Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.15750173A>CCA394868878MYH11c.2023T>G (p.Phe675Val)
c.2044T>G (p.Phe682Val)
c.*206T>G (n.*206T>G)
n.2445T>G
16g.15750173A>GCA394868880MYH11c.2023T>C (p.Phe675Leu)
c.2044T>C (p.Phe682Leu)
c.*206T>C (n.*206T>C)
n.2445T>C
16g.15750173A>TCA394868881MYH11c.2023T>A (p.Phe675Ile)
c.2044T>A (p.Phe682Ile)
c.*206T>A (n.*206T>A)
n.2445T>A
16g.15750174G>ACA493792808MYH11c.2022C>T (p.Asn674=)
c.2043C>T (p.Asn681=)
c.*205C>T (n.*205C>T)
n.2444C>T
dbSNP gnomAD v4
16g.15750174G>CCA394868882MYH11c.2022C>G (p.Asn674Lys)
c.2043C>G (p.Asn681Lys)
c.*205C>G (n.*205C>G)
n.2444C>G
16g.15750174G=CA2209930407MYH11c.2022C= (p.Asn674=)
c.2043C= (p.Asn681=)
c.*205C= (n.*205C=)
n.2444C=
16g.15750174G>TCA394868884MYH11c.2022C>A (p.Asn674Lys)
c.2043C>A (p.Asn681Lys)
c.*205C>A (n.*205C>A)
n.2444C>A
16g.15750175T>ACA394868886MYH11c.2021A>T (p.Asn674Ile)
c.2042A>T (p.Asn681Ile)
c.*204A>T (n.*204A>T)
n.2443A>T
16g.15750175T>CCA394868887MYH11c.2021A>G (p.Asn674Ser)
c.2042A>G (p.Asn681Ser)
c.*204A>G (n.*204A>G)
n.2443A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.15750175T>GCA394868888MYH11c.2021A>C (p.Asn674Thr)
c.2042A>C (p.Asn681Thr)
c.*204A>C (n.*204A>C)
n.2443A>C
16g.15750175T=CA2209930408MYH11c.2021A= (p.Asn674=)
c.2042A= (p.Asn681=)
c.*204A= (n.*204A=)
n.2443A=
16g.15750176T>ACA394868890MYH11c.2020A>T (p.Asn674Tyr)
c.2041A>T (p.Asn681Tyr)
c.*203A>T (n.*203A>T)
n.2442A>T
16g.15750176T>CCA394868893MYH11c.2020A>G (p.Asn674Asp)
c.2041A>G (p.Asn681Asp)
c.*203A>G (n.*203A>G)
n.2442A>G
16g.15750176T>GCA394868894MYH11c.2020A>C (p.Asn674His)
c.2041A>C (p.Asn681His)
c.*203A>C (n.*203A>C)
n.2442A>C
gnomAD v4
16g.15750177G>ACA493792810MYH11c.2019C>T (p.Pro673=)
c.2040C>T (p.Pro680=)
c.*202C>T (n.*202C>T)
n.2441C>T
16g.15750177G>CCA493792812MYH11c.2019C>G (p.Pro673=)
c.2040C>G (p.Pro680=)
c.*202C>G (n.*202C>G)
n.2441C>G
16g.15750177G>TCA493792814MYH11c.2019C>A (p.Pro673=)
c.2040C>A (p.Pro680=)
c.*202C>A (n.*202C>A)
n.2441C>A
ClinVar gnomAD v4
16g.15750178G>ACA394868899MYH11c.2018C>T (p.Pro673Leu)
c.2039C>T (p.Pro680Leu)
c.*201C>T (n.*201C>T)
n.2440C>T
16g.15750178G>CCA394868898MYH11c.2018C>G (p.Pro673Arg)
c.2039C>G (p.Pro680Arg)
c.*201C>G (n.*201C>G)
n.2440C>G
16g.15750178G>TCA394868896MYH11c.2018C>A (p.Pro673His)
c.2039C>A (p.Pro680His)
c.*201C>A (n.*201C>A)
n.2440C>A
gnomAD v4
16g.15750179G>ACA394868900MYH11c.2017C>T (p.Pro673Ser)
c.2038C>T (p.Pro680Ser)
c.*200C>T (n.*200C>T)
n.2439C>T
gnomAD v4
16g.15750179G>CCA394868902MYH11c.2017C>G (p.Pro673Ala)
c.2038C>G (p.Pro680Ala)
c.*200C>G (n.*200C>G)
n.2439C>G
ClinVar dbSNP
16g.15750179G=CA2209930409MYH11c.2017C= (p.Pro673=)
c.2038C= (p.Pro680=)
c.*200C= (n.*200C=)
n.2439C=
16g.15750179G>TCA394868904MYH11c.2017C>A (p.Pro673Thr)
c.2038C>A (p.Pro680Thr)
c.*200C>A (n.*200C>A)
n.2439C>A
16g.15750180C>ACA493792815MYH11c.2016G>T (p.Thr672=)
c.2037G>T (p.Thr679=)
c.*199G>T (n.*199G>T)
n.2438G>T
dbSNP gnomAD v2
16g.15750180C=CA2209930410MYH11c.2016G= (p.Thr672=)
c.2037G= (p.Thr679=)
c.*199G= (n.*199G=)
n.2438G=
16g.15750180C>GCA493792817MYH11c.2016G>C (p.Thr672=)
c.2037G>C (p.Thr679=)
c.*199G>C (n.*199G>C)
n.2438G>C
16g.15750180C>TCA7922449MYH11c.2016G>A (p.Thr672=)
c.2037G>A (p.Thr679=)
c.*199G>A (n.*199G>A)
n.2438G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.15750181G>ACA7922450MYH11c.2015C>T (p.Thr672Met)
c.2036C>T (p.Thr679Met)
c.*198C>T (n.*198C>T)
n.2437C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.15750181G>CCA394868906MYH11c.2015C>G (p.Thr672Arg)
c.2036C>G (p.Thr679Arg)
c.*198C>G (n.*198C>G)
n.2437C>G
16g.15750181G=CA2209930411MYH11c.2015C= (p.Thr672=)
c.2036C= (p.Thr679=)
c.*198C= (n.*198C=)
n.2437C=
16g.15750181G>TCA394868907MYH11c.2015C>A (p.Thr672Lys)
c.2036C>A (p.Thr679Lys)
c.*198C>A (n.*198C>A)
n.2437C>A
dbSNP
16g.15750182T>ACA394868910MYH11c.2014A>T (p.Thr672Ser)
c.2035A>T (p.Thr679Ser)
c.*197A>T (n.*197A>T)
n.2436A>T
16g.15750182T>CCA394868911MYH11c.2014A>G (p.Thr672Ala)
c.2035A>G (p.Thr679Ala)
c.*197A>G (n.*197A>G)
n.2436A>G
16g.15750182T>GCA394868913MYH11c.2014A>C (p.Thr672Pro)
c.2035A>C (p.Thr679Pro)
c.*197A>C (n.*197A>C)
n.2436A>C
16g.15750183G>ACA7922451MYH11c.2013C>T (p.Thr671=)
c.2034C>T (p.Thr678=)
c.*196C>T (n.*196C>T)
n.2435C>T
dbSNP ExAC gnomAD v2 gnomAD v4
16g.15750183G>CCA493792818MYH11c.2013C>G (p.Thr671=)
c.2034C>G (p.Thr678=)
c.*196C>G (n.*196C>G)
n.2435C>G
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.15750183G=CA2209930412MYH11c.2013C= (p.Thr671=)
c.2034C= (p.Thr678=)
c.*196C= (n.*196C=)
n.2435C=
16g.15750183G>TCA493792820MYH11c.2013C>A (p.Thr671=)
c.2034C>A (p.Thr678=)
c.*196C>A (n.*196C>A)
n.2435C>A
16g.15750184G>ACA394868918MYH11c.2012C>T (p.Thr671Ile)
c.2033C>T (p.Thr678Ile)
c.*195C>T (n.*195C>T)
n.2434C>T
ClinVar
16g.15750184G>CCA394868917MYH11c.2012C>G (p.Thr671Ser)
c.2033C>G (p.Thr678Ser)
c.*195C>G (n.*195C>G)
n.2434C>G
dbSNP
16g.15750184G=CA2209930413MYH11c.2012C= (p.Thr671=)
c.2033C= (p.Thr678=)
c.*195C= (n.*195C=)
n.2434C=
16g.15750184G>TCA394868916MYH11c.2012C>A (p.Thr671Asn)
c.2033C>A (p.Thr678Asn)
c.*195C>A (n.*195C>A)
n.2434C>A
gnomAD v4
16g.15750185T>ACA394868919MYH11c.2011A>T (p.Thr671Ser)
c.2032A>T (p.Thr678Ser)
c.*194A>T (n.*194A>T)
n.2433A>T
16g.15750185T>CCA394868921MYH11c.2011A>G (p.Thr671Ala)
c.2032A>G (p.Thr678Ala)
c.*194A>G (n.*194A>G)
n.2433A>G
dbSNP gnomAD v2 gnomAD v4
16g.15750185T>GCA394868923MYH11c.2011A>C (p.Thr671Pro)
c.2032A>C (p.Thr678Pro)
c.*194A>C (n.*194A>C)
n.2433A>C
