| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.115975176A>C | CA386878104 | MED13L | c.5726T>G (p.Leu1909Arg) n.716T>G n.4094T>G n.5490T>G n.3911T>G n.3737T>G c.3910T>G c.2215T>G c.5762T>G (p.Leu1921Arg) c.339T>G c.5759T>G (p.Leu1920Arg) c.5732T>G (p.Leu1911Arg) c.5723T>G (p.Leu1908Arg) | |
| 12 | g.115975176A>G | CA386878105 | MED13L | c.5726T>C (p.Leu1909Pro) n.716T>C n.4094T>C n.5490T>C n.3911T>C n.3737T>C c.3910T>C c.2215T>C c.5762T>C (p.Leu1921Pro) c.339T>C c.5759T>C (p.Leu1920Pro) c.5732T>C (p.Leu1911Pro) c.5723T>C (p.Leu1908Pro) | |
| 12 | g.115975176A>T | CA386878106 | MED13L | c.5726T>A (p.Leu1909His) n.716T>A n.4094T>A n.5490T>A n.3911T>A n.3737T>A c.3910T>A c.2215T>A c.5762T>A (p.Leu1921His) c.339T>A c.5759T>A (p.Leu1920His) c.5732T>A (p.Leu1911His) c.5723T>A (p.Leu1908His) | |
| 12 | g.115975177G>A | CA386878109 | MED13L | c.5725C>T (p.Leu1909Phe) n.715C>T n.4093C>T n.5489C>T n.3910C>T n.3736C>T c.3909C>T c.2214C>T c.5761C>T (p.Leu1921Phe) c.338C>T c.5758C>T (p.Leu1920Phe) c.5731C>T (p.Leu1911Phe) c.5722C>T (p.Leu1908Phe) | |
| 12 | g.115975177G>C | CA386878108 | MED13L | c.5725C>G (p.Leu1909Val) n.715C>G n.4093C>G n.5489C>G n.3910C>G n.3736C>G c.3909C>G c.2214C>G c.5761C>G (p.Leu1921Val) c.338C>G c.5758C>G (p.Leu1920Val) c.5731C>G (p.Leu1911Val) c.5722C>G (p.Leu1908Val) | |
| 12 | g.115975177G>T | CA386878107 | MED13L | c.5725C>A (p.Leu1909Ile) n.715C>A n.4093C>A n.5489C>A n.3910C>A n.3736C>A c.3909C>A c.2214C>A c.5761C>A (p.Leu1921Ile) c.338C>A c.5758C>A (p.Leu1920Ile) c.5731C>A (p.Leu1911Ile) c.5722C>A (p.Leu1908Ile) | |
| 12 | g.115975178C>A | CA386878110 | MED13L | c.5724G>T (p.Glu1908Asp) n.714G>T n.4092G>T n.5488G>T n.3909G>T n.3735G>T c.3908G>T c.2213G>T c.5760G>T (p.Glu1920Asp) c.337G>T c.5757G>T (p.Glu1919Asp) c.5730G>T (p.Glu1910Asp) c.5721G>T (p.Glu1907Asp) | |
| 12 | g.115975178C>G | CA386878111 | MED13L | c.5724G>C (p.Glu1908Asp) n.714G>C n.4092G>C n.5488G>C n.3909G>C n.3735G>C c.3908G>C c.2213G>C c.5760G>C (p.Glu1920Asp) c.337G>C c.5757G>C (p.Glu1919Asp) c.5730G>C (p.Glu1910Asp) c.5721G>C (p.Glu1907Asp) | |
| 12 | g.115975178C>T | CA481944573 | MED13L | c.5724G>A (p.Glu1908=) n.714G>A n.4092G>A n.5488G>A n.3909G>A n.3735G>A c.3908G>A c.2213G>A c.5760G>A (p.Glu1920=) c.337G>A c.5757G>A (p.Glu1919=) c.5730G>A (p.Glu1910=) c.5721G>A (p.Glu1907=) | |
| 12 | g.115975179T>A | CA386878112 | MED13L | c.5723A>T (p.Glu1908Val) n.713A>T n.4091A>T n.5487A>T n.3908A>T n.3734A>T c.3907A>T c.2212A>T c.5759A>T (p.Glu1920Val) c.336A>T c.5756A>T (p.Glu1919Val) c.5729A>T (p.Glu1910Val) c.5720A>T (p.Glu1907Val) | |
| 12 | g.115975179T>C | CA386878113 | MED13L | c.5723A>G (p.Glu1908Gly) n.713A>G n.4091A>G n.5487A>G n.3908A>G n.3734A>G c.3907A>G c.2212A>G c.5759A>G (p.Glu1920Gly) c.336A>G c.5756A>G (p.Glu1919Gly) c.5729A>G (p.Glu1910Gly) c.5720A>G (p.Glu1907Gly) | |
| 12 | g.115975179T>G | CA386878114 | MED13L | c.5723A>C (p.Glu1908Ala) n.713A>C n.4091A>C n.5487A>C n.3908A>C n.3734A>C c.3907A>C c.2212A>C c.5759A>C (p.Glu1920Ala) c.336A>C c.5756A>C (p.Glu1919Ala) c.5729A>C (p.Glu1910Ala) c.5720A>C (p.Glu1907Ala) | |
| 12 | g.115975180C>A | CA386878115 | MED13L | c.5722G>T (p.Glu1908Ter) n.712G>T n.4090G>T n.5486G>T n.3907G>T n.3733G>T c.3906G>T c.2211G>T c.5758G>T (p.Glu1920Ter) c.335G>T c.5755G>T (p.Glu1919Ter) c.5728G>T (p.Glu1910Ter) c.5719G>T (p.Glu1907Ter) | |
| 12 | g.115975180C>G | CA386878116 | MED13L | c.5722G>C (p.Glu1908Gln) n.712G>C n.4090G>C n.5486G>C n.3907G>C n.3733G>C c.3906G>C c.2211G>C c.5758G>C (p.Glu1920Gln) c.335G>C c.5755G>C (p.Glu1919Gln) c.5728G>C (p.Glu1910Gln) c.5719G>C (p.Glu1907Gln) | ClinVar |
| 12 | g.115975180C>T | CA386878117 | MED13L | c.5722G>A (p.Glu1908Lys) n.712G>A n.4090G>A n.5486G>A n.3907G>A n.3733G>A c.3906G>A c.2211G>A c.5758G>A (p.Glu1920Lys) c.335G>A c.5755G>A (p.Glu1919Lys) c.5728G>A (p.Glu1910Lys) c.5719G>A (p.Glu1907Lys) | |
| 12 | g.115975181C>A | CA481944581 | MED13L | c.5721G>T (p.Gly1907=) n.711G>T n.4089G>T n.5485G>T n.3906G>T n.3732G>T c.3905G>T c.2210G>T c.5757G>T (p.Gly1919=) c.334G>T c.5754G>T (p.Gly1918=) c.5727G>T (p.Gly1909=) c.5718G>T (p.Gly1906=) | |
| 12 | g.115975181C>G | CA481944584 | MED13L | c.5721G>C (p.Gly1907=) n.711G>C n.4089G>C n.5485G>C n.3906G>C n.3732G>C c.3905G>C c.2210G>C c.5757G>C (p.Gly1919=) c.334G>C c.5754G>C (p.Gly1918=) c.5727G>C (p.Gly1909=) c.5718G>C (p.Gly1906=) | |
| 12 | g.115975181C>T | CA481944586 | MED13L | c.5721G>A (p.Gly1907=) n.711G>A n.4089G>A n.5485G>A n.3906G>A n.3732G>A c.3905G>A c.2210G>A c.5757G>A (p.Gly1919=) c.334G>A c.5754G>A (p.Gly1918=) c.5727G>A (p.Gly1909=) c.5718G>A (p.Gly1906=) | |
| 12 | g.115975182C>A | CA386878118 | MED13L | c.5720G>T (p.Gly1907Val) n.710G>T n.4088G>T n.5484G>T n.3905G>T n.3731G>T c.3904G>T c.2209G>T c.5756G>T (p.Gly1919Val) c.333G>T c.5753G>T (p.Gly1918Val) c.5726G>T (p.Gly1909Val) c.5717G>T (p.Gly1906Val) | COSMIC |
| 12 | g.115975182C>G | CA386878119 | MED13L | c.5720G>C (p.Gly1907Ala) n.710G>C n.4088G>C n.5484G>C n.3905G>C n.3731G>C c.3904G>C c.2209G>C c.5756G>C (p.Gly1919Ala) c.333G>C c.5753G>C (p.Gly1918Ala) c.5726G>C (p.Gly1909Ala) c.5717G>C (p.Gly1906Ala) | |
| 12 | g.115975182C>T | CA386878120 | MED13L | c.5720G>A (p.Gly1907Glu) n.710G>A n.4088G>A n.5484G>A n.3905G>A n.3731G>A c.3904G>A c.2209G>A c.5756G>A (p.Gly1919Glu) c.333G>A c.5753G>A (p.Gly1918Glu) c.5726G>A (p.Gly1909Glu) c.5717G>A (p.Gly1906Glu) | gnomAD v4 |
| 12 | g.115975183C>A | CA386878121 | MED13L | c.5719G>T (p.Gly1907Trp) n.709G>T n.4087G>T n.5483G>T n.3904G>T n.3730G>T c.3903G>T c.2208G>T c.5755G>T (p.Gly1919Trp) c.332G>T c.5752G>T (p.Gly1918Trp) c.5725G>T (p.Gly1909Trp) c.5716G>T (p.Gly1906Trp) | ClinVar |
| 12 | g.115975183C>G | CA386878122 | MED13L | c.5719G>C (p.Gly1907Arg) n.709G>C n.4087G>C n.5483G>C n.3904G>C n.3730G>C c.3903G>C c.2208G>C c.5755G>C (p.Gly1919Arg) c.332G>C c.5752G>C (p.Gly1918Arg) c.5725G>C (p.Gly1909Arg) c.5716G>C (p.Gly1906Arg) | |
| 12 | g.115975183C>T | CA386878123 | MED13L | c.5719G>A (p.Gly1907Arg) n.709G>A n.4087G>A n.5483G>A n.3904G>A n.3730G>A c.3903G>A c.2208G>A c.5755G>A (p.Gly1919Arg) c.332G>A c.5752G>A (p.Gly1918Arg) c.5725G>A (p.Gly1909Arg) c.5716G>A (p.Gly1906Arg) | |
| 12 | g.115975184A>C | CA386878125 | MED13L | c.5718T>G (p.His1906Gln) n.708T>G n.4086T>G n.5482T>G n.3903T>G n.3729T>G c.3902T>G c.2207T>G c.5754T>G (p.His1918Gln) c.331T>G c.5751T>G (p.His1917Gln) c.5724T>G (p.His1908Gln) c.5715T>G (p.His1905Gln) | |
| 12 | g.115975184A>G | CA481944599 | MED13L | c.5718T>C (p.His1906=) n.708T>C n.4086T>C n.5482T>C n.3903T>C n.3729T>C c.3902T>C c.2207T>C c.5754T>C (p.His1918=) c.331T>C c.5751T>C (p.His1917=) c.5724T>C (p.His1908=) c.5715T>C (p.His1905=) | |
| 12 | g.115975184A>T | CA386878124 | MED13L | c.5718T>A (p.His1906Gln) n.708T>A n.4086T>A n.5482T>A n.3903T>A n.3729T>A c.3902T>A c.2207T>A c.5754T>A (p.His1918Gln) c.331T>A c.5751T>A (p.His1917Gln) c.5724T>A (p.His1908Gln) c.5715T>A (p.His1905Gln) | |
| 12 | g.115975185T>A | CA386878126 | MED13L | c.5717A>T (p.His1906Leu) n.707A>T n.4085A>T n.5481A>T n.3902A>T n.3728A>T c.3901A>T c.2206A>T c.5753A>T (p.His1918Leu) c.330A>T c.5750A>T (p.His1917Leu) c.5723A>T (p.His1908Leu) c.5714A>T (p.His1905Leu) | |
| 12 | g.115975185T>C | CA386878127 | MED13L | c.5717A>G (p.His1906Arg) n.707A>G n.4085A>G n.5481A>G n.3902A>G n.3728A>G c.3901A>G c.2206A>G c.5753A>G (p.His1918Arg) c.330A>G c.5750A>G (p.His1917Arg) c.5723A>G (p.His1908Arg) c.5714A>G (p.His1905Arg) | |
| 12 | g.115975185T>G | CA386878128 | MED13L | c.5717A>C (p.His1906Pro) n.707A>C n.4085A>C n.5481A>C n.3902A>C n.3728A>C c.3901A>C c.2206A>C c.5753A>C (p.His1918Pro) c.330A>C c.5750A>C (p.His1917Pro) c.5723A>C (p.His1908Pro) c.5714A>C (p.His1905Pro) | |
| 12 | g.115975186G>A | CA386878129 | MED13L | c.5716C>T (p.His1906Tyr) n.706C>T n.4084C>T n.5480C>T n.3901C>T n.3727C>T c.3900C>T c.2205C>T c.5752C>T (p.His1918Tyr) c.329C>T c.5749C>T (p.His1917Tyr) c.5722C>T (p.His1908Tyr) c.5713C>T (p.His1905Tyr) | ClinVar dbSNP |
| 12 | g.115975186G>C | CA386878130 | MED13L | c.5716C>G (p.His1906Asp) n.706C>G n.4084C>G n.5480C>G n.3901C>G n.3727C>G c.3900C>G c.2205C>G c.5752C>G (p.His1918Asp) c.329C>G c.5749C>G (p.His1917Asp) c.5722C>G (p.His1908Asp) c.5713C>G (p.His1905Asp) | |
