)
c.6110C= (p.Ala2037=)
c.6083C= (p.Ala2028=)
c.6020C= (p.Ala2007=)
c.5891C= (p.Ala1964=)
c.5879C= (p.Ala1960=)
c.5852C= (p.Ala1951=)
n.6436C=
n.6410C=
c.6206C= (p.Ala2069=)
c.6200C= (p.Ala2067=)
c.6197C= (p.Ala2066=)
c.6092C= (p.Ala2031=)
c.6089C= (p.Ala2030=)
n.6195C=
n.6136C=
n.6181C=
11g.77211216C>GCA381935793MYO7Ac.6116C>G (p.Ala2039Gly)
c.3917C>G
c.5969C>G (p.Ala1990Gly)
c.3542C>G (p.Ala1181Gly)
c.6002C>G (p.Ala2001Gly)
n.3652C>G
n.25+305C>G
n.1583C>G
c.5999C>G (p.Ala2000Gly)
c.6107C>G (p.Ala2036Gly)
c.6110C>G (p.Ala2037Gly)
c.6083C>G (p.Ala2028Gly)
c.6020C>G (p.Ala2007Gly)
c.5891C>G (p.Ala1964Gly)
c.5879C>G (p.Ala1960Gly)
c.5852C>G (p.Ala1951Gly)
n.6436C>G
n.6410C>G
c.6206C>G (p.Ala2069Gly)
c.6200C>G (p.Ala2067Gly)
c.6197C>G (p.Ala2066Gly)
c.6092C>G (p.Ala2031Gly)
c.6089C>G (p.Ala2030Gly)
n.6195C>G
n.6136C>G
n.6181C>G
11g.77211216C>TCA224827704MYO7Ac.6116C>T (p.Ala2039Val)
c.3917C>T
c.5969C>T (p.Ala1990Val)
c.3542C>T (p.Ala1181Val)
c.6002C>T (p.Ala2001Val)
n.3652C>T
n.25+305C>T
n.1583C>T
c.5999C>T (p.Ala2000Val)
c.6107C>T (p.Ala2036Val)
c.6110C>T (p.Ala2037Val)
c.6083C>T (p.Ala2028Val)
c.6020C>T (p.Ala2007Val)
c.5891C>T (p.Ala1964Val)
c.5879C>T (p.Ala1960Val)
c.5852C>T (p.Ala1951Val)
n.6436C>T
n.6410C>T
c.6206C>T (p.Ala2069Val)
c.6200C>T (p.Ala2067Val)
c.6197C>T (p.Ala2066Val)
c.6092C>T (p.Ala2031Val)
c.6089C>T (p.Ala2030Val)
n.6195C>T
n.6136C>T
n.6181C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.77211217G>ACA6198939MYO7Ac.6117G>A (p.Ala2039=)
c.3918G>A
c.5970G>A (p.Ala1990=)
c.3543G>A (p.Ala1181=)
c.6003G>A (p.Ala2001=)
n.3653G>A
n.25+306G>A
n.1584G>A
c.6000G>A (p.Ala2000=)
c.6108G>A (p.Ala2036=)
c.6111G>A (p.Ala2037=)
c.6084G>A (p.Ala2028=)
c.6021G>A (p.Ala2007=)
c.5892G>A (p.Ala1964=)
c.5880G>A (p.Ala1960=)
c.5853G>A (p.Ala1951=)
n.6437G>A
n.6411G>A
c.6207G>A (p.Ala2069=)
c.6201G>A (p.Ala2067=)
c.6198G>A (p.Ala2066=)
c.6093G>A (p.Ala2031=)
c.6090G>A (p.Ala2030=)
n.6196G>A
n.6137G>A
n.6182G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77211217G>CCA475791944MYO7Ac.6117G>C (p.Ala2039=)
c.3918G>C
c.5970G>C (p.Ala1990=)
c.3543G>C (p.Ala1181=)
c.6003G>C (p.Ala2001=)
n.3653G>C
n.25+306G>C
n.1584G>C
c.6000G>C (p.Ala2000=)
c.6108G>C (p.Ala2036=)
c.6111G>C (p.Ala2037=)
c.6084G>C (p.Ala2028=)
c.6021G>C (p.Ala2007=)
c.5892G>C (p.Ala1964=)
c.5880G>C (p.Ala1960=)
c.5853G>C (p.Ala1951=)
n.6437G>C
n.6411G>C
c.6207G>C (p.Ala2069=)
c.6201G>C (p.Ala2067=)
c.6198G>C (p.Ala2066=)
c.6093G>C (p.Ala2031=)
c.6090G>C (p.Ala2030=)
n.6196G>C
n.6137G>C
n.6182G>C
11g.77211217G=CA1984129862MYO7Ac.6117G= (p.Ala2039=)
c.3918G=
c.5970G= (p.Ala1990=)
c.3543G= (p.Ala1181=)
c.6003G= (p.Ala2001=)
n.3653G=
n.25+306G=
n.1584G=
c.6000G= (p.Ala2000=)
c.6108G= (p.Ala2036=)
c.6111G= (p.Ala2037=)
c.6084G= (p.Ala2028=)
c.6021G= (p.Ala2007=)
c.5892G= (p.Ala1964=)
c.5880G= (p.Ala1960=)
c.5853G= (p.Ala1951=)
n.6437G=
n.6411G=
c.6207G= (p.Ala2069=)
c.6201G= (p.Ala2067=)
c.6198G= (p.Ala2066=)
c.6093G= (p.Ala2031=)
c.6090G= (p.Ala2030=)
n.6196G=
n.6137G=
n.6182G=
11g.77211217G>TCA475791945MYO7Ac.6117G>T (p.Ala2039=)
c.3918G>T
c.5970G>T (p.Ala1990=)
c.3543G>T (p.Ala1181=)
c.6003G>T (p.Ala2001=)
n.3653G>T
n.25+306G>T
n.1584G>T
c.6000G>T (p.Ala2000=)
c.6108G>T (p.Ala2036=)
c.6111G>T (p.Ala2037=)
c.6084G>T (p.Ala2028=)
c.6021G>T (p.Ala2007=)
c.5892G>T (p.Ala1964=)
c.5880G>T (p.Ala1960=)
c.5853G>T (p.Ala1951=)
n.6437G>T
n.6411G>T
c.6207G>T (p.Ala2069=)
c.6201G>T (p.Ala2067=)
c.6198G>T (p.Ala2066=)
c.6093G>T (p.Ala2031=)
c.6090G>T (p.Ala2030=)
n.6196G>T
n.6137G>T
n.6182G>T
 gnomAD v4
11g.77211218C>ACA381935800MYO7Ac.6118C>A (p.Leu2040Met)
c.3919C>A
c.5971C>A (p.Leu1991Met)
c.3544C>A (p.Leu1182Met)
c.6004C>A (p.Leu2002Met)
n.3654C>A
n.25+307C>A
n.1585C>A
c.6001C>A (p.Leu2001Met)
c.6109C>A (p.Leu2037Met)
c.6112C>A (p.Leu2038Met)
c.6085C>A (p.Leu2029Met)
