Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.57037520C=CA2038684478MYO1Ac.2055+28G= (n.2055+28G=)
c.1569+28G= (n.1569+28G=)
12g.57037520C>TCA2038684479MYO1Ac.2055+28G>A (n.2055+28G>A)
c.1569+28G>A (n.1569+28G>A)
 dbSNP
12g.57037521C=CA2038684480MYO1Ac.2055+27G= (n.2055+27G=)
c.1569+27G= (n.1569+27G=)
12g.57037521C>TCA237699454MYO1Ac.2055+27G>A (n.2055+27G>A)
c.1569+27G>A (n.1569+27G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.57037527C=CA2038684482MYO1Ac.2055+21G= (n.2055+21G=)
c.1569+21G= (n.1569+21G=)
12g.57037527C>TCA2038684483MYO1Ac.2055+21G>A (n.2055+21G>A)
c.1569+21G>A (n.1569+21G>A)
 dbSNP
12g.57037528T>GCA6639887MYO1Ac.2055+20A>C (n.2055+20A>C)
c.1569+20A>C (n.1569+20A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.57037528T=CA2038684484MYO1Ac.2055+20A= (n.2055+20A=)
c.1569+20A= (n.1569+20A=)
12g.57037530A>GCA2726244094MYO1Ac.2055+18T>C (n.2055+18T>C)
c.1569+18T>C (n.1569+18T>C)
 dbSNP
12g.57037531T>CCA2038684487MYO1Ac.2055+17A>G (n.2055+17A>G)
c.1569+17A>G (n.1569+17A>G)
 dbSNP gnomAD v4
12g.57037531T=CA2038684486MYO1Ac.2055+17A= (n.2055+17A=)
c.1569+17A= (n.1569+17A=)
12g.57037532G>ACA6639888MYO1Ac.2055+16C>T (n.2055+16C>T)
c.1569+16C>T (n.1569+16C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.57037532G=CA2038684490MYO1Ac.2055+16C= (n.2055+16C=)
c.1569+16C= (n.1569+16C=)
12g.57037533C>TCA2619400761MYO1Ac.2055+15G>A (n.2055+15G>A)
c.1569+15G>A (n.1569+15G>A)
 gnomAD v4
12g.57037534A=CA2038684492MYO1Ac.2055+14T= (n.2055+14T=)
c.1569+14T= (n.1569+14T=)
12g.57037534A>CCA690259712MYO1Ac.2055+14T>G (n.2055+14T>G)
c.1569+14T>G (n.1569+14T>G)
 dbSNP
12g.57037535C=CA2038684493MYO1Ac.2055+13G= (n.2055+13G=)
c.1569+13G= (n.1569+13G=)
12g.57037535C>GCA2619400765MYO1Ac.2055+13G>C (n.2055+13G>C)
c.1569+13G>C (n.1569+13G>C)
 gnomAD v4
12g.57037535C>TCA6639889MYO1Ac.2055+13G>A (n.2055+13G>A)
c.1569+13G>A (n.1569+13G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.57037537C>TCA2619400768MYO1Ac.2055+11G>A (n.2055+11G>A)
c.1569+11G>A (n.1569+11G>A)
 gnomAD v4
12g.57037539C>ACA6639890MYO1Ac.2055+9G>T (n.2055+9G>T)
c.1569+9G>T (n.1569+9G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.57037539C=CA2038684494MYO1Ac.2055+9G= (n.2055+9G=)
c.1569+9G= (n.1569+9G=)
12g.57037540T>GCA2619400773MYO1Ac.2055+8A>C (n.2055+8A>C)
c.1569+8A>C (n.1569+8A>C)
 gnomAD v4
12g.57037541A>GCA2619400774MYO1Ac.2055+7T>C (n.2055+7T>C)
c.1569+7T>C (n.1569+7T>C)
 gnomAD v4
12g.57037542A>GCA2619400776MYO1Ac.2055+6T>C (n.2055+6T>C)
c.1569+6T>C (n.1569+6T>C)
 gnomAD v4
12g.57037543C>GCA2619400784MYO1Ac.2055+5G>C (n.2055+5G>C)
c.1569+5G>C (n.1569+5G>C)
 gnomAD v4
12g.57037543C>TCA912996381MYO1Ac.2055+5G>A (n.2055+5G>A)
c.1569+5G>A (n.1569+5G>A)
 gnomAD v4
12g.57037544_57037546delinsTCACA2038684496MYO1Ac.2055+2_2055+4delinsTGA (n.2055+2_2055+4delinsTGA)
c.1569+2_1569+4delinsTGA (n.1569+2_1569+4delinsTGA)
12g.57037545C>ACA2619400802MYO1Ac.2055+3G>T (n.2055+3G>T)
c.1569+3G>T (n.1569+3G>T)
 gnomAD v4
12g.57037545C>TCA2619400805MYO1Ac.2055+3G>A (n.2055+3G>A)
c.1569+3G>A (n.1569+3G>A)
 gnomAD v4
12g.57037547_57037548delCA6639891MYO1Ac.2055+2_2055+3del
c.1569+2_1569+3del
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.57037546A=CA2038684500MYO1Ac.2055+2T= (n.2055+2T=)
c.1569+2T= (n.1569+2T=)
12g.57037546A>CCA6639892MYO1Ac.2055+2T>G (n.2055+2T>G)
c.1569+2T>G (n.1569+2T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.57037546A>GCA385377029MYO1Ac.2055+2T>C (n.2055+2T>C)
c.1569+2T>C (n.1569+2T>C)
12g.57037546A>TCA385377031MYO1Ac.2055+2T>A (n.2055+2T>A)
c.1569+2T>A (n.1569+2T>A)
 dbSNP
12g.57037547C>ACA6639893MYO1Ac.2055+1G>T (n.2055+1G>T)
c.1569+1G>T (n.1569+1G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.57037547C=CA2038684501MYO1Ac.2055+1G= (n.2055+1G=)
c.1569+1G= (n.1569+1G=)
12g.57037547C>GCA385377037MYO1Ac.2055+1G>C (n.2055+1G>C)
c.1569+1G>C (n.1569+1G>C)
 dbSNP
12g.57037547C>TCA385377040MYO1Ac.2055+1G>A (n.2055+1G>A)
c.1569+1G>A (n.1569+1G>A)
12g.57037547_57037548insTGTGCA6639894MYO1Ac.2055_2055+1insCACA (n.2055_2055+1insCACA)
c.1569_1569+1insCACA (n.1569_1569+1insCACA)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.57037548A=CA2038684502MYO1Ac.2055T= (p.Thr685=)
c.1569T= (p.Thr523=)
12g.57037548A>CCA480230162MYO1Ac.2055T>G (p.Thr685=)
c.1569T>G (p.Thr523=)
12g.57037548A>GCA6639895MYO1Ac.2055T>C (p.Thr685=)
c.1569T>C (p.Thr523=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.57037548A>TCA480230167MYO1Ac.2055T>A (p.Thr685=)
c.1569T>A (p.Thr523=)
12g.57037548dupCA2619400815MYO1Ac.2055dup (p.Leu686SerfsTer?)
