Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.15750173A>C | CA394868878 | MYH11 | c.2023T>G (p.Phe675Val) c.2044T>G (p.Phe682Val) c.*206T>G (n.*206T>G) n.2445T>G | |
16 | g.15750173A>G | CA394868880 | MYH11 | c.2023T>C (p.Phe675Leu) c.2044T>C (p.Phe682Leu) c.*206T>C (n.*206T>C) n.2445T>C | |
16 | g.15750173A>T | CA394868881 | MYH11 | c.2023T>A (p.Phe675Ile) c.2044T>A (p.Phe682Ile) c.*206T>A (n.*206T>A) n.2445T>A | |
16 | g.15750174G>A | CA493792808 | MYH11 | c.2022C>T (p.Asn674=) c.2043C>T (p.Asn681=) c.*205C>T (n.*205C>T) n.2444C>T | dbSNP gnomAD v4 |
16 | g.15750174G>C | CA394868882 | MYH11 | c.2022C>G (p.Asn674Lys) c.2043C>G (p.Asn681Lys) c.*205C>G (n.*205C>G) n.2444C>G | |
16 | g.15750174G= | CA2209930407 | MYH11 | c.2022C= (p.Asn674=) c.2043C= (p.Asn681=) c.*205C= (n.*205C=) n.2444C= | |
16 | g.15750174G>T | CA394868884 | MYH11 | c.2022C>A (p.Asn674Lys) c.2043C>A (p.Asn681Lys) c.*205C>A (n.*205C>A) n.2444C>A | |
16 | g.15750175T>A | CA394868886 | MYH11 | c.2021A>T (p.Asn674Ile) c.2042A>T (p.Asn681Ile) c.*204A>T (n.*204A>T) n.2443A>T | |
16 | g.15750175T>C | CA394868887 | MYH11 | c.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 |
16 | g.15750175T>G | CA394868888 | MYH11 | c.2021A>C (p.Asn674Thr) c.2042A>C (p.Asn681Thr) c.*204A>C (n.*204A>C) n.2443A>C | |
16 | g.15750175T= | CA2209930408 | MYH11 | c.2021A= (p.Asn674=) c.2042A= (p.Asn681=) c.*204A= (n.*204A=) n.2443A= | |
16 | g.15750176T>A | CA394868890 | MYH11 | c.2020A>T (p.Asn674Tyr) c.2041A>T (p.Asn681Tyr) c.*203A>T (n.*203A>T) n.2442A>T | |
16 | g.15750176T>C | CA394868893 | MYH11 | c.2020A>G (p.Asn674Asp) c.2041A>G (p.Asn681Asp) c.*203A>G (n.*203A>G) n.2442A>G | |
16 | g.15750176T>G | CA394868894 | MYH11 | c.2020A>C (p.Asn674His) c.2041A>C (p.Asn681His) c.*203A>C (n.*203A>C) n.2442A>C | gnomAD v4 |
16 | g.15750177G>A | CA493792810 | MYH11 | c.2019C>T (p.Pro673=) c.2040C>T (p.Pro680=) c.*202C>T (n.*202C>T) n.2441C>T | |
16 | g.15750177G>C | CA493792812 | MYH11 | c.2019C>G (p.Pro673=) c.2040C>G (p.Pro680=) c.*202C>G (n.*202C>G) n.2441C>G | |
16 | g.15750177G>T | CA493792814 | MYH11 | c.2019C>A (p.Pro673=) c.2040C>A (p.Pro680=) c.*202C>A (n.*202C>A) n.2441C>A | ClinVar gnomAD v4 |
16 | g.15750178G>A | CA394868899 | MYH11 | c.2018C>T (p.Pro673Leu) c.2039C>T (p.Pro680Leu) c.*201C>T (n.*201C>T) n.2440C>T | |
16 | g.15750178G>C | CA394868898 | MYH11 | c.2018C>G (p.Pro673Arg) c.2039C>G (p.Pro680Arg) c.*201C>G (n.*201C>G) n.2440C>G | |
16 | g.15750178G>T | CA394868896 | MYH11 | c.2018C>A (p.Pro673His) c.2039C>A (p.Pro680His) c.*201C>A (n.*201C>A) n.2440C>A | gnomAD v4 |
16 | g.15750179G>A | CA394868900 | MYH11 | c.2017C>T (p.Pro673Ser) c.2038C>T (p.Pro680Ser) c.*200C>T (n.*200C>T) n.2439C>T | gnomAD v4 |
16 | g.15750179G>C | CA394868902 | MYH11 | c.2017C>G (p.Pro673Ala) c.2038C>G (p.Pro680Ala) c.*200C>G (n.*200C>G) n.2439C>G | ClinVar dbSNP |
16 | g.15750179G= | CA2209930409 | MYH11 | c.2017C= (p.Pro673=) c.2038C= (p.Pro680=) c.*200C= (n.*200C=) n.2439C= | |
16 | g.15750179G>T | CA394868904 | MYH11 | c.2017C>A (p.Pro673Thr) c.2038C>A (p.Pro680Thr) c.*200C>A (n.*200C>A) n.2439C>A | |
16 | g.15750180C>A | CA493792815 | MYH11 | c.2016G>T (p.Thr672=) c.2037G>T (p.Thr679=) c.*199G>T (n.*199G>T) n.2438G>T | dbSNP gnomAD v2 |
16 | g.15750180C= | CA2209930410 | MYH11 | c.2016G= (p.Thr672=) c.2037G= (p.Thr679=) c.*199G= (n.*199G=) n.2438G= | |
16 | g.15750180C>G | CA493792817 | MYH11 | c.2016G>C (p.Thr672=) c.2037G>C (p.Thr679=) c.*199G>C (n.*199G>C) n.2438G>C | |
16 | g.15750180C>T | CA7922449 | MYH11 | c.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 |
16 | g.15750181G>A | CA7922450 | MYH11 | c.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 |
16 | g.15750181G>C | CA394868906 | MYH11 | c.2015C>G (p.Thr672Arg) c.2036C>G (p.Thr679Arg) c.*198C>G (n.*198C>G) n.2437C>G | |
16 | g.15750181G= | CA2209930411 | MYH11 | c.2015C= (p.Thr672=) c.2036C= (p.Thr679=) c.*198C= (n.*198C=) n.2437C= | |
16 | g.15750181G>T | CA394868907 | MYH11 | c.2015C>A (p.Thr672Lys) c.2036C>A (p.Thr679Lys) c.*198C>A (n.*198C>A) n.2437C>A | dbSNP |
16 | g.15750182T>A | CA394868910 | MYH11 | c.2014A>T (p.Thr672Ser) c.2035A>T (p.Thr679Ser) c.*197A>T (n.*197A>T) n.2436A>T | |
16 | g.15750182T>C | CA394868911 | MYH11 | c.2014A>G (p.Thr672Ala) c.2035A>G (p.Thr679Ala) c.*197A>G (n.*197A>G) n.2436A>G | |
16 | g.15750182T>G | CA394868913 | MYH11 | c.2014A>C (p.Thr672Pro) c.2035A>C (p.Thr679Pro) c.*197A>C (n.*197A>C) n.2436A>C | |
16 | g.15750183G>A | CA7922451 | MYH11 | c.2013C>T (p.Thr671=) c.2034C>T (p.Thr678=) c.*196C>T (n.*196C>T) n.2435C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.15750183G>C | CA493792818 | MYH11 | c.2013C>G (p.Thr671=) c.2034C>G (p.Thr678=) c.*196C>G (n.*196C>G) n.2435C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.15750183G= | CA2209930412 | MYH11 | c.2013C= (p.Thr671=) c.2034C= (p.Thr678=) c.*196C= (n.*196C=) n.2435C= | |
16 | g.15750183G>T | CA493792820 | MYH11 | c.2013C>A (p.Thr671=) c.2034C>A (p.Thr678=) c.*196C>A (n.*196C>A) n.2435C>A | |
16 | g.15750184G>A | CA394868918 | MYH11 | c.2012C>T (p.Thr671Ile) c.2033C>T (p.Thr678Ile) c.*195C>T (n.*195C>T) n.2434C>T | ClinVar |
16 | g.15750184G>C | CA394868917 | MYH11 | c.2012C>G (p.Thr671Ser) c.2033C>G (p.Thr678Ser) c.*195C>G (n.*195C>G) n.2434C>G | dbSNP |
16 | g.15750184G= | CA2209930413 | MYH11 | c.2012C= (p.Thr671=) c.2033C= (p.Thr678=) c.*195C= (n.*195C=) n.2434C= | |
16 | g.15750184G>T | CA394868916 | MYH11 | c.2012C>A (p.Thr671Asn) c.2033C>A (p.Thr678Asn) c.*195C>A (n.*195C>A) n.2434C>A | gnomAD v4 |
16 | g.15750185T>A | CA394868919 | MYH11 | c.2011A>T (p.Thr671Ser) c.2032A>T (p.Thr678Ser) c.*194A>T (n.*194A>T) n.2433A>T | |
16 | g.15750185T>C | CA394868921 | MYH11 | c.2011A>G (p.Thr671Ala) c.2032A>G (p.Thr678Ala) c.*194A>G (n.*194A>G) n.2433A>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.15750185T>G | CA394868923 | MYH11 | c.2011A>C (p.Thr671Pro) c.2032A>C (p.Thr678Pro) c.*194A>C (n.*194A>C) n.2433A>C | |