c.6022C>A (p.Leu2008Met)
c.5893C>A (p.Leu1965Met)
c.5881C>A (p.Leu1961Met)
c.5854C>A (p.Leu1952Met)
n.6438C>A
n.6412C>A
c.6208C>A (p.Leu2070Met)
c.6202C>A (p.Leu2068Met)
c.6199C>A (p.Leu2067Met)
c.6094C>A (p.Leu2032Met)
c.6091C>A (p.Leu2031Met)
n.6197C>A
n.6138C>A
n.6183C>A
 gnomAD v4
11g.77211218C>GCA381935802MYO7Ac.6118C>G (p.Leu2040Val)
c.3919C>G
c.5971C>G (p.Leu1991Val)
c.3544C>G (p.Leu1182Val)
c.6004C>G (p.Leu2002Val)
n.3654C>G
n.25+307C>G
n.1585C>G
c.6001C>G (p.Leu2001Val)
c.6109C>G (p.Leu2037Val)
c.6112C>G (p.Leu2038Val)
c.6085C>G (p.Leu2029Val)
c.6022C>G (p.Leu2008Val)
c.5893C>G (p.Leu1965Val)
c.5881C>G (p.Leu1961Val)
c.5854C>G (p.Leu1952Val)
n.6438C>G
n.6412C>G
c.6208C>G (p.Leu2070Val)
c.6202C>G (p.Leu2068Val)
c.6199C>G (p.Leu2067Val)
c.6094C>G (p.Leu2032Val)
c.6091C>G (p.Leu2031Val)
n.6197C>G
n.6138C>G
n.6183C>G
11g.77211218C>TCA475791946MYO7Ac.6118C>T (p.Leu2040=)
c.3919C>T
c.5971C>T (p.Leu1991=)
c.3544C>T (p.Leu1182=)
c.6004C>T (p.Leu2002=)
n.3654C>T
n.25+307C>T
n.1585C>T
c.6001C>T (p.Leu2001=)
c.6109C>T (p.Leu2037=)
c.6112C>T (p.Leu2038=)
c.6085C>T (p.Leu2029=)
c.6022C>T (p.Leu2008=)
c.5893C>T (p.Leu1965=)
c.5881C>T (p.Leu1961=)
c.5854C>T (p.Leu1952=)
n.6438C>T
n.6412C>T
c.6208C>T (p.Leu2070=)
c.6202C>T (p.Leu2068=)
c.6199C>T (p.Leu2067=)
c.6094C>T (p.Leu2032=)
c.6091C>T (p.Leu2031=)
n.6197C>T
n.6138C>T
n.6183C>T
 gnomAD v4
11g.77211219T>ACA381935806MYO7Ac.6119T>A (p.Leu2040Gln)
c.3920T>A
c.5972T>A (p.Leu1991Gln)
c.3545T>A (p.Leu1182Gln)
c.6005T>A (p.Leu2002Gln)
n.3655T>A
n.25+308T>A
n.1586T>A
c.6002T>A (p.Leu2001Gln)
c.6110T>A (p.Leu2037Gln)
c.6113T>A (p.Leu2038Gln)
c.6086T>A (p.Leu2029Gln)
c.6023T>A (p.Leu2008Gln)
c.5894T>A (p.Leu1965Gln)
c.5882T>A (p.Leu1961Gln)
c.5855T>A (p.Leu1952Gln)
n.6439T>A
n.6413T>A
c.6209T>A (p.Leu2070Gln)
c.6203T>A (p.Leu2068Gln)
c.6200T>A (p.Leu2067Gln)
c.6095T>A (p.Leu2032Gln)
c.6092T>A (p.Leu2031Gln)
n.6198T>A
n.6139T>A
n.6184T>A
 gnomAD v4
11g.77211219T>CCA381935809MYO7Ac.6119T>C (p.Leu2040Pro)
c.3920T>C
c.5972T>C (p.Leu1991Pro)
c.3545T>C (p.Leu1182Pro)
c.6005T>C (p.Leu2002Pro)
n.3655T>C
n.25+308T>C
n.1586T>C
c.6002T>C (p.Leu2001Pro)
c.6110T>C (p.Leu2037Pro)
c.6113T>C (p.Leu2038Pro)
c.6086T>C (p.Leu2029Pro)
c.6023T>C (p.Leu2008Pro)
c.5894T>C (p.Leu1965Pro)
c.5882T>C (p.Leu1961Pro)
c.5855T>C (p.Leu1952Pro)
n.6439T>C
n.6413T>C
c.6209T>C (p.Leu2070Pro)
c.6203T>C (p.Leu2068Pro)
c.6200T>C (p.Leu2067Pro)
c.6095T>C (p.Leu2032Pro)
c.6092T>C (p.Leu2031Pro)
n.6198T>C
n.6139T>C
n.6184T>C
11g.77211219T>GCA381935811MYO7Ac.6119T>G (p.Leu2040Arg)
c.3920T>G
c.5972T>G (p.Leu1991Arg)
c.3545T>G (p.Leu1182Arg)
c.6005T>G (p.Leu2002Arg)
n.3655T>G
n.25+308T>G
n.1586T>G
c.6002T>G (p.Leu2001Arg)
c.6110T>G (p.Leu2037Arg)
c.6113T>G (p.Leu2038Arg)
c.6086T>G (p.Leu2029Arg)
c.6023T>G (p.Leu2008Arg)
c.5894T>G (p.Leu1965Arg)
c.5882T>G (p.Leu1961Arg)
c.5855T>G (p.Leu1952Arg)
n.6439T>G
n.6413T>G
c.6209T>G (p.Leu2070Arg)
c.6203T>G (p.Leu2068Arg)
c.6200T>G (p.Leu2067Arg)
c.6095T>G (p.Leu2032Arg)
c.6092T>G (p.Leu2031Arg)
n.6198T>G
n.6139T>G
n.6184T>G
11g.77211220G>ACA475791947MYO7Ac.6120G>A (p.Leu2040=)
c.3921G>A
c.5973G>A (p.Leu1991=)
c.3546G>A (p.Leu1182=)
c.6006G>A (p.Leu2002=)
n.3656G>A
n.25+309G>A
n.1587G>A
c.6003G>A (p.Leu2001=)
c.6111G>A (p.Leu2037=)
c.6114G>A (p.Leu2038=)
c.6087G>A (p.Leu2029=)
c.6024G>A (p.Leu2008=)
c.5895G>A (p.Leu1965=)
c.5883G>A (p.Leu1961=)
c.5856G>A (p.Leu1952=)
n.6440G>A
n.6414G>A
c.6210G>A (p.Leu2070=)
c.6204G>A (p.Leu2068=)
c.6201G>A (p.Leu2067=)
c.6096G>A (p.Leu2032=)
c.6093G>A (p.Leu2031=)
n.6199G>A
n.6140G>A
n.6185G>A
 gnomAD v4
11g.77211220G>CCA475791948MYO7Ac.6120G>C (p.Leu2040=)
c.3921G>C
c.5973G>C (p.Leu1991=)
c.3546G>C (p.Leu1182=)
c.6006G>C (p.Leu2002=)
n.3656G>C
n.25+309G>C
n.1587G>C
c.6003G>C (p.Leu2001=)
c.6111G>C (p.Leu2037=)
c.6114G>C (p.Leu2038=)