| 12 | g.115975186G= | CA2065412891 | MED13L | c.5716C= (p.His1906=) n.706C= n.4084C= n.5480C= n.3901C= n.3727C= c.3900C= c.2205C= c.5752C= (p.His1918=) c.329C= c.5749C= (p.His1917=) c.5722C= (p.His1908=) c.5713C= (p.His1905=) | |
| 12 | g.115975186G>T | CA386878131 | MED13L | c.5716C>A (p.His1906Asn) n.706C>A n.4084C>A n.5480C>A n.3901C>A n.3727C>A c.3900C>A c.2205C>A c.5752C>A (p.His1918Asn) c.329C>A c.5749C>A (p.His1917Asn) c.5722C>A (p.His1908Asn) c.5713C>A (p.His1905Asn) | |
| 12 | g.115975187G>A | CA481944611 | MED13L | c.5715C>T (p.Gly1905=) n.705C>T n.4083C>T n.5479C>T n.3900C>T n.3726C>T c.3899C>T c.2204C>T c.5751C>T (p.Gly1917=) c.328C>T c.5748C>T (p.Gly1916=) c.5721C>T (p.Gly1907=) c.5712C>T (p.Gly1904=) | |
| 12 | g.115975187G>C | CA481944612 | MED13L | c.5715C>G (p.Gly1905=) n.705C>G n.4083C>G n.5479C>G n.3900C>G n.3726C>G c.3899C>G c.2204C>G c.5751C>G (p.Gly1917=) c.328C>G c.5748C>G (p.Gly1916=) c.5721C>G (p.Gly1907=) c.5712C>G (p.Gly1904=) | |
| 12 | g.115975187G>T | CA481944615 | MED13L | c.5715C>A (p.Gly1905=) n.705C>A n.4083C>A n.5479C>A n.3900C>A n.3726C>A c.3899C>A c.2204C>A c.5751C>A (p.Gly1917=) c.328C>A c.5748C>A (p.Gly1916=) c.5721C>A (p.Gly1907=) c.5712C>A (p.Gly1904=) | |
| 12 | g.115975188C>A | CA386878132 | MED13L | c.5714G>T (p.Gly1905Val) n.704G>T n.4082G>T n.5478G>T n.3899G>T n.3725G>T c.3898G>T c.2203G>T c.5750G>T (p.Gly1917Val) c.327G>T c.5747G>T (p.Gly1916Val) c.5720G>T (p.Gly1907Val) c.5711G>T (p.Gly1904Val) | |
| 12 | g.115975188C>G | CA386878133 | MED13L | c.5714G>C (p.Gly1905Ala) n.704G>C n.4082G>C n.5478G>C n.3899G>C n.3725G>C c.3898G>C c.2203G>C c.5750G>C (p.Gly1917Ala) c.327G>C c.5747G>C (p.Gly1916Ala) c.5720G>C (p.Gly1907Ala) c.5711G>C (p.Gly1904Ala) | |
| 12 | g.115975188C>T | CA386878134 | MED13L | c.5714G>A (p.Gly1905Asp) n.704G>A n.4082G>A n.5478G>A n.3899G>A n.3725G>A c.3898G>A c.2203G>A c.5750G>A (p.Gly1917Asp) c.327G>A c.5747G>A (p.Gly1916Asp) c.5720G>A (p.Gly1907Asp) c.5711G>A (p.Gly1904Asp) | |
| 12 | g.115975189C>A | CA386878135 | MED13L | c.5713G>T (p.Gly1905Cys) n.703G>T n.4081G>T n.5477G>T n.3898G>T n.3724G>T c.3897G>T c.2202G>T c.5749G>T (p.Gly1917Cys) c.326G>T c.5746G>T (p.Gly1916Cys) c.5719G>T (p.Gly1907Cys) c.5710G>T (p.Gly1904Cys) | |
| 12 | g.115975189C>G | CA386878136 | MED13L | c.5713G>C (p.Gly1905Arg) n.703G>C n.4081G>C n.5477G>C n.3898G>C n.3724G>C c.3897G>C c.2202G>C c.5749G>C (p.Gly1917Arg) c.326G>C c.5746G>C (p.Gly1916Arg) c.5719G>C (p.Gly1907Arg) c.5710G>C (p.Gly1904Arg) | |
| 12 | g.115975189C>T | CA386878137 | MED13L | c.5713G>A (p.Gly1905Ser) n.703G>A n.4081G>A n.5477G>A n.3898G>A n.3724G>A c.3897G>A c.2202G>A c.5749G>A (p.Gly1917Ser) c.326G>A c.5746G>A (p.Gly1916Ser) c.5719G>A (p.Gly1907Ser) c.5710G>A (p.Gly1904Ser) | |
| 12 | g.115975190A>C | CA481944625 | MED13L | c.5712T>G (p.Leu1904=) n.702T>G n.4080T>G n.5476T>G n.3897T>G n.3723T>G c.3896T>G c.2201T>G c.5748T>G (p.Leu1916=) c.325T>G c.5745T>G (p.Leu1915=) c.5718T>G (p.Leu1906=) c.5709T>G (p.Leu1903=) | |
| 12 | g.115975190A>G | CA481944629 | MED13L | c.5712T>C (p.Leu1904=) n.702T>C n.4080T>C n.5476T>C n.3897T>C n.3723T>C c.3896T>C c.2201T>C c.5748T>C (p.Leu1916=) c.325T>C c.5745T>C (p.Leu1915=) c.5718T>C (p.Leu1906=) c.5709T>C (p.Leu1903=) | |
| 12 | g.115975190A>T | CA481944627 | MED13L | c.5712T>A (p.Leu1904=) n.702T>A n.4080T>A n.5476T>A n.3897T>A n.3723T>A c.3896T>A c.2201T>A c.5748T>A (p.Leu1916=) c.325T>A c.5745T>A (p.Leu1915=) c.5718T>A (p.Leu1906=) c.5709T>A (p.Leu1903=) | gnomAD v4 |
| 12 | g.115975191A>C | CA386878139 | MED13L | c.5711T>G (p.Leu1904Arg) n.701T>G n.4079T>G n.5475T>G n.3896T>G n.3722T>G c.3895T>G c.2200T>G c.5747T>G (p.Leu1916Arg) c.324T>G c.5744T>G (p.Leu1915Arg) c.5717T>G (p.Leu1906Arg) c.5708T>G (p.Leu1903Arg) | |
| 12 | g.115975191A>G | CA386878140 | MED13L | c.5711T>C (p.Leu1904Pro) n.701T>C n.4079T>C n.5475T>C n.3896T>C n.3722T>C c.3895T>C c.2200T>C c.5747T>C (p.Leu1916Pro) c.324T>C c.5744T>C (p.Leu1915Pro) c.5717T>C (p.Leu1906Pro) c.5708T>C (p.Leu1903Pro) | |
| 12 | g.115975191A>T | CA386878138 | MED13L | c.5711T>A (p.Leu1904His) n.701T>A n.4079T>A n.5475T>A n.3896T>A n.3722T>A c.3895T>A c.2200T>A c.5747T>A (p.Leu1916His) c.324T>A c.5744T>A (p.Leu1915His) c.5717T>A (p.Leu1906His) c.5708T>A (p.Leu1903His) | |
| 12 | g.115975192G>A | CA386878141 | MED13L | c.5710C>T (p.Leu1904Phe) n.700C>T n.4078C>T n.5474C>T n.3895C>T n.3721C>T c.3894C>T c.2199C>T c.5746C>T (p.Leu1916Phe) c.323C>T c.5743C>T (p.Leu1915Phe) c.5716C>T (p.Leu1906Phe) c.5707C>T (p.Leu1903Phe) | |
| 12 | g.115975192G>C | CA386878142 | MED13L | c.5710C>G (p.Leu1904Val) n.700C>G n.4078C>G n.5474C>G n.3895C>G n.3721C>G c.3894C>G c.2199C>G c.5746C>G (p.Leu1916Val) c.323C>G c.5743C>G (p.Leu1915Val) c.5716C>G (p.Leu1906Val) c.5707C>G (p.Leu1903Val) | ClinVar |
| 12 | g.115975192G>T | CA386878143 | MED13L | c.5710C>A (p.Leu1904Ile) n.700C>A n.4078C>A n.5474C>A n.3895C>A n.3721C>A c.3894C>A c.2199C>A c.5746C>A (p.Leu1916Ile) c.323C>A c.5743C>A (p.Leu1915Ile) c.5716C>A (p.Leu1906Ile) c.5707C>A (p.Leu1903Ile) | |
| 12 | g.115975193A>C | CA481944639 | MED13L | c.5709T>G (p.Arg1903=) n.699T>G n.4077T>G n.5473T>G n.3894T>G n.3720T>G c.3893T>G c.2198T>G c.5745T>G (p.Arg1915=) c.322T>G c.5742T>G (p.Arg1914=) c.5715T>G (p.Arg1905=) c.5706T>G (p.Arg1902=) | |
| 12 | g.115975193A>G | CA481944641 | MED13L | c.5709T>C (p.Arg1903=) n.699T>C n.4077T>C n.5473T>C n.3894T>C n.3720T>C c.3893T>C c.2198T>C c.5745T>C (p.Arg1915=) c.322T>C c.5742T>C (p.Arg1914=) c.5715T>C (p.Arg1905=) c.5706T>C (p.Arg1902=) | |
| 12 | g.115975193A>T | CA481944643 | MED13L | c.5709T>A (p.Arg1903=) n.699T>A n.4077T>A n.5473T>A n.3894T>A n.3720T>A c.3893T>A c.2198T>A c.5745T>A (p.Arg1915=) c.322T>A c.5742T>A (p.Arg1914=) c.5715T>A (p.Arg1905=) c.5706T>A (p.Arg1902=) | |
| 12 | g.115975194C>A | CA386878144 | MED13L | c.5708G>T (p.Arg1903Leu) n.698G>T n.4076G>T n.5472G>T n.3893G>T n.3719G>T c.3892G>T c.2197G>T c.5744G>T (p.Arg1915Leu) c.321G>T c.5741G>T (p.Arg1914Leu) c.5714G>T (p.Arg1905Leu) c.5705G>T (p.Arg1902Leu) | |
| 12 | g.115975194C= | CA2065412892 | MED13L | c.5708G= (p.Arg1903=) n.698G= n.4076G= n.5472G= n.3893G= n.3719G= c.3892G= c.2197G= c.5744G= (p.Arg1915=) c.321G= c.5741G= (p.Arg1914=) c.5714G= (p.Arg1905=) c.5705G= (p.Arg1902=) | |
| 12 | g.115975194C>G | CA386878145 | MED13L | c.5708G>C (p.Arg1903Pro) n.698G>C n.4076G>C n.5472G>C n.3893G>C n.3719G>C c.3892G>C c.2197G>C c.5744G>C (p.Arg1915Pro) c.321G>C c.5741G>C (p.Arg1914Pro) c.5714G>C (p.Arg1905Pro) c.5705G>C (p.Arg1902Pro) | |
| 12 | g.115975194C>T | CA244136154 | MED13L | c.5708G>A (p.Arg1903His) n.698G>A n.4076G>A n.5472G>A n.3893G>A n.3719G>A c.3892G>A c.2197G>A c.5744G>A (p.Arg1915His) c.321G>A c.5741G>A (p.Arg1914His) c.5714G>A (p.Arg1905His) c.5705G>A (p.Arg1902His) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.115975195G>A | CA386878146 | MED13L | c.5707C>T (p.Arg1903Cys) n.697C>T n.4075C>T n.5471C>T n.3892C>T n.3718C>T c.3891C>T c.2196C>T c.5743C>T (p.Arg1915Cys) c.320C>T c.5740C>T (p.Arg1914Cys) c.5713C>T (p.Arg1905Cys) c.5704C>T (p.Arg1902Cys) | gnomAD v4 |
| 12 | g.115975195G>C | CA386878147 | MED13L | c.5707C>G (p.Arg1903Gly) n.697C>G n.4075C>G n.5471C>G n.3892C>G n.3718C>G c.3891C>G c.2196C>G c.5743C>G (p.Arg1915Gly) c.320C>G c.5740C>G (p.Arg1914Gly) c.5713C>G (p.Arg1905Gly) c.5704C>G (p.Arg1902Gly) | |
| 12 | g.115975195G= | CA2065412893 | MED13L | c.5707C= (p.Arg1903=) n.697C= n.4075C= n.5471C= n.3892C= n.3718C= c.3891C= c.2196C= c.5743C= (p.Arg1915=) c.320C= c.5740C= (p.Arg1914=) c.5713C= (p.Arg1905=) c.5704C= (p.Arg1902=) | |
| 12 | g.115975195G>T | CA386878148 | MED13L | c.5707C>A (p.Arg1903Ser) n.697C>A n.4075C>A n.5471C>A n.3892C>A n.3718C>A c.3891C>A c.2196C>A c.5743C>A (p.Arg1915Ser) c.320C>A c.5740C>A (p.Arg1914Ser) c.5713C>A (p.Arg1905Ser) c.5704C>A (p.Arg1902Ser) | dbSNP |
| 12 | g.115975196C>A | CA481944657 | MED13L | c.5706G>T (p.Gly1902=) n.696G>T n.4074G>T n.5470G>T n.3891G>T n.3717G>T c.3890G>T c.2195G>T c.5742G>T (p.Gly1914=) c.319G>T c.5739G>T (p.Gly1913=) c.5712G>T (p.Gly1904=) c.5703G>T (p.Gly1901=) | |
| 12 | g.115975196C>G | CA481944658 | MED13L | c.5706G>C (p.Gly1902=) n.696G>C n.4074G>C n.5470G>C n.3891G>C n.3717G>C c.3890G>C c.2195G>C c.5742G>C (p.Gly1914=) c.319G>C c.5739G>C (p.Gly1913=) c.5712G>C (p.Gly1904=) c.5703G>C (p.Gly1901=) | |
