Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
17 | g.18146009C>A | CA398606881 | MYO15A | c.6411C>A (p.His2137Gln) c.6351C>A (p.His2117Gln) c.6342+9C>A (n.6342+9C>A) c.6405C>A (p.His2135Gln) n.7010C>A c.6414C>A (p.His2138Gln) c.6213+1417C>A (n.6213+1417C>A) | gnomAD v4 |
17 | g.18146009C>G | CA398606884 | MYO15A | c.6411C>G (p.His2137Gln) c.6351C>G (p.His2117Gln) c.6342+9C>G (n.6342+9C>G) c.6405C>G (p.His2135Gln) n.7010C>G c.6414C>G (p.His2138Gln) c.6213+1417C>G (n.6213+1417C>G) | |
17 | g.18146009C>T | CA498430505 | MYO15A | c.6411C>T (p.His2137=) c.6351C>T (p.His2117=) c.6342+9C>T (n.6342+9C>T) c.6405C>T (p.His2135=) n.7010C>T c.6414C>T (p.His2138=) c.6213+1417C>T (n.6213+1417C>T) | |
17 | g.18146010A= | CA2250850350 | MYO15A | c.6412A= (p.Asn2138=) c.6352A= (p.Asn2118=) c.6342+10A= (n.6342+10A=) c.6406A= (p.Asn2136=) n.7011A= c.6415A= (p.Asn2139=) c.6213+1418A= (n.6213+1418A=) | |
17 | g.18146010A>C | CA398606887 | MYO15A | c.6412A>C (p.Asn2138His) c.6352A>C (p.Asn2118His) c.6342+10A>C (n.6342+10A>C) c.6406A>C (p.Asn2136His) n.7011A>C c.6415A>C (p.Asn2139His) c.6213+1418A>C (n.6213+1418A>C) | |
17 | g.18146010A>G | CA398606889 | MYO15A | c.6412A>G (p.Asn2138Asp) c.6352A>G (p.Asn2118Asp) c.6342+10A>G (n.6342+10A>G) c.6406A>G (p.Asn2136Asp) n.7011A>G c.6415A>G (p.Asn2139Asp) c.6213+1418A>G (n.6213+1418A>G) | dbSNP |
17 | g.18146010A>T | CA398606893 | MYO15A | c.6412A>T (p.Asn2138Tyr) c.6352A>T (p.Asn2118Tyr) c.6342+10A>T (n.6342+10A>T) c.6406A>T (p.Asn2136Tyr) n.7011A>T c.6415A>T (p.Asn2139Tyr) c.6213+1418A>T (n.6213+1418A>T) | |
17 | g.18146011A= | CA2250850351 | MYO15A | c.6413A= (p.Asn2138=) c.6353A= (p.Asn2118=) c.6342+11A= (n.6342+11A=) c.6407A= (p.Asn2136=) n.7012A= c.6416A= (p.Asn2139=) c.6213+1419A= (n.6213+1419A=) | |
17 | g.18146011A>C | CA398606899 | MYO15A | c.6413A>C (p.Asn2138Thr) c.6353A>C (p.Asn2118Thr) c.6342+11A>C (n.6342+11A>C) c.6407A>C (p.Asn2136Thr) n.7012A>C c.6416A>C (p.Asn2139Thr) c.6213+1419A>C (n.6213+1419A>C) | |
17 | g.18146011A>G | CA288407471 | MYO15A | c.6413A>G (p.Asn2138Ser) c.6353A>G (p.Asn2118Ser) c.6342+11A>G (n.6342+11A>G) c.6407A>G (p.Asn2136Ser) n.7012A>G c.6416A>G (p.Asn2139Ser) c.6213+1419A>G (n.6213+1419A>G) | dbSNP gnomAD v4 |
17 | g.18146011A>T | CA398606895 | MYO15A | c.6413A>T (p.Asn2138Ile) c.6353A>T (p.Asn2118Ile) c.6342+11A>T (n.6342+11A>T) c.6407A>T (p.Asn2136Ile) n.7012A>T c.6416A>T (p.Asn2139Ile) c.6213+1419A>T (n.6213+1419A>T) | |
17 | g.18146012T>A | CA398606902 | MYO15A | c.6414T>A (p.Asn2138Lys) c.6354T>A (p.Asn2118Lys) c.6342+12T>A (n.6342+12T>A) c.6408T>A (p.Asn2136Lys) n.7013T>A c.6417T>A (p.Asn2139Lys) c.6213+1420T>A (n.6213+1420T>A) | |
17 | g.18146012T>C | CA498430506 | MYO15A | c.6414T>C (p.Asn2138=) c.6354T>C (p.Asn2118=) c.6342+12T>C (n.6342+12T>C) c.6408T>C (p.Asn2136=) n.7013T>C c.6417T>C (p.Asn2139=) c.6213+1420T>C (n.6213+1420T>C) | |
17 | g.18146012T>G | CA398606906 | MYO15A | c.6414T>G (p.Asn2138Lys) c.6354T>G (p.Asn2118Lys) c.6342+12T>G (n.6342+12T>G) c.6408T>G (p.Asn2136Lys) n.7013T>G c.6417T>G (p.Asn2139Lys) c.6213+1420T>G (n.6213+1420T>G) | |
17 | g.18146013C>A | CA398606910 | MYO15A | c.6415C>A (p.His2139Asn) c.6355C>A (p.His2119Asn) c.6342+13C>A (n.6342+13C>A) c.6409C>A (p.His2137Asn) n.7014C>A c.6418C>A (p.His2140Asn) c.6213+1421C>A (n.6213+1421C>A) | |
17 | g.18146013C>G | CA398606912 | MYO15A | c.6415C>G (p.His2139Asp) c.6355C>G (p.His2119Asp) c.6342+13C>G (n.6342+13C>G) c.6409C>G (p.His2137Asp) n.7014C>G c.6418C>G (p.His2140Asp) c.6213+1421C>G (n.6213+1421C>G) | |