c.6087G>C (p.Leu2029=)
c.6024G>C (p.Leu2008=)
c.5895G>C (p.Leu1965=)
c.5883G>C (p.Leu1961=)
c.5856G>C (p.Leu1952=)
n.6440G>C
n.6414G>C
c.6210G>C (p.Leu2070=)
c.6204G>C (p.Leu2068=)
c.6201G>C (p.Leu2067=)
c.6096G>C (p.Leu2032=)
c.6093G>C (p.Leu2031=)
n.6199G>C
n.6140G>C
n.6185G>C
 ClinVar dbSNP gnomAD v4
11g.77211220G=CA1984129863MYO7Ac.6120G= (p.Leu2040=)
c.3921G=
c.5973G= (p.Leu1991=)
c.3546G= (p.Leu1182=)
c.6006G= (p.Leu2002=)
n.3656G=
n.25+309G=
n.1587G=
c.6003G= (p.Leu2001=)
c.6111G= (p.Leu2037=)
c.6114G= (p.Leu2038=)
c.6087G= (p.Leu2029=)
c.6024G= (p.Leu2008=)
c.5895G= (p.Leu1965=)
c.5883G= (p.Leu1961=)
c.5856G= (p.Leu1952=)
n.6440G=
n.6414G=
c.6210G= (p.Leu2070=)
c.6204G= (p.Leu2068=)
c.6201G= (p.Leu2067=)
c.6096G= (p.Leu2032=)
c.6093G= (p.Leu2031=)
n.6199G=
n.6140G=
n.6185G=
11g.77211220G>TCA475791949MYO7Ac.6120G>T (p.Leu2040=)
c.3921G>T
c.5973G>T (p.Leu1991=)
c.3546G>T (p.Leu1182=)
c.6006G>T (p.Leu2002=)
n.3656G>T
n.25+309G>T
n.1587G>T
c.6003G>T (p.Leu2001=)
c.6111G>T (p.Leu2037=)
c.6114G>T (p.Leu2038=)
c.6087G>T (p.Leu2029=)
c.6024G>T (p.Leu2008=)
c.5895G>T (p.Leu1965=)
c.5883G>T (p.Leu1961=)
c.5856G>T (p.Leu1952=)
n.6440G>T
n.6414G>T
c.6210G>T (p.Leu2070=)
c.6204G>T (p.Leu2068=)
c.6201G>T (p.Leu2067=)
c.6096G>T (p.Leu2032=)
c.6093G>T (p.Leu2031=)
n.6199G>T
n.6140G>T
n.6185G>T
 gnomAD v4
11g.77211221A>CCA381935813MYO7Ac.6121A>C (p.Ile2041Leu)
c.3922A>C
c.5974A>C (p.Ile1992Leu)
c.3547A>C (p.Ile1183Leu)
c.6007A>C (p.Ile2003Leu)
n.3657A>C
n.25+310A>C
n.1588A>C
c.6004A>C (p.Ile2002Leu)
c.6112A>C (p.Ile2038Leu)
c.6115A>C (p.Ile2039Leu)
c.6088A>C (p.Ile2030Leu)
c.6025A>C (p.Ile2009Leu)
c.5896A>C (p.Ile1966Leu)
c.5884A>C (p.Ile1962Leu)
c.5857A>C (p.Ile1953Leu)
n.6441A>C
n.6415A>C
c.6211A>C (p.Ile2071Leu)
c.6205A>C (p.Ile2069Leu)
c.6202A>C (p.Ile2068Leu)
c.6097A>C (p.Ile2033Leu)
c.6094A>C (p.Ile2032Leu)
n.6200A>C
n.6141A>C
n.6186A>C
11g.77211221A>GCA381935814MYO7Ac.6121A>G (p.Ile2041Val)
c.3922A>G
c.5974A>G (p.Ile1992Val)
c.3547A>G (p.Ile1183Val)
c.6007A>G (p.Ile2003Val)
n.3657A>G
n.25+310A>G
n.1588A>G
c.6004A>G (p.Ile2002Val)
c.6112A>G (p.Ile2038Val)
c.6115A>G (p.Ile2039Val)
c.6088A>G (p.Ile2030Val)
c.6025A>G (p.Ile2009Val)
c.5896A>G (p.Ile1966Val)
c.5884A>G (p.Ile1962Val)
c.5857A>G (p.Ile1953Val)
n.6441A>G
n.6415A>G
c.6211A>G (p.Ile2071Val)
c.6205A>G (p.Ile2069Val)
c.6202A>G (p.Ile2068Val)
c.6097A>G (p.Ile2033Val)
c.6094A>G (p.Ile2032Val)
n.6200A>G
n.6141A>G
n.6186A>G
 gnomAD v4 COSMIC
11g.77211221A>TCA381935815MYO7Ac.6121A>T (p.Ile2041Phe)
c.3922A>T
c.5974A>T (p.Ile1992Phe)
c.3547A>T (p.Ile1183Phe)
c.6007A>T (p.Ile2003Phe)
n.3657A>T
n.25+310A>T
n.1588A>T
c.6004A>T (p.Ile2002Phe)
c.6112A>T (p.Ile2038Phe)
c.6115A>T (p.Ile2039Phe)
c.6088A>T (p.Ile2030Phe)
c.6025A>T (p.Ile2009Phe)
c.5896A>T (p.Ile1966Phe)
c.5884A>T (p.Ile1962Phe)
c.5857A>T (p.Ile1953Phe)
n.6441A>T
n.6415A>T
c.6211A>T (p.Ile2071Phe)
c.6205A>T (p.Ile2069Phe)
c.6202A>T (p.Ile2068Phe)
c.6097A>T (p.Ile2033Phe)
c.6094A>T (p.Ile2032Phe)
n.6200A>T
n.6141A>T
n.6186A>T
11g.77211222T>ACA381935816MYO7Ac.6122T>A (p.Ile2041Asn)
c.3923T>A
c.5975T>A (p.Ile1992Asn)
c.3548T>A (p.Ile1183Asn)
c.6008T>A (p.Ile2003Asn)
n.3658T>A
n.25+311T>A
n.1589T>A
c.6005T>A (p.Ile2002Asn)
c.6113T>A (p.Ile2038Asn)
c.6116T>A (p.Ile2039Asn)
c.6089T>A (p.Ile2030Asn)
c.6026T>A (p.Ile2009Asn)
c.5897T>A (p.Ile1966Asn)
c.5885T>A (p.Ile1962Asn)
c.5858T>A (p.Ile1953Asn)
n.6442T>A
n.6416T>A
c.6212T>A (p.Ile2071Asn)
c.6206T>A (p.Ile2069Asn)
c.6203T>A (p.Ile2068Asn)
c.6098T>A (p.Ile2033Asn)
c.6095T>A (p.Ile2032Asn)
n.6201T>A
n.6142T>A
n.6187T>A
11g.77211222T>CCA381935818MYO7Ac.6122T>C (p.Ile2041Thr)
c.3923T>C
c.5975T>C (p.Ile1992Thr)
c.3548T>C (p.Ile1183Thr)
c.6008T>C (p.Ile2003Thr)
n.3658T>C
n.25+311T>C
n.1589T>C
c.6005T>C (p.Ile2002Thr)
c.6113T>C (p.Ile2038Thr)
c.6116T>C (p.Ile2039Thr)
c.6089T>C (p.Ile2030Thr)