16 | g.15750185T= | CA2209930414 | MYH11 | c.2011A= (p.Thr671=) c.2032A= (p.Thr678=) c.*194A= (n.*194A=) n.2433A= | |
16 | g.15750186G>A | CA7922452 | MYH11 | c.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 |
16 | g.15750186G>C | CA394868925 | MYH11 | c.2010C>G (p.Asn670Lys) c.2031C>G (p.Asn677Lys) c.*193C>G (n.*193C>G) n.2432C>G | |
16 | g.15750186G= | CA2209930415 | MYH11 | c.2010C= (p.Asn670=) c.2031C= (p.Asn677=) c.*193C= (n.*193C=) n.2432C= | |
16 | g.15750186G>T | CA394868926 | MYH11 | c.2010C>A (p.Asn670Lys) c.2031C>A (p.Asn677Lys) c.*193C>A (n.*193C>A) n.2432C>A | |
16 | g.15750187T>A | CA394868927 | MYH11 | c.2009A>T (p.Asn670Ile) c.2030A>T (p.Asn677Ile) c.*192A>T (n.*192A>T) n.2431A>T | |
16 | g.15750187T>C | CA394868928 | MYH11 | c.2009A>G (p.Asn670Ser) c.2030A>G (p.Asn677Ser) c.*192A>G (n.*192A>G) n.2431A>G | |
16 | g.15750187T>G | CA394868929 | MYH11 | c.2009A>C (p.Asn670Thr) c.2030A>C (p.Asn677Thr) c.*192A>C (n.*192A>C) n.2431A>C | |
16 | g.15750188T>A | CA394868930 | MYH11 | c.2008A>T (p.Asn670Tyr) c.2029A>T (p.Asn677Tyr) c.*191A>T (n.*191A>T) n.2430A>T | |
16 | g.15750188T>C | CA394868931 | MYH11 | c.2008A>G (p.Asn670Asp) c.2029A>G (p.Asn677Asp) c.*191A>G (n.*191A>G) n.2430A>G | |
16 | g.15750188T>G | CA394868932 | MYH11 | c.2008A>C (p.Asn670His) c.2029A>C (p.Asn677His) c.*191A>C (n.*191A>C) n.2430A>C | |
16 | g.15750189G>A | CA493792822 | MYH11 | c.2007C>T (p.Arg669=) c.2028C>T (p.Arg676=) c.*190C>T (n.*190C>T) n.2429C>T | |
16 | g.15750189G>C | CA493792823 | MYH11 | c.2007C>G (p.Arg669=) c.2028C>G (p.Arg676=) c.*190C>G (n.*190C>G) n.2429C>G | |
16 | g.15750189G>T | CA493792825 | MYH11 | c.2007C>A (p.Arg669=) c.2028C>A (p.Arg676=) c.*190C>A (n.*190C>A) n.2429C>A | |
16 | g.15750189dup | CA2839399371 | MYH11 | c.2007dup (p.Asn670GlnfsTer?) c.2028dup (p.Asn677GlnfsTer?) c.*190dup (n.*190dup) n.2429dup | |
16 | g.15750190C>A | CA7922453 | MYH11 | c.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 |
16 | g.15750190C= | CA2209930416 | MYH11 | c.2006G= (p.Arg669=) c.2027G= (p.Arg676=) c.*189G= (n.*189G=) n.2428G= | |
16 | g.15750190C>G | CA394868933 | MYH11 | c.2006G>C (p.Arg669Pro) c.2027G>C (p.Arg676Pro) c.*189G>C (n.*189G>C) n.2428G>C | |
16 | g.15750190C>T | CA7922454 | MYH11 | c.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 |
16 | g.15750191G>A | CA211699 | MYH11 | c.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 |
16 | g.15750191G>C | CA394868934 | MYH11 | c.2005C>G (p.Arg669Gly) c.2026C>G (p.Arg676Gly) c.*188C>G (n.*188C>G) n.2427C>G | |
16 | g.15750191G= | CA2209930417 | MYH11 | c.2005C= (p.Arg669=) c.2026C= (p.Arg676=) c.*188C= (n.*188C=) n.2427C= | |
16 | g.15750191G>T | CA7922455 | MYH11 | c.2005C>A (p.Arg669Ser) c.2026C>A (p.Arg676Ser) c.*188C>A (n.*188C>A) n.2427C>A | dbSNP ExAC gnomAD v2 |
16 | g.15750192T>A | CA493792826 | MYH11 | c.2004A>T (p.Leu668=) c.2025A>T (p.Leu675=) c.*187A>T (n.*187A>T) n.2426A>T | |
16 | g.15750192T>C | CA493792828 | MYH11 | c.2004A>G (p.Leu668=) c.2025A>G (p.Leu675=) c.*187A>G (n.*187A>G) n.2426A>G | dbSNP |
16 | g.15750192T>G | CA493792829 | MYH11 | c.2004A>C (p.Leu668=) c.2025A>C (p.Leu675=) c.*187A>C (n.*187A>C) n.2426A>C | |
16 | g.15750193A>C | CA394868935 | MYH11 | c.2003T>G (p.Leu668Arg) c.2024T>G (p.Leu675Arg) c.*186T>G (n.*186T>G) n.2425T>G | |
16 | g.15750193A>G | CA394868936 | MYH11 | c.2003T>C (p.Leu668Pro) c.2024T>C (p.Leu675Pro) c.*186T>C (n.*186T>C) n.2425T>C | |
16 | g.15750193A>T | CA394868937 | MYH11 | c.2003T>A (p.Leu668Gln) c.2024T>A (p.Leu675Gln) c.*186T>A (n.*186T>A) n.2425T>A | |
16 | g.15750194G>A | CA493792830 | MYH11 | c.2002C>T (p.Leu668=) c.2023C>T (p.Leu675=) c.*185C>T (n.*185C>T) n.2424C>T | |
16 | g.15750194G>C | CA394868938 | MYH11 | c.2002C>G (p.Leu668Val) c.2023C>G (p.Leu675Val) c.*185C>G (n.*185C>G) n.2424C>G | |
16 | g.15750194G>T | CA394868939 | MYH11 | c.2002C>A (p.Leu668Ile) c.2023C>A (p.Leu675Ile) c.*185C>A (n.*185C>A) n.2424C>A | |
16 | g.15750195C>A | CA493792833 | MYH11 | c.2001G>T (p.Thr667=) c.2022G>T (p.Thr674=) c.*184G>T (n.*184G>T) n.2423G>T | |
16 | g.15750195C= | CA2209930418 | MYH11 | c.2001G= (p.Thr667=) c.2022G= (p.Thr674=) c.*184G= (n.*184G=) n.2423G= | |
16 | g.15750195C>G | CA493792832 | MYH11 | c.2001G>C (p.Thr667=) c.2022G>C (p.Thr674=) c.*184G>C (n.*184G>C) n.2423G>C | |
16 | g.15750195C>T | CA7922456 | MYH11 | c.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 |
16 | g.15750196G>A | CA7922457 | MYH11 | c.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 |
16 | g.15750196G>C | CA394868940 | MYH11 | c.2000C>G (p.Thr667Arg) c.2021C>G (p.Thr674Arg) c.*183C>G (n.*183C>G) n.2422C>G | |
16 | g.15750196G= | CA2209930419 | MYH11 | c.2000C= (p.Thr667=) c.2021C= (p.Thr674=) c.*183C= (n.*183C=) n.2422C= | |
16 | g.15750196G>T | CA394868941 | MYH11 | c.2000C>A (p.Thr667Lys) c.2021C>A (p.Thr674Lys) c.*183C>A (n.*183C>A) n.2422C>A | |
16 | g.15750197T>A | CA394868944 | MYH11 | c.1999A>T (p.Thr667Ser) c.2020A>T (p.Thr674Ser) c.*182A>T (n.*182A>T) n.2421A>T | |
16 | g.15750197T>C | CA394868943 | MYH11 | c.1999A>G (p.Thr667Ala) c.2020A>G (p.Thr674Ala) c.*182A>G (n.*182A>G) n.2421A>G | |
16 | g.15750197T>G | CA394868942 | MYH11 | c.1999A>C (p.Thr667Pro) c.2020A>C (p.Thr674Pro) c.*182A>C (n.*182A>C) n.2421A>C | |
16 | g.15750198G>A | CA493792834 | MYH11 | c.1998C>T (p.Thr666=) c.2019C>T (p.Thr673=) c.*181C>T (n.*181C>T) n.2420C>T | dbSNP gnomAD v4 |
16 | g.15750198G>C | CA493792835 | MYH11 | c.1998C>G (p.Thr666=) c.2019C>G (p.Thr673=) c.*181C>G (n.*181C>G) n.2420C>G | |
16 | g.15750198G= | CA2209930420 | MYH11 | c.1998C= (p.Thr666=) c.2019C= (p.Thr673=) c.*181C= (n.*181C=) n.2420C= | |
16 | g.15750198G>T | CA493792836 | MYH11 | c.1998C>A (p.Thr666=) c.2019C>A (p.Thr673=) c.*181C>A (n.*181C>A) n.2420C>A | |
