| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 17 | g.18145942A= | CA2250850323 | MYO15A | c.6344A= (p.Gln2115=) c.6284A= (p.Gln2095=) c.6338A= (p.Gln2113=) n.6943A= c.6347A= (p.Gln2116=) c.6213+1350A= (n.6213+1350A=) | |
| 17 | g.18145942A>C | CA398606599 | MYO15A | c.6344A>C (p.Gln2115Pro) c.6284A>C (p.Gln2095Pro) c.6338A>C (p.Gln2113Pro) n.6943A>C c.6347A>C (p.Gln2116Pro) c.6213+1350A>C (n.6213+1350A>C) | |
| 17 | g.18145942A>G | CA398606597 | MYO15A | c.6344A>G (p.Gln2115Arg) c.6284A>G (p.Gln2095Arg) c.6338A>G (p.Gln2113Arg) n.6943A>G c.6347A>G (p.Gln2116Arg) c.6213+1350A>G (n.6213+1350A>G) | dbSNP |
| 17 | g.18145942A>T | CA398606595 | MYO15A | c.6344A>T (p.Gln2115Leu) c.6284A>T (p.Gln2095Leu) c.6338A>T (p.Gln2113Leu) n.6943A>T c.6347A>T (p.Gln2116Leu) c.6213+1350A>T (n.6213+1350A>T) | |
| 17 | g.18145943G>A | CA498430456 | MYO15A | c.6345G>A (p.Gln2115=) c.6285G>A (p.Gln2095=) c.6339G>A (p.Gln2113=) n.6944G>A c.6348G>A (p.Gln2116=) c.6213+1351G>A (n.6213+1351G>A) | gnomAD v4 |
| 17 | g.18145943G>C | CA398606601 | MYO15A | c.6345G>C (p.Gln2115His) c.6285G>C (p.Gln2095His) c.6339G>C (p.Gln2113His) n.6944G>C c.6348G>C (p.Gln2116His) c.6213+1351G>C (n.6213+1351G>C) | |
| 17 | g.18145943G>T | CA398606603 | MYO15A | c.6345G>T (p.Gln2115His) c.6285G>T (p.Gln2095His) c.6339G>T (p.Gln2113His) n.6944G>T c.6348G>T (p.Gln2116His) c.6213+1351G>T (n.6213+1351G>T) | |
| 17 | g.18145944A>C | CA398606605 | MYO15A | c.6346A>C (p.Lys2116Gln) c.6286A>C (p.Lys2096Gln) c.6340A>C (p.Lys2114Gln) n.6945A>C c.6349A>C (p.Lys2117Gln) c.6213+1352A>C (n.6213+1352A>C) | |
| 17 | g.18145944A>G | CA398606606 | MYO15A | c.6346A>G (p.Lys2116Glu) c.6286A>G (p.Lys2096Glu) c.6340A>G (p.Lys2114Glu) n.6945A>G c.6349A>G (p.Lys2117Glu) c.6213+1352A>G (n.6213+1352A>G) | |
| 17 | g.18145944A>T | CA398606608 | MYO15A | c.6346A>T (p.Lys2116Ter) c.6286A>T (p.Lys2096Ter) c.6340A>T (p.Lys2114Ter) n.6945A>T c.6349A>T (p.Lys2117Ter) c.6213+1352A>T (n.6213+1352A>T) | |
| 17 | g.18145945dup | CA2808664864 | MYO15A | c.6347dup (p.Leu2118AlafsTer5) c.6287dup (p.Leu2098AlafsTer5) c.6341dup (p.Leu2116AlafsTer5) n.6946dup c.6350dup (p.Leu2119AlafsTer5) c.6213+1353dup (n.6213+1353dup) | |
| 17 | g.18145945del | CA2695224489 | MYO15A | c.6347del (p.Lys2116ArgfsTer?) c.6287del (p.Lys2096ArgfsTer?) c.6341del (p.Lys2114ArgfsTer?) n.6946del c.6350del (p.Lys2117ArgfsTer?) c.6213+1353del (n.6213+1353del) | |
| 17 | g.18145945A>C | CA398606611 | MYO15A | c.6347A>C (p.Lys2116Thr) c.6287A>C (p.Lys2096Thr) c.6341A>C (p.Lys2114Thr) n.6946A>C c.6350A>C (p.Lys2117Thr) c.6213+1353A>C (n.6213+1353A>C) | gnomAD v4 |
| 17 | g.18145945A>G | CA398606612 | MYO15A | c.6347A>G (p.Lys2116Arg) c.6287A>G (p.Lys2096Arg) c.6341A>G (p.Lys2114Arg) n.6946A>G c.6350A>G (p.Lys2117Arg) c.6213+1353A>G (n.6213+1353A>G) | |
| 17 | g.18145945A>T | CA398606614 | MYO15A | c.6347A>T (p.Lys2116Met) c.6287A>T (p.Lys2096Met) c.6341A>T (p.Lys2114Met) n.6946A>T c.6350A>T (p.Lys2117Met) c.6213+1353A>T (n.6213+1353A>T) | |
| 17 | g.18145946G>A | CA498430457 | MYO15A | c.6348G>A (p.Lys2116=) c.6288G>A (p.Lys2096=) c.6342G>A (p.Lys2114=) n.6947G>A c.6351G>A (p.Lys2117=) c.6213+1354G>A (n.6213+1354G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.18145946G>C | CA398606616 | MYO15A | c.6348G>C (p.Lys2116Asn) c.6288G>C (p.Lys2096Asn) c.6342G>C (p.Lys2114Asn) n.6947G>C c.6351G>C (p.Lys2117Asn) c.6213+1354G>C (n.6213+1354G>C) | |
| 17 | g.18145946G= | CA2250850324 | MYO15A | c.6348G= (p.Lys2116=) c.6288G= (p.Lys2096=) c.6342G= (p.Lys2114=) n.6947G= c.6351G= (p.Lys2117=) c.6213+1354G= (n.6213+1354G=) | |
| 17 | g.18145946G>T | CA398606617 | MYO15A | c.6348G>T (p.Lys2116Asn) c.6288G>T (p.Lys2096Asn) c.6342G>T (p.Lys2114Asn) n.6947G>T c.6351G>T (p.Lys2117Asn) c.6213+1354G>T (n.6213+1354G>T) | |
| 17 | g.18145949dup | CA2636447988 | MYO15A | c.6351dup (p.Leu2118AlafsTer5) c.6291dup (p.Leu2098AlafsTer5) c.6345dup (p.Leu2116AlafsTer5) n.6950dup c.6354dup (p.Leu2119AlafsTer5) c.6213+1357dup (n.6213+1357dup) | gnomAD v4 |
| 17 | g.18145949del | CA2808664867 | MYO15A | c.6351del (p.Leu2118TrpfsTer?) c.6291del (p.Leu2098TrpfsTer?) c.6345del (p.Leu2116TrpfsTer?) n.6950del c.6354del (p.Leu2119TrpfsTer?) c.6213+1357del (n.6213+1357del) | |
| 17 | g.18145947G>A | CA398606620 | MYO15A | c.6349G>A (p.Gly2117Arg) c.6289G>A (p.Gly2097Arg) c.6343G>A (p.Gly2115Arg) n.6948G>A c.6352G>A (p.Gly2118Arg) c.6213+1355G>A (n.6213+1355G>A) | |
| 17 | g.18145947G>C | CA398606622 | MYO15A | c.6349G>C (p.Gly2117Arg) c.6289G>C (p.Gly2097Arg) c.6343G>C (p.Gly2115Arg) n.6948G>C c.6352G>C (p.Gly2118Arg) c.6213+1355G>C (n.6213+1355G>C) | |
| 17 | g.18145947G>T | CA398606623 | MYO15A | c.6349G>T (p.Gly2117Trp) c.6289G>T (p.Gly2097Trp) c.6343G>T (p.Gly2115Trp) n.6948G>T c.6352G>T (p.Gly2118Trp) c.6213+1355G>T (n.6213+1355G>T) | gnomAD v4 |
| 17 | g.18145948G>A | CA398606627 | MYO15A | c.6350G>A (p.Gly2117Glu) c.6290G>A (p.Gly2097Glu) c.6344G>A (p.Gly2115Glu) n.6949G>A c.6353G>A (p.Gly2118Glu) c.6213+1356G>A (n.6213+1356G>A) | COSMIC |
| 17 | g.18145948G>C | CA398606628 | MYO15A | c.6350G>C (p.Gly2117Ala) c.6290G>C (p.Gly2097Ala) c.6344G>C (p.Gly2115Ala) n.6949G>C c.6353G>C (p.Gly2118Ala) c.6213+1356G>C (n.6213+1356G>C) | |
| 17 | g.18145948G>T | CA398606625 | MYO15A | c.6350G>T (p.Gly2117Val) c.6290G>T (p.Gly2097Val) c.6344G>T (p.Gly2115Val) n.6949G>T c.6353G>T (p.Gly2118Val) c.6213+1356G>T (n.6213+1356G>T) | |
| 17 | g.18145949G>A | CA498430458 | MYO15A | c.6351G>A (p.Gly2117=) c.6291G>A (p.Gly2097=) c.6345G>A (p.Gly2115=) n.6950G>A c.6354G>A (p.Gly2118=) c.6213+1357G>A (n.6213+1357G>A) | |
| 17 | g.18145949G>C | CA498430459 | MYO15A | c.6351G>C (p.Gly2117=) c.6291G>C (p.Gly2097=) c.6345G>C (p.Gly2115=) n.6950G>C c.6354G>C (p.Gly2118=) c.6213+1357G>C (n.6213+1357G>C) | |
| 17 | g.18145949G>T | CA498430460 | MYO15A | c.6351G>T (p.Gly2117=) c.6291G>T (p.Gly2097=) c.6345G>T (p.Gly2115=) n.6950G>T c.6354G>T (p.Gly2118=) c.6213+1357G>T (n.6213+1357G>T) | |
