Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.77211133C>A | CA600710910 | MYO7A | c.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 |
11 | g.77211133C= | CA1984129805 | MYO7A | c.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= | |
11 | g.77211133C>G | CA600710911 | MYO7A | c.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 |
11 | g.77211133C>T | CA2615262321 | MYO7A | c.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 |
11 | g.77211134C>A | CA2615262325 | MYO7A | c.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 |
11 | g.77211134C= | CA1984129806 | MYO7A | c.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= | |
11 | g.77211134C>G | CA2615262327 | MYO7A | c.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 |
11 | g.77211134C>T | CA1984129807 | MYO7A | c.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 |
11 | g.77211135T>C | CA2615262330 | MYO7A | c.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 |
11 | g.77211135T>G | CA2499221343 | MYO7A | c.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 |
11 | g.77211136G>A | CA680426897 | MYO7A | c.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 |
11 | g.77211136G= | CA1984129809 | MYO7A | c.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= | |
11 | g.77211136G>T | CA2615262335 | MYO7A | c.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 |
11 | g.77211136_77211142delinsGCTCTGT | CA1984129808 | MYO7A | c.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 | |
11 | g.77211137C>A | CA2615262343 | MYO7A | c.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 |
11 | g.77211137C= | CA1984129810 | MYO7A | c.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= | |
11 | g.77211137C>T | CA600710912 | MYO7A | c.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 |
11 | g.77211142_77211147del | CA6198920 | MYO7A | c.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 |
11 | g.77211138T>C | CA600710913 | MYO7A | c.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 |
11 | g.77211138T= | CA1984129811 | MYO7A | c.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= | |
11 | g.77211139C>A | CA2615262350 | MYO7A | c.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 |
11 | g.77211139C= | CA1984129812 | MYO7A | c.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= | |
11 | g.77211139C>G | CA6198921 | MYO7A | c.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 |
11 | g.77211139C>T | CA1984129813 | MYO7A | c.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 |
11 | g.77211140T>C | CA2615262352 | MYO7A | c.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 |
11 | g.77211140dup | CA2842899097 | MYO7A | c.6052-12dup (n.6052-12dup) c.3853-12dup c.5905-12dup (n.5905-12dup) c.3478-12dup (n.3478-12dup) c.5938-12dup (n.5938-12dup) n.3588-12dup n.25+229dup n.1519-12dup c.5935-12dup (n.5935-12dup) c.6043-12dup (n.6043-12dup) c.6046-12dup (n.6046-12dup) c.6019-12dup (n.6019-12dup) c.5956-12dup (n.5956-12dup) c.5827-12dup (n.5827-12dup) c.5815-12dup (n.5815-12dup) c.5788-12dup (n.5788-12dup) n.6372-12dup n.6346-12dup c.6142-12dup (n.6142-12dup) c.6136-12dup (n.6136-12dup) c.6133-12dup (n.6133-12dup) c.6028-12dup (n.6028-12dup) c.6025-12dup (n.6025-12dup) n.6131-12dup n.6072-12dup n.6117-12dup | |
11 | g.77211141G>A | CA6198923 | MYO7A | c.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 |
11 | g.77211141G>C | CA132417 | MYO7A | c.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 |
11 | g.77211141G= | CA1984129815 | MYO7A | c.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= | |
11 | g.77211141G>T | CA2581047395 | MYO7A | c.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 |
11 | g.77211141_77211143delinsGTC | CA1984129814 | MYO7A | c.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 | |
11 | g.77211145_77211146del | CA6198922 | MYO7A | c.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 |
11 | g.77211143C>A | CA2615262373 | MYO7A | c.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 |
11 | g.77211143C= | CA1984129816 | MYO7A | c.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= | |
11 | g.77211143C>G | CA2615262374 | MYO7A | c.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 |
11 | g.77211143C>T | CA6198924 | MYO7A | c.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 |
11 | g.77211145C>A | CA2615262381 | MYO7A | c.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 |
11 | g.77211145C= | CA1984129817 | MYO7A | c.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= | |
11 | g.77211145C>G | CA1984129818 | MYO7A | c.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 |
11 | g.77211145C>T | CA224827580 | MYO7A | c.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 |
11 | g.77211146T>A | CA2615262385 | MYO7A | c.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 |
11 | g.77211147G>A | CA2580084902 | MYO7A | c.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 |
11 | g.77211147G>T | CA2615262388 | MYO7A | c.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 |
11 | g.77211148A= | CA1984129819 | MYO7A | c.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= | |
11 | g.77211148A>G | CA6198925 | MYO7A | c.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 |
11 | g.77211149C>A | CA2615262397 | MYO7A | c.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 |