c.1569dup (p.Leu524SerfsTer?)
 gnomAD v4
12g.57037549G>ACA385377049MYO1Ac.2054C>T (p.Thr685Ile)
c.1568C>T (p.Thr523Ile)
12g.57037549G>CCA385377050MYO1Ac.2054C>G (p.Thr685Ser)
c.1568C>G (p.Thr523Ser)
12g.57037549G>TCA385377052MYO1Ac.2054C>A (p.Thr685Asn)
c.1568C>A (p.Thr523Asn)
12g.57037550T>ACA385377055MYO1Ac.2053A>T (p.Thr685Ser)
c.1567A>T (p.Thr523Ser)
12g.57037550T>CCA385377058MYO1Ac.2053A>G (p.Thr685Ala)
c.1567A>G (p.Thr523Ala)
 dbSNP gnomAD v4
12g.57037550T>GCA385377059MYO1Ac.2053A>C (p.Thr685Pro)
c.1567A>C (p.Thr523Pro)
12g.57037550T=CA2038684504MYO1Ac.2053A= (p.Thr685=)
c.1567A= (p.Thr523=)
12g.57037551C>ACA385377060MYO1Ac.2052G>T (p.Lys684Asn)
c.1566G>T (p.Lys522Asn)
12g.57037551C>GCA385377062MYO1Ac.2052G>C (p.Lys684Asn)
c.1566G>C (p.Lys522Asn)
12g.57037551C>TCA480230181MYO1Ac.2052G>A (p.Lys684=)
c.1566G>A (p.Lys522=)
 gnomAD v4
12g.57037552T>ACA385377066MYO1Ac.2051A>T (p.Lys684Met)
c.1565A>T (p.Lys522Met)
12g.57037552T>CCA385377067MYO1Ac.2051A>G (p.Lys684Arg)
c.1565A>G (p.Lys522Arg)
 gnomAD v4
12g.57037552T>GCA385377068MYO1Ac.2051A>C (p.Lys684Thr)
c.1565A>C (p.Lys522Thr)
12g.57037553T>ACA385377075MYO1Ac.2050A>T (p.Lys684Ter)
c.1564A>T (p.Lys522Ter)
12g.57037553T>CCA385377072MYO1Ac.2050A>G (p.Lys684Glu)
c.1564A>G (p.Lys522Glu)
 gnomAD v4
12g.57037553T>GCA385377070MYO1Ac.2050A>C (p.Lys684Gln)
c.1564A>C (p.Lys522Gln)
12g.57037554G>ACA480384453MYO1Ac.2049C>T (p.Pro683=)
c.1563C>T (p.Pro521=)
 gnomAD v4
12g.57037554G>CCA480384454MYO1Ac.2049C>G (p.Pro683=)
c.1563C>G (p.Pro521=)
12g.57037554G=CA2038684507MYO1Ac.2049C= (p.Pro683=)
c.1563C= (p.Pro521=)
12g.57037554G>TCA480384455MYO1Ac.2049C>A (p.Pro683=)
c.1563C>A (p.Pro521=)
 dbSNP gnomAD v4
12g.57037557delCA2796128271MYO1Ac.2049del (p.Lys684ArgfsTer12)
c.1563del (p.Lys522ArgfsTer12)
12g.57037555G>ACA385377079MYO1Ac.2048C>T (p.Pro683Leu)
c.1562C>T (p.Pro521Leu)
12g.57037555G>CCA385377083MYO1Ac.2048C>G (p.Pro683Arg)
c.1562C>G (p.Pro521Arg)
12g.57037555G>TCA385377081MYO1Ac.2048C>A (p.Pro683His)
c.1562C>A (p.Pro521His)
12g.57037556G>ACA385377087MYO1Ac.2047C>T (p.Pro683Ser)
c.1561C>T (p.Pro521Ser)
 COSMIC
12g.57037556G>CCA385377089MYO1Ac.2047C>G (p.Pro683Ala)
c.1561C>G (p.Pro521Ala)
12g.57037556G>TCA385377092MYO1Ac.2047C>A (p.Pro683Thr)
c.1561C>A (p.Pro521Thr)
12g.57037557G>ACA6639896MYO1Ac.2046C>T (p.Ser682=)
c.1560C>T (p.Ser520=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.57037557G>CCA385377095MYO1Ac.2046C>G (p.Ser682Arg)
c.1560C>G (p.Ser520Arg)
12g.57037557G=CA2038684510MYO1Ac.2046C= (p.Ser682=)
c.1560C= (p.Ser520=)
12g.57037557G>TCA385377098MYO1Ac.2046C>A (p.Ser682Arg)
c.1560C>A (p.Ser520Arg)
 gnomAD v4
12g.57037558C>ACA385377100MYO1Ac.2045G>T (p.Ser682Ile)
c.1559G>T (p.Ser520Ile)
12g.57037558C=CA2038684513MYO1Ac.2045G= (p.Ser682=)
c.1559G= (p.Ser520=)
12g.57037558C>GCA385377103MYO1Ac.2045G>C (p.Ser682Thr)
c.1559G>C (p.Ser520Thr)
12g.57037558C>TCA6639897MYO1Ac.2045G>A (p.Ser682Asn)
c.1559G>A (p.Ser520Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.57037559T>ACA385377108MYO1Ac.2044A>T (p.Ser682Cys)
c.1558A>T (p.Ser520Cys)
 dbSNP gnomAD v4