| 12 | g.115975196C>T | CA481944660 | MED13L | c.5706G>A (p.Gly1902=) n.696G>A n.4074G>A n.5470G>A n.3891G>A n.3717G>A c.3890G>A c.2195G>A c.5742G>A (p.Gly1914=) c.319G>A c.5739G>A (p.Gly1913=) c.5712G>A (p.Gly1904=) c.5703G>A (p.Gly1901=) | |
| 12 | g.115975197C>A | CA386878149 | MED13L | c.5705G>T (p.Gly1902Val) n.695G>T n.4073G>T n.5469G>T n.3890G>T n.3716G>T c.3889G>T c.2194G>T c.5741G>T (p.Gly1914Val) c.318G>T c.5738G>T (p.Gly1913Val) c.5711G>T (p.Gly1904Val) c.5702G>T (p.Gly1901Val) | |
| 12 | g.115975197C>G | CA386878150 | MED13L | c.5705G>C (p.Gly1902Ala) n.695G>C n.4073G>C n.5469G>C n.3890G>C n.3716G>C c.3889G>C c.2194G>C c.5741G>C (p.Gly1914Ala) c.318G>C c.5738G>C (p.Gly1913Ala) c.5711G>C (p.Gly1904Ala) c.5702G>C (p.Gly1901Ala) | |
| 12 | g.115975197C>T | CA386878151 | MED13L | c.5705G>A (p.Gly1902Glu) n.695G>A n.4073G>A n.5469G>A n.3890G>A n.3716G>A c.3889G>A c.2194G>A c.5741G>A (p.Gly1914Glu) c.318G>A c.5738G>A (p.Gly1913Glu) c.5711G>A (p.Gly1904Glu) c.5702G>A (p.Gly1901Glu) | |
| 12 | g.115975198C>A | CA386878153 | MED13L | c.5704G>T (p.Gly1902Trp) n.694G>T n.4072G>T n.5468G>T n.3889G>T n.3715G>T c.3888G>T c.2193G>T c.5740G>T (p.Gly1914Trp) c.317G>T c.5737G>T (p.Gly1913Trp) c.5710G>T (p.Gly1904Trp) c.5701G>T (p.Gly1901Trp) | |
| 12 | g.115975198C>G | CA386878154 | MED13L | c.5704G>C (p.Gly1902Arg) n.694G>C n.4072G>C n.5468G>C n.3889G>C n.3715G>C c.3888G>C c.2193G>C c.5740G>C (p.Gly1914Arg) c.317G>C c.5737G>C (p.Gly1913Arg) c.5710G>C (p.Gly1904Arg) c.5701G>C (p.Gly1901Arg) | |
| 12 | g.115975198C>T | CA386878152 | MED13L | c.5704G>A (p.Gly1902Arg) n.694G>A n.4072G>A n.5468G>A n.3889G>A n.3715G>A c.3888G>A c.2193G>A c.5740G>A (p.Gly1914Arg) c.317G>A c.5737G>A (p.Gly1913Arg) c.5710G>A (p.Gly1904Arg) c.5701G>A (p.Gly1901Arg) | |
| 12 | g.115975199A>C | CA481944672 | MED13L | c.5703T>G (p.Leu1901=) n.693T>G n.4071T>G n.5467T>G n.3888T>G n.3714T>G c.3887T>G c.2192T>G c.5739T>G (p.Leu1913=) c.316T>G c.5736T>G (p.Leu1912=) c.5709T>G (p.Leu1903=) c.5700T>G (p.Leu1900=) | |
| 12 | g.115975199A>G | CA481944673 | MED13L | c.5703T>C (p.Leu1901=) n.693T>C n.4071T>C n.5467T>C n.3888T>C n.3714T>C c.3887T>C c.2192T>C c.5739T>C (p.Leu1913=) c.316T>C c.5736T>C (p.Leu1912=) c.5709T>C (p.Leu1903=) c.5700T>C (p.Leu1900=) | |
| 12 | g.115975199A>T | CA481944675 | MED13L | c.5703T>A (p.Leu1901=) n.693T>A n.4071T>A n.5467T>A n.3888T>A n.3714T>A c.3887T>A c.2192T>A c.5739T>A (p.Leu1913=) c.316T>A c.5736T>A (p.Leu1912=) c.5709T>A (p.Leu1903=) c.5700T>A (p.Leu1900=) | |
| 12 | g.115975200A>C | CA386878155 | MED13L | c.5702T>G (p.Leu1901Arg) n.692T>G n.4070T>G n.5466T>G n.3887T>G n.3713T>G c.3886T>G c.2191T>G c.5738T>G (p.Leu1913Arg) c.315T>G c.5735T>G (p.Leu1912Arg) c.5708T>G (p.Leu1903Arg) c.5699T>G (p.Leu1900Arg) | |
| 12 | g.115975200A>G | CA386878156 | MED13L | c.5702T>C (p.Leu1901Pro) n.692T>C n.4070T>C n.5466T>C n.3887T>C n.3713T>C c.3886T>C c.2191T>C c.5738T>C (p.Leu1913Pro) c.315T>C c.5735T>C (p.Leu1912Pro) c.5708T>C (p.Leu1903Pro) c.5699T>C (p.Leu1900Pro) | |
| 12 | g.115975200A>T | CA386878157 | MED13L | c.5702T>A (p.Leu1901His) n.692T>A n.4070T>A n.5466T>A n.3887T>A n.3713T>A c.3886T>A c.2191T>A c.5738T>A (p.Leu1913His) c.315T>A c.5735T>A (p.Leu1912His) c.5708T>A (p.Leu1903His) c.5699T>A (p.Leu1900His) | |
| 12 | g.115975201G>A | CA386878158 | MED13L | c.5701C>T (p.Leu1901Phe) n.691C>T n.4069C>T n.5465C>T n.3886C>T n.3712C>T c.3885C>T c.2190C>T c.5737C>T (p.Leu1913Phe) c.314C>T c.5734C>T (p.Leu1912Phe) c.5707C>T (p.Leu1903Phe) c.5698C>T (p.Leu1900Phe) | |
| 12 | g.115975201G>C | CA386878160 | MED13L | c.5701C>G (p.Leu1901Val) n.691C>G n.4069C>G n.5465C>G n.3886C>G n.3712C>G c.3885C>G c.2190C>G c.5737C>G (p.Leu1913Val) c.314C>G c.5734C>G (p.Leu1912Val) c.5707C>G (p.Leu1903Val) c.5698C>G (p.Leu1900Val) | |
| 12 | g.115975201G>T | CA386878162 | MED13L | c.5701C>A (p.Leu1901Ile) n.691C>A n.4069C>A n.5465C>A n.3886C>A n.3712C>A c.3885C>A c.2190C>A c.5737C>A (p.Leu1913Ile) c.314C>A c.5734C>A (p.Leu1912Ile) c.5707C>A (p.Leu1903Ile) c.5698C>A (p.Leu1900Ile) | |
| 12 | g.115975202T>A | CA481944686 | MED13L | c.5700A>T (p.Arg1900=) n.690A>T n.4068A>T n.5464A>T n.3885A>T n.3711A>T c.3884A>T c.2189A>T c.5736A>T (p.Arg1912=) c.313A>T c.5733A>T (p.Arg1911=) c.5706A>T (p.Arg1902=) c.5697A>T (p.Arg1899=) | |
| 12 | g.115975202T>C | CA6810530 | MED13L | c.5700A>G (p.Arg1900=) n.690A>G n.4068A>G n.5464A>G n.3885A>G n.3711A>G c.3884A>G c.2189A>G c.5736A>G (p.Arg1912=) c.313A>G c.5733A>G (p.Arg1911=) c.5706A>G (p.Arg1902=) c.5697A>G (p.Arg1899=) | dbSNP ExAC gnomAD v2 |
| 12 | g.115975202T>G | CA481944690 | MED13L | c.5700A>C (p.Arg1900=) n.690A>C n.4068A>C n.5464A>C n.3885A>C n.3711A>C c.3884A>C c.2189A>C c.5736A>C (p.Arg1912=) c.313A>C c.5733A>C (p.Arg1911=) c.5706A>C (p.Arg1902=) c.5697A>C (p.Arg1899=) | |
| 12 | g.115975202T= | CA2065412894 | MED13L | c.5700A= (p.Arg1900=) n.690A= n.4068A= n.5464A= n.3885A= n.3711A= c.3884A= c.2189A= c.5736A= (p.Arg1912=) c.313A= c.5733A= (p.Arg1911=) c.5706A= (p.Arg1902=) c.5697A= (p.Arg1899=) | |
| 12 | g.115975203C>A | CA386878165 | MED13L | c.5699G>T (p.Arg1900Leu) n.689G>T n.4067G>T n.5463G>T n.3884G>T n.3710G>T c.3883G>T c.2188G>T c.5735G>T (p.Arg1912Leu) c.312G>T c.5732G>T (p.Arg1911Leu) c.5705G>T (p.Arg1902Leu) c.5696G>T (p.Arg1899Leu) | dbSNP |
| 12 | g.115975203C>G | CA386878167 | MED13L | c.5699G>C (p.Arg1900Pro) n.689G>C n.4067G>C n.5463G>C n.3884G>C n.3710G>C c.3883G>C c.2188G>C c.5735G>C (p.Arg1912Pro) c.312G>C c.5732G>C (p.Arg1911Pro) c.5705G>C (p.Arg1902Pro) c.5696G>C (p.Arg1899Pro) | |
| 12 | g.115975203C>T | CA386878169 | MED13L | c.5699G>A (p.Arg1900Gln) n.689G>A n.4067G>A n.5463G>A n.3884G>A n.3710G>A c.3883G>A c.2188G>A c.5735G>A (p.Arg1912Gln) c.312G>A c.5732G>A (p.Arg1911Gln) c.5705G>A (p.Arg1902Gln) c.5696G>A (p.Arg1899Gln) | COSMIC |
| 12 | g.115975204G>A | CA386878171 | MED13L | c.5698C>T (p.Arg1900Ter) n.688C>T n.4066C>T n.5462C>T n.3883C>T n.3709C>T c.3882C>T c.2187C>T c.5734C>T (p.Arg1912Ter) c.311C>T c.5731C>T (p.Arg1911Ter) c.5704C>T (p.Arg1902Ter) c.5695C>T (p.Arg1899Ter) | ClinVar dbSNP |
| 12 | g.115975204G>C | CA386878173 | MED13L | c.5698C>G (p.Arg1900Gly) n.688C>G n.4066C>G n.5462C>G n.3883C>G n.3709C>G c.3882C>G c.2187C>G c.5734C>G (p.Arg1912Gly) c.311C>G c.5731C>G (p.Arg1911Gly) c.5704C>G (p.Arg1902Gly) c.5695C>G (p.Arg1899Gly) | |
| 12 | g.115975204G= | CA2065412895 | MED13L | c.5698C= (p.Arg1900=) n.688C= n.4066C= n.5462C= n.3883C= n.3709C= c.3882C= c.2187C= c.5734C= (p.Arg1912=) c.311C= c.5731C= (p.Arg1911=) c.5704C= (p.Arg1902=) c.5695C= (p.Arg1899=) | |
| 12 | g.115975204G>T | CA481944698 | MED13L | c.5698C>A (p.Arg1900=) n.688C>A n.4066C>A n.5462C>A n.3883C>A n.3709C>A c.3882C>A c.2187C>A c.5734C>A (p.Arg1912=) c.311C>A c.5731C>A (p.Arg1911=) c.5704C>A (p.Arg1902=) c.5695C>A (p.Arg1899=) | |
| 12 | g.115975205C>A | CA481944701 | MED13L | c.5697G>T (p.Gly1899=) n.687G>T n.4065G>T n.5461G>T n.3882G>T n.3708G>T c.3881G>T c.2186G>T c.5733G>T (p.Gly1911=) c.310G>T c.5730G>T (p.Gly1910=) c.5703G>T (p.Gly1901=) c.5694G>T (p.Gly1898=) | gnomAD v4 |
| 12 | g.115975205C= | CA2065412896 | MED13L | c.5697G= (p.Gly1899=) n.687G= n.4065G= n.5461G= n.3882G= n.3708G= c.3881G= c.2186G= c.5733G= (p.Gly1911=) c.310G= c.5730G= (p.Gly1910=) c.5703G= (p.Gly1901=) c.5694G= (p.Gly1898=) | |
| 12 | g.115975205C>G | CA481944703 | MED13L | c.5697G>C (p.Gly1899=) n.687G>C n.4065G>C n.5461G>C n.3882G>C n.3708G>C c.3881G>C c.2186G>C c.5733G>C (p.Gly1911=) c.310G>C c.5730G>C (p.Gly1910=) c.5703G>C (p.Gly1901=) c.5694G>C (p.Gly1898=) | |
| 12 | g.115975205C>T | CA6810531 | MED13L | c.5697G>A (p.Gly1899=) n.687G>A n.4065G>A n.5461G>A n.3882G>A n.3708G>A c.3881G>A c.2186G>A c.5733G>A (p.Gly1911=) c.310G>A c.5730G>A (p.Gly1910=) c.5703G>A (p.Gly1901=) c.5694G>A (p.Gly1898=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.115975206C>A | CA386878180 | MED13L | c.5696G>T (p.Gly1899Val) n.686G>T n.4064G>T n.5460G>T n.3881G>T n.3707G>T c.3880G>T c.2185G>T c.5732G>T (p.Gly1911Val) c.309G>T c.5729G>T (p.Gly1910Val) c.5702G>T (p.Gly1901Val) c.5693G>T (p.Gly1898Val) | COSMIC |
| 12 | g.115975206C>G | CA386878178 | MED13L | c.5696G>C (p.Gly1899Ala) n.686G>C n.4064G>C n.5460G>C n.3881G>C n.3707G>C c.3880G>C c.2185G>C c.5732G>C (p.Gly1911Ala) c.309G>C c.5729G>C (p.Gly1910Ala) c.5702G>C (p.Gly1901Ala) c.5693G>C (p.Gly1898Ala) | |
