Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.18145841A>T | CA2808664850 | MYO15A | c.6274-31A>T (n.6274-31A>T) c.6214-31A>T (n.6214-31A>T) c.6268-31A>T (n.6268-31A>T) n.6873-31A>T c.6277-31A>T (n.6277-31A>T) c.6213+1249A>T (n.6213+1249A>T) | |
17 | g.18145842G>A | CA625315098 | MYO15A | c.6274-30G>A (n.6274-30G>A) c.6214-30G>A (n.6214-30G>A) c.6268-30G>A (n.6268-30G>A) n.6873-30G>A c.6277-30G>A (n.6277-30G>A) c.6213+1250G>A (n.6213+1250G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.18145842G= | CA2250850271 | MYO15A | c.6274-30G= (n.6274-30G=) c.6214-30G= (n.6214-30G=) c.6268-30G= (n.6268-30G=) n.6873-30G= c.6277-30G= (n.6277-30G=) c.6213+1250G= (n.6213+1250G=) | |
17 | g.18145845G>A | CA625315099 | MYO15A | c.6274-27G>A (n.6274-27G>A) c.6214-27G>A (n.6214-27G>A) c.6268-27G>A (n.6268-27G>A) n.6873-27G>A c.6277-27G>A (n.6277-27G>A) c.6213+1253G>A (n.6213+1253G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.18145845G>C | CA2840524792 | MYO15A | c.6274-27G>C (n.6274-27G>C) c.6214-27G>C (n.6214-27G>C) c.6268-27G>C (n.6268-27G>C) n.6873-27G>C c.6277-27G>C (n.6277-27G>C) c.6213+1253G>C (n.6213+1253G>C) | |
17 | g.18145845G= | CA2250850272 | MYO15A | c.6274-27G= (n.6274-27G=) c.6214-27G= (n.6214-27G=) c.6268-27G= (n.6268-27G=) n.6873-27G= c.6277-27G= (n.6277-27G=) c.6213+1253G= (n.6213+1253G=) | |
17 | g.18145845G>T | CA2840524791 | MYO15A | c.6274-27G>T (n.6274-27G>T) c.6214-27G>T (n.6214-27G>T) c.6268-27G>T (n.6268-27G>T) n.6873-27G>T c.6277-27G>T (n.6277-27G>T) c.6213+1253G>T (n.6213+1253G>T) | |
17 | g.18145846C= | CA2250850273 | MYO15A | c.6274-26C= (n.6274-26C=) c.6214-26C= (n.6214-26C=) c.6268-26C= (n.6268-26C=) n.6873-26C= c.6277-26C= (n.6277-26C=) c.6213+1254C= (n.6213+1254C=) | |
17 | g.18145846C>G | CA625315100 | MYO15A | c.6274-26C>G (n.6274-26C>G) c.6214-26C>G (n.6214-26C>G) c.6268-26C>G (n.6268-26C>G) n.6873-26C>G c.6277-26C>G (n.6277-26C>G) c.6213+1254C>G (n.6213+1254C>G) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.18145846C>T | CA2840524793 | MYO15A | c.6274-26C>T (n.6274-26C>T) c.6214-26C>T (n.6214-26C>T) c.6268-26C>T (n.6268-26C>T) n.6873-26C>T c.6277-26C>T (n.6277-26C>T) c.6213+1254C>T (n.6213+1254C>T) | |
17 | g.18145847C>A | CA625315101 | MYO15A | c.6274-25C>A (n.6274-25C>A) c.6214-25C>A (n.6214-25C>A) c.6268-25C>A (n.6268-25C>A) n.6873-25C>A c.6277-25C>A (n.6277-25C>A) c.6213+1255C>A (n.6213+1255C>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.18145847C= | CA2250850274 | MYO15A | c.6274-25C= (n.6274-25C=) c.6214-25C= (n.6214-25C=) c.6268-25C= (n.6268-25C=) n.6873-25C= c.6277-25C= (n.6277-25C=) c.6213+1255C= (n.6213+1255C=) | |
17 | g.18145848C>A | CA2838526698 | MYO15A | c.6274-24C>A (n.6274-24C>A) c.6214-24C>A (n.6214-24C>A) c.6268-24C>A (n.6268-24C>A) n.6873-24C>A c.6277-24C>A (n.6277-24C>A) c.6213+1256C>A (n.6213+1256C>A) | |
17 | g.18145848C= | CA2250850275 | MYO15A | c.6274-24C= (n.6274-24C=) c.6214-24C= (n.6214-24C=) c.6268-24C= (n.6268-24C=) n.6873-24C= c.6277-24C= (n.6277-24C=) c.6213+1256C= (n.6213+1256C=) | |
17 | g.18145848C>T | CA625315102 | MYO15A | c.6274-24C>T (n.6274-24C>T) c.6214-24C>T (n.6214-24C>T) c.6268-24C>T (n.6268-24C>T) n.6873-24C>T c.6277-24C>T (n.6277-24C>T) c.6213+1256C>T (n.6213+1256C>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.18145849A= | CA2250850276 | MYO15A | c.6274-23A= (n.6274-23A=) c.6214-23A= (n.6214-23A=) c.6268-23A= (n.6268-23A=) n.6873-23A= c.6277-23A= (n.6277-23A=) c.6213+1257A= (n.6213+1257A=) | |
17 | g.18145849A>G | CA2250850277 | MYO15A | c.6274-23A>G (n.6274-23A>G) c.6214-23A>G (n.6214-23A>G) c.6268-23A>G (n.6268-23A>G) n.6873-23A>G c.6277-23A>G (n.6277-23A>G) c.6213+1257A>G (n.6213+1257A>G) | dbSNP |
17 | g.18145850G>T | CA2840524794 | MYO15A | c.6274-22G>T (n.6274-22G>T) c.6214-22G>T (n.6214-22G>T) c.6268-22G>T (n.6268-22G>T) n.6873-22G>T c.6277-22G>T (n.6277-22G>T) c.6213+1258G>T (n.6213+1258G>T) | |
17 | g.18145851dup | CA2636447630 | MYO15A | c.6274-21dup (n.6274-21dup) c.6214-21dup (n.6214-21dup) c.6268-21dup (n.6268-21dup) n.6873-21dup c.6277-21dup (n.6277-21dup) c.6213+1259dup (n.6213+1259dup) | gnomAD v4 |
17 | g.18145851G>A | CA8424550 | MYO15A | c.6274-21G>A (n.6274-21G>A) c.6214-21G>A (n.6214-21G>A) c.6268-21G>A (n.6268-21G>A) n.6873-21G>A c.6277-21G>A (n.6277-21G>A) c.6213+1259G>A (n.6213+1259G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.18145851G= | CA2250850278 | MYO15A | c.6274-21G= (n.6274-21G=) c.6214-21G= (n.6214-21G=) c.6268-21G= (n.6268-21G=) n.6873-21G= c.6277-21G= (n.6277-21G=) c.6213+1259G= (n.6213+1259G=) | |
17 | g.18145851G>T | CA2636447635 | MYO15A | c.6274-21G>T (n.6274-21G>T) c.6214-21G>T (n.6214-21G>T) c.6268-21G>T (n.6268-21G>T) n.6873-21G>T c.6277-21G>T (n.6277-21G>T) c.6213+1259G>T (n.6213+1259G>T) | gnomAD v4 |
17 | g.18145854A>C | CA2576190386 | MYO15A | c.6274-18A>C (n.6274-18A>C) c.6214-18A>C (n.6214-18A>C) c.6268-18A>C (n.6268-18A>C) n.6873-18A>C c.6277-18A>C (n.6277-18A>C) c.6213+1262A>C (n.6213+1262A>C) | |
17 | g.18145854_18145856delinsACT | CA2250850279 | MYO15A | c.6274-18_6274-16delinsACT (n.6274-18_6274-16delinsACT) c.6214-18_6214-16delinsACT (n.6214-18_6214-16delinsACT) c.6268-18_6268-16delinsACT (n.6268-18_6268-16delinsACT) n.6873-18_6873-16delinsACT c.6277-18_6277-16delinsACT (n.6277-18_6277-16delinsACT) c.6213+1262_6213+1264delinsACT (n.6213+1262_6213+1264delinsACT) | |
17 | g.18145855C>A | CA8424552 | MYO15A | c.6274-17C>A (n.6274-17C>A) c.6214-17C>A (n.6214-17C>A) c.6268-17C>A (n.6268-17C>A) n.6873-17C>A c.6277-17C>A (n.6277-17C>A) c.6213+1263C>A (n.6213+1263C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.18145855C= | CA2250850280 | MYO15A | c.6274-17C= (n.6274-17C=) c.6214-17C= (n.6214-17C=) c.6268-17C= (n.6268-17C=) n.6873-17C= c.6277-17C= (n.6277-17C=) c.6213+1263C= (n.6213+1263C=) | |
17 | g.18145855C>T | CA8424551 | MYO15A | c.6274-17C>T (n.6274-17C>T) c.6214-17C>T (n.6214-17C>T) c.6268-17C>T (n.6268-17C>T) n.6873-17C>T c.6277-17C>T (n.6277-17C>T) c.6213+1263C>T (n.6213+1263C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.18145857_18145858del | CA625315103 | MYO15A | c.6274-15_6274-14del (n.6274-15_6274-14del) c.6214-15_6214-14del (n.6214-15_6214-14del) c.6268-15_6268-14del (n.6268-15_6268-14del) n.6873-15_6873-14del c.6277-15_6277-14del (n.6277-15_6277-14del) c.6213+1265_6213+1266del (n.6213+1265_6213+1266del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.18145856T>A | CA625315104 | MYO15A | c.6274-16T>A (n.6274-16T>A) c.6214-16T>A (n.6214-16T>A) c.6268-16T>A (n.6268-16T>A) n.6873-16T>A c.6277-16T>A (n.6277-16T>A) c.6213+1264T>A (n.6213+1264T>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.18145856T>C | CA2250850281 | MYO15A | c.6274-16T>C (n.6274-16T>C) c.6214-16T>C (n.6214-16T>C) c.6268-16T>C (n.6268-16T>C) n.6873-16T>C c.6277-16T>C (n.6277-16T>C) c.6213+1264T>C (n.6213+1264T>C) | dbSNP |
17 | g.18145856T= | CA2250850282 | MYO15A | c.6274-16T= (n.6274-16T=) c.6214-16T= (n.6214-16T=) c.6268-16T= (n.6268-16T=) n.6873-16T= c.6277-16T= (n.6277-16T=) c.6213+1264T= (n.6213+1264T=) | |
17 | g.18145857C>A | CA2636447662 | MYO15A | c.6274-15C>A (n.6274-15C>A) c.6214-15C>A (n.6214-15C>A) c.6268-15C>A (n.6268-15C>A) n.6873-15C>A c.6277-15C>A (n.6277-15C>A) c.6213+1265C>A (n.6213+1265C>A) | gnomAD v4 |
17 | g.18145859G>C | CA2250850283 | MYO15A | c.6274-13G>C (n.6274-13G>C) c.6214-13G>C (n.6214-13G>C) c.6268-13G>C (n.6268-13G>C) n.6873-13G>C c.6277-13G>C (n.6277-13G>C) c.6213+1267G>C (n.6213+1267G>C) | dbSNP |