| 17 | g.18145950C>A | CA398606630 | MYO15A | c.6352C>A (p.Leu2118Met) c.6292C>A (p.Leu2098Met) c.6346C>A (p.Leu2116Met) n.6951C>A c.6355C>A (p.Leu2119Met) c.6213+1358C>A (n.6213+1358C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.18145950C= | CA2250850325 | MYO15A | c.6352C= (p.Leu2118=) c.6292C= (p.Leu2098=) c.6346C= (p.Leu2116=) n.6951C= c.6355C= (p.Leu2119=) c.6213+1358C= (n.6213+1358C=) | |
| 17 | g.18145950C>G | CA398606632 | MYO15A | c.6352C>G (p.Leu2118Val) c.6292C>G (p.Leu2098Val) c.6346C>G (p.Leu2116Val) n.6951C>G c.6355C>G (p.Leu2119Val) c.6213+1358C>G (n.6213+1358C>G) | |
| 17 | g.18145950C>T | CA498430461 | MYO15A | c.6352C>T (p.Leu2118=) c.6292C>T (p.Leu2098=) c.6346C>T (p.Leu2116=) n.6951C>T c.6355C>T (p.Leu2119=) c.6213+1358C>T (n.6213+1358C>T) | ClinVar |
| 17 | g.18145951T>A | CA288407382 | MYO15A | c.6353T>A (p.Leu2118Gln) c.6293T>A (p.Leu2098Gln) c.6347T>A (p.Leu2116Gln) n.6952T>A c.6356T>A (p.Leu2119Gln) c.6213+1359T>A (n.6213+1359T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.18145951T>C | CA398606637 | MYO15A | c.6353T>C (p.Leu2118Pro) c.6293T>C (p.Leu2098Pro) c.6347T>C (p.Leu2116Pro) n.6952T>C c.6356T>C (p.Leu2119Pro) c.6213+1359T>C (n.6213+1359T>C) | |
| 17 | g.18145951T>G | CA398606635 | MYO15A | c.6353T>G (p.Leu2118Arg) c.6293T>G (p.Leu2098Arg) c.6347T>G (p.Leu2116Arg) n.6952T>G c.6356T>G (p.Leu2119Arg) c.6213+1359T>G (n.6213+1359T>G) | |
| 17 | g.18145951T= | CA2250850326 | MYO15A | c.6353T= (p.Leu2118=) c.6293T= (p.Leu2098=) c.6347T= (p.Leu2116=) n.6952T= c.6356T= (p.Leu2119=) c.6213+1359T= (n.6213+1359T=) | |
| 17 | g.18145951dup | CA2580092659 | MYO15A | c.6353dup (p.Ala2119GlyfsTer4) c.6293dup (p.Ala2099GlyfsTer4) c.6347dup (p.Ala2117GlyfsTer4) n.6952dup c.6356dup (p.Ala2120GlyfsTer4) c.6213+1359dup (n.6213+1359dup) | ClinVar |
| 17 | g.18145952G>A | CA498430462 | MYO15A | c.6354G>A (p.Leu2118=) c.6294G>A (p.Leu2098=) c.6348G>A (p.Leu2116=) n.6953G>A c.6357G>A (p.Leu2119=) c.6213+1360G>A (n.6213+1360G>A) | dbSNP gnomAD v4 |
| 17 | g.18145952G>C | CA498430463 | MYO15A | c.6354G>C (p.Leu2118=) c.6294G>C (p.Leu2098=) c.6348G>C (p.Leu2116=) n.6953G>C c.6357G>C (p.Leu2119=) c.6213+1360G>C (n.6213+1360G>C) | |
| 17 | g.18145952G= | CA2250850327 | MYO15A | c.6354G= (p.Leu2118=) c.6294G= (p.Leu2098=) c.6348G= (p.Leu2116=) n.6953G= c.6357G= (p.Leu2119=) c.6213+1360G= (n.6213+1360G=) | |
| 17 | g.18145952G>T | CA498430464 | MYO15A | c.6354G>T (p.Leu2118=) c.6294G>T (p.Leu2098=) c.6348G>T (p.Leu2116=) n.6953G>T c.6357G>T (p.Leu2119=) c.6213+1360G>T (n.6213+1360G>T) | |
| 17 | g.18145953G>A | CA398606640 | MYO15A | c.6355G>A (p.Ala2119Thr) c.6295G>A (p.Ala2099Thr) c.6349G>A (p.Ala2117Thr) n.6954G>A c.6358G>A (p.Ala2120Thr) c.6213+1361G>A (n.6213+1361G>A) | gnomAD v4 |
| 17 | g.18145953G>C | CA398606641 | MYO15A | c.6355G>C (p.Ala2119Pro) c.6295G>C (p.Ala2099Pro) c.6349G>C (p.Ala2117Pro) n.6954G>C c.6358G>C (p.Ala2120Pro) c.6213+1361G>C (n.6213+1361G>C) | |
| 17 | g.18145953G>T | CA398606644 | MYO15A | c.6355G>T (p.Ala2119Ser) c.6295G>T (p.Ala2099Ser) c.6349G>T (p.Ala2117Ser) n.6954G>T c.6358G>T (p.Ala2120Ser) c.6213+1361G>T (n.6213+1361G>T) | |
| 17 | g.18145954C>A | CA398606646 | MYO15A | c.6356C>A (p.Ala2119Glu) c.6296C>A (p.Ala2099Glu) c.6350C>A (p.Ala2117Glu) n.6955C>A c.6359C>A (p.Ala2120Glu) c.6213+1362C>A (n.6213+1362C>A) | gnomAD v4 |
| 17 | g.18145954C= | CA2250850328 | MYO15A | c.6356C= (p.Ala2119=) c.6296C= (p.Ala2099=) c.6350C= (p.Ala2117=) n.6955C= c.6359C= (p.Ala2120=) c.6213+1362C= (n.6213+1362C=) | |
| 17 | g.18145954C>G | CA398606648 | MYO15A | c.6356C>G (p.Ala2119Gly) c.6296C>G (p.Ala2099Gly) c.6350C>G (p.Ala2117Gly) n.6955C>G c.6359C>G (p.Ala2120Gly) c.6213+1362C>G (n.6213+1362C>G) | |
| 17 | g.18145954C>T | CA8424576 | MYO15A | c.6356C>T (p.Ala2119Val) c.6296C>T (p.Ala2099Val) c.6350C>T (p.Ala2117Val) n.6955C>T c.6359C>T (p.Ala2120Val) c.6213+1362C>T (n.6213+1362C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.18145955G>A | CA8424577 | MYO15A | c.6357G>A (p.Ala2119=) c.6297G>A (p.Ala2099=) c.6351G>A (p.Ala2117=) n.6956G>A c.6360G>A (p.Ala2120=) c.6213+1363G>A (n.6213+1363G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.18145955G>C | CA498430465 | MYO15A | c.6357G>C (p.Ala2119=) c.6297G>C (p.Ala2099=) c.6351G>C (p.Ala2117=) n.6956G>C c.6360G>C (p.Ala2120=) c.6213+1363G>C (n.6213+1363G>C) | |
| 17 | g.18145955G= | CA2250850329 | MYO15A | c.6357G= (p.Ala2119=) c.6297G= (p.Ala2099=) c.6351G= (p.Ala2117=) n.6956G= c.6360G= (p.Ala2120=) c.6213+1363G= (n.6213+1363G=) | |
| 17 | g.18145955G>T | CA498430466 | MYO15A | c.6357G>T (p.Ala2119=) c.6297G>T (p.Ala2099=) c.6351G>T (p.Ala2117=) n.6956G>T c.6360G>T (p.Ala2120=) c.6213+1363G>T (n.6213+1363G>T) | |
| 17 | g.18145956G>A | CA398606652 | MYO15A | c.6358G>A (p.Val2120Met) c.6298G>A (p.Val2100Met) c.6352G>A (p.Val2118Met) n.6957G>A c.6361G>A (p.Val2121Met) c.6213+1364G>A (n.6213+1364G>A) | |
| 17 | g.18145956G>C | CA398606654 | MYO15A | c.6358G>C (p.Val2120Leu) c.6298G>C (p.Val2100Leu) c.6352G>C (p.Val2118Leu) n.6957G>C c.6361G>C (p.Val2121Leu) c.6213+1364G>C (n.6213+1364G>C) | |
| 17 | g.18145956G>T | CA398606655 | MYO15A | c.6358G>T (p.Val2120Leu) c.6298G>T (p.Val2100Leu) c.6352G>T (p.Val2118Leu) n.6957G>T c.6361G>T (p.Val2121Leu) c.6213+1364G>T (n.6213+1364G>T) | |
| 17 | g.18145957T>A | CA398606662 | MYO15A | c.6359T>A (p.Val2120Glu) c.6299T>A (p.Val2100Glu) c.6353T>A (p.Val2118Glu) n.6958T>A c.6362T>A (p.Val2121Glu) c.6213+1365T>A (n.6213+1365T>A) | |
| 17 | g.18145957T>C | CA398606660 | MYO15A | c.6359T>C (p.Val2120Ala) c.6299T>C (p.Val2100Ala) c.6353T>C (p.Val2118Ala) n.6958T>C c.6362T>C (p.Val2121Ala) c.6213+1365T>C (n.6213+1365T>C) | |
| 17 | g.18145957T>G | CA398606659 | MYO15A | c.6359T>G (p.Val2120Gly) c.6299T>G (p.Val2100Gly) c.6353T>G (p.Val2118Gly) n.6958T>G c.6362T>G (p.Val2121Gly) c.6213+1365T>G (n.6213+1365T>G) | dbSNP |