| 12 | g.115975206C>T | CA386878176 | MED13L | c.5696G>A (p.Gly1899Glu) n.686G>A n.4064G>A n.5460G>A n.3881G>A n.3707G>A c.3880G>A c.2185G>A c.5732G>A (p.Gly1911Glu) c.309G>A c.5729G>A (p.Gly1910Glu) c.5702G>A (p.Gly1901Glu) c.5693G>A (p.Gly1898Glu) | |
| 12 | g.115975207C>A | CA386878182 | MED13L | c.5695G>T (p.Gly1899Trp) n.685G>T n.4063G>T n.5459G>T n.3880G>T n.3706G>T c.3879G>T c.2184G>T c.5731G>T (p.Gly1911Trp) c.308G>T c.5728G>T (p.Gly1910Trp) c.5701G>T (p.Gly1901Trp) c.5692G>T (p.Gly1898Trp) | |
| 12 | g.115975207C>G | CA386878186 | MED13L | c.5695G>C (p.Gly1899Arg) n.685G>C n.4063G>C n.5459G>C n.3880G>C n.3706G>C c.3879G>C c.2184G>C c.5731G>C (p.Gly1911Arg) c.308G>C c.5728G>C (p.Gly1910Arg) c.5701G>C (p.Gly1901Arg) c.5692G>C (p.Gly1898Arg) | |
| 12 | g.115975207C>T | CA386878184 | MED13L | c.5695G>A (p.Gly1899Arg) n.685G>A n.4063G>A n.5459G>A n.3880G>A n.3706G>A c.3879G>A c.2184G>A c.5731G>A (p.Gly1911Arg) c.308G>A c.5728G>A (p.Gly1910Arg) c.5701G>A (p.Gly1901Arg) c.5692G>A (p.Gly1898Arg) | ClinVar dbSNP |
| 12 | g.115975208G>A | CA6810532 | MED13L | c.5694C>T (p.Ile1898=) n.684C>T n.4062C>T n.5458C>T n.3879C>T n.3705C>T c.3878C>T c.2183C>T c.5730C>T (p.Ile1910=) c.307C>T c.5727C>T (p.Ile1909=) c.5700C>T (p.Ile1900=) c.5691C>T (p.Ile1897=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.115975208G>C | CA386878189 | MED13L | c.5694C>G (p.Ile1898Met) n.684C>G n.4062C>G n.5458C>G n.3879C>G n.3705C>G c.3878C>G c.2183C>G c.5730C>G (p.Ile1910Met) c.307C>G c.5727C>G (p.Ile1909Met) c.5700C>G (p.Ile1900Met) c.5691C>G (p.Ile1897Met) | |
| 12 | g.115975208G= | CA2065412897 | MED13L | c.5694C= (p.Ile1898=) n.684C= n.4062C= n.5458C= n.3879C= n.3705C= c.3878C= c.2183C= c.5730C= (p.Ile1910=) c.307C= c.5727C= (p.Ile1909=) c.5700C= (p.Ile1900=) c.5691C= (p.Ile1897=) | |
| 12 | g.115975208G>T | CA481944715 | MED13L | c.5694C>A (p.Ile1898=) n.684C>A n.4062C>A n.5458C>A n.3879C>A n.3705C>A c.3878C>A c.2183C>A c.5730C>A (p.Ile1910=) c.307C>A c.5727C>A (p.Ile1909=) c.5700C>A (p.Ile1900=) c.5691C>A (p.Ile1897=) | |
| 12 | g.115975209A>C | CA386878191 | MED13L | c.5693T>G (p.Ile1898Ser) n.683T>G n.4061T>G n.5457T>G n.3878T>G n.3704T>G c.3877T>G c.2182T>G c.5729T>G (p.Ile1910Ser) c.306T>G c.5726T>G (p.Ile1909Ser) c.5699T>G (p.Ile1900Ser) c.5690T>G (p.Ile1897Ser) | |
| 12 | g.115975209A>G | CA386878193 | MED13L | c.5693T>C (p.Ile1898Thr) n.683T>C n.4061T>C n.5457T>C n.3878T>C n.3704T>C c.3877T>C c.2182T>C c.5729T>C (p.Ile1910Thr) c.306T>C c.5726T>C (p.Ile1909Thr) c.5699T>C (p.Ile1900Thr) c.5690T>C (p.Ile1897Thr) | |
| 12 | g.115975209A>T | CA386878195 | MED13L | c.5693T>A (p.Ile1898Asn) n.683T>A n.4061T>A n.5457T>A n.3878T>A n.3704T>A c.3877T>A c.2182T>A c.5729T>A (p.Ile1910Asn) c.306T>A c.5726T>A (p.Ile1909Asn) c.5699T>A (p.Ile1900Asn) c.5690T>A (p.Ile1897Asn) | |
| 12 | g.115975210T>A | CA6810533 | MED13L | c.5692A>T (p.Ile1898Phe) n.682A>T n.4060A>T n.5456A>T n.3877A>T n.3703A>T c.3876A>T c.2181A>T c.5728A>T (p.Ile1910Phe) c.305A>T c.5725A>T (p.Ile1909Phe) c.5698A>T (p.Ile1900Phe) c.5689A>T (p.Ile1897Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.115975210T>C | CA386878198 | MED13L | c.5692A>G (p.Ile1898Val) n.682A>G n.4060A>G n.5456A>G n.3877A>G n.3703A>G c.3876A>G c.2181A>G c.5728A>G (p.Ile1910Val) c.305A>G c.5725A>G (p.Ile1909Val) c.5698A>G (p.Ile1900Val) c.5689A>G (p.Ile1897Val) | gnomAD v4 |
| 12 | g.115975210T>G | CA386878196 | MED13L | c.5692A>C (p.Ile1898Leu) n.682A>C n.4060A>C n.5456A>C n.3877A>C n.3703A>C c.3876A>C c.2181A>C c.5728A>C (p.Ile1910Leu) c.305A>C c.5725A>C (p.Ile1909Leu) c.5698A>C (p.Ile1900Leu) c.5689A>C (p.Ile1897Leu) | |
| 12 | g.115975210T= | CA2065412898 | MED13L | c.5692A= (p.Ile1898=) n.682A= n.4060A= n.5456A= n.3877A= n.3703A= c.3876A= c.2181A= c.5728A= (p.Ile1910=) c.305A= c.5725A= (p.Ile1909=) c.5698A= (p.Ile1900=) c.5689A= (p.Ile1897=) | |
| 12 | g.115975211T>A | CA481944728 | MED13L | c.5691A>T (p.Val1897=) n.681A>T n.4059A>T n.5455A>T n.3876A>T n.3702A>T c.3875A>T c.2180A>T c.5727A>T (p.Val1909=) c.304A>T c.5724A>T (p.Val1908=) c.5697A>T (p.Val1899=) c.5688A>T (p.Val1896=) | |
| 12 | g.115975211T>C | CA481944726 | MED13L | c.5691A>G (p.Val1897=) n.681A>G n.4059A>G n.5455A>G n.3876A>G n.3702A>G c.3875A>G c.2180A>G c.5727A>G (p.Val1909=) c.304A>G c.5724A>G (p.Val1908=) c.5697A>G (p.Val1899=) c.5688A>G (p.Val1896=) | |
| 12 | g.115975211T>G | CA481944724 | MED13L | c.5691A>C (p.Val1897=) n.681A>C n.4059A>C n.5455A>C n.3876A>C n.3702A>C c.3875A>C c.2180A>C c.5727A>C (p.Val1909=) c.304A>C c.5724A>C (p.Val1908=) c.5697A>C (p.Val1899=) c.5688A>C (p.Val1896=) | |
| 12 | g.115975212A>C | CA386878201 | MED13L | c.5690T>G (p.Val1897Gly) n.680T>G n.4058T>G n.5454T>G n.3875T>G n.3701T>G c.3874T>G c.2179T>G c.5726T>G (p.Val1909Gly) c.303T>G c.5723T>G (p.Val1908Gly) c.5696T>G (p.Val1899Gly) c.5687T>G (p.Val1896Gly) | |
| 12 | g.115975212A>G | CA386878202 | MED13L | c.5690T>C (p.Val1897Ala) n.680T>C n.4058T>C n.5454T>C n.3875T>C n.3701T>C c.3874T>C c.2179T>C c.5726T>C (p.Val1909Ala) c.303T>C c.5723T>C (p.Val1908Ala) c.5696T>C (p.Val1899Ala) c.5687T>C (p.Val1896Ala) | |
| 12 | g.115975212A>T | CA386878204 | MED13L | c.5690T>A (p.Val1897Glu) n.680T>A n.4058T>A n.5454T>A n.3875T>A n.3701T>A c.3874T>A c.2179T>A c.5726T>A (p.Val1909Glu) c.303T>A c.5723T>A (p.Val1908Glu) c.5696T>A (p.Val1899Glu) c.5687T>A (p.Val1896Glu) | |
| 12 | g.115975213C>A | CA386878206 | MED13L | c.5689G>T (p.Val1897Leu) n.679G>T n.4057G>T n.5453G>T n.3874G>T n.3700G>T c.3873G>T c.2178G>T c.5725G>T (p.Val1909Leu) c.302G>T c.5722G>T (p.Val1908Leu) c.5695G>T (p.Val1899Leu) c.5686G>T (p.Val1896Leu) | |
| 12 | g.115975213C>G | CA386878208 | MED13L | c.5689G>C (p.Val1897Leu) n.679G>C n.4057G>C n.5453G>C n.3874G>C n.3700G>C c.3873G>C c.2178G>C c.5725G>C (p.Val1909Leu) c.302G>C c.5722G>C (p.Val1908Leu) c.5695G>C (p.Val1899Leu) c.5686G>C (p.Val1896Leu) | |
| 12 | g.115975213C>T | CA386878210 | MED13L | c.5689G>A (p.Val1897Ile) n.679G>A n.4057G>A n.5453G>A n.3874G>A n.3700G>A c.3873G>A c.2178G>A c.5725G>A (p.Val1909Ile) c.302G>A c.5722G>A (p.Val1908Ile) c.5695G>A (p.Val1899Ile) c.5686G>A (p.Val1896Ile) | |
| 12 | g.115975214A>C | CA481944736 | MED13L | c.5688T>G (p.Val1896=) n.678T>G n.4056T>G n.5452T>G n.3873T>G n.3699T>G c.3872T>G c.2177T>G c.5724T>G (p.Val1908=) c.301T>G c.5721T>G (p.Val1907=) c.5694T>G (p.Val1898=) c.5685T>G (p.Val1895=) | |
| 12 | g.115975214A>G | CA481944735 | MED13L | c.5688T>C (p.Val1896=) n.678T>C n.4056T>C n.5452T>C n.3873T>C n.3699T>C c.3872T>C c.2177T>C c.5724T>C (p.Val1908=) c.301T>C c.5721T>C (p.Val1907=) c.5694T>C (p.Val1898=) c.5685T>C (p.Val1895=) | |
| 12 | g.115975214A>T | CA481944734 | MED13L | c.5688T>A (p.Val1896=) n.678T>A n.4056T>A n.5452T>A n.3873T>A n.3699T>A c.3872T>A c.2177T>A c.5724T>A (p.Val1908=) c.301T>A c.5721T>A (p.Val1907=) c.5694T>A (p.Val1898=) c.5685T>A (p.Val1895=) | |
| 12 | g.115975215A>C | CA386878212 | MED13L | c.5687T>G (p.Val1896Gly) n.677T>G n.4055T>G n.5451T>G n.3872T>G n.3698T>G c.3871T>G c.2176T>G c.5723T>G (p.Val1908Gly) c.300T>G c.5720T>G (p.Val1907Gly) c.5693T>G (p.Val1898Gly) c.5684T>G (p.Val1895Gly) | |
| 12 | g.115975215A>G | CA386878216 | MED13L | c.5687T>C (p.Val1896Ala) n.677T>C n.4055T>C n.5451T>C n.3872T>C n.3698T>C c.3871T>C c.2176T>C c.5723T>C (p.Val1908Ala) c.300T>C c.5720T>C (p.Val1907Ala) c.5693T>C (p.Val1898Ala) c.5684T>C (p.Val1895Ala) | |
| 12 | g.115975215A>T | CA386878214 | MED13L | c.5687T>A (p.Val1896Asp) n.677T>A n.4055T>A n.5451T>A n.3872T>A n.3698T>A c.3871T>A c.2176T>A c.5723T>A (p.Val1908Asp) c.300T>A c.5720T>A (p.Val1907Asp) c.5693T>A (p.Val1898Asp) c.5684T>A (p.Val1895Asp) | ClinVar |
| 12 | g.115975216C>A | CA386878218 | MED13L | c.5686G>T (p.Val1896Phe) n.676G>T n.4054G>T n.5450G>T n.3871G>T n.3697G>T c.3870G>T c.2175G>T c.5722G>T (p.Val1908Phe) c.299G>T c.5719G>T (p.Val1907Phe) c.5692G>T (p.Val1898Phe) c.5683G>T (p.Val1895Phe) | |
| 12 | g.115975216C= | CA2065412899 | MED13L | c.5686G= (p.Val1896=) n.676G= n.4054G= n.5450G= n.3871G= n.3697G= c.3870G= c.2175G= c.5722G= (p.Val1908=) c.299G= c.5719G= (p.Val1907=) c.5692G= (p.Val1898=) c.5683G= (p.Val1895=) | |
| 12 | g.115975216C>G | CA386878219 | MED13L | c.5686G>C (p.Val1896Leu) n.676G>C n.4054G>C n.5450G>C n.3871G>C n.3697G>C c.3870G>C c.2175G>C c.5722G>C (p.Val1908Leu) c.299G>C c.5719G>C (p.Val1907Leu) c.5692G>C (p.Val1898Leu) c.5683G>C (p.Val1895Leu) | |