16 | g.15750199G>A | CA394868945 | MYH11 | c.1997C>T (p.Thr666Ile) c.2018C>T (p.Thr673Ile) c.*180C>T (n.*180C>T) n.2419C>T | gnomAD v4 COSMIC COSMIC |
16 | g.15750199G>C | CA394868946 | MYH11 | c.1997C>G (p.Thr666Ser) c.2018C>G (p.Thr673Ser) c.*180C>G (n.*180C>G) n.2419C>G | |
16 | g.15750199G>T | CA394868947 | MYH11 | c.1997C>A (p.Thr666Asn) c.2018C>A (p.Thr673Asn) c.*180C>A (n.*180C>A) n.2419C>A | |
16 | g.15750200T>A | CA394868948 | MYH11 | c.1996A>T (p.Thr666Ser) c.2017A>T (p.Thr673Ser) c.*179A>T (n.*179A>T) n.2418A>T | |
16 | g.15750200T>C | CA394868949 | MYH11 | c.1996A>G (p.Thr666Ala) c.2017A>G (p.Thr673Ala) c.*179A>G (n.*179A>G) n.2418A>G | |
16 | g.15750200T>G | CA394868950 | MYH11 | c.1996A>C (p.Thr666Pro) c.2017A>C (p.Thr673Pro) c.*179A>C (n.*179A>C) n.2418A>C | |
16 | g.15750201C>A | CA394868953 | MYH11 | c.1995G>T (p.Met665Ile) c.2016G>T (p.Met672Ile) c.*178G>T (n.*178G>T) n.2417G>T | COSMIC COSMIC |
16 | g.15750201C= | CA2209930421 | MYH11 | c.1995G= (p.Met665=) c.2016G= (p.Met672=) c.*178G= (n.*178G=) n.2417G= | |
16 | g.15750201C>G | CA394868952 | MYH11 | c.1995G>C (p.Met665Ile) c.2016G>C (p.Met672Ile) c.*178G>C (n.*178G>C) n.2417G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.15750201C>T | CA394868951 | MYH11 | c.1995G>A (p.Met665Ile) c.2016G>A (p.Met672Ile) c.*178G>A (n.*178G>A) n.2417G>A | gnomAD v4 |
16 | g.15750202A>C | CA394868954 | MYH11 | c.1994T>G (p.Met665Arg) c.2015T>G (p.Met672Arg) c.*177T>G (n.*177T>G) n.2416T>G | gnomAD v4 |
16 | g.15750202A>G | CA394868955 | MYH11 | c.1994T>C (p.Met665Thr) c.2015T>C (p.Met672Thr) c.*177T>C (n.*177T>C) n.2416T>C | gnomAD v4 |
16 | g.15750202A>T | CA394868956 | MYH11 | c.1994T>A (p.Met665Lys) c.2015T>A (p.Met672Lys) c.*177T>A (n.*177T>A) n.2416T>A | |
16 | g.15750203T>A | CA394868957 | MYH11 | c.1993A>T (p.Met665Leu) c.2014A>T (p.Met672Leu) c.*176A>T (n.*176A>T) n.2415A>T | |
16 | g.15750203T>C | CA394868958 | MYH11 | c.1993A>G (p.Met665Val) c.2014A>G (p.Met672Val) c.*176A>G (n.*176A>G) n.2415A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.15750203T>G | CA394868959 | MYH11 | c.1993A>C (p.Met665Leu) c.2014A>C (p.Met672Leu) c.*176A>C (n.*176A>C) n.2415A>C | |
16 | g.15750203T= | CA2209930422 | MYH11 | c.1993A= (p.Met665=) c.2014A= (p.Met672=) c.*176A= (n.*176A=) n.2415A= | |
16 | g.15750204C>A | CA493792839 | MYH11 | c.1992G>T (p.Leu664=) c.2013G>T (p.Leu671=) c.*175G>T (n.*175G>T) n.2414G>T | |
16 | g.15750204C= | CA2209930423 | MYH11 | c.1992G= (p.Leu664=) c.2013G= (p.Leu671=) c.*175G= (n.*175G=) n.2414G= | |
16 | g.15750204C>G | CA493792840 | MYH11 | c.1992G>C (p.Leu664=) c.2013G>C (p.Leu671=) c.*175G>C (n.*175G>C) n.2414G>C | |
16 | g.15750204C>T | CA493792841 | MYH11 | c.1992G>A (p.Leu664=) c.2013G>A (p.Leu671=) c.*175G>A (n.*175G>A) n.2414G>A | ClinVar dbSNP gnomAD v4 |
16 | g.15750205A>C | CA394868960 | MYH11 | c.1991T>G (p.Leu664Arg) c.2012T>G (p.Leu671Arg) c.*174T>G (n.*174T>G) n.2413T>G | |
16 | g.15750205A>G | CA394868962 | MYH11 | c.1991T>C (p.Leu664Pro) c.2012T>C (p.Leu671Pro) c.*174T>C (n.*174T>C) n.2413T>C | |
16 | g.15750205A>T | CA394868961 | MYH11 | c.1991T>A (p.Leu664Gln) c.2012T>A (p.Leu671Gln) c.*174T>A (n.*174T>A) n.2413T>A | |
16 | g.15750206del | CA2806025577 | MYH11 | c.1990del (p.Leu664Ter) c.2011del (p.Leu671Ter) c.*173del (n.*173del) n.2412del | |
16 | g.15750206G>A | CA493792842 | MYH11 | c.1990C>T (p.Leu664=) c.2011C>T (p.Leu671=) c.*173C>T (n.*173C>T) n.2412C>T | ClinVar dbSNP gnomAD v4 |
16 | g.15750206G>C | CA7922458 | MYH11 | c.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 |
16 | g.15750206G= | CA2209930424 | MYH11 | c.1990C= (p.Leu664=) c.2011C= (p.Leu671=) c.*173C= (n.*173C=) n.2412C= | |
16 | g.15750206G>T | CA394868963 | MYH11 | c.1990C>A (p.Leu664Met) c.2011C>A (p.Leu671Met) c.*173C>A (n.*173C>A) n.2412C>A | |
16 | g.15750207C>A | CA394868964 | MYH11 | c.1989G>T (p.Lys663Asn) c.2010G>T (p.Lys670Asn) c.*172G>T (n.*172G>T) n.2411G>T | |
16 | g.15750207C= | CA2209930425 | MYH11 | c.1989G= (p.Lys663=) c.2010G= (p.Lys670=) c.*172G= (n.*172G=) n.2411G= | |
16 | g.15750207C>G | CA394868965 | MYH11 | c.1989G>C (p.Lys663Asn) c.2010G>C (p.Lys670Asn) c.*172G>C (n.*172G>C) n.2411G>C | ClinVar |
16 | g.15750207C>T | CA7922459 | MYH11 | c.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 |
16 | g.15750208T>A | CA394868966 | MYH11 | c.1988A>T (p.Lys663Met) c.2009A>T (p.Lys670Met) c.*171A>T (n.*171A>T) n.2410A>T | |
16 | g.15750208T>C | CA394868967 | MYH11 | c.1988A>G (p.Lys663Arg) c.2009A>G (p.Lys670Arg) c.*171A>G (n.*171A>G) n.2410A>G | |
16 | g.15750208T>G | CA394868968 | MYH11 | c.1988A>C (p.Lys663Thr) c.2009A>C (p.Lys670Thr) c.*171A>C (n.*171A>C) n.2410A>C | |
16 | g.15750209T>A | CA394868969 | MYH11 | c.1987A>T (p.Lys663Ter) c.2008A>T (p.Lys670Ter) c.*170A>T (n.*170A>T) n.2409A>T | |
16 | g.15750209T>C | CA394868970 | MYH11 | c.1987A>G (p.Lys663Glu) c.2008A>G (p.Lys670Glu) c.*170A>G (n.*170A>G) n.2409A>G | |
16 | g.15750209T>G | CA394868971 | MYH11 | c.1987A>C (p.Lys663Gln) c.2008A>C (p.Lys670Gln) c.*170A>C (n.*170A>C) n.2409A>C | |
16 | g.15750210G>A | CA493792847 | MYH11 | c.1986C>T (p.Gly662=) c.2007C>T (p.Gly669=) c.*169C>T (n.*169C>T) n.2408C>T | |
16 | g.15750210G>C | CA7922460 | MYH11 | c.1986C>G (p.Gly662=) c.2007C>G (p.Gly669=) c.*169C>G (n.*169C>G) n.2408C>G | dbSNP ExAC gnomAD v2 |
16 | g.15750210G= | CA2209930426 | MYH11 | c.1986C= (p.Gly662=) c.2007C= (p.Gly669=) c.*169C= (n.*169C=) n.2408C= | |
16 | g.15750210G>T | CA493792848 | MYH11 | c.1986C>A (p.Gly662=) c.2007C>A (p.Gly669=) c.*169C>A (n.*169C>A) n.2408C>A | COSMIC COSMIC |
16 | g.15750211C>A | CA394868972 | MYH11 | c.1985G>T (p.Gly662Val) c.2006G>T (p.Gly669Val) c.*168G>T (n.*168G>T) n.2407G>T | |
16 | g.15750211C>G | CA394868974 | MYH11 | c.1985G>C (p.Gly662Ala) c.2006G>C (p.Gly669Ala) c.*168G>C (n.*168G>C) n.2407G>C | |