16g.15750185T=CA2209930414MYH11c.2011A= (p.Thr671=)
c.2032A= (p.Thr678=)
c.*194A= (n.*194A=)
n.2433A=
16g.15750186G>ACA7922452MYH11c.2010C>T (p.Asn670=)
c.2031C>T (p.Asn677=)
c.*193C>T (n.*193C>T)
n.2432C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.15750186G>CCA394868925MYH11c.2010C>G (p.Asn670Lys)
c.2031C>G (p.Asn677Lys)
c.*193C>G (n.*193C>G)
n.2432C>G
16g.15750186G=CA2209930415MYH11c.2010C= (p.Asn670=)
c.2031C= (p.Asn677=)
c.*193C= (n.*193C=)
n.2432C=
16g.15750186G>TCA394868926MYH11c.2010C>A (p.Asn670Lys)
c.2031C>A (p.Asn677Lys)
c.*193C>A (n.*193C>A)
n.2432C>A
16g.15750187T>ACA394868927MYH11c.2009A>T (p.Asn670Ile)
c.2030A>T (p.Asn677Ile)
c.*192A>T (n.*192A>T)
n.2431A>T
16g.15750187T>CCA394868928MYH11c.2009A>G (p.Asn670Ser)
c.2030A>G (p.Asn677Ser)
c.*192A>G (n.*192A>G)
n.2431A>G
16g.15750187T>GCA394868929MYH11c.2009A>C (p.Asn670Thr)
c.2030A>C (p.Asn677Thr)
c.*192A>C (n.*192A>C)
n.2431A>C
16g.15750188T>ACA394868930MYH11c.2008A>T (p.Asn670Tyr)
c.2029A>T (p.Asn677Tyr)
c.*191A>T (n.*191A>T)
n.2430A>T
16g.15750188T>CCA394868931MYH11c.2008A>G (p.Asn670Asp)
c.2029A>G (p.Asn677Asp)
c.*191A>G (n.*191A>G)
n.2430A>G
16g.15750188T>GCA394868932MYH11c.2008A>C (p.Asn670His)
c.2029A>C (p.Asn677His)
c.*191A>C (n.*191A>C)
n.2430A>C
16g.15750189G>ACA493792822MYH11c.2007C>T (p.Arg669=)
c.2028C>T (p.Arg676=)
c.*190C>T (n.*190C>T)
n.2429C>T
16g.15750189G>CCA493792823MYH11c.2007C>G (p.Arg669=)
c.2028C>G (p.Arg676=)
c.*190C>G (n.*190C>G)
n.2429C>G
16g.15750189G>TCA493792825MYH11c.2007C>A (p.Arg669=)
c.2028C>A (p.Arg676=)
c.*190C>A (n.*190C>A)
n.2429C>A
16g.15750189dupCA2839399371MYH11c.2007dup (p.Asn670GlnfsTer?)
c.2028dup (p.Asn677GlnfsTer?)
c.*190dup (n.*190dup)
n.2429dup
16g.15750190C>ACA7922453MYH11c.2006G>T (p.Arg669Leu)
c.2027G>T (p.Arg676Leu)
c.*189G>T (n.*189G>T)
n.2428G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.15750190C=CA2209930416MYH11c.2006G= (p.Arg669=)
c.2027G= (p.Arg676=)
c.*189G= (n.*189G=)
n.2428G=
16g.15750190C>GCA394868933MYH11c.2006G>C (p.Arg669Pro)
c.2027G>C (p.Arg676Pro)
c.*189G>C (n.*189G>C)
n.2428G>C
16g.15750190C>TCA7922454MYH11c.2006G>A (p.Arg669His)
c.2027G>A (p.Arg676His)
c.*189G>A (n.*189G>A)
n.2428G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
16g.15750191G>ACA211699MYH11c.2005C>T (p.Arg669Cys)
c.2026C>T (p.Arg676Cys)
c.*188C>T (n.*188C>T)
n.2427C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
16g.15750191G>CCA394868934MYH11c.2005C>G (p.Arg669Gly)
c.2026C>G (p.Arg676Gly)
c.*188C>G (n.*188C>G)
n.2427C>G
16g.15750191G=CA2209930417MYH11c.2005C= (p.Arg669=)
c.2026C= (p.Arg676=)
c.*188C= (n.*188C=)
n.2427C=
16g.15750191G>TCA7922455MYH11c.2005C>A (p.Arg669Ser)
c.2026C>A (p.Arg676Ser)
c.*188C>A (n.*188C>A)
n.2427C>A
dbSNP ExAC gnomAD v2
16g.15750192T>ACA493792826MYH11c.2004A>T (p.Leu668=)
c.2025A>T (p.Leu675=)
c.*187A>T (n.*187A>T)
n.2426A>T
16g.15750192T>CCA493792828MYH11c.2004A>G (p.Leu668=)
c.2025A>G (p.Leu675=)
c.*187A>G (n.*187A>G)
n.2426A>G
dbSNP
16g.15750192T>GCA493792829MYH11c.2004A>C (p.Leu668=)
c.2025A>C (p.Leu675=)
c.*187A>C (n.*187A>C)
n.2426A>C
16g.15750193A>CCA394868935MYH11c.2003T>G (p.Leu668Arg)
c.2024T>G (p.Leu675Arg)
c.*186T>G (n.*186T>G)
n.2425T>G
16g.15750193A>GCA394868936MYH11c.2003T>C (p.Leu668Pro)
c.2024T>C (p.Leu675Pro)
c.*186T>C (n.*186T>C)
n.2425T>C
16g.15750193A>TCA394868937MYH11c.2003T>A (p.Leu668Gln)
c.2024T>A (p.Leu675Gln)
c.*186T>A (n.*186T>A)
n.2425T>A
16g.15750194G>ACA493792830MYH11c.2002C>T (p.Leu668=)
c.2023C>T (p.Leu675=)
c.*185C>T (n.*185C>T)
n.2424C>T
16g.15750194G>CCA394868938MYH11c.2002C>G (p.Leu668Val)
c.2023C>G (p.Leu675Val)
c.*185C>G (n.*185C>G)
n.2424C>G
16g.15750194G>TCA394868939MYH11c.2002C>A (p.Leu668Ile)
c.2023C>A (p.Leu675Ile)
c.*185C>A (n.*185C>A)
n.2424C>A
16g.15750195C>ACA493792833MYH11c.2001G>T (p.Thr667=)
c.2022G>T (p.Thr674=)
c.*184G>T (n.*184G>T)
n.2423G>T
16g.15750195C=CA2209930418MYH11c.2001G= (p.Thr667=)
c.2022G= (p.Thr674=)
c.*184G= (n.*184G=)
n.2423G=
16g.15750195C>GCA493792832MYH11c.2001G>C (p.Thr667=)
c.2022G>C (p.Thr674=)
c.*184G>C (n.*184G>C)
n.2423G>C
16g.15750195C>TCA7922456MYH11c.2001G>A (p.Thr667=)
c.2022G>A (p.Thr674=)
c.*184G>A (n.*184G>A)
n.2423G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.15750196G>ACA7922457MYH11c.2000C>T (p.Thr667Met)
c.2021C>T (p.Thr674Met)
c.*183C>T (n.*183C>T)
n.2422C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.15750196G>CCA394868940MYH11c.2000C>G (p.Thr667Arg)
c.2021C>G (p.Thr674Arg)
c.*183C>G (n.*183C>G)
n.2422C>G
16g.15750196G=CA2209930419MYH11c.2000C= (p.Thr667=)
c.2021C= (p.Thr674=)
c.*183C= (n.*183C=)
n.2422C=
16g.15750196G>TCA394868941MYH11c.2000C>A (p.Thr667Lys)
c.2021C>A (p.Thr674Lys)
c.*183C>A (n.*183C>A)
n.2422C>A
16g.15750197T>ACA394868944MYH11c.1999A>T (p.Thr667Ser)
c.2020A>T (p.Thr674Ser)
c.*182A>T (n.*182A>T)
n.2421A>T
16g.15750197T>CCA394868943MYH11c.1999A>G (p.Thr667Ala)
c.2020A>G (p.Thr674Ala)
c.*182A>G (n.*182A>G)
n.2421A>G
16g.15750197T>GCA394868942MYH11c.1999A>C (p.Thr667Pro)
c.2020A>C (p.Thr674Pro)
c.*182A>C (n.*182A>C)
n.2421A>C
16g.15750198G>ACA493792834MYH11c.1998C>T (p.Thr666=)
c.2019C>T (p.Thr673=)
c.*181C>T (n.*181C>T)
n.2420C>T
dbSNP gnomAD v4
16g.15750198G>CCA493792835MYH11c.1998C>G (p.Thr666=)
c.2019C>G (p.Thr673=)
c.*181C>G (n.*181C>G)
n.2420C>G
16g.15750198G=CA2209930420MYH11c.1998C= (p.Thr666=)
c.2019C= (p.Thr673=)
c.*181C= (n.*181C=)
n.2420C=
16g.15750198G>TCA493792836MYH11c.1998C>A (p.Thr666=)
c.2019C>A (p.Thr673=)
c.*181C>A (n.*181C>A)
n.2420C>A