| 12 | g.115975216C>T | CA386878221 | MED13L | c.5686G>A (p.Val1896Ile) n.676G>A n.4054G>A n.5450G>A n.3871G>A n.3697G>A c.3870G>A c.2175G>A c.5722G>A (p.Val1908Ile) c.299G>A c.5719G>A (p.Val1907Ile) c.5692G>A (p.Val1898Ile) c.5683G>A (p.Val1895Ile) | dbSNP |
| 12 | g.115975217T>A | CA386878224 | MED13L | c.5685A>T (p.Arg1895Ser) n.675A>T n.4053A>T n.5449A>T n.3870A>T n.3696A>T c.3869A>T c.2174A>T c.5721A>T (p.Arg1907Ser) c.298A>T c.5718A>T (p.Arg1906Ser) c.5691A>T (p.Arg1897Ser) c.5682A>T (p.Arg1894Ser) | |
| 12 | g.115975217T>C | CA244136161 | MED13L | c.5685A>G (p.Arg1895=) n.675A>G n.4053A>G n.5449A>G n.3870A>G n.3696A>G c.3869A>G c.2174A>G c.5721A>G (p.Arg1907=) c.298A>G c.5718A>G (p.Arg1906=) c.5691A>G (p.Arg1897=) c.5682A>G (p.Arg1894=) | dbSNP gnomAD v4 |
| 12 | g.115975217T>G | CA386878226 | MED13L | c.5685A>C (p.Arg1895Ser) n.675A>C n.4053A>C n.5449A>C n.3870A>C n.3696A>C c.3869A>C c.2174A>C c.5721A>C (p.Arg1907Ser) c.298A>C c.5718A>C (p.Arg1906Ser) c.5691A>C (p.Arg1897Ser) c.5682A>C (p.Arg1894Ser) | |
| 12 | g.115975217T= | CA2065412900 | MED13L | c.5685A= (p.Arg1895=) n.675A= n.4053A= n.5449A= n.3870A= n.3696A= c.3869A= c.2174A= c.5721A= (p.Arg1907=) c.298A= c.5718A= (p.Arg1906=) c.5691A= (p.Arg1897=) c.5682A= (p.Arg1894=) | |
| 12 | g.115975218C>A | CA386878229 | MED13L | c.5684G>T (p.Arg1895Ile) n.674G>T n.4052G>T n.5448G>T n.3869G>T n.3695G>T c.3868G>T c.2173G>T c.5720G>T (p.Arg1907Ile) c.297G>T c.5717G>T (p.Arg1906Ile) c.5690G>T (p.Arg1897Ile) c.5681G>T (p.Arg1894Ile) | |
| 12 | g.115975218C>G | CA386878230 | MED13L | c.5684G>C (p.Arg1895Thr) n.674G>C n.4052G>C n.5448G>C n.3869G>C n.3695G>C c.3868G>C c.2173G>C c.5720G>C (p.Arg1907Thr) c.297G>C c.5717G>C (p.Arg1906Thr) c.5690G>C (p.Arg1897Thr) c.5681G>C (p.Arg1894Thr) | |
| 12 | g.115975218C>T | CA386878232 | MED13L | c.5684G>A (p.Arg1895Lys) n.674G>A n.4052G>A n.5448G>A n.3869G>A n.3695G>A c.3868G>A c.2173G>A c.5720G>A (p.Arg1907Lys) c.297G>A c.5717G>A (p.Arg1906Lys) c.5690G>A (p.Arg1897Lys) c.5681G>A (p.Arg1894Lys) | |
| 12 | g.115975219T>A | CA386878234 | MED13L | c.5683A>T (p.Arg1895Ter) n.673A>T n.4051A>T n.5447A>T n.3868A>T n.3694A>T c.3867A>T c.2172A>T c.5719A>T (p.Arg1907Ter) c.296A>T c.5716A>T (p.Arg1906Ter) c.5689A>T (p.Arg1897Ter) c.5680A>T (p.Arg1894Ter) | |
| 12 | g.115975219T>C | CA386878236 | MED13L | c.5683A>G (p.Arg1895Gly) n.673A>G n.4051A>G n.5447A>G n.3868A>G n.3694A>G c.3867A>G c.2172A>G c.5719A>G (p.Arg1907Gly) c.296A>G c.5716A>G (p.Arg1906Gly) c.5689A>G (p.Arg1897Gly) c.5680A>G (p.Arg1894Gly) | |
| 12 | g.115975219T>G | CA481944754 | MED13L | c.5683A>C (p.Arg1895=) n.673A>C n.4051A>C n.5447A>C n.3868A>C n.3694A>C c.3867A>C c.2172A>C c.5719A>C (p.Arg1907=) c.296A>C c.5716A>C (p.Arg1906=) c.5689A>C (p.Arg1897=) c.5680A>C (p.Arg1894=) | |
| 12 | g.115975220C>A | CA386878238 | MED13L | c.5682G>T (p.Trp1894Cys) n.672G>T n.4050G>T n.5446G>T n.3867G>T n.3693G>T c.3866G>T c.2171G>T c.5718G>T (p.Trp1906Cys) c.295G>T c.5715G>T (p.Trp1905Cys) c.5688G>T (p.Trp1896Cys) c.5679G>T (p.Trp1893Cys) | |
| 12 | g.115975220C>G | CA386878241 | MED13L | c.5682G>C (p.Trp1894Cys) n.672G>C n.4050G>C n.5446G>C n.3867G>C n.3693G>C c.3866G>C c.2171G>C c.5718G>C (p.Trp1906Cys) c.295G>C c.5715G>C (p.Trp1905Cys) c.5688G>C (p.Trp1896Cys) c.5679G>C (p.Trp1893Cys) | |
| 12 | g.115975220C>T | CA386878240 | MED13L | c.5682G>A (p.Trp1894Ter) n.672G>A n.4050G>A n.5446G>A n.3867G>A n.3693G>A c.3866G>A c.2171G>A c.5718G>A (p.Trp1906Ter) c.295G>A c.5715G>A (p.Trp1905Ter) c.5688G>A (p.Trp1896Ter) c.5679G>A (p.Trp1893Ter) | |
| 12 | g.115975221C>A | CA386878244 | MED13L | c.5681G>T (p.Trp1894Leu) n.671G>T n.4049G>T n.5445G>T n.3866G>T n.3692G>T c.3865G>T c.2170G>T c.5717G>T (p.Trp1906Leu) c.294G>T c.5714G>T (p.Trp1905Leu) c.5687G>T (p.Trp1896Leu) c.5678G>T (p.Trp1893Leu) | |
| 12 | g.115975221C>G | CA386878246 | MED13L | c.5681G>C (p.Trp1894Ser) n.671G>C n.4049G>C n.5445G>C n.3866G>C n.3692G>C c.3865G>C c.2170G>C c.5717G>C (p.Trp1906Ser) c.294G>C c.5714G>C (p.Trp1905Ser) c.5687G>C (p.Trp1896Ser) c.5678G>C (p.Trp1893Ser) | |
| 12 | g.115975221C>T | CA386878247 | MED13L | c.5681G>A (p.Trp1894Ter) n.671G>A n.4049G>A n.5445G>A n.3866G>A n.3692G>A c.3865G>A c.2170G>A c.5717G>A (p.Trp1906Ter) c.294G>A c.5714G>A (p.Trp1905Ter) c.5687G>A (p.Trp1896Ter) c.5678G>A (p.Trp1893Ter) | |
| 12 | g.115975222A= | CA2065412901 | MED13L | c.5680T= (p.Trp1894=) n.670T= n.4048T= n.5444T= n.3865T= n.3691T= c.3864T= c.2169T= c.5716T= (p.Trp1906=) c.293T= c.5713T= (p.Trp1905=) c.5686T= (p.Trp1896=) c.5677T= (p.Trp1893=) | |
| 12 | g.115975222A>C | CA386878250 | MED13L | c.5680T>G (p.Trp1894Gly) n.670T>G n.4048T>G n.5444T>G n.3865T>G n.3691T>G c.3864T>G c.2169T>G c.5716T>G (p.Trp1906Gly) c.293T>G c.5713T>G (p.Trp1905Gly) c.5686T>G (p.Trp1896Gly) c.5677T>G (p.Trp1893Gly) | |
| 12 | g.115975222A>G | CA386878252 | MED13L | c.5680T>C (p.Trp1894Arg) n.670T>C n.4048T>C n.5444T>C n.3865T>C n.3691T>C c.3864T>C c.2169T>C c.5716T>C (p.Trp1906Arg) c.293T>C c.5713T>C (p.Trp1905Arg) c.5686T>C (p.Trp1896Arg) c.5677T>C (p.Trp1893Arg) | dbSNP gnomAD v4 |
| 12 | g.115975222A>T | CA386878253 | MED13L | c.5680T>A (p.Trp1894Arg) n.670T>A n.4048T>A n.5444T>A n.3865T>A n.3691T>A c.3864T>A c.2169T>A c.5716T>A (p.Trp1906Arg) c.293T>A c.5713T>A (p.Trp1905Arg) c.5686T>A (p.Trp1896Arg) c.5677T>A (p.Trp1893Arg) | |
| 12 | g.115975223G>A | CA481944760 | MED13L | c.5679C>T (p.Pro1893=) n.669C>T n.4047C>T n.5443C>T n.3864C>T n.3690C>T c.3863C>T c.2168C>T c.5715C>T (p.Pro1905=) c.292C>T c.5712C>T (p.Pro1904=) c.5685C>T (p.Pro1895=) c.5676C>T (p.Pro1892=) | |
| 12 | g.115975223G>C | CA481944762 | MED13L | c.5679C>G (p.Pro1893=) n.669C>G n.4047C>G n.5443C>G n.3864C>G n.3690C>G c.3863C>G c.2168C>G c.5715C>G (p.Pro1905=) c.292C>G c.5712C>G (p.Pro1904=) c.5685C>G (p.Pro1895=) c.5676C>G (p.Pro1892=) | |
| 12 | g.115975223G>T | CA481944763 | MED13L | c.5679C>A (p.Pro1893=) n.669C>A n.4047C>A n.5443C>A n.3864C>A n.3690C>A c.3863C>A c.2168C>A c.5715C>A (p.Pro1905=) c.292C>A c.5712C>A (p.Pro1904=) c.5685C>A (p.Pro1895=) c.5676C>A (p.Pro1892=) | |
| 12 | g.115975224G>A | CA386878256 | MED13L | c.5678C>T (p.Pro1893Leu) n.668C>T n.4046C>T n.5442C>T n.3863C>T n.3689C>T c.3862C>T c.2167C>T c.5714C>T (p.Pro1905Leu) c.291C>T c.5711C>T (p.Pro1904Leu) c.5684C>T (p.Pro1895Leu) c.5675C>T (p.Pro1892Leu) | |
| 12 | g.115975224G>C | CA386878257 | MED13L | c.5678C>G (p.Pro1893Arg) n.668C>G n.4046C>G n.5442C>G n.3863C>G n.3689C>G c.3862C>G c.2167C>G c.5714C>G (p.Pro1905Arg) c.291C>G c.5711C>G (p.Pro1904Arg) c.5684C>G (p.Pro1895Arg) c.5675C>G (p.Pro1892Arg) | |
| 12 | g.115975224G>T | CA386878259 | MED13L | c.5678C>A (p.Pro1893His) n.668C>A n.4046C>A n.5442C>A n.3863C>A n.3689C>A c.3862C>A c.2167C>A c.5714C>A (p.Pro1905His) c.291C>A c.5711C>A (p.Pro1904His) c.5684C>A (p.Pro1895His) c.5675C>A (p.Pro1892His) | |
| 12 | g.115975225G>A | CA386878261 | MED13L | c.5677C>T (p.Pro1893Ser) n.667C>T n.4045C>T n.5441C>T n.3862C>T n.3688C>T c.3861C>T c.2166C>T c.5713C>T (p.Pro1905Ser) c.290C>T c.5710C>T (p.Pro1904Ser) c.5683C>T (p.Pro1895Ser) c.5674C>T (p.Pro1892Ser) | |
| 12 | g.115975225G>C | CA386878263 | MED13L | c.5677C>G (p.Pro1893Ala) n.667C>G n.4045C>G n.5441C>G n.3862C>G n.3688C>G c.3861C>G c.2166C>G c.5713C>G (p.Pro1905Ala) c.290C>G c.5710C>G (p.Pro1904Ala) c.5683C>G (p.Pro1895Ala) c.5674C>G (p.Pro1892Ala) | |
| 12 | g.115975225G>T | CA386878265 | MED13L | c.5677C>A (p.Pro1893Thr) n.667C>A n.4045C>A n.5441C>A n.3862C>A n.3688C>A c.3861C>A c.2166C>A c.5713C>A (p.Pro1905Thr) c.290C>A c.5710C>A (p.Pro1904Thr) c.5683C>A (p.Pro1895Thr) c.5674C>A (p.Pro1892Thr) | |
| 12 | g.115975226T>A | CA481944774 | MED13L | c.5676A>T (p.Leu1892=) n.666A>T n.4044A>T n.5440A>T n.3861A>T n.3687A>T c.3860A>T c.2165A>T c.5712A>T (p.Leu1904=) c.289A>T c.5709A>T (p.Leu1903=) c.5682A>T (p.Leu1894=) c.5673A>T (p.Leu1891=) | dbSNP |
| 12 | g.115975226T>C | CA481944777 | MED13L | c.5676A>G (p.Leu1892=) n.666A>G n.4044A>G n.5440A>G n.3861A>G n.3687A>G c.3860A>G c.2165A>G c.5712A>G (p.Leu1904=) c.289A>G c.5709A>G (p.Leu1903=) c.5682A>G (p.Leu1894=) c.5673A>G (p.Leu1891=) | |
| 12 | g.115975226T>G | CA481944778 | MED13L | c.5676A>C (p.Leu1892=) n.666A>C n.4044A>C n.5440A>C n.3861A>C n.3687A>C c.3860A>C c.2165A>C c.5712A>C (p.Leu1904=) c.289A>C c.5709A>C (p.Leu1903=) c.5682A>C (p.Leu1894=) c.5673A>C (p.Leu1891=) | |