| 17 | g.18145957T= | CA2250850330 | MYO15A | c.6359T= (p.Val2120=) c.6299T= (p.Val2100=) c.6353T= (p.Val2118=) n.6958T= c.6362T= (p.Val2121=) c.6213+1365T= (n.6213+1365T=) | |
| 17 | g.18145958G>A | CA498430467 | MYO15A | c.6360G>A (p.Val2120=) c.6300G>A (p.Val2100=) c.6354G>A (p.Val2118=) n.6959G>A c.6363G>A (p.Val2121=) c.6213+1366G>A (n.6213+1366G>A) | |
| 17 | g.18145958G>C | CA498430468 | MYO15A | c.6360G>C (p.Val2120=) c.6300G>C (p.Val2100=) c.6354G>C (p.Val2118=) n.6959G>C c.6363G>C (p.Val2121=) c.6213+1366G>C (n.6213+1366G>C) | |
| 17 | g.18145958G= | CA2250850331 | MYO15A | c.6360G= (p.Val2120=) c.6300G= (p.Val2100=) c.6354G= (p.Val2118=) n.6959G= c.6363G= (p.Val2121=) c.6213+1366G= (n.6213+1366G=) | |
| 17 | g.18145958G>T | CA498430469 | MYO15A | c.6360G>T (p.Val2120=) c.6300G>T (p.Val2100=) c.6354G>T (p.Val2118=) n.6959G>T c.6363G>T (p.Val2121=) c.6213+1366G>T (n.6213+1366G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.18145959C>A | CA398606664 | MYO15A | c.6361C>A (p.Pro2121Thr) c.6301C>A (p.Pro2101Thr) c.6355C>A (p.Pro2119Thr) n.6960C>A c.6364C>A (p.Pro2122Thr) c.6213+1367C>A (n.6213+1367C>A) | |
| 17 | g.18145959C= | CA2250850332 | MYO15A | c.6361C= (p.Pro2121=) c.6301C= (p.Pro2101=) c.6355C= (p.Pro2119=) n.6960C= c.6364C= (p.Pro2122=) c.6213+1367C= (n.6213+1367C=) | |
| 17 | g.18145959C>G | CA398606666 | MYO15A | c.6361C>G (p.Pro2121Ala) c.6301C>G (p.Pro2101Ala) c.6355C>G (p.Pro2119Ala) n.6960C>G c.6364C>G (p.Pro2122Ala) c.6213+1367C>G (n.6213+1367C>G) | |
| 17 | g.18145959C>T | CA398606667 | MYO15A | c.6361C>T (p.Pro2121Ser) c.6301C>T (p.Pro2101Ser) c.6355C>T (p.Pro2119Ser) n.6960C>T c.6364C>T (p.Pro2122Ser) c.6213+1367C>T (n.6213+1367C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.18145960C>A | CA398606669 | MYO15A | c.6362C>A (p.Pro2121His) c.6302C>A (p.Pro2101His) c.6356C>A (p.Pro2119His) n.6961C>A c.6365C>A (p.Pro2122His) c.6213+1368C>A (n.6213+1368C>A) | |
| 17 | g.18145960C= | CA2250850333 | MYO15A | c.6362C= (p.Pro2121=) c.6302C= (p.Pro2101=) c.6356C= (p.Pro2119=) n.6961C= c.6365C= (p.Pro2122=) c.6213+1368C= (n.6213+1368C=) | |
| 17 | g.18145960C>G | CA398606671 | MYO15A | c.6362C>G (p.Pro2121Arg) c.6302C>G (p.Pro2101Arg) c.6356C>G (p.Pro2119Arg) n.6961C>G c.6365C>G (p.Pro2122Arg) c.6213+1368C>G (n.6213+1368C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.18145960C>T | CA398606673 | MYO15A | c.6362C>T (p.Pro2121Leu) c.6302C>T (p.Pro2101Leu) c.6356C>T (p.Pro2119Leu) n.6961C>T c.6365C>T (p.Pro2122Leu) c.6213+1368C>T (n.6213+1368C>T) | |
| 17 | g.18145961T>A | CA498430470 | MYO15A | c.6363T>A (p.Pro2121=) c.6303T>A (p.Pro2101=) c.6357T>A (p.Pro2119=) n.6962T>A c.6366T>A (p.Pro2122=) c.6213+1369T>A (n.6213+1369T>A) | |
| 17 | g.18145961T>C | CA498430472 | MYO15A | c.6363T>C (p.Pro2121=) c.6303T>C (p.Pro2101=) c.6357T>C (p.Pro2119=) n.6962T>C c.6366T>C (p.Pro2122=) c.6213+1369T>C (n.6213+1369T>C) | gnomAD v4 |
| 17 | g.18145961T>G | CA498430471 | MYO15A | c.6363T>G (p.Pro2121=) c.6303T>G (p.Pro2101=) c.6357T>G (p.Pro2119=) n.6962T>G c.6366T>G (p.Pro2122=) c.6213+1369T>G (n.6213+1369T>G) | |
| 17 | g.18145962G>A | CA398606675 | MYO15A | c.6364G>A (p.Glu2122Lys) c.6304G>A (p.Glu2102Lys) c.6358G>A (p.Glu2120Lys) n.6963G>A c.6367G>A (p.Glu2123Lys) c.6213+1370G>A (n.6213+1370G>A) | gnomAD v4 |
| 17 | g.18145962G>C | CA398606677 | MYO15A | c.6364G>C (p.Glu2122Gln) c.6304G>C (p.Glu2102Gln) c.6358G>C (p.Glu2120Gln) n.6963G>C c.6367G>C (p.Glu2123Gln) c.6213+1370G>C (n.6213+1370G>C) | gnomAD v4 |
| 17 | g.18145962G>T | CA398606679 | MYO15A | c.6364G>T (p.Glu2122Ter) c.6304G>T (p.Glu2102Ter) c.6358G>T (p.Glu2120Ter) n.6963G>T c.6367G>T (p.Glu2123Ter) c.6213+1370G>T (n.6213+1370G>T) | |
| 17 | g.18145963A= | CA2250850334 | MYO15A | c.6365A= (p.Glu2122=) c.6305A= (p.Glu2102=) c.6359A= (p.Glu2120=) n.6964A= c.6368A= (p.Glu2123=) c.6213+1371A= (n.6213+1371A=) | |
| 17 | g.18145963A>C | CA398606682 | MYO15A | c.6365A>C (p.Glu2122Ala) c.6305A>C (p.Glu2102Ala) c.6359A>C (p.Glu2120Ala) n.6964A>C c.6368A>C (p.Glu2123Ala) c.6213+1371A>C (n.6213+1371A>C) | |
| 17 | g.18145963A>G | CA8424578 | MYO15A | c.6365A>G (p.Glu2122Gly) c.6305A>G (p.Glu2102Gly) c.6359A>G (p.Glu2120Gly) n.6964A>G c.6368A>G (p.Glu2123Gly) c.6213+1371A>G (n.6213+1371A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.18145963A>T | CA398606684 | MYO15A | c.6365A>T (p.Glu2122Val) c.6305A>T (p.Glu2102Val) c.6359A>T (p.Glu2120Val) n.6964A>T c.6368A>T (p.Glu2123Val) c.6213+1371A>T (n.6213+1371A>T) | |
| 17 | g.18145964G>A | CA498430473 | MYO15A | c.6366G>A (p.Glu2122=) c.6306G>A (p.Glu2102=) c.6360G>A (p.Glu2120=) n.6965G>A c.6369G>A (p.Glu2123=) c.6213+1372G>A (n.6213+1372G>A) | |
| 17 | g.18145964G>C | CA398606687 | MYO15A | c.6366G>C (p.Glu2122Asp) c.6306G>C (p.Glu2102Asp) c.6360G>C (p.Glu2120Asp) n.6965G>C c.6369G>C (p.Glu2123Asp) c.6213+1372G>C (n.6213+1372G>C) | |
| 17 | g.18145964G= | CA2250850335 | MYO15A | c.6366G= (p.Glu2122=) c.6306G= (p.Glu2102=) c.6360G= (p.Glu2120=) n.6965G= c.6369G= (p.Glu2123=) c.6213+1372G= (n.6213+1372G=) | |
| 17 | g.18145964G>T | CA398606686 | MYO15A | c.6366G>T (p.Glu2122Asp) c.6306G>T (p.Glu2102Asp) c.6360G>T (p.Glu2120Asp) n.6965G>T c.6369G>T (p.Glu2123Asp) c.6213+1372G>T (n.6213+1372G>T) | gnomAD v4 |
| 17 | g.18145965C>A | CA288407420 | MYO15A | c.6367C>A (p.Leu2123Met) c.6307C>A (p.Leu2103Met) c.6361C>A (p.Leu2121Met) n.6966C>A c.6370C>A (p.Leu2124Met) c.6213+1373C>A (n.6213+1373C>A) | ClinVar dbSNP gnomAD v3 |
| 17 | g.18145965C= | CA2250850336 | MYO15A | c.6367C= (p.Leu2123=) c.6307C= (p.Leu2103=) c.6361C= (p.Leu2121=) n.6966C= c.6370C= (p.Leu2124=) c.6213+1373C= (n.6213+1373C=) | |
| 17 | g.18145965C>G | CA398606691 | MYO15A | c.6367C>G (p.Leu2123Val) c.6307C>G (p.Leu2103Val) c.6361C>G (p.Leu2121Val) n.6966C>G c.6370C>G (p.Leu2124Val) c.6213+1373C>G (n.6213+1373C>G) | |