16g.15750199G>ACA394868945MYH11c.1997C>T (p.Thr666Ile)
c.2018C>T (p.Thr673Ile)
c.*180C>T (n.*180C>T)
n.2419C>T
gnomAD v4 COSMIC COSMIC
16g.15750199G>CCA394868946MYH11c.1997C>G (p.Thr666Ser)
c.2018C>G (p.Thr673Ser)
c.*180C>G (n.*180C>G)
n.2419C>G
16g.15750199G>TCA394868947MYH11c.1997C>A (p.Thr666Asn)
c.2018C>A (p.Thr673Asn)
c.*180C>A (n.*180C>A)
n.2419C>A
16g.15750200T>ACA394868948MYH11c.1996A>T (p.Thr666Ser)
c.2017A>T (p.Thr673Ser)
c.*179A>T (n.*179A>T)
n.2418A>T
16g.15750200T>CCA394868949MYH11c.1996A>G (p.Thr666Ala)
c.2017A>G (p.Thr673Ala)
c.*179A>G (n.*179A>G)
n.2418A>G
16g.15750200T>GCA394868950MYH11c.1996A>C (p.Thr666Pro)
c.2017A>C (p.Thr673Pro)
c.*179A>C (n.*179A>C)
n.2418A>C
16g.15750201C>ACA394868953MYH11c.1995G>T (p.Met665Ile)
c.2016G>T (p.Met672Ile)
c.*178G>T (n.*178G>T)
n.2417G>T
COSMIC COSMIC
16g.15750201C=CA2209930421MYH11c.1995G= (p.Met665=)
c.2016G= (p.Met672=)
c.*178G= (n.*178G=)
n.2417G=
16g.15750201C>GCA394868952MYH11c.1995G>C (p.Met665Ile)
c.2016G>C (p.Met672Ile)
c.*178G>C (n.*178G>C)
n.2417G>C
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.15750201C>TCA394868951MYH11c.1995G>A (p.Met665Ile)
c.2016G>A (p.Met672Ile)
c.*178G>A (n.*178G>A)
n.2417G>A
gnomAD v4
16g.15750202A>CCA394868954MYH11c.1994T>G (p.Met665Arg)
c.2015T>G (p.Met672Arg)
c.*177T>G (n.*177T>G)
n.2416T>G
gnomAD v4
16g.15750202A>GCA394868955MYH11c.1994T>C (p.Met665Thr)
c.2015T>C (p.Met672Thr)
c.*177T>C (n.*177T>C)
n.2416T>C
gnomAD v4
16g.15750202A>TCA394868956MYH11c.1994T>A (p.Met665Lys)
c.2015T>A (p.Met672Lys)
c.*177T>A (n.*177T>A)
n.2416T>A
16g.15750203T>ACA394868957MYH11c.1993A>T (p.Met665Leu)
c.2014A>T (p.Met672Leu)
c.*176A>T (n.*176A>T)
n.2415A>T
16g.15750203T>CCA394868958MYH11c.1993A>G (p.Met665Val)
c.2014A>G (p.Met672Val)
c.*176A>G (n.*176A>G)
n.2415A>G
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.15750203T>GCA394868959MYH11c.1993A>C (p.Met665Leu)
c.2014A>C (p.Met672Leu)
c.*176A>C (n.*176A>C)
n.2415A>C
16g.15750203T=CA2209930422MYH11c.1993A= (p.Met665=)
c.2014A= (p.Met672=)
c.*176A= (n.*176A=)
n.2415A=
16g.15750204C>ACA493792839MYH11c.1992G>T (p.Leu664=)
c.2013G>T (p.Leu671=)
c.*175G>T (n.*175G>T)
n.2414G>T
16g.15750204C=CA2209930423MYH11c.1992G= (p.Leu664=)
c.2013G= (p.Leu671=)
c.*175G= (n.*175G=)
n.2414G=
16g.15750204C>GCA493792840MYH11c.1992G>C (p.Leu664=)
c.2013G>C (p.Leu671=)
c.*175G>C (n.*175G>C)
n.2414G>C
16g.15750204C>TCA493792841MYH11c.1992G>A (p.Leu664=)
c.2013G>A (p.Leu671=)
c.*175G>A (n.*175G>A)
n.2414G>A
ClinVar dbSNP gnomAD v4
16g.15750205A>CCA394868960MYH11c.1991T>G (p.Leu664Arg)
c.2012T>G (p.Leu671Arg)
c.*174T>G (n.*174T>G)
n.2413T>G
16g.15750205A>GCA394868962MYH11c.1991T>C (p.Leu664Pro)
c.2012T>C (p.Leu671Pro)
c.*174T>C (n.*174T>C)
n.2413T>C
16g.15750205A>TCA394868961MYH11c.1991T>A (p.Leu664Gln)
c.2012T>A (p.Leu671Gln)
c.*174T>A (n.*174T>A)
n.2413T>A
16g.15750206delCA2806025577MYH11c.1990del (p.Leu664Ter)
c.2011del (p.Leu671Ter)
c.*173del (n.*173del)
n.2412del
16g.15750206G>ACA493792842MYH11c.1990C>T (p.Leu664=)
c.2011C>T (p.Leu671=)
c.*173C>T (n.*173C>T)
n.2412C>T
ClinVar dbSNP gnomAD v4
16g.15750206G>CCA7922458MYH11c.1990C>G (p.Leu664Val)
c.2011C>G (p.Leu671Val)
c.*173C>G (n.*173C>G)
n.2412C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.15750206G=CA2209930424MYH11c.1990C= (p.Leu664=)
c.2011C= (p.Leu671=)
c.*173C= (n.*173C=)
n.2412C=
16g.15750206G>TCA394868963MYH11c.1990C>A (p.Leu664Met)
c.2011C>A (p.Leu671Met)
c.*173C>A (n.*173C>A)
n.2412C>A
16g.15750207C>ACA394868964MYH11c.1989G>T (p.Lys663Asn)
c.2010G>T (p.Lys670Asn)
c.*172G>T (n.*172G>T)
n.2411G>T
16g.15750207C=CA2209930425MYH11c.1989G= (p.Lys663=)
c.2010G= (p.Lys670=)
c.*172G= (n.*172G=)
n.2411G=
16g.15750207C>GCA394868965MYH11c.1989G>C (p.Lys663Asn)
c.2010G>C (p.Lys670Asn)
c.*172G>C (n.*172G>C)
n.2411G>C
ClinVar
16g.15750207C>TCA7922459MYH11c.1989G>A (p.Lys663=)
c.2010G>A (p.Lys670=)
c.*172G>A (n.*172G>A)
n.2411G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.15750208T>ACA394868966MYH11c.1988A>T (p.Lys663Met)
c.2009A>T (p.Lys670Met)
c.*171A>T (n.*171A>T)
n.2410A>T
16g.15750208T>CCA394868967MYH11c.1988A>G (p.Lys663Arg)
c.2009A>G (p.Lys670Arg)
c.*171A>G (n.*171A>G)
n.2410A>G
16g.15750208T>GCA394868968MYH11c.1988A>C (p.Lys663Thr)
c.2009A>C (p.Lys670Thr)
c.*171A>C (n.*171A>C)
n.2410A>C
16g.15750209T>ACA394868969MYH11c.1987A>T (p.Lys663Ter)
c.2008A>T (p.Lys670Ter)
c.*170A>T (n.*170A>T)
n.2409A>T
16g.15750209T>CCA394868970MYH11c.1987A>G (p.Lys663Glu)
c.2008A>G (p.Lys670Glu)
c.*170A>G (n.*170A>G)
n.2409A>G
16g.15750209T>GCA394868971MYH11c.1987A>C (p.Lys663Gln)
c.2008A>C (p.Lys670Gln)
c.*170A>C (n.*170A>C)
n.2409A>C
16g.15750210G>ACA493792847MYH11c.1986C>T (p.Gly662=)
c.2007C>T (p.Gly669=)
c.*169C>T (n.*169C>T)
n.2408C>T
16g.15750210G>CCA7922460MYH11c.1986C>G (p.Gly662=)
c.2007C>G (p.Gly669=)
c.*169C>G (n.*169C>G)
n.2408C>G
dbSNP ExAC gnomAD v2
16g.15750210G=CA2209930426MYH11c.1986C= (p.Gly662=)
c.2007C= (p.Gly669=)
c.*169C= (n.*169C=)
n.2408C=
16g.15750210G>TCA493792848MYH11c.1986C>A (p.Gly662=)
c.2007C>A (p.Gly669=)
c.*169C>A (n.*169C>A)
n.2408C>A
COSMIC COSMIC
16g.15750211C>ACA394868972MYH11c.1985G>T (p.Gly662Val)
c.2006G>T (p.Gly669Val)
c.*168G>T (n.*168G>T)
n.2407G>T
16g.15750211C>GCA394868974MYH11c.1985G>C (p.Gly662Ala)
c.2006G>C (p.Gly669Ala)
c.*168G>C (n.*168G>C)
n.2407G>C
16g.15750211C>TCA394868973MYH11c.1985G>A (p.Gly662Asp)
c.2006G>A (p.Gly669Asp)
c.*168G>A (n.*168G>A)
n.2407G>A
16g.15750213dupCA2840872628MYH11c.1985dup (p.Lys663GlnfsTer?)