11 | g.77211149C= | CA1984129820 | MYO7A | c.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= | |
11 | g.77211149C>T | CA6198927 | MYO7A | c.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 |
11 | g.77211151_77211152insAGCAG | CA6198926 | MYO7A | c.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 |
11 | g.77211150A>C | CA381935395 | MYO7A | c.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 | |
11 | g.77211150A>G | CA381935397 | MYO7A | c.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 |
11 | g.77211150A>T | CA381935399 | MYO7A | c.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 | |
11 | g.77211150_77211151del | CA2615262399 | MYO7A | c.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 |
11 | g.77211151G>A | CA381935401 | MYO7A | c.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 |
11 | g.77211151G>C | CA6198928 | MYO7A | c.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 |
11 | g.77211151G= | CA1984129821 | MYO7A | c.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= | |
11 | g.77211151G>T | CA381935404 | MYO7A | c.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 |
11 | g.77211152G>A | CA381935409 | MYO7A | c.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 |
11 | g.77211152G>C | CA381935411 | MYO7A | c.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 | |
11 | g.77211152G>T | CA381935413 | MYO7A | c.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 |
11 | g.77211153A>C | CA381935416 | MYO7A | c.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 | |
11 | g.77211153A>G | CA381935418 | MYO7A | c.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 | |
11 | g.77211153A>T | CA381935419 | MYO7A | c.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 |
11 | g.77211154G>A | CA475791866 | MYO7A | c.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 |
11 | g.77211154G>C | CA381935423 | MYO7A | c.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 | |
11 | g.77211154G= | CA1984129822 | MYO7A | c.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= | |
11 | g.77211154G>T | CA381935425 | MYO7A | c.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 | |
11 | g.77211155T>A | CA381935427 | MYO7A | c.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 | |
11 | g.77211155T>C | CA475791867 | MYO7A | c.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 |
11 | g.77211155T>G | CA381935429 | MYO7A | c.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 | |
11 | g.77211156T>A | CA381935438 | MYO7A | c.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 | |
11 | g.77211156T>C | CA381935435 | MYO7A | c.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 |
11 | g.77211156T>G | CA381935433 | MYO7A | c.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 | |
11 | g.77211157G>A | CA6198929 | MYO7A | c.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 |
11 | g.77211157G>C | CA381935440 | MYO7A | c.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 | |
11 | g.77211157G= | CA1984129823 | MYO7A | c.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= | |
11 | g.77211157G>T | CA381935442 | MYO7A | c.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 |
11 | g.77211158C>A | CA381935444 | MYO7A | c.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 |
11 | g.77211158C= | CA1984129824 | MYO7A | c.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= | |
11 | g.77211158C>G | CA381935446 | MYO7A | c.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 | |
11 | g.77211158C>T | CA381935449 | MYO7A | c.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 |
11 | g.77211159C>A | CA381935457 | MYO7A | c.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 |
11 | g.77211159C= | CA1984129825 | MYO7A | c.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= | |
11 | g.77211159C>G | CA381935455 | MYO7A | c.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 | |
11 | g.77211159C>T | CA381935453 | MYO7A | c.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 |
11 | g.77211160C>A | CA475791869 | MYO7A | c.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 |
11 | g.77211160C= | CA1984129826 | MYO7A | c.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= | |
11 | g.77211160C>G | CA475791871 | MYO7A | c.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 | |
11 | g.77211160C>T | CA475791872 | MYO7A | c.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 |
11 | g.77211161A>C | CA381935461 | MYO7A | c.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 | |
11 | g.77211161A>G | CA381935462 | MYO7A | c.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 |
11 | g.77211161A>T | CA381935464 | MYO7A | c.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 | |
11 | g.77211162A= | CA1984129827 | MYO7A | c.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= | |
11 | g.77211162A>C | CA381935467 | MYO7A | c.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 | |
11 | g.77211162A>G | CA10576905 | MYO7A | c.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 |
11 | g.77211162A>T | CA381935470 | MYO7A | c.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 |
11 | g.77211162_77211163delinsGA | CA2697548854 | MYO7A | c.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 |
11 | g.77211163G>A | CA132418 | MYO7A | c.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 |
11 | g.77211163G>C | CA381935488 | MYO7A | c.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 | |