17 | g.18145859G= | CA2250850284 | MYO15A | c.6274-13G= (n.6274-13G=) c.6214-13G= (n.6214-13G=) c.6268-13G= (n.6268-13G=) n.6873-13G= c.6277-13G= (n.6277-13G=) c.6213+1267G= (n.6213+1267G=) | |
17 | g.18145861T>C | CA2636447670 | MYO15A | c.6274-11T>C (n.6274-11T>C) c.6214-11T>C (n.6214-11T>C) c.6268-11T>C (n.6268-11T>C) n.6873-11T>C c.6277-11T>C (n.6277-11T>C) c.6213+1269T>C (n.6213+1269T>C) | gnomAD v4 |
17 | g.18145862C>A | CA2636447682 | MYO15A | c.6274-10C>A (n.6274-10C>A) c.6214-10C>A (n.6214-10C>A) c.6268-10C>A (n.6268-10C>A) n.6873-10C>A c.6277-10C>A (n.6277-10C>A) c.6213+1270C>A (n.6213+1270C>A) | gnomAD v4 |
17 | g.18145862C= | CA2250850285 | MYO15A | c.6274-10C= (n.6274-10C=) c.6214-10C= (n.6214-10C=) c.6268-10C= (n.6268-10C=) n.6873-10C= c.6277-10C= (n.6277-10C=) c.6213+1270C= (n.6213+1270C=) | |
17 | g.18145862C>T | CA8424553 | MYO15A | c.6274-10C>T (n.6274-10C>T) c.6214-10C>T (n.6214-10C>T) c.6268-10C>T (n.6268-10C>T) n.6873-10C>T c.6277-10C>T (n.6277-10C>T) c.6213+1270C>T (n.6213+1270C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.18145863G>A | CA8424554 | MYO15A | c.6274-9G>A (n.6274-9G>A) c.6214-9G>A (n.6214-9G>A) c.6268-9G>A (n.6268-9G>A) n.6873-9G>A c.6277-9G>A (n.6277-9G>A) c.6213+1271G>A (n.6213+1271G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.18145863G= | CA2250850286 | MYO15A | c.6274-9G= (n.6274-9G=) c.6214-9G= (n.6214-9G=) c.6268-9G= (n.6268-9G=) n.6873-9G= c.6277-9G= (n.6277-9G=) c.6213+1271G= (n.6213+1271G=) | |
17 | g.18145863G>T | CA726643888 | MYO15A | c.6274-9G>T (n.6274-9G>T) c.6214-9G>T (n.6214-9G>T) c.6268-9G>T (n.6268-9G>T) n.6873-9G>T c.6277-9G>T (n.6277-9G>T) c.6213+1271G>T (n.6213+1271G>T) | dbSNP |
17 | g.18145866G>A | CA981987774 | MYO15A | c.6274-6G>A (n.6274-6G>A) c.6214-6G>A (n.6214-6G>A) c.6268-6G>A (n.6268-6G>A) n.6873-6G>A c.6277-6G>A (n.6277-6G>A) c.6213+1274G>A (n.6213+1274G>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.18145866G= | CA2250850287 | MYO15A | c.6274-6G= (n.6274-6G=) c.6214-6G= (n.6214-6G=) c.6268-6G= (n.6268-6G=) n.6873-6G= c.6277-6G= (n.6277-6G=) c.6213+1274G= (n.6213+1274G=) | |
17 | g.18145866G>T | CA2636447693 | MYO15A | c.6274-6G>T (n.6274-6G>T) c.6214-6G>T (n.6214-6G>T) c.6268-6G>T (n.6268-6G>T) n.6873-6G>T c.6277-6G>T (n.6277-6G>T) c.6213+1274G>T (n.6213+1274G>T) | gnomAD v4 |
17 | g.18145867C= | CA2250850288 | MYO15A | c.6274-5C= (n.6274-5C=) c.6214-5C= (n.6214-5C=) c.6268-5C= (n.6268-5C=) n.6873-5C= c.6277-5C= (n.6277-5C=) c.6213+1275C= (n.6213+1275C=) | |
17 | g.18145867C>T | CA8424555 | MYO15A | c.6274-5C>T (n.6274-5C>T) c.6214-5C>T (n.6214-5C>T) c.6268-5C>T (n.6268-5C>T) n.6873-5C>T c.6277-5C>T (n.6277-5C>T) c.6213+1275C>T (n.6213+1275C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.18145868C= | CA2250850289 | MYO15A | c.6274-4C= (n.6274-4C=) c.6214-4C= (n.6214-4C=) c.6268-4C= (n.6268-4C=) n.6873-4C= c.6277-4C= (n.6277-4C=) c.6213+1276C= (n.6213+1276C=) | |
17 | g.18145868C>T | CA8424556 | MYO15A | c.6274-4C>T (n.6274-4C>T) c.6214-4C>T (n.6214-4C>T) c.6268-4C>T (n.6268-4C>T) n.6873-4C>T c.6277-4C>T (n.6277-4C>T) c.6213+1276C>T (n.6213+1276C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.18145869C= | CA2250850290 | MYO15A | c.6274-3C= (n.6274-3C=) c.6214-3C= (n.6214-3C=) c.6268-3C= (n.6268-3C=) n.6873-3C= c.6277-3C= (n.6277-3C=) c.6213+1277C= (n.6213+1277C=) | |
17 | g.18145869C>T | CA625315105 | MYO15A | c.6274-3C>T (n.6274-3C>T) c.6214-3C>T (n.6214-3C>T) c.6268-3C>T (n.6268-3C>T) n.6873-3C>T c.6277-3C>T (n.6277-3C>T) c.6213+1277C>T (n.6213+1277C>T) | dbSNP gnomAD v2 |
17 | g.18145870A>C | CA398606299 | MYO15A | c.6274-2A>C (n.6274-2A>C) c.6214-2A>C (n.6214-2A>C) c.6268-2A>C (n.6268-2A>C) n.6873-2A>C c.6277-2A>C (n.6277-2A>C) c.6213+1278A>C (n.6213+1278A>C) | gnomAD v4 |
17 | g.18145870A>G | CA398606297 | MYO15A | c.6274-2A>G (n.6274-2A>G) c.6214-2A>G (n.6214-2A>G) c.6268-2A>G (n.6268-2A>G) n.6873-2A>G c.6277-2A>G (n.6277-2A>G) c.6213+1278A>G (n.6213+1278A>G) | |
17 | g.18145870A>T | CA398606298 | MYO15A | c.6274-2A>T (n.6274-2A>T) c.6214-2A>T (n.6214-2A>T) c.6268-2A>T (n.6268-2A>T) n.6873-2A>T c.6277-2A>T (n.6277-2A>T) c.6213+1278A>T (n.6213+1278A>T) | |
17 | g.18145871G>A | CA398606300 | MYO15A | c.6274-1G>A (n.6274-1G>A) c.6214-1G>A (n.6214-1G>A) c.6268-1G>A (n.6268-1G>A) n.6873-1G>A c.6277-1G>A (n.6277-1G>A) c.6213+1279G>A (n.6213+1279G>A) | |
17 | g.18145871G>C | CA398606301 | MYO15A | c.6274-1G>C (n.6274-1G>C) c.6214-1G>C (n.6214-1G>C) c.6268-1G>C (n.6268-1G>C) n.6873-1G>C c.6277-1G>C (n.6277-1G>C) c.6213+1279G>C (n.6213+1279G>C) | |
17 | g.18145871G>T | CA398606302 | MYO15A | c.6274-1G>T (n.6274-1G>T) c.6214-1G>T (n.6214-1G>T) c.6268-1G>T (n.6268-1G>T) n.6873-1G>T c.6277-1G>T (n.6277-1G>T) c.6213+1279G>T (n.6213+1279G>T) | |
17 | g.18145872A>C | CA398606303 | MYO15A | c.6274A>C (p.Ile2092Leu) c.6214A>C (p.Ile2072Leu) c.6268A>C (p.Ile2090Leu) n.6873A>C c.6277A>C (p.Ile2093Leu) c.6213+1280A>C (n.6213+1280A>C) | |
17 | g.18145872A>G | CA398606304 | MYO15A | c.6274A>G (p.Ile2092Val) c.6214A>G (p.Ile2072Val) c.6268A>G (p.Ile2090Val) n.6873A>G c.6277A>G (p.Ile2093Val) c.6213+1280A>G (n.6213+1280A>G) | |
17 | g.18145872A>T | CA398606305 | MYO15A | c.6274A>T (p.Ile2092Phe) c.6214A>T (p.Ile2072Phe) c.6268A>T (p.Ile2090Phe) n.6873A>T c.6277A>T (p.Ile2093Phe) c.6213+1280A>T (n.6213+1280A>T) | |
17 | g.18145873T>A | CA398606306 | MYO15A | c.6275T>A (p.Ile2092Asn) c.6215T>A (p.Ile2072Asn) c.6269T>A (p.Ile2090Asn) n.6874T>A c.6278T>A (p.Ile2093Asn) c.6213+1281T>A (n.6213+1281T>A) | |
17 | g.18145873T>C | CA398606307 | MYO15A | c.6275T>C (p.Ile2092Thr) c.6215T>C (p.Ile2072Thr) c.6269T>C (p.Ile2090Thr) n.6874T>C c.6278T>C (p.Ile2093Thr) c.6213+1281T>C (n.6213+1281T>C) | |
17 | g.18145873T>G | CA398606309 | MYO15A | c.6275T>G (p.Ile2092Ser) c.6215T>G (p.Ile2072Ser) c.6269T>G (p.Ile2090Ser) n.6874T>G c.6278T>G (p.Ile2093Ser) c.6213+1281T>G (n.6213+1281T>G) | |
17 | g.18145874C>A | CA498430231 | MYO15A | c.6276C>A (p.Ile2092=) c.6216C>A (p.Ile2072=) c.6270C>A (p.Ile2090=) n.6875C>A c.6279C>A (p.Ile2093=) c.6213+1282C>A (n.6213+1282C>A) | |
17 | g.18145874C>G | CA398606311 | MYO15A | c.6276C>G (p.Ile2092Met) c.6216C>G (p.Ile2072Met) c.6270C>G (p.Ile2090Met) n.6875C>G c.6279C>G (p.Ile2093Met) c.6213+1282C>G (n.6213+1282C>G) | |
17 | g.18145874C>T | CA498430232 | MYO15A | c.6276C>T (p.Ile2092=) c.6216C>T (p.Ile2072=) c.6270C>T (p.Ile2090=) n.6875C>T c.6279C>T (p.Ile2093=) c.6213+1282C>T (n.6213+1282C>T) | |
17 | g.18145875C>A | CA398606315 | MYO15A | c.6277C>A (p.Leu2093Met) c.6217C>A (p.Leu2073Met) c.6271C>A (p.Leu2091Met) n.6876C>A c.6280C>A (p.Leu2094Met) c.6213+1283C>A (n.6213+1283C>A) | |
17 | g.18145875C>G | CA398606313 | MYO15A | c.6277C>G (p.Leu2093Val) c.6217C>G (p.Leu2073Val) c.6271C>G (p.Leu2091Val) n.6876C>G c.6280C>G (p.Leu2094Val) c.6213+1283C>G (n.6213+1283C>G) | |
17 | g.18145875C>T | CA498430233 | MYO15A | c.6277C>T (p.Leu2093=) c.6217C>T (p.Leu2073=) c.6271C>T (p.Leu2091=) n.6876C>T c.6280C>T (p.Leu2094=) c.6213+1283C>T (n.6213+1283C>T) | gnomAD v4 |
17 | g.18145876T>A | CA398606317 | MYO15A | c.6278T>A (p.Leu2093Gln) c.6218T>A (p.Leu2073Gln) c.6272T>A (p.Leu2091Gln) n.6877T>A c.6281T>A (p.Leu2094Gln) c.6213+1284T>A (n.6213+1284T>A) | gnomAD v4 |
17 | g.18145876T>C | CA398606319 | MYO15A | c.6278T>C (p.Leu2093Pro) c.6218T>C (p.Leu2073Pro) c.6272T>C (p.Leu2091Pro) n.6877T>C c.6281T>C (p.Leu2094Pro) c.6213+1284T>C (n.6213+1284T>C) | |
17 | g.18145876T>G | CA398606321 | MYO15A | c.6278T>G (p.Leu2093Arg) c.6218T>G (p.Leu2073Arg) c.6272T>G (p.Leu2091Arg) n.6877T>G c.6281T>G (p.Leu2094Arg) c.6213+1284T>G (n.6213+1284T>G) | |