16 | g.15750211C>T | CA394868973 | MYH11 | c.1985G>A (p.Gly662Asp) c.2006G>A (p.Gly669Asp) c.*168G>A (n.*168G>A) n.2407G>A | |
16 | g.15750213dup | CA2840872628 | MYH11 | c.1985dup (p.Lys663GlnfsTer?) c.2006dup (p.Lys670GlnfsTer?) c.*168dup (n.*168dup) n.2407dup | |
16 | g.15750212C>A | CA394868975 | MYH11 | c.1984G>T (p.Gly662Cys) c.2005G>T (p.Gly669Cys) c.*167G>T (n.*167G>T) n.2406G>T | |
16 | g.15750212C>G | CA394868976 | MYH11 | c.1984G>C (p.Gly662Arg) c.2005G>C (p.Gly669Arg) c.*167G>C (n.*167G>C) n.2406G>C | |
16 | g.15750212C>T | CA394868977 | MYH11 | c.1984G>A (p.Gly662Ser) c.2005G>A (p.Gly669Ser) c.*167G>A (n.*167G>A) n.2406G>A | |
16 | g.15750213C>A | CA493792850 | MYH11 | c.1983G>T (p.Leu661=) c.2004G>T (p.Leu668=) c.*166G>T (n.*166G>T) n.2405G>T | dbSNP COSMIC COSMIC |
16 | g.15750213C= | CA2209930427 | MYH11 | c.1983G= (p.Leu661=) c.2004G= (p.Leu668=) c.*166G= (n.*166G=) n.2405G= | |
16 | g.15750213C>G | CA493792851 | MYH11 | c.1983G>C (p.Leu661=) c.2004G>C (p.Leu668=) c.*166G>C (n.*166G>C) n.2405G>C | gnomAD v4 |
16 | g.15750213C>T | CA278638569 | MYH11 | c.1983G>A (p.Leu661=) c.2004G>A (p.Leu668=) c.*166G>A (n.*166G>A) n.2405G>A | ClinVar dbSNP gnomAD v4 |
16 | g.15750214A>C | CA394868978 | MYH11 | c.1982T>G (p.Leu661Arg) c.2003T>G (p.Leu668Arg) c.*165T>G (n.*165T>G) n.2404T>G | |
16 | g.15750214A>G | CA394868979 | MYH11 | c.1982T>C (p.Leu661Pro) c.2003T>C (p.Leu668Pro) c.*165T>C (n.*165T>C) n.2404T>C | |
16 | g.15750214A>T | CA394868980 | MYH11 | c.1982T>A (p.Leu661Gln) c.2003T>A (p.Leu668Gln) c.*165T>A (n.*165T>A) n.2404T>A | |
16 | g.15750215G>A | CA493792852 | MYH11 | c.1981C>T (p.Leu661=) c.2002C>T (p.Leu668=) c.*164C>T (n.*164C>T) n.2403C>T | ClinVar dbSNP gnomAD v4 |
16 | g.15750215G>C | CA394868981 | MYH11 | c.1981C>G (p.Leu661Val) c.2002C>G (p.Leu668Val) c.*164C>G (n.*164C>G) n.2403C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.15750215G= | CA2209930428 | MYH11 | c.1981C= (p.Leu661=) c.2002C= (p.Leu668=) c.*164C= (n.*164C=) n.2403C= | |
16 | g.15750215G>T | CA394868982 | MYH11 | c.1981C>A (p.Leu661Met) c.2002C>A (p.Leu668Met) c.*164C>A (n.*164C>A) n.2403C>A | |
16 | g.15750216C>A | CA394868983 | MYH11 | c.1980G>T (p.Gln660His) c.2001G>T (p.Gln667His) c.*163G>T (n.*163G>T) n.2402G>T | |
16 | g.15750216C>G | CA394868984 | MYH11 | c.1980G>C (p.Gln660His) c.2001G>C (p.Gln667His) c.*163G>C (n.*163G>C) n.2402G>C | gnomAD v4 |
16 | g.15750216C>T | CA493792856 | MYH11 | c.1980G>A (p.Gln660=) c.2001G>A (p.Gln667=) c.*163G>A (n.*163G>A) n.2402G>A | |
16 | g.15750217T>A | CA394868985 | MYH11 | c.1979A>T (p.Gln660Leu) c.2000A>T (p.Gln667Leu) c.*162A>T (n.*162A>T) n.2401A>T | |
16 | g.15750217T>C | CA394868986 | MYH11 | c.1979A>G (p.Gln660Arg) c.2000A>G (p.Gln667Arg) c.*162A>G (n.*162A>G) n.2401A>G | |
16 | g.15750217T>G | CA394868987 | MYH11 | c.1979A>C (p.Gln660Pro) c.2000A>C (p.Gln667Pro) c.*162A>C (n.*162A>C) n.2401A>C | |
16 | g.15750218G>A | CA394868988 | MYH11 | c.1978C>T (p.Gln660Ter) c.1999C>T (p.Gln667Ter) c.*161C>T (n.*161C>T) n.2400C>T | |
16 | g.15750218G>C | CA394868990 | MYH11 | c.1978C>G (p.Gln660Glu) c.1999C>G (p.Gln667Glu) c.*161C>G (n.*161C>G) n.2400C>G | |
16 | g.15750218G>T | CA394868989 | MYH11 | c.1978C>A (p.Gln660Lys) c.1999C>A (p.Gln667Lys) c.*161C>A (n.*161C>A) n.2400C>A | |
16 | g.15750219C>A | CA394868991 | MYH11 | c.1977G>T (p.Glu659Asp) c.1998G>T (p.Glu666Asp) c.*160G>T (n.*160G>T) n.2399G>T | |
16 | g.15750219C>G | CA394868992 | MYH11 | c.1977G>C (p.Glu659Asp) c.1998G>C (p.Glu666Asp) c.*160G>C (n.*160G>C) n.2399G>C | |
16 | g.15750219C>T | CA493792858 | MYH11 | c.1977G>A (p.Glu659=) c.1998G>A (p.Glu666=) c.*160G>A (n.*160G>A) n.2399G>A | |
16 | g.15750220T>A | CA394868993 | MYH11 | c.1976A>T (p.Glu659Val) c.1997A>T (p.Glu666Val) c.*159A>T (n.*159A>T) n.2398A>T | |
16 | g.15750220T>C | CA394868994 | MYH11 | c.1976A>G (p.Glu659Gly) c.1997A>G (p.Glu666Gly) c.*159A>G (n.*159A>G) n.2398A>G | |
16 | g.15750220T>G | CA394868995 | MYH11 | c.1976A>C (p.Glu659Ala) c.1997A>C (p.Glu666Ala) c.*159A>C (n.*159A>C) n.2398A>C | |
16 | g.15750221C>A | CA394868996 | MYH11 | c.1975G>T (p.Glu659Ter) c.1996G>T (p.Glu666Ter) c.*158G>T (n.*158G>T) n.2397G>T | |
16 | g.15750221C>G | CA394868997 | MYH11 | c.1975G>C (p.Glu659Gln) c.1996G>C (p.Glu666Gln) c.*158G>C (n.*158G>C) n.2397G>C | |
16 | g.15750221C>T | CA394868998 | MYH11 | c.1975G>A (p.Glu659Lys) c.1996G>A (p.Glu666Lys) c.*158G>A (n.*158G>A) n.2397G>A | |
16 | g.15750222C>A | CA394868999 | MYH11 | c.1974G>T (p.Lys658Asn) c.1995G>T (p.Lys665Asn) c.*157G>T (n.*157G>T) n.2396G>T | |
16 | g.15750222C= | CA2209930429 | MYH11 | c.1974G= (p.Lys658=) c.1995G= (p.Lys665=) c.*157G= (n.*157G=) n.2396G= | |
16 | g.15750222C>G | CA394869000 | MYH11 | c.1974G>C (p.Lys658Asn) c.1995G>C (p.Lys665Asn) c.*157G>C (n.*157G>C) n.2396G>C | |
16 | g.15750222C>T | CA493792862 | MYH11 | c.1974G>A (p.Lys658=) c.1995G>A (p.Lys665=) c.*157G>A (n.*157G>A) n.2396G>A | dbSNP |
16 | g.15750223T>A | CA394869003 | MYH11 | c.1973A>T (p.Lys658Met) c.1994A>T (p.Lys665Met) c.*156A>T (n.*156A>T) n.2395A>T | |
16 | g.15750223T>C | CA394869002 | MYH11 | c.1973A>G (p.Lys658Arg) c.1994A>G (p.Lys665Arg) c.*156A>G (n.*156A>G) n.2395A>G | |
16 | g.15750223T>G | CA394869001 | MYH11 | c.1973A>C (p.Lys658Thr) c.1994A>C (p.Lys665Thr) c.*156A>C (n.*156A>C) n.2395A>C | |
16 | g.15750224T>A | CA394869004 | MYH11 | c.1972A>T (p.Lys658Ter) c.1993A>T (p.Lys665Ter) c.*155A>T (n.*155A>T) n.2394A>T | |
16 | g.15750224T>C | CA394869006 | MYH11 | c.1972A>G (p.Lys658Glu) c.1993A>G (p.Lys665Glu) c.*155A>G (n.*155A>G) n.2394A>G | |
16 | g.15750224T>G | CA394869005 | MYH11 | c.1972A>C (p.Lys658Gln) c.1993A>C (p.Lys665Gln) c.*155A>C (n.*155A>C) n.2394A>C | |
16 | g.15750225G>A | CA493792865 | MYH11 | c.1971C>T (p.Tyr657=) c.1992C>T (p.Tyr664=) c.*154C>T (n.*154C>T) n.2393C>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.15750225G>C | CA394869007 | MYH11 | c.1971C>G (p.Tyr657Ter) c.1992C>G (p.Tyr664Ter) c.*154C>G (n.*154C>G) n.2393C>G | |