11 | g.77211163G= | CA1984129828 | MYO7A | c.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= | |
11 | g.77211163G>T | CA381935486 | MYO7A | c.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 | |
11 | g.77211164T>A | CA381935493 | MYO7A | c.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 | |
11 | g.77211164T>C | CA381935495 | MYO7A | c.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 |
11 | g.77211164T>G | CA381935497 | MYO7A | c.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 | |
11 | g.77211164T= | CA1984129829 | MYO7A | c.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= | |
11 | g.77211165A>C | CA381935500 | MYO7A | c.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 | |
11 | g.77211165A>G | CA381935502 | MYO7A | c.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 | |
11 | g.77211165A>T | CA381935503 | MYO7A | c.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 | |
11 | g.77211166T>A | CA381935505 | MYO7A | c.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 | |
11 | g.77211166T>C | CA475791876 | MYO7A | c.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 |
11 | g.77211166T>G | CA381935507 | MYO7A | c.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 | |
11 | g.77211166T= | CA1984129830 | MYO7A | c.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= | |
11 | g.77211167C>A | CA381935510 | MYO7A | c.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 |
11 | g.77211167C>G | CA381935513 | MYO7A | c.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 | |
11 | g.77211167C>T | CA381935515 | MYO7A | c.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 |
11 | g.77211168T>A | CA381935518 | MYO7A | c.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 |
11 | g.77211168T>C | CA381935521 | MYO7A | c.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 |
11 | g.77211168T>G | CA381935520 | MYO7A | c.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 | |
11 | g.77211169C>A | CA475791877 | MYO7A | c.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 |
11 | g.77211169C= | CA1984129831 | MYO7A | c.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= | |
11 | g.77211169C>G | CA475791878 | MYO7A | c.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 |
11 | g.77211169C>T | CA475791879 | MYO7A | c.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 |
11 | g.77211170C>A | CA475791881 | MYO7A | c.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 |
11 | g.77211170C= | CA1984129832 | MYO7A | c.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= | |
11 | g.77211170C>G | CA381935523 | MYO7A | c.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 | |
11 | g.77211170C>T | CA278705 | MYO7A | c.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 |
11 | g.77211170_77211171insAGCCTCAGCT | CA2533697229 | MYO7A | c.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 | |
11 | g.77211171G>A | CA6198930 | MYO7A | c.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 |
11 | g.77211171G>C | CA381935528 | MYO7A | c.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 |
11 | g.77211171G= | CA1984129833 | MYO7A | c.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= | |
11 | g.77211171G>T | CA381935530 | MYO7A | c.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 |
11 | g.77211172A>C | CA475791885 | MYO7A | c.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 | |
11 | g.77211172A>G | CA475791883 | MYO7A | c.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 | |
11 | g.77211172A>T | CA475791882 | MYO7A | c.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 |
11 | g.77211173G>A | CA381935533 | MYO7A | c.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 |
11 | g.77211173G>C | CA381935535 | MYO7A | c.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 | |
11 | g.77211173G>T | CA381935538 | MYO7A | c.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 |
11 | g.77211174G>A | CA381935541 | MYO7A | c.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 |
11 | g.77211174G>C | CA381935543 | MYO7A | c.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 | |
11 | g.77211174G>T | CA381935545 | MYO7A | c.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 |
11 | g.77211175C>A | CA475791889 | MYO7A | c.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 |
11 | g.77211175C>G | CA475791888 | MYO7A | c.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 | |
11 | g.77211175C>T | CA475791887 | MYO7A | c.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 |
11 | g.77211176T>A | CA381935553 | MYO7A | c.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 | |
11 | g.77211176T>C | CA381935551 | MYO7A | c.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 |
11 | g.77211176T>G | CA381935548 | MYO7A | c.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 | |
11 | g.77211176_77211179delinsTACC | CA1984129834 | MYO7A | c.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 | |
11 | g.77211177A>C | CA381935556 | MYO7A | c.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 | |
11 | g.77211177A>G | CA381935559 | MYO7A | c.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 | |
11 | g.77211177A>T | CA381935561 | MYO7A | c.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 |
11 | g.77211179_77211181del | CA1984129835 | MYO7A | c.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 |
