Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.57037600_57037620del | CA690259801 | MYO1A | c.1993_2013del (p.Ser665_Leu671del) c.1507_1527del (p.Ser503_Leu509del) | dbSNP gnomAD v4 |
12 | g.57037618C>A | CA385377369 | MYO1A | c.1985G>T (p.Gly662Val) c.1499G>T (p.Gly500Val) | |
12 | g.57037618C= | CA2038684600 | MYO1A | c.1985G= (p.Gly662=) c.1499G= (p.Gly500=) | |
12 | g.57037618C>G | CA385377370 | MYO1A | c.1985G>C (p.Gly662Ala) c.1499G>C (p.Gly500Ala) | |
12 | g.57037618C>T | CA136002 | MYO1A | c.1985G>A (p.Gly662Glu) c.1499G>A (p.Gly500Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.57037619C>A | CA385377371 | MYO1A | c.1984G>T (p.Gly662Trp) c.1498G>T (p.Gly500Trp) | |
12 | g.57037619C>G | CA385377372 | MYO1A | c.1984G>C (p.Gly662Arg) c.1498G>C (p.Gly500Arg) | |
12 | g.57037619C>T | CA385377373 | MYO1A | c.1984G>A (p.Gly662Arg) c.1498G>A (p.Gly500Arg) | |
12 | g.57037620C>A | CA480384561 | MYO1A | c.1983G>T (p.Leu661=) c.1497G>T (p.Leu499=) | |
12 | g.57037620C>G | CA480384562 | MYO1A | c.1983G>C (p.Leu661=) c.1497G>C (p.Leu499=) | |
12 | g.57037620C>T | CA480384563 | MYO1A | c.1983G>A (p.Leu661=) c.1497G>A (p.Leu499=) | |
12 | g.57037621A>C | CA385377375 | MYO1A | c.1982T>G (p.Leu661Arg) c.1496T>G (p.Leu499Arg) | |
12 | g.57037621A>G | CA385377376 | MYO1A | c.1982T>C (p.Leu661Pro) c.1496T>C (p.Leu499Pro) | |
12 | g.57037621A>T | CA385377374 | MYO1A | c.1982T>A (p.Leu661Gln) c.1496T>A (p.Leu499Gln) | |
12 | g.57037622G>A | CA6639909 | MYO1A | c.1981C>T (p.Leu661=) c.1495C>T (p.Leu499=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.57037622G>C | CA385377377 | MYO1A | c.1981C>G (p.Leu661Val) c.1495C>G (p.Leu499Val) | |
12 | g.57037622G= | CA2038684609 | MYO1A | c.1981C= (p.Leu661=) c.1495C= (p.Leu499=) | |
12 | g.57037622G>T | CA385377378 | MYO1A | c.1981C>A (p.Leu661Met) c.1495C>A (p.Leu499Met) | COSMIC |
12 | g.57037623G>A | CA480384565 | MYO1A | c.1980C>T (p.Val660=) c.1494C>T (p.Val498=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.57037623G>C | CA480384567 | MYO1A | c.1980C>G (p.Val660=) c.1494C>G (p.Val498=) | |
12 | g.57037623G= | CA2038684612 | MYO1A | c.1980C= (p.Val660=) c.1494C= (p.Val498=) | |
12 | g.57037623G>T | CA480384566 | MYO1A | c.1980C>A (p.Val660=) c.1494C>A (p.Val498=) | |
12 | g.57037624A>C | CA385377379 | MYO1A | c.1979T>G (p.Val660Gly) c.1493T>G (p.Val498Gly) | |
12 | g.57037624A>G | CA385377380 | MYO1A | c.1979T>C (p.Val660Ala) c.1493T>C (p.Val498Ala) | |
12 | g.57037624A>T | CA385377381 | MYO1A | c.1979T>A (p.Val660Asp) c.1493T>A (p.Val498Asp) | |