12g.57037559T>CCA385377111MYO1Ac.2044A>G (p.Ser682Gly)
c.1558A>G (p.Ser520Gly)
 gnomAD v4
12g.57037559T>GCA385377113MYO1Ac.2044A>C (p.Ser682Arg)
c.1558A>C (p.Ser520Arg)
12g.57037559T=CA2038684516MYO1Ac.2044A= (p.Ser682=)
c.1558A= (p.Ser520=)
12g.57037560T>ACA385377118MYO1Ac.2043A>T (p.Arg681Ser)
c.1557A>T (p.Arg519Ser)
12g.57037560T>CCA480384458MYO1Ac.2043A>G (p.Arg681=)
c.1557A>G (p.Arg519=)
12g.57037560T>GCA385377116MYO1Ac.2043A>C (p.Arg681Ser)
c.1557A>C (p.Arg519Ser)
12g.57037561C>ACA385377121MYO1Ac.2042G>T (p.Arg681Ile)
c.1556G>T (p.Arg519Ile)
12g.57037561C>GCA385377124MYO1Ac.2042G>C (p.Arg681Thr)
c.1556G>C (p.Arg519Thr)
12g.57037561C>TCA385377126MYO1Ac.2042G>A (p.Arg681Lys)
c.1556G>A (p.Arg519Lys)
12g.57037562T>ACA385377129MYO1Ac.2041A>T (p.Arg681Ter)
c.1555A>T (p.Arg519Ter)
12g.57037562T>CCA385377131MYO1Ac.2041A>G (p.Arg681Gly)
c.1555A>G (p.Arg519Gly)
12g.57037562T>GCA480384465MYO1Ac.2041A>C (p.Arg681=)
c.1555A>C (p.Arg519=)
12g.57037563A>CCA385377135MYO1Ac.2040T>G (p.Ile680Met)
c.1554T>G (p.Ile518Met)
 gnomAD v4
12g.57037563A>GCA480384466MYO1Ac.2040T>C (p.Ile680=)
c.1554T>C (p.Ile518=)
12g.57037563A>TCA480384467MYO1Ac.2040T>A (p.Ile680=)
c.1554T>A (p.Ile518=)
12g.57037564A>CCA385377143MYO1Ac.2039T>G (p.Ile680Ser)
c.1553T>G (p.Ile518Ser)
12g.57037564A>GCA385377141MYO1Ac.2039T>C (p.Ile680Thr)
c.1553T>C (p.Ile518Thr)
12g.57037564A>TCA385377138MYO1Ac.2039T>A (p.Ile680Asn)
c.1553T>A (p.Ile518Asn)
12g.57037565T>ACA385377147MYO1Ac.2038A>T (p.Ile680Phe)
c.1552A>T (p.Ile518Phe)
 dbSNP gnomAD v4
12g.57037565T>CCA385377149MYO1Ac.2038A>G (p.Ile680Val)
c.1552A>G (p.Ile518Val)
12g.57037565T>GCA385377152MYO1Ac.2038A>C (p.Ile680Leu)
c.1552A>C (p.Ile518Leu)
12g.57037565T=CA2038684518MYO1Ac.2038A= (p.Ile680=)
c.1552A= (p.Ile518=)
12g.57037565_57037568delinsTGAACA2038684517MYO1Ac.2035_2038delinsTTCA (p.Phe679=)
c.1549_1552delinsTTCA (p.Phe517=)
12g.57037566G>ACA480384471MYO1Ac.2037C>T (p.Phe679=)
c.1551C>T (p.Phe517=)
 COSMIC
12g.57037566G>CCA385377155MYO1Ac.2037C>G (p.Phe679Leu)
c.1551C>G (p.Phe517Leu)
 dbSNP
12g.57037566G>TCA385377158MYO1Ac.2037C>A (p.Phe679Leu)
c.1551C>A (p.Phe517Leu)
12g.57037568_57037570delCA6639898MYO1Ac.2035_2037del (p.Phe679del)
c.1549_1551del (p.Phe517del)
 dbSNP ExAC gnomAD v2
12g.57037567A=CA2038684522MYO1Ac.2036T= (p.Phe679=)
c.1550T= (p.Phe517=)
12g.57037567A>CCA385377163MYO1Ac.2036T>G (p.Phe679Cys)
c.1550T>G (p.Phe517Cys)
12g.57037567A>GCA6639899MYO1Ac.2036T>C (p.Phe679Ser)
c.1550T>C (p.Phe517Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.57037567A>TCA385377166MYO1Ac.2036T>A (p.Phe679Tyr)
c.1550T>A (p.Phe517Tyr)
12g.57037568A>CCA385377172MYO1Ac.2035T>G (p.Phe679Val)
c.1549T>G (p.Phe517Val)
12g.57037568A>GCA385377174MYO1Ac.2035T>C (p.Phe679Leu)
c.1549T>C (p.Phe517Leu)
 gnomAD v4
12g.57037568A>TCA385377176MYO1Ac.2035T>A (p.Phe679Ile)
c.1549T>A (p.Phe517Ile)
12g.57037569G>ACA480384475MYO1Ac.2034C>T (p.Ile678=)
c.1548C>T (p.Ile516=)
12g.57037569G>CCA385377178MYO1Ac.2034C>G (p.Ile678Met)
c.1548C>G (p.Ile516Met)
12g.57037569G=CA2038684524MYO1Ac.2034C= (p.Ile678=)
c.1548C= (p.Ile516=)
12g.57037569G>TCA480384481MYO1Ac.2034C>A (p.Ile678=)