c.2006dup (p.Lys670GlnfsTer?)
c.*168dup (n.*168dup)
n.2407dup
16g.15750212C>ACA394868975MYH11c.1984G>T (p.Gly662Cys)
c.2005G>T (p.Gly669Cys)
c.*167G>T (n.*167G>T)
n.2406G>T
16g.15750212C>GCA394868976MYH11c.1984G>C (p.Gly662Arg)
c.2005G>C (p.Gly669Arg)
c.*167G>C (n.*167G>C)
n.2406G>C
16g.15750212C>TCA394868977MYH11c.1984G>A (p.Gly662Ser)
c.2005G>A (p.Gly669Ser)
c.*167G>A (n.*167G>A)
n.2406G>A
16g.15750213C>ACA493792850MYH11c.1983G>T (p.Leu661=)
c.2004G>T (p.Leu668=)
c.*166G>T (n.*166G>T)
n.2405G>T
dbSNP COSMIC COSMIC
16g.15750213C=CA2209930427MYH11c.1983G= (p.Leu661=)
c.2004G= (p.Leu668=)
c.*166G= (n.*166G=)
n.2405G=
16g.15750213C>GCA493792851MYH11c.1983G>C (p.Leu661=)
c.2004G>C (p.Leu668=)
c.*166G>C (n.*166G>C)
n.2405G>C
gnomAD v4
16g.15750213C>TCA278638569MYH11c.1983G>A (p.Leu661=)
c.2004G>A (p.Leu668=)
c.*166G>A (n.*166G>A)
n.2405G>A
ClinVar dbSNP gnomAD v4
16g.15750214A>CCA394868978MYH11c.1982T>G (p.Leu661Arg)
c.2003T>G (p.Leu668Arg)
c.*165T>G (n.*165T>G)
n.2404T>G
16g.15750214A>GCA394868979MYH11c.1982T>C (p.Leu661Pro)
c.2003T>C (p.Leu668Pro)
c.*165T>C (n.*165T>C)
n.2404T>C
16g.15750214A>TCA394868980MYH11c.1982T>A (p.Leu661Gln)
c.2003T>A (p.Leu668Gln)
c.*165T>A (n.*165T>A)
n.2404T>A
16g.15750215G>ACA493792852MYH11c.1981C>T (p.Leu661=)
c.2002C>T (p.Leu668=)
c.*164C>T (n.*164C>T)
n.2403C>T
ClinVar dbSNP gnomAD v4
16g.15750215G>CCA394868981MYH11c.1981C>G (p.Leu661Val)
c.2002C>G (p.Leu668Val)
c.*164C>G (n.*164C>G)
n.2403C>G
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.15750215G=CA2209930428MYH11c.1981C= (p.Leu661=)
c.2002C= (p.Leu668=)
c.*164C= (n.*164C=)
n.2403C=
16g.15750215G>TCA394868982MYH11c.1981C>A (p.Leu661Met)
c.2002C>A (p.Leu668Met)
c.*164C>A (n.*164C>A)
n.2403C>A
16g.15750216C>ACA394868983MYH11c.1980G>T (p.Gln660His)
c.2001G>T (p.Gln667His)
c.*163G>T (n.*163G>T)
n.2402G>T
16g.15750216C>GCA394868984MYH11c.1980G>C (p.Gln660His)
c.2001G>C (p.Gln667His)
c.*163G>C (n.*163G>C)
n.2402G>C
gnomAD v4
16g.15750216C>TCA493792856MYH11c.1980G>A (p.Gln660=)
c.2001G>A (p.Gln667=)
c.*163G>A (n.*163G>A)
n.2402G>A
16g.15750217T>ACA394868985MYH11c.1979A>T (p.Gln660Leu)
c.2000A>T (p.Gln667Leu)
c.*162A>T (n.*162A>T)
n.2401A>T
16g.15750217T>CCA394868986MYH11c.1979A>G (p.Gln660Arg)
c.2000A>G (p.Gln667Arg)
c.*162A>G (n.*162A>G)
n.2401A>G
16g.15750217T>GCA394868987MYH11c.1979A>C (p.Gln660Pro)
c.2000A>C (p.Gln667Pro)
c.*162A>C (n.*162A>C)
n.2401A>C
16g.15750218G>ACA394868988MYH11c.1978C>T (p.Gln660Ter)
c.1999C>T (p.Gln667Ter)
c.*161C>T (n.*161C>T)
n.2400C>T
16g.15750218G>CCA394868990MYH11c.1978C>G (p.Gln660Glu)
c.1999C>G (p.Gln667Glu)
c.*161C>G (n.*161C>G)
n.2400C>G
16g.15750218G>TCA394868989MYH11c.1978C>A (p.Gln660Lys)
c.1999C>A (p.Gln667Lys)
c.*161C>A (n.*161C>A)
n.2400C>A
16g.15750219C>ACA394868991MYH11c.1977G>T (p.Glu659Asp)
c.1998G>T (p.Glu666Asp)
c.*160G>T (n.*160G>T)
n.2399G>T
16g.15750219C>GCA394868992MYH11c.1977G>C (p.Glu659Asp)
c.1998G>C (p.Glu666Asp)
c.*160G>C (n.*160G>C)
n.2399G>C
16g.15750219C>TCA493792858MYH11c.1977G>A (p.Glu659=)
c.1998G>A (p.Glu666=)
c.*160G>A (n.*160G>A)
n.2399G>A
16g.15750220T>ACA394868993MYH11c.1976A>T (p.Glu659Val)
c.1997A>T (p.Glu666Val)
c.*159A>T (n.*159A>T)
n.2398A>T
16g.15750220T>CCA394868994MYH11c.1976A>G (p.Glu659Gly)
c.1997A>G (p.Glu666Gly)
c.*159A>G (n.*159A>G)
n.2398A>G
16g.15750220T>GCA394868995MYH11c.1976A>C (p.Glu659Ala)
c.1997A>C (p.Glu666Ala)
c.*159A>C (n.*159A>C)
n.2398A>C
16g.15750221C>ACA394868996MYH11c.1975G>T (p.Glu659Ter)
c.1996G>T (p.Glu666Ter)
c.*158G>T (n.*158G>T)
n.2397G>T
16g.15750221C>GCA394868997MYH11c.1975G>C (p.Glu659Gln)
c.1996G>C (p.Glu666Gln)
c.*158G>C (n.*158G>C)
n.2397G>C
16g.15750221C>TCA394868998MYH11c.1975G>A (p.Glu659Lys)
c.1996G>A (p.Glu666Lys)
c.*158G>A (n.*158G>A)
n.2397G>A
16g.15750222C>ACA394868999MYH11c.1974G>T (p.Lys658Asn)
c.1995G>T (p.Lys665Asn)
c.*157G>T (n.*157G>T)
n.2396G>T
16g.15750222C=CA2209930429MYH11c.1974G= (p.Lys658=)
c.1995G= (p.Lys665=)
c.*157G= (n.*157G=)
n.2396G=
16g.15750222C>GCA394869000MYH11c.1974G>C (p.Lys658Asn)
c.1995G>C (p.Lys665Asn)
c.*157G>C (n.*157G>C)
n.2396G>C
16g.15750222C>TCA493792862MYH11c.1974G>A (p.Lys658=)
c.1995G>A (p.Lys665=)
c.*157G>A (n.*157G>A)
n.2396G>A
dbSNP
16g.15750223T>ACA394869003MYH11c.1973A>T (p.Lys658Met)
c.1994A>T (p.Lys665Met)
c.*156A>T (n.*156A>T)
n.2395A>T
16g.15750223T>CCA394869002MYH11c.1973A>G (p.Lys658Arg)
c.1994A>G (p.Lys665Arg)
c.*156A>G (n.*156A>G)
n.2395A>G
16g.15750223T>GCA394869001MYH11c.1973A>C (p.Lys658Thr)
c.1994A>C (p.Lys665Thr)
c.*156A>C (n.*156A>C)
n.2395A>C
16g.15750224T>ACA394869004MYH11c.1972A>T (p.Lys658Ter)
c.1993A>T (p.Lys665Ter)
c.*155A>T (n.*155A>T)
n.2394A>T
16g.15750224T>CCA394869006MYH11c.1972A>G (p.Lys658Glu)
c.1993A>G (p.Lys665Glu)
c.*155A>G (n.*155A>G)
n.2394A>G
16g.15750224T>GCA394869005MYH11c.1972A>C (p.Lys658Gln)
c.1993A>C (p.Lys665Gln)
c.*155A>C (n.*155A>C)
n.2394A>C
16g.15750225G>ACA493792865MYH11c.1971C>T (p.Tyr657=)
c.1992C>T (p.Tyr664=)
c.*154C>T (n.*154C>T)
n.2393C>T
dbSNP gnomAD v3 gnomAD v4
16g.15750225G>CCA394869007MYH11c.1971C>G (p.Tyr657Ter)
c.1992C>G (p.Tyr664Ter)
c.*154C>G (n.*154C>G)
n.2393C>G
16g.15750225G=CA2209930430MYH11c.1971C= (p.Tyr657=)
c.1992C= (p.Tyr664=)
c.*154C= (n.*154C=)
n.2393C=
16g.15750225G>TCA394869008MYH11c.1971C>A (p.Tyr657Ter)