| 17 | g.18145965C>T | CA498430474 | MYO15A | c.6367C>T (p.Leu2123=) c.6307C>T (p.Leu2103=) c.6361C>T (p.Leu2121=) n.6966C>T c.6370C>T (p.Leu2124=) c.6213+1373C>T (n.6213+1373C>T) | ClinVar dbSNP gnomAD v4 |
| 17 | g.18145965dup | CA8424579 | MYO15A | c.6367dup (p.Leu2123ProfsTer4) c.6307dup (p.Leu2103ProfsTer4) c.6361dup (p.Leu2121ProfsTer4) n.6966dup c.6370dup (p.Leu2124ProfsTer4) c.6213+1373dup (n.6213+1373dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.18145966T>A | CA398606694 | MYO15A | c.6368T>A (p.Leu2123Gln) c.6308T>A (p.Leu2103Gln) c.6362T>A (p.Leu2121Gln) n.6967T>A c.6371T>A (p.Leu2124Gln) c.6213+1374T>A (n.6213+1374T>A) | |
| 17 | g.18145966T>C | CA398606696 | MYO15A | c.6368T>C (p.Leu2123Pro) c.6308T>C (p.Leu2103Pro) c.6362T>C (p.Leu2121Pro) n.6967T>C c.6371T>C (p.Leu2124Pro) c.6213+1374T>C (n.6213+1374T>C) | gnomAD v4 |
| 17 | g.18145966T>G | CA398606697 | MYO15A | c.6368T>G (p.Leu2123Arg) c.6308T>G (p.Leu2103Arg) c.6362T>G (p.Leu2121Arg) n.6967T>G c.6371T>G (p.Leu2124Arg) c.6213+1374T>G (n.6213+1374T>G) | |
| 17 | g.18145967G>A | CA8424580 | MYO15A | c.6369G>A (p.Leu2123=) c.6309G>A (p.Leu2103=) c.6363G>A (p.Leu2121=) n.6968G>A c.6372G>A (p.Leu2124=) c.6213+1375G>A (n.6213+1375G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.18145967G>C | CA498430475 | MYO15A | c.6369G>C (p.Leu2123=) c.6309G>C (p.Leu2103=) c.6363G>C (p.Leu2121=) n.6968G>C c.6372G>C (p.Leu2124=) c.6213+1375G>C (n.6213+1375G>C) | |
| 17 | g.18145967G= | CA2250850337 | MYO15A | c.6369G= (p.Leu2123=) c.6309G= (p.Leu2103=) c.6363G= (p.Leu2121=) n.6968G= c.6372G= (p.Leu2124=) c.6213+1375G= (n.6213+1375G=) | |
| 17 | g.18145967G>T | CA498430476 | MYO15A | c.6369G>T (p.Leu2123=) c.6309G>T (p.Leu2103=) c.6363G>T (p.Leu2121=) n.6968G>T c.6372G>T (p.Leu2124=) c.6213+1375G>T (n.6213+1375G>T) | gnomAD v4 |
| 17 | g.18145968C>A | CA498430477 | MYO15A | c.6370C>A (p.Arg2124=) c.6310C>A (p.Arg2104=) c.6364C>A (p.Arg2122=) n.6969C>A c.6373C>A (p.Arg2125=) c.6213+1376C>A (n.6213+1376C>A) | gnomAD v4 |
| 17 | g.18145968C= | CA2250850338 | MYO15A | c.6370C= (p.Arg2124=) c.6310C= (p.Arg2104=) c.6364C= (p.Arg2122=) n.6969C= c.6373C= (p.Arg2125=) c.6213+1376C= (n.6213+1376C=) | |
| 17 | g.18145968C>G | CA398606700 | MYO15A | c.6370C>G (p.Arg2124Gly) c.6310C>G (p.Arg2104Gly) c.6364C>G (p.Arg2122Gly) n.6969C>G c.6373C>G (p.Arg2125Gly) c.6213+1376C>G (n.6213+1376C>G) | gnomAD v4 |
| 17 | g.18145968C>T | CA8424581 | MYO15A | c.6370C>T (p.Arg2124Trp) c.6310C>T (p.Arg2104Trp) c.6364C>T (p.Arg2122Trp) n.6969C>T c.6373C>T (p.Arg2125Trp) c.6213+1376C>T (n.6213+1376C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.18145969G>A | CA8424582 | MYO15A | c.6371G>A (p.Arg2124Gln) c.6311G>A (p.Arg2104Gln) c.6365G>A (p.Arg2122Gln) n.6970G>A c.6374G>A (p.Arg2125Gln) c.6213+1377G>A (n.6213+1377G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.18145969G>C | CA398606704 | MYO15A | c.6371G>C (p.Arg2124Pro) c.6311G>C (p.Arg2104Pro) c.6365G>C (p.Arg2122Pro) n.6970G>C c.6374G>C (p.Arg2125Pro) c.6213+1377G>C (n.6213+1377G>C) | |
| 17 | g.18145969G= | CA2250850339 | MYO15A | c.6371G= (p.Arg2124=) c.6311G= (p.Arg2104=) c.6365G= (p.Arg2122=) n.6970G= c.6374G= (p.Arg2125=) c.6213+1377G= (n.6213+1377G=) | |
| 17 | g.18145969G>T | CA398606706 | MYO15A | c.6371G>T (p.Arg2124Leu) c.6311G>T (p.Arg2104Leu) c.6365G>T (p.Arg2122Leu) n.6970G>T c.6374G>T (p.Arg2125Leu) c.6213+1377G>T (n.6213+1377G>T) | |
| 17 | g.18145970G>A | CA498430478 | MYO15A | c.6372G>A (p.Arg2124=) c.6312G>A (p.Arg2104=) c.6366G>A (p.Arg2122=) n.6971G>A c.6375G>A (p.Arg2125=) c.6213+1378G>A (n.6213+1378G>A) | gnomAD v4 |
| 17 | g.18145970G>C | CA498430479 | MYO15A | c.6372G>C (p.Arg2124=) c.6312G>C (p.Arg2104=) c.6366G>C (p.Arg2122=) n.6971G>C c.6375G>C (p.Arg2125=) c.6213+1378G>C (n.6213+1378G>C) | |
| 17 | g.18145970G>T | CA498430480 | MYO15A | c.6372G>T (p.Arg2124=) c.6312G>T (p.Arg2104=) c.6366G>T (p.Arg2122=) n.6971G>T c.6375G>T (p.Arg2125=) c.6213+1378G>T (n.6213+1378G>T) | |
| 17 | g.18145971G>A | CA398606710 | MYO15A | c.6373G>A (p.Asp2125Asn) c.6313G>A (p.Asp2105Asn) c.6367G>A (p.Asp2123Asn) n.6972G>A c.6376G>A (p.Asp2126Asn) c.6213+1379G>A (n.6213+1379G>A) | |
| 17 | g.18145971G>C | CA398606712 | MYO15A | c.6373G>C (p.Asp2125His) c.6313G>C (p.Asp2105His) c.6367G>C (p.Asp2123His) n.6972G>C c.6376G>C (p.Asp2126His) c.6213+1379G>C (n.6213+1379G>C) | |
| 17 | g.18145971G>T | CA398606708 | MYO15A | c.6373G>T (p.Asp2125Tyr) c.6313G>T (p.Asp2105Tyr) c.6367G>T (p.Asp2123Tyr) n.6972G>T c.6376G>T (p.Asp2126Tyr) c.6213+1379G>T (n.6213+1379G>T) | gnomAD v4 |
| 17 | g.18145972A>C | CA398606715 | MYO15A | c.6374A>C (p.Asp2125Ala) c.6314A>C (p.Asp2105Ala) c.6368A>C (p.Asp2123Ala) n.6973A>C c.6377A>C (p.Asp2126Ala) c.6213+1380A>C (n.6213+1380A>C) | |
| 17 | g.18145972A>G | CA398606716 | MYO15A | c.6374A>G (p.Asp2125Gly) c.6314A>G (p.Asp2105Gly) c.6368A>G (p.Asp2123Gly) n.6973A>G c.6377A>G (p.Asp2126Gly) c.6213+1380A>G (n.6213+1380A>G) | |
| 17 | g.18145972A>T | CA398606719 | MYO15A | c.6374A>T (p.Asp2125Val) c.6314A>T (p.Asp2105Val) c.6368A>T (p.Asp2123Val) n.6973A>T c.6377A>T (p.Asp2126Val) c.6213+1380A>T (n.6213+1380A>T) | gnomAD v4 |
| 17 | g.18145973T>A | CA398606721 | MYO15A | c.6375T>A (p.Asp2125Glu) c.6315T>A (p.Asp2105Glu) c.6369T>A (p.Asp2123Glu) n.6974T>A c.6378T>A (p.Asp2126Glu) c.6213+1381T>A (n.6213+1381T>A) | |
| 17 | g.18145973T>C | CA498430481 | MYO15A | c.6375T>C (p.Asp2125=) c.6315T>C (p.Asp2105=) c.6369T>C (p.Asp2123=) n.6974T>C c.6378T>C (p.Asp2126=) c.6213+1381T>C (n.6213+1381T>C) | dbSNP |
| 17 | g.18145973T>G | CA398606722 | MYO15A | c.6375T>G (p.Asp2125Glu) c.6315T>G (p.Asp2105Glu) c.6369T>G (p.Asp2123Glu) n.6974T>G c.6378T>G (p.Asp2126Glu) c.6213+1381T>G (n.6213+1381T>G) | gnomAD v4 |
| 17 | g.18145974G>A | CA398606729 | MYO15A | c.6376G>A (p.Glu2126Lys) c.6316G>A (p.Glu2106Lys) c.6370G>A (p.Glu2124Lys) n.6975G>A c.6379G>A (p.Glu2127Lys) c.6213+1382G>A (n.6213+1382G>A) | |