c.1548C>A (p.Ile516=)
 dbSNP gnomAD v3 gnomAD v4
12g.57037570A>CCA385377182MYO1Ac.2033T>G (p.Ile678Ser)
c.1547T>G (p.Ile516Ser)
12g.57037570A>GCA385377185MYO1Ac.2033T>C (p.Ile678Thr)
c.1547T>C (p.Ile516Thr)
 gnomAD v4
12g.57037570A>TCA385377188MYO1Ac.2033T>A (p.Ile678Asn)
c.1547T>A (p.Ile516Asn)
 gnomAD v4
12g.57037571T>ACA177301MYO1Ac.2032A>T (p.Ile678Phe)
c.1546A>T (p.Ile516Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.57037571T>CCA385377195MYO1Ac.2032A>G (p.Ile678Val)
c.1546A>G (p.Ile516Val)
 dbSNP
12g.57037571T>GCA385377196MYO1Ac.2032A>C (p.Ile678Leu)
c.1546A>C (p.Ile516Leu)
12g.57037571T=CA2038684528MYO1Ac.2032A= (p.Ile678=)
c.1546A= (p.Ile516=)
12g.57037572C>ACA385377199MYO1Ac.2031G>T (p.Lys677Asn)
c.1545G>T (p.Lys515Asn)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
12g.57037572C=CA2038684533MYO1Ac.2031G= (p.Lys677=)
c.1545G= (p.Lys515=)
12g.57037572C>GCA385377202MYO1Ac.2031G>C (p.Lys677Asn)
c.1545G>C (p.Lys515Asn)
12g.57037572C>TCA6639900MYO1Ac.2031G>A (p.Lys677=)
c.1545G>A (p.Lys515=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.57037573T>ACA385377211MYO1Ac.2030A>T (p.Lys677Met)
c.1544A>T (p.Lys515Met)
12g.57037573T>CCA385377206MYO1Ac.2030A>G (p.Lys677Arg)
c.1544A>G (p.Lys515Arg)
 dbSNP
12g.57037573T>GCA385377208MYO1Ac.2030A>C (p.Lys677Thr)
c.1544A>C (p.Lys515Thr)
12g.57037573T=CA2038684535MYO1Ac.2030A= (p.Lys677=)
c.1544A= (p.Lys515=)
12g.57037574T>ACA385377213MYO1Ac.2029A>T (p.Lys677Ter)
c.1543A>T (p.Lys515Ter)
12g.57037574T>CCA385377215MYO1Ac.2029A>G (p.Lys677Glu)
c.1543A>G (p.Lys515Glu)
12g.57037574T>GCA385377217MYO1Ac.2029A>C (p.Lys677Gln)
c.1543A>C (p.Lys515Gln)
12g.57037575T>ACA480384487MYO1Ac.2028A>T (p.Thr676=)
c.1542A>T (p.Thr514=)
 COSMIC
12g.57037575T>CCA480384489MYO1Ac.2028A>G (p.Thr676=)
c.1542A>G (p.Thr514=)
 dbSNP gnomAD v2 gnomAD v4
12g.57037575T>GCA6639901MYO1Ac.2028A>C (p.Thr676=)
c.1542A>C (p.Thr514=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.57037575T=CA2038684538MYO1Ac.2028A= (p.Thr676=)
c.1542A= (p.Thr514=)
12g.57037576G>ACA385377222MYO1Ac.2027C>T (p.Thr676Ile)
c.1541C>T (p.Thr514Ile)
12g.57037576G>CCA385377224MYO1Ac.2027C>G (p.Thr676Arg)
c.1541C>G (p.Thr514Arg)
 gnomAD v4 COSMIC
12g.57037576G>TCA385377226MYO1Ac.2027C>A (p.Thr676Lys)
c.1541C>A (p.Thr514Lys)
12g.57037577T>ACA385377230MYO1Ac.2026A>T (p.Thr676Ser)
c.1540A>T (p.Thr514Ser)
 dbSNP gnomAD v2 gnomAD v4
12g.57037577T>CCA385377232MYO1Ac.2026A>G (p.Thr676Ala)
c.1540A>G (p.Thr514Ala)
 dbSNP gnomAD v3 gnomAD v4
12g.57037577T>GCA385377235MYO1Ac.2026A>C (p.Thr676Pro)
c.1540A>C (p.Thr514Pro)
12g.57037577T=CA2038684540MYO1Ac.2026A= (p.Thr676=)
c.1540A= (p.Thr514=)
12g.57037578C>ACA385377238MYO1Ac.2025G>T (p.Lys675Asn)
c.1539G>T (p.Lys513Asn)
12g.57037578C=CA2038684544MYO1Ac.2025G= (p.Lys675=)
c.1539G= (p.Lys513=)
12g.57037578C>GCA385377240MYO1Ac.2025G>C (p.Lys675Asn)
c.1539G>C (p.Lys513Asn)
 dbSNP
12g.57037578C>TCA480384492MYO1Ac.2025G>A (p.Lys675=)
c.1539G>A (p.Lys513=)
 gnomAD v4
12g.57037579T>ACA385377241MYO1Ac.2024A>T (p.Lys675Met)
c.1538A>T (p.Lys513Met)
12g.57037579T>CCA385377246MYO1Ac.2024A>G (p.Lys675Arg)