c.1992C>A (p.Tyr664Ter)
c.*154C>A (n.*154C>A)
n.2393C>A
16g.15750226T>ACA394869009MYH11c.1970A>T (p.Tyr657Phe)
c.1991A>T (p.Tyr664Phe)
c.*153A>T (n.*153A>T)
n.2392A>T
16g.15750226T>CCA394869010MYH11c.1970A>G (p.Tyr657Cys)
c.1991A>G (p.Tyr664Cys)
c.*153A>G (n.*153A>G)
n.2392A>G
gnomAD v4
16g.15750226T>GCA394869011MYH11c.1970A>C (p.Tyr657Ser)
c.1991A>C (p.Tyr664Ser)
c.*153A>C (n.*153A>C)
n.2392A>C
16g.15750227A>CCA394869012MYH11c.1969T>G (p.Tyr657Asp)
c.1990T>G (p.Tyr664Asp)
c.*152T>G (n.*152T>G)
n.2391T>G
16g.15750227A>GCA394869013MYH11c.1969T>C (p.Tyr657His)
c.1990T>C (p.Tyr664His)
c.*152T>C (n.*152T>C)
n.2391T>C
16g.15750227A>TCA394869014MYH11c.1969T>A (p.Tyr657Asn)
c.1990T>A (p.Tyr664Asn)
c.*152T>A (n.*152T>A)
n.2391T>A
16g.15750228C>ACA493792866MYH11c.1968G>T (p.Leu656=)
c.1989G>T (p.Leu663=)
c.*151G>T (n.*151G>T)
n.2390G>T
16g.15750228C=CA2209930431MYH11c.1968G= (p.Leu656=)
c.1989G= (p.Leu663=)
c.*151G= (n.*151G=)
n.2390G=
16g.15750228C>GCA493792867MYH11c.1968G>C (p.Leu656=)
c.1989G>C (p.Leu663=)
c.*151G>C (n.*151G>C)
n.2390G>C
16g.15750228C>TCA7922461MYH11c.1968G>A (p.Leu656=)
c.1989G>A (p.Leu663=)
c.*151G>A (n.*151G>A)
n.2390G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.15750229A>CCA394869015MYH11c.1967T>G (p.Leu656Arg)
c.1988T>G (p.Leu663Arg)
c.*150T>G (n.*150T>G)
n.2389T>G
16g.15750229A>GCA394869016MYH11c.1967T>C (p.Leu656Pro)
c.1988T>C (p.Leu663Pro)
c.*150T>C (n.*150T>C)
n.2389T>C
16g.15750229A>TCA394869017MYH11c.1967T>A (p.Leu656Gln)
c.1988T>A (p.Leu663Gln)
c.*150T>A (n.*150T>A)
n.2389T>A
16g.15750230G>ACA493792871MYH11c.1966C>T (p.Leu656=)
c.1987C>T (p.Leu663=)
c.*149C>T (n.*149C>T)
n.2388C>T
dbSNP gnomAD v4
16g.15750230G>CCA394869018MYH11c.1966C>G (p.Leu656Val)
c.1987C>G (p.Leu663Val)
c.*149C>G (n.*149C>G)
n.2388C>G
16g.15750230G=CA2209930432MYH11c.1966C= (p.Leu656=)
c.1987C= (p.Leu663=)
c.*149C= (n.*149C=)
n.2388C=
16g.15750230G>TCA394869019MYH11c.1966C>A (p.Leu656Met)
c.1987C>A (p.Leu663Met)
c.*149C>A (n.*149C>A)
n.2388C>A
16g.15750231C>ACA394869020MYH11c.1965G>T (p.Gln655His)
c.1986G>T (p.Gln662His)
c.*148G>T (n.*148G>T)
n.2387G>T
ClinVar dbSNP gnomAD v4
16g.15750231C=CA2209930433MYH11c.1965G= (p.Gln655=)
c.1986G= (p.Gln662=)
c.*148G= (n.*148G=)
n.2387G=
16g.15750231C>GCA394869021MYH11c.1965G>C (p.Gln655His)
c.1986G>C (p.Gln662His)
c.*148G>C (n.*148G>C)
n.2387G>C
16g.15750231C>TCA493792872MYH11c.1965G>A (p.Gln655=)
c.1986G>A (p.Gln662=)
c.*148G>A (n.*148G>A)
n.2387G>A
16g.15750232T>ACA394869022MYH11c.1964A>T (p.Gln655Leu)
c.1985A>T (p.Gln662Leu)
c.*147A>T (n.*147A>T)
n.2386A>T
16g.15750232T>CCA394869023MYH11c.1964A>G (p.Gln655Arg)
c.1985A>G (p.Gln662Arg)
c.*147A>G (n.*147A>G)
n.2386A>G
16g.15750232T>GCA7922462MYH11c.1964A>C (p.Gln655Pro)
c.1985A>C (p.Gln662Pro)
c.*147A>C (n.*147A>C)
n.2386A>C
dbSNP ExAC gnomAD v2
16g.15750232T=CA2209930434MYH11c.1964A= (p.Gln655=)
c.1985A= (p.Gln662=)
c.*147A= (n.*147A=)
n.2386A=
16g.15750233G>ACA394869024MYH11c.1963C>T (p.Gln655Ter)
c.1984C>T (p.Gln662Ter)
c.*146C>T (n.*146C>T)
n.2385C>T
16g.15750233G>CCA394869025MYH11c.1963C>G (p.Gln655Glu)
c.1984C>G (p.Gln662Glu)
c.*146C>G (n.*146C>G)
n.2385C>G
16g.15750233G>TCA394869026MYH11c.1963C>A (p.Gln655Lys)
c.1984C>A (p.Gln662Lys)
c.*146C>A (n.*146C>A)
n.2385C>A
16g.15750234C>ACA493792874MYH11c.1962G>T (p.Gly654=)
c.1983G>T (p.Gly661=)
c.*145G>T (n.*145G>T)
n.2384G>T
16g.15750234C>GCA493792875MYH11c.1962G>C (p.Gly654=)
c.1983G>C (p.Gly661=)
c.*145G>C (n.*145G>C)
n.2384G>C
16g.15750234C>TCA493792876MYH11c.1962G>A (p.Gly654=)
c.1983G>A (p.Gly661=)
c.*145G>A (n.*145G>A)
n.2384G>A
16g.15750237dupCA2838314401MYH11c.1962dup (p.Gln655AlafsTer?)
c.1983dup (p.Gln662AlafsTer?)
c.*145dup (n.*145dup)
n.2384dup
16g.15750235C>ACA394869027MYH11c.1961G>T (p.Gly654Val)
c.1982G>T (p.Gly661Val)
c.*144G>T (n.*144G>T)
n.2383G>T
16g.15750235C>GCA394869028MYH11c.1961G>C (p.Gly654Ala)
c.1982G>C (p.Gly661Ala)
c.*144G>C (n.*144G>C)
n.2383G>C
16g.15750235C>TCA394869029MYH11c.1961G>A (p.Gly654Glu)
c.1982G>A (p.Gly661Glu)
c.*144G>A (n.*144G>A)
n.2383G>A
16g.15750236C>ACA394869030MYH11c.1960G>T (p.Gly654Trp)
c.1981G>T (p.Gly661Trp)
c.*143G>T (n.*143G>T)
n.2382G>T
dbSNP gnomAD v4
16g.15750236C=CA2209930435MYH11c.1960G= (p.Gly654=)
c.1981G= (p.Gly661=)
c.*143G= (n.*143G=)
n.2382G=
16g.15750236C>GCA394869031MYH11c.1960G>C (p.Gly654Arg)
c.1981G>C (p.Gly661Arg)
c.*143G>C (n.*143G>C)
n.2382G>C
16g.15750236C>TCA394869032MYH11c.1960G>A (p.Gly654Arg)
c.1981G>A (p.Gly661Arg)
c.*143G>A (n.*143G>A)
n.2382G>A
16g.15750237C>ACA493792881MYH11c.1959G>T (p.Val653=)
c.1980G>T (p.Val660=)
c.*142G>T (n.*142G>T)
n.2381G>T
16g.15750237C>GCA493792880MYH11c.1959G>C (p.Val653=)
c.1980G>C (p.Val660=)
c.*142G>C (n.*142G>C)
n.2381G>C
16g.15750237C>TCA493792879MYH11c.1959G>A (p.Val653=)
c.1980G>A (p.Val660=)
c.*142G>A (n.*142G>A)
n.2381G>A
gnomAD v4
16g.15750238A=CA2209930436MYH11c.1958T= (p.Val653=)
c.1979T= (p.Val660=)
c.*141T= (n.*141T=)
n.2380T=
16g.15750238A>CCA394869033MYH11c.1958T>G (p.Val653Gly)
c.1979T>G (p.Val660Gly)
c.*141T>G (n.*141T>G)
n.2380T>G
16g.15750238A>GCA394869034MYH11c.1958T>C (p.Val653Ala)
c.1979T>C (p.Val660Ala)
c.*141T>C (n.*141T>C)
n.2380T>C
dbSNP
16g.15750238A>TCA394869035MYH11c.1958T>A (p.Val653Glu)
c.1979T>A (p.Val660Glu)
