Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | |
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 |