17 | g.18145877G>A | CA498430234 | MYO15A | c.6279G>A (p.Leu2093=) c.6219G>A (p.Leu2073=) c.6273G>A (p.Leu2091=) n.6878G>A c.6282G>A (p.Leu2094=) c.6213+1285G>A (n.6213+1285G>A) | |
17 | g.18145877G>C | CA498430236 | MYO15A | c.6279G>C (p.Leu2093=) c.6219G>C (p.Leu2073=) c.6273G>C (p.Leu2091=) n.6878G>C c.6282G>C (p.Leu2094=) c.6213+1285G>C (n.6213+1285G>C) | |
17 | g.18145877G>T | CA498430235 | MYO15A | c.6279G>T (p.Leu2093=) c.6219G>T (p.Leu2073=) c.6273G>T (p.Leu2091=) n.6878G>T c.6282G>T (p.Leu2094=) c.6213+1285G>T (n.6213+1285G>T) | |
17 | g.18145877dup | CA2840524795 | MYO15A | c.6279dup (p.Arg2094AlafsTer29) c.6219dup (p.Arg2074AlafsTer29) c.6273dup (p.Arg2092AlafsTer29) n.6878dup c.6282dup (p.Arg2095AlafsTer29) c.6213+1285dup (n.6213+1285dup) | |
17 | g.18145878C>A | CA8424557 | MYO15A | c.6280C>A (p.Arg2094Ser) c.6220C>A (p.Arg2074Ser) c.6274C>A (p.Arg2092Ser) n.6879C>A c.6283C>A (p.Arg2095Ser) c.6213+1286C>A (n.6213+1286C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.18145878C= | CA2250850291 | MYO15A | c.6280C= (p.Arg2094=) c.6220C= (p.Arg2074=) c.6274C= (p.Arg2092=) n.6879C= c.6283C= (p.Arg2095=) c.6213+1286C= (n.6213+1286C=) | |
17 | g.18145878C>G | CA398606325 | MYO15A | c.6280C>G (p.Arg2094Gly) c.6220C>G (p.Arg2074Gly) c.6274C>G (p.Arg2092Gly) n.6879C>G c.6283C>G (p.Arg2095Gly) c.6213+1286C>G (n.6213+1286C>G) | |
17 | g.18145878C>T | CA398606326 | MYO15A | c.6280C>T (p.Arg2094Cys) c.6220C>T (p.Arg2074Cys) c.6274C>T (p.Arg2092Cys) n.6879C>T c.6283C>T (p.Arg2095Cys) c.6213+1286C>T (n.6213+1286C>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.18145879G>A | CA8424558 | MYO15A | c.6281G>A (p.Arg2094His) c.6221G>A (p.Arg2074His) c.6275G>A (p.Arg2092His) n.6880G>A c.6284G>A (p.Arg2095His) c.6213+1287G>A (n.6213+1287G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.18145879G>C | CA398606329 | MYO15A | c.6281G>C (p.Arg2094Pro) c.6221G>C (p.Arg2074Pro) c.6275G>C (p.Arg2092Pro) n.6880G>C c.6284G>C (p.Arg2095Pro) c.6213+1287G>C (n.6213+1287G>C) | |
17 | g.18145879G= | CA2250850292 | MYO15A | c.6281G= (p.Arg2094=) c.6221G= (p.Arg2074=) c.6275G= (p.Arg2092=) n.6880G= c.6284G= (p.Arg2095=) c.6213+1287G= (n.6213+1287G=) | |
17 | g.18145879G>T | CA398606331 | MYO15A | c.6281G>T (p.Arg2094Leu) c.6221G>T (p.Arg2074Leu) c.6275G>T (p.Arg2092Leu) n.6880G>T c.6284G>T (p.Arg2095Leu) c.6213+1287G>T (n.6213+1287G>T) | |
17 | g.18145880C>A | CA498430238 | MYO15A | c.6282C>A (p.Arg2094=) c.6222C>A (p.Arg2074=) c.6276C>A (p.Arg2092=) n.6881C>A c.6285C>A (p.Arg2095=) c.6213+1288C>A (n.6213+1288C>A) | |
17 | g.18145880C>G | CA498430239 | MYO15A | c.6282C>G (p.Arg2094=) c.6222C>G (p.Arg2074=) c.6276C>G (p.Arg2092=) n.6881C>G c.6285C>G (p.Arg2095=) c.6213+1288C>G (n.6213+1288C>G) | |
17 | g.18145880C>T | CA498430240 | MYO15A | c.6282C>T (p.Arg2094=) c.6222C>T (p.Arg2074=) c.6276C>T (p.Arg2092=) n.6881C>T c.6285C>T (p.Arg2095=) c.6213+1288C>T (n.6213+1288C>T) | ClinVar gnomAD v4 |
17 | g.18145881T>A | CA398606332 | MYO15A | c.6283T>A (p.Phe2095Ile) c.6223T>A (p.Phe2075Ile) c.6277T>A (p.Phe2093Ile) n.6882T>A c.6286T>A (p.Phe2096Ile) c.6213+1289T>A (n.6213+1289T>A) | |
17 | g.18145881T>C | CA398606334 | MYO15A | c.6283T>C (p.Phe2095Leu) c.6223T>C (p.Phe2075Leu) c.6277T>C (p.Phe2093Leu) n.6882T>C c.6286T>C (p.Phe2096Leu) c.6213+1289T>C (n.6213+1289T>C) | |
17 | g.18145881T>G | CA398606335 | MYO15A | c.6283T>G (p.Phe2095Val) c.6223T>G (p.Phe2075Val) c.6277T>G (p.Phe2093Val) n.6882T>G c.6286T>G (p.Phe2096Val) c.6213+1289T>G (n.6213+1289T>G) | |
17 | g.18145882T>A | CA398606338 | MYO15A | c.6284T>A (p.Phe2095Tyr) c.6224T>A (p.Phe2075Tyr) c.6278T>A (p.Phe2093Tyr) n.6883T>A c.6287T>A (p.Phe2096Tyr) c.6213+1290T>A (n.6213+1290T>A) | |
17 | g.18145882T>C | CA398606340 | MYO15A | c.6284T>C (p.Phe2095Ser) c.6224T>C (p.Phe2075Ser) c.6278T>C (p.Phe2093Ser) n.6883T>C c.6287T>C (p.Phe2096Ser) c.6213+1290T>C (n.6213+1290T>C) | |
17 | g.18145882T>G | CA398606337 | MYO15A | c.6284T>G (p.Phe2095Cys) c.6224T>G (p.Phe2075Cys) c.6278T>G (p.Phe2093Cys) n.6883T>G c.6287T>G (p.Phe2096Cys) c.6213+1290T>G (n.6213+1290T>G) | |
17 | g.18145883C>A | CA398606343 | MYO15A | c.6285C>A (p.Phe2095Leu) c.6225C>A (p.Phe2075Leu) c.6279C>A (p.Phe2093Leu) n.6884C>A c.6288C>A (p.Phe2096Leu) c.6213+1291C>A (n.6213+1291C>A) | |
17 | g.18145883C>G | CA398606344 | MYO15A | c.6285C>G (p.Phe2095Leu) c.6225C>G (p.Phe2075Leu) c.6279C>G (p.Phe2093Leu) n.6884C>G c.6288C>G (p.Phe2096Leu) c.6213+1291C>G (n.6213+1291C>G) | |
17 | g.18145883C>T | CA498430241 | MYO15A | c.6285C>T (p.Phe2095=) c.6225C>T (p.Phe2075=) c.6279C>T (p.Phe2093=) n.6884C>T c.6288C>T (p.Phe2096=) c.6213+1291C>T (n.6213+1291C>T) | |
17 | g.18145884A= | CA2250850293 | MYO15A | c.6286A= (p.Met2096=) c.6226A= (p.Met2076=) c.6280A= (p.Met2094=) n.6885A= c.6289A= (p.Met2097=) c.6213+1292A= (n.6213+1292A=) | |
17 | g.18145884A>C | CA398606346 | MYO15A | c.6286A>C (p.Met2096Leu) c.6226A>C (p.Met2076Leu) c.6280A>C (p.Met2094Leu) n.6885A>C c.6289A>C (p.Met2097Leu) c.6213+1292A>C (n.6213+1292A>C) | gnomAD v4 |
17 | g.18145884A>G | CA398606348 | MYO15A | c.6286A>G (p.Met2096Val) c.6226A>G (p.Met2076Val) c.6280A>G (p.Met2094Val) n.6885A>G c.6289A>G (p.Met2097Val) c.6213+1292A>G (n.6213+1292A>G) | dbSNP gnomAD v4 |
17 | g.18145884A>T | CA398606349 | MYO15A | c.6286A>T (p.Met2096Leu) c.6226A>T (p.Met2076Leu) c.6280A>T (p.Met2094Leu) n.6885A>T c.6289A>T (p.Met2097Leu) c.6213+1292A>T (n.6213+1292A>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.18145885T>A | CA398606355 | MYO15A | c.6287T>A (p.Met2096Lys) c.6227T>A (p.Met2076Lys) c.6281T>A (p.Met2094Lys) n.6886T>A c.6290T>A (p.Met2097Lys) c.6213+1293T>A (n.6213+1293T>A) | |
17 | g.18145885T>C | CA398606354 | MYO15A | c.6287T>C (p.Met2096Thr) c.6227T>C (p.Met2076Thr) c.6281T>C (p.Met2094Thr) n.6886T>C c.6290T>C (p.Met2097Thr) c.6213+1293T>C (n.6213+1293T>C) | |
17 | g.18145885T>G | CA398606353 | MYO15A | c.6287T>G (p.Met2096Arg) c.6227T>G (p.Met2076Arg) c.6281T>G (p.Met2094Arg) n.6886T>G c.6290T>G (p.Met2097Arg) c.6213+1293T>G (n.6213+1293T>G) | |
17 | g.18145886G>A | CA398606358 | MYO15A | c.6288G>A (p.Met2096Ile) c.6228G>A (p.Met2076Ile) c.6282G>A (p.Met2094Ile) n.6887G>A c.6291G>A (p.Met2097Ile) c.6213+1294G>A (n.6213+1294G>A) | |
17 | g.18145886G>C | CA398606360 | MYO15A | c.6288G>C (p.Met2096Ile) c.6228G>C (p.Met2076Ile) c.6282G>C (p.Met2094Ile) n.6887G>C c.6291G>C (p.Met2097Ile) c.6213+1294G>C (n.6213+1294G>C) | |
17 | g.18145886G>T | CA398606361 | MYO15A | c.6288G>T (p.Met2096Ile) c.6228G>T (p.Met2076Ile) c.6282G>T (p.Met2094Ile) n.6887G>T c.6291G>T (p.Met2097Ile) c.6213+1294G>T (n.6213+1294G>T) | |
17 | g.18145888dup | CA2840524796 | MYO15A | c.6290dup (p.Asp2098ArgfsTer25) c.6230dup (p.Asp2078ArgfsTer25) c.6284dup (p.Asp2096ArgfsTer25) n.6889dup c.6293dup (p.Asp2099ArgfsTer25) c.6213+1296dup (n.6213+1296dup) | |
17 | g.18145887G>A | CA398606364 | MYO15A | c.6289G>A (p.Gly2097Ser) c.6229G>A (p.Gly2077Ser) c.6283G>A (p.Gly2095Ser) n.6888G>A c.6292G>A (p.Gly2098Ser) c.6213+1295G>A (n.6213+1295G>A) | |
17 | g.18145887G>C | CA398606366 | MYO15A | c.6289G>C (p.Gly2097Arg) c.6229G>C (p.Gly2077Arg) c.6283G>C (p.Gly2095Arg) n.6888G>C c.6292G>C (p.Gly2098Arg) c.6213+1295G>C (n.6213+1295G>C) | |
17 | g.18145887G>T | CA398606367 | MYO15A | c.6289G>T (p.Gly2097Cys) c.6229G>T (p.Gly2077Cys) c.6283G>T (p.Gly2095Cys) n.6888G>T c.6292G>T (p.Gly2098Cys) c.6213+1295G>T (n.6213+1295G>T) | |