c.*141T>A (n.*141T>A)
n.2380T>A
16g.15750239C>ACA394869036MYH11c.1957G>T (p.Val653Leu)
c.1978G>T (p.Val660Leu)
c.*140G>T (n.*140G>T)
n.2379G>T
dbSNP gnomAD v2 gnomAD v4
16g.15750239C=CA2209930437MYH11c.1957G= (p.Val653=)
c.1978G= (p.Val660=)
c.*140G= (n.*140G=)
n.2379G=
16g.15750239C>GCA394869038MYH11c.1957G>C (p.Val653Leu)
c.1978G>C (p.Val660Leu)
c.*140G>C (n.*140G>C)
n.2379G>C
16g.15750239C>TCA394869037MYH11c.1957G>A (p.Val653Met)
c.1978G>A (p.Val660Met)
c.*140G>A (n.*140G>A)
n.2379G>A
16g.15750240T>ACA493792885MYH11c.1956A>T (p.Thr652=)
c.1977A>T (p.Thr659=)
c.*139A>T (n.*139A>T)
n.2378A>T
16g.15750240T>CCA7922463MYH11c.1956A>G (p.Thr652=)
c.1977A>G (p.Thr659=)
c.*139A>G (n.*139A>G)
n.2378A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.15750240T>GCA493792886MYH11c.1956A>C (p.Thr652=)
c.1977A>C (p.Thr659=)
c.*139A>C (n.*139A>C)
n.2378A>C
gnomAD v4
16g.15750240T=CA2209930438MYH11c.1956A= (p.Thr652=)
c.1977A= (p.Thr659=)
c.*139A= (n.*139A=)
n.2378A=
16g.15750241G>ACA394869039MYH11c.1955C>T (p.Thr652Ile)
c.1976C>T (p.Thr659Ile)
c.*138C>T (n.*138C>T)
n.2377C>T
16g.15750241G>CCA394869040MYH11c.1955C>G (p.Thr652Arg)
c.1976C>G (p.Thr659Arg)
c.*138C>G (n.*138C>G)
n.2377C>G
16g.15750241G>TCA394869041MYH11c.1955C>A (p.Thr652Lys)
c.1976C>A (p.Thr659Lys)
c.*138C>A (n.*138C>A)
n.2377C>A
16g.15750242T>ACA394869042MYH11c.1954A>T (p.Thr652Ser)
c.1975A>T (p.Thr659Ser)
c.*137A>T (n.*137A>T)
n.2376A>T
16g.15750242T>CCA394869043MYH11c.1954A>G (p.Thr652Ala)
c.1975A>G (p.Thr659Ala)
c.*137A>G (n.*137A>G)
n.2376A>G
16g.15750242T>GCA394869044MYH11c.1954A>C (p.Thr652Pro)
c.1975A>C (p.Thr659Pro)
c.*137A>C (n.*137A>C)
n.2376A>C
16g.15750243G>ACA493792888MYH11c.1953C>T (p.Arg651=)
c.1974C>T (p.Arg658=)
c.*136C>T (n.*136C>T)
n.2375C>T
ClinVar gnomAD v4
16g.15750243G>CCA493792889MYH11c.1953C>G (p.Arg651=)
c.1974C>G (p.Arg658=)
c.*136C>G (n.*136C>G)
n.2375C>G
16g.15750243G>TCA493792890MYH11c.1953C>A (p.Arg651=)
c.1974C>A (p.Arg658=)
c.*136C>A (n.*136C>A)
n.2375C>A
16g.15750244C>ACA394869045MYH11c.1952G>T (p.Arg651Leu)
c.1973G>T (p.Arg658Leu)
c.*135G>T (n.*135G>T)
n.2374G>T
16g.15750244C=CA2209930439MYH11c.1952G= (p.Arg651=)
c.1973G= (p.Arg658=)
c.*135G= (n.*135G=)
n.2374G=
16g.15750244C>GCA394869046MYH11c.1952G>C (p.Arg651Pro)
c.1973G>C (p.Arg658Pro)
c.*135G>C (n.*135G>C)
n.2374G>C
16g.15750244C>TCA394869047MYH11c.1952G>A (p.Arg651His)
c.1973G>A (p.Arg658His)
c.*135G>A (n.*135G>A)
n.2374G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.15750245G>ACA394869048MYH11c.1951C>T (p.Arg651Cys)
c.1972C>T (p.Arg658Cys)
c.*134C>T (n.*134C>T)
n.2373C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.15750245G>CCA394869049MYH11c.1951C>G (p.Arg651Gly)
c.1972C>G (p.Arg658Gly)
c.*134C>G (n.*134C>G)
n.2373C>G
dbSNP gnomAD v4
16g.15750245G=CA2209930440MYH11c.1951C= (p.Arg651=)
c.1972C= (p.Arg658=)
c.*134C= (n.*134C=)
n.2373C=
16g.15750245G>TCA394869050MYH11c.1951C>A (p.Arg651Ser)
c.1972C>A (p.Arg658Ser)
c.*134C>A (n.*134C>A)
n.2373C>A
16g.15750246G>ACA493792894MYH11c.1950C>T (p.Phe650=)
c.1971C>T (p.Phe657=)
c.*133C>T (n.*133C>T)
n.2372C>T
ClinVar dbSNP
16g.15750246G>CCA394869052MYH11c.1950C>G (p.Phe650Leu)
c.1971C>G (p.Phe657Leu)
c.*133C>G (n.*133C>G)
n.2372C>G
16g.15750246G=CA2209930441MYH11c.1950C= (p.Phe650=)
c.1971C= (p.Phe657=)
c.*133C= (n.*133C=)
n.2372C=
16g.15750246G>TCA394869051MYH11c.1950C>A (p.Phe650Leu)
c.1971C>A (p.Phe657Leu)
c.*133C>A (n.*133C>A)
n.2372C>A
16g.15750247A>CCA394869053MYH11c.1949T>G (p.Phe650Cys)
c.1970T>G (p.Phe657Cys)
c.*132T>G (n.*132T>G)
n.2371T>G
16g.15750247A>GCA394869054MYH11c.1949T>C (p.Phe650Ser)
c.1970T>C (p.Phe657Ser)
c.*132T>C (n.*132T>C)
n.2371T>C
16g.15750247A>TCA394869055MYH11c.1949T>A (p.Phe650Tyr)
c.1970T>A (p.Phe657Tyr)
c.*132T>A (n.*132T>A)
n.2371T>A
16g.15750248A>CCA394869056MYH11c.1948T>G (p.Phe650Val)
c.1969T>G (p.Phe657Val)
c.*131T>G (n.*131T>G)
n.2370T>G
16g.15750248A>GCA394869057MYH11c.1948T>C (p.Phe650Leu)
c.1969T>C (p.Phe657Leu)
c.*131T>C (n.*131T>C)
n.2370T>C
16g.15750248A>TCA394869058MYH11c.1948T>A (p.Phe650Ile)
c.1969T>A (p.Phe657Ile)
c.*131T>A (n.*131T>A)
n.2370T>A
16g.15750249C>ACA394869059MYH11c.1947G>T (p.Met649Ile)
c.1968G>T (p.Met656Ile)
c.*130G>T (n.*130G>T)
n.2369G>T
16g.15750249C>GCA394869060MYH11c.1947G>C (p.Met649Ile)
c.1968G>C (p.Met656Ile)
c.*130G>C (n.*130G>C)
n.2369G>C
16g.15750249C>TCA394869061MYH11c.1947G>A (p.Met649Ile)
c.1968G>A (p.Met656Ile)
c.*130G>A (n.*130G>A)
n.2369G>A
gnomAD v4
16g.15750250A>CCA394869062MYH11c.1946T>G (p.Met649Arg)
c.1967T>G (p.Met656Arg)
c.*129T>G (n.*129T>G)
n.2368T>G
16g.15750250A>GCA394869063MYH11c.1946T>C (p.Met649Thr)
c.1967T>C (p.Met656Thr)
c.*129T>C (n.*129T>C)
n.2368T>C
ClinVar
16g.15750250A>TCA394869064MYH11c.1946T>A (p.Met649Lys)
c.1967T>A (p.Met656Lys)
c.*129T>A (n.*129T>A)
n.2368T>A
16g.15750251T>ACA394869065MYH11c.1945A>T (p.Met649Leu)
c.1966A>T (p.Met656Leu)
c.*128A>T (n.*128A>T)
n.2367A>T
gnomAD v4
16g.15750251T>CCA394869067MYH11c.1945A>G (p.Met649Val)
c.1966A>G (p.Met656Val)
c.*128A>G (n.*128A>G)
n.2367A>G
16g.15750251T>GCA394869066MYH11c.1945A>C (p.Met649Leu)
c.1966A>C (p.Met656Leu)
c.*128A>C (n.*128A>C)
n.2367A>C
16g.15750252G>ACA493792901MYH11c.1944C>T (p.Gly648=)
c.1965C>T (p.Gly655=)
c.*127C>T (n.*127C>T)
n.2366C>T
dbSNP gnomAD v2 gnomAD v4