16 | g.15750225G= | CA2209930430 | MYH11 | c.1971C= (p.Tyr657=) c.1992C= (p.Tyr664=) c.*154C= (n.*154C=) n.2393C= | |
16 | g.15750225G>T | CA394869008 | MYH11 | c.1971C>A (p.Tyr657Ter) c.1992C>A (p.Tyr664Ter) c.*154C>A (n.*154C>A) n.2393C>A | |
16 | g.15750226T>A | CA394869009 | MYH11 | c.1970A>T (p.Tyr657Phe) c.1991A>T (p.Tyr664Phe) c.*153A>T (n.*153A>T) n.2392A>T | |
16 | g.15750226T>C | CA394869010 | MYH11 | c.1970A>G (p.Tyr657Cys) c.1991A>G (p.Tyr664Cys) c.*153A>G (n.*153A>G) n.2392A>G | gnomAD v4 |
16 | g.15750226T>G | CA394869011 | MYH11 | c.1970A>C (p.Tyr657Ser) c.1991A>C (p.Tyr664Ser) c.*153A>C (n.*153A>C) n.2392A>C | |
16 | g.15750227A>C | CA394869012 | MYH11 | c.1969T>G (p.Tyr657Asp) c.1990T>G (p.Tyr664Asp) c.*152T>G (n.*152T>G) n.2391T>G | |
16 | g.15750227A>G | CA394869013 | MYH11 | c.1969T>C (p.Tyr657His) c.1990T>C (p.Tyr664His) c.*152T>C (n.*152T>C) n.2391T>C | |
16 | g.15750227A>T | CA394869014 | MYH11 | c.1969T>A (p.Tyr657Asn) c.1990T>A (p.Tyr664Asn) c.*152T>A (n.*152T>A) n.2391T>A | |
16 | g.15750228C>A | CA493792866 | MYH11 | c.1968G>T (p.Leu656=) c.1989G>T (p.Leu663=) c.*151G>T (n.*151G>T) n.2390G>T | |
16 | g.15750228C= | CA2209930431 | MYH11 | c.1968G= (p.Leu656=) c.1989G= (p.Leu663=) c.*151G= (n.*151G=) n.2390G= | |
16 | g.15750228C>G | CA493792867 | MYH11 | c.1968G>C (p.Leu656=) c.1989G>C (p.Leu663=) c.*151G>C (n.*151G>C) n.2390G>C | |
16 | g.15750228C>T | CA7922461 | MYH11 | c.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 |
16 | g.15750229A>C | CA394869015 | MYH11 | c.1967T>G (p.Leu656Arg) c.1988T>G (p.Leu663Arg) c.*150T>G (n.*150T>G) n.2389T>G | |
16 | g.15750229A>G | CA394869016 | MYH11 | c.1967T>C (p.Leu656Pro) c.1988T>C (p.Leu663Pro) c.*150T>C (n.*150T>C) n.2389T>C | |
16 | g.15750229A>T | CA394869017 | MYH11 | c.1967T>A (p.Leu656Gln) c.1988T>A (p.Leu663Gln) c.*150T>A (n.*150T>A) n.2389T>A | |
16 | g.15750230G>A | CA493792871 | MYH11 | c.1966C>T (p.Leu656=) c.1987C>T (p.Leu663=) c.*149C>T (n.*149C>T) n.2388C>T | dbSNP gnomAD v4 |
16 | g.15750230G>C | CA394869018 | MYH11 | c.1966C>G (p.Leu656Val) c.1987C>G (p.Leu663Val) c.*149C>G (n.*149C>G) n.2388C>G | |
16 | g.15750230G= | CA2209930432 | MYH11 | c.1966C= (p.Leu656=) c.1987C= (p.Leu663=) c.*149C= (n.*149C=) n.2388C= | |
16 | g.15750230G>T | CA394869019 | MYH11 | c.1966C>A (p.Leu656Met) c.1987C>A (p.Leu663Met) c.*149C>A (n.*149C>A) n.2388C>A | |
16 | g.15750231C>A | CA394869020 | MYH11 | c.1965G>T (p.Gln655His) c.1986G>T (p.Gln662His) c.*148G>T (n.*148G>T) n.2387G>T | ClinVar dbSNP gnomAD v4 |
16 | g.15750231C= | CA2209930433 | MYH11 | c.1965G= (p.Gln655=) c.1986G= (p.Gln662=) c.*148G= (n.*148G=) n.2387G= | |
16 | g.15750231C>G | CA394869021 | MYH11 | c.1965G>C (p.Gln655His) c.1986G>C (p.Gln662His) c.*148G>C (n.*148G>C) n.2387G>C | |
16 | g.15750231C>T | CA493792872 | MYH11 | c.1965G>A (p.Gln655=) c.1986G>A (p.Gln662=) c.*148G>A (n.*148G>A) n.2387G>A | |
16 | g.15750232T>A | CA394869022 | MYH11 | c.1964A>T (p.Gln655Leu) c.1985A>T (p.Gln662Leu) c.*147A>T (n.*147A>T) n.2386A>T | |
16 | g.15750232T>C | CA394869023 | MYH11 | c.1964A>G (p.Gln655Arg) c.1985A>G (p.Gln662Arg) c.*147A>G (n.*147A>G) n.2386A>G | |
16 | g.15750232T>G | CA7922462 | MYH11 | c.1964A>C (p.Gln655Pro) c.1985A>C (p.Gln662Pro) c.*147A>C (n.*147A>C) n.2386A>C | dbSNP ExAC gnomAD v2 |
16 | g.15750232T= | CA2209930434 | MYH11 | c.1964A= (p.Gln655=) c.1985A= (p.Gln662=) c.*147A= (n.*147A=) n.2386A= | |
16 | g.15750233G>A | CA394869024 | MYH11 | c.1963C>T (p.Gln655Ter) c.1984C>T (p.Gln662Ter) c.*146C>T (n.*146C>T) n.2385C>T | |
16 | g.15750233G>C | CA394869025 | MYH11 | c.1963C>G (p.Gln655Glu) c.1984C>G (p.Gln662Glu) c.*146C>G (n.*146C>G) n.2385C>G | |
16 | g.15750233G>T | CA394869026 | MYH11 | c.1963C>A (p.Gln655Lys) c.1984C>A (p.Gln662Lys) c.*146C>A (n.*146C>A) n.2385C>A | |
16 | g.15750234C>A | CA493792874 | MYH11 | c.1962G>T (p.Gly654=) c.1983G>T (p.Gly661=) c.*145G>T (n.*145G>T) n.2384G>T | |
16 | g.15750234C>G | CA493792875 | MYH11 | c.1962G>C (p.Gly654=) c.1983G>C (p.Gly661=) c.*145G>C (n.*145G>C) n.2384G>C | |
16 | g.15750234C>T | CA493792876 | MYH11 | c.1962G>A (p.Gly654=) c.1983G>A (p.Gly661=) c.*145G>A (n.*145G>A) n.2384G>A | |
16 | g.15750237dup | CA2838314401 | MYH11 | c.1962dup (p.Gln655AlafsTer?) c.1983dup (p.Gln662AlafsTer?) c.*145dup (n.*145dup) n.2384dup | |
16 | g.15750235C>A | CA394869027 | MYH11 | c.1961G>T (p.Gly654Val) c.1982G>T (p.Gly661Val) c.*144G>T (n.*144G>T) n.2383G>T | |
16 | g.15750235C>G | CA394869028 | MYH11 | c.1961G>C (p.Gly654Ala) c.1982G>C (p.Gly661Ala) c.*144G>C (n.*144G>C) n.2383G>C | |
16 | g.15750235C>T | CA394869029 | MYH11 | c.1961G>A (p.Gly654Glu) c.1982G>A (p.Gly661Glu) c.*144G>A (n.*144G>A) n.2383G>A | |
16 | g.15750236C>A | CA394869030 | MYH11 | c.1960G>T (p.Gly654Trp) c.1981G>T (p.Gly661Trp) c.*143G>T (n.*143G>T) n.2382G>T | dbSNP gnomAD v4 |
16 | g.15750236C= | CA2209930435 | MYH11 | c.1960G= (p.Gly654=) c.1981G= (p.Gly661=) c.*143G= (n.*143G=) n.2382G= | |
16 | g.15750236C>G | CA394869031 | MYH11 | c.1960G>C (p.Gly654Arg) c.1981G>C (p.Gly661Arg) c.*143G>C (n.*143G>C) n.2382G>C | |
16 | g.15750236C>T | CA394869032 | MYH11 | c.1960G>A (p.Gly654Arg) c.1981G>A (p.Gly661Arg) c.*143G>A (n.*143G>A) n.2382G>A | |
16 | g.15750237C>A | CA493792881 | MYH11 | c.1959G>T (p.Val653=) c.1980G>T (p.Val660=) c.*142G>T (n.*142G>T) n.2381G>T | |
16 | g.15750237C>G | CA493792880 | MYH11 | c.1959G>C (p.Val653=) c.1980G>C (p.Val660=) c.*142G>C (n.*142G>C) n.2381G>C | |
16 | g.15750237C>T | CA493792879 | MYH11 | c.1959G>A (p.Val653=) c.1980G>A (p.Val660=) c.*142G>A (n.*142G>A) n.2381G>A | gnomAD v4 |
16 | g.15750238A= | CA2209930436 | MYH11 | c.1958T= (p.Val653=) c.1979T= (p.Val660=) c.*141T= (n.*141T=) n.2380T= | |