| 12 | g.115975226T= | CA2065412902 | MED13L | c.5676A= (p.Leu1892=) n.666A= n.4044A= n.5440A= n.3861A= n.3687A= c.3860A= c.2165A= c.5712A= (p.Leu1904=) c.289A= c.5709A= (p.Leu1903=) c.5682A= (p.Leu1894=) c.5673A= (p.Leu1891=) | |
| 12 | g.115975227A>C | CA386878271 | MED13L | c.5675T>G (p.Leu1892Arg) n.665T>G n.4043T>G n.5439T>G n.3860T>G n.3686T>G c.3859T>G c.2164T>G c.5711T>G (p.Leu1904Arg) c.288T>G c.5708T>G (p.Leu1903Arg) c.5681T>G (p.Leu1894Arg) c.5672T>G (p.Leu1891Arg) | gnomAD v4 |
| 12 | g.115975227A>G | CA386878267 | MED13L | c.5675T>C (p.Leu1892Pro) n.665T>C n.4043T>C n.5439T>C n.3860T>C n.3686T>C c.3859T>C c.2164T>C c.5711T>C (p.Leu1904Pro) c.288T>C c.5708T>C (p.Leu1903Pro) c.5681T>C (p.Leu1894Pro) c.5672T>C (p.Leu1891Pro) | |
| 12 | g.115975227A>T | CA386878269 | MED13L | c.5675T>A (p.Leu1892Gln) n.665T>A n.4043T>A n.5439T>A n.3860T>A n.3686T>A c.3859T>A c.2164T>A c.5711T>A (p.Leu1904Gln) c.288T>A c.5708T>A (p.Leu1903Gln) c.5681T>A (p.Leu1894Gln) c.5672T>A (p.Leu1891Gln) | |
| 12 | g.115975228G>A | CA481944783 | MED13L | c.5674C>T (p.Leu1892=) n.664C>T n.4042C>T n.5438C>T n.3859C>T n.3685C>T c.3858C>T c.2163C>T c.5710C>T (p.Leu1904=) c.287C>T c.5707C>T (p.Leu1903=) c.5680C>T (p.Leu1894=) c.5671C>T (p.Leu1891=) | |
| 12 | g.115975228G>C | CA386878273 | MED13L | c.5674C>G (p.Leu1892Val) n.664C>G n.4042C>G n.5438C>G n.3859C>G n.3685C>G c.3858C>G c.2163C>G c.5710C>G (p.Leu1904Val) c.287C>G c.5707C>G (p.Leu1903Val) c.5680C>G (p.Leu1894Val) c.5671C>G (p.Leu1891Val) | gnomAD v4 |
| 12 | g.115975228G>T | CA386878275 | MED13L | c.5674C>A (p.Leu1892Ile) n.664C>A n.4042C>A n.5438C>A n.3859C>A n.3685C>A c.3858C>A c.2163C>A c.5710C>A (p.Leu1904Ile) c.287C>A c.5707C>A (p.Leu1903Ile) c.5680C>A (p.Leu1894Ile) c.5671C>A (p.Leu1891Ile) | |
| 12 | g.115975229A>C | CA481944788 | MED13L | c.5673T>G (p.Ser1891=) n.663T>G n.4041T>G n.5437T>G n.3858T>G n.3684T>G c.3857T>G c.2162T>G c.5709T>G (p.Ser1903=) c.286T>G c.5706T>G (p.Ser1902=) c.5679T>G (p.Ser1893=) c.5670T>G (p.Ser1890=) | |
| 12 | g.115975229A>G | CA481944789 | MED13L | c.5673T>C (p.Ser1891=) n.663T>C n.4041T>C n.5437T>C n.3858T>C n.3684T>C c.3857T>C c.2162T>C c.5709T>C (p.Ser1903=) c.286T>C c.5706T>C (p.Ser1902=) c.5679T>C (p.Ser1893=) c.5670T>C (p.Ser1890=) | |
| 12 | g.115975229A>T | CA481944791 | MED13L | c.5673T>A (p.Ser1891=) n.663T>A n.4041T>A n.5437T>A n.3858T>A n.3684T>A c.3857T>A c.2162T>A c.5709T>A (p.Ser1903=) c.286T>A c.5706T>A (p.Ser1902=) c.5679T>A (p.Ser1893=) c.5670T>A (p.Ser1890=) | |
| 12 | g.115975230G>A | CA386878277 | MED13L | c.5672C>T (p.Ser1891Phe) n.662C>T n.4040C>T n.5436C>T n.3857C>T n.3683C>T c.3856C>T c.2161C>T c.5708C>T (p.Ser1903Phe) c.285C>T c.5705C>T (p.Ser1902Phe) c.5678C>T (p.Ser1893Phe) c.5669C>T (p.Ser1890Phe) | |
| 12 | g.115975230G>C | CA386878280 | MED13L | c.5672C>G (p.Ser1891Cys) n.662C>G n.4040C>G n.5436C>G n.3857C>G n.3683C>G c.3856C>G c.2161C>G c.5708C>G (p.Ser1903Cys) c.285C>G c.5705C>G (p.Ser1902Cys) c.5678C>G (p.Ser1893Cys) c.5669C>G (p.Ser1890Cys) | |
| 12 | g.115975230G>T | CA386878282 | MED13L | c.5672C>A (p.Ser1891Tyr) n.662C>A n.4040C>A n.5436C>A n.3857C>A n.3683C>A c.3856C>A c.2161C>A c.5708C>A (p.Ser1903Tyr) c.285C>A c.5705C>A (p.Ser1902Tyr) c.5678C>A (p.Ser1893Tyr) c.5669C>A (p.Ser1890Tyr) | |
| 12 | g.115975231A>C | CA386878284 | MED13L | c.5671T>G (p.Ser1891Ala) n.661T>G n.4039T>G n.5435T>G n.3856T>G n.3682T>G c.3855T>G c.2160T>G c.5707T>G (p.Ser1903Ala) c.284T>G c.5704T>G (p.Ser1902Ala) c.5677T>G (p.Ser1893Ala) c.5668T>G (p.Ser1890Ala) | |
| 12 | g.115975231A>G | CA386878286 | MED13L | c.5671T>C (p.Ser1891Pro) n.661T>C n.4039T>C n.5435T>C n.3856T>C n.3682T>C c.3855T>C c.2160T>C c.5707T>C (p.Ser1903Pro) c.284T>C c.5704T>C (p.Ser1902Pro) c.5677T>C (p.Ser1893Pro) c.5668T>C (p.Ser1890Pro) | |
| 12 | g.115975231A>T | CA386878288 | MED13L | c.5671T>A (p.Ser1891Thr) n.661T>A n.4039T>A n.5435T>A n.3856T>A n.3682T>A c.3855T>A c.2160T>A c.5707T>A (p.Ser1903Thr) c.284T>A c.5704T>A (p.Ser1902Thr) c.5677T>A (p.Ser1893Thr) c.5668T>A (p.Ser1890Thr) | |
| 12 | g.115975232T>A | CA481944801 | MED13L | c.5670A>T (p.Thr1890=) n.660A>T n.4038A>T n.5434A>T n.3855A>T n.3681A>T c.3854A>T c.2159A>T c.5706A>T (p.Thr1902=) c.283A>T c.5703A>T (p.Thr1901=) c.5676A>T (p.Thr1892=) c.5667A>T (p.Thr1889=) | |
| 12 | g.115975232T>C | CA481944803 | MED13L | c.5670A>G (p.Thr1890=) n.660A>G n.4038A>G n.5434A>G n.3855A>G n.3681A>G c.3854A>G c.2159A>G c.5706A>G (p.Thr1902=) c.283A>G c.5703A>G (p.Thr1901=) c.5676A>G (p.Thr1892=) c.5667A>G (p.Thr1889=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.115975232T>G | CA481944798 | MED13L | c.5670A>C (p.Thr1890=) n.660A>C n.4038A>C n.5434A>C n.3855A>C n.3681A>C c.3854A>C c.2159A>C c.5706A>C (p.Thr1902=) c.283A>C c.5703A>C (p.Thr1901=) c.5676A>C (p.Thr1892=) c.5667A>C (p.Thr1889=) | |
| 12 | g.115975232T= | CA2065412903 | MED13L | c.5670A= (p.Thr1890=) n.660A= n.4038A= n.5434A= n.3855A= n.3681A= c.3854A= c.2159A= c.5706A= (p.Thr1902=) c.283A= c.5703A= (p.Thr1901=) c.5676A= (p.Thr1892=) c.5667A= (p.Thr1889=) | |
| 12 | g.115975233G>A | CA386878290 | MED13L | c.5669C>T (p.Thr1890Ile) n.659C>T n.4037C>T n.5433C>T n.3854C>T n.3680C>T c.3853C>T c.2158C>T c.5705C>T (p.Thr1902Ile) c.282C>T c.5702C>T (p.Thr1901Ile) c.5675C>T (p.Thr1892Ile) c.5666C>T (p.Thr1889Ile) | |
| 12 | g.115975233G>C | CA386878292 | MED13L | c.5669C>G (p.Thr1890Arg) n.659C>G n.4037C>G n.5433C>G n.3854C>G n.3680C>G c.3853C>G c.2158C>G c.5705C>G (p.Thr1902Arg) c.282C>G c.5702C>G (p.Thr1901Arg) c.5675C>G (p.Thr1892Arg) c.5666C>G (p.Thr1889Arg) | |
| 12 | g.115975233G>T | CA386878293 | MED13L | c.5669C>A (p.Thr1890Lys) n.659C>A n.4037C>A n.5433C>A n.3854C>A n.3680C>A c.3853C>A c.2158C>A c.5705C>A (p.Thr1902Lys) c.282C>A c.5702C>A (p.Thr1901Lys) c.5675C>A (p.Thr1892Lys) c.5666C>A (p.Thr1889Lys) | |
| 12 | g.115975234T>A | CA386878297 | MED13L | c.5668A>T (p.Thr1890Ser) n.658A>T n.4036A>T n.5432A>T n.3853A>T n.3679A>T c.3852A>T c.2157A>T c.5704A>T (p.Thr1902Ser) c.281A>T c.5701A>T (p.Thr1901Ser) c.5674A>T (p.Thr1892Ser) c.5665A>T (p.Thr1889Ser) | |
| 12 | g.115975234T>C | CA386878313 | MED13L | c.5668A>G (p.Thr1890Ala) n.658A>G n.4036A>G n.5432A>G n.3853A>G n.3679A>G c.3852A>G c.2157A>G c.5704A>G (p.Thr1902Ala) c.281A>G c.5701A>G (p.Thr1901Ala) c.5674A>G (p.Thr1892Ala) c.5665A>G (p.Thr1889Ala) | |
| 12 | g.115975234T>G | CA386878295 | MED13L | c.5668A>C (p.Thr1890Pro) n.658A>C n.4036A>C n.5432A>C n.3853A>C n.3679A>C c.3852A>C c.2157A>C c.5704A>C (p.Thr1902Pro) c.281A>C c.5701A>C (p.Thr1901Pro) c.5674A>C (p.Thr1892Pro) c.5665A>C (p.Thr1889Pro) | |
| 12 | g.115975235C>A | CA386878319 | MED13L | c.5667G>T (p.Met1889Ile) n.657G>T n.4035G>T n.5431G>T n.3852G>T n.3678G>T c.3851G>T c.2156G>T c.5703G>T (p.Met1901Ile) c.280G>T c.5700G>T (p.Met1900Ile) c.5673G>T (p.Met1891Ile) c.5664G>T (p.Met1888Ile) | |
| 12 | g.115975235C>G | CA386878316 | MED13L | c.5667G>C (p.Met1889Ile) n.657G>C n.4035G>C n.5431G>C n.3852G>C n.3678G>C c.3851G>C c.2156G>C c.5703G>C (p.Met1901Ile) c.280G>C c.5700G>C (p.Met1900Ile) c.5673G>C (p.Met1891Ile) c.5664G>C (p.Met1888Ile) | |
| 12 | g.115975235C>T | CA386878317 | MED13L | c.5667G>A (p.Met1889Ile) n.657G>A n.4035G>A n.5431G>A n.3852G>A n.3678G>A c.3851G>A c.2156G>A c.5703G>A (p.Met1901Ile) c.280G>A c.5700G>A (p.Met1900Ile) c.5673G>A (p.Met1891Ile) c.5664G>A (p.Met1888Ile) | |
| 12 | g.115975236A>C | CA386878325 | MED13L | c.5666T>G (p.Met1889Arg) n.656T>G n.4034T>G n.5430T>G n.3851T>G n.3677T>G c.3850T>G c.2155T>G c.5702T>G (p.Met1901Arg) c.279T>G c.5699T>G (p.Met1900Arg) c.5672T>G (p.Met1891Arg) c.5663T>G (p.Met1888Arg) | |
| 12 | g.115975236A>G | CA386878326 | MED13L | c.5666T>C (p.Met1889Thr) n.656T>C n.4034T>C n.5430T>C n.3851T>C n.3677T>C c.3850T>C c.2155T>C c.5702T>C (p.Met1901Thr) c.279T>C c.5699T>C (p.Met1900Thr) c.5672T>C (p.Met1891Thr) c.5663T>C (p.Met1888Thr) | |
| 12 | g.115975236A>T | CA386878327 | MED13L | c.5666T>A (p.Met1889Lys) n.656T>A n.4034T>A n.5430T>A n.3851T>A n.3677T>A c.3850T>A c.2155T>A c.5702T>A (p.Met1901Lys) c.279T>A c.5699T>A (p.Met1900Lys) c.5672T>A (p.Met1891Lys) c.5663T>A (p.Met1888Lys) | |
| 12 | g.115975237T>A | CA386878329 | MED13L | c.5665A>T (p.Met1889Leu) n.655A>T n.4033A>T n.5429A>T n.3850A>T n.3676A>T c.3849A>T c.2154A>T c.5701A>T (p.Met1901Leu) c.278A>T c.5698A>T (p.Met1900Leu) c.5671A>T (p.Met1891Leu) c.5662A>T (p.Met1888Leu) | |