17 | g.18146013C>T | CA398606917 | MYO15A | c.6415C>T (p.His2139Tyr) c.6355C>T (p.His2119Tyr) c.6342+13C>T (n.6342+13C>T) c.6409C>T (p.His2137Tyr) n.7014C>T c.6418C>T (p.His2140Tyr) c.6213+1421C>T (n.6213+1421C>T) | |
17 | g.18146014A>C | CA398606921 | MYO15A | c.6416A>C (p.His2139Pro) n.1A>C c.6356A>C (p.His2119Pro) c.6342+14A>C (n.6342+14A>C) c.6410A>C (p.His2137Pro) n.7015A>C c.6419A>C (p.His2140Pro) c.6213+1422A>C (n.6213+1422A>C) | |
17 | g.18146014A>G | CA398606924 | MYO15A | c.6416A>G (p.His2139Arg) n.1A>G c.6356A>G (p.His2119Arg) c.6342+14A>G (n.6342+14A>G) c.6410A>G (p.His2137Arg) n.7015A>G c.6419A>G (p.His2140Arg) c.6213+1422A>G (n.6213+1422A>G) | |
17 | g.18146014A>T | CA398606925 | MYO15A | c.6416A>T (p.His2139Leu) n.1A>T c.6356A>T (p.His2119Leu) c.6342+14A>T (n.6342+14A>T) c.6410A>T (p.His2137Leu) n.7015A>T c.6419A>T (p.His2140Leu) c.6213+1422A>T (n.6213+1422A>T) | |
17 | g.18146015C>A | CA398606929 | MYO15A | c.6417C>A (p.His2139Gln) n.2C>A c.6357C>A (p.His2119Gln) c.6342+15C>A (n.6342+15C>A) c.6411C>A (p.His2137Gln) n.7016C>A c.6420C>A (p.His2140Gln) c.6213+1423C>A (n.6213+1423C>A) | COSMIC |
17 | g.18146015C>G | CA398606933 | MYO15A | c.6417C>G (p.His2139Gln) n.2C>G c.6357C>G (p.His2119Gln) c.6342+15C>G (n.6342+15C>G) c.6411C>G (p.His2137Gln) n.7016C>G c.6420C>G (p.His2140Gln) c.6213+1423C>G (n.6213+1423C>G) | |
17 | g.18146015C>T | CA498430507 | MYO15A | c.6417C>T (p.His2139=) n.2C>T c.6357C>T (p.His2119=) c.6342+15C>T (n.6342+15C>T) c.6411C>T (p.His2137=) n.7016C>T c.6420C>T (p.His2140=) c.6213+1423C>T (n.6213+1423C>T) | |
17 | g.18146016A>C | CA398606935 | MYO15A | c.6418A>C (p.Asn2140His) n.3A>C c.6358A>C (p.Asn2120His) c.6342+16A>C (n.6342+16A>C) c.6412A>C (p.Asn2138His) n.7017A>C c.6421A>C (p.Asn2141His) c.6213+1424A>C (n.6213+1424A>C) | |
17 | g.18146016A>G | CA398606940 | MYO15A | c.6418A>G (p.Asn2140Asp) n.3A>G c.6358A>G (p.Asn2120Asp) c.6342+16A>G (n.6342+16A>G) c.6412A>G (p.Asn2138Asp) n.7017A>G c.6421A>G (p.Asn2141Asp) c.6213+1424A>G (n.6213+1424A>G) | |
17 | g.18146016A>T | CA398606943 | MYO15A | c.6418A>T (p.Asn2140Tyr) n.3A>T c.6358A>T (p.Asn2120Tyr) c.6342+16A>T (n.6342+16A>T) c.6412A>T (p.Asn2138Tyr) n.7017A>T c.6421A>T (p.Asn2141Tyr) c.6213+1424A>T (n.6213+1424A>T) | |
17 | g.18146017A>C | CA398606954 | MYO15A | c.6419A>C (p.Asn2140Thr) n.4A>C c.6359A>C (p.Asn2120Thr) c.6342+17A>C (n.6342+17A>C) c.6413A>C (p.Asn2138Thr) n.7018A>C c.6422A>C (p.Asn2141Thr) c.6213+1425A>C (n.6213+1425A>C) | |
17 | g.18146017A>G | CA398606952 | MYO15A | c.6419A>G (p.Asn2140Ser) n.4A>G c.6359A>G (p.Asn2120Ser) c.6342+17A>G (n.6342+17A>G) c.6413A>G (p.Asn2138Ser) n.7018A>G c.6422A>G (p.Asn2141Ser) c.6213+1425A>G (n.6213+1425A>G) | |
17 | g.18146017A>T | CA398606948 | MYO15A | c.6419A>T (p.Asn2140Ile) n.4A>T c.6359A>T (p.Asn2120Ile) c.6342+17A>T (n.6342+17A>T) c.6413A>T (p.Asn2138Ile) n.7018A>T c.6422A>T (p.Asn2141Ile) c.6213+1425A>T (n.6213+1425A>T) | |
17 | g.18146018T>A | CA398606961 | MYO15A | c.6420T>A (p.Asn2140Lys) n.5T>A c.6360T>A (p.Asn2120Lys) c.6342+18T>A (n.6342+18T>A) c.6414T>A (p.Asn2138Lys) n.7019T>A c.6423T>A (p.Asn2141Lys) c.6213+1426T>A (n.6213+1426T>A) | dbSNP gnomAD v4 |
17 | g.18146018T>C | CA498430508 | MYO15A | c.6420T>C (p.Asn2140=) n.5T>C c.6360T>C (p.Asn2120=) c.6342+18T>C (n.6342+18T>C) c.6414T>C (p.Asn2138=) n.7019T>C c.6423T>C (p.Asn2141=) c.6213+1426T>C (n.6213+1426T>C) | |