16g.15750252G>CCA493792900MYH11c.1944C>G (p.Gly648=)
c.1965C>G (p.Gly655=)
c.*127C>G (n.*127C>G)
n.2366C>G
16g.15750252G=CA2209930442MYH11c.1944C= (p.Gly648=)
c.1965C= (p.Gly655=)
c.*127C= (n.*127C=)
n.2366C=
16g.15750252G>TCA493792899MYH11c.1944C>A (p.Gly648=)
c.1965C>A (p.Gly655=)
c.*127C>A (n.*127C>A)
n.2366C>A
16g.15750253C>ACA394869068MYH11c.1943G>T (p.Gly648Val)
c.1964G>T (p.Gly655Val)
c.*126G>T (n.*126G>T)
n.2365G>T
16g.15750253C>GCA394869070MYH11c.1943G>C (p.Gly648Ala)
c.1964G>C (p.Gly655Ala)
c.*126G>C (n.*126G>C)
n.2365G>C
16g.15750253C>TCA394869069MYH11c.1943G>A (p.Gly648Asp)
c.1964G>A (p.Gly655Asp)
c.*126G>A (n.*126G>A)
n.2365G>A
16g.15750254C>ACA394869071MYH11c.1942G>T (p.Gly648Cys)
c.1963G>T (p.Gly655Cys)
c.*125G>T (n.*125G>T)
n.2364G>T
16g.15750254C>GCA394869072MYH11c.1942G>C (p.Gly648Arg)
c.1963G>C (p.Gly655Arg)
c.*125G>C (n.*125G>C)
n.2364G>C
16g.15750254C>TCA394869073MYH11c.1942G>A (p.Gly648Ser)
c.1963G>A (p.Gly655Ser)
c.*125G>A (n.*125G>A)
n.2364G>A
16g.15750255C>ACA394869074MYH11c.1941G>T (p.Lys647Asn)
c.1962G>T (p.Lys654Asn)
c.*124G>T (n.*124G>T)
n.2363G>T
16g.15750255C>GCA394869075MYH11c.1941G>C (p.Lys647Asn)
c.1962G>C (p.Lys654Asn)
c.*124G>C (n.*124G>C)
n.2363G>C
16g.15750255C>TCA493792903MYH11c.1941G>A (p.Lys647=)
c.1962G>A (p.Lys654=)
c.*124G>A (n.*124G>A)
n.2363G>A
COSMIC COSMIC
16g.15750256T>ACA394869076MYH11c.1940A>T (p.Lys647Met)
c.1961A>T (p.Lys654Met)
c.*123A>T (n.*123A>T)
n.2362A>T
16g.15750256T>CCA394869077MYH11c.1940A>G (p.Lys647Arg)
c.1961A>G (p.Lys654Arg)
c.*123A>G (n.*123A>G)
n.2362A>G
16g.15750256T>GCA394869078MYH11c.1940A>C (p.Lys647Thr)
c.1961A>C (p.Lys654Thr)
c.*123A>C (n.*123A>C)
n.2362A>C
16g.15750257T>ACA394869079MYH11c.1939A>T (p.Lys647Ter)
c.1960A>T (p.Lys654Ter)
c.*122A>T (n.*122A>T)
n.2361A>T
16g.15750257T>CCA394869080MYH11c.1939A>G (p.Lys647Glu)
c.1960A>G (p.Lys654Glu)
c.*122A>G (n.*122A>G)
n.2361A>G
gnomAD v4
16g.15750257T>GCA394869081MYH11c.1939A>C (p.Lys647Gln)
c.1960A>C (p.Lys654Gln)
c.*122A>C (n.*122A>C)
n.2361A>C
16g.15750258C>ACA394869083MYH11c.1938G>T (p.Lys646Asn)
c.1959G>T (p.Lys653Asn)
c.*121G>T (n.*121G>T)
n.2360G>T
16g.15750258C>GCA394869082MYH11c.1938G>C (p.Lys646Asn)
c.1959G>C (p.Lys653Asn)
c.*121G>C (n.*121G>C)
n.2360G>C
16g.15750258C>TCA493792907MYH11c.1938G>A (p.Lys646=)
c.1959G>A (p.Lys653=)
c.*121G>A (n.*121G>A)
n.2360G>A
16g.15750259T>ACA394869084MYH11c.1937A>T (p.Lys646Met)
c.1958A>T (p.Lys653Met)
c.*120A>T (n.*120A>T)
n.2359A>T
16g.15750259T>CCA394869085MYH11c.1937A>G (p.Lys646Arg)
c.1958A>G (p.Lys653Arg)
c.*120A>G (n.*120A>G)
n.2359A>G
dbSNP gnomAD v4
16g.15750259T>GCA394869086MYH11c.1937A>C (p.Lys646Thr)
c.1958A>C (p.Lys653Thr)
c.*120A>C (n.*120A>C)
n.2359A>C
16g.15750259T=CA2209930443MYH11c.1937A= (p.Lys646=)
c.1958A= (p.Lys653=)
c.*120A= (n.*120A=)
n.2359A=
16g.15750260T>ACA394869087MYH11c.1936A>T (p.Lys646Ter)
c.1957A>T (p.Lys653Ter)
c.*119A>T (n.*119A>T)
n.2358A>T
16g.15750260T>CCA394869088MYH11c.1936A>G (p.Lys646Glu)
c.1957A>G (p.Lys653Glu)
c.*119A>G (n.*119A>G)
n.2358A>G
16g.15750260T>GCA394869089MYH11c.1936A>C (p.Lys646Gln)
c.1957A>C (p.Lys653Gln)
c.*119A>C (n.*119A>C)
n.2358A>C
16g.15750261G>ACA493792909MYH11c.1935C>T (p.Thr645=)
c.1956C>T (p.Thr652=)
c.*118C>T (n.*118C>T)
n.2357C>T
16g.15750261G>CCA493792910MYH11c.1935C>G (p.Thr645=)
c.1956C>G (p.Thr652=)
c.*118C>G (n.*118C>G)
n.2357C>G
16g.15750261G>TCA493792911MYH11c.1935C>A (p.Thr645=)
c.1956C>A (p.Thr652=)
c.*118C>A (n.*118C>A)
n.2357C>A
16g.15750262G>ACA394869090MYH11c.1934C>T (p.Thr645Ile)
c.1955C>T (p.Thr652Ile)
c.*117C>T (n.*117C>T)
n.2356C>T
16g.15750262G>CCA394869091MYH11c.1934C>G (p.Thr645Ser)
c.1955C>G (p.Thr652Ser)
c.*117C>G (n.*117C>G)
n.2356C>G
16g.15750262G>TCA394869092MYH11c.1934C>A (p.Thr645Asn)
c.1955C>A (p.Thr652Asn)
c.*117C>A (n.*117C>A)
n.2356C>A
16g.15750263T>ACA394869093MYH11c.1933A>T (p.Thr645Ser)
c.1954A>T (p.Thr652Ser)
c.*116A>T (n.*116A>T)
n.2355A>T
16g.15750263T>CCA394869094MYH11c.1933A>G (p.Thr645Ala)
c.1954A>G (p.Thr652Ala)
c.*116A>G (n.*116A>G)
n.2355A>G
16g.15750263T>GCA394869095MYH11c.1933A>C (p.Thr645Pro)
c.1954A>C (p.Thr652Pro)
c.*116A>C (n.*116A>C)
n.2355A>C
16g.15750264C>ACA394869097MYH11c.1932G>T (p.Lys644Asn)
c.1953G>T (p.Lys651Asn)
c.*115G>T (n.*115G>T)
n.2354G>T
16g.15750264C>GCA394869096MYH11c.1932G>C (p.Lys644Asn)
c.1953G>C (p.Lys651Asn)
c.*115G>C (n.*115G>C)
n.2354G>C
16g.15750264C>TCA493792915MYH11c.1932G>A (p.Lys644=)
c.1953G>A (p.Lys651=)
c.*115G>A (n.*115G>A)
n.2354G>A
ClinVar
16g.15750264_15750265insCAAGAAGGGCGTCTTCTACAAGCAAGAAGGGCGTGTTCTTAATCGCTATTCGTAACATCTTGATTTCGTGTAGGTTATAAAAGTAATTGTAAGGTACGTTAAACGCTTATTTAGAGGATGTTTCTCA2806025578MYH11c.1931_1932insAGAAACATCCTCTAAATAAGCGTTTAACGTACCTTACAATTACTTTTATAACCTACACGAAATCAAGATGTTACGAATAGCGATTAAGAACACGCCCTTCTTGCTTGTAGAAGACGCCCTTCTTG (p.Thr645GlufsTer6)
c.1952_1953insAGAAACATCCTCTAAATAAGCGTTTAACGTACCTTACAATTACTTTTATAACCTACACGAAATCAAGATGTTACGAATAGCGATTAAGAACACGCCCTTCTTGCTTGTAGAAGACGCCCTTCTTG (p.Thr652GlufsTer6)
c.*114_*115insAGAAACATCCTCTAAATAAGCGTTTAACGTACCTTACAATTACTTTTATAACCTACACGAAATCAAGATGTTACGAATAGCGATTAAGAACACGCCCTTCTTGCTTGTAGAAGACGCCCTTCTTG (n.*114_*115insAGAAACATCCTCTAAATAAGCGTTTAACGTACCTTACAATTACTTTTATAACCTACACGAAATCAAGATGTTACGAATAGCGATTAAGAACACGCCCTTCTTGCTTGTAGAAGACGCCCTTCTTG)