c.6026T>C (p.Ile2009Thr)
c.5897T>C (p.Ile1966Thr)
c.5885T>C (p.Ile1962Thr)
c.5858T>C (p.Ile1953Thr)
n.6442T>C
n.6416T>C
c.6212T>C (p.Ile2071Thr)
c.6206T>C (p.Ile2069Thr)
c.6203T>C (p.Ile2068Thr)
c.6098T>C (p.Ile2033Thr)
c.6095T>C (p.Ile2032Thr)
n.6201T>C
n.6142T>C
n.6187T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77211222T>GCA381935820MYO7Ac.6122T>G (p.Ile2041Ser)
c.3923T>G
c.5975T>G (p.Ile1992Ser)
c.3548T>G (p.Ile1183Ser)
c.6008T>G (p.Ile2003Ser)
n.3658T>G
n.25+311T>G
n.1589T>G
c.6005T>G (p.Ile2002Ser)
c.6113T>G (p.Ile2038Ser)
c.6116T>G (p.Ile2039Ser)
c.6089T>G (p.Ile2030Ser)
c.6026T>G (p.Ile2009Ser)
c.5897T>G (p.Ile1966Ser)
c.5885T>G (p.Ile1962Ser)
c.5858T>G (p.Ile1953Ser)
n.6442T>G
n.6416T>G
c.6212T>G (p.Ile2071Ser)
c.6206T>G (p.Ile2069Ser)
c.6203T>G (p.Ile2068Ser)
c.6098T>G (p.Ile2033Ser)
c.6095T>G (p.Ile2032Ser)
n.6201T>G
n.6142T>G
n.6187T>G
11g.77211222T=CA1984129864MYO7Ac.6122T= (p.Ile2041=)
c.3923T=
c.5975T= (p.Ile1992=)
c.3548T= (p.Ile1183=)
c.6008T= (p.Ile2003=)
n.3658T=
n.25+311T=
n.1589T=
c.6005T= (p.Ile2002=)
c.6113T= (p.Ile2038=)
c.6116T= (p.Ile2039=)
c.6089T= (p.Ile2030=)
c.6026T= (p.Ile2009=)
c.5897T= (p.Ile1966=)
c.5885T= (p.Ile1962=)
c.5858T= (p.Ile1953=)
n.6442T=
n.6416T=
c.6212T= (p.Ile2071=)
c.6206T= (p.Ile2069=)
c.6203T= (p.Ile2068=)
c.6098T= (p.Ile2033=)
c.6095T= (p.Ile2032=)
n.6201T=
n.6142T=
n.6187T=
11g.77211223C>ACA475791950MYO7Ac.6123C>A (p.Ile2041=)
c.3924C>A
c.5976C>A (p.Ile1992=)
c.3549C>A (p.Ile1183=)
c.6009C>A (p.Ile2003=)
n.3659C>A
n.25+312C>A
n.1590C>A
c.6006C>A (p.Ile2002=)
c.6114C>A (p.Ile2038=)
c.6117C>A (p.Ile2039=)
c.6090C>A (p.Ile2030=)
c.6027C>A (p.Ile2009=)
c.5898C>A (p.Ile1966=)
c.5886C>A (p.Ile1962=)
c.5859C>A (p.Ile1953=)
n.6443C>A
n.6417C>A
c.6213C>A (p.Ile2071=)
c.6207C>A (p.Ile2069=)
c.6204C>A (p.Ile2068=)
c.6099C>A (p.Ile2033=)
c.6096C>A (p.Ile2032=)
n.6202C>A
n.6143C>A
n.6188C>A
 gnomAD v4
11g.77211223C=CA1984129865MYO7Ac.6123C= (p.Ile2041=)
c.3924C=
c.5976C= (p.Ile1992=)
c.3549C= (p.Ile1183=)
c.6009C= (p.Ile2003=)
n.3659C=
n.25+312C=
n.1590C=
c.6006C= (p.Ile2002=)
c.6114C= (p.Ile2038=)
c.6117C= (p.Ile2039=)
c.6090C= (p.Ile2030=)
c.6027C= (p.Ile2009=)
c.5898C= (p.Ile1966=)
c.5886C= (p.Ile1962=)
c.5859C= (p.Ile1953=)
n.6443C=
n.6417C=
c.6213C= (p.Ile2071=)
c.6207C= (p.Ile2069=)
c.6204C= (p.Ile2068=)
c.6099C= (p.Ile2033=)
c.6096C= (p.Ile2032=)
n.6202C=
n.6143C=
n.6188C=
11g.77211223C>GCA381935823MYO7Ac.6123C>G (p.Ile2041Met)
c.3924C>G
c.5976C>G (p.Ile1992Met)
c.3549C>G (p.Ile1183Met)
c.6009C>G (p.Ile2003Met)
n.3659C>G
n.25+312C>G
n.1590C>G
c.6006C>G (p.Ile2002Met)
c.6114C>G (p.Ile2038Met)
c.6117C>G (p.Ile2039Met)
c.6090C>G (p.Ile2030Met)
c.6027C>G (p.Ile2009Met)
c.5898C>G (p.Ile1966Met)
c.5886C>G (p.Ile1962Met)
c.5859C>G (p.Ile1953Met)
n.6443C>G
n.6417C>G
c.6213C>G (p.Ile2071Met)
c.6207C>G (p.Ile2069Met)
c.6204C>G (p.Ile2068Met)
c.6099C>G (p.Ile2033Met)
c.6096C>G (p.Ile2032Met)
n.6202C>G
n.6143C>G
n.6188C>G
11g.77211223C>TCA6198940MYO7Ac.6123C>T (p.Ile2041=)
c.3924C>T
c.5976C>T (p.Ile1992=)
c.3549C>T (p.Ile1183=)
c.6009C>T (p.Ile2003=)
n.3659C>T
n.25+312C>T
n.1590C>T
c.6006C>T (p.Ile2002=)
c.6114C>T (p.Ile2038=)
c.6117C>T (p.Ile2039=)
c.6090C>T (p.Ile2030=)
c.6027C>T (p.Ile2009=)
c.5898C>T (p.Ile1966=)
c.5886C>T (p.Ile1962=)
c.5859C>T (p.Ile1953=)
n.6443C>T
n.6417C>T
c.6213C>T (p.Ile2071=)
c.6207C>T (p.Ile2069=)
c.6204C>T (p.Ile2068=)
c.6099C>T (p.Ile2033=)
c.6096C>T (p.Ile2032=)
n.6202C>T
n.6143C>T
n.6188C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.77211224T>ACA381935830MYO7Ac.6124T>A (p.Tyr2042Asn)
c.3925T>A
c.5977T>A (p.Tyr1993Asn)
c.3550T>A (p.Tyr1184Asn)
c.6010T>A (p.Tyr2004Asn)
n.3660T>A
n.25+313T>A
n.1591T>A
c.6007T>A (p.Tyr2003Asn)
c.6115T>A (p.Tyr2039Asn)
c.6118T>A (p.Tyr2040Asn)
c.6091T>A (p.Tyr2031Asn)
c.6028T>A (p.Tyr2010Asn)