11 | g.77211178C>A | CA381935564 | MYO7A | c.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 |
11 | g.77211178C>G | CA381935565 | MYO7A | c.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 | |
11 | g.77211178C>T | CA475791892 | MYO7A | c.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 |
11 | g.77211179C>A | CA381935569 | MYO7A | c.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 |
11 | g.77211179C>G | CA381935571 | MYO7A | c.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 | |
11 | g.77211179C>T | CA381935574 | MYO7A | c.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 |
11 | g.77211180A= | CA1984129836 | MYO7A | c.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= | |
11 | g.77211180A>C | CA381935577 | MYO7A | c.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 |
11 | g.77211180A>G | CA6198931 | MYO7A | c.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 |
11 | g.77211180A>T | CA381935580 | MYO7A | c.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 |
11 | g.77211181C>A | CA6198932 | MYO7A | c.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 |
11 | g.77211181C= | CA1984129837 | MYO7A | c.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= | |
11 | g.77211181C>G | CA381935585 | MYO7A | c.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 | |
11 | g.77211181C>T | CA475791898 | MYO7A | c.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 |
11 | g.77211182A>C | CA381935590 | MYO7A | c.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 |
11 | g.77211182A>G | CA381935592 | MYO7A | c.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 |
11 | g.77211182A>T | CA381935588 | MYO7A | c.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 |
11 | g.77211183A= | CA1984129838 | MYO7A | c.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= | |
11 | g.77211183A>C | CA381935597 | MYO7A | c.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 |
11 | g.77211183A>G | CA381935594 | MYO7A | c.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 | |
11 | g.77211183A>T | CA381935600 | MYO7A | c.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 |
11 | g.77211184G>A | CA475791900 | MYO7A | c.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 |
11 | g.77211184G>C | CA381935602 | MYO7A | c.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 | |
11 | g.77211184G>T | CA381935604 | MYO7A | c.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 |
11 | g.77211185T>A | CA381935607 | MYO7A | c.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 | |
11 | g.77211185T>C | CA381935609 | MYO7A | c.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 |
11 | g.77211185T>G | CA381935616 | MYO7A | c.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 | |
11 | g.77211186G>A | CA381935619 | MYO7A | c.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 |
11 | g.77211186G>C | CA381935621 | MYO7A | c.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 | |
11 | g.77211186G>T | CA381935623 | MYO7A | c.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 |
11 | g.77211187C>A | CA381935626 | MYO7A | c.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 |
11 | g.77211187C= | CA1984129839 | MYO7A | c.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= | |
11 | g.77211187C>G | CA381935627 | MYO7A | c.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 | |
11 | g.77211187C>T | CA475791904 | MYO7A | c.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 |
11 | g.77211188A= | CA1984129840 | MYO7A | c.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= | |
11 | g.77211188A>C | CA381935631 | MYO7A | c.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 | |
11 | g.77211188A>G | CA381935633 | MYO7A | c.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 |
11 | g.77211188A>T | CA381935635 | MYO7A | c.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 | |
11 | g.77211189del | CA2499221344 | MYO7A | c.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 |
11 | g.77211189C>A | CA381935640 | MYO7A | c.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 |
11 | g.77211189C= | CA1984129841 | MYO7A | c.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= | |
11 | g.77211189C>G | CA381935638 | MYO7A | c.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 |
11 | g.77211189C>T | CA6198933 | MYO7A | c.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 |
11 | g.77211189dup | CA2842899099 | MYO7A | c.6089dup (p.Arg2031AlafsTer?) c.3890dup c.5942dup (p.Arg1982AlafsTer?) c.3515dup (p.Arg1173AlafsTer?) c.5975dup (p.Arg1993AlafsTer?) n.3625dup n.25+278dup n.1556dup c.5972dup (p.Arg1992AlafsTer?) c.6080dup (p.Arg2028AlafsTer?) c.6083dup (p.Arg2029AlafsTer?) c.6056dup (p.Arg2020AlafsTer?) c.5993dup (p.Arg1999AlafsTer?) c.5864dup (p.Arg1956AlafsTer?) c.5852dup (p.Arg1952AlafsTer?) c.5825dup (p.Arg1943AlafsTer?) n.6409dup n.6383dup c.6179dup (p.Arg2061AlafsTer?) c.6173dup (p.Arg2059AlafsTer?) c.6170dup (p.Arg2058AlafsTer?) c.6065dup (p.Arg2023AlafsTer?) c.6062dup (p.Arg2022AlafsTer?) n.6168dup n.6109dup n.6154dup | |
11 | g.77211190G>A | CA475791905 | MYO7A | c.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 |
11 | g.77211190G>C | CA475791907 | MYO7A | c.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 |
11 | g.77211190G= | CA1984129842 | MYO7A | c.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= | |