16 | g.15750238A>C | CA394869033 | MYH11 | c.1958T>G (p.Val653Gly) c.1979T>G (p.Val660Gly) c.*141T>G (n.*141T>G) n.2380T>G | |
16 | g.15750238A>G | CA394869034 | MYH11 | c.1958T>C (p.Val653Ala) c.1979T>C (p.Val660Ala) c.*141T>C (n.*141T>C) n.2380T>C | dbSNP |
16 | g.15750238A>T | CA394869035 | MYH11 | c.1958T>A (p.Val653Glu) c.1979T>A (p.Val660Glu) c.*141T>A (n.*141T>A) n.2380T>A | |
16 | g.15750239C>A | CA394869036 | MYH11 | c.1957G>T (p.Val653Leu) c.1978G>T (p.Val660Leu) c.*140G>T (n.*140G>T) n.2379G>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.15750239C= | CA2209930437 | MYH11 | c.1957G= (p.Val653=) c.1978G= (p.Val660=) c.*140G= (n.*140G=) n.2379G= | |
16 | g.15750239C>G | CA394869038 | MYH11 | c.1957G>C (p.Val653Leu) c.1978G>C (p.Val660Leu) c.*140G>C (n.*140G>C) n.2379G>C | |
16 | g.15750239C>T | CA394869037 | MYH11 | c.1957G>A (p.Val653Met) c.1978G>A (p.Val660Met) c.*140G>A (n.*140G>A) n.2379G>A | |
16 | g.15750240T>A | CA493792885 | MYH11 | c.1956A>T (p.Thr652=) c.1977A>T (p.Thr659=) c.*139A>T (n.*139A>T) n.2378A>T | |
16 | g.15750240T>C | CA7922463 | MYH11 | c.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 |
16 | g.15750240T>G | CA493792886 | MYH11 | c.1956A>C (p.Thr652=) c.1977A>C (p.Thr659=) c.*139A>C (n.*139A>C) n.2378A>C | gnomAD v4 |
16 | g.15750240T= | CA2209930438 | MYH11 | c.1956A= (p.Thr652=) c.1977A= (p.Thr659=) c.*139A= (n.*139A=) n.2378A= | |
16 | g.15750241G>A | CA394869039 | MYH11 | c.1955C>T (p.Thr652Ile) c.1976C>T (p.Thr659Ile) c.*138C>T (n.*138C>T) n.2377C>T | |
16 | g.15750241G>C | CA394869040 | MYH11 | c.1955C>G (p.Thr652Arg) c.1976C>G (p.Thr659Arg) c.*138C>G (n.*138C>G) n.2377C>G | |
16 | g.15750241G>T | CA394869041 | MYH11 | c.1955C>A (p.Thr652Lys) c.1976C>A (p.Thr659Lys) c.*138C>A (n.*138C>A) n.2377C>A | |
16 | g.15750242T>A | CA394869042 | MYH11 | c.1954A>T (p.Thr652Ser) c.1975A>T (p.Thr659Ser) c.*137A>T (n.*137A>T) n.2376A>T | |
16 | g.15750242T>C | CA394869043 | MYH11 | c.1954A>G (p.Thr652Ala) c.1975A>G (p.Thr659Ala) c.*137A>G (n.*137A>G) n.2376A>G | |
16 | g.15750242T>G | CA394869044 | MYH11 | c.1954A>C (p.Thr652Pro) c.1975A>C (p.Thr659Pro) c.*137A>C (n.*137A>C) n.2376A>C | |
16 | g.15750243G>A | CA493792888 | MYH11 | c.1953C>T (p.Arg651=) c.1974C>T (p.Arg658=) c.*136C>T (n.*136C>T) n.2375C>T | ClinVar gnomAD v4 |
16 | g.15750243G>C | CA493792889 | MYH11 | c.1953C>G (p.Arg651=) c.1974C>G (p.Arg658=) c.*136C>G (n.*136C>G) n.2375C>G | |
16 | g.15750243G>T | CA493792890 | MYH11 | c.1953C>A (p.Arg651=) c.1974C>A (p.Arg658=) c.*136C>A (n.*136C>A) n.2375C>A | |
16 | g.15750244C>A | CA394869045 | MYH11 | c.1952G>T (p.Arg651Leu) c.1973G>T (p.Arg658Leu) c.*135G>T (n.*135G>T) n.2374G>T | |
16 | g.15750244C= | CA2209930439 | MYH11 | c.1952G= (p.Arg651=) c.1973G= (p.Arg658=) c.*135G= (n.*135G=) n.2374G= | |
16 | g.15750244C>G | CA394869046 | MYH11 | c.1952G>C (p.Arg651Pro) c.1973G>C (p.Arg658Pro) c.*135G>C (n.*135G>C) n.2374G>C | |
16 | g.15750244C>T | CA394869047 | MYH11 | c.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 |
16 | g.15750245G>A | CA394869048 | MYH11 | c.1951C>T (p.Arg651Cys) c.1972C>T (p.Arg658Cys) c.*134C>T (n.*134C>T) n.2373C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.15750245G>C | CA394869049 | MYH11 | c.1951C>G (p.Arg651Gly) c.1972C>G (p.Arg658Gly) c.*134C>G (n.*134C>G) n.2373C>G | dbSNP gnomAD v4 |
16 | g.15750245G= | CA2209930440 | MYH11 | c.1951C= (p.Arg651=) c.1972C= (p.Arg658=) c.*134C= (n.*134C=) n.2373C= | |
16 | g.15750245G>T | CA394869050 | MYH11 | c.1951C>A (p.Arg651Ser) c.1972C>A (p.Arg658Ser) c.*134C>A (n.*134C>A) n.2373C>A | |
16 | g.15750246G>A | CA493792894 | MYH11 | c.1950C>T (p.Phe650=) c.1971C>T (p.Phe657=) c.*133C>T (n.*133C>T) n.2372C>T | ClinVar dbSNP |
16 | g.15750246G>C | CA394869052 | MYH11 | c.1950C>G (p.Phe650Leu) c.1971C>G (p.Phe657Leu) c.*133C>G (n.*133C>G) n.2372C>G | |
16 | g.15750246G= | CA2209930441 | MYH11 | c.1950C= (p.Phe650=) c.1971C= (p.Phe657=) c.*133C= (n.*133C=) n.2372C= | |
16 | g.15750246G>T | CA394869051 | MYH11 | c.1950C>A (p.Phe650Leu) c.1971C>A (p.Phe657Leu) c.*133C>A (n.*133C>A) n.2372C>A | |
16 | g.15750247A>C | CA394869053 | MYH11 | c.1949T>G (p.Phe650Cys) c.1970T>G (p.Phe657Cys) c.*132T>G (n.*132T>G) n.2371T>G | |
16 | g.15750247A>G | CA394869054 | MYH11 | c.1949T>C (p.Phe650Ser) c.1970T>C (p.Phe657Ser) c.*132T>C (n.*132T>C) n.2371T>C | |
16 | g.15750247A>T | CA394869055 | MYH11 | c.1949T>A (p.Phe650Tyr) c.1970T>A (p.Phe657Tyr) c.*132T>A (n.*132T>A) n.2371T>A | |
16 | g.15750248A>C | CA394869056 | MYH11 | c.1948T>G (p.Phe650Val) c.1969T>G (p.Phe657Val) c.*131T>G (n.*131T>G) n.2370T>G | |
16 | g.15750248A>G | CA394869057 | MYH11 | c.1948T>C (p.Phe650Leu) c.1969T>C (p.Phe657Leu) c.*131T>C (n.*131T>C) n.2370T>C | |
16 | g.15750248A>T | CA394869058 | MYH11 | c.1948T>A (p.Phe650Ile) c.1969T>A (p.Phe657Ile) c.*131T>A (n.*131T>A) n.2370T>A | |
16 | g.15750249C>A | CA394869059 | MYH11 | c.1947G>T (p.Met649Ile) c.1968G>T (p.Met656Ile) c.*130G>T (n.*130G>T) n.2369G>T | |
16 | g.15750249C>G | CA394869060 | MYH11 | c.1947G>C (p.Met649Ile) c.1968G>C (p.Met656Ile) c.*130G>C (n.*130G>C) n.2369G>C | |
16 | g.15750249C>T | CA394869061 | MYH11 | c.1947G>A (p.Met649Ile) c.1968G>A (p.Met656Ile) c.*130G>A (n.*130G>A) n.2369G>A | gnomAD v4 |
16 | g.15750250A>C | CA394869062 | MYH11 | c.1946T>G (p.Met649Arg) c.1967T>G (p.Met656Arg) c.*129T>G (n.*129T>G) n.2368T>G | |
16 | g.15750250A>G | CA394869063 | MYH11 | c.1946T>C (p.Met649Thr) c.1967T>C (p.Met656Thr) c.*129T>C (n.*129T>C) n.2368T>C | ClinVar |
16 | g.15750250A>T | CA394869064 | MYH11 | c.1946T>A (p.Met649Lys) c.1967T>A (p.Met656Lys) c.*129T>A (n.*129T>A) n.2368T>A | |
16 | g.15750251T>A | CA394869065 | MYH11 | c.1945A>T (p.Met649Leu) c.1966A>T (p.Met656Leu) c.*128A>T (n.*128A>T) n.2367A>T | gnomAD v4 |
16 | g.15750251T>C | CA394869067 | MYH11 | c.1945A>G (p.Met649Val) c.1966A>G (p.Met656Val) c.*128A>G (n.*128A>G) n.2367A>G | |