n.2353_2354insAGAAACATCCTCTAAATAAGCGTTTAACGTACCTTACAATTACTTTTATAACCTACACGAAATCAAGATGTTACGAATAGCGATTAAGAACACGCCCTTCTTGCTTGTAGAAGACGCCCTTCTTG
16g.15750264_15750265insCAAGAAGGGCGTCTTCTACGAGCAAGAAGGGCGTGGTCTTAAGCGCTAAGTGTAAAGTTCTGATTTCCTGTGGGTTATATATTTGATTATAGGGAGTGCTGTAGGGTAGTTTTGAGGGTGATAGGCTCGGCA2520743454MYH11c.1931_1932insCCGAGCCTATCACCCTCAAAACTACCCTACAGCACTCCCTATAATCAAATATATAACCCACAGGAAATCAGAACTTTACACTTAGCGCTTAAGACCACGCCCTTCTTGCTCGTAGAAGACGCCCTTCTTG (p.Lys644AsnfsTer29)
c.1952_1953insCCGAGCCTATCACCCTCAAAACTACCCTACAGCACTCCCTATAATCAAATATATAACCCACAGGAAATCAGAACTTTACACTTAGCGCTTAAGACCACGCCCTTCTTGCTCGTAGAAGACGCCCTTCTTG (p.Lys651AsnfsTer29)
c.*114_*115insCCGAGCCTATCACCCTCAAAACTACCCTACAGCACTCCCTATAATCAAATATATAACCCACAGGAAATCAGAACTTTACACTTAGCGCTTAAGACCACGCCCTTCTTGCTCGTAGAAGACGCCCTTCTTG (n.*114_*115insCCGAGCCTATCACCCTCAAAACTACCCTACAGCACTCCCTATAATCAAATATATAACCCACAGGAAATCAGAACTTTACACTTAGCGCTTAAGACCACGCCCTTCTTGCTCGTAGAAGACGCCCTTCTTG)
n.2353_2354insCCGAGCCTATCACCCTCAAAACTACCCTACAGCACTCCCTATAATCAAATATATAACCCACAGGAAATCAGAACTTTACACTTAGCGCTTAAGACCACGCCCTTCTTGCTCGTAGAAGACGCCCTTCTTG
16g.15750265T>ACA394869098MYH11c.1931A>T (p.Lys644Met)
c.1952A>T (p.Lys651Met)
c.*114A>T (n.*114A>T)
n.2353A>T
16g.15750265T>CCA394869099MYH11c.1931A>G (p.Lys644Arg)
c.1952A>G (p.Lys651Arg)
c.*114A>G (n.*114A>G)
n.2353A>G
16g.15750265T>GCA394869100MYH11c.1931A>C (p.Lys644Thr)
c.1952A>C (p.Lys651Thr)
c.*114A>C (n.*114A>C)
n.2353A>C
16g.15750266T>ACA394869101MYH11c.1930A>T (p.Lys644Ter)
c.1951A>T (p.Lys651Ter)
c.*113A>T (n.*113A>T)
n.2352A>T
16g.15750266T>CCA394869102MYH11c.1930A>G (p.Lys644Glu)
c.1951A>G (p.Lys651Glu)
c.*113A>G (n.*113A>G)
n.2352A>G
16g.15750266T>GCA394869103MYH11c.1930A>C (p.Lys644Gln)
c.1951A>C (p.Lys651Gln)
c.*113A>C (n.*113A>C)
n.2352A>C
16g.15750267G>ACA493792917MYH11c.1929C>T (p.Ser643=)
c.1950C>T (p.Ser650=)
c.*112C>T (n.*112C>T)
n.2351C>T
ClinVar dbSNP
16g.15750267G>CCA493792918MYH11c.1929C>G (p.Ser643=)
c.1950C>G (p.Ser650=)
c.*112C>G (n.*112C>G)
n.2351C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.15750267G=CA2209930444MYH11c.1929C= (p.Ser643=)
c.1950C= (p.Ser650=)
c.*112C= (n.*112C=)
n.2351C=
16g.15750267G>TCA493792919MYH11c.1929C>A (p.Ser643=)
c.1950C>A (p.Ser650=)
c.*112C>A (n.*112C>A)
n.2351C>A
16g.15750268G>ACA394869104MYH11c.1928C>T (p.Ser643Phe)
c.1949C>T (p.Ser650Phe)
c.*111C>T (n.*111C>T)
n.2350C>T
gnomAD v4
16g.15750268G>CCA394869105MYH11c.1928C>G (p.Ser643Cys)
c.1949C>G (p.Ser650Cys)
c.*111C>G (n.*111C>G)
n.2350C>G
16g.15750268G>TCA394869106MYH11c.1928C>A (p.Ser643Tyr)
c.1949C>A (p.Ser650Tyr)
c.*111C>A (n.*111C>A)
n.2350C>A
16g.15750269A>CCA394869107MYH11c.1927T>G (p.Ser643Ala)
c.1948T>G (p.Ser650Ala)
c.*110T>G (n.*110T>G)
n.2349T>G
16g.15750269A>GCA394869108MYH11c.1927T>C (p.Ser643Pro)
c.1948T>C (p.Ser650Pro)
c.*110T>C (n.*110T>C)
n.2349T>C
16g.15750269A>TCA394869109MYH11c.1927T>A (p.Ser643Thr)
c.1948T>A (p.Ser650Thr)
c.*110T>A (n.*110T>A)
n.2349T>A
16g.15750270G>ACA278638583MYH11c.1926C>T (p.Ala642=)
c.1947C>T (p.Ala649=)
c.*109C>T (n.*109C>T)
n.2348C>T
ClinVar dbSNP
16g.15750270G>CCA493792920MYH11c.1926C>G (p.Ala642=)
c.1947C>G (p.Ala649=)
c.*109C>G (n.*109C>G)
n.2348C>G
ClinVar dbSNP
16g.15750270G=CA2209930445MYH11c.1926C= (p.Ala642=)
c.1947C= (p.Ala649=)
c.*109C= (n.*109C=)
n.2348C=
16g.15750270G>TCA493792921MYH11c.1926C>A (p.Ala642=)
c.1947C>A (p.Ala649=)
c.*109C>A (n.*109C>A)
n.2348C>A
16g.15750271G>ACA394869111MYH11c.1925C>T (p.Ala642Val)
c.1946C>T (p.Ala649Val)
c.*108C>T (n.*108C>T)
n.2347C>T
16g.15750271G>CCA394869112MYH11c.1925C>G (p.Ala642Gly)
c.1946C>G (p.Ala649Gly)
c.*108C>G (n.*108C>G)
n.2347C>G
16g.15750271G>TCA394869110MYH11c.1925C>A (p.Ala642Asp)
c.1946C>A (p.Ala649Asp)
c.*108C>A (n.*108C>A)
n.2347C>A
16g.15750271_15750289delinsGCGCTGGGCAGCGAGCTCTCA2209930446MYH11c.1907_1925delinsAGAGCTCGCTGCCCAGCGC (p.Glu636=)
c.1928_1946delinsAGAGCTCGCTGCCCAGCGC (p.Glu643=)
c.*90_*108delinsAGAGCTCGCTGCCCAGCGC (n.*90_*108delinsAGAGCTCGCTGCCCAGCGC)
n.2329_2347delinsAGAGCTCGCTGCCCAGCGC
16g.15750272C>ACA394869113MYH11c.1924G>T (p.Ala642Ser)
c.1945G>T (p.Ala649Ser)
c.*107G>T (n.*107G>T)
n.2346G>T
16g.15750272C=CA2209930447MYH11c.1924G= (p.Ala642=)
c.1945G= (p.Ala649=)
c.*107G= (n.*107G=)
n.2346G=
16g.15750272C>GCA394869114MYH11c.1924G>C (p.Ala642Pro)
c.1945G>C (p.Ala649Pro)
c.*107G>C (n.*107G>C)
n.2346G>C
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.15750272C>TCA7922465MYH11c.1924G>A (p.Ala642Thr)
c.1945G>A (p.Ala649Thr)
c.*107G>A (n.*107G>A)
n.2346G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.15750273_15750290delCA7922464MYH11c.1907_1924del (p.Glu636_Ser641del)
c.1928_1945del (p.Glu643_Ser648del)
c.*90_*107del (n.*90_*107del)
n.2329_2346del
dbSNP ExAC gnomAD v2
16g.15750273G>ACA7922466MYH11c.1923C>T (p.Ser641=)
c.1944C>T (p.Ser648=)
c.*106C>T (n.*106C>T)
n.2345C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
16g.15750273G>CCA394869117MYH11c.1923C>G (p.Ser641Arg)
c.1944C>G (p.Ser648Arg)
c.*106C>G (n.*106C>G)
n.2345C>G
16g.15750273G=CA2209930448MYH11c.1923C= (p.Ser641=)
c.1944C= (p.Ser648=)
c.*106C= (n.*106C=)
n.2345C=
16g.15750273G>TCA394869116MYH11c.1923C>A (p.Ser641Arg)
c.1944C>A (p.Ser648Arg)
c.*106C>A (n.*106C>A)
n.2345C>A
ClinVar dbSNP gnomAD v4

Number of alleles fetched