c.5899T>A (p.Tyr1967Asn)
c.5887T>A (p.Tyr1963Asn)
c.5860T>A (p.Tyr1954Asn)
n.6444T>A
n.6418T>A
c.6214T>A (p.Tyr2072Asn)
c.6208T>A (p.Tyr2070Asn)
c.6205T>A (p.Tyr2069Asn)
c.6100T>A (p.Tyr2034Asn)
c.6097T>A (p.Tyr2033Asn)
n.6203T>A
n.6144T>A
n.6189T>A
11g.77211224T>CCA381935828MYO7Ac.6124T>C (p.Tyr2042His)
c.3925T>C
c.5977T>C (p.Tyr1993His)
c.3550T>C (p.Tyr1184His)
c.6010T>C (p.Tyr2004His)
n.3660T>C
n.25+313T>C
n.1591T>C
c.6007T>C (p.Tyr2003His)
c.6115T>C (p.Tyr2039His)
c.6118T>C (p.Tyr2040His)
c.6091T>C (p.Tyr2031His)
c.6028T>C (p.Tyr2010His)
c.5899T>C (p.Tyr1967His)
c.5887T>C (p.Tyr1963His)
c.5860T>C (p.Tyr1954His)
n.6444T>C
n.6418T>C
c.6214T>C (p.Tyr2072His)
c.6208T>C (p.Tyr2070His)
c.6205T>C (p.Tyr2069His)
c.6100T>C (p.Tyr2034His)
c.6097T>C (p.Tyr2033His)
n.6203T>C
n.6144T>C
n.6189T>C
11g.77211224T>GCA381935825MYO7Ac.6124T>G (p.Tyr2042Asp)
c.3925T>G
c.5977T>G (p.Tyr1993Asp)
c.3550T>G (p.Tyr1184Asp)
c.6010T>G (p.Tyr2004Asp)
n.3660T>G
n.25+313T>G
n.1591T>G
c.6007T>G (p.Tyr2003Asp)
c.6115T>G (p.Tyr2039Asp)
c.6118T>G (p.Tyr2040Asp)
c.6091T>G (p.Tyr2031Asp)
c.6028T>G (p.Tyr2010Asp)
c.5899T>G (p.Tyr1967Asp)
c.5887T>G (p.Tyr1963Asp)
c.5860T>G (p.Tyr1954Asp)
n.6444T>G
n.6418T>G
c.6214T>G (p.Tyr2072Asp)
c.6208T>G (p.Tyr2070Asp)
c.6205T>G (p.Tyr2069Asp)
c.6100T>G (p.Tyr2034Asp)
c.6097T>G (p.Tyr2033Asp)
n.6203T>G
n.6144T>G
n.6189T>G
11g.77211224dupCA2740093151MYO7Ac.6124dup (p.Tyr2042LeufsTer?)
c.3925dup
c.5977dup (p.Tyr1993LeufsTer?)
c.3550dup (p.Tyr1184LeufsTer?)
c.6010dup (p.Tyr2004LeufsTer?)
n.3660dup
n.25+313dup
n.1591dup
c.6007dup (p.Tyr2003LeufsTer?)
c.6115dup (p.Tyr2039LeufsTer?)
c.6118dup (p.Tyr2040LeufsTer?)
c.6091dup (p.Tyr2031LeufsTer?)
c.6028dup (p.Tyr2010LeufsTer?)
c.5899dup (p.Tyr1967LeufsTer?)
c.5887dup (p.Tyr1963LeufsTer?)
c.5860dup (p.Tyr1954LeufsTer?)
n.6444dup
n.6418dup
c.6214dup (p.Tyr2072LeufsTer?)
c.6208dup (p.Tyr2070LeufsTer?)
c.6205dup (p.Tyr2069LeufsTer?)
c.6100dup (p.Tyr2034LeufsTer?)
c.6097dup (p.Tyr2033LeufsTer?)
n.6203dup
n.6144dup
n.6189dup
 ClinVar
11g.77211225A>CCA381935833MYO7Ac.6125A>C (p.Tyr2042Ser)
c.3926A>C
c.5978A>C (p.Tyr1993Ser)
c.3551A>C (p.Tyr1184Ser)
c.6011A>C (p.Tyr2004Ser)
n.3661A>C
n.25+314A>C
n.1592A>C
c.6008A>C (p.Tyr2003Ser)
c.6116A>C (p.Tyr2039Ser)
c.6119A>C (p.Tyr2040Ser)
c.6092A>C (p.Tyr2031Ser)
c.6029A>C (p.Tyr2010Ser)
c.5900A>C (p.Tyr1967Ser)
c.5888A>C (p.Tyr1963Ser)
c.5861A>C (p.Tyr1954Ser)
n.6445A>C
n.6419A>C
c.6215A>C (p.Tyr2072Ser)
c.6209A>C (p.Tyr2070Ser)
c.6206A>C (p.Tyr2069Ser)
c.6101A>C (p.Tyr2034Ser)
c.6098A>C (p.Tyr2033Ser)
n.6204A>C
n.6145A>C
n.6190A>C
11g.77211225A>GCA381935836MYO7Ac.6125A>G (p.Tyr2042Cys)
c.3926A>G
c.5978A>G (p.Tyr1993Cys)
c.3551A>G (p.Tyr1184Cys)
c.6011A>G (p.Tyr2004Cys)
n.3661A>G
n.25+314A>G
n.1592A>G
c.6008A>G (p.Tyr2003Cys)
c.6116A>G (p.Tyr2039Cys)
c.6119A>G (p.Tyr2040Cys)
c.6092A>G (p.Tyr2031Cys)
c.6029A>G (p.Tyr2010Cys)
c.5900A>G (p.Tyr1967Cys)
c.5888A>G (p.Tyr1963Cys)
c.5861A>G (p.Tyr1954Cys)
n.6445A>G
n.6419A>G
c.6215A>G (p.Tyr2072Cys)
c.6209A>G (p.Tyr2070Cys)
c.6206A>G (p.Tyr2069Cys)
c.6101A>G (p.Tyr2034Cys)
c.6098A>G (p.Tyr2033Cys)
n.6204A>G
n.6145A>G
n.6190A>G
 gnomAD v4
11g.77211225A>TCA381935838MYO7Ac.6125A>T (p.Tyr2042Phe)
c.3926A>T
c.5978A>T (p.Tyr1993Phe)
c.3551A>T (p.Tyr1184Phe)
c.6011A>T (p.Tyr2004Phe)
n.3661A>T
n.25+314A>T
n.1592A>T
c.6008A>T (p.Tyr2003Phe)
c.6116A>T (p.Tyr2039Phe)
c.6119A>T (p.Tyr2040Phe)
c.6092A>T (p.Tyr2031Phe)
c.6029A>T (p.Tyr2010Phe)
c.5900A>T (p.Tyr1967Phe)
c.5888A>T (p.Tyr1963Phe)
c.5861A>T (p.Tyr1954Phe)
n.6445A>T
n.6419A>T
c.6215A>T (p.Tyr2072Phe)
c.6209A>T (p.Tyr2070Phe)
c.6206A>T (p.Tyr2069Phe)
c.6101A>T (p.Tyr2034Phe)
c.6098A>T (p.Tyr2033Phe)
n.6204A>T
n.6145A>T
n.6190A>T
11g.77211226C>ACA381935841MYO7Ac.6126C>A (p.Tyr2042Ter)
c.3927C>A
c.5979C>A (p.Tyr1993Ter)
c.3552C>A (p.Tyr1184Ter)
c.6012C>A (p.Tyr2004Ter)