| 17 | g.18145974G>C | CA398606725 | MYO15A | c.6376G>C (p.Glu2126Gln) c.6316G>C (p.Glu2106Gln) c.6370G>C (p.Glu2124Gln) n.6975G>C c.6379G>C (p.Glu2127Gln) c.6213+1382G>C (n.6213+1382G>C) | |
| 17 | g.18145974G>T | CA398606727 | MYO15A | c.6376G>T (p.Glu2126Ter) c.6316G>T (p.Glu2106Ter) c.6370G>T (p.Glu2124Ter) n.6975G>T c.6379G>T (p.Glu2127Ter) c.6213+1382G>T (n.6213+1382G>T) | |
| 17 | g.18145975A>C | CA398606732 | MYO15A | c.6377A>C (p.Glu2126Ala) c.6317A>C (p.Glu2106Ala) c.6371A>C (p.Glu2124Ala) n.6976A>C c.6380A>C (p.Glu2127Ala) c.6213+1383A>C (n.6213+1383A>C) | |
| 17 | g.18145975A>G | CA398606733 | MYO15A | c.6377A>G (p.Glu2126Gly) c.6317A>G (p.Glu2106Gly) c.6371A>G (p.Glu2124Gly) n.6976A>G c.6380A>G (p.Glu2127Gly) c.6213+1383A>G (n.6213+1383A>G) | |
| 17 | g.18145975A>T | CA398606735 | MYO15A | c.6377A>T (p.Glu2126Val) c.6317A>T (p.Glu2106Val) c.6371A>T (p.Glu2124Val) n.6976A>T c.6380A>T (p.Glu2127Val) c.6213+1383A>T (n.6213+1383A>T) | |
| 17 | g.18145976G>A | CA498430482 | MYO15A | c.6378G>A (p.Glu2126=) c.6318G>A (p.Glu2106=) c.6372G>A (p.Glu2124=) n.6977G>A c.6381G>A (p.Glu2127=) c.6213+1384G>A (n.6213+1384G>A) | |
| 17 | g.18145976G>C | CA398606737 | MYO15A | c.6378G>C (p.Glu2126Asp) c.6318G>C (p.Glu2106Asp) c.6372G>C (p.Glu2124Asp) n.6977G>C c.6381G>C (p.Glu2127Asp) c.6213+1384G>C (n.6213+1384G>C) | ClinVar dbSNP |
| 17 | g.18145976G= | CA2250850340 | MYO15A | c.6378G= (p.Glu2126=) c.6318G= (p.Glu2106=) c.6372G= (p.Glu2124=) n.6977G= c.6381G= (p.Glu2127=) c.6213+1384G= (n.6213+1384G=) | |
| 17 | g.18145976G>T | CA398606739 | MYO15A | c.6378G>T (p.Glu2126Asp) c.6318G>T (p.Glu2106Asp) c.6372G>T (p.Glu2124Asp) n.6977G>T c.6381G>T (p.Glu2127Asp) c.6213+1384G>T (n.6213+1384G>T) | |
| 17 | g.18145977A= | CA2250850341 | MYO15A | c.6379A= (p.Ile2127=) c.6319A= (p.Ile2107=) c.6373A= (p.Ile2125=) n.6978A= c.6382A= (p.Ile2128=) c.6213+1385A= (n.6213+1385A=) | |
| 17 | g.18145977A>C | CA398606743 | MYO15A | c.6379A>C (p.Ile2127Leu) c.6319A>C (p.Ile2107Leu) c.6373A>C (p.Ile2125Leu) n.6978A>C c.6382A>C (p.Ile2128Leu) c.6213+1385A>C (n.6213+1385A>C) | |
| 17 | g.18145977A>G | CA8424583 | MYO15A | c.6379A>G (p.Ile2127Val) c.6319A>G (p.Ile2107Val) c.6373A>G (p.Ile2125Val) n.6978A>G c.6382A>G (p.Ile2128Val) c.6213+1385A>G (n.6213+1385A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.18145977A>T | CA398606741 | MYO15A | c.6379A>T (p.Ile2127Phe) c.6319A>T (p.Ile2107Phe) c.6373A>T (p.Ile2125Phe) n.6978A>T c.6382A>T (p.Ile2128Phe) c.6213+1385A>T (n.6213+1385A>T) | |
| 17 | g.18145978T>A | CA398606745 | MYO15A | c.6380T>A (p.Ile2127Asn) c.6320T>A (p.Ile2107Asn) c.6374T>A (p.Ile2125Asn) n.6979T>A c.6383T>A (p.Ile2128Asn) c.6213+1386T>A (n.6213+1386T>A) | |
| 17 | g.18145978T>C | CA398606748 | MYO15A | c.6380T>C (p.Ile2127Thr) c.6320T>C (p.Ile2107Thr) c.6374T>C (p.Ile2125Thr) n.6979T>C c.6383T>C (p.Ile2128Thr) c.6213+1386T>C (n.6213+1386T>C) | gnomAD v4 |
| 17 | g.18145978T>G | CA398606746 | MYO15A | c.6380T>G (p.Ile2127Ser) c.6320T>G (p.Ile2107Ser) c.6374T>G (p.Ile2125Ser) n.6979T>G c.6383T>G (p.Ile2128Ser) c.6213+1386T>G (n.6213+1386T>G) | |
| 17 | g.18145979C>A | CA498430484 | MYO15A | c.6381C>A (p.Ile2127=) c.6321C>A (p.Ile2107=) c.6375C>A (p.Ile2125=) n.6980C>A c.6384C>A (p.Ile2128=) c.6213+1387C>A (n.6213+1387C>A) | dbSNP gnomAD v4 |
| 17 | g.18145979C= | CA2250850342 | MYO15A | c.6381C= (p.Ile2127=) c.6321C= (p.Ile2107=) c.6375C= (p.Ile2125=) n.6980C= c.6384C= (p.Ile2128=) c.6213+1387C= (n.6213+1387C=) | |
| 17 | g.18145979C>G | CA398606750 | MYO15A | c.6381C>G (p.Ile2127Met) c.6321C>G (p.Ile2107Met) c.6375C>G (p.Ile2125Met) n.6980C>G c.6384C>G (p.Ile2128Met) c.6213+1387C>G (n.6213+1387C>G) | |
| 17 | g.18145979C>T | CA498430483 | MYO15A | c.6381C>T (p.Ile2127=) c.6321C>T (p.Ile2107=) c.6375C>T (p.Ile2125=) n.6980C>T c.6384C>T (p.Ile2128=) c.6213+1387C>T (n.6213+1387C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.18145980C>A | CA398606753 | MYO15A | c.6382C>A (p.Leu2128Met) c.6322C>A (p.Leu2108Met) c.6376C>A (p.Leu2126Met) n.6981C>A c.6385C>A (p.Leu2129Met) c.6213+1388C>A (n.6213+1388C>A) | |
| 17 | g.18145980C>G | CA398606754 | MYO15A | c.6382C>G (p.Leu2128Val) c.6322C>G (p.Leu2108Val) c.6376C>G (p.Leu2126Val) n.6981C>G c.6385C>G (p.Leu2129Val) c.6213+1388C>G (n.6213+1388C>G) | |
| 17 | g.18145980C>T | CA498430485 | MYO15A | c.6382C>T (p.Leu2128=) c.6322C>T (p.Leu2108=) c.6376C>T (p.Leu2126=) n.6981C>T c.6385C>T (p.Leu2129=) c.6213+1388C>T (n.6213+1388C>T) | gnomAD v4 |
| 17 | g.18145981T>A | CA398606757 | MYO15A | c.6383T>A (p.Leu2128Gln) c.6323T>A (p.Leu2108Gln) c.6377T>A (p.Leu2126Gln) n.6982T>A c.6386T>A (p.Leu2129Gln) c.6213+1389T>A (n.6213+1389T>A) | |
| 17 | g.18145981T>C | CA398606759 | MYO15A | c.6383T>C (p.Leu2128Pro) c.6323T>C (p.Leu2108Pro) c.6377T>C (p.Leu2126Pro) n.6982T>C c.6386T>C (p.Leu2129Pro) c.6213+1389T>C (n.6213+1389T>C) | |
| 17 | g.18145981T>G | CA398606760 | MYO15A | c.6383T>G (p.Leu2128Arg) c.6323T>G (p.Leu2108Arg) c.6377T>G (p.Leu2126Arg) n.6982T>G c.6386T>G (p.Leu2129Arg) c.6213+1389T>G (n.6213+1389T>G) | |
| 17 | g.18145982G>A | CA498430486 | MYO15A | c.6384G>A (p.Leu2128=) c.6324G>A (p.Leu2108=) c.6378G>A (p.Leu2126=) n.6983G>A c.6387G>A (p.Leu2129=) c.6213+1390G>A (n.6213+1390G>A) | |
| 17 | g.18145982G>C | CA498430487 | MYO15A | c.6384G>C (p.Leu2128=) c.6324G>C (p.Leu2108=) c.6378G>C (p.Leu2126=) n.6983G>C c.6387G>C (p.Leu2129=) c.6213+1390G>C (n.6213+1390G>C) | |
| 17 | g.18145982G>T | CA498430488 | MYO15A | c.6384G>T (p.Leu2128=) c.6324G>T (p.Leu2108=) c.6378G>T (p.Leu2126=) n.6983G>T c.6387G>T (p.Leu2129=) c.6213+1390G>T (n.6213+1390G>T) | |
| 17 | g.18145983G>A | CA398606763 | MYO15A | c.6385G>A (p.Ala2129Thr) c.6325G>A (p.Ala2109Thr) c.6379G>A (p.Ala2127Thr) n.6984G>A c.6388G>A (p.Ala2130Thr) c.6213+1391G>A (n.6213+1391G>A) | |