16 | g.15750251T>G | CA394869066 | MYH11 | c.1945A>C (p.Met649Leu) c.1966A>C (p.Met656Leu) c.*128A>C (n.*128A>C) n.2367A>C | |
16 | g.15750252G>A | CA493792901 | MYH11 | c.1944C>T (p.Gly648=) c.1965C>T (p.Gly655=) c.*127C>T (n.*127C>T) n.2366C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.15750252G>C | CA493792900 | MYH11 | c.1944C>G (p.Gly648=) c.1965C>G (p.Gly655=) c.*127C>G (n.*127C>G) n.2366C>G | |
16 | g.15750252G= | CA2209930442 | MYH11 | c.1944C= (p.Gly648=) c.1965C= (p.Gly655=) c.*127C= (n.*127C=) n.2366C= | |
16 | g.15750252G>T | CA493792899 | MYH11 | c.1944C>A (p.Gly648=) c.1965C>A (p.Gly655=) c.*127C>A (n.*127C>A) n.2366C>A | |
16 | g.15750253C>A | CA394869068 | MYH11 | c.1943G>T (p.Gly648Val) c.1964G>T (p.Gly655Val) c.*126G>T (n.*126G>T) n.2365G>T | |
16 | g.15750253C>G | CA394869070 | MYH11 | c.1943G>C (p.Gly648Ala) c.1964G>C (p.Gly655Ala) c.*126G>C (n.*126G>C) n.2365G>C | |
16 | g.15750253C>T | CA394869069 | MYH11 | c.1943G>A (p.Gly648Asp) c.1964G>A (p.Gly655Asp) c.*126G>A (n.*126G>A) n.2365G>A | |
16 | g.15750254C>A | CA394869071 | MYH11 | c.1942G>T (p.Gly648Cys) c.1963G>T (p.Gly655Cys) c.*125G>T (n.*125G>T) n.2364G>T | |
16 | g.15750254C>G | CA394869072 | MYH11 | c.1942G>C (p.Gly648Arg) c.1963G>C (p.Gly655Arg) c.*125G>C (n.*125G>C) n.2364G>C | |
16 | g.15750254C>T | CA394869073 | MYH11 | c.1942G>A (p.Gly648Ser) c.1963G>A (p.Gly655Ser) c.*125G>A (n.*125G>A) n.2364G>A | |
16 | g.15750255C>A | CA394869074 | MYH11 | c.1941G>T (p.Lys647Asn) c.1962G>T (p.Lys654Asn) c.*124G>T (n.*124G>T) n.2363G>T | |
16 | g.15750255C>G | CA394869075 | MYH11 | c.1941G>C (p.Lys647Asn) c.1962G>C (p.Lys654Asn) c.*124G>C (n.*124G>C) n.2363G>C | |
16 | g.15750255C>T | CA493792903 | MYH11 | c.1941G>A (p.Lys647=) c.1962G>A (p.Lys654=) c.*124G>A (n.*124G>A) n.2363G>A | COSMIC COSMIC |
16 | g.15750256T>A | CA394869076 | MYH11 | c.1940A>T (p.Lys647Met) c.1961A>T (p.Lys654Met) c.*123A>T (n.*123A>T) n.2362A>T | |
16 | g.15750256T>C | CA394869077 | MYH11 | c.1940A>G (p.Lys647Arg) c.1961A>G (p.Lys654Arg) c.*123A>G (n.*123A>G) n.2362A>G | |
16 | g.15750256T>G | CA394869078 | MYH11 | c.1940A>C (p.Lys647Thr) c.1961A>C (p.Lys654Thr) c.*123A>C (n.*123A>C) n.2362A>C | |
16 | g.15750257T>A | CA394869079 | MYH11 | c.1939A>T (p.Lys647Ter) c.1960A>T (p.Lys654Ter) c.*122A>T (n.*122A>T) n.2361A>T | |
16 | g.15750257T>C | CA394869080 | MYH11 | c.1939A>G (p.Lys647Glu) c.1960A>G (p.Lys654Glu) c.*122A>G (n.*122A>G) n.2361A>G | gnomAD v4 |
16 | g.15750257T>G | CA394869081 | MYH11 | c.1939A>C (p.Lys647Gln) c.1960A>C (p.Lys654Gln) c.*122A>C (n.*122A>C) n.2361A>C | |
16 | g.15750258C>A | CA394869083 | MYH11 | c.1938G>T (p.Lys646Asn) c.1959G>T (p.Lys653Asn) c.*121G>T (n.*121G>T) n.2360G>T | |
16 | g.15750258C>G | CA394869082 | MYH11 | c.1938G>C (p.Lys646Asn) c.1959G>C (p.Lys653Asn) c.*121G>C (n.*121G>C) n.2360G>C | |
16 | g.15750258C>T | CA493792907 | MYH11 | c.1938G>A (p.Lys646=) c.1959G>A (p.Lys653=) c.*121G>A (n.*121G>A) n.2360G>A | |
16 | g.15750259T>A | CA394869084 | MYH11 | c.1937A>T (p.Lys646Met) c.1958A>T (p.Lys653Met) c.*120A>T (n.*120A>T) n.2359A>T | |
16 | g.15750259T>C | CA394869085 | MYH11 | c.1937A>G (p.Lys646Arg) c.1958A>G (p.Lys653Arg) c.*120A>G (n.*120A>G) n.2359A>G | dbSNP gnomAD v4 |
16 | g.15750259T>G | CA394869086 | MYH11 | c.1937A>C (p.Lys646Thr) c.1958A>C (p.Lys653Thr) c.*120A>C (n.*120A>C) n.2359A>C | |
16 | g.15750259T= | CA2209930443 | MYH11 | c.1937A= (p.Lys646=) c.1958A= (p.Lys653=) c.*120A= (n.*120A=) n.2359A= | |
16 | g.15750260T>A | CA394869087 | MYH11 | c.1936A>T (p.Lys646Ter) c.1957A>T (p.Lys653Ter) c.*119A>T (n.*119A>T) n.2358A>T | |
16 | g.15750260T>C | CA394869088 | MYH11 | c.1936A>G (p.Lys646Glu) c.1957A>G (p.Lys653Glu) c.*119A>G (n.*119A>G) n.2358A>G | |
16 | g.15750260T>G | CA394869089 | MYH11 | c.1936A>C (p.Lys646Gln) c.1957A>C (p.Lys653Gln) c.*119A>C (n.*119A>C) n.2358A>C | |
16 | g.15750261G>A | CA493792909 | MYH11 | c.1935C>T (p.Thr645=) c.1956C>T (p.Thr652=) c.*118C>T (n.*118C>T) n.2357C>T | |
16 | g.15750261G>C | CA493792910 | MYH11 | c.1935C>G (p.Thr645=) c.1956C>G (p.Thr652=) c.*118C>G (n.*118C>G) n.2357C>G | |
16 | g.15750261G>T | CA493792911 | MYH11 | c.1935C>A (p.Thr645=) c.1956C>A (p.Thr652=) c.*118C>A (n.*118C>A) n.2357C>A | |
16 | g.15750262G>A | CA394869090 | MYH11 | c.1934C>T (p.Thr645Ile) c.1955C>T (p.Thr652Ile) c.*117C>T (n.*117C>T) n.2356C>T | |
16 | g.15750262G>C | CA394869091 | MYH11 | c.1934C>G (p.Thr645Ser) c.1955C>G (p.Thr652Ser) c.*117C>G (n.*117C>G) n.2356C>G | |
16 | g.15750262G>T | CA394869092 | MYH11 | c.1934C>A (p.Thr645Asn) c.1955C>A (p.Thr652Asn) c.*117C>A (n.*117C>A) n.2356C>A | |
16 | g.15750263T>A | CA394869093 | MYH11 | c.1933A>T (p.Thr645Ser) c.1954A>T (p.Thr652Ser) c.*116A>T (n.*116A>T) n.2355A>T | |
16 | g.15750263T>C | CA394869094 | MYH11 | c.1933A>G (p.Thr645Ala) c.1954A>G (p.Thr652Ala) c.*116A>G (n.*116A>G) n.2355A>G | |
16 | g.15750263T>G | CA394869095 | MYH11 | c.1933A>C (p.Thr645Pro) c.1954A>C (p.Thr652Pro) c.*116A>C (n.*116A>C) n.2355A>C | |
16 | g.15750264C>A | CA394869097 | MYH11 | c.1932G>T (p.Lys644Asn) c.1953G>T (p.Lys651Asn) c.*115G>T (n.*115G>T) n.2354G>T | |
16 | g.15750264C>G | CA394869096 | MYH11 | c.1932G>C (p.Lys644Asn) c.1953G>C (p.Lys651Asn) c.*115G>C (n.*115G>C) n.2354G>C | |
16 | g.15750264C>T | CA493792915 | MYH11 | c.1932G>A (p.Lys644=) c.1953G>A (p.Lys651=) c.*115G>A (n.*115G>A) n.2354G>A | ClinVar |
