| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.186276265T>A | CA358959087 | F11 | c.630T>A (p.Phe210Leu) c.468T>A (p.Phe156Leu) c.77T>A c.485+1990T>A (n.485+1990T>A) n.982T>A n.963T>A | |
| 4 | g.186276265T>C | CA442644415 | F11 | c.630T>C (p.Phe210=) c.468T>C (p.Phe156=) c.77T>C c.485+1990T>C (n.485+1990T>C) n.982T>C n.963T>C | |
| 4 | g.186276265T>G | CA358959088 | F11 | c.630T>G (p.Phe210Leu) c.468T>G (p.Phe156Leu) c.77T>G c.485+1990T>G (n.485+1990T>G) n.982T>G n.963T>G | |
| 4 | g.186276266G>A | CA112152797 | F11 | c.631G>A (p.Ala211Thr) c.469G>A (p.Ala157Thr) c.78G>A c.485+1991G>A (n.485+1991G>A) n.983G>A n.964G>A | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.186276266G>C | CA358959090 | F11 | c.631G>C (p.Ala211Pro) c.469G>C (p.Ala157Pro) c.78G>C c.485+1991G>C (n.485+1991G>C) n.983G>C n.964G>C | |
| 4 | g.186276266G= | CA1519934168 | F11 | c.631G= (p.Ala211=) c.469G= (p.Ala157=) c.78G= c.485+1991G= (n.485+1991G=) n.983G= n.964G= | |
| 4 | g.186276266G>T | CA358959089 | F11 | c.631G>T (p.Ala211Ser) c.469G>T (p.Ala157Ser) c.78G>T c.485+1991G>T (n.485+1991G>T) n.983G>T n.964G>T | |
| 4 | g.186276267C>A | CA358959093 | F11 | c.632C>A (p.Ala211Glu) c.470C>A (p.Ala157Glu) c.79C>A c.485+1992C>A (n.485+1992C>A) n.984C>A n.965C>A | |
| 4 | g.186276267C= | CA1519934169 | F11 | c.632C= (p.Ala211=) c.470C= (p.Ala157=) c.79C= c.485+1992C= (n.485+1992C=) n.984C= n.965C= | |
| 4 | g.186276267C>G | CA358959091 | F11 | c.632C>G (p.Ala211Gly) c.470C>G (p.Ala157Gly) c.79C>G c.485+1992C>G (n.485+1992C>G) n.984C>G n.965C>G | |
| 4 | g.186276267C>T | CA358959092 | F11 | c.632C>T (p.Ala211Val) c.470C>T (p.Ala157Val) c.79C>T c.485+1992C>T (n.485+1992C>T) n.984C>T n.965C>T | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.186276268A= | CA1519934170 | F11 | c.633A= (p.Ala211=) c.471A= (p.Ala157=) c.80A= c.485+1993A= (n.485+1993A=) n.985A= n.966A= | |
| 4 | g.186276268A>C | CA442644416 | F11 | c.633A>C (p.Ala211=) c.471A>C (p.Ala157=) c.80A>C c.485+1993A>C (n.485+1993A>C) n.985A>C n.966A>C | COSMIC COSMIC |
| 4 | g.186276268A>G | CA442644417 | F11 | c.633A>G (p.Ala211=) c.471A>G (p.Ala157=) c.80A>G c.485+1993A>G (n.485+1993A>G) n.985A>G n.966A>G | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.186276268A>T | CA442644418 | F11 | c.633A>T (p.Ala211=) c.471A>T (p.Ala157=) c.80A>T c.485+1993A>T (n.485+1993A>T) n.985A>T n.966A>T | |
| 4 | g.186276269G>A | CA358959094 | F11 | c.634G>A (p.Asp212Asn) c.472G>A (p.Asp158Asn) c.81G>A c.485+1994G>A (n.485+1994G>A) n.986G>A n.967G>A | ClinVar dbSNP |
| 4 | g.186276269G>C | CA358959095 | F11 | c.634G>C (p.Asp212His) c.472G>C (p.Asp158His) c.81G>C c.485+1994G>C (n.485+1994G>C) n.986G>C n.967G>C | |