| 17 | g.18145983G>C | CA398606765 | MYO15A | c.6385G>C (p.Ala2129Pro) c.6325G>C (p.Ala2109Pro) c.6379G>C (p.Ala2127Pro) n.6984G>C c.6388G>C (p.Ala2130Pro) c.6213+1391G>C (n.6213+1391G>C) | |
| 17 | g.18145983G>T | CA398606767 | MYO15A | c.6385G>T (p.Ala2129Ser) c.6325G>T (p.Ala2109Ser) c.6379G>T (p.Ala2127Ser) n.6984G>T c.6388G>T (p.Ala2130Ser) c.6213+1391G>T (n.6213+1391G>T) | |
| 17 | g.18145984C>A | CA398606769 | MYO15A | c.6386C>A (p.Ala2129Glu) c.6326C>A (p.Ala2109Glu) c.6380C>A (p.Ala2127Glu) n.6985C>A c.6389C>A (p.Ala2130Glu) c.6213+1392C>A (n.6213+1392C>A) | |
| 17 | g.18145984C>G | CA398606771 | MYO15A | c.6386C>G (p.Ala2129Gly) c.6326C>G (p.Ala2109Gly) c.6380C>G (p.Ala2127Gly) n.6985C>G c.6389C>G (p.Ala2130Gly) c.6213+1392C>G (n.6213+1392C>G) | |
| 17 | g.18145984C>T | CA398606772 | MYO15A | c.6386C>T (p.Ala2129Val) c.6326C>T (p.Ala2109Val) c.6380C>T (p.Ala2127Val) n.6985C>T c.6389C>T (p.Ala2130Val) c.6213+1392C>T (n.6213+1392C>T) | gnomAD v4 |
| 17 | g.18145985A>C | CA498430489 | MYO15A | c.6387A>C (p.Ala2129=) c.6327A>C (p.Ala2109=) c.6381A>C (p.Ala2127=) n.6986A>C c.6390A>C (p.Ala2130=) c.6213+1393A>C (n.6213+1393A>C) | |
| 17 | g.18145985A>G | CA498430491 | MYO15A | c.6387A>G (p.Ala2129=) c.6327A>G (p.Ala2109=) c.6381A>G (p.Ala2127=) n.6986A>G c.6390A>G (p.Ala2130=) c.6213+1393A>G (n.6213+1393A>G) | |
| 17 | g.18145985A>T | CA498430490 | MYO15A | c.6387A>T (p.Ala2129=) c.6327A>T (p.Ala2109=) c.6381A>T (p.Ala2127=) n.6986A>T c.6390A>T (p.Ala2130=) c.6213+1393A>T (n.6213+1393A>T) | COSMIC |
| 17 | g.18145986C>A | CA398606779 | MYO15A | c.6388C>A (p.Gln2130Lys) c.6328C>A (p.Gln2110Lys) c.6382C>A (p.Gln2128Lys) n.6987C>A c.6391C>A (p.Gln2131Lys) c.6213+1394C>A (n.6213+1394C>A) | |
| 17 | g.18145986C>G | CA398606776 | MYO15A | c.6388C>G (p.Gln2130Glu) c.6328C>G (p.Gln2110Glu) c.6382C>G (p.Gln2128Glu) n.6987C>G c.6391C>G (p.Gln2131Glu) c.6213+1394C>G (n.6213+1394C>G) | |
| 17 | g.18145986C>T | CA398606777 | MYO15A | c.6388C>T (p.Gln2130Ter) c.6328C>T (p.Gln2110Ter) c.6382C>T (p.Gln2128Ter) n.6987C>T c.6391C>T (p.Gln2131Ter) c.6213+1394C>T (n.6213+1394C>T) | gnomAD v4 |
| 17 | g.18145988_18145995del | CA2636448338 | MYO15A | c.6390_6397del (p.Leu2131SerfsTer12) c.6330_6337del (p.Leu2111SerfsTer12) c.6330_6337del (p.Leu2111SerfsTer?) c.6384_6391del (p.Leu2129SerfsTer12) n.6989_6996del c.6393_6400del (p.Leu2132SerfsTer12) c.6213+1396_6213+1403del (n.6213+1396_6213+1403del) | gnomAD v4 |
| 17 | g.18145987A>C | CA398606781 | MYO15A | c.6389A>C (p.Gln2130Pro) c.6329A>C (p.Gln2110Pro) c.6383A>C (p.Gln2128Pro) n.6988A>C c.6392A>C (p.Gln2131Pro) c.6213+1395A>C (n.6213+1395A>C) | |
| 17 | g.18145987A>G | CA398606783 | MYO15A | c.6389A>G (p.Gln2130Arg) c.6329A>G (p.Gln2110Arg) c.6383A>G (p.Gln2128Arg) n.6988A>G c.6392A>G (p.Gln2131Arg) c.6213+1395A>G (n.6213+1395A>G) | gnomAD v4 |
| 17 | g.18145987A>T | CA398606785 | MYO15A | c.6389A>T (p.Gln2130Leu) c.6329A>T (p.Gln2110Leu) c.6383A>T (p.Gln2128Leu) n.6988A>T c.6392A>T (p.Gln2131Leu) c.6213+1395A>T (n.6213+1395A>T) | |
| 17 | g.18145988G>A | CA498430492 | MYO15A | c.6390G>A (p.Gln2130=) c.6330G>A (p.Gln2110=) c.6384G>A (p.Gln2128=) n.6989G>A c.6393G>A (p.Gln2131=) c.6213+1396G>A (n.6213+1396G>A) | |
| 17 | g.18145988G>C | CA398606787 | MYO15A | c.6390G>C (p.Gln2130His) c.6330G>C (p.Gln2110His) c.6384G>C (p.Gln2128His) n.6989G>C c.6393G>C (p.Gln2131His) c.6213+1396G>C (n.6213+1396G>C) | |
| 17 | g.18145988G>T | CA398606789 | MYO15A | c.6390G>T (p.Gln2130His) c.6330G>T (p.Gln2110His) c.6384G>T (p.Gln2128His) n.6989G>T c.6393G>T (p.Gln2131His) c.6213+1396G>T (n.6213+1396G>T) | |
| 17 | g.18145989C>A | CA398606790 | MYO15A | c.6391C>A (p.Leu2131Met) c.6331C>A (p.Leu2111Met) c.6385C>A (p.Leu2129Met) n.6990C>A c.6394C>A (p.Leu2132Met) c.6213+1397C>A (n.6213+1397C>A) | |
| 17 | g.18145989C= | CA2250850343 | MYO15A | c.6391C= (p.Leu2131=) c.6331C= (p.Leu2111=) c.6385C= (p.Leu2129=) n.6990C= c.6394C= (p.Leu2132=) c.6213+1397C= (n.6213+1397C=) | |
| 17 | g.18145989C>G | CA398606792 | MYO15A | c.6391C>G (p.Leu2131Val) c.6331C>G (p.Leu2111Val) c.6385C>G (p.Leu2129Val) n.6990C>G c.6394C>G (p.Leu2132Val) c.6213+1397C>G (n.6213+1397C>G) | |
| 17 | g.18145989C>T | CA498430493 | MYO15A | c.6391C>T (p.Leu2131=) c.6331C>T (p.Leu2111=) c.6385C>T (p.Leu2129=) n.6990C>T c.6394C>T (p.Leu2132=) c.6213+1397C>T (n.6213+1397C>T) | dbSNP |
| 17 | g.18145990T>A | CA398606795 | MYO15A | c.6392T>A (p.Leu2131Gln) c.6332T>A (p.Leu2111Gln) c.6386T>A (p.Leu2129Gln) n.6991T>A c.6395T>A (p.Leu2132Gln) c.6213+1398T>A (n.6213+1398T>A) | |
| 17 | g.18145990T>C | CA398606796 | MYO15A | c.6392T>C (p.Leu2131Pro) c.6332T>C (p.Leu2111Pro) c.6386T>C (p.Leu2129Pro) n.6991T>C c.6395T>C (p.Leu2132Pro) c.6213+1398T>C (n.6213+1398T>C) | |
| 17 | g.18145990T>G | CA398606799 | MYO15A | c.6392T>G (p.Leu2131Arg) c.6332T>G (p.Leu2111Arg) c.6386T>G (p.Leu2129Arg) n.6991T>G c.6395T>G (p.Leu2132Arg) c.6213+1398T>G (n.6213+1398T>G) | |
| 17 | g.18145991G>A | CA498430494 | MYO15A | c.6393G>A (p.Leu2131=) c.6333G>A (p.Leu2111=) c.6387G>A (p.Leu2129=) n.6992G>A c.6396G>A (p.Leu2132=) c.6213+1399G>A (n.6213+1399G>A) | gnomAD v4 |
| 17 | g.18145991G>C | CA498430495 | MYO15A | c.6393G>C (p.Leu2131=) c.6333G>C (p.Leu2111=) c.6387G>C (p.Leu2129=) n.6992G>C c.6396G>C (p.Leu2132=) c.6213+1399G>C (n.6213+1399G>C) | |
| 17 | g.18145991G>T | CA498430496 | MYO15A | c.6393G>T (p.Leu2131=) c.6333G>T (p.Leu2111=) c.6387G>T (p.Leu2129=) n.6992G>T c.6396G>T (p.Leu2132=) c.6213+1399G>T (n.6213+1399G>T) | |
| 17 | g.18145992G>A | CA398606805 | MYO15A | c.6394G>A (p.Ala2132Thr) c.6334G>A (p.Ala2112Thr) c.6388G>A (p.Ala2130Thr) n.6993G>A c.6397G>A (p.Ala2133Thr) c.6213+1400G>A (n.6213+1400G>A) | |
| 17 | g.18145992G>C | CA398606803 | MYO15A | c.6394G>C (p.Ala2132Pro) c.6334G>C (p.Ala2112Pro) c.6388G>C (p.Ala2130Pro) n.6993G>C c.6397G>C (p.Ala2133Pro) c.6213+1400G>C (n.6213+1400G>C) | |
| 17 | g.18145992G>T | CA398606801 | MYO15A | c.6394G>T (p.Ala2132Ser) c.6334G>T (p.Ala2112Ser) c.6388G>T (p.Ala2130Ser) n.6993G>T c.6397G>T (p.Ala2133Ser) c.6213+1400G>T (n.6213+1400G>T) | |