12 | g.57037625C>A | CA385377384 | MYO1A | c.1978G>T (p.Val660Phe) c.1492G>T (p.Val498Phe) | |
12 | g.57037625C>G | CA385377382 | MYO1A | c.1978G>C (p.Val660Leu) c.1492G>C (p.Val498Leu) | |
12 | g.57037625C>T | CA385377383 | MYO1A | c.1978G>A (p.Val660Ile) c.1492G>A (p.Val498Ile) | |
12 | g.57037626C>A | CA385377385 | MYO1A | c.1977G>T (p.Lys659Asn) c.1491G>T (p.Lys497Asn) | |
12 | g.57037626C>G | CA385377386 | MYO1A | c.1977G>C (p.Lys659Asn) c.1491G>C (p.Lys497Asn) | |
12 | g.57037626C>T | CA480384572 | MYO1A | c.1977G>A (p.Lys659=) c.1491G>A (p.Lys497=) | |
12 | g.57037627_57037628insCCAGGAAGCT | CA2575196596 | MYO1A | c.1977_1978insCTTCCTGGAG (p.Val660LeufsTer25) c.1491_1492insCTTCCTGGAG (p.Val498LeufsTer25) | |
12 | g.57037627T>A | CA385377387 | MYO1A | c.1976A>T (p.Lys659Met) c.1490A>T (p.Lys497Met) | |
12 | g.57037627T>C | CA385377388 | MYO1A | c.1976A>G (p.Lys659Arg) c.1490A>G (p.Lys497Arg) | |
12 | g.57037627T>G | CA385377389 | MYO1A | c.1976A>C (p.Lys659Thr) c.1490A>C (p.Lys497Thr) | |
12 | g.57037627T= | CA2038684616 | MYO1A | c.1976A= (p.Lys659=) c.1490A= (p.Lys497=) | |
12 | g.57037628dup | CA2619401047 | MYO1A | c.1976dup (p.Val660GlyfsTer22) c.1490dup (p.Val498GlyfsTer22) | gnomAD v4 |
12 | g.57037628T>A | CA385377390 | MYO1A | c.1975A>T (p.Lys659Ter) c.1489A>T (p.Lys497Ter) | |
12 | g.57037628T>C | CA385377392 | MYO1A | c.1975A>G (p.Lys659Glu) c.1489A>G (p.Lys497Glu) | |
12 | g.57037628T>G | CA385377391 | MYO1A | c.1975A>C (p.Lys659Gln) c.1489A>C (p.Lys497Gln) | |
12 | g.57037630_57037631dup | CA605703001 | MYO1A | c.1974_1975dup (p.Lys659ArgfsTer7) c.1488_1489dup (p.Lys497ArgfsTer7) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.57037629C>A | CA385377393 | MYO1A | c.1974G>T (p.Glu658Asp) c.1488G>T (p.Glu496Asp) | |
12 | g.57037629C>G | CA385377394 | MYO1A | c.1974G>C (p.Glu658Asp) c.1488G>C (p.Glu496Asp) | |
12 | g.57037629C>T | CA480384576 | MYO1A | c.1974G>A (p.Glu658=) c.1488G>A (p.Glu496=) | |
12 | g.57037630T>A | CA385377395 | MYO1A | c.1973A>T (p.Glu658Val) c.1487A>T (p.Glu496Val) | |
12 | g.57037630T>C | CA385377396 | MYO1A | c.1973A>G (p.Glu658Gly) c.1487A>G (p.Glu496Gly) | |
12 | g.57037630T>G | CA385377397 | MYO1A | c.1973A>C (p.Glu658Ala) c.1487A>C (p.Glu496Ala) | |
12 | g.57037631C>A | CA385377398 | MYO1A | c.1972G>T (p.Glu658Ter) c.1486G>T (p.Glu496Ter) | dbSNP |
12 | g.57037631C= | CA2038684623 | MYO1A | c.1972G= (p.Glu658=) c.1486G= (p.Glu496=) | |
12 | g.57037631C>G | CA385377399 | MYO1A | c.1972G>C (p.Glu658Gln) c.1486G>C (p.Glu496Gln) |