11 | g.77211190G>T | CA475791909 | MYO7A | c.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 |
11 | g.77211191C>A | CA475791911 | MYO7A | c.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 |
11 | g.77211191C= | CA1984129843 | MYO7A | c.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= | |
11 | g.77211191C>G | CA381935647 | MYO7A | c.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 | |
11 | g.77211191C>T | CA6198934 | MYO7A | c.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 |
11 | g.77211192G>A | CA6198935 | MYO7A | c.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 |
11 | g.77211192G>C | CA381935654 | MYO7A | c.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 |
11 | g.77211192G= | CA1984129844 | MYO7A | c.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= | |
11 | g.77211192G>T | CA381935656 | MYO7A | c.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 |
11 | g.77211194del | CA2615262498 | MYO7A | c.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 |
11 | g.77211193G>A | CA475791914 | MYO7A | c.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 |
11 | g.77211193G>C | CA224827661 | MYO7A | c.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 |
11 | g.77211193G= | CA1984129845 | MYO7A | c.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= | |
11 | g.77211193G>T | CA475791913 | MYO7A | c.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 |
11 | g.77211194G>A | CA381935659 | MYO7A | c.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 |
11 | g.77211194G>C | CA381935661 | MYO7A | c.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 |
11 | g.77211194G= | CA1984129846 | MYO7A | c.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= | |
11 | g.77211194G>T | CA381935663 | MYO7A | c.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 |
11 | g.77211195A>C | CA381935667 | MYO7A | c.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 | |
11 | g.77211195A>G | CA381935669 | MYO7A | c.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 |
11 | g.77211195A>T | CA381935670 | MYO7A | c.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 | |
11 | g.77211196G>A | CA6198936 | MYO7A | c.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 |
11 | g.77211196G>C | CA381935674 | MYO7A | c.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 |
11 | g.77211196G= | CA1984129847 | MYO7A | c.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= | |
11 | g.77211196G>T | CA381935672 | MYO7A | c.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 |
11 | g.77211197G>A | CA381935677 | MYO7A | c.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 | |
11 | g.77211197G>C | CA381935679 | MYO7A | c.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 | |
11 | g.77211197G>T | CA381935682 | MYO7A | c.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 |
11 | g.77211198A>C | CA381935685 | MYO7A | c.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 | |
11 | g.77211198A>G | CA381935687 | MYO7A | c.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 |
11 | g.77211198A>T | CA381935689 | MYO7A | c.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 |
11 | g.77211199G>A | CA475791916 | MYO7A | c.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 |
11 | g.77211199G>C | CA381935692 | MYO7A | c.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 | |
11 | g.77211199G>T | CA381935694 | MYO7A | c.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 |
11 | g.77211200G>A | CA381935698 | MYO7A | c.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 |
11 | g.77211200G>C | CA381935702 | MYO7A | c.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 | |
11 | g.77211200G= | CA1984129848 | MYO7A | c.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= | |
11 | g.77211200G>T | CA381935704 | MYO7A | c.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 |
11 | g.77211201T>A | CA381935707 | MYO7A | c.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 | |
11 | g.77211201T>C | CA381935710 | MYO7A | c.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 |
11 | g.77211201T>G | CA381935712 | MYO7A | c.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 |
11 | g.77211201T= | CA1984129849 | MYO7A | c.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= | |
11 | g.77211202G>A | CA475791918 | MYO7A | c.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 |
11 | g.77211202G>C | CA475791919 | MYO7A | c.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 | |
11 | g.77211202G= | CA1984129850 | MYO7A | c.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= | |
11 | g.77211202G>T | CA475791921 | MYO7A | c.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 |
11 | g.77211202_77211206delinsGCTGC | CA1984129851 | MYO7A | c.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 | |
11 | g.77211203C>A | CA381935714 | MYO7A | c.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 |
11 | g.77211203C>G | CA381935717 | MYO7A | c.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 |
11 | g.77211203C>T | CA475791922 | MYO7A | c.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 |
11 | g.77211203_77211206del | CA918919129 | MYO7A | c.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 |
11 | g.77211204T>A | CA381935724 | MYO7A | c.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 |
11 | g.77211204T>C | CA381935726 | MYO7A | c.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 |
