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