17 | g.18145888G>A | CA8424559 | MYO15A | c.6290G>A (p.Gly2097Asp) c.6230G>A (p.Gly2077Asp) c.6284G>A (p.Gly2095Asp) n.6889G>A c.6293G>A (p.Gly2098Asp) c.6213+1296G>A (n.6213+1296G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.18145888G>C | CA398606371 | MYO15A | c.6290G>C (p.Gly2097Ala) c.6230G>C (p.Gly2077Ala) c.6284G>C (p.Gly2095Ala) n.6889G>C c.6293G>C (p.Gly2098Ala) c.6213+1296G>C (n.6213+1296G>C) | |
17 | g.18145888G= | CA2250850294 | MYO15A | c.6290G= (p.Gly2097=) c.6230G= (p.Gly2077=) c.6284G= (p.Gly2095=) n.6889G= c.6293G= (p.Gly2098=) c.6213+1296G= (n.6213+1296G=) | |
17 | g.18145888G>T | CA398606370 | MYO15A | c.6290G>T (p.Gly2097Val) c.6230G>T (p.Gly2077Val) c.6284G>T (p.Gly2095Val) n.6889G>T c.6293G>T (p.Gly2098Val) c.6213+1296G>T (n.6213+1296G>T) | |
17 | g.18145889C>A | CA498430423 | MYO15A | c.6291C>A (p.Gly2097=) c.6231C>A (p.Gly2077=) c.6285C>A (p.Gly2095=) n.6890C>A c.6294C>A (p.Gly2098=) c.6213+1297C>A (n.6213+1297C>A) | |
17 | g.18145889C= | CA2250850295 | MYO15A | c.6291C= (p.Gly2097=) c.6231C= (p.Gly2077=) c.6285C= (p.Gly2095=) n.6890C= c.6294C= (p.Gly2098=) c.6213+1297C= (n.6213+1297C=) | |
17 | g.18145889C>G | CA498430424 | MYO15A | c.6291C>G (p.Gly2097=) c.6231C>G (p.Gly2077=) c.6285C>G (p.Gly2095=) n.6890C>G c.6294C>G (p.Gly2098=) c.6213+1297C>G (n.6213+1297C>G) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.18145889C>T | CA8424560 | MYO15A | c.6291C>T (p.Gly2097=) c.6231C>T (p.Gly2077=) c.6285C>T (p.Gly2095=) n.6890C>T c.6294C>T (p.Gly2098=) c.6213+1297C>T (n.6213+1297C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.18145890G>A | CA177233 | MYO15A | c.6292G>A (p.Asp2098Asn) c.6232G>A (p.Asp2078Asn) c.6286G>A (p.Asp2096Asn) n.6891G>A c.6295G>A (p.Asp2099Asn) c.6213+1298G>A (n.6213+1298G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.18145890G>C | CA398606374 | MYO15A | c.6292G>C (p.Asp2098His) c.6232G>C (p.Asp2078His) c.6286G>C (p.Asp2096His) n.6891G>C c.6295G>C (p.Asp2099His) c.6213+1298G>C (n.6213+1298G>C) | |
17 | g.18145890G= | CA2250850296 | MYO15A | c.6292G= (p.Asp2098=) c.6232G= (p.Asp2078=) c.6286G= (p.Asp2096=) n.6891G= c.6295G= (p.Asp2099=) c.6213+1298G= (n.6213+1298G=) | |
17 | g.18145890G>T | CA398606377 | MYO15A | c.6292G>T (p.Asp2098Tyr) c.6232G>T (p.Asp2078Tyr) c.6286G>T (p.Asp2096Tyr) n.6891G>T c.6295G>T (p.Asp2099Tyr) c.6213+1298G>T (n.6213+1298G>T) | gnomAD v4 |
17 | g.18145891A= | CA2250850297 | MYO15A | c.6293A= (p.Asp2098=) c.6233A= (p.Asp2078=) c.6287A= (p.Asp2096=) n.6892A= c.6296A= (p.Asp2099=) c.6213+1299A= (n.6213+1299A=) | |
17 | g.18145891A>C | CA398606379 | MYO15A | c.6293A>C (p.Asp2098Ala) c.6233A>C (p.Asp2078Ala) c.6287A>C (p.Asp2096Ala) n.6892A>C c.6296A>C (p.Asp2099Ala) c.6213+1299A>C (n.6213+1299A>C) | |
17 | g.18145891A>G | CA398606380 | MYO15A | c.6293A>G (p.Asp2098Gly) c.6233A>G (p.Asp2078Gly) c.6287A>G (p.Asp2096Gly) n.6892A>G c.6296A>G (p.Asp2099Gly) c.6213+1299A>G (n.6213+1299A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.18145891A>T | CA398606382 | MYO15A | c.6293A>T (p.Asp2098Val) c.6233A>T (p.Asp2078Val) c.6287A>T (p.Asp2096Val) n.6892A>T c.6296A>T (p.Asp2099Val) c.6213+1299A>T (n.6213+1299A>T) | |
17 | g.18145892C>A | CA398606385 | MYO15A | c.6294C>A (p.Asp2098Glu) c.6234C>A (p.Asp2078Glu) c.6288C>A (p.Asp2096Glu) n.6893C>A c.6297C>A (p.Asp2099Glu) c.6213+1300C>A (n.6213+1300C>A) | |
17 | g.18145892C= | CA2250850298 | MYO15A | c.6294C= (p.Asp2098=) c.6234C= (p.Asp2078=) c.6288C= (p.Asp2096=) n.6893C= c.6297C= (p.Asp2099=) c.6213+1300C= (n.6213+1300C=) | |
17 | g.18145892C>G | CA398606386 | MYO15A | c.6294C>G (p.Asp2098Glu) c.6234C>G (p.Asp2078Glu) c.6288C>G (p.Asp2096Glu) n.6893C>G c.6297C>G (p.Asp2099Glu) c.6213+1300C>G (n.6213+1300C>G) | |
17 | g.18145892C>T | CA498430425 | MYO15A | c.6294C>T (p.Asp2098=) c.6234C>T (p.Asp2078=) c.6288C>T (p.Asp2096=) n.6893C>T c.6297C>T (p.Asp2099=) c.6213+1300C>T (n.6213+1300C>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.18145896dup | CA2808664857 | MYO15A | c.6298dup (p.His2100ProfsTer23) c.6238dup (p.His2080ProfsTer23) c.6292dup (p.His2098ProfsTer23) n.6897dup c.6301dup (p.His2101ProfsTer23) c.6213+1304dup (n.6213+1304dup) | |
17 | g.18145893C>A | CA398606390 | MYO15A | c.6295C>A (p.Pro2099Thr) c.6235C>A (p.Pro2079Thr) c.6289C>A (p.Pro2097Thr) n.6894C>A c.6298C>A (p.Pro2100Thr) c.6213+1301C>A (n.6213+1301C>A) | |
17 | g.18145893C>G | CA398606391 | MYO15A | c.6295C>G (p.Pro2099Ala) c.6235C>G (p.Pro2079Ala) c.6289C>G (p.Pro2097Ala) n.6894C>G c.6298C>G (p.Pro2100Ala) c.6213+1301C>G (n.6213+1301C>G) | |
17 | g.18145893C>T | CA398606393 | MYO15A | c.6295C>T (p.Pro2099Ser) c.6235C>T (p.Pro2079Ser) c.6289C>T (p.Pro2097Ser) n.6894C>T c.6298C>T (p.Pro2100Ser) c.6213+1301C>T (n.6213+1301C>T) | gnomAD v4 |
17 | g.18145894C>A | CA398606398 | MYO15A | c.6296C>A (p.Pro2099His) c.6236C>A (p.Pro2079His) c.6290C>A (p.Pro2097His) n.6895C>A c.6299C>A (p.Pro2100His) c.6213+1302C>A (n.6213+1302C>A) | |
17 | g.18145894C= | CA2250850299 | MYO15A | c.6296C= (p.Pro2099=) c.6236C= (p.Pro2079=) c.6290C= (p.Pro2097=) n.6895C= c.6299C= (p.Pro2100=) c.6213+1302C= (n.6213+1302C=) | |
17 | g.18145894C>G | CA398606396 | MYO15A | c.6296C>G (p.Pro2099Arg) c.6236C>G (p.Pro2079Arg) c.6290C>G (p.Pro2097Arg) n.6895C>G c.6299C>G (p.Pro2100Arg) c.6213+1302C>G (n.6213+1302C>G) | dbSNP gnomAD v4 |
17 | g.18145894C>T | CA8424561 | MYO15A | c.6296C>T (p.Pro2099Leu) c.6236C>T (p.Pro2079Leu) c.6290C>T (p.Pro2097Leu) n.6895C>T c.6299C>T (p.Pro2100Leu) c.6213+1302C>T (n.6213+1302C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.18145895C>A | CA498430426 | MYO15A | c.6297C>A (p.Pro2099=) c.6237C>A (p.Pro2079=) c.6291C>A (p.Pro2097=) n.6896C>A c.6300C>A (p.Pro2100=) c.6213+1303C>A (n.6213+1303C>A) | |
17 | g.18145895C>G | CA498430427 | MYO15A | c.6297C>G (p.Pro2099=) c.6237C>G (p.Pro2079=) c.6291C>G (p.Pro2097=) n.6896C>G c.6300C>G (p.Pro2100=) c.6213+1303C>G (n.6213+1303C>G) | |
17 | g.18145895C>T | CA498430428 | MYO15A | c.6297C>T (p.Pro2099=) c.6237C>T (p.Pro2079=) c.6291C>T (p.Pro2097=) n.6896C>T c.6300C>T (p.Pro2100=) c.6213+1303C>T (n.6213+1303C>T) | |
17 | g.18145896C>A | CA398606399 | MYO15A | c.6298C>A (p.His2100Asn) c.6238C>A (p.His2080Asn) c.6292C>A (p.His2098Asn) n.6897C>A c.6301C>A (p.His2101Asn) c.6213+1304C>A (n.6213+1304C>A) | gnomAD v4 |
17 | g.18145896C= | CA2250850300 | MYO15A | c.6298C= (p.His2100=) c.6238C= (p.His2080=) c.6292C= (p.His2098=) n.6897C= c.6301C= (p.His2101=) c.6213+1304C= (n.6213+1304C=) | |
17 | g.18145896C>G | CA398606402 | MYO15A | c.6298C>G (p.His2100Asp) c.6238C>G (p.His2080Asp) c.6292C>G (p.His2098Asp) n.6897C>G c.6301C>G (p.His2101Asp) c.6213+1304C>G (n.6213+1304C>G) | |
17 | g.18145896C>T | CA398606400 | MYO15A | c.6298C>T (p.His2100Tyr) c.6238C>T (p.His2080Tyr) c.6292C>T (p.His2098Tyr) n.6897C>T c.6301C>T (p.His2101Tyr) c.6213+1304C>T (n.6213+1304C>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.18145897A= | CA2250850301 | MYO15A | c.6299A= (p.His2100=) c.6239A= (p.His2080=) c.6293A= (p.His2098=) n.6898A= c.6302A= (p.His2101=) c.6213+1305A= (n.6213+1305A=) | |
17 | g.18145897A>C | CA8424562 | MYO15A | c.6299A>C (p.His2100Pro) c.6239A>C (p.His2080Pro) c.6293A>C (p.His2098Pro) n.6898A>C c.6302A>C (p.His2101Pro) c.6213+1305A>C (n.6213+1305A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.18145897A>G | CA398606406 | MYO15A | c.6299A>G (p.His2100Arg) c.6239A>G (p.His2080Arg) c.6293A>G (p.His2098Arg) n.6898A>G c.6302A>G (p.His2101Arg) c.6213+1305A>G (n.6213+1305A>G) | |
17 | g.18145897A>T | CA8424563 | MYO15A | c.6299A>T (p.His2100Leu) c.6239A>T (p.His2080Leu) c.6293A>T (p.His2098Leu) n.6898A>T c.6302A>T (p.His2101Leu) c.6213+1305A>T (n.6213+1305A>T) | dbSNP ExAC gnomAD v2 |