| 17 | g.18145993C>A | CA398606806 | MYO15A | c.6395C>A (p.Ala2132Asp) c.6335C>A (p.Ala2112Asp) c.6389C>A (p.Ala2130Asp) n.6994C>A c.6398C>A (p.Ala2133Asp) c.6213+1401C>A (n.6213+1401C>A) | |
| 17 | g.18145993C>G | CA398606807 | MYO15A | c.6395C>G (p.Ala2132Gly) c.6335C>G (p.Ala2112Gly) c.6389C>G (p.Ala2130Gly) n.6994C>G c.6398C>G (p.Ala2133Gly) c.6213+1401C>G (n.6213+1401C>G) | |
| 17 | g.18145993C>T | CA398606809 | MYO15A | c.6395C>T (p.Ala2132Val) c.6335C>T (p.Ala2112Val) c.6389C>T (p.Ala2130Val) n.6994C>T c.6398C>T (p.Ala2133Val) c.6213+1401C>T (n.6213+1401C>T) | |
| 17 | g.18145994C>A | CA498430498 | MYO15A | c.6396C>A (p.Ala2132=) c.6336C>A (p.Ala2112=) c.6390C>A (p.Ala2130=) n.6995C>A c.6399C>A (p.Ala2133=) c.6213+1402C>A (n.6213+1402C>A) | |
| 17 | g.18145994C>G | CA498430499 | MYO15A | c.6396C>G (p.Ala2132=) c.6336C>G (p.Ala2112=) c.6390C>G (p.Ala2130=) n.6995C>G c.6399C>G (p.Ala2133=) c.6213+1402C>G (n.6213+1402C>G) | |
| 17 | g.18145994C>T | CA498430497 | MYO15A | c.6396C>T (p.Ala2132=) c.6336C>T (p.Ala2112=) c.6390C>T (p.Ala2130=) n.6995C>T c.6399C>T (p.Ala2133=) c.6213+1402C>T (n.6213+1402C>T) | dbSNP |
| 17 | g.18145995A= | CA2250850344 | MYO15A | c.6397A= (p.Asn2133=) c.6337A= (p.Asn2113=) c.6391A= (p.Asn2131=) n.6996A= c.6400A= (p.Asn2134=) c.6213+1403A= (n.6213+1403A=) | |
| 17 | g.18145995A>C | CA398606811 | MYO15A | c.6397A>C (p.Asn2133His) c.6337A>C (p.Asn2113His) c.6391A>C (p.Asn2131His) n.6996A>C c.6400A>C (p.Asn2134His) c.6213+1403A>C (n.6213+1403A>C) | |
| 17 | g.18145995A>G | CA8424584 | MYO15A | c.6397A>G (p.Asn2133Asp) c.6337A>G (p.Asn2113Asp) c.6391A>G (p.Asn2131Asp) n.6996A>G c.6400A>G (p.Asn2134Asp) c.6213+1403A>G (n.6213+1403A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.18145995A>T | CA398606814 | MYO15A | c.6397A>T (p.Asn2133Tyr) c.6337A>T (p.Asn2113Tyr) c.6391A>T (p.Asn2131Tyr) n.6996A>T c.6400A>T (p.Asn2134Tyr) c.6213+1403A>T (n.6213+1403A>T) | |
| 17 | g.18145996A= | CA2250850345 | MYO15A | c.6398A= (p.Asn2133=) c.6338A= (p.Asn2113=) c.6392A= (p.Asn2131=) n.6997A= c.6401A= (p.Asn2134=) c.6213+1404A= (n.6213+1404A=) | |
| 17 | g.18145996A>C | CA398606819 | MYO15A | c.6398A>C (p.Asn2133Thr) c.6338A>C (p.Asn2113Thr) c.6392A>C (p.Asn2131Thr) n.6997A>C c.6401A>C (p.Asn2134Thr) c.6213+1404A>C (n.6213+1404A>C) | |
| 17 | g.18145996A>G | CA8424585 | MYO15A | c.6398A>G (p.Asn2133Ser) c.6338A>G (p.Asn2113Ser) c.6392A>G (p.Asn2131Ser) n.6997A>G c.6401A>G (p.Asn2134Ser) c.6213+1404A>G (n.6213+1404A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.18145996A>T | CA398606817 | MYO15A | c.6398A>T (p.Asn2133Ile) c.6338A>T (p.Asn2113Ile) c.6392A>T (p.Asn2131Ile) n.6997A>T c.6401A>T (p.Asn2134Ile) c.6213+1404A>T (n.6213+1404A>T) | |
| 17 | g.18145997T>A | CA398606821 | MYO15A | c.6399T>A (p.Asn2133Lys) c.6339T>A (p.Asn2113Lys) c.6393T>A (p.Asn2131Lys) n.6998T>A c.6402T>A (p.Asn2134Lys) c.6213+1405T>A (n.6213+1405T>A) | |
| 17 | g.18145997T>C | CA498430500 | MYO15A | c.6399T>C (p.Asn2133=) c.6339T>C (p.Asn2113=) c.6393T>C (p.Asn2131=) n.6998T>C c.6402T>C (p.Asn2134=) c.6213+1405T>C (n.6213+1405T>C) | |
| 17 | g.18145997T>G | CA398606822 | MYO15A | c.6399T>G (p.Asn2133Lys) c.6339T>G (p.Asn2113Lys) c.6393T>G (p.Asn2131Lys) n.6998T>G c.6402T>G (p.Asn2134Lys) c.6213+1405T>G (n.6213+1405T>G) | |
| 17 | g.18145998C>A | CA398606824 | MYO15A | c.6400C>A (p.Gln2134Lys) c.6340C>A (p.Gln2114Lys) c.6394C>A (p.Gln2132Lys) n.6999C>A c.6403C>A (p.Gln2135Lys) c.6213+1406C>A (n.6213+1406C>A) | |
| 17 | g.18145998C>G | CA398606826 | MYO15A | c.6400C>G (p.Gln2134Glu) c.6340C>G (p.Gln2114Glu) c.6394C>G (p.Gln2132Glu) n.6999C>G c.6403C>G (p.Gln2135Glu) c.6213+1406C>G (n.6213+1406C>G) | |
| 17 | g.18145998C>T | CA398606827 | MYO15A | c.6400C>T (p.Gln2134Ter) c.6340C>T (p.Gln2114Ter) c.6394C>T (p.Gln2132Ter) n.6999C>T c.6403C>T (p.Gln2135Ter) c.6213+1406C>T (n.6213+1406C>T) | |
| 17 | g.18146011_18146012insACAGGTGTGGCACAA | CA2636448366 | MYO15A | c.6413_6414insACAGGTGTGGCACAA (p.His2137_Asn2138insLysGlnValTrpHis) c.6353_6354insACAGGTGTGGCACAA (p.His2117_Asn2118insLysGlnValTrpHis) c.6342+11_6342+12insACAGGTGTGGCACAA c.6407_6408insACAGGTGTGGCACAA (p.His2135_Asn2136insLysGlnValTrpHis) n.7012_7013insACAGGTGTGGCACAA c.6416_6417insACAGGTGTGGCACAA (p.His2138_Asn2139insLysGlnValTrpHis) c.6213+1419_6213+1420insACAGGTGTGGCACAA (n.6213+1419_6213+1420insACAGGTGTGGCACAA) | gnomAD v4 |
| 17 | g.18145999A>C | CA398606830 | MYO15A | c.6401A>C (p.Gln2134Pro) c.6341A>C (p.Gln2114Pro) c.6395A>C (p.Gln2132Pro) n.7000A>C c.6404A>C (p.Gln2135Pro) c.6213+1407A>C (n.6213+1407A>C) | |
| 17 | g.18145999A>G | CA398606833 | MYO15A | c.6401A>G (p.Gln2134Arg) c.6341A>G (p.Gln2114Arg) c.6395A>G (p.Gln2132Arg) n.7000A>G c.6404A>G (p.Gln2135Arg) c.6213+1407A>G (n.6213+1407A>G) | |
| 17 | g.18145999A>T | CA398606831 | MYO15A | c.6401A>T (p.Gln2134Leu) c.6341A>T (p.Gln2114Leu) c.6395A>T (p.Gln2132Leu) n.7000A>T c.6404A>T (p.Gln2135Leu) c.6213+1407A>T (n.6213+1407A>T) | |
| 17 | g.18146000G>A | CA498430501 | MYO15A | c.6402G>A (p.Gln2134=) c.6342G>A (p.Gln2114=) c.6396G>A (p.Gln2132=) n.7001G>A c.6405G>A (p.Gln2135=) c.6213+1408G>A (n.6213+1408G>A) | gnomAD v4 |
| 17 | g.18146000G>C | CA398606835 | MYO15A | c.6402G>C (p.Gln2134His) c.6342G>C (p.Gln2114His) c.6396G>C (p.Gln2132His) n.7001G>C c.6405G>C (p.Gln2135His) c.6213+1408G>C (n.6213+1408G>C) | |
| 17 | g.18146000G>T | CA398606837 | MYO15A | c.6402G>T (p.Gln2134His) c.6342G>T (p.Gln2114His) c.6396G>T (p.Gln2132His) n.7001G>T c.6405G>T (p.Gln2135His) c.6213+1408G>T (n.6213+1408G>T) | |
| 17 | g.18146001G>A | CA398606839 | MYO15A | c.6403G>A (p.Val2135Met) c.6343G>A (p.Val2115Met) c.6342+1G>A (n.6342+1G>A) c.6397G>A (p.Val2133Met) n.7002G>A c.6406G>A (p.Val2136Met) c.6213+1409G>A (n.6213+1409G>A) | gnomAD v4 |