17 | g.18146018T>G | CA398606958 | MYO15A | c.6420T>G (p.Asn2140Lys) n.5T>G c.6360T>G (p.Asn2120Lys) c.6342+18T>G (n.6342+18T>G) c.6414T>G (p.Asn2138Lys) n.7019T>G c.6423T>G (p.Asn2141Lys) c.6213+1426T>G (n.6213+1426T>G) | |
17 | g.18146018T= | CA2250850352 | MYO15A | c.6420T= (p.Asn2140=) n.5T= c.6360T= (p.Asn2120=) c.6342+18T= (n.6342+18T=) c.6414T= (p.Asn2138=) n.7019T= c.6423T= (p.Asn2141=) c.6213+1426T= (n.6213+1426T=) | |
17 | g.18146019G>A | CA398606963 | MYO15A | c.6421G>A (p.Ala2141Thr) n.6G>A c.6361G>A (p.Ala2121Thr) c.6342+19G>A (n.6342+19G>A) c.6415G>A (p.Ala2139Thr) n.7020G>A c.6424G>A (p.Ala2142Thr) c.6213+1427G>A (n.6213+1427G>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.18146019G>C | CA398606966 | MYO15A | c.6421G>C (p.Ala2141Pro) n.6G>C c.6361G>C (p.Ala2121Pro) c.6342+19G>C (n.6342+19G>C) c.6415G>C (p.Ala2139Pro) n.7020G>C c.6424G>C (p.Ala2142Pro) c.6213+1427G>C (n.6213+1427G>C) | |
17 | g.18146019G= | CA2250850353 | MYO15A | c.6421G= (p.Ala2141=) n.6G= c.6361G= (p.Ala2121=) c.6342+19G= (n.6342+19G=) c.6415G= (p.Ala2139=) n.7020G= c.6424G= (p.Ala2142=) c.6213+1427G= (n.6213+1427G=) | |
17 | g.18146019G>T | CA398606969 | MYO15A | c.6421G>T (p.Ala2141Ser) n.6G>T c.6361G>T (p.Ala2121Ser) c.6342+19G>T (n.6342+19G>T) c.6415G>T (p.Ala2139Ser) n.7020G>T c.6424G>T (p.Ala2142Ser) c.6213+1427G>T (n.6213+1427G>T) | |
17 | g.18146019_18146021delinsCACAAT | CA645597342 | MYO15A | c.6421_6423delinsCACAAT (p.Ala2141delinsHisAsn) n.6_8delinsCACAAT c.6361_6363delinsCACAAT (p.Ala2121delinsHisAsn) c.6342+19_6342+21delinsCACAAT (n.6342+19_6342+21delinsCACAAT) c.6415_6417delinsCACAAT (p.Ala2139delinsHisAsn) n.7020_7022delinsCACAAT c.6424_6426delinsCACAAT (p.Ala2142delinsHisAsn) c.6213+1427_6213+1429delinsCACAAT (n.6213+1427_6213+1429delinsCACAAT) | COSMIC |
17 | g.18146020C>A | CA398606973 | MYO15A | c.6422C>A (p.Ala2141Asp) n.7C>A c.6362C>A (p.Ala2121Asp) c.6342+20C>A (n.6342+20C>A) c.6416C>A (p.Ala2139Asp) n.7021C>A c.6425C>A (p.Ala2142Asp) c.6213+1428C>A (n.6213+1428C>A) | |
17 | g.18146020C= | CA2250850354 | MYO15A | c.6422C= (p.Ala2141=) n.7C= c.6362C= (p.Ala2121=) c.6342+20C= (n.6342+20C=) c.6416C= (p.Ala2139=) n.7021C= c.6425C= (p.Ala2142=) c.6213+1428C= (n.6213+1428C=) | |
17 | g.18146020C>G | CA398606976 | MYO15A | c.6422C>G (p.Ala2141Gly) n.7C>G c.6362C>G (p.Ala2121Gly) c.6342+20C>G (n.6342+20C>G) c.6416C>G (p.Ala2139Gly) n.7021C>G c.6425C>G (p.Ala2142Gly) c.6213+1428C>G (n.6213+1428C>G) | gnomAD v4 |
17 | g.18146020C>T | CA398606980 | MYO15A | c.6422C>T (p.Ala2141Val) n.7C>T c.6362C>T (p.Ala2121Val) c.6342+20C>T (n.6342+20C>T) c.6416C>T (p.Ala2139Val) n.7021C>T c.6425C>T (p.Ala2142Val) c.6213+1428C>T (n.6213+1428C>T) | dbSNP |
17 | g.18146021C>A | CA498430509 | MYO15A | c.6423C>A (p.Ala2141=) n.8C>A c.6363C>A (p.Ala2121=) c.6342+21C>A (n.6342+21C>A) c.6417C>A (p.Ala2139=) n.7022C>A c.6426C>A (p.Ala2142=) c.6213+1429C>A (n.6213+1429C>A) | |
17 | g.18146021C>G | CA498430510 | MYO15A | c.6423C>G (p.Ala2141=) n.8C>G c.6363C>G (p.Ala2121=) c.6342+21C>G (n.6342+21C>G) c.6417C>G (p.Ala2139=) n.7022C>G c.6426C>G (p.Ala2142=) c.6213+1429C>G (n.6213+1429C>G) | |
17 | g.18146021C>T | CA498430511 | MYO15A | c.6423C>T (p.Ala2141=) n.8C>T c.6363C>T (p.Ala2121=) c.6342+21C>T (n.6342+21C>T) c.6417C>T (p.Ala2139=) n.7022C>T c.6426C>T (p.Ala2142=) c.6213+1429C>T (n.6213+1429C>T) | |
17 | g.18146022C>A | CA398606984 | MYO15A | c.6424C>A (p.His2142Asn) n.9C>A c.6364C>A (p.His2122Asn) c.6342+22C>A (n.6342+22C>A) c.6418C>A (p.His2140Asn) n.7023C>A c.6427C>A (p.His2143Asn) c.6213+1430C>A (n.6213+1430C>A) | |