n.3662C>A
n.25+315C>A
n.1593C>A
c.6009C>A (p.Tyr2003Ter)
c.6117C>A (p.Tyr2039Ter)
c.6120C>A (p.Tyr2040Ter)
c.6093C>A (p.Tyr2031Ter)
c.6030C>A (p.Tyr2010Ter)
c.5901C>A (p.Tyr1967Ter)
c.5889C>A (p.Tyr1963Ter)
c.5862C>A (p.Tyr1954Ter)
n.6446C>A
n.6420C>A
c.6216C>A (p.Tyr2072Ter)
c.6210C>A (p.Tyr2070Ter)
c.6207C>A (p.Tyr2069Ter)
c.6102C>A (p.Tyr2034Ter)
c.6099C>A (p.Tyr2033Ter)
n.6205C>A
n.6146C>A
n.6191C>A
 gnomAD v4
11g.77211226C=CA1984129866MYO7Ac.6126C= (p.Tyr2042=)
c.3927C=
c.5979C= (p.Tyr1993=)
c.3552C= (p.Tyr1184=)
c.6012C= (p.Tyr2004=)
n.3662C=
n.25+315C=
n.1593C=
c.6009C= (p.Tyr2003=)
c.6117C= (p.Tyr2039=)
c.6120C= (p.Tyr2040=)
c.6093C= (p.Tyr2031=)
c.6030C= (p.Tyr2010=)
c.5901C= (p.Tyr1967=)
c.5889C= (p.Tyr1963=)
c.5862C= (p.Tyr1954=)
n.6446C=
n.6420C=
c.6216C= (p.Tyr2072=)
c.6210C= (p.Tyr2070=)
c.6207C= (p.Tyr2069=)
c.6102C= (p.Tyr2034=)
c.6099C= (p.Tyr2033=)
n.6205C=
n.6146C=
n.6191C=
11g.77211226C>GCA381935843MYO7Ac.6126C>G (p.Tyr2042Ter)
c.3927C>G
c.5979C>G (p.Tyr1993Ter)
c.3552C>G (p.Tyr1184Ter)
c.6012C>G (p.Tyr2004Ter)
n.3662C>G
n.25+315C>G
n.1593C>G
c.6009C>G (p.Tyr2003Ter)
c.6117C>G (p.Tyr2039Ter)
c.6120C>G (p.Tyr2040Ter)
c.6093C>G (p.Tyr2031Ter)
c.6030C>G (p.Tyr2010Ter)
c.5901C>G (p.Tyr1967Ter)
c.5889C>G (p.Tyr1963Ter)
c.5862C>G (p.Tyr1954Ter)
n.6446C>G
n.6420C>G
c.6216C>G (p.Tyr2072Ter)
c.6210C>G (p.Tyr2070Ter)
c.6207C>G (p.Tyr2069Ter)
c.6102C>G (p.Tyr2034Ter)
c.6099C>G (p.Tyr2033Ter)
n.6205C>G
n.6146C>G
n.6191C>G
 ClinVar dbSNP gnomAD v4
11g.77211226C>TCA475791954MYO7Ac.6126C>T (p.Tyr2042=)
c.3927C>T
c.5979C>T (p.Tyr1993=)
c.3552C>T (p.Tyr1184=)
c.6012C>T (p.Tyr2004=)
n.3662C>T
n.25+315C>T
n.1593C>T
c.6009C>T (p.Tyr2003=)
c.6117C>T (p.Tyr2039=)
c.6120C>T (p.Tyr2040=)
c.6093C>T (p.Tyr2031=)
c.6030C>T (p.Tyr2010=)
c.5901C>T (p.Tyr1967=)
c.5889C>T (p.Tyr1963=)
c.5862C>T (p.Tyr1954=)
n.6446C>T
n.6420C>T
c.6216C>T (p.Tyr2072=)
c.6210C>T (p.Tyr2070=)
c.6207C>T (p.Tyr2069=)
c.6102C>T (p.Tyr2034=)
c.6099C>T (p.Tyr2033=)
n.6205C>T
n.6146C>T
n.6191C>T
 ClinVar dbSNP gnomAD v4
11g.77211227A=CA1984129867MYO7Ac.6127A= (p.Arg2043=)
c.3928A=
c.5980A= (p.Arg1994=)
c.3553A= (p.Arg1185=)
c.6013A= (p.Arg2005=)
n.3663A=
n.25+316A=
n.1594A=
c.6010A= (p.Arg2004=)
c.6118A= (p.Arg2040=)
c.6121A= (p.Arg2041=)
c.6094A= (p.Arg2032=)
c.6031A= (p.Arg2011=)
c.5902A= (p.Arg1968=)
c.5890A= (p.Arg1964=)
c.5863A= (p.Arg1955=)
n.6447A=
n.6421A=
c.6217A= (p.Arg2073=)
c.6211A= (p.Arg2071=)
c.6208A= (p.Arg2070=)
c.6103A= (p.Arg2035=)
c.6100A= (p.Arg2034=)
n.6206A=
n.6147A=
n.6192A=
11g.77211227A>CCA475791956MYO7Ac.6127A>C (p.Arg2043=)
c.3928A>C
c.5980A>C (p.Arg1994=)
c.3553A>C (p.Arg1185=)
c.6013A>C (p.Arg2005=)
n.3663A>C
n.25+316A>C
n.1594A>C
c.6010A>C (p.Arg2004=)
c.6118A>C (p.Arg2040=)
c.6121A>C (p.Arg2041=)
c.6094A>C (p.Arg2032=)
c.6031A>C (p.Arg2011=)
c.5902A>C (p.Arg1968=)
c.5890A>C (p.Arg1964=)
c.5863A>C (p.Arg1955=)
n.6447A>C
n.6421A>C
c.6217A>C (p.Arg2073=)
c.6211A>C (p.Arg2071=)
c.6208A>C (p.Arg2070=)
c.6103A>C (p.Arg2035=)
c.6100A>C (p.Arg2034=)
n.6206A>C
n.6147A>C
n.6192A>C
 dbSNP gnomAD v3 gnomAD v4
11g.77211227A>GCA381935846MYO7Ac.6127A>G (p.Arg2043Gly)
c.3928A>G
c.5980A>G (p.Arg1994Gly)
c.3553A>G (p.Arg1185Gly)
c.6013A>G (p.Arg2005Gly)
n.3663A>G
n.25+316A>G
n.1594A>G
c.6010A>G (p.Arg2004Gly)
c.6118A>G (p.Arg2040Gly)
c.6121A>G (p.Arg2041Gly)
c.6094A>G (p.Arg2032Gly)
c.6031A>G (p.Arg2011Gly)
c.5902A>G (p.Arg1968Gly)
c.5890A>G (p.Arg1964Gly)
c.5863A>G (p.Arg1955Gly)
n.6447A>G
n.6421A>G
c.6217A>G (p.Arg2073Gly)
c.6211A>G (p.Arg2071Gly)
c.6208A>G (p.Arg2070Gly)
c.6103A>G (p.Arg2035Gly)
c.6100A>G (p.Arg2034Gly)
n.6206A>G
n.6147A>G
n.6192A>G
11g.77211227A>TCA381935848MYO7Ac.6127A>T (p.Arg2043Trp)
c.3928A>T
c.5980A>T (p.Arg1994Trp)
c.3553A>T (p.Arg1185Trp)
c.6013A>T (p.Arg2005Trp)
n.3663A>T
n.25+316A>T
n.1594A>T