| 12 | g.115975237T>C | CA386878331 | MED13L | c.5665A>G (p.Met1889Val) n.655A>G n.4033A>G n.5429A>G n.3850A>G n.3676A>G c.3849A>G c.2154A>G c.5701A>G (p.Met1901Val) c.278A>G c.5698A>G (p.Met1900Val) c.5671A>G (p.Met1891Val) c.5662A>G (p.Met1888Val) | ClinVar gnomAD v4 |
| 12 | g.115975237T>G | CA386878333 | MED13L | c.5665A>C (p.Met1889Leu) n.655A>C n.4033A>C n.5429A>C n.3850A>C n.3676A>C c.3849A>C c.2154A>C c.5701A>C (p.Met1901Leu) c.278A>C c.5698A>C (p.Met1900Leu) c.5671A>C (p.Met1891Leu) c.5662A>C (p.Met1888Leu) | |
| 12 | g.115975238T>A | CA386878335 | MED13L | c.5664A>T (p.Gln1888His) n.654A>T n.4032A>T n.5428A>T n.3849A>T n.3675A>T c.3848A>T c.2153A>T c.5700A>T (p.Gln1900His) c.277A>T c.5697A>T (p.Gln1899His) c.5670A>T (p.Gln1890His) c.5661A>T (p.Gln1887His) | |
| 12 | g.115975238T>C | CA6810534 | MED13L | c.5664A>G (p.Gln1888=) n.654A>G n.4032A>G n.5428A>G n.3849A>G n.3675A>G c.3848A>G c.2153A>G c.5700A>G (p.Gln1900=) c.277A>G c.5697A>G (p.Gln1899=) c.5670A>G (p.Gln1890=) c.5661A>G (p.Gln1887=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.115975238T>G | CA386878340 | MED13L | c.5664A>C (p.Gln1888His) n.654A>C n.4032A>C n.5428A>C n.3849A>C n.3675A>C c.3848A>C c.2153A>C c.5700A>C (p.Gln1900His) c.277A>C c.5697A>C (p.Gln1899His) c.5670A>C (p.Gln1890His) c.5661A>C (p.Gln1887His) | |
| 12 | g.115975238T= | CA2065412904 | MED13L | c.5664A= (p.Gln1888=) n.654A= n.4032A= n.5428A= n.3849A= n.3675A= c.3848A= c.2153A= c.5700A= (p.Gln1900=) c.277A= c.5697A= (p.Gln1899=) c.5670A= (p.Gln1890=) c.5661A= (p.Gln1887=) | |
| 12 | g.115975239T>A | CA386878346 | MED13L | c.5663A>T (p.Gln1888Leu) n.653A>T n.4031A>T n.5427A>T n.3848A>T n.3674A>T c.3847A>T c.2152A>T c.5699A>T (p.Gln1900Leu) c.276A>T c.5696A>T (p.Gln1899Leu) c.5669A>T (p.Gln1890Leu) c.5660A>T (p.Gln1887Leu) | |
| 12 | g.115975239T>C | CA386878345 | MED13L | c.5663A>G (p.Gln1888Arg) n.653A>G n.4031A>G n.5427A>G n.3848A>G n.3674A>G c.3847A>G c.2152A>G c.5699A>G (p.Gln1900Arg) c.276A>G c.5696A>G (p.Gln1899Arg) c.5669A>G (p.Gln1890Arg) c.5660A>G (p.Gln1887Arg) | gnomAD v4 |
| 12 | g.115975239T>G | CA386878342 | MED13L | c.5663A>C (p.Gln1888Pro) n.653A>C n.4031A>C n.5427A>C n.3848A>C n.3674A>C c.3847A>C c.2152A>C c.5699A>C (p.Gln1900Pro) c.276A>C c.5696A>C (p.Gln1899Pro) c.5669A>C (p.Gln1890Pro) c.5660A>C (p.Gln1887Pro) | |
| 12 | g.115975240G>A | CA386878347 | MED13L | c.5662C>T (p.Gln1888Ter) n.652C>T n.4030C>T n.5426C>T n.3847C>T n.3673C>T c.3846C>T c.2151C>T c.5698C>T (p.Gln1900Ter) c.275C>T c.5695C>T (p.Gln1899Ter) c.5668C>T (p.Gln1890Ter) c.5659C>T (p.Gln1887Ter) | |
| 12 | g.115975240G>C | CA386878349 | MED13L | c.5662C>G (p.Gln1888Glu) n.652C>G n.4030C>G n.5426C>G n.3847C>G n.3673C>G c.3846C>G c.2151C>G c.5698C>G (p.Gln1900Glu) c.275C>G c.5695C>G (p.Gln1899Glu) c.5668C>G (p.Gln1890Glu) c.5659C>G (p.Gln1887Glu) | |
| 12 | g.115975240G>T | CA386878351 | MED13L | c.5662C>A (p.Gln1888Lys) n.652C>A n.4030C>A n.5426C>A n.3847C>A n.3673C>A c.3846C>A c.2151C>A c.5698C>A (p.Gln1900Lys) c.275C>A c.5695C>A (p.Gln1899Lys) c.5668C>A (p.Gln1890Lys) c.5659C>A (p.Gln1887Lys) | |
| 12 | g.115975241G>A | CA481944834 | MED13L | c.5661C>T (p.Val1887=) n.651C>T n.4029C>T n.5425C>T n.3846C>T n.3672C>T c.3845C>T c.2150C>T c.5697C>T (p.Val1899=) c.274C>T c.5694C>T (p.Val1898=) c.5667C>T (p.Val1889=) c.5658C>T (p.Val1886=) | |
| 12 | g.115975241G>C | CA481944835 | MED13L | c.5661C>G (p.Val1887=) n.651C>G n.4029C>G n.5425C>G n.3846C>G n.3672C>G c.3845C>G c.2150C>G c.5697C>G (p.Val1899=) c.274C>G c.5694C>G (p.Val1898=) c.5667C>G (p.Val1889=) c.5658C>G (p.Val1886=) | |
| 12 | g.115975241G>T | CA481944837 | MED13L | c.5661C>A (p.Val1887=) n.651C>A n.4029C>A n.5425C>A n.3846C>A n.3672C>A c.3845C>A c.2150C>A c.5697C>A (p.Val1899=) c.274C>A c.5694C>A (p.Val1898=) c.5667C>A (p.Val1889=) c.5658C>A (p.Val1886=) | |
| 12 | g.115975242A>C | CA386878353 | MED13L | c.5660T>G (p.Val1887Gly) n.650T>G n.4028T>G n.5424T>G n.3845T>G n.3671T>G c.3844T>G c.2149T>G c.5696T>G (p.Val1899Gly) c.273T>G c.5693T>G (p.Val1898Gly) c.5666T>G (p.Val1889Gly) c.5657T>G (p.Val1886Gly) | |
| 12 | g.115975242A>G | CA386878354 | MED13L | c.5660T>C (p.Val1887Ala) n.650T>C n.4028T>C n.5424T>C n.3845T>C n.3671T>C c.3844T>C c.2149T>C c.5696T>C (p.Val1899Ala) c.273T>C c.5693T>C (p.Val1898Ala) c.5666T>C (p.Val1889Ala) c.5657T>C (p.Val1886Ala) | |
| 12 | g.115975242A>T | CA386878356 | MED13L | c.5660T>A (p.Val1887Asp) n.650T>A n.4028T>A n.5424T>A n.3845T>A n.3671T>A c.3844T>A c.2149T>A c.5696T>A (p.Val1899Asp) c.273T>A c.5693T>A (p.Val1898Asp) c.5666T>A (p.Val1889Asp) c.5657T>A (p.Val1886Asp) | |
| 12 | g.115975243C>A | CA244136166 | MED13L | c.5659G>T (p.Val1887Phe) n.649G>T n.4027G>T n.5423G>T n.3844G>T n.3670G>T c.3843G>T c.2148G>T c.5695G>T (p.Val1899Phe) c.272G>T c.5692G>T (p.Val1898Phe) c.5665G>T (p.Val1889Phe) c.5656G>T (p.Val1886Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.115975243C= | CA2065412905 | MED13L | c.5659G= (p.Val1887=) n.649G= n.4027G= n.5423G= n.3844G= n.3670G= c.3843G= c.2148G= c.5695G= (p.Val1899=) c.272G= c.5692G= (p.Val1898=) c.5665G= (p.Val1889=) c.5656G= (p.Val1886=) | |
| 12 | g.115975243C>G | CA386878358 | MED13L | c.5659G>C (p.Val1887Leu) n.649G>C n.4027G>C n.5423G>C n.3844G>C n.3670G>C c.3843G>C c.2148G>C c.5695G>C (p.Val1899Leu) c.272G>C c.5692G>C (p.Val1898Leu) c.5665G>C (p.Val1889Leu) c.5656G>C (p.Val1886Leu) | |
| 12 | g.115975243C>T | CA386878360 | MED13L | c.5659G>A (p.Val1887Ile) n.649G>A n.4027G>A n.5423G>A n.3844G>A n.3670G>A c.3843G>A c.2148G>A c.5695G>A (p.Val1899Ile) c.272G>A c.5692G>A (p.Val1898Ile) c.5665G>A (p.Val1889Ile) c.5656G>A (p.Val1886Ile) | ClinVar dbSNP |
| 12 | g.115975244A= | CA2065412906 | MED13L | c.5658T= (p.Ile1886=) n.648T= n.4026T= n.5422T= n.3843T= n.3669T= c.3842T= c.2147T= c.5694T= (p.Ile1898=) c.271T= c.5691T= (p.Ile1897=) c.5664T= (p.Ile1888=) c.5655T= (p.Ile1885=) | |
| 12 | g.115975244A>C | CA386878362 | MED13L | c.5658T>G (p.Ile1886Met) n.648T>G n.4026T>G n.5422T>G n.3843T>G n.3669T>G c.3842T>G c.2147T>G c.5694T>G (p.Ile1898Met) c.271T>G c.5691T>G (p.Ile1897Met) c.5664T>G (p.Ile1888Met) c.5655T>G (p.Ile1885Met) | |
| 12 | g.115975244A>G | CA481944841 | MED13L | c.5658T>C (p.Ile1886=) n.648T>C n.4026T>C n.5422T>C n.3843T>C n.3669T>C c.3842T>C c.2147T>C c.5694T>C (p.Ile1898=) c.271T>C c.5691T>C (p.Ile1897=) c.5664T>C (p.Ile1888=) c.5655T>C (p.Ile1885=) | |
| 12 | g.115975244A>T | CA481944842 | MED13L | c.5658T>A (p.Ile1886=) n.648T>A n.4026T>A n.5422T>A n.3843T>A n.3669T>A c.3842T>A c.2147T>A c.5694T>A (p.Ile1898=) c.271T>A c.5691T>A (p.Ile1897=) c.5664T>A (p.Ile1888=) c.5655T>A (p.Ile1885=) | ClinVar dbSNP |
| 12 | g.115975245A>C | CA386878364 | MED13L | c.5657T>G (p.Ile1886Ser) n.647T>G n.4025T>G n.5421T>G n.3842T>G n.3668T>G c.3841T>G c.2146T>G c.5693T>G (p.Ile1898Ser) c.270T>G c.5690T>G (p.Ile1897Ser) c.5663T>G (p.Ile1888Ser) c.5654T>G (p.Ile1885Ser) | |
| 12 | g.115975245A>G | CA386878366 | MED13L | c.5657T>C (p.Ile1886Thr) n.647T>C n.4025T>C n.5421T>C n.3842T>C n.3668T>C c.3841T>C c.2146T>C c.5693T>C (p.Ile1898Thr) c.270T>C c.5690T>C (p.Ile1897Thr) c.5663T>C (p.Ile1888Thr) c.5654T>C (p.Ile1885Thr) | |
| 12 | g.115975245A>T | CA386878368 | MED13L | c.5657T>A (p.Ile1886Asn) n.647T>A n.4025T>A n.5421T>A n.3842T>A n.3668T>A c.3841T>A c.2146T>A c.5693T>A (p.Ile1898Asn) c.270T>A c.5690T>A (p.Ile1897Asn) c.5663T>A (p.Ile1888Asn) c.5654T>A (p.Ile1885Asn) | |
| 12 | g.115975246T>A | CA386878371 | MED13L | c.5656A>T (p.Ile1886Phe) n.646A>T n.4024A>T n.5420A>T n.3841A>T n.3667A>T c.3840A>T c.2145A>T c.5692A>T (p.Ile1898Phe) c.269A>T c.5689A>T (p.Ile1897Phe) c.5662A>T (p.Ile1888Phe) c.5653A>T (p.Ile1885Phe) | |
| 12 | g.115975246T>C | CA386878373 | MED13L | c.5656A>G (p.Ile1886Val) n.646A>G n.4024A>G n.5420A>G n.3841A>G n.3667A>G c.3840A>G c.2145A>G c.5692A>G (p.Ile1898Val) c.269A>G c.5689A>G (p.Ile1897Val) c.5662A>G (p.Ile1888Val) c.5653A>G (p.Ile1885Val) | gnomAD v4 |
| 12 | g.115975246T>G | CA6810535 | MED13L | c.5656A>C (p.Ile1886Leu) n.646A>C n.4024A>C n.5420A>C n.3841A>C n.3667A>C c.3840A>C c.2145A>C c.5692A>C (p.Ile1898Leu) c.269A>C c.5689A>C (p.Ile1897Leu) c.5662A>C (p.Ile1888Leu) c.5653A>C (p.Ile1885Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.115975246T= | CA2065412907 | MED13L | c.5656A= (p.Ile1886=) n.646A= n.4024A= n.5420A= n.3841A= n.3667A= c.3840A= c.2145A= c.5692A= (p.Ile1898=) c.269A= c.5689A= (p.Ile1897=) c.5662A= (p.Ile1888=) c.5653A= (p.Ile1885=) | |