17 | g.18146022C>G | CA398606987 | MYO15A | c.6424C>G (p.His2142Asp) n.9C>G c.6364C>G (p.His2122Asp) c.6342+22C>G (n.6342+22C>G) c.6418C>G (p.His2140Asp) n.7023C>G c.6427C>G (p.His2143Asp) c.6213+1430C>G (n.6213+1430C>G) | |
17 | g.18146022C>T | CA398606989 | MYO15A | c.6424C>T (p.His2142Tyr) n.9C>T c.6364C>T (p.His2122Tyr) c.6342+22C>T (n.6342+22C>T) c.6418C>T (p.His2140Tyr) n.7023C>T c.6427C>T (p.His2143Tyr) c.6213+1430C>T (n.6213+1430C>T) | |
17 | g.18146023A>C | CA398606992 | MYO15A | c.6425A>C (p.His2142Pro) n.10A>C c.6365A>C (p.His2122Pro) c.6342+23A>C (n.6342+23A>C) c.6419A>C (p.His2140Pro) n.7024A>C c.6428A>C (p.His2143Pro) c.6213+1431A>C (n.6213+1431A>C) | |
17 | g.18146023A>G | CA398606995 | MYO15A | c.6425A>G (p.His2142Arg) n.10A>G c.6365A>G (p.His2122Arg) c.6342+23A>G (n.6342+23A>G) c.6419A>G (p.His2140Arg) n.7024A>G c.6428A>G (p.His2143Arg) c.6213+1431A>G (n.6213+1431A>G) | |
17 | g.18146023A>T | CA398606998 | MYO15A | c.6425A>T (p.His2142Leu) n.10A>T c.6365A>T (p.His2122Leu) c.6342+23A>T (n.6342+23A>T) c.6419A>T (p.His2140Leu) n.7024A>T c.6428A>T (p.His2143Leu) c.6213+1431A>T (n.6213+1431A>T) | |
17 | g.18146024C>A | CA398607005 | MYO15A | c.6426C>A (p.His2142Gln) n.11C>A c.6366C>A (p.His2122Gln) c.6342+24C>A (n.6342+24C>A) c.6420C>A (p.His2140Gln) n.7025C>A c.6429C>A (p.His2143Gln) c.6213+1432C>A (n.6213+1432C>A) | |
17 | g.18146024C>G | CA398607002 | MYO15A | c.6426C>G (p.His2142Gln) n.11C>G c.6366C>G (p.His2122Gln) c.6342+24C>G (n.6342+24C>G) c.6420C>G (p.His2140Gln) n.7025C>G c.6429C>G (p.His2143Gln) c.6213+1432C>G (n.6213+1432C>G) | |
17 | g.18146024C>T | CA498430512 | MYO15A | c.6426C>T (p.His2142=) n.11C>T c.6366C>T (p.His2122=) c.6342+24C>T (n.6342+24C>T) c.6420C>T (p.His2140=) n.7025C>T c.6429C>T (p.His2143=) c.6213+1432C>T (n.6213+1432C>T) | |
17 | g.18146025A>C | CA398607007 | MYO15A | c.6427A>C (p.Asn2143His) n.12A>C c.6367A>C (p.Asn2123His) c.6342+25A>C (n.6342+25A>C) c.6421A>C (p.Asn2141His) n.7026A>C c.6430A>C (p.Asn2144His) c.6213+1433A>C (n.6213+1433A>C) | |
17 | g.18146025A>G | CA398607010 | MYO15A | c.6427A>G (p.Asn2143Asp) n.12A>G c.6367A>G (p.Asn2123Asp) c.6342+25A>G (n.6342+25A>G) c.6421A>G (p.Asn2141Asp) n.7026A>G c.6430A>G (p.Asn2144Asp) c.6213+1433A>G (n.6213+1433A>G) | gnomAD v4 |
17 | g.18146025A>T | CA398607012 | MYO15A | c.6427A>T (p.Asn2143Tyr) n.12A>T c.6367A>T (p.Asn2123Tyr) c.6342+25A>T (n.6342+25A>T) c.6421A>T (p.Asn2141Tyr) n.7026A>T c.6430A>T (p.Asn2144Tyr) c.6213+1433A>T (n.6213+1433A>T) | |
17 | g.18146026A= | CA2250850355 | MYO15A | c.6428A= (p.Asn2143=) n.13A= c.6368A= (p.Asn2123=) c.6342+26A= (n.6342+26A=) c.6422A= (p.Asn2141=) n.7027A= c.6431A= (p.Asn2144=) c.6213+1434A= (n.6213+1434A=) | |
17 | g.18146026A>C | CA398607017 | MYO15A | c.6428A>C (p.Asn2143Thr) n.13A>C c.6368A>C (p.Asn2123Thr) c.6342+26A>C (n.6342+26A>C) c.6422A>C (p.Asn2141Thr) n.7027A>C c.6431A>C (p.Asn2144Thr) c.6213+1434A>C (n.6213+1434A>C) | |
17 | g.18146026A>G | CA398607020 | MYO15A | c.6428A>G (p.Asn2143Ser) n.13A>G c.6368A>G (p.Asn2123Ser) c.6342+26A>G (n.6342+26A>G) c.6422A>G (p.Asn2141Ser) n.7027A>G c.6431A>G (p.Asn2144Ser) c.6213+1434A>G (n.6213+1434A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.18146026A>T | CA398607023 | MYO15A | c.6428A>T (p.Asn2143Ile) n.13A>T c.6368A>T (p.Asn2123Ile) c.6342+26A>T (n.6342+26A>T) c.6422A>T (p.Asn2141Ile) n.7027A>T c.6431A>T (p.Asn2144Ile) c.6213+1434A>T (n.6213+1434A>T) | |