17 | g.18145898C>A | CA398606408 | MYO15A | c.6300C>A (p.His2100Gln) c.6240C>A (p.His2080Gln) c.6294C>A (p.His2098Gln) n.6899C>A c.6303C>A (p.His2101Gln) c.6213+1306C>A (n.6213+1306C>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.18145898C= | CA2250850302 | MYO15A | c.6300C= (p.His2100=) c.6240C= (p.His2080=) c.6294C= (p.His2098=) n.6899C= c.6303C= (p.His2101=) c.6213+1306C= (n.6213+1306C=) | |
17 | g.18145898C>G | CA398606409 | MYO15A | c.6300C>G (p.His2100Gln) c.6240C>G (p.His2080Gln) c.6294C>G (p.His2098Gln) n.6899C>G c.6303C>G (p.His2101Gln) c.6213+1306C>G (n.6213+1306C>G) | |
17 | g.18145898C>T | CA498430429 | MYO15A | c.6300C>T (p.His2100=) c.6240C>T (p.His2080=) c.6294C>T (p.His2098=) n.6899C>T c.6303C>T (p.His2101=) c.6213+1306C>T (n.6213+1306C>T) | ClinVar |
17 | g.18145899C>A | CA398606412 | MYO15A | c.6301C>A (p.Leu2101Met) c.6241C>A (p.Leu2081Met) c.6295C>A (p.Leu2099Met) n.6900C>A c.6304C>A (p.Leu2102Met) c.6213+1307C>A (n.6213+1307C>A) | |
17 | g.18145899C>G | CA398606413 | MYO15A | c.6301C>G (p.Leu2101Val) c.6241C>G (p.Leu2081Val) c.6295C>G (p.Leu2099Val) n.6900C>G c.6304C>G (p.Leu2102Val) c.6213+1307C>G (n.6213+1307C>G) | |
17 | g.18145899C>T | CA498430430 | MYO15A | c.6301C>T (p.Leu2101=) c.6241C>T (p.Leu2081=) c.6295C>T (p.Leu2099=) n.6900C>T c.6304C>T (p.Leu2102=) c.6213+1307C>T (n.6213+1307C>T) | |
17 | g.18145900T>A | CA288407325 | MYO15A | c.6302T>A (p.Leu2101Gln) c.6242T>A (p.Leu2081Gln) c.6296T>A (p.Leu2099Gln) n.6901T>A c.6305T>A (p.Leu2102Gln) c.6213+1308T>A (n.6213+1308T>A) | dbSNP gnomAD v4 |
17 | g.18145900T>C | CA8424564 | MYO15A | c.6302T>C (p.Leu2101Pro) c.6242T>C (p.Leu2081Pro) c.6296T>C (p.Leu2099Pro) n.6901T>C c.6305T>C (p.Leu2102Pro) c.6213+1308T>C (n.6213+1308T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.18145900T>G | CA398606416 | MYO15A | c.6302T>G (p.Leu2101Arg) c.6242T>G (p.Leu2081Arg) c.6296T>G (p.Leu2099Arg) n.6901T>G c.6305T>G (p.Leu2102Arg) c.6213+1308T>G (n.6213+1308T>G) | |
17 | g.18145900T= | CA2250850303 | MYO15A | c.6302T= (p.Leu2101=) c.6242T= (p.Leu2081=) c.6296T= (p.Leu2099=) n.6901T= c.6305T= (p.Leu2102=) c.6213+1308T= (n.6213+1308T=) | |
17 | g.18145901G>A | CA498430433 | MYO15A | c.6303G>A (p.Leu2101=) c.6243G>A (p.Leu2081=) c.6297G>A (p.Leu2099=) n.6902G>A c.6306G>A (p.Leu2102=) c.6213+1309G>A (n.6213+1309G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.18145901G>C | CA498430432 | MYO15A | c.6303G>C (p.Leu2101=) c.6243G>C (p.Leu2081=) c.6297G>C (p.Leu2099=) n.6902G>C c.6306G>C (p.Leu2102=) c.6213+1309G>C (n.6213+1309G>C) | dbSNP gnomAD v4 |
17 | g.18145901G= | CA2250850304 | MYO15A | c.6303G= (p.Leu2101=) c.6243G= (p.Leu2081=) c.6297G= (p.Leu2099=) n.6902G= c.6306G= (p.Leu2102=) c.6213+1309G= (n.6213+1309G=) | |
17 | g.18145901G>T | CA498430431 | MYO15A | c.6303G>T (p.Leu2101=) c.6243G>T (p.Leu2081=) c.6297G>T (p.Leu2099=) n.6902G>T c.6306G>T (p.Leu2102=) c.6213+1309G>T (n.6213+1309G>T) | |
17 | g.18145902C>A | CA398606419 | MYO15A | c.6304C>A (p.His2102Asn) c.6244C>A (p.His2082Asn) c.6298C>A (p.His2100Asn) n.6903C>A c.6307C>A (p.His2103Asn) c.6213+1310C>A (n.6213+1310C>A) | |
17 | g.18145902C>G | CA398606421 | MYO15A | c.6304C>G (p.His2102Asp) c.6244C>G (p.His2082Asp) c.6298C>G (p.His2100Asp) n.6903C>G c.6307C>G (p.His2103Asp) c.6213+1310C>G (n.6213+1310C>G) | |
17 | g.18145902C>T | CA398606423 | MYO15A | c.6304C>T (p.His2102Tyr) c.6244C>T (p.His2082Tyr) c.6298C>T (p.His2100Tyr) n.6903C>T c.6307C>T (p.His2103Tyr) c.6213+1310C>T (n.6213+1310C>T) | |
17 | g.18145903A>C | CA398606426 | MYO15A | c.6305A>C (p.His2102Pro) c.6245A>C (p.His2082Pro) c.6299A>C (p.His2100Pro) n.6904A>C c.6308A>C (p.His2103Pro) c.6213+1311A>C (n.6213+1311A>C) | gnomAD v4 |
17 | g.18145903A>G | CA398606427 | MYO15A | c.6305A>G (p.His2102Arg) c.6245A>G (p.His2082Arg) c.6299A>G (p.His2100Arg) n.6904A>G c.6308A>G (p.His2103Arg) c.6213+1311A>G (n.6213+1311A>G) | |
17 | g.18145903A>T | CA398606429 | MYO15A | c.6305A>T (p.His2102Leu) c.6245A>T (p.His2082Leu) c.6299A>T (p.His2100Leu) n.6904A>T c.6308A>T (p.His2103Leu) c.6213+1311A>T (n.6213+1311A>T) | |
17 | g.18145904T>A | CA398606435 | MYO15A | c.6306T>A (p.His2102Gln) c.6246T>A (p.His2082Gln) c.6300T>A (p.His2100Gln) n.6905T>A c.6309T>A (p.His2103Gln) c.6213+1312T>A (n.6213+1312T>A) | |
17 | g.18145904T>C | CA8424565 | MYO15A | c.6306T>C (p.His2102=) c.6246T>C (p.His2082=) c.6300T>C (p.His2100=) n.6905T>C c.6309T>C (p.His2103=) c.6213+1312T>C (n.6213+1312T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.18145904T>G | CA398606432 | MYO15A | c.6306T>G (p.His2102Gln) c.6246T>G (p.His2082Gln) c.6300T>G (p.His2100Gln) n.6905T>G c.6309T>G (p.His2103Gln) c.6213+1312T>G (n.6213+1312T>G) | |
17 | g.18145904T= | CA2250850305 | MYO15A | c.6306T= (p.His2102=) c.6246T= (p.His2082=) c.6300T= (p.His2100=) n.6905T= c.6309T= (p.His2103=) c.6213+1312T= (n.6213+1312T=) | |
17 | g.18145905G>A | CA398606436 | MYO15A | c.6307G>A (p.Gly2103Ser) c.6247G>A (p.Gly2083Ser) c.6301G>A (p.Gly2101Ser) n.6906G>A c.6310G>A (p.Gly2104Ser) c.6213+1313G>A (n.6213+1313G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.18145905G>C | CA398606439 | MYO15A | c.6307G>C (p.Gly2103Arg) c.6247G>C (p.Gly2083Arg) c.6301G>C (p.Gly2101Arg) n.6906G>C c.6310G>C (p.Gly2104Arg) c.6213+1313G>C (n.6213+1313G>C) | |
17 | g.18145905G= | CA2250850306 | MYO15A | c.6307G= (p.Gly2103=) c.6247G= (p.Gly2083=) c.6301G= (p.Gly2101=) n.6906G= c.6310G= (p.Gly2104=) c.6213+1313G= (n.6213+1313G=) | |
17 | g.18145905G>T | CA398606441 | MYO15A | c.6307G>T (p.Gly2103Cys) c.6247G>T (p.Gly2083Cys) c.6301G>T (p.Gly2101Cys) n.6906G>T c.6310G>T (p.Gly2104Cys) c.6213+1313G>T (n.6213+1313G>T) | |
17 | g.18145906dup | CA2695224488 | MYO15A | c.6308dup (p.Ala2104CysfsTer19) c.6248dup (p.Ala2084CysfsTer19) c.6302dup (p.Ala2102CysfsTer19) n.6907dup c.6311dup (p.Ala2105CysfsTer19) c.6213+1314dup (n.6213+1314dup) | |
17 | g.18145906G>A | CA8424566 | MYO15A | c.6308G>A (p.Gly2103Asp) c.6248G>A (p.Gly2083Asp) c.6302G>A (p.Gly2101Asp) n.6907G>A c.6311G>A (p.Gly2104Asp) c.6213+1314G>A (n.6213+1314G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.18145906G>C | CA398606444 | MYO15A | c.6308G>C (p.Gly2103Ala) c.6248G>C (p.Gly2083Ala) c.6302G>C (p.Gly2101Ala) n.6907G>C c.6311G>C (p.Gly2104Ala) c.6213+1314G>C (n.6213+1314G>C) | |
17 | g.18145906G= | CA2250850307 | MYO15A | c.6308G= (p.Gly2103=) c.6248G= (p.Gly2083=) c.6302G= (p.Gly2101=) n.6907G= c.6311G= (p.Gly2104=) c.6213+1314G= (n.6213+1314G=) | |
17 | g.18145906G>T | CA398606446 | MYO15A | c.6308G>T (p.Gly2103Val) c.6248G>T (p.Gly2083Val) c.6302G>T (p.Gly2101Val) n.6907G>T c.6311G>T (p.Gly2104Val) c.6213+1314G>T (n.6213+1314G>T) | |
17 | g.18145907T>A | CA498430434 | MYO15A | c.6309T>A (p.Gly2103=) c.6249T>A (p.Gly2083=) c.6303T>A (p.Gly2101=) n.6908T>A c.6312T>A (p.Gly2104=) c.6213+1315T>A (n.6213+1315T>A) | |
17 | g.18145907T>C | CA8424567 | MYO15A | c.6309T>C (p.Gly2103=) c.6249T>C (p.Gly2083=) c.6303T>C (p.Gly2101=) n.6908T>C c.6312T>C (p.Gly2104=) c.6213+1315T>C (n.6213+1315T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.18145907T>G | CA498430435 | MYO15A | c.6309T>G (p.Gly2103=) c.6249T>G (p.Gly2083=) c.6303T>G (p.Gly2101=) n.6908T>G c.6312T>G (p.Gly2104=) c.6213+1315T>G (n.6213+1315T>G) | |
17 | g.18145907T= | CA2250850308 | MYO15A | c.6309T= (p.Gly2103=) c.6249T= (p.Gly2083=) c.6303T= (p.Gly2101=) n.6908T= c.6312T= (p.Gly2104=) c.6213+1315T= (n.6213+1315T=) | |