| 4 | g.186276269G= | CA1519934171 | F11 | c.634G= (p.Asp212=) c.472G= (p.Asp158=) c.81G= c.485+1994G= (n.485+1994G=) n.986G= n.967G= | |
| 4 | g.186276269G>T | CA358959096 | F11 | c.634G>T (p.Asp212Tyr) c.472G>T (p.Asp158Tyr) c.81G>T c.485+1994G>T (n.485+1994G>T) n.986G>T n.967G>T | dbSNP gnomAD v4 |
| 4 | g.186276270A>C | CA358959097 | F11 | c.635A>C (p.Asp212Ala) c.473A>C (p.Asp158Ala) c.82A>C c.485+1995A>C (n.485+1995A>C) n.987A>C n.968A>C | |
| 4 | g.186276270A>G | CA358959098 | F11 | c.635A>G (p.Asp212Gly) c.473A>G (p.Asp158Gly) c.82A>G c.485+1995A>G (n.485+1995A>G) n.987A>G n.968A>G | |
| 4 | g.186276270A>T | CA358959099 | F11 | c.635A>T (p.Asp212Val) c.473A>T (p.Asp158Val) c.82A>T c.485+1995A>T (n.485+1995A>T) n.987A>T n.968A>T | |
| 4 | g.186276271C>A | CA358959100 | F11 | c.636C>A (p.Asp212Glu) c.474C>A (p.Asp158Glu) c.83C>A c.485+1996C>A (n.485+1996C>A) n.988C>A n.969C>A | |
| 4 | g.186276271C>G | CA358959101 | F11 | c.636C>G (p.Asp212Glu) c.474C>G (p.Asp158Glu) c.83C>G c.485+1996C>G (n.485+1996C>G) n.988C>G n.969C>G | |
| 4 | g.186276271C>T | CA442644419 | F11 | c.636C>T (p.Asp212=) c.474C>T (p.Asp158=) c.83C>T c.485+1996C>T (n.485+1996C>T) n.988C>T n.969C>T | |
| 4 | g.186276272A>C | CA358959102 | F11 | c.637A>C (p.Ser213Arg) c.475A>C (p.Ser159Arg) c.84A>C c.485+1997A>C (n.485+1997A>C) n.989A>C n.970A>C | |
| 4 | g.186276272A>G | CA358959103 | F11 | c.637A>G (p.Ser213Gly) c.475A>G (p.Ser159Gly) c.84A>G c.485+1997A>G (n.485+1997A>G) n.989A>G n.970A>G | |
| 4 | g.186276272A>T | CA358959104 | F11 | c.637A>T (p.Ser213Cys) c.475A>T (p.Ser159Cys) c.84A>T c.485+1997A>T (n.485+1997A>T) n.989A>T n.970A>T | |
| 4 | g.186276273G>A | CA358959106 | F11 | c.638G>A (p.Ser213Asn) c.476G>A (p.Ser159Asn) c.85G>A c.485+1998G>A (n.485+1998G>A) n.990G>A n.971G>A | |
| 4 | g.186276273G>C | CA358959107 | F11 | c.638G>C (p.Ser213Thr) c.476G>C (p.Ser159Thr) c.85G>C c.485+1998G>C (n.485+1998G>C) n.990G>C n.971G>C | |
| 4 | g.186276273G>T | CA358959105 | F11 | c.638G>T (p.Ser213Ile) c.476G>T (p.Ser159Ile) c.85G>T c.485+1998G>T (n.485+1998G>T) n.990G>T n.971G>T | |
| 4 | g.186276274C>A | CA358959108 | F11 | c.639C>A (p.Ser213Arg) c.477C>A (p.Ser159Arg) c.86C>A c.485+1999C>A (n.485+1999C>A) n.991C>A n.972C>A | gnomAD v4 |
| 4 | g.186276274C>G | CA358959109 | F11 | c.639C>G (p.Ser213Arg) c.477C>G (p.Ser159Arg) c.86C>G c.485+1999C>G (n.485+1999C>G) n.991C>G n.972C>G | |
| 4 | g.186276274C>T | CA442644420 | F11 | c.639C>T (p.Ser213=) c.477C>T (p.Ser159=) c.86C>T c.485+1999C>T (n.485+1999C>T) n.991C>T n.972C>T | |