17 | g.18146027T>A | CA398607026 | MYO15A | c.6429T>A (p.Asn2143Lys) n.14T>A c.6369T>A (p.Asn2123Lys) c.6342+27T>A (n.6342+27T>A) c.6423T>A (p.Asn2141Lys) n.7028T>A c.6432T>A (p.Asn2144Lys) c.6213+1435T>A (n.6213+1435T>A) | |
17 | g.18146027T>C | CA498430513 | MYO15A | c.6429T>C (p.Asn2143=) n.14T>C c.6369T>C (p.Asn2123=) c.6342+27T>C (n.6342+27T>C) c.6423T>C (p.Asn2141=) n.7028T>C c.6432T>C (p.Asn2144=) c.6213+1435T>C (n.6213+1435T>C) | |
17 | g.18146027T>G | CA398607028 | MYO15A | c.6429T>G (p.Asn2143Lys) n.14T>G c.6369T>G (p.Asn2123Lys) c.6342+27T>G (n.6342+27T>G) c.6423T>G (p.Asn2141Lys) n.7028T>G c.6432T>G (p.Asn2144Lys) c.6213+1435T>G (n.6213+1435T>G) | |
17 | g.18146028G>A | CA398607030 | MYO15A | c.6430G>A (p.Ala2144Thr) n.15G>A c.6370G>A (p.Ala2124Thr) c.6342+28G>A (n.6342+28G>A) c.6424G>A (p.Ala2142Thr) n.7029G>A c.6433G>A (p.Ala2145Thr) c.6213+1436G>A (n.6213+1436G>A) | COSMIC |
17 | g.18146028G>C | CA398607034 | MYO15A | c.6430G>C (p.Ala2144Pro) n.15G>C c.6370G>C (p.Ala2124Pro) c.6342+28G>C (n.6342+28G>C) c.6424G>C (p.Ala2142Pro) n.7029G>C c.6433G>C (p.Ala2145Pro) c.6213+1436G>C (n.6213+1436G>C) | |
17 | g.18146028G>T | CA398607037 | MYO15A | c.6430G>T (p.Ala2144Ser) n.15G>T c.6370G>T (p.Ala2124Ser) c.6342+28G>T (n.6342+28G>T) c.6424G>T (p.Ala2142Ser) n.7029G>T c.6433G>T (p.Ala2145Ser) c.6213+1436G>T (n.6213+1436G>T) | |
17 | g.18146029C>A | CA398607040 | MYO15A | c.6431C>A (p.Ala2144Asp) n.16C>A c.6371C>A (p.Ala2124Asp) c.6342+29C>A (n.6342+29C>A) c.6425C>A (p.Ala2142Asp) n.7030C>A c.6434C>A (p.Ala2145Asp) c.6213+1437C>A (n.6213+1437C>A) | |
17 | g.18146029C>G | CA398607044 | MYO15A | c.6431C>G (p.Ala2144Gly) n.16C>G c.6371C>G (p.Ala2124Gly) c.6342+29C>G (n.6342+29C>G) c.6425C>G (p.Ala2142Gly) n.7030C>G c.6434C>G (p.Ala2145Gly) c.6213+1437C>G (n.6213+1437C>G) | |
17 | g.18146029C>T | CA398607046 | MYO15A | c.6431C>T (p.Ala2144Val) n.16C>T c.6371C>T (p.Ala2124Val) c.6342+29C>T (n.6342+29C>T) c.6425C>T (p.Ala2142Val) n.7030C>T c.6434C>T (p.Ala2145Val) c.6213+1437C>T (n.6213+1437C>T) | |
17 | g.18146030T>A | CA498430514 | MYO15A | c.6432T>A (p.Ala2144=) n.17T>A c.6372T>A (p.Ala2124=) c.6342+30T>A (n.6342+30T>A) c.6426T>A (p.Ala2142=) n.7031T>A c.6435T>A (p.Ala2145=) c.6213+1438T>A (n.6213+1438T>A) | |
17 | g.18146030T>C | CA498430515 | MYO15A | c.6432T>C (p.Ala2144=) n.17T>C c.6372T>C (p.Ala2124=) c.6342+30T>C (n.6342+30T>C) c.6426T>C (p.Ala2142=) n.7031T>C c.6435T>C (p.Ala2145=) c.6213+1438T>C (n.6213+1438T>C) | |
17 | g.18146030T>G | CA498430516 | MYO15A | c.6432T>G (p.Ala2144=) n.17T>G c.6372T>G (p.Ala2124=) c.6342+30T>G (n.6342+30T>G) c.6426T>G (p.Ala2142=) n.7031T>G c.6435T>G (p.Ala2145=) c.6213+1438T>G (n.6213+1438T>G) | |
17 | g.18146031G>A | CA398607053 | MYO15A | c.6433G>A (p.Glu2145Lys) n.18G>A c.6373G>A (p.Glu2125Lys) c.6342+31G>A (n.6342+31G>A) c.6427G>A (p.Glu2143Lys) n.7032G>A c.6436G>A (p.Glu2146Lys) c.6213+1439G>A (n.6213+1439G>A) | dbSNP gnomAD v4 |
17 | g.18146031G>C | CA398607056 | MYO15A | c.6433G>C (p.Glu2145Gln) n.18G>C c.6373G>C (p.Glu2125Gln) c.6342+31G>C (n.6342+31G>C) c.6427G>C (p.Glu2143Gln) n.7032G>C c.6436G>C (p.Glu2146Gln) c.6213+1439G>C (n.6213+1439G>C) | |
17 | g.18146031G= | CA2250850356 | MYO15A | c.6433G= (p.Glu2145=) n.18G= c.6373G= (p.Glu2125=) c.6342+31G= (n.6342+31G=) c.6427G= (p.Glu2143=) n.7032G= c.6436G= (p.Glu2146=) c.6213+1439G= (n.6213+1439G=) | |
17 | g.18146031G>T | CA398607052 | MYO15A | c.6433G>T (p.Glu2145Ter) n.18G>T c.6373G>T (p.Glu2125Ter) c.6342+31G>T (n.6342+31G>T) c.6427G>T (p.Glu2143Ter) n.7032G>T c.6436G>T (p.Glu2146Ter) c.6213+1439G>T (n.6213+1439G>T) | |