c.1538A>G (p.Lys513Arg)
12g.57037579T>GCA385377244MYO1Ac.2024A>C (p.Lys675Thr)
c.1538A>C (p.Lys513Thr)
12g.57037580T>ACA385377249MYO1Ac.2023A>T (p.Lys675Ter)
c.1537A>T (p.Lys513Ter)
12g.57037580T>CCA385377255MYO1Ac.2023A>G (p.Lys675Glu)
c.1537A>G (p.Lys513Glu)
 dbSNP gnomAD v2 gnomAD v4
12g.57037580T>GCA385377252MYO1Ac.2023A>C (p.Lys675Gln)
c.1537A>C (p.Lys513Gln)
12g.57037580T=CA2038684546MYO1Ac.2023A= (p.Lys675=)
c.1537A= (p.Lys513=)
12g.57037581G>ACA480384493MYO1Ac.2022C>T (p.Gly674=)
c.1536C>T (p.Gly512=)
12g.57037581G>CCA480384494MYO1Ac.2022C>G (p.Gly674=)
c.1536C>G (p.Gly512=)
12g.57037581G>TCA480384496MYO1Ac.2022C>A (p.Gly674=)
c.1536C>A (p.Gly512=)
12g.57037582C>ACA385377258MYO1Ac.2021G>T (p.Gly674Val)
c.1535G>T (p.Gly512Val)
12g.57037582C=CA2038684553MYO1Ac.2021G= (p.Gly674=)
c.1535G= (p.Gly512=)
12g.57037582C>GCA385377260MYO1Ac.2021G>C (p.Gly674Ala)
c.1535G>C (p.Gly512Ala)
12g.57037582C>TCA6639902MYO1Ac.2021G>A (p.Gly674Asp)
c.1535G>A (p.Gly512Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.57037583C>ACA385377264MYO1Ac.2020G>T (p.Gly674Cys)
c.1534G>T (p.Gly512Cys)
12g.57037583C>GCA385377266MYO1Ac.2020G>C (p.Gly674Arg)
c.1534G>C (p.Gly512Arg)
12g.57037583C>TCA385377269MYO1Ac.2020G>A (p.Gly674Ser)
c.1534G>A (p.Gly512Ser)
12g.57037584A>CCA385377272MYO1Ac.2019T>G (p.Phe673Leu)
c.1533T>G (p.Phe511Leu)
12g.57037584A>GCA480384500MYO1Ac.2019T>C (p.Phe673=)
c.1533T>C (p.Phe511=)
12g.57037584A>TCA385377274MYO1Ac.2019T>A (p.Phe673Leu)
c.1533T>A (p.Phe511Leu)
12g.57037585A>CCA385377277MYO1Ac.2018T>G (p.Phe673Cys)
c.1532T>G (p.Phe511Cys)
12g.57037585A>GCA385377279MYO1Ac.2018T>C (p.Phe673Ser)
c.1532T>C (p.Phe511Ser)
12g.57037585A>TCA385377281MYO1Ac.2018T>A (p.Phe673Tyr)
c.1532T>A (p.Phe511Tyr)
12g.57037586A>CCA385377289MYO1Ac.2017T>G (p.Phe673Val)
c.1531T>G (p.Phe511Val)
12g.57037586A>GCA385377283MYO1Ac.2017T>C (p.Phe673Leu)
c.1531T>C (p.Phe511Leu)
12g.57037586A>TCA385377287MYO1Ac.2017T>A (p.Phe673Ile)
c.1531T>A (p.Phe511Ile)
12g.57037587G>ACA480384506MYO1Ac.2016C>T (p.Ala672=)
c.1530C>T (p.Ala510=)
 gnomAD v4
12g.57037587G>CCA480384502MYO1Ac.2016C>G (p.Ala672=)
c.1530C>G (p.Ala510=)
12g.57037587G>TCA480384503MYO1Ac.2016C>A (p.Ala672=)
c.1530C>A (p.Ala510=)
12g.57037588G>ACA385377290MYO1Ac.2015C>T (p.Ala672Val)
c.1529C>T (p.Ala510Val)
 gnomAD v4
12g.57037588G>CCA385377291MYO1Ac.2015C>G (p.Ala672Gly)
c.1529C>G (p.Ala510Gly)
 dbSNP
12g.57037588G=CA2038684560MYO1Ac.2015C= (p.Ala672=)
c.1529C= (p.Ala510=)
12g.57037588G>TCA385377293MYO1Ac.2015C>A (p.Ala672Asp)
c.1529C>A (p.Ala510Asp)
12g.57037589C>ACA385377295MYO1Ac.2014G>T (p.Ala672Ser)
c.1528G>T (p.Ala510Ser)
 gnomAD v4
12g.57037589C>GCA385377297MYO1Ac.2014G>C (p.Ala672Pro)
c.1528G>C (p.Ala510Pro)
12g.57037589C>TCA385377299MYO1Ac.2014G>A (p.Ala672Thr)
c.1528G>A (p.Ala510Thr)
12g.57037589_57037610delinsCCAGCTCCCCCGAGGACATGCTCA2038684562MYO1Ac.1993_2014delinsAGCATGTCCTCGGGGGAGCTGG (p.Ser665=)
c.1507_1528delinsAGCATGTCCTCGGGGGAGCTGG (p.Ser503=)
12g.57037590C>ACA480384510MYO1Ac.2013G>T (p.Leu671=)
c.1527G>T (p.Leu509=)
 gnomAD v4
12g.57037590C>GCA480384511MYO1Ac.2013G>C (p.Leu671=)