c.6010A>T (p.Arg2004Trp)
c.6118A>T (p.Arg2040Trp)
c.6121A>T (p.Arg2041Trp)
c.6094A>T (p.Arg2032Trp)
c.6031A>T (p.Arg2011Trp)
c.5902A>T (p.Arg1968Trp)
c.5890A>T (p.Arg1964Trp)
c.5863A>T (p.Arg1955Trp)
n.6447A>T
n.6421A>T
c.6217A>T (p.Arg2073Trp)
c.6211A>T (p.Arg2071Trp)
c.6208A>T (p.Arg2070Trp)
c.6103A>T (p.Arg2035Trp)
c.6100A>T (p.Arg2034Trp)
n.6206A>T
n.6147A>T
n.6192A>T
11g.77211228G>ACA381935851MYO7Ac.6128G>A (p.Arg2043Lys)
c.3929G>A
c.5981G>A (p.Arg1994Lys)
c.3554G>A (p.Arg1185Lys)
c.6014G>A (p.Arg2005Lys)
n.3664G>A
n.25+317G>A
n.1595G>A
c.6011G>A (p.Arg2004Lys)
c.6119G>A (p.Arg2040Lys)
c.6122G>A (p.Arg2041Lys)
c.6095G>A (p.Arg2032Lys)
c.6032G>A (p.Arg2011Lys)
c.5903G>A (p.Arg1968Lys)
c.5891G>A (p.Arg1964Lys)
c.5864G>A (p.Arg1955Lys)
n.6448G>A
n.6422G>A
c.6218G>A (p.Arg2073Lys)
c.6212G>A (p.Arg2071Lys)
c.6209G>A (p.Arg2070Lys)
c.6104G>A (p.Arg2035Lys)
c.6101G>A (p.Arg2034Lys)
n.6207G>A
n.6148G>A
n.6193G>A
11g.77211228G>CCA381935853MYO7Ac.6128G>C (p.Arg2043Thr)
c.3929G>C
c.5981G>C (p.Arg1994Thr)
c.3554G>C (p.Arg1185Thr)
c.6014G>C (p.Arg2005Thr)
n.3664G>C
n.25+317G>C
n.1595G>C
c.6011G>C (p.Arg2004Thr)
c.6119G>C (p.Arg2040Thr)
c.6122G>C (p.Arg2041Thr)
c.6095G>C (p.Arg2032Thr)
c.6032G>C (p.Arg2011Thr)
c.5903G>C (p.Arg1968Thr)
c.5891G>C (p.Arg1964Thr)
c.5864G>C (p.Arg1955Thr)
n.6448G>C
n.6422G>C
c.6218G>C (p.Arg2073Thr)
c.6212G>C (p.Arg2071Thr)
c.6209G>C (p.Arg2070Thr)
c.6104G>C (p.Arg2035Thr)
c.6101G>C (p.Arg2034Thr)
n.6207G>C
n.6148G>C
n.6193G>C
 ClinVar dbSNP
11g.77211228G=CA1984129868MYO7Ac.6128G= (p.Arg2043=)
c.3929G=
c.5981G= (p.Arg1994=)
c.3554G= (p.Arg1185=)
c.6014G= (p.Arg2005=)
n.3664G=
n.25+317G=
n.1595G=
c.6011G= (p.Arg2004=)
c.6119G= (p.Arg2040=)
c.6122G= (p.Arg2041=)
c.6095G= (p.Arg2032=)
c.6032G= (p.Arg2011=)
c.5903G= (p.Arg1968=)
c.5891G= (p.Arg1964=)
c.5864G= (p.Arg1955=)
n.6448G=
n.6422G=
c.6218G= (p.Arg2073=)
c.6212G= (p.Arg2071=)
c.6209G= (p.Arg2070=)
c.6104G= (p.Arg2035=)
c.6101G= (p.Arg2034=)
n.6207G=
n.6148G=
n.6193G=
11g.77211228G>TCA381935855MYO7Ac.6128G>T (p.Arg2043Met)
c.3929G>T
c.5981G>T (p.Arg1994Met)
c.3554G>T (p.Arg1185Met)
c.6014G>T (p.Arg2005Met)
n.3664G>T
n.25+317G>T
n.1595G>T
c.6011G>T (p.Arg2004Met)
c.6119G>T (p.Arg2040Met)
c.6122G>T (p.Arg2041Met)
c.6095G>T (p.Arg2032Met)
c.6032G>T (p.Arg2011Met)
c.5903G>T (p.Arg1968Met)
c.5891G>T (p.Arg1964Met)
c.5864G>T (p.Arg1955Met)
n.6448G>T
n.6422G>T
c.6218G>T (p.Arg2073Met)
c.6212G>T (p.Arg2071Met)
c.6209G>T (p.Arg2070Met)
c.6104G>T (p.Arg2035Met)
c.6101G>T (p.Arg2034Met)
n.6207G>T
n.6148G>T
n.6193G>T
11g.77211230dupCA2792788393MYO7Ac.6130dup (p.Val2044GlyfsTer?)
c.3931dup
c.5983dup (p.Val1995GlyfsTer?)
c.3556dup (p.Val1186GlyfsTer?)
c.6016dup (p.Val2006GlyfsTer?)
n.3666dup
n.25+319dup
n.1597dup
c.6013dup (p.Val2005GlyfsTer?)
c.6121dup (p.Val2041GlyfsTer?)
c.6124dup (p.Val2042GlyfsTer?)
c.6097dup (p.Val2033GlyfsTer?)
c.6034dup (p.Val2012GlyfsTer?)
c.5905dup (p.Val1969GlyfsTer?)
c.5893dup (p.Val1965GlyfsTer?)
c.5866dup (p.Val1956GlyfsTer?)
n.6450dup
n.6424dup
c.6220dup (p.Val2074GlyfsTer?)
c.6214dup (p.Val2072GlyfsTer?)
c.6211dup (p.Val2071GlyfsTer?)
c.6106dup (p.Val2036GlyfsTer?)
c.6103dup (p.Val2035GlyfsTer?)
n.6209dup
n.6150dup
n.6195dup
11g.77211230delCA2580084906MYO7Ac.6130del (p.Val2044SerfsTer?)
c.3931del
c.5983del (p.Val1995SerfsTer?)
c.3556del (p.Val1186SerfsTer?)
c.6016del (p.Val2006SerfsTer?)
n.3666del
n.25+319del
n.1597del
c.6013del (p.Val2005SerfsTer?)
c.6121del (p.Val2041SerfsTer?)
c.6124del (p.Val2042SerfsTer?)
c.6097del (p.Val2033SerfsTer?)
c.6034del (p.Val2012SerfsTer?)
c.5905del (p.Val1969SerfsTer?)
c.5893del (p.Val1965SerfsTer?)
c.5866del (p.Val1956SerfsTer?)
n.6450del
n.6424del
c.6220del (p.Val2074SerfsTer?)
c.6214del (p.Val2072SerfsTer?)
c.6211del (p.Val2071SerfsTer?)
c.6106del (p.Val2036SerfsTer?)
c.6103del (p.Val2035SerfsTer?)