17 | g.18146032A>C | CA398607058 | MYO15A | c.6434A>C (p.Glu2145Ala) n.19A>C c.6374A>C (p.Glu2125Ala) c.6342+32A>C (n.6342+32A>C) c.6428A>C (p.Glu2143Ala) n.7033A>C c.6437A>C (p.Glu2146Ala) c.6213+1440A>C (n.6213+1440A>C) | |
17 | g.18146032A>G | CA398607064 | MYO15A | c.6434A>G (p.Glu2145Gly) n.19A>G c.6374A>G (p.Glu2125Gly) c.6342+32A>G (n.6342+32A>G) c.6428A>G (p.Glu2143Gly) n.7033A>G c.6437A>G (p.Glu2146Gly) c.6213+1440A>G (n.6213+1440A>G) | |
17 | g.18146032A>T | CA398607061 | MYO15A | c.6434A>T (p.Glu2145Val) n.19A>T c.6374A>T (p.Glu2125Val) c.6342+32A>T (n.6342+32A>T) c.6428A>T (p.Glu2143Val) n.7033A>T c.6437A>T (p.Glu2146Val) c.6213+1440A>T (n.6213+1440A>T) | |
17 | g.18146033G>A | CA498430517 | MYO15A | c.6435G>A (p.Glu2145=) n.20G>A c.6375G>A (p.Glu2125=) c.6342+33G>A (n.6342+33G>A) c.6429G>A (p.Glu2143=) n.7034G>A c.6438G>A (p.Glu2146=) c.6213+1441G>A (n.6213+1441G>A) | COSMIC |
17 | g.18146033G>C | CA398607066 | MYO15A | c.6435G>C (p.Glu2145Asp) n.20G>C c.6375G>C (p.Glu2125Asp) c.6342+33G>C (n.6342+33G>C) c.6429G>C (p.Glu2143Asp) n.7034G>C c.6438G>C (p.Glu2146Asp) c.6213+1441G>C (n.6213+1441G>C) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.18146033G= | CA2250850357 | MYO15A | c.6435G= (p.Glu2145=) n.20G= c.6375G= (p.Glu2125=) c.6342+33G= (n.6342+33G=) c.6429G= (p.Glu2143=) n.7034G= c.6438G= (p.Glu2146=) c.6213+1441G= (n.6213+1441G=) | |
17 | g.18146033G>T | CA398607070 | MYO15A | c.6435G>T (p.Glu2145Asp) n.20G>T c.6375G>T (p.Glu2125Asp) c.6342+33G>T (n.6342+33G>T) c.6429G>T (p.Glu2143Asp) n.7034G>T c.6438G>T (p.Glu2146Asp) c.6213+1441G>T (n.6213+1441G>T) | |
17 | g.18146034C>A | CA288407485 | MYO15A | c.6436C>A (p.Arg2146=) n.21C>A c.6376C>A (p.Arg2126=) c.6342+34C>A (n.6342+34C>A) c.6430C>A (p.Arg2144=) n.7035C>A c.6439C>A (p.Arg2147=) c.6213+1442C>A (n.6213+1442C>A) | dbSNP |
17 | g.18146034C= | CA2250850358 | MYO15A | c.6436C= (p.Arg2146=) n.21C= c.6376C= (p.Arg2126=) c.6342+34C= (n.6342+34C=) c.6430C= (p.Arg2144=) n.7035C= c.6439C= (p.Arg2147=) c.6213+1442C= (n.6213+1442C=) | |
17 | g.18146034C>G | CA398607073 | MYO15A | c.6436C>G (p.Arg2146Gly) n.21C>G c.6376C>G (p.Arg2126Gly) c.6342+34C>G (n.6342+34C>G) c.6430C>G (p.Arg2144Gly) n.7035C>G c.6439C>G (p.Arg2147Gly) c.6213+1442C>G (n.6213+1442C>G) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.18146034C>T | CA8424587 | MYO15A | c.6436C>T (p.Arg2146Trp) n.21C>T c.6376C>T (p.Arg2126Trp) c.6342+34C>T (n.6342+34C>T) c.6430C>T (p.Arg2144Trp) n.7035C>T c.6439C>T (p.Arg2147Trp) c.6213+1442C>T (n.6213+1442C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.18146035G>A | CA8424588 | MYO15A | c.6437G>A (p.Arg2146Gln) n.22G>A c.6377G>A (p.Arg2126Gln) c.6342+35G>A (n.6342+35G>A) c.6431G>A (p.Arg2144Gln) n.7036G>A c.6440G>A (p.Arg2147Gln) c.6213+1443G>A (n.6213+1443G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.18146035G>C | CA398607080 | MYO15A | c.6437G>C (p.Arg2146Pro) n.22G>C c.6377G>C (p.Arg2126Pro) c.6342+35G>C (n.6342+35G>C) c.6431G>C (p.Arg2144Pro) n.7036G>C c.6440G>C (p.Arg2147Pro) c.6213+1443G>C (n.6213+1443G>C) | |
17 | g.18146035G= | CA2250850359 | MYO15A | c.6437G= (p.Arg2146=) n.22G= c.6377G= (p.Arg2126=) c.6342+35G= (n.6342+35G=) c.6431G= (p.Arg2144=) n.7036G= c.6440G= (p.Arg2147=) c.6213+1443G= (n.6213+1443G=) | |
17 | g.18146035G>T | CA398607082 | MYO15A | c.6437G>T (p.Arg2146Leu) n.22G>T c.6377G>T (p.Arg2126Leu) c.6342+35G>T (n.6342+35G>T) c.6431G>T (p.Arg2144Leu) n.7036G>T c.6440G>T (p.Arg2147Leu) c.6213+1443G>T (n.6213+1443G>T) | |