11 | g.77211204T>G | CA381935728 | MYO7A | c.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 | |
11 | g.77211205G>A | CA475791927 | MYO7A | c.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 |
11 | g.77211205G>C | CA475791923 | MYO7A | c.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 | |
11 | g.77211205G= | CA1984129852 | MYO7A | c.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= | |
11 | g.77211205G>T | CA475791925 | MYO7A | c.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 |
11 | g.77211206C>A | CA381935732 | MYO7A | c.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 |
11 | g.77211206C= | CA1984129853 | MYO7A | c.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= | |
11 | g.77211206C>G | CA381935734 | MYO7A | c.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 | |
11 | g.77211206C>T | CA381935736 | MYO7A | c.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 |
11 | g.77211207A= | CA1984129854 | MYO7A | c.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= | |
11 | g.77211207A>C | CA381935740 | MYO7A | c.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 | |
11 | g.77211207A>G | CA381935742 | MYO7A | c.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 |
11 | g.77211207A>T | CA381935744 | MYO7A | c.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 |
11 | g.77211208G>A | CA6198937 | MYO7A | c.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 |
11 | g.77211208G>C | CA381935748 | MYO7A | c.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 |
11 | g.77211208G= | CA1984129855 | MYO7A | c.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= | |
11 | g.77211208G>T | CA381935750 | MYO7A | c.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 |
11 | g.77211209C>A | CA381935755 | MYO7A | c.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 |
11 | g.77211209C>G | CA381935753 | MYO7A | c.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 | |
11 | g.77211209C>T | CA475791932 | MYO7A | c.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 |
11 | g.77211210T>A | CA381935758 | MYO7A | c.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 | |
11 | g.77211210T>C | CA381935763 | MYO7A | c.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 | |
11 | g.77211210T>G | CA381935760 | MYO7A | c.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 | |
11 | g.77211211G>A | CA6198938 | MYO7A | c.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 |
11 | g.77211211G>C | CA475791936 | MYO7A | c.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 | |
11 | g.77211211G= | CA1984129856 | MYO7A | c.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= | |
11 | g.77211211G>T | CA475791937 | MYO7A | c.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 | |
11 | g.77211215dup | CA2838200070 | MYO7A | c.6115dup (p.Ala2039GlyfsTer?) c.3916dup c.5968dup (p.Ala1990GlyfsTer?) c.3541dup (p.Ala1181GlyfsTer?) c.6001dup (p.Ala2001GlyfsTer?) n.3651dup n.25+304dup n.1582dup c.5998dup (p.Ala2000GlyfsTer?) c.6106dup (p.Ala2036GlyfsTer?) c.6109dup (p.Ala2037GlyfsTer?) c.6082dup (p.Ala2028GlyfsTer?) c.6019dup (p.Ala2007GlyfsTer?) c.5890dup (p.Ala1964GlyfsTer?) c.5878dup (p.Ala1960GlyfsTer?) c.5851dup (p.Ala1951GlyfsTer?) n.6435dup n.6409dup c.6205dup (p.Ala2069GlyfsTer?) c.6199dup (p.Ala2067GlyfsTer?) c.6196dup (p.Ala2066GlyfsTer?) c.6091dup (p.Ala2031GlyfsTer?) c.6088dup (p.Ala2030GlyfsTer?) n.6194dup n.6135dup n.6180dup | |
11 | g.77211215del | CA2615262574 | MYO7A | c.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 |
11 | g.77211214_77211215del | CA2574931907 | MYO7A | c.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 |
11 | g.77211212G>A | CA381935765 | MYO7A | c.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 |
11 | g.77211212G>C | CA381935768 | MYO7A | c.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 | |
11 | g.77211212G= | CA1984129857 | MYO7A | c.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= | |
11 | g.77211212G>T | CA381935770 | MYO7A | c.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 |
11 | g.77211213G>A | CA381935774 | MYO7A | c.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 |
11 | g.77211213G>C | CA381935776 | MYO7A | c.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 | |
11 | g.77211213G= | CA1984129858 | MYO7A | c.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= | |
11 | g.77211213G>T | CA381935778 | MYO7A | c.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 |
11 | g.77211214G>A | CA224827699 | MYO7A | c.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 |
11 | g.77211214G>C | CA475791938 | MYO7A | c.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 | |
11 | g.77211214G= | CA1984129859 | MYO7A | c.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= | |
11 | g.77211214G>T | CA475791940 | MYO7A | c.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 |
11 | g.77211215G>A | CA381935782 | MYO7A | c.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 |
11 | g.77211215G>C | CA381935785 | MYO7A | c.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 | |
11 | g.77211215G= | CA1984129860 | MYO7A | c.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= | |
11 | g.77211215G>T | CA381935788 | MYO7A | c.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 |
11 | g.77211216C>A | CA381935791 | MYO7A | c.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 |