17 | g.18145908G>A | CA398606450 | MYO15A | c.6310G>A (p.Ala2104Thr) c.6250G>A (p.Ala2084Thr) c.6304G>A (p.Ala2102Thr) n.6909G>A c.6313G>A (p.Ala2105Thr) c.6213+1316G>A (n.6213+1316G>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.18145908G>C | CA398606452 | MYO15A | c.6310G>C (p.Ala2104Pro) c.6250G>C (p.Ala2084Pro) c.6304G>C (p.Ala2102Pro) n.6909G>C c.6313G>C (p.Ala2105Pro) c.6213+1316G>C (n.6213+1316G>C) | |
17 | g.18145908G= | CA2250850309 | MYO15A | c.6310G= (p.Ala2104=) c.6250G= (p.Ala2084=) c.6304G= (p.Ala2102=) n.6909G= c.6313G= (p.Ala2105=) c.6213+1316G= (n.6213+1316G=) | |
17 | g.18145908G>T | CA398606454 | MYO15A | c.6310G>T (p.Ala2104Ser) c.6250G>T (p.Ala2084Ser) c.6304G>T (p.Ala2102Ser) n.6909G>T c.6313G>T (p.Ala2105Ser) c.6213+1316G>T (n.6213+1316G>T) | |
17 | g.18145909C>A | CA398606456 | MYO15A | c.6311C>A (p.Ala2104Asp) c.6251C>A (p.Ala2084Asp) c.6305C>A (p.Ala2102Asp) n.6910C>A c.6314C>A (p.Ala2105Asp) c.6213+1317C>A (n.6213+1317C>A) | |
17 | g.18145909C>G | CA398606458 | MYO15A | c.6311C>G (p.Ala2104Gly) c.6251C>G (p.Ala2084Gly) c.6305C>G (p.Ala2102Gly) n.6910C>G c.6314C>G (p.Ala2105Gly) c.6213+1317C>G (n.6213+1317C>G) | |
17 | g.18145909C>T | CA398606455 | MYO15A | c.6311C>T (p.Ala2104Val) c.6251C>T (p.Ala2084Val) c.6305C>T (p.Ala2102Val) n.6910C>T c.6314C>T (p.Ala2105Val) c.6213+1317C>T (n.6213+1317C>T) | gnomAD v4 |
17 | g.18145910C>A | CA498430436 | MYO15A | c.6312C>A (p.Ala2104=) c.6252C>A (p.Ala2084=) c.6306C>A (p.Ala2102=) n.6911C>A c.6315C>A (p.Ala2105=) c.6213+1318C>A (n.6213+1318C>A) | |
17 | g.18145910C>G | CA498430437 | MYO15A | c.6312C>G (p.Ala2104=) c.6252C>G (p.Ala2084=) c.6306C>G (p.Ala2102=) n.6911C>G c.6315C>G (p.Ala2105=) c.6213+1318C>G (n.6213+1318C>G) | |
17 | g.18145910C>T | CA498430438 | MYO15A | c.6312C>T (p.Ala2104=) c.6252C>T (p.Ala2084=) c.6306C>T (p.Ala2102=) n.6911C>T c.6315C>T (p.Ala2105=) c.6213+1318C>T (n.6213+1318C>T) | |
17 | g.18145911C>A | CA498430439 | MYO15A | c.6313C>A (p.Arg2105=) c.6253C>A (p.Arg2085=) c.6307C>A (p.Arg2103=) n.6912C>A c.6316C>A (p.Arg2106=) c.6213+1319C>A (n.6213+1319C>A) | |
17 | g.18145911C= | CA2250850310 | MYO15A | c.6313C= (p.Arg2105=) c.6253C= (p.Arg2085=) c.6307C= (p.Arg2103=) n.6912C= c.6316C= (p.Arg2106=) c.6213+1319C= (n.6213+1319C=) | |
17 | g.18145911C>G | CA8424569 | MYO15A | c.6313C>G (p.Arg2105Gly) c.6253C>G (p.Arg2085Gly) c.6307C>G (p.Arg2103Gly) n.6912C>G c.6316C>G (p.Arg2106Gly) c.6213+1319C>G (n.6213+1319C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.18145911C>T | CA8424568 | MYO15A | c.6313C>T (p.Arg2105Trp) c.6253C>T (p.Arg2085Trp) c.6307C>T (p.Arg2103Trp) n.6912C>T c.6316C>T (p.Arg2106Trp) c.6213+1319C>T (n.6213+1319C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.18145912G>A | CA8424570 | MYO15A | c.6314G>A (p.Arg2105Gln) c.6254G>A (p.Arg2085Gln) c.6308G>A (p.Arg2103Gln) n.6913G>A c.6317G>A (p.Arg2106Gln) c.6213+1320G>A (n.6213+1320G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.18145912G>C | CA398606463 | MYO15A | c.6314G>C (p.Arg2105Pro) c.6254G>C (p.Arg2085Pro) c.6308G>C (p.Arg2103Pro) n.6913G>C c.6317G>C (p.Arg2106Pro) c.6213+1320G>C (n.6213+1320G>C) | |
17 | g.18145912G= | CA2250850311 | MYO15A | c.6314G= (p.Arg2105=) c.6254G= (p.Arg2085=) c.6308G= (p.Arg2103=) n.6913G= c.6317G= (p.Arg2106=) c.6213+1320G= (n.6213+1320G=) | |
17 | g.18145912G>T | CA288407347 | MYO15A | c.6314G>T (p.Arg2105Leu) c.6254G>T (p.Arg2085Leu) c.6308G>T (p.Arg2103Leu) n.6913G>T c.6317G>T (p.Arg2106Leu) c.6213+1320G>T (n.6213+1320G>T) | dbSNP |
17 | g.18145913G>A | CA498430440 | MYO15A | c.6315G>A (p.Arg2105=) c.6255G>A (p.Arg2085=) c.6309G>A (p.Arg2103=) n.6914G>A c.6318G>A (p.Arg2106=) c.6213+1321G>A (n.6213+1321G>A) | |
17 | g.18145913G>C | CA498430441 | MYO15A | c.6315G>C (p.Arg2105=) c.6255G>C (p.Arg2085=) c.6309G>C (p.Arg2103=) n.6914G>C c.6318G>C (p.Arg2106=) c.6213+1321G>C (n.6213+1321G>C) | |
17 | g.18145913G>T | CA498430442 | MYO15A | c.6315G>T (p.Arg2105=) c.6255G>T (p.Arg2085=) c.6309G>T (p.Arg2103=) n.6914G>T c.6318G>T (p.Arg2106=) c.6213+1321G>T (n.6213+1321G>T) | |
17 | g.18145914G>A | CA8424571 | MYO15A | c.6316G>A (p.Glu2106Lys) c.6256G>A (p.Glu2086Lys) c.6310G>A (p.Glu2104Lys) n.6915G>A c.6319G>A (p.Glu2107Lys) c.6213+1322G>A (n.6213+1322G>A) | dbSNP ExAC gnomAD v2 |
17 | g.18145914G>C | CA398606467 | MYO15A | c.6316G>C (p.Glu2106Gln) c.6256G>C (p.Glu2086Gln) c.6310G>C (p.Glu2104Gln) n.6915G>C c.6319G>C (p.Glu2107Gln) c.6213+1322G>C (n.6213+1322G>C) | |
17 | g.18145914G= | CA2250850312 | MYO15A | c.6316G= (p.Glu2106=) c.6256G= (p.Glu2086=) c.6310G= (p.Glu2104=) n.6915G= c.6319G= (p.Glu2107=) c.6213+1322G= (n.6213+1322G=) | |
17 | g.18145914G>T | CA398606468 | MYO15A | c.6316G>T (p.Glu2106Ter) c.6256G>T (p.Glu2086Ter) c.6310G>T (p.Glu2104Ter) n.6915G>T c.6319G>T (p.Glu2107Ter) c.6213+1322G>T (n.6213+1322G>T) | gnomAD v4 COSMIC |
17 | g.18145915A>C | CA398606472 | MYO15A | c.6317A>C (p.Glu2106Ala) c.6257A>C (p.Glu2086Ala) c.6311A>C (p.Glu2104Ala) n.6916A>C c.6320A>C (p.Glu2107Ala) c.6213+1323A>C (n.6213+1323A>C) | |
17 | g.18145915A>G | CA398606473 | MYO15A | c.6317A>G (p.Glu2106Gly) c.6257A>G (p.Glu2086Gly) c.6311A>G (p.Glu2104Gly) n.6916A>G c.6320A>G (p.Glu2107Gly) c.6213+1323A>G (n.6213+1323A>G) | |
17 | g.18145915A>T | CA398606475 | MYO15A | c.6317A>T (p.Glu2106Val) c.6257A>T (p.Glu2086Val) c.6311A>T (p.Glu2104Val) n.6916A>T c.6320A>T (p.Glu2107Val) c.6213+1323A>T (n.6213+1323A>T) | gnomAD v4 |
17 | g.18145916G>A | CA498430443 | MYO15A | c.6318G>A (p.Glu2106=) c.6258G>A (p.Glu2086=) c.6312G>A (p.Glu2104=) n.6917G>A c.6321G>A (p.Glu2107=) c.6213+1324G>A (n.6213+1324G>A) | gnomAD v4 |
17 | g.18145916G>C | CA398606477 | MYO15A | c.6318G>C (p.Glu2106Asp) c.6258G>C (p.Glu2086Asp) c.6312G>C (p.Glu2104Asp) n.6917G>C c.6321G>C (p.Glu2107Asp) c.6213+1324G>C (n.6213+1324G>C) | |
17 | g.18145916G>T | CA398606478 | MYO15A | c.6318G>T (p.Glu2106Asp) c.6258G>T (p.Glu2086Asp) c.6312G>T (p.Glu2104Asp) n.6917G>T c.6321G>T (p.Glu2107Asp) c.6213+1324G>T (n.6213+1324G>T) | |
17 | g.18145917A>C | CA398606481 | MYO15A | c.6319A>C (p.Asn2107His) c.6259A>C (p.Asn2087His) c.6313A>C (p.Asn2105His) n.6918A>C c.6322A>C (p.Asn2108His) c.6213+1325A>C (n.6213+1325A>C) | |
17 | g.18145917A>G | CA398606484 | MYO15A | c.6319A>G (p.Asn2107Asp) c.6259A>G (p.Asn2087Asp) c.6313A>G (p.Asn2105Asp) n.6918A>G c.6322A>G (p.Asn2108Asp) c.6213+1325A>G (n.6213+1325A>G) | |
17 | g.18145917A>T | CA398606482 | MYO15A | c.6319A>T (p.Asn2107Tyr) c.6259A>T (p.Asn2087Tyr) c.6313A>T (p.Asn2105Tyr) n.6918A>T c.6322A>T (p.Asn2108Tyr) c.6213+1325A>T (n.6213+1325A>T) | |
17 | g.18145918A>C | CA398606486 | MYO15A | c.6320A>C (p.Asn2107Thr) c.6260A>C (p.Asn2087Thr) c.6314A>C (p.Asn2105Thr) n.6919A>C c.6323A>C (p.Asn2108Thr) c.6213+1326A>C (n.6213+1326A>C) | |
17 | g.18145918A>G | CA398606488 | MYO15A | c.6320A>G (p.Asn2107Ser) c.6260A>G (p.Asn2087Ser) c.6314A>G (p.Asn2105Ser) n.6919A>G c.6323A>G (p.Asn2108Ser) c.6213+1326A>G (n.6213+1326A>G) | |
17 | g.18145918A>T | CA398606490 | MYO15A | c.6320A>T (p.Asn2107Ile) c.6260A>T (p.Asn2087Ile) c.6314A>T (p.Asn2105Ile) n.6919A>T c.6323A>T (p.Asn2108Ile) c.6213+1326A>T (n.6213+1326A>T) | |
17 | g.18145923_18145937del | CA2636447850 | MYO15A | c.6325_6339del (p.Phe2109_Ile2113del) c.6265_6279del (p.Phe2089_Ile2093del) c.6319_6333del (p.Phe2107_Ile2111del) n.6924_6938del c.6328_6342del (p.Phe2110_Ile2114del) c.6213+1331_6213+1345del (n.6213+1331_6213+1345del) | gnomAD v4 |
17 | g.18145919C>A | CA398606492 | MYO15A | c.6321C>A (p.Asn2107Lys) c.6261C>A (p.Asn2087Lys) c.6315C>A (p.Asn2105Lys) n.6920C>A c.6324C>A (p.Asn2108Lys) c.6213+1327C>A (n.6213+1327C>A) | |
17 | g.18145919C>G | CA398606494 | MYO15A | c.6321C>G (p.Asn2107Lys) c.6261C>G (p.Asn2087Lys) c.6315C>G (p.Asn2105Lys) n.6920C>G c.6324C>G (p.Asn2108Lys) c.6213+1327C>G (n.6213+1327C>G) | |