17 | g.18146038dup | CA658798728 | MYO15A | c.6440dup (p.Trp2148LeufsTer27) n.25dup c.6380dup (p.Trp2128LeufsTer27) c.6342+38dup (n.6342+38dup) c.6434dup (p.Trp2146LeufsTer27) n.7039dup c.6443dup (p.Trp2149LeufsTer27) c.6213+1446dup (n.6213+1446dup) | ClinVar dbSNP |
17 | g.18146036G>A | CA498430518 | MYO15A | c.6438G>A (p.Arg2146=) n.23G>A c.6378G>A (p.Arg2126=) c.6342+36G>A (n.6342+36G>A) c.6432G>A (p.Arg2144=) n.7037G>A c.6441G>A (p.Arg2147=) c.6213+1444G>A (n.6213+1444G>A) | |
17 | g.18146036G>C | CA498430520 | MYO15A | c.6438G>C (p.Arg2146=) n.23G>C c.6378G>C (p.Arg2126=) c.6342+36G>C (n.6342+36G>C) c.6432G>C (p.Arg2144=) n.7037G>C c.6441G>C (p.Arg2147=) c.6213+1444G>C (n.6213+1444G>C) | |
17 | g.18146036G>T | CA498430519 | MYO15A | c.6438G>T (p.Arg2146=) n.23G>T c.6378G>T (p.Arg2126=) c.6342+36G>T (n.6342+36G>T) c.6432G>T (p.Arg2144=) n.7037G>T c.6441G>T (p.Arg2147=) c.6213+1444G>T (n.6213+1444G>T) | |
17 | g.18146037G>A | CA398607086 | MYO15A | c.6439G>A (p.Gly2147Ser) n.24G>A c.6379G>A (p.Gly2127Ser) c.6342+37G>A (n.6342+37G>A) c.6433G>A (p.Gly2145Ser) n.7038G>A c.6442G>A (p.Gly2148Ser) c.6213+1445G>A (n.6213+1445G>A) | |
17 | g.18146037G>C | CA398607088 | MYO15A | c.6439G>C (p.Gly2147Arg) n.24G>C c.6379G>C (p.Gly2127Arg) c.6342+37G>C (n.6342+37G>C) c.6433G>C (p.Gly2145Arg) n.7038G>C c.6442G>C (p.Gly2148Arg) c.6213+1445G>C (n.6213+1445G>C) | |
17 | g.18146037G>T | CA398607089 | MYO15A | c.6439G>T (p.Gly2147Cys) n.24G>T c.6379G>T (p.Gly2127Cys) c.6342+37G>T (n.6342+37G>T) c.6433G>T (p.Gly2145Cys) n.7038G>T c.6442G>T (p.Gly2148Cys) c.6213+1445G>T (n.6213+1445G>T) | |
17 | g.18146038G>A | CA398607096 | MYO15A | c.6440G>A (p.Gly2147Asp) n.25G>A c.6380G>A (p.Gly2127Asp) c.6342+38G>A (n.6342+38G>A) c.6434G>A (p.Gly2145Asp) n.7039G>A c.6443G>A (p.Gly2148Asp) c.6213+1446G>A (n.6213+1446G>A) | |
17 | g.18146038G>C | CA398607094 | MYO15A | c.6440G>C (p.Gly2147Ala) n.25G>C c.6380G>C (p.Gly2127Ala) c.6342+38G>C (n.6342+38G>C) c.6434G>C (p.Gly2145Ala) n.7039G>C c.6443G>C (p.Gly2148Ala) c.6213+1446G>C (n.6213+1446G>C) | |
17 | g.18146038G>T | CA398607092 | MYO15A | c.6440G>T (p.Gly2147Val) n.25G>T c.6380G>T (p.Gly2127Val) c.6342+38G>T (n.6342+38G>T) c.6434G>T (p.Gly2145Val) n.7039G>T c.6443G>T (p.Gly2148Val) c.6213+1446G>T (n.6213+1446G>T) | |
17 | g.18146039C>A | CA498430521 | MYO15A | c.6441C>A (p.Gly2147=) n.26C>A c.6381C>A (p.Gly2127=) c.6342+39C>A (n.6342+39C>A) c.6435C>A (p.Gly2145=) n.7040C>A c.6444C>A (p.Gly2148=) c.6213+1447C>A (n.6213+1447C>A) | |
17 | g.18146039C>G | CA498430522 | MYO15A | c.6441C>G (p.Gly2147=) n.26C>G c.6381C>G (p.Gly2127=) c.6342+39C>G (n.6342+39C>G) c.6435C>G (p.Gly2145=) n.7040C>G c.6444C>G (p.Gly2148=) c.6213+1447C>G (n.6213+1447C>G) | |
17 | g.18146039C>T | CA498430523 | MYO15A | c.6441C>T (p.Gly2147=) n.26C>T c.6381C>T (p.Gly2127=) c.6342+39C>T (n.6342+39C>T) c.6435C>T (p.Gly2145=) n.7040C>T c.6444C>T (p.Gly2148=) c.6213+1447C>T (n.6213+1447C>T) | |
17 | g.18146040T>A | CA398607099 | MYO15A | c.6442T>A (p.Trp2148Arg) n.27T>A c.6382T>A (p.Trp2128Arg) c.6342+40T>A (n.6342+40T>A) c.6436T>A (p.Trp2146Arg) n.7041T>A c.6445T>A (p.Trp2149Arg) c.6213+1448T>A (n.6213+1448T>A) | ClinVar dbSNP gnomAD v4 |
17 | g.18146040T>C | CA398607100 | MYO15A | c.6442T>C (p.Trp2148Arg) n.27T>C c.6382T>C (p.Trp2128Arg) c.6342+40T>C (n.6342+40T>C) c.6436T>C (p.Trp2146Arg) n.7041T>C c.6445T>C (p.Trp2149Arg) c.6213+1448T>C (n.6213+1448T>C) | |