| 4 | g.186276275A>C | CA358959110 | F11 | c.640A>C (p.Asn214His) c.478A>C (p.Asn160His) c.87A>C c.485+2000A>C (n.485+2000A>C) n.992A>C n.973A>C | |
| 4 | g.186276275A>G | CA358959111 | F11 | c.640A>G (p.Asn214Asp) c.478A>G (p.Asn160Asp) c.87A>G c.485+2000A>G (n.485+2000A>G) n.992A>G n.973A>G | |
| 4 | g.186276275A>T | CA358959112 | F11 | c.640A>T (p.Asn214Tyr) c.478A>T (p.Asn160Tyr) c.87A>T c.485+2000A>T (n.485+2000A>T) n.992A>T n.973A>T | |
| 4 | g.186276275_186276281delinsAACATCG | CA1519934172 | F11 | c.640_646delinsAACATCG (p.Asn214=) c.478_484delinsAACATCG (p.Asn160=) c.87_93delinsAACATCG c.485+2000_485+2006delinsAACATCG (n.485+2000_485+2006delinsAACATCG) n.992_998delinsAACATCG n.973_979delinsAACATCG | |
| 4 | g.186276276_186276282del | CA913103786 | F11 | c.641_647del (p.Asn214ThrfsTer?) c.479_485del (p.Asn160ThrfsTer?) c.88_94del c.485+2001_485+2007del (n.485+2001_485+2007del) n.993_999del n.974_980del | |
| 4 | g.186276276A= | CA1519934173 | F11 | c.641A= (p.Asn214=) c.479A= (p.Asn160=) c.88A= c.485+2001A= (n.485+2001A=) n.993A= n.974A= | |
| 4 | g.186276276A>C | CA358959115 | F11 | c.641A>C (p.Asn214Thr) c.479A>C (p.Asn160Thr) c.88A>C c.485+2001A>C (n.485+2001A>C) n.993A>C n.974A>C | |
| 4 | g.186276276A>G | CA358959113 | F11 | c.641A>G (p.Asn214Ser) c.479A>G (p.Asn160Ser) c.88A>G c.485+2001A>G (n.485+2001A>G) n.993A>G n.974A>G | dbSNP gnomAD v4 |
| 4 | g.186276276A>T | CA358959114 | F11 | c.641A>T (p.Asn214Ile) c.479A>T (p.Asn160Ile) c.88A>T c.485+2001A>T (n.485+2001A>T) n.993A>T n.974A>T | |
| 4 | g.186276279_186276284del | CA557396098 | F11 | c.644_649del (p.Ile215_Asp216del) c.482_487del (p.Ile161_Asp162del) c.91_96del c.485+2004_485+2009del (n.485+2004_485+2009del) n.996_1001del n.977_982del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.186276277C>A | CA358959116 | F11 | c.642C>A (p.Asn214Lys) c.480C>A (p.Asn160Lys) c.89C>A c.485+2002C>A (n.485+2002C>A) n.994C>A n.975C>A | |
| 4 | g.186276277C= | CA1519934174 | F11 | c.642C= (p.Asn214=) c.480C= (p.Asn160=) c.89C= c.485+2002C= (n.485+2002C=) n.994C= n.975C= | |
| 4 | g.186276277C>G | CA358959118 | F11 | c.642C>G (p.Asn214Lys) c.480C>G (p.Asn160Lys) c.89C>G c.485+2002C>G (n.485+2002C>G) n.994C>G n.975C>G | |
| 4 | g.186276277C>T | CA3163737 | F11 | c.642C>T (p.Asn214=) c.480C>T (p.Asn160=) c.89C>T c.485+2002C>T (n.485+2002C>T) n.994C>T n.975C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186276278A= | CA1519934175 | F11 | c.643A= (p.Ile215=) c.481A= (p.Ile161=) c.90A= c.485+2003A= (n.485+2003A=) n.995A= n.976A= | |
| 4 | g.186276278A>C | CA358959119 | F11 | c.643A>C (p.Ile215Leu) c.481A>C (p.Ile161Leu) c.90A>C c.485+2003A>C (n.485+2003A>C) n.995A>C n.976A>C |