| 17 | g.18146001G>C | CA8424586 | MYO15A | c.6403G>C (p.Val2135Leu) c.6343G>C (p.Val2115Leu) c.6342+1G>C (n.6342+1G>C) c.6397G>C (p.Val2133Leu) n.7002G>C c.6406G>C (p.Val2136Leu) c.6213+1409G>C (n.6213+1409G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.18146001G= | CA2250850346 | MYO15A | c.6403G= (p.Val2135=) c.6343G= (p.Val2115=) c.6342+1G= (n.6342+1G=) c.6397G= (p.Val2133=) n.7002G= c.6406G= (p.Val2136=) c.6213+1409G= (n.6213+1409G=) | |
| 17 | g.18146001G>T | CA249421 | MYO15A | c.6403G>T (p.Val2135Leu) c.6343G>T (p.Val2115Leu) c.6342+1G>T (n.6342+1G>T) c.6397G>T (p.Val2133Leu) n.7002G>T c.6406G>T (p.Val2136Leu) c.6213+1409G>T (n.6213+1409G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.18146002T>A | CA398606844 | MYO15A | c.6404T>A (p.Val2135Glu) c.6344T>A (p.Val2115Glu) c.6342+2T>A (n.6342+2T>A) c.6398T>A (p.Val2133Glu) n.7003T>A c.6407T>A (p.Val2136Glu) c.6213+1410T>A (n.6213+1410T>A) | |
| 17 | g.18146002T>C | CA398606846 | MYO15A | c.6404T>C (p.Val2135Ala) c.6344T>C (p.Val2115Ala) c.6342+2T>C (n.6342+2T>C) c.6398T>C (p.Val2133Ala) n.7003T>C c.6407T>C (p.Val2136Ala) c.6213+1410T>C (n.6213+1410T>C) | |
| 17 | g.18146002T>G | CA398606848 | MYO15A | c.6404T>G (p.Val2135Gly) c.6344T>G (p.Val2115Gly) c.6342+2T>G (n.6342+2T>G) c.6398T>G (p.Val2133Gly) n.7003T>G c.6407T>G (p.Val2136Gly) c.6213+1410T>G (n.6213+1410T>G) | dbSNP |
| 17 | g.18146002T= | CA2250850347 | MYO15A | c.6404T= (p.Val2135=) c.6344T= (p.Val2115=) c.6342+2T= (n.6342+2T=) c.6398T= (p.Val2133=) n.7003T= c.6407T= (p.Val2136=) c.6213+1410T= (n.6213+1410T=) | |
| 17 | g.18146003G>A | CA498430502 | MYO15A | c.6405G>A (p.Val2135=) c.6345G>A (p.Val2115=) c.6342+3G>A (n.6342+3G>A) c.6399G>A (p.Val2133=) n.7004G>A c.6408G>A (p.Val2136=) c.6213+1411G>A (n.6213+1411G>A) | gnomAD v4 |
| 17 | g.18146003G>C | CA498430503 | MYO15A | c.6405G>C (p.Val2135=) c.6345G>C (p.Val2115=) c.6342+3G>C (n.6342+3G>C) c.6399G>C (p.Val2133=) n.7004G>C c.6408G>C (p.Val2136=) c.6213+1411G>C (n.6213+1411G>C) | |
| 17 | g.18146003G>T | CA498430504 | MYO15A | c.6405G>T (p.Val2135=) c.6345G>T (p.Val2115=) c.6342+3G>T (n.6342+3G>T) c.6399G>T (p.Val2133=) n.7004G>T c.6408G>T (p.Val2136=) c.6213+1411G>T (n.6213+1411G>T) | |
| 17 | g.18146004T>A | CA398606850 | MYO15A | c.6406T>A (p.Trp2136Arg) c.6346T>A (p.Trp2116Arg) c.6342+4T>A (n.6342+4T>A) c.6400T>A (p.Trp2134Arg) n.7005T>A c.6409T>A (p.Trp2137Arg) c.6213+1412T>A (n.6213+1412T>A) | |
| 17 | g.18146004T>C | CA398606852 | MYO15A | c.6406T>C (p.Trp2136Arg) c.6346T>C (p.Trp2116Arg) c.6342+4T>C (n.6342+4T>C) c.6400T>C (p.Trp2134Arg) n.7005T>C c.6409T>C (p.Trp2137Arg) c.6213+1412T>C (n.6213+1412T>C) | |
| 17 | g.18146004T>G | CA398606853 | MYO15A | c.6406T>G (p.Trp2136Gly) c.6346T>G (p.Trp2116Gly) c.6342+4T>G (n.6342+4T>G) c.6400T>G (p.Trp2134Gly) n.7005T>G c.6409T>G (p.Trp2137Gly) c.6213+1412T>G (n.6213+1412T>G) | dbSNP |
| 17 | g.18146004T= | CA2250850348 | MYO15A | c.6406T= (p.Trp2136=) c.6346T= (p.Trp2116=) c.6342+4T= (n.6342+4T=) c.6400T= (p.Trp2134=) n.7005T= c.6409T= (p.Trp2137=) c.6213+1412T= (n.6213+1412T=) | |
| 17 | g.18146005G>A | CA398606856 | MYO15A | c.6407G>A (p.Trp2136Ter) c.6347G>A (p.Trp2116Ter) c.6342+5G>A (n.6342+5G>A) c.6401G>A (p.Trp2134Ter) n.7006G>A c.6410G>A (p.Trp2137Ter) c.6213+1413G>A (n.6213+1413G>A) | |
| 17 | g.18146005G>C | CA398606858 | MYO15A | c.6407G>C (p.Trp2136Ser) c.6347G>C (p.Trp2116Ser) c.6342+5G>C (n.6342+5G>C) c.6401G>C (p.Trp2134Ser) n.7006G>C c.6410G>C (p.Trp2137Ser) c.6213+1413G>C (n.6213+1413G>C) | |
| 17 | g.18146005G>T | CA398606855 | MYO15A | c.6407G>T (p.Trp2136Leu) c.6347G>T (p.Trp2116Leu) c.6342+5G>T (n.6342+5G>T) c.6401G>T (p.Trp2134Leu) n.7006G>T c.6410G>T (p.Trp2137Leu) c.6213+1413G>T (n.6213+1413G>T) | |
| 17 | g.18146006G>A | CA398606862 | MYO15A | c.6408G>A (p.Trp2136Ter) c.6348G>A (p.Trp2116Ter) c.6342+6G>A (n.6342+6G>A) c.6402G>A (p.Trp2134Ter) n.7007G>A c.6411G>A (p.Trp2137Ter) c.6213+1414G>A (n.6213+1414G>A) | COSMIC |
| 17 | g.18146006G>C | CA398606860 | MYO15A | c.6408G>C (p.Trp2136Cys) c.6348G>C (p.Trp2116Cys) c.6342+6G>C (n.6342+6G>C) c.6402G>C (p.Trp2134Cys) n.7007G>C c.6411G>C (p.Trp2137Cys) c.6213+1414G>C (n.6213+1414G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.18146006G= | CA2250850349 | MYO15A | c.6408G= (p.Trp2136=) c.6348G= (p.Trp2116=) c.6342+6G= (n.6342+6G=) c.6402G= (p.Trp2134=) n.7007G= c.6411G= (p.Trp2137=) c.6213+1414G= (n.6213+1414G=) | |
| 17 | g.18146006G>T | CA398606864 | MYO15A | c.6408G>T (p.Trp2136Cys) c.6348G>T (p.Trp2116Cys) c.6342+6G>T (n.6342+6G>T) c.6402G>T (p.Trp2134Cys) n.7007G>T c.6411G>T (p.Trp2137Cys) c.6213+1414G>T (n.6213+1414G>T) | |
| 17 | g.18146007C>A | CA398606865 | MYO15A | c.6409C>A (p.His2137Asn) c.6349C>A (p.His2117Asn) c.6342+7C>A (n.6342+7C>A) c.6403C>A (p.His2135Asn) n.7008C>A c.6412C>A (p.His2138Asn) c.6213+1415C>A (n.6213+1415C>A) | |
| 17 | g.18146007C>G | CA398606867 | MYO15A | c.6409C>G (p.His2137Asp) c.6349C>G (p.His2117Asp) c.6342+7C>G (n.6342+7C>G) c.6403C>G (p.His2135Asp) n.7008C>G c.6412C>G (p.His2138Asp) c.6213+1415C>G (n.6213+1415C>G) | |
| 17 | g.18146007C>T | CA398606870 | MYO15A | c.6409C>T (p.His2137Tyr) c.6349C>T (p.His2117Tyr) c.6342+7C>T (n.6342+7C>T) c.6403C>T (p.His2135Tyr) n.7008C>T c.6412C>T (p.His2138Tyr) c.6213+1415C>T (n.6213+1415C>T) | |
| 17 | g.18146008A>C | CA398606874 | MYO15A | c.6410A>C (p.His2137Pro) c.6350A>C (p.His2117Pro) c.6342+8A>C (n.6342+8A>C) c.6404A>C (p.His2135Pro) n.7009A>C c.6413A>C (p.His2138Pro) c.6213+1416A>C (n.6213+1416A>C) | |
| 17 | g.18146008A>G | CA398606877 | MYO15A | c.6410A>G (p.His2137Arg) c.6350A>G (p.His2117Arg) c.6342+8A>G (n.6342+8A>G) c.6404A>G (p.His2135Arg) n.7009A>G c.6413A>G (p.His2138Arg) c.6213+1416A>G (n.6213+1416A>G) | |
| 17 | g.18146008A>T | CA398606879 | MYO15A | c.6410A>T (p.His2137Leu) c.6350A>T (p.His2117Leu) c.6342+8A>T (n.6342+8A>T) c.6404A>T (p.His2135Leu) n.7009A>T c.6413A>T (p.His2138Leu) c.6213+1416A>T (n.6213+1416A>T) |