17 | g.18146040T>G | CA398607103 | MYO15A | c.6442T>G (p.Trp2148Gly) n.27T>G c.6382T>G (p.Trp2128Gly) c.6342+40T>G (n.6342+40T>G) c.6436T>G (p.Trp2146Gly) n.7041T>G c.6445T>G (p.Trp2149Gly) c.6213+1448T>G (n.6213+1448T>G) | |
17 | g.18146041G>A | CA398607105 | MYO15A | c.6443G>A (p.Trp2148Ter) n.28G>A c.6383G>A (p.Trp2128Ter) c.6342+41G>A (n.6342+41G>A) c.6437G>A (p.Trp2146Ter) n.7042G>A c.6446G>A (p.Trp2149Ter) c.6213+1449G>A (n.6213+1449G>A) | |
17 | g.18146041G>C | CA398607108 | MYO15A | c.6443G>C (p.Trp2148Ser) n.28G>C c.6383G>C (p.Trp2128Ser) c.6342+41G>C (n.6342+41G>C) c.6437G>C (p.Trp2146Ser) n.7042G>C c.6446G>C (p.Trp2149Ser) c.6213+1449G>C (n.6213+1449G>C) | |
17 | g.18146041G>T | CA398607116 | MYO15A | c.6443G>T (p.Trp2148Leu) n.28G>T c.6383G>T (p.Trp2128Leu) c.6342+41G>T (n.6342+41G>T) c.6437G>T (p.Trp2146Leu) n.7042G>T c.6446G>T (p.Trp2149Leu) c.6213+1449G>T (n.6213+1449G>T) | |
17 | g.18146042G>A | CA398607119 | MYO15A | c.6444G>A (p.Trp2148Ter) n.29G>A c.6384G>A (p.Trp2128Ter) c.6342+42G>A (n.6342+42G>A) c.6438G>A (p.Trp2146Ter) n.7043G>A c.6447G>A (p.Trp2149Ter) c.6213+1450G>A (n.6213+1450G>A) | |
17 | g.18146042G>C | CA398607121 | MYO15A | c.6444G>C (p.Trp2148Cys) n.29G>C c.6384G>C (p.Trp2128Cys) c.6342+42G>C (n.6342+42G>C) c.6438G>C (p.Trp2146Cys) n.7043G>C c.6447G>C (p.Trp2149Cys) c.6213+1450G>C (n.6213+1450G>C) | |
17 | g.18146042G>T | CA398607124 | MYO15A | c.6444G>T (p.Trp2148Cys) n.29G>T c.6384G>T (p.Trp2128Cys) c.6342+42G>T (n.6342+42G>T) c.6438G>T (p.Trp2146Cys) n.7043G>T c.6447G>T (p.Trp2149Cys) c.6213+1450G>T (n.6213+1450G>T) | |
17 | g.18146043C>A | CA398607128 | MYO15A | c.6445C>A (p.Leu2149Met) n.30C>A c.6385C>A (p.Leu2129Met) c.6342+43C>A (n.6342+43C>A) c.6439C>A (p.Leu2147Met) n.7044C>A c.6448C>A (p.Leu2150Met) c.6213+1451C>A (n.6213+1451C>A) | COSMIC |
17 | g.18146043C>G | CA398607130 | MYO15A | c.6445C>G (p.Leu2149Val) n.30C>G c.6385C>G (p.Leu2129Val) c.6342+43C>G (n.6342+43C>G) c.6439C>G (p.Leu2147Val) n.7044C>G c.6448C>G (p.Leu2150Val) c.6213+1451C>G (n.6213+1451C>G) | |
17 | g.18146043C>T | CA498430524 | MYO15A | c.6445C>T (p.Leu2149=) n.30C>T c.6385C>T (p.Leu2129=) c.6342+43C>T (n.6342+43C>T) c.6439C>T (p.Leu2147=) n.7044C>T c.6448C>T (p.Leu2150=) c.6213+1451C>T (n.6213+1451C>T) | |
17 | g.18146044T>A | CA398607135 | MYO15A | c.6446T>A (p.Leu2149Gln) n.31T>A c.6386T>A (p.Leu2129Gln) c.6342+44T>A (n.6342+44T>A) c.6440T>A (p.Leu2147Gln) n.7045T>A c.6449T>A (p.Leu2150Gln) c.6213+1452T>A (n.6213+1452T>A) | |
17 | g.18146044T>C | CA398607137 | MYO15A | c.6446T>C (p.Leu2149Pro) n.31T>C c.6386T>C (p.Leu2129Pro) c.6342+44T>C (n.6342+44T>C) c.6440T>C (p.Leu2147Pro) n.7045T>C c.6449T>C (p.Leu2150Pro) c.6213+1452T>C (n.6213+1452T>C) | |
17 | g.18146044T>G | CA398607133 | MYO15A | c.6446T>G (p.Leu2149Arg) n.31T>G c.6386T>G (p.Leu2129Arg) c.6342+44T>G (n.6342+44T>G) c.6440T>G (p.Leu2147Arg) n.7045T>G c.6449T>G (p.Leu2150Arg) c.6213+1452T>G (n.6213+1452T>G) | gnomAD v4 |
17 | g.18146045G>A | CA498430525 | MYO15A | c.6447G>A (p.Leu2149=) n.32G>A c.6387G>A (p.Leu2129=) c.6342+45G>A (n.6342+45G>A) c.6441G>A (p.Leu2147=) n.7046G>A c.6450G>A (p.Leu2150=) c.6213+1453G>A (n.6213+1453G>A) | |
17 | g.18146045G>C | CA498430526 | MYO15A | c.6447G>C (p.Leu2149=) n.32G>C c.6387G>C (p.Leu2129=) c.6342+45G>C (n.6342+45G>C) c.6441G>C (p.Leu2147=) n.7046G>C c.6450G>C (p.Leu2150=) c.6213+1453G>C (n.6213+1453G>C) | |
17 | g.18146045G>T | CA498430527 | MYO15A | c.6447G>T (p.Leu2149=) n.32G>T c.6387G>T (p.Leu2129=) c.6342+45G>T (n.6342+45G>T) c.6441G>T (p.Leu2147=) n.7046G>T c.6450G>T (p.Leu2150=) c.6213+1453G>T (n.6213+1453G>T) |