16 | g.15750264_15750265insCAAGAAGGGCGTCTTCTACAAGCAAGAAGGGCGTGTTCTTAATCGCTATTCGTAACATCTTGATTTCGTGTAGGTTATAAAAGTAATTGTAAGGTACGTTAAACGCTTATTTAGAGGATGTTTCT | CA2806025578 | MYH11 | c.1931_1932insAGAAACATCCTCTAAATAAGCGTTTAACGTACCTTACAATTACTTTTATAACCTACACGAAATCAAGATGTTACGAATAGCGATTAAGAACACGCCCTTCTTGCTTGTAGAAGACGCCCTTCTTG (p.Thr645GlufsTer6) c.1952_1953insAGAAACATCCTCTAAATAAGCGTTTAACGTACCTTACAATTACTTTTATAACCTACACGAAATCAAGATGTTACGAATAGCGATTAAGAACACGCCCTTCTTGCTTGTAGAAGACGCCCTTCTTG (p.Thr652GlufsTer6) c.*114_*115insAGAAACATCCTCTAAATAAGCGTTTAACGTACCTTACAATTACTTTTATAACCTACACGAAATCAAGATGTTACGAATAGCGATTAAGAACACGCCCTTCTTGCTTGTAGAAGACGCCCTTCTTG (n.*114_*115insAGAAACATCCTCTAAATAAGCGTTTAACGTACCTTACAATTACTTTTATAACCTACACGAAATCAAGATGTTACGAATAGCGATTAAGAACACGCCCTTCTTGCTTGTAGAAGACGCCCTTCTTG) n.2353_2354insAGAAACATCCTCTAAATAAGCGTTTAACGTACCTTACAATTACTTTTATAACCTACACGAAATCAAGATGTTACGAATAGCGATTAAGAACACGCCCTTCTTGCTTGTAGAAGACGCCCTTCTTG | |
16 | g.15750264_15750265insCAAGAAGGGCGTCTTCTACGAGCAAGAAGGGCGTGGTCTTAAGCGCTAAGTGTAAAGTTCTGATTTCCTGTGGGTTATATATTTGATTATAGGGAGTGCTGTAGGGTAGTTTTGAGGGTGATAGGCTCGG | CA2520743454 | MYH11 | c.1931_1932insCCGAGCCTATCACCCTCAAAACTACCCTACAGCACTCCCTATAATCAAATATATAACCCACAGGAAATCAGAACTTTACACTTAGCGCTTAAGACCACGCCCTTCTTGCTCGTAGAAGACGCCCTTCTTG (p.Lys644AsnfsTer29) c.1952_1953insCCGAGCCTATCACCCTCAAAACTACCCTACAGCACTCCCTATAATCAAATATATAACCCACAGGAAATCAGAACTTTACACTTAGCGCTTAAGACCACGCCCTTCTTGCTCGTAGAAGACGCCCTTCTTG (p.Lys651AsnfsTer29) c.*114_*115insCCGAGCCTATCACCCTCAAAACTACCCTACAGCACTCCCTATAATCAAATATATAACCCACAGGAAATCAGAACTTTACACTTAGCGCTTAAGACCACGCCCTTCTTGCTCGTAGAAGACGCCCTTCTTG (n.*114_*115insCCGAGCCTATCACCCTCAAAACTACCCTACAGCACTCCCTATAATCAAATATATAACCCACAGGAAATCAGAACTTTACACTTAGCGCTTAAGACCACGCCCTTCTTGCTCGTAGAAGACGCCCTTCTTG) n.2353_2354insCCGAGCCTATCACCCTCAAAACTACCCTACAGCACTCCCTATAATCAAATATATAACCCACAGGAAATCAGAACTTTACACTTAGCGCTTAAGACCACGCCCTTCTTGCTCGTAGAAGACGCCCTTCTTG | |
16 | g.15750265T>A | CA394869098 | MYH11 | c.1931A>T (p.Lys644Met) c.1952A>T (p.Lys651Met) c.*114A>T (n.*114A>T) n.2353A>T | |
16 | g.15750265T>C | CA394869099 | MYH11 | c.1931A>G (p.Lys644Arg) c.1952A>G (p.Lys651Arg) c.*114A>G (n.*114A>G) n.2353A>G | |
16 | g.15750265T>G | CA394869100 | MYH11 | c.1931A>C (p.Lys644Thr) c.1952A>C (p.Lys651Thr) c.*114A>C (n.*114A>C) n.2353A>C | |
16 | g.15750266T>A | CA394869101 | MYH11 | c.1930A>T (p.Lys644Ter) c.1951A>T (p.Lys651Ter) c.*113A>T (n.*113A>T) n.2352A>T | |
16 | g.15750266T>C | CA394869102 | MYH11 | c.1930A>G (p.Lys644Glu) c.1951A>G (p.Lys651Glu) c.*113A>G (n.*113A>G) n.2352A>G | |
16 | g.15750266T>G | CA394869103 | MYH11 | c.1930A>C (p.Lys644Gln) c.1951A>C (p.Lys651Gln) c.*113A>C (n.*113A>C) n.2352A>C | |
16 | g.15750267G>A | CA493792917 | MYH11 | c.1929C>T (p.Ser643=) c.1950C>T (p.Ser650=) c.*112C>T (n.*112C>T) n.2351C>T | ClinVar dbSNP |
16 | g.15750267G>C | CA493792918 | MYH11 | c.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 |
16 | g.15750267G= | CA2209930444 | MYH11 | c.1929C= (p.Ser643=) c.1950C= (p.Ser650=) c.*112C= (n.*112C=) n.2351C= | |
16 | g.15750267G>T | CA493792919 | MYH11 | c.1929C>A (p.Ser643=) c.1950C>A (p.Ser650=) c.*112C>A (n.*112C>A) n.2351C>A | |
16 | g.15750268G>A | CA394869104 | MYH11 | c.1928C>T (p.Ser643Phe) c.1949C>T (p.Ser650Phe) c.*111C>T (n.*111C>T) n.2350C>T | gnomAD v4 |
16 | g.15750268G>C | CA394869105 | MYH11 | c.1928C>G (p.Ser643Cys) c.1949C>G (p.Ser650Cys) c.*111C>G (n.*111C>G) n.2350C>G | |
16 | g.15750268G>T | CA394869106 | MYH11 | c.1928C>A (p.Ser643Tyr) c.1949C>A (p.Ser650Tyr) c.*111C>A (n.*111C>A) n.2350C>A | |
16 | g.15750269A>C | CA394869107 | MYH11 | c.1927T>G (p.Ser643Ala) c.1948T>G (p.Ser650Ala) c.*110T>G (n.*110T>G) n.2349T>G | |
16 | g.15750269A>G | CA394869108 | MYH11 | c.1927T>C (p.Ser643Pro) c.1948T>C (p.Ser650Pro) c.*110T>C (n.*110T>C) n.2349T>C | |
16 | g.15750269A>T | CA394869109 | MYH11 | c.1927T>A (p.Ser643Thr) c.1948T>A (p.Ser650Thr) c.*110T>A (n.*110T>A) n.2349T>A | |
16 | g.15750270G>A | CA278638583 | MYH11 | c.1926C>T (p.Ala642=) c.1947C>T (p.Ala649=) c.*109C>T (n.*109C>T) n.2348C>T | ClinVar dbSNP |
16 | g.15750270G>C | CA493792920 | MYH11 | c.1926C>G (p.Ala642=) c.1947C>G (p.Ala649=) c.*109C>G (n.*109C>G) n.2348C>G | ClinVar dbSNP |
16 | g.15750270G= | CA2209930445 | MYH11 | c.1926C= (p.Ala642=) c.1947C= (p.Ala649=) c.*109C= (n.*109C=) n.2348C= | |
16 | g.15750270G>T | CA493792921 | MYH11 | c.1926C>A (p.Ala642=) c.1947C>A (p.Ala649=) c.*109C>A (n.*109C>A) n.2348C>A | |
16 | g.15750271G>A | CA394869111 | MYH11 | c.1925C>T (p.Ala642Val) c.1946C>T (p.Ala649Val) c.*108C>T (n.*108C>T) n.2347C>T | |
16 | g.15750271G>C | CA394869112 | MYH11 | c.1925C>G (p.Ala642Gly) c.1946C>G (p.Ala649Gly) c.*108C>G (n.*108C>G) n.2347C>G | |
16 | g.15750271G>T | CA394869110 | MYH11 | c.1925C>A (p.Ala642Asp) c.1946C>A (p.Ala649Asp) c.*108C>A (n.*108C>A) n.2347C>A | |
16 | g.15750271_15750289delinsGCGCTGGGCAGCGAGCTCT | CA2209930446 | MYH11 | c.1907_1925delinsAGAGCTCGCTGCCCAGCGC (p.Glu636=) c.1928_1946delinsAGAGCTCGCTGCCCAGCGC (p.Glu643=) c.*90_*108delinsAGAGCTCGCTGCCCAGCGC (n.*90_*108delinsAGAGCTCGCTGCCCAGCGC) n.2329_2347delinsAGAGCTCGCTGCCCAGCGC | |
16 | g.15750272C>A | CA394869113 | MYH11 | c.1924G>T (p.Ala642Ser) c.1945G>T (p.Ala649Ser) c.*107G>T (n.*107G>T) n.2346G>T | |
16 | g.15750272C= | CA2209930447 | MYH11 | c.1924G= (p.Ala642=) c.1945G= (p.Ala649=) c.*107G= (n.*107G=) n.2346G= | |
16 | g.15750272C>G | CA394869114 | MYH11 | c.1924G>C (p.Ala642Pro) c.1945G>C (p.Ala649Pro) c.*107G>C (n.*107G>C) n.2346G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.15750272C>T | CA7922465 | MYH11 | c.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 |
16 | g.15750273_15750290del | CA7922464 | MYH11 | c.1907_1924del (p.Glu636_Ser641del) c.1928_1945del (p.Glu643_Ser648del) c.*90_*107del (n.*90_*107del) n.2329_2346del | dbSNP ExAC gnomAD v2 |
16 | g.15750273G>A | CA7922466 | MYH11 | c.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 |
16 | g.15750273G>C | CA394869117 | MYH11 | c.1923C>G (p.Ser641Arg) c.1944C>G (p.Ser648Arg) c.*106C>G (n.*106C>G) n.2345C>G | |
16 | g.15750273G= | CA2209930448 | MYH11 | c.1923C= (p.Ser641=) c.1944C= (p.Ser648=) c.*106C= (n.*106C=) n.2345C= | |
16 | g.15750273G>T | CA394869116 | MYH11 | c.1923C>A (p.Ser641Arg) c.1944C>A (p.Ser648Arg) c.*106C>A (n.*106C>A) n.2345C>A | ClinVar dbSNP gnomAD v4 |