c.1527G>C (p.Leu509=)
12g.57037590C>TCA480384512MYO1Ac.2013G>A (p.Leu671=)
c.1527G>A (p.Leu509=)
 gnomAD v4
12g.57037600_57037620delCA690259801MYO1Ac.1993_2013del (p.Ser665_Leu671del)
c.1507_1527del (p.Ser503_Leu509del)
 dbSNP gnomAD v4
12g.57037591A>CCA385377303MYO1Ac.2012T>G (p.Leu671Arg)
c.1526T>G (p.Leu509Arg)
12g.57037591A>GCA385377304MYO1Ac.2012T>C (p.Leu671Pro)
c.1526T>C (p.Leu509Pro)
12g.57037591A>TCA385377307MYO1Ac.2012T>A (p.Leu671Gln)
c.1526T>A (p.Leu509Gln)
12g.57037592G>ACA480384513MYO1Ac.2011C>T (p.Leu671=)
c.1525C>T (p.Leu509=)
12g.57037592G>CCA385377309MYO1Ac.2011C>G (p.Leu671Val)
c.1525C>G (p.Leu509Val)
12g.57037592G>TCA385377312MYO1Ac.2011C>A (p.Leu671Met)
c.1525C>A (p.Leu509Met)
12g.57037593C>ACA385377317MYO1Ac.2010G>T (p.Glu670Asp)
c.1524G>T (p.Glu508Asp)
12g.57037593C=CA2038684564MYO1Ac.2010G= (p.Glu670=)
c.1524G= (p.Glu508=)
12g.57037593C>GCA385377318MYO1Ac.2010G>C (p.Glu670Asp)
c.1524G>C (p.Glu508Asp)
12g.57037593C>TCA6639903MYO1Ac.2010G>A (p.Glu670=)
c.1524G>A (p.Glu508=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.57037594T>ACA385377319MYO1Ac.2009A>T (p.Glu670Val)
c.1523A>T (p.Glu508Val)
12g.57037594T>CCA385377320MYO1Ac.2009A>G (p.Glu670Gly)
c.1523A>G (p.Glu508Gly)
12g.57037594T>GCA385377321MYO1Ac.2009A>C (p.Glu670Ala)
c.1523A>C (p.Glu508Ala)
12g.57037595C>ACA385377322MYO1Ac.2008G>T (p.Glu670Ter)
c.1522G>T (p.Glu508Ter)
12g.57037595C>GCA385377323MYO1Ac.2008G>C (p.Glu670Gln)
c.1522G>C (p.Glu508Gln)
12g.57037595C>TCA385377324MYO1Ac.2008G>A (p.Glu670Lys)
c.1522G>A (p.Glu508Lys)
12g.57037596C>ACA480384520MYO1Ac.2007G>T (p.Gly669=)
c.1521G>T (p.Gly507=)
12g.57037596C=CA2038684567MYO1Ac.2007G= (p.Gly669=)
c.1521G= (p.Gly507=)
12g.57037596C>GCA480384522MYO1Ac.2007G>C (p.Gly669=)
c.1521G>C (p.Gly507=)
 dbSNP gnomAD v2 gnomAD v4
12g.57037596C>TCA480384521MYO1Ac.2007G>A (p.Gly669=)
c.1521G>A (p.Gly507=)
12g.57037597C>ACA385377325MYO1Ac.2006G>T (p.Gly669Val)
c.1520G>T (p.Gly507Val)
12g.57037597C>GCA385377326MYO1Ac.2006G>C (p.Gly669Ala)
c.1520G>C (p.Gly507Ala)
 COSMIC
12g.57037597C>TCA385377327MYO1Ac.2006G>A (p.Gly669Glu)
c.1520G>A (p.Gly507Glu)
 gnomAD v4
12g.57037598C>ACA385377328MYO1Ac.2005G>T (p.Gly669Trp)
c.1519G>T (p.Gly507Trp)
12g.57037598C=CA2038684569MYO1Ac.2005G= (p.Gly669=)
c.1519G= (p.Gly507=)
12g.57037598C>GCA385377329MYO1Ac.2005G>C (p.Gly669Arg)
c.1519G>C (p.Gly507Arg)
12g.57037598C>TCA237699639MYO1Ac.2005G>A (p.Gly669Arg)
c.1519G>A (p.Gly507Arg)
 dbSNP gnomAD v3 gnomAD v4
12g.57037599C>ACA480384524MYO1Ac.2004G>T (p.Ser668=)
c.1518G>T (p.Ser506=)
 gnomAD v4
12g.57037599C=CA2038684574MYO1Ac.2004G= (p.Ser668=)
c.1518G= (p.Ser506=)
12g.57037599C>GCA237699654MYO1Ac.2004G>C (p.Ser668=)
c.1518G>C (p.Ser506=)
 dbSNP gnomAD v2 gnomAD v4
12g.57037599C>TCA6639904MYO1Ac.2004G>A (p.Ser668=)
c.1518G>A (p.Ser506=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.57037599_57037600delinsCGCA2038684576MYO1Ac.2003_2004delinsCG (p.Ser668=)
c.1517_1518delinsCG (p.Ser506=)
12g.57037600delCA2038684579MYO1Ac.2003del (p.Ser668TrpfsTer28)
c.1517del (p.Ser506TrpfsTer28)
 dbSNP gnomAD v4