11 | g.77211216C= | CA1984129861 | MYO7A | c.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= | |
11 | g.77211216C>G | CA381935793 | MYO7A | c.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 | |
11 | g.77211216C>T | CA224827704 | MYO7A | c.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 |
11 | g.77211217G>A | CA6198939 | MYO7A | c.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 |
11 | g.77211217G>C | CA475791944 | MYO7A | c.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 | |
11 | g.77211217G= | CA1984129862 | MYO7A | c.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= | |
11 | g.77211217G>T | CA475791945 | MYO7A | c.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 |
11 | g.77211218C>A | CA381935800 | MYO7A | c.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 |
11 | g.77211218C>G | CA381935802 | MYO7A | c.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 | |
11 | g.77211218C>T | CA475791946 | MYO7A | c.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 |
11 | g.77211219T>A | CA381935806 | MYO7A | c.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 |
11 | g.77211219T>C | CA381935809 | MYO7A | c.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 | |
11 | g.77211219T>G | CA381935811 | MYO7A | c.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 | |
11 | g.77211220G>A | CA475791947 | MYO7A | c.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 |
11 | g.77211220G>C | CA475791948 | MYO7A | c.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 |
11 | g.77211220G= | CA1984129863 | MYO7A | c.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= | |
11 | g.77211220G>T | CA475791949 | MYO7A | c.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 |
11 | g.77211221A>C | CA381935813 | MYO7A | c.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 | |
11 | g.77211221A>G | CA381935814 | MYO7A | c.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 |
11 | g.77211221A>T | CA381935815 | MYO7A | c.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 | |
11 | g.77211222T>A | CA381935816 | MYO7A | c.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 | |
11 | g.77211222T>C | CA381935818 | MYO7A | c.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 |
11 | g.77211222T>G | CA381935820 | MYO7A | c.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 | |
11 | g.77211222T= | CA1984129864 | MYO7A | c.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= | |
11 | g.77211223C>A | CA475791950 | MYO7A | c.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 |
11 | g.77211223C= | CA1984129865 | MYO7A | c.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= | |
11 | g.77211223C>G | CA381935823 | MYO7A | c.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 | |
11 | g.77211223C>T | CA6198940 | MYO7A | c.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 |
11 | g.77211224T>A | CA381935830 | MYO7A | c.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 | |
11 | g.77211224T>C | CA381935828 | MYO7A | c.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 | |
11 | g.77211224T>G | CA381935825 | MYO7A | c.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 | |
11 | g.77211224dup | CA2740093151 | MYO7A | c.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 |
11 | g.77211225A>C | CA381935833 | MYO7A | c.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 | |
11 | g.77211225A>G | CA381935836 | MYO7A | c.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 |
11 | g.77211225A>T | CA381935838 | MYO7A | c.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 | |
11 | g.77211226C>A | CA381935841 | MYO7A | c.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 |
11 | g.77211226C= | CA1984129866 | MYO7A | c.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= | |
11 | g.77211226C>G | CA381935843 | MYO7A | c.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 |
11 | g.77211226C>T | CA475791954 | MYO7A | c.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 |
11 | g.77211227A= | CA1984129867 | MYO7A | c.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= | |
11 | g.77211227A>C | CA475791956 | MYO7A | c.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 |
11 | g.77211227A>G | CA381935846 | MYO7A | c.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 | |
11 | g.77211227A>T | CA381935848 | MYO7A | c.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 | |
11 | g.77211228G>A | CA381935851 | MYO7A | c.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 | |
11 | g.77211228G>C | CA381935853 | MYO7A | c.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 |
11 | g.77211228G= | CA1984129868 | MYO7A | c.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= | |
11 | g.77211228G>T | CA381935855 | MYO7A | c.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 | |
11 | g.77211230dup | CA2792788393 | MYO7A | c.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 | |
11 | g.77211230del | CA2580084906 | MYO7A | c.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 |
11 | g.77211229G>A | CA475791957 | MYO7A | c.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 |
11 | g.77211229G>C | CA381935858 | MYO7A | c.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 | |
11 | g.77211229G= | CA1984129869 | MYO7A | c.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= | |