17 | g.18145919C>T | CA498430444 | MYO15A | c.6321C>T (p.Asn2107=) c.6261C>T (p.Asn2087=) c.6315C>T (p.Asn2105=) n.6920C>T c.6324C>T (p.Asn2108=) c.6213+1327C>T (n.6213+1327C>T) | gnomAD v4 |
17 | g.18145920A>C | CA398606497 | MYO15A | c.6322A>C (p.Ile2108Leu) c.6262A>C (p.Ile2088Leu) c.6316A>C (p.Ile2106Leu) n.6921A>C c.6325A>C (p.Ile2109Leu) c.6213+1328A>C (n.6213+1328A>C) | |
17 | g.18145920A>G | CA398606498 | MYO15A | c.6322A>G (p.Ile2108Val) c.6262A>G (p.Ile2088Val) c.6316A>G (p.Ile2106Val) n.6921A>G c.6325A>G (p.Ile2109Val) c.6213+1328A>G (n.6213+1328A>G) | |
17 | g.18145920A>T | CA398606501 | MYO15A | c.6322A>T (p.Ile2108Phe) c.6262A>T (p.Ile2088Phe) c.6316A>T (p.Ile2106Phe) n.6921A>T c.6325A>T (p.Ile2109Phe) c.6213+1328A>T (n.6213+1328A>T) | |
17 | g.18145921T>A | CA398606503 | MYO15A | c.6323T>A (p.Ile2108Asn) c.6263T>A (p.Ile2088Asn) c.6317T>A (p.Ile2106Asn) n.6922T>A c.6326T>A (p.Ile2109Asn) c.6213+1329T>A (n.6213+1329T>A) | |
17 | g.18145921T>C | CA398606505 | MYO15A | c.6323T>C (p.Ile2108Thr) c.6263T>C (p.Ile2088Thr) c.6317T>C (p.Ile2106Thr) n.6922T>C c.6326T>C (p.Ile2109Thr) c.6213+1329T>C (n.6213+1329T>C) | |
17 | g.18145921T>G | CA398606506 | MYO15A | c.6323T>G (p.Ile2108Ser) c.6263T>G (p.Ile2088Ser) c.6317T>G (p.Ile2106Ser) n.6922T>G c.6326T>G (p.Ile2109Ser) c.6213+1329T>G (n.6213+1329T>G) | |
17 | g.18145922C>A | CA498430445 | MYO15A | c.6324C>A (p.Ile2108=) c.6264C>A (p.Ile2088=) c.6318C>A (p.Ile2106=) n.6923C>A c.6327C>A (p.Ile2109=) c.6213+1330C>A (n.6213+1330C>A) | |
17 | g.18145922C= | CA2250850313 | MYO15A | c.6324C= (p.Ile2108=) c.6264C= (p.Ile2088=) c.6318C= (p.Ile2106=) n.6923C= c.6327C= (p.Ile2109=) c.6213+1330C= (n.6213+1330C=) | |
17 | g.18145922C>G | CA398606509 | MYO15A | c.6324C>G (p.Ile2108Met) c.6264C>G (p.Ile2088Met) c.6318C>G (p.Ile2106Met) n.6923C>G c.6327C>G (p.Ile2109Met) c.6213+1330C>G (n.6213+1330C>G) | |
17 | g.18145922C>T | CA498430446 | MYO15A | c.6324C>T (p.Ile2108=) c.6264C>T (p.Ile2088=) c.6318C>T (p.Ile2106=) n.6923C>T c.6327C>T (p.Ile2109=) c.6213+1330C>T (n.6213+1330C>T) | dbSNP |
17 | g.18145923T>A | CA398606514 | MYO15A | c.6325T>A (p.Phe2109Ile) c.6265T>A (p.Phe2089Ile) c.6319T>A (p.Phe2107Ile) n.6924T>A c.6328T>A (p.Phe2110Ile) c.6213+1331T>A (n.6213+1331T>A) | |
17 | g.18145923T>C | CA398606512 | MYO15A | c.6325T>C (p.Phe2109Leu) c.6265T>C (p.Phe2089Leu) c.6319T>C (p.Phe2107Leu) n.6924T>C c.6328T>C (p.Phe2110Leu) c.6213+1331T>C (n.6213+1331T>C) | ClinVar |
17 | g.18145923T>G | CA398606511 | MYO15A | c.6325T>G (p.Phe2109Val) c.6265T>G (p.Phe2089Val) c.6319T>G (p.Phe2107Val) n.6924T>G c.6328T>G (p.Phe2110Val) c.6213+1331T>G (n.6213+1331T>G) | |
17 | g.18145924T>A | CA398606520 | MYO15A | c.6326T>A (p.Phe2109Tyr) c.6266T>A (p.Phe2089Tyr) c.6320T>A (p.Phe2107Tyr) n.6925T>A c.6329T>A (p.Phe2110Tyr) c.6213+1332T>A (n.6213+1332T>A) | |
17 | g.18145924T>C | CA398606516 | MYO15A | c.6326T>C (p.Phe2109Ser) c.6266T>C (p.Phe2089Ser) c.6320T>C (p.Phe2107Ser) n.6925T>C c.6329T>C (p.Phe2110Ser) c.6213+1332T>C (n.6213+1332T>C) | |
17 | g.18145924T>G | CA398606518 | MYO15A | c.6326T>G (p.Phe2109Cys) c.6266T>G (p.Phe2089Cys) c.6320T>G (p.Phe2107Cys) n.6925T>G c.6329T>G (p.Phe2110Cys) c.6213+1332T>G (n.6213+1332T>G) | |
17 | g.18145925C>A | CA398606522 | MYO15A | c.6327C>A (p.Phe2109Leu) c.6267C>A (p.Phe2089Leu) c.6321C>A (p.Phe2107Leu) n.6926C>A c.6330C>A (p.Phe2110Leu) c.6213+1333C>A (n.6213+1333C>A) | |
17 | g.18145925C= | CA2250850314 | MYO15A | c.6327C= (p.Phe2109=) c.6267C= (p.Phe2089=) c.6321C= (p.Phe2107=) n.6926C= c.6330C= (p.Phe2110=) c.6213+1333C= (n.6213+1333C=) | |
17 | g.18145925C>G | CA398606524 | MYO15A | c.6327C>G (p.Phe2109Leu) c.6267C>G (p.Phe2089Leu) c.6321C>G (p.Phe2107Leu) n.6926C>G c.6330C>G (p.Phe2110Leu) c.6213+1333C>G (n.6213+1333C>G) | |
17 | g.18145925C>T | CA498430447 | MYO15A | c.6327C>T (p.Phe2109=) c.6267C>T (p.Phe2089=) c.6321C>T (p.Phe2107=) n.6926C>T c.6330C>T (p.Phe2110=) c.6213+1333C>T (n.6213+1333C>T) | ClinVar dbSNP gnomAD v4 |
17 | g.18145926G>A | CA8424573 | MYO15A | c.6328G>A (p.Gly2110Arg) c.6268G>A (p.Gly2090Arg) c.6322G>A (p.Gly2108Arg) n.6927G>A c.6331G>A (p.Gly2111Arg) c.6213+1334G>A (n.6213+1334G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.18145926G>C | CA398606527 | MYO15A | c.6328G>C (p.Gly2110Arg) c.6268G>C (p.Gly2090Arg) c.6322G>C (p.Gly2108Arg) n.6927G>C c.6331G>C (p.Gly2111Arg) c.6213+1334G>C (n.6213+1334G>C) | |
17 | g.18145926G= | CA2250850315 | MYO15A | c.6328G= (p.Gly2110=) c.6268G= (p.Gly2090=) c.6322G= (p.Gly2108=) n.6927G= c.6331G= (p.Gly2111=) c.6213+1334G= (n.6213+1334G=) | |
17 | g.18145926G>T | CA8424572 | MYO15A | c.6328G>T (p.Gly2110Trp) c.6268G>T (p.Gly2090Trp) c.6322G>T (p.Gly2108Trp) n.6927G>T c.6331G>T (p.Gly2111Trp) c.6213+1334G>T (n.6213+1334G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.18145927G>A | CA398606531 | MYO15A | c.6329G>A (p.Gly2110Glu) c.6269G>A (p.Gly2090Glu) c.6323G>A (p.Gly2108Glu) n.6928G>A c.6332G>A (p.Gly2111Glu) c.6213+1335G>A (n.6213+1335G>A) | |
17 | g.18145927G>C | CA398606532 | MYO15A | c.6329G>C (p.Gly2110Ala) c.6269G>C (p.Gly2090Ala) c.6323G>C (p.Gly2108Ala) n.6928G>C c.6332G>C (p.Gly2111Ala) c.6213+1335G>C (n.6213+1335G>C) | |
17 | g.18145927G>T | CA398606533 | MYO15A | c.6329G>T (p.Gly2110Val) c.6269G>T (p.Gly2090Val) c.6323G>T (p.Gly2108Val) n.6928G>T c.6332G>T (p.Gly2111Val) c.6213+1335G>T (n.6213+1335G>T) | |
17 | g.18145928G>A | CA498430448 | MYO15A | c.6330G>A (p.Gly2110=) c.6270G>A (p.Gly2090=) c.6324G>A (p.Gly2108=) n.6929G>A c.6333G>A (p.Gly2111=) c.6213+1336G>A (n.6213+1336G>A) | |
17 | g.18145928G>C | CA498430449 | MYO15A | c.6330G>C (p.Gly2110=) c.6270G>C (p.Gly2090=) c.6324G>C (p.Gly2108=) n.6929G>C c.6333G>C (p.Gly2111=) c.6213+1336G>C (n.6213+1336G>C) | |
17 | g.18145928G>T | CA498430450 | MYO15A | c.6330G>T (p.Gly2110=) c.6270G>T (p.Gly2090=) c.6324G>T (p.Gly2108=) n.6929G>T c.6333G>T (p.Gly2111=) c.6213+1336G>T (n.6213+1336G>T) | |
17 | g.18145929A= | CA2250850316 | MYO15A | c.6331A= (p.Asn2111=) c.6271A= (p.Asn2091=) c.6325A= (p.Asn2109=) n.6930A= c.6334A= (p.Asn2112=) c.6213+1337A= (n.6213+1337A=) | |
17 | g.18145929A>C | CA398606536 | MYO15A | c.6331A>C (p.Asn2111His) c.6271A>C (p.Asn2091His) c.6325A>C (p.Asn2109His) n.6930A>C c.6334A>C (p.Asn2112His) c.6213+1337A>C (n.6213+1337A>C) | |
17 | g.18145929A>G | CA398606538 | MYO15A | c.6331A>G (p.Asn2111Asp) c.6271A>G (p.Asn2091Asp) c.6325A>G (p.Asn2109Asp) n.6930A>G c.6334A>G (p.Asn2112Asp) c.6213+1337A>G (n.6213+1337A>G) | |
17 | g.18145929A>T | CA254014 | MYO15A | c.6331A>T (p.Asn2111Tyr) c.6271A>T (p.Asn2091Tyr) c.6325A>T (p.Asn2109Tyr) n.6930A>T c.6334A>T (p.Asn2112Tyr) c.6213+1337A>T (n.6213+1337A>T) | ClinVar dbSNP |
17 | g.18145930del | CA2808664860 | MYO15A | c.6332del (p.Asn2111ThrfsTer?) c.6272del (p.Asn2091ThrfsTer?) c.6326del (p.Asn2109ThrfsTer?) n.6931del c.6335del (p.Asn2112ThrfsTer?) c.6213+1338del (n.6213+1338del) | |
17 | g.18145930A>C | CA398606545 | MYO15A | c.6332A>C (p.Asn2111Thr) c.6272A>C (p.Asn2091Thr) c.6326A>C (p.Asn2109Thr) n.6931A>C c.6335A>C (p.Asn2112Thr) c.6213+1338A>C (n.6213+1338A>C) | |
17 | g.18145930A>G | CA398606543 | MYO15A | c.6332A>G (p.Asn2111Ser) c.6272A>G (p.Asn2091Ser) c.6326A>G (p.Asn2109Ser) n.6931A>G c.6335A>G (p.Asn2112Ser) c.6213+1338A>G (n.6213+1338A>G) | |
17 | g.18145930A>T | CA398606541 | MYO15A | c.6332A>T (p.Asn2111Ile) c.6272A>T (p.Asn2091Ile) c.6326A>T (p.Asn2109Ile) n.6931A>T c.6335A>T (p.Asn2112Ile) c.6213+1338A>T (n.6213+1338A>T) | |