12g.57037600G>ACA6639905MYO1Ac.2003C>T (p.Ser668Leu)
c.1517C>T (p.Ser506Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.57037600G>CCA385377331MYO1Ac.2003C>G (p.Ser668Trp)
c.1517C>G (p.Ser506Trp)
12g.57037600G=CA2038684578MYO1Ac.2003C= (p.Ser668=)
c.1517C= (p.Ser506=)
12g.57037600G>TCA385377330MYO1Ac.2003C>A (p.Ser668Ter)
c.1517C>A (p.Ser506Ter)
 dbSNP gnomAD v2
12g.57037601A>CCA385377332MYO1Ac.2002T>G (p.Ser668Ala)
c.1516T>G (p.Ser506Ala)
12g.57037601A>GCA385377333MYO1Ac.2002T>C (p.Ser668Pro)
c.1516T>C (p.Ser506Pro)
12g.57037601A>TCA385377334MYO1Ac.2002T>A (p.Ser668Thr)
c.1516T>A (p.Ser506Thr)
12g.57037602G>ACA480384530MYO1Ac.2001C>T (p.Ser667=)
c.1515C>T (p.Ser505=)
12g.57037602G>CCA480384535MYO1Ac.2001C>G (p.Ser667=)
c.1515C>G (p.Ser505=)
12g.57037602G=CA2038684581MYO1Ac.2001C= (p.Ser667=)
c.1515C= (p.Ser505=)
12g.57037602G>TCA6639906MYO1Ac.2001C>A (p.Ser667=)
c.1515C>A (p.Ser505=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.57037603G>ACA385377335MYO1Ac.2000C>T (p.Ser667Phe)
c.1514C>T (p.Ser505Phe)
12g.57037603G>CCA385377336MYO1Ac.2000C>G (p.Ser667Cys)
c.1514C>G (p.Ser505Cys)
 gnomAD v4
12g.57037603G>TCA385377337MYO1Ac.2000C>A (p.Ser667Tyr)
c.1514C>A (p.Ser505Tyr)
12g.57037604A=CA2038684582MYO1Ac.1999T= (p.Ser667=)
c.1513T= (p.Ser505=)
12g.57037604A>CCA385377338MYO1Ac.1999T>G (p.Ser667Ala)
c.1513T>G (p.Ser505Ala)
12g.57037604A>GCA385377339MYO1Ac.1999T>C (p.Ser667Pro)
c.1513T>C (p.Ser505Pro)
12g.57037604A>TCA6639907MYO1Ac.1999T>A (p.Ser667Thr)
c.1513T>A (p.Ser505Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.57037605C>ACA385377340MYO1Ac.1998G>T (p.Met666Ile)
c.1512G>T (p.Met504Ile)
 gnomAD v4
12g.57037605C>GCA385377341MYO1Ac.1998G>C (p.Met666Ile)
c.1512G>C (p.Met504Ile)
12g.57037605C>TCA385377342MYO1Ac.1998G>A (p.Met666Ile)
c.1512G>A (p.Met504Ile)
12g.57037606A=CA2038684584MYO1Ac.1997T= (p.Met666=)
c.1511T= (p.Met504=)
12g.57037606A>CCA385377343MYO1Ac.1997T>G (p.Met666Arg)
c.1511T>G (p.Met504Arg)
12g.57037606A>GCA385377345MYO1Ac.1997T>C (p.Met666Thr)
c.1511T>C (p.Met504Thr)
12g.57037606A>TCA385377344MYO1Ac.1997T>A (p.Met666Lys)
c.1511T>A (p.Met504Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.57037607T>ACA385377346MYO1Ac.1996A>T (p.Met666Leu)
c.1510A>T (p.Met504Leu)
 dbSNP gnomAD v3 gnomAD v4
12g.57037607T>CCA385377348MYO1Ac.1996A>G (p.Met666Val)
c.1510A>G (p.Met504Val)
 ClinVar dbSNP gnomAD v4
12g.57037607T>GCA385377347MYO1Ac.1996A>C (p.Met666Leu)
c.1510A>C (p.Met504Leu)
12g.57037607T=CA2038684587MYO1Ac.1996A= (p.Met666=)
c.1510A= (p.Met504=)
12g.57037608G>ACA480384540MYO1Ac.1995C>T (p.Ser665=)
c.1509C>T (p.Ser503=)
12g.57037608G>CCA385377349MYO1Ac.1995C>G (p.Ser665Arg)
c.1509C>G (p.Ser503Arg)
12g.57037608G>TCA385377350MYO1Ac.1995C>A (p.Ser665Arg)
c.1509C>A (p.Ser503Arg)
12g.57037609C>ACA385377351MYO1Ac.1994G>T (p.Ser665Ile)
c.1508G>T (p.Ser503Ile)
12g.57037609C>GCA385377352MYO1Ac.1994G>C (p.Ser665Thr)
c.1508G>C (p.Ser503Thr)
12g.57037609C>TCA385377353MYO1Ac.1994G>A (p.Ser665Asn)
c.1508G>A (p.Ser503Asn)
 ClinVar gnomAD v4
12g.57037610T>ACA385377354MYO1Ac.1993A>T (p.Ser665Cys)
c.1507A>T (p.Ser503Cys)