11 | g.77211229G>T | CA381935859 | MYO7A | c.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 |
11 | g.77211230G>A | CA381935864 | MYO7A | c.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 |
11 | g.77211230G>C | CA381935866 | MYO7A | c.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 | |
11 | g.77211230G>T | CA381935862 | MYO7A | c.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 |
11 | g.77211231T>A | CA381935870 | MYO7A | c.6131T>A (p.Val2044Asp) c.3932T>A c.5984T>A (p.Val1995Asp) c.3557T>A (p.Val1186Asp) c.6017T>A (p.Val2006Asp) n.3667T>A n.25+320T>A n.1598T>A c.6014T>A (p.Val2005Asp) c.6122T>A (p.Val2041Asp) c.6125T>A (p.Val2042Asp) c.6098T>A (p.Val2033Asp) c.6035T>A (p.Val2012Asp) c.5906T>A (p.Val1969Asp) c.5894T>A (p.Val1965Asp) c.5867T>A (p.Val1956Asp) n.6451T>A n.6425T>A c.6221T>A (p.Val2074Asp) c.6215T>A (p.Val2072Asp) c.6212T>A (p.Val2071Asp) c.6107T>A (p.Val2036Asp) c.6104T>A (p.Val2035Asp) n.6210T>A n.6151T>A n.6196T>A | |
11 | g.77211231T>C | CA381935872 | MYO7A | c.6131T>C (p.Val2044Ala) c.3932T>C c.5984T>C (p.Val1995Ala) c.3557T>C (p.Val1186Ala) c.6017T>C (p.Val2006Ala) n.3667T>C n.25+320T>C n.1598T>C c.6014T>C (p.Val2005Ala) c.6122T>C (p.Val2041Ala) c.6125T>C (p.Val2042Ala) c.6098T>C (p.Val2033Ala) c.6035T>C (p.Val2012Ala) c.5906T>C (p.Val1969Ala) c.5894T>C (p.Val1965Ala) c.5867T>C (p.Val1956Ala) n.6451T>C n.6425T>C c.6221T>C (p.Val2074Ala) c.6215T>C (p.Val2072Ala) c.6212T>C (p.Val2071Ala) c.6107T>C (p.Val2036Ala) c.6104T>C (p.Val2035Ala) n.6210T>C n.6151T>C n.6196T>C | gnomAD v4 |
11 | g.77211231T>G | CA381935873 | MYO7A | c.6131T>G (p.Val2044Gly) c.3932T>G c.5984T>G (p.Val1995Gly) c.3557T>G (p.Val1186Gly) c.6017T>G (p.Val2006Gly) n.3667T>G n.25+320T>G n.1598T>G c.6014T>G (p.Val2005Gly) c.6122T>G (p.Val2041Gly) c.6125T>G (p.Val2042Gly) c.6098T>G (p.Val2033Gly) c.6035T>G (p.Val2012Gly) c.5906T>G (p.Val1969Gly) c.5894T>G (p.Val1965Gly) c.5867T>G (p.Val1956Gly) n.6451T>G n.6425T>G c.6221T>G (p.Val2074Gly) c.6215T>G (p.Val2072Gly) c.6212T>G (p.Val2071Gly) c.6107T>G (p.Val2036Gly) c.6104T>G (p.Val2035Gly) n.6210T>G n.6151T>G n.6196T>G | |
11 | g.77211232C>A | CA475791961 | MYO7A | c.6132C>A (p.Val2044=) c.3933C>A c.5985C>A (p.Val1995=) c.3558C>A (p.Val1186=) c.6018C>A (p.Val2006=) n.3668C>A n.25+321C>A n.1599C>A c.6015C>A (p.Val2005=) c.6123C>A (p.Val2041=) c.6126C>A (p.Val2042=) c.6099C>A (p.Val2033=) c.6036C>A (p.Val2012=) c.5907C>A (p.Val1969=) c.5895C>A (p.Val1965=) c.5868C>A (p.Val1956=) n.6452C>A n.6426C>A c.6222C>A (p.Val2074=) c.6216C>A (p.Val2072=) c.6213C>A (p.Val2071=) c.6108C>A (p.Val2036=) c.6105C>A (p.Val2035=) n.6211C>A n.6152C>A n.6197C>A | gnomAD v4 |
11 | g.77211232C>G | CA475791963 | MYO7A | c.6132C>G (p.Val2044=) c.3933C>G c.5985C>G (p.Val1995=) c.3558C>G (p.Val1186=) c.6018C>G (p.Val2006=) n.3668C>G n.25+321C>G n.1599C>G c.6015C>G (p.Val2005=) c.6123C>G (p.Val2041=) c.6126C>G (p.Val2042=) c.6099C>G (p.Val2033=) c.6036C>G (p.Val2012=) c.5907C>G (p.Val1969=) c.5895C>G (p.Val1965=) c.5868C>G (p.Val1956=) n.6452C>G n.6426C>G c.6222C>G (p.Val2074=) c.6216C>G (p.Val2072=) c.6213C>G (p.Val2071=) c.6108C>G (p.Val2036=) c.6105C>G (p.Val2035=) n.6211C>G n.6152C>G n.6197C>G | |
11 | g.77211232C>T | CA475791964 | MYO7A | c.6132C>T (p.Val2044=) c.3933C>T c.5985C>T (p.Val1995=) c.3558C>T (p.Val1186=) c.6018C>T (p.Val2006=) n.3668C>T n.25+321C>T n.1599C>T c.6015C>T (p.Val2005=) c.6123C>T (p.Val2041=) c.6126C>T (p.Val2042=) c.6099C>T (p.Val2033=) c.6036C>T (p.Val2012=) c.5907C>T (p.Val1969=) c.5895C>T (p.Val1965=) c.5868C>T (p.Val1956=) n.6452C>T n.6426C>T c.6222C>T (p.Val2074=) c.6216C>T (p.Val2072=) c.6213C>T (p.Val2071=) c.6108C>T (p.Val2036=) c.6105C>T (p.Val2035=) n.6211C>T n.6152C>T n.6197C>T | |
11 | g.77211233A>C | CA381935874 | MYO7A | c.6133A>C (p.Lys2045Gln) c.3934A>C c.5986A>C (p.Lys1996Gln) c.3559A>C (p.Lys1187Gln) c.6019A>C (p.Lys2007Gln) n.3669A>C n.25+322A>C n.1600A>C c.6016A>C (p.Lys2006Gln) c.6124A>C (p.Lys2042Gln) c.6127A>C (p.Lys2043Gln) c.6100A>C (p.Lys2034Gln) c.6037A>C (p.Lys2013Gln) c.5908A>C (p.Lys1970Gln) c.5896A>C (p.Lys1966Gln) c.5869A>C (p.Lys1957Gln) n.6453A>C n.6427A>C c.6223A>C (p.Lys2075Gln) c.6217A>C (p.Lys2073Gln) c.6214A>C (p.Lys2072Gln) c.6109A>C (p.Lys2037Gln) c.6106A>C (p.Lys2036Gln) n.6212A>C n.6153A>C n.6198A>C | |
11 | g.77211233A>G | CA381935875 | MYO7A | c.6133A>G (p.Lys2045Glu) c.3934A>G c.5986A>G (p.Lys1996Glu) c.3559A>G (p.Lys1187Glu) c.6019A>G (p.Lys2007Glu) n.3669A>G n.25+322A>G n.1600A>G c.6016A>G (p.Lys2006Glu) c.6124A>G (p.Lys2042Glu) c.6127A>G (p.Lys2043Glu) c.6100A>G (p.Lys2034Glu) c.6037A>G (p.Lys2013Glu) c.5908A>G (p.Lys1970Glu) c.5896A>G (p.Lys1966Glu) c.5869A>G (p.Lys1957Glu) n.6453A>G n.6427A>G c.6223A>G (p.Lys2075Glu) c.6217A>G (p.Lys2073Glu) c.6214A>G (p.Lys2072Glu) c.6109A>G (p.Lys2037Glu) c.6106A>G (p.Lys2036Glu) n.6212A>G n.6153A>G n.6198A>G | gnomAD v4 |
11 | g.77211233A>T | CA381935876 | MYO7A | c.6133A>T (p.Lys2045Ter) c.3934A>T c.5986A>T (p.Lys1996Ter) c.3559A>T (p.Lys1187Ter) c.6019A>T (p.Lys2007Ter) n.3669A>T n.25+322A>T n.1600A>T c.6016A>T (p.Lys2006Ter) c.6124A>T (p.Lys2042Ter) c.6127A>T (p.Lys2043Ter) c.6100A>T (p.Lys2034Ter) c.6037A>T (p.Lys2013Ter) c.5908A>T (p.Lys1970Ter) c.5896A>T (p.Lys1966Ter) c.5869A>T (p.Lys1957Ter) n.6453A>T n.6427A>T c.6223A>T (p.Lys2075Ter) c.6217A>T (p.Lys2073Ter) c.6214A>T (p.Lys2072Ter) c.6109A>T (p.Lys2037Ter) c.6106A>T (p.Lys2036Ter) n.6212A>T n.6153A>T n.6198A>T |