17 | g.18145931C>A | CA398606547 | MYO15A | c.6333C>A (p.Asn2111Lys) c.6273C>A (p.Asn2091Lys) c.6327C>A (p.Asn2109Lys) n.6932C>A c.6336C>A (p.Asn2112Lys) c.6213+1339C>A (n.6213+1339C>A) | |
17 | g.18145931C= | CA2250850317 | MYO15A | c.6333C= (p.Asn2111=) c.6273C= (p.Asn2091=) c.6327C= (p.Asn2109=) n.6932C= c.6336C= (p.Asn2112=) c.6213+1339C= (n.6213+1339C=) | |
17 | g.18145931C>G | CA398606549 | MYO15A | c.6333C>G (p.Asn2111Lys) c.6273C>G (p.Asn2091Lys) c.6327C>G (p.Asn2109Lys) n.6932C>G c.6336C>G (p.Asn2112Lys) c.6213+1339C>G (n.6213+1339C>G) | |
17 | g.18145931C>T | CA498430451 | MYO15A | c.6333C>T (p.Asn2111=) c.6273C>T (p.Asn2091=) c.6327C>T (p.Asn2109=) n.6932C>T c.6336C>T (p.Asn2112=) c.6213+1339C>T (n.6213+1339C>T) | dbSNP gnomAD v4 |
17 | g.18145932T>A | CA398606551 | MYO15A | c.6334T>A (p.Tyr2112Asn) c.6274T>A (p.Tyr2092Asn) c.6328T>A (p.Tyr2110Asn) n.6933T>A c.6337T>A (p.Tyr2113Asn) c.6213+1340T>A (n.6213+1340T>A) | |
17 | g.18145932T>C | CA398606553 | MYO15A | c.6334T>C (p.Tyr2112His) c.6274T>C (p.Tyr2092His) c.6328T>C (p.Tyr2110His) n.6933T>C c.6337T>C (p.Tyr2113His) c.6213+1340T>C (n.6213+1340T>C) | |
17 | g.18145932T>G | CA398606554 | MYO15A | c.6334T>G (p.Tyr2112Asp) c.6274T>G (p.Tyr2092Asp) c.6328T>G (p.Tyr2110Asp) n.6933T>G c.6337T>G (p.Tyr2113Asp) c.6213+1340T>G (n.6213+1340T>G) | |
17 | g.18145933A>C | CA398606555 | MYO15A | c.6335A>C (p.Tyr2112Ser) c.6275A>C (p.Tyr2092Ser) c.6329A>C (p.Tyr2110Ser) n.6934A>C c.6338A>C (p.Tyr2113Ser) c.6213+1341A>C (n.6213+1341A>C) | |
17 | g.18145933A>G | CA398606557 | MYO15A | c.6335A>G (p.Tyr2112Cys) c.6275A>G (p.Tyr2092Cys) c.6329A>G (p.Tyr2110Cys) n.6934A>G c.6338A>G (p.Tyr2113Cys) c.6213+1341A>G (n.6213+1341A>G) | gnomAD v4 |
17 | g.18145933A>T | CA398606559 | MYO15A | c.6335A>T (p.Tyr2112Phe) c.6275A>T (p.Tyr2092Phe) c.6329A>T (p.Tyr2110Phe) n.6934A>T c.6338A>T (p.Tyr2113Phe) c.6213+1341A>T (n.6213+1341A>T) | |
17 | g.18145934C>A | CA398606561 | MYO15A | c.6336C>A (p.Tyr2112Ter) c.6276C>A (p.Tyr2092Ter) c.6330C>A (p.Tyr2110Ter) n.6935C>A c.6339C>A (p.Tyr2113Ter) c.6213+1342C>A (n.6213+1342C>A) | |
17 | g.18145934C= | CA2250850318 | MYO15A | c.6336C= (p.Tyr2112=) c.6276C= (p.Tyr2092=) c.6330C= (p.Tyr2110=) n.6935C= c.6339C= (p.Tyr2113=) c.6213+1342C= (n.6213+1342C=) | |
17 | g.18145934C>G | CA398606563 | MYO15A | c.6336C>G (p.Tyr2112Ter) c.6276C>G (p.Tyr2092Ter) c.6330C>G (p.Tyr2110Ter) n.6935C>G c.6339C>G (p.Tyr2113Ter) c.6213+1342C>G (n.6213+1342C>G) | gnomAD v4 |
17 | g.18145934C>T | CA182352 | MYO15A | c.6336C>T (p.Tyr2112=) c.6276C>T (p.Tyr2092=) c.6330C>T (p.Tyr2110=) n.6935C>T c.6339C>T (p.Tyr2113=) c.6213+1342C>T (n.6213+1342C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.18145935A= | CA2250850319 | MYO15A | c.6337A= (p.Ile2113=) c.6277A= (p.Ile2093=) c.6331A= (p.Ile2111=) n.6936A= c.6340A= (p.Ile2114=) c.6213+1343A= (n.6213+1343A=) | |
17 | g.18145935A>C | CA398606567 | MYO15A | c.6337A>C (p.Ile2113Leu) c.6277A>C (p.Ile2093Leu) c.6331A>C (p.Ile2111Leu) n.6936A>C c.6340A>C (p.Ile2114Leu) c.6213+1343A>C (n.6213+1343A>C) | |
17 | g.18145935A>G | CA398606569 | MYO15A | c.6337A>G (p.Ile2113Val) c.6277A>G (p.Ile2093Val) c.6331A>G (p.Ile2111Val) n.6936A>G c.6340A>G (p.Ile2114Val) c.6213+1343A>G (n.6213+1343A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.18145935A>T | CA254013 | MYO15A | c.6337A>T (p.Ile2113Phe) c.6277A>T (p.Ile2093Phe) c.6331A>T (p.Ile2111Phe) n.6936A>T c.6340A>T (p.Ile2114Phe) c.6213+1343A>T (n.6213+1343A>T) | ClinVar dbSNP |
17 | g.18145936T>A | CA398606573 | MYO15A | c.6338T>A (p.Ile2113Asn) c.6278T>A (p.Ile2093Asn) c.6332T>A (p.Ile2111Asn) n.6937T>A c.6341T>A (p.Ile2114Asn) c.6213+1344T>A (n.6213+1344T>A) | ClinVar dbSNP |
17 | g.18145936T>C | CA398606575 | MYO15A | c.6338T>C (p.Ile2113Thr) c.6278T>C (p.Ile2093Thr) c.6332T>C (p.Ile2111Thr) n.6937T>C c.6341T>C (p.Ile2114Thr) c.6213+1344T>C (n.6213+1344T>C) | dbSNP gnomAD v4 |
17 | g.18145936T>G | CA398606571 | MYO15A | c.6338T>G (p.Ile2113Ser) c.6278T>G (p.Ile2093Ser) c.6332T>G (p.Ile2111Ser) n.6937T>G c.6341T>G (p.Ile2114Ser) c.6213+1344T>G (n.6213+1344T>G) | |
17 | g.18145936T= | CA2250850320 | MYO15A | c.6338T= (p.Ile2113=) c.6278T= (p.Ile2093=) c.6332T= (p.Ile2111=) n.6937T= c.6341T= (p.Ile2114=) c.6213+1344T= (n.6213+1344T=) | |
17 | g.18145937C>A | CA498430452 | MYO15A | c.6339C>A (p.Ile2113=) c.6279C>A (p.Ile2093=) c.6333C>A (p.Ile2111=) n.6938C>A c.6342C>A (p.Ile2114=) c.6213+1345C>A (n.6213+1345C>A) | gnomAD v4 |
17 | g.18145937C= | CA2250850321 | MYO15A | c.6339C= (p.Ile2113=) c.6279C= (p.Ile2093=) c.6333C= (p.Ile2111=) n.6938C= c.6342C= (p.Ile2114=) c.6213+1345C= (n.6213+1345C=) | |
17 | g.18145937C>G | CA288407369 | MYO15A | c.6339C>G (p.Ile2113Met) c.6279C>G (p.Ile2093Met) c.6333C>G (p.Ile2111Met) n.6938C>G c.6342C>G (p.Ile2114Met) c.6213+1345C>G (n.6213+1345C>G) | dbSNP gnomAD v4 |
17 | g.18145937C>T | CA8424574 | MYO15A | c.6339C>T (p.Ile2113=) c.6279C>T (p.Ile2093=) c.6333C>T (p.Ile2111=) n.6938C>T c.6342C>T (p.Ile2114=) c.6213+1345C>T (n.6213+1345C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.18145938G>A | CA8424575 | MYO15A | c.6340G>A (p.Val2114Met) c.6280G>A (p.Val2094Met) c.6334G>A (p.Val2112Met) n.6939G>A c.6343G>A (p.Val2115Met) c.6213+1346G>A (n.6213+1346G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.18145938G>C | CA398606580 | MYO15A | c.6340G>C (p.Val2114Leu) c.6280G>C (p.Val2094Leu) c.6334G>C (p.Val2112Leu) n.6939G>C c.6343G>C (p.Val2115Leu) c.6213+1346G>C (n.6213+1346G>C) | |
17 | g.18145938G= | CA2250850322 | MYO15A | c.6340G= (p.Val2114=) c.6280G= (p.Val2094=) c.6334G= (p.Val2112=) n.6939G= c.6343G= (p.Val2115=) c.6213+1346G= (n.6213+1346G=) | |
17 | g.18145938G>T | CA398606582 | MYO15A | c.6340G>T (p.Val2114Leu) c.6280G>T (p.Val2094Leu) c.6334G>T (p.Val2112Leu) n.6939G>T c.6343G>T (p.Val2115Leu) c.6213+1346G>T (n.6213+1346G>T) | COSMIC |
17 | g.18145939T>A | CA398606584 | MYO15A | c.6341T>A (p.Val2114Glu) c.6281T>A (p.Val2094Glu) c.6335T>A (p.Val2112Glu) n.6940T>A c.6344T>A (p.Val2115Glu) c.6213+1347T>A (n.6213+1347T>A) | |
17 | g.18145939T>C | CA398606586 | MYO15A | c.6341T>C (p.Val2114Ala) c.6281T>C (p.Val2094Ala) c.6335T>C (p.Val2112Ala) n.6940T>C c.6344T>C (p.Val2115Ala) c.6213+1347T>C (n.6213+1347T>C) | |
17 | g.18145939T>G | CA398606588 | MYO15A | c.6341T>G (p.Val2114Gly) c.6281T>G (p.Val2094Gly) c.6335T>G (p.Val2112Gly) n.6940T>G c.6344T>G (p.Val2115Gly) c.6213+1347T>G (n.6213+1347T>G) | |
17 | g.18145940G>A | CA498430454 | MYO15A | c.6342G>A (p.Val2114=) c.6282G>A (p.Val2094=) c.6336G>A (p.Val2112=) n.6941G>A c.6345G>A (p.Val2115=) c.6213+1348G>A (n.6213+1348G>A) | |
17 | g.18145940G>C | CA498430455 | MYO15A | c.6342G>C (p.Val2114=) c.6282G>C (p.Val2094=) c.6336G>C (p.Val2112=) n.6941G>C c.6345G>C (p.Val2115=) c.6213+1348G>C (n.6213+1348G>C) | |
17 | g.18145940G>T | CA498430453 | MYO15A | c.6342G>T (p.Val2114=) c.6282G>T (p.Val2094=) c.6336G>T (p.Val2112=) n.6941G>T c.6345G>T (p.Val2115=) c.6213+1348G>T (n.6213+1348G>T) | |
17 | g.18145941C>A | CA398606590 | MYO15A | c.6343C>A (p.Gln2115Lys) c.6283C>A (p.Gln2095Lys) c.6337C>A (p.Gln2113Lys) n.6942C>A c.6346C>A (p.Gln2116Lys) c.6213+1349C>A (n.6213+1349C>A) | |
17 | g.18145941C>G | CA398606591 | MYO15A | c.6343C>G (p.Gln2115Glu) c.6283C>G (p.Gln2095Glu) c.6337C>G (p.Gln2113Glu) n.6942C>G c.6346C>G (p.Gln2116Glu) c.6213+1349C>G (n.6213+1349C>G) | |
17 | g.18145941C>T | CA398606593 | MYO15A | c.6343C>T (p.Gln2115Ter) c.6283C>T (p.Gln2095Ter) c.6337C>T (p.Gln2113Ter) n.6942C>T c.6346C>T (p.Gln2116Ter) c.6213+1349C>T (n.6213+1349C>T) |