n.6209del
n.6150del
n.6195del
 ClinVar
11g.77211229G>ACA475791957MYO7Ac.6129G>A (p.Arg2043=)
c.3930G>A
c.5982G>A (p.Arg1994=)
c.3555G>A (p.Arg1185=)
c.6015G>A (p.Arg2005=)
n.3665G>A
n.25+318G>A
n.1596G>A
c.6012G>A (p.Arg2004=)
c.6120G>A (p.Arg2040=)
c.6123G>A (p.Arg2041=)
c.6096G>A (p.Arg2032=)
c.6033G>A (p.Arg2011=)
c.5904G>A (p.Arg1968=)
c.5892G>A (p.Arg1964=)
c.5865G>A (p.Arg1955=)
n.6449G>A
n.6423G>A
c.6219G>A (p.Arg2073=)
c.6213G>A (p.Arg2071=)
c.6210G>A (p.Arg2070=)
c.6105G>A (p.Arg2035=)
c.6102G>A (p.Arg2034=)
n.6208G>A
n.6149G>A
n.6194G>A
 gnomAD v4
11g.77211229G>CCA381935858MYO7Ac.6129G>C (p.Arg2043Ser)
c.3930G>C
c.5982G>C (p.Arg1994Ser)
c.3555G>C (p.Arg1185Ser)
c.6015G>C (p.Arg2005Ser)
n.3665G>C
n.25+318G>C
n.1596G>C
c.6012G>C (p.Arg2004Ser)
c.6120G>C (p.Arg2040Ser)
c.6123G>C (p.Arg2041Ser)
c.6096G>C (p.Arg2032Ser)
c.6033G>C (p.Arg2011Ser)
c.5904G>C (p.Arg1968Ser)
c.5892G>C (p.Arg1964Ser)
c.5865G>C (p.Arg1955Ser)
n.6449G>C
n.6423G>C
c.6219G>C (p.Arg2073Ser)
c.6213G>C (p.Arg2071Ser)
c.6210G>C (p.Arg2070Ser)
c.6105G>C (p.Arg2035Ser)
c.6102G>C (p.Arg2034Ser)
n.6208G>C
n.6149G>C
n.6194G>C
11g.77211229G=CA1984129869MYO7Ac.6129G= (p.Arg2043=)
c.3930G=
c.5982G= (p.Arg1994=)
c.3555G= (p.Arg1185=)
c.6015G= (p.Arg2005=)
n.3665G=
n.25+318G=
n.1596G=
c.6012G= (p.Arg2004=)
c.6120G= (p.Arg2040=)
c.6123G= (p.Arg2041=)
c.6096G= (p.Arg2032=)
c.6033G= (p.Arg2011=)
c.5904G= (p.Arg1968=)
c.5892G= (p.Arg1964=)
c.5865G= (p.Arg1955=)
n.6449G=
n.6423G=
c.6219G= (p.Arg2073=)
c.6213G= (p.Arg2071=)
c.6210G= (p.Arg2070=)
c.6105G= (p.Arg2035=)
c.6102G= (p.Arg2034=)
n.6208G=
n.6149G=
n.6194G=
11g.77211229G>TCA381935859MYO7Ac.6129G>T (p.Arg2043Ser)
c.3930G>T
c.5982G>T (p.Arg1994Ser)
c.3555G>T (p.Arg1185Ser)
c.6015G>T (p.Arg2005Ser)
n.3665G>T
n.25+318G>T
n.1596G>T
c.6012G>T (p.Arg2004Ser)
c.6120G>T (p.Arg2040Ser)
c.6123G>T (p.Arg2041Ser)
c.6096G>T (p.Arg2032Ser)
c.6033G>T (p.Arg2011Ser)
c.5904G>T (p.Arg1968Ser)
c.5892G>T (p.Arg1964Ser)
c.5865G>T (p.Arg1955Ser)
n.6449G>T
n.6423G>T
c.6219G>T (p.Arg2073Ser)
c.6213G>T (p.Arg2071Ser)
c.6210G>T (p.Arg2070Ser)
c.6105G>T (p.Arg2035Ser)
c.6102G>T (p.Arg2034Ser)
n.6208G>T
n.6149G>T
n.6194G>T
 dbSNP
11g.77211230G>ACA381935864MYO7Ac.6130G>A (p.Val2044Ile)
c.3931G>A
c.5983G>A (p.Val1995Ile)
c.3556G>A (p.Val1186Ile)
c.6016G>A (p.Val2006Ile)
n.3666G>A
n.25+319G>A
n.1597G>A
c.6013G>A (p.Val2005Ile)
c.6121G>A (p.Val2041Ile)
c.6124G>A (p.Val2042Ile)
c.6097G>A (p.Val2033Ile)
c.6034G>A (p.Val2012Ile)
c.5905G>A (p.Val1969Ile)
c.5893G>A (p.Val1965Ile)
c.5866G>A (p.Val1956Ile)
n.6450G>A
n.6424G>A
c.6220G>A (p.Val2074Ile)
c.6214G>A (p.Val2072Ile)
c.6211G>A (p.Val2071Ile)
c.6106G>A (p.Val2036Ile)
c.6103G>A (p.Val2035Ile)
n.6209G>A
n.6150G>A
n.6195G>A
 gnomAD v4
11g.77211230G>CCA381935866MYO7Ac.6130G>C (p.Val2044Leu)
c.3931G>C
c.5983G>C (p.Val1995Leu)
c.3556G>C (p.Val1186Leu)
c.6016G>C (p.Val2006Leu)
n.3666G>C
n.25+319G>C
n.1597G>C
c.6013G>C (p.Val2005Leu)
c.6121G>C (p.Val2041Leu)
c.6124G>C (p.Val2042Leu)
c.6097G>C (p.Val2033Leu)
c.6034G>C (p.Val2012Leu)
c.5905G>C (p.Val1969Leu)
c.5893G>C (p.Val1965Leu)
c.5866G>C (p.Val1956Leu)
n.6450G>C
n.6424G>C
c.6220G>C (p.Val2074Leu)
c.6214G>C (p.Val2072Leu)
c.6211G>C (p.Val2071Leu)
c.6106G>C (p.Val2036Leu)
c.6103G>C (p.Val2035Leu)
n.6209G>C
n.6150G>C
n.6195G>C
11g.77211230G>TCA381935862MYO7Ac.6130G>T (p.Val2044Phe)
c.3931G>T
c.5983G>T (p.Val1995Phe)
c.3556G>T (p.Val1186Phe)
c.6016G>T (p.Val2006Phe)
n.3666G>T
n.25+319G>T
n.1597G>T
c.6013G>T (p.Val2005Phe)
c.6121G>T (p.Val2041Phe)
c.6124G>T (p.Val2042Phe)
c.6097G>T (p.Val2033Phe)
c.6034G>T (p.Val2012Phe)
c.5905G>T (p.Val1969Phe)
c.5893G>T (p.Val1965Phe)
c.5866G>T (p.Val1956Phe)
n.6450G>T
n.6424G>T
c.6220G>T (p.Val2074Phe)
c.6214G>T (p.Val2072Phe)
c.6211G>T (p.Val2071Phe)
c.6106G>T (p.Val2036Phe)
c.6103G>T (p.Val2035Phe)
n.6209G>T
n.6150G>T
n.6195G>T
 gnomAD v4

Number of alleles fetched