12g.57037610T>CCA385377355MYO1Ac.1993A>G (p.Ser665Gly)
c.1507A>G (p.Ser503Gly)
12g.57037610T>GCA385377356MYO1Ac.1993A>C (p.Ser665Arg)
c.1507A>C (p.Ser503Arg)
12g.57037611C>ACA480384546MYO1Ac.1992G>T (p.Leu664=)
c.1506G>T (p.Leu502=)
12g.57037611C>GCA480384548MYO1Ac.1992G>C (p.Leu664=)
c.1506G>C (p.Leu502=)
12g.57037611C>TCA480384549MYO1Ac.1992G>A (p.Leu664=)
c.1506G>A (p.Leu502=)
12g.57037612A=CA2038684590MYO1Ac.1991T= (p.Leu664=)
c.1505T= (p.Leu502=)
12g.57037612A>CCA385377357MYO1Ac.1991T>G (p.Leu664Arg)
c.1505T>G (p.Leu502Arg)
12g.57037612A>GCA6639908MYO1Ac.1991T>C (p.Leu664Pro)
c.1505T>C (p.Leu502Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.57037612A>TCA385377358MYO1Ac.1991T>A (p.Leu664Gln)
c.1505T>A (p.Leu502Gln)
12g.57037613G>ACA480384551MYO1Ac.1990C>T (p.Leu664=)
c.1504C>T (p.Leu502=)
12g.57037613G>CCA385377359MYO1Ac.1990C>G (p.Leu664Val)
c.1504C>G (p.Leu502Val)
12g.57037613G>TCA385377360MYO1Ac.1990C>A (p.Leu664Met)
c.1504C>A (p.Leu502Met)
12g.57037614C>ACA385377362MYO1Ac.1989G>T (p.Glu663Asp)
c.1503G>T (p.Glu501Asp)
12g.57037614C=CA2038684593MYO1Ac.1989G= (p.Glu663=)
c.1503G= (p.Glu501=)
12g.57037614C>GCA385377361MYO1Ac.1989G>C (p.Glu663Asp)
c.1503G>C (p.Glu501Asp)
12g.57037614C>TCA480384553MYO1Ac.1989G>A (p.Glu663=)
c.1503G>A (p.Glu501=)
 dbSNP gnomAD v2 gnomAD v4
12g.57037615T>ACA385377363MYO1Ac.1988A>T (p.Glu663Val)
c.1502A>T (p.Glu501Val)
 dbSNP gnomAD v3 gnomAD v4
12g.57037615T>CCA385377364MYO1Ac.1988A>G (p.Glu663Gly)
c.1502A>G (p.Glu501Gly)
12g.57037615T>GCA385377365MYO1Ac.1988A>C (p.Glu663Ala)
c.1502A>C (p.Glu501Ala)
12g.57037615T=CA2038684595MYO1Ac.1988A= (p.Glu663=)
c.1502A= (p.Glu501=)
12g.57037615_57037616delinsGGCA645570188MYO1Ac.1987_1988delinsCC (p.Glu663Pro)
c.1501_1502delinsCC (p.Glu501Pro)
 COSMIC
12g.57037616C>ACA385377366MYO1Ac.1987G>T (p.Glu663Ter)
c.1501G>T (p.Glu501Ter)
12g.57037616C=CA2038684597MYO1Ac.1987G= (p.Glu663=)
c.1501G= (p.Glu501=)
12g.57037616C>GCA385377367MYO1Ac.1987G>C (p.Glu663Gln)
c.1501G>C (p.Glu501Gln)
 gnomAD v4
12g.57037616C>TCA385377368MYO1Ac.1987G>A (p.Glu663Lys)
c.1501G>A (p.Glu501Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.57037620dupCA2796128272MYO1Ac.1987dup (p.Glu663GlyfsTer19)
c.1501dup (p.Glu501GlyfsTer19)
12g.57037617C>ACA480384556MYO1Ac.1986G>T (p.Gly662=)
c.1500G>T (p.Gly500=)
12g.57037617C>GCA480384559MYO1Ac.1986G>C (p.Gly662=)
c.1500G>C (p.Gly500=)
12g.57037617C>TCA480384558MYO1Ac.1986G>A (p.Gly662=)
c.1500G>A (p.Gly500=)
 COSMIC
12g.57037618C>ACA385377369MYO1Ac.1985G>T (p.Gly662Val)
c.1499G>T (p.Gly500Val)
12g.57037618C=CA2038684600MYO1Ac.1985G= (p.Gly662=)
c.1499G= (p.Gly500=)
12g.57037618C>GCA385377370MYO1Ac.1985G>C (p.Gly662Ala)
c.1499G>C (p.Gly500Ala)
12g.57037618C>TCA136002MYO1Ac.1985G>A (p.Gly662Glu)
c.1499G>A (p.Gly500Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.57037619C>ACA385377371MYO1Ac.1984G>T (p.Gly662Trp)
c.1498G>T (p.Gly500Trp)
12g.57037619C>GCA385377372MYO1Ac.1984G>C (p.Gly662Arg)
c.1498G>C (p.Gly500Arg)
12g.57037619C>TCA385377373MYO1Ac.1984G>A (p.Gly662Arg)
c.1498G>A (p.Gly500Arg)

Number of alleles fetched