| 12 | g.115975247C>A | CA481944845 | MED13L | c.5655G>T (p.Gly1885=) n.645G>T n.4023G>T n.5419G>T n.3840G>T n.3666G>T c.3839G>T c.2144G>T c.5691G>T (p.Gly1897=) c.268G>T c.5688G>T (p.Gly1896=) c.5661G>T (p.Gly1887=) c.5652G>T (p.Gly1884=) | |
| 12 | g.115975247C>G | CA481944846 | MED13L | c.5655G>C (p.Gly1885=) n.645G>C n.4023G>C n.5419G>C n.3840G>C n.3666G>C c.3839G>C c.2144G>C c.5691G>C (p.Gly1897=) c.268G>C c.5688G>C (p.Gly1896=) c.5661G>C (p.Gly1887=) c.5652G>C (p.Gly1884=) | |
| 12 | g.115975247C>T | CA481944847 | MED13L | c.5655G>A (p.Gly1885=) n.645G>A n.4023G>A n.5419G>A n.3840G>A n.3666G>A c.3839G>A c.2144G>A c.5691G>A (p.Gly1897=) c.268G>A c.5688G>A (p.Gly1896=) c.5661G>A (p.Gly1887=) c.5652G>A (p.Gly1884=) | |
| 12 | g.115975248C>A | CA386878374 | MED13L | c.5654G>T (p.Gly1885Val) n.644G>T n.4022G>T n.5418G>T n.3839G>T n.3665G>T c.3838G>T c.2143G>T c.5690G>T (p.Gly1897Val) c.267G>T c.5687G>T (p.Gly1896Val) c.5660G>T (p.Gly1887Val) c.5651G>T (p.Gly1884Val) | |
| 12 | g.115975248C>G | CA386878375 | MED13L | c.5654G>C (p.Gly1885Ala) n.644G>C n.4022G>C n.5418G>C n.3839G>C n.3665G>C c.3838G>C c.2143G>C c.5690G>C (p.Gly1897Ala) c.267G>C c.5687G>C (p.Gly1896Ala) c.5660G>C (p.Gly1887Ala) c.5651G>C (p.Gly1884Ala) | |
| 12 | g.115975248C>T | CA386878376 | MED13L | c.5654G>A (p.Gly1885Glu) n.644G>A n.4022G>A n.5418G>A n.3839G>A n.3665G>A c.3838G>A c.2143G>A c.5690G>A (p.Gly1897Glu) c.267G>A c.5687G>A (p.Gly1896Glu) c.5660G>A (p.Gly1887Glu) c.5651G>A (p.Gly1884Glu) | |
| 12 | g.115975249C>A | CA386878378 | MED13L | c.5653G>T (p.Gly1885Trp) n.643G>T n.4021G>T n.5417G>T n.3838G>T n.3664G>T c.3837G>T c.2142G>T c.5689G>T (p.Gly1897Trp) c.266G>T c.5686G>T (p.Gly1896Trp) c.5659G>T (p.Gly1887Trp) c.5650G>T (p.Gly1884Trp) | |
| 12 | g.115975249C>G | CA386878380 | MED13L | c.5653G>C (p.Gly1885Arg) n.643G>C n.4021G>C n.5417G>C n.3838G>C n.3664G>C c.3837G>C c.2142G>C c.5689G>C (p.Gly1897Arg) c.266G>C c.5686G>C (p.Gly1896Arg) c.5659G>C (p.Gly1887Arg) c.5650G>C (p.Gly1884Arg) | |
| 12 | g.115975249C>T | CA386878383 | MED13L | c.5653G>A (p.Gly1885Arg) n.643G>A n.4021G>A n.5417G>A n.3838G>A n.3664G>A c.3837G>A c.2142G>A c.5689G>A (p.Gly1897Arg) c.266G>A c.5686G>A (p.Gly1896Arg) c.5659G>A (p.Gly1887Arg) c.5650G>A (p.Gly1884Arg) | |
| 12 | g.115975250T>A | CA481944849 | MED13L | c.5652A>T (p.Ile1884=) n.642A>T n.4020A>T n.5416A>T n.3837A>T n.3663A>T c.3836A>T c.2141A>T c.5688A>T (p.Ile1896=) c.265A>T c.5685A>T (p.Ile1895=) c.5658A>T (p.Ile1886=) c.5649A>T (p.Ile1883=) | |
| 12 | g.115975250T>C | CA386878387 | MED13L | c.5652A>G (p.Ile1884Met) n.642A>G n.4020A>G n.5416A>G n.3837A>G n.3663A>G c.3836A>G c.2141A>G c.5688A>G (p.Ile1896Met) c.265A>G c.5685A>G (p.Ile1895Met) c.5658A>G (p.Ile1886Met) c.5649A>G (p.Ile1883Met) | |
| 12 | g.115975250T>G | CA481944850 | MED13L | c.5652A>C (p.Ile1884=) n.642A>C n.4020A>C n.5416A>C n.3837A>C n.3663A>C c.3836A>C c.2141A>C c.5688A>C (p.Ile1896=) c.265A>C c.5685A>C (p.Ile1895=) c.5658A>C (p.Ile1886=) c.5649A>C (p.Ile1883=) | |
| 12 | g.115975251A>C | CA386878389 | MED13L | c.5651T>G (p.Ile1884Arg) n.641T>G n.4019T>G n.5415T>G n.3836T>G n.3662T>G c.3835T>G c.2140T>G c.5687T>G (p.Ile1896Arg) c.264T>G c.5684T>G (p.Ile1895Arg) c.5657T>G (p.Ile1886Arg) c.5648T>G (p.Ile1883Arg) | gnomAD v4 |
| 12 | g.115975251A>G | CA386878390 | MED13L | c.5651T>C (p.Ile1884Thr) n.641T>C n.4019T>C n.5415T>C n.3836T>C n.3662T>C c.3835T>C c.2140T>C c.5687T>C (p.Ile1896Thr) c.264T>C c.5684T>C (p.Ile1895Thr) c.5657T>C (p.Ile1886Thr) c.5648T>C (p.Ile1883Thr) | ClinVar |
| 12 | g.115975251A>T | CA386878391 | MED13L | c.5651T>A (p.Ile1884Lys) n.641T>A n.4019T>A n.5415T>A n.3836T>A n.3662T>A c.3835T>A c.2140T>A c.5687T>A (p.Ile1896Lys) c.264T>A c.5684T>A (p.Ile1895Lys) c.5657T>A (p.Ile1886Lys) c.5648T>A (p.Ile1883Lys) | |
| 12 | g.115975252T>A | CA386878392 | MED13L | c.5650A>T (p.Ile1884Leu) n.640A>T n.4018A>T n.5414A>T n.3835A>T n.3661A>T c.3834A>T c.2139A>T c.5686A>T (p.Ile1896Leu) c.263A>T c.5683A>T (p.Ile1895Leu) c.5656A>T (p.Ile1886Leu) c.5647A>T (p.Ile1883Leu) | |
| 12 | g.115975252T>C | CA6810536 | MED13L | c.5650A>G (p.Ile1884Val) n.640A>G n.4018A>G n.5414A>G n.3835A>G n.3661A>G c.3834A>G c.2139A>G c.5686A>G (p.Ile1896Val) c.263A>G c.5683A>G (p.Ile1895Val) c.5656A>G (p.Ile1886Val) c.5647A>G (p.Ile1883Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.115975252T>G | CA386878393 | MED13L | c.5650A>C (p.Ile1884Leu) n.640A>C n.4018A>C n.5414A>C n.3835A>C n.3661A>C c.3834A>C c.2139A>C c.5686A>C (p.Ile1896Leu) c.263A>C c.5683A>C (p.Ile1895Leu) c.5656A>C (p.Ile1886Leu) c.5647A>C (p.Ile1883Leu) | ClinVar |
| 12 | g.115975252T= | CA2065412908 | MED13L | c.5650A= (p.Ile1884=) n.640A= n.4018A= n.5414A= n.3835A= n.3661A= c.3834A= c.2139A= c.5686A= (p.Ile1896=) c.263A= c.5683A= (p.Ile1895=) c.5656A= (p.Ile1886=) c.5647A= (p.Ile1883=) | |
| 12 | g.115975253G>A | CA481944851 | MED13L | c.5649C>T (p.Cys1883=) n.639C>T n.4017C>T n.5413C>T n.3834C>T n.3660C>T c.3833C>T c.2138C>T c.5685C>T (p.Cys1895=) c.262C>T c.5682C>T (p.Cys1894=) c.5655C>T (p.Cys1885=) c.5646C>T (p.Cys1882=) | |
| 12 | g.115975253G>C | CA386878401 | MED13L | c.5649C>G (p.Cys1883Trp) n.639C>G n.4017C>G n.5413C>G n.3834C>G n.3660C>G c.3833C>G c.2138C>G c.5685C>G (p.Cys1895Trp) c.262C>G c.5682C>G (p.Cys1894Trp) c.5655C>G (p.Cys1885Trp) c.5646C>G (p.Cys1882Trp) | |
| 12 | g.115975253G>T | CA386878396 | MED13L | c.5649C>A (p.Cys1883Ter) n.639C>A n.4017C>A n.5413C>A n.3834C>A n.3660C>A c.3833C>A c.2138C>A c.5685C>A (p.Cys1895Ter) c.262C>A c.5682C>A (p.Cys1894Ter) c.5655C>A (p.Cys1885Ter) c.5646C>A (p.Cys1882Ter) | |
| 12 | g.115975254C>A | CA386878404 | MED13L | c.5648G>T (p.Cys1883Phe) n.638G>T n.4016G>T n.5412G>T n.3833G>T n.3659G>T c.3832G>T c.2137G>T c.5684G>T (p.Cys1895Phe) c.261G>T c.5681G>T (p.Cys1894Phe) c.5654G>T (p.Cys1885Phe) c.5645G>T (p.Cys1882Phe) | |
| 12 | g.115975254C>G | CA386878406 | MED13L | c.5648G>C (p.Cys1883Ser) n.638G>C n.4016G>C n.5412G>C n.3833G>C n.3659G>C c.3832G>C c.2137G>C c.5684G>C (p.Cys1895Ser) c.261G>C c.5681G>C (p.Cys1894Ser) c.5654G>C (p.Cys1885Ser) c.5645G>C (p.Cys1882Ser) | |
| 12 | g.115975254C>T | CA386878408 | MED13L | c.5648G>A (p.Cys1883Tyr) n.638G>A n.4016G>A n.5412G>A n.3833G>A n.3659G>A c.3832G>A c.2137G>A c.5684G>A (p.Cys1895Tyr) c.261G>A c.5681G>A (p.Cys1894Tyr) c.5654G>A (p.Cys1885Tyr) c.5645G>A (p.Cys1882Tyr) | |
| 12 | g.115975255A>C | CA386878410 | MED13L | c.5647T>G (p.Cys1883Gly) n.637T>G n.4015T>G n.5411T>G n.3832T>G n.3658T>G c.3831T>G c.2136T>G c.5683T>G (p.Cys1895Gly) c.260T>G c.5680T>G (p.Cys1894Gly) c.5653T>G (p.Cys1885Gly) c.5644T>G (p.Cys1882Gly) | |
| 12 | g.115975255A>G | CA386878412 | MED13L | c.5647T>C (p.Cys1883Arg) n.637T>C n.4015T>C n.5411T>C n.3832T>C n.3658T>C c.3831T>C c.2136T>C c.5683T>C (p.Cys1895Arg) c.260T>C c.5680T>C (p.Cys1894Arg) c.5653T>C (p.Cys1885Arg) c.5644T>C (p.Cys1882Arg) | |
| 12 | g.115975255A>T | CA386878416 | MED13L | c.5647T>A (p.Cys1883Ser) n.637T>A n.4015T>A n.5411T>A n.3832T>A n.3658T>A c.3831T>A c.2136T>A c.5683T>A (p.Cys1895Ser) c.260T>A c.5680T>A (p.Cys1894Ser) c.5653T>A (p.Cys1885Ser) c.5644T>A (p.Cys1882Ser) | |
| 12 | g.115975256C>A | CA386878427 | MED13L | c.5646G>T (p.Trp1882Cys) n.636G>T n.4014G>T n.5410G>T n.3831G>T n.3657G>T c.3830G>T c.2135G>T c.5682G>T (p.Trp1894Cys) c.259G>T c.5679G>T (p.Trp1893Cys) c.5652G>T (p.Trp1884Cys) c.5643G>T (p.Trp1881Cys) | |
| 12 | g.115975256C>G | CA386878419 | MED13L | c.5646G>C (p.Trp1882Cys) n.636G>C n.4014G>C n.5410G>C n.3831G>C n.3657G>C c.3830G>C c.2135G>C c.5682G>C (p.Trp1894Cys) c.259G>C c.5679G>C (p.Trp1893Cys) c.5652G>C (p.Trp1884Cys) c.5643G>C (p.Trp1881Cys) | |
| 12 | g.115975256C>T | CA386878422 | MED13L | c.5646G>A (p.Trp1882Ter) n.636G>A n.4014G>A n.5410G>A n.3831G>A n.3657G>A c.3830G>A c.2135G>A c.5682G>A (p.Trp1894Ter) c.259G>A c.5679G>A (p.Trp1893Ter) c.5652G>A (p.Trp1884Ter) c.5643G>A (p.Trp1881Ter) | |
| 12 | g.115975257C>A | CA386878430 | MED13L | c.5645G>T (p.Trp1882Leu) n.635G>T n.4013G>T n.5409G>T n.3830G>T n.3656G>T c.3829G>T c.2134G>T c.5681G>T (p.Trp1894Leu) c.258G>T c.5678G>T (p.Trp1893Leu) c.5651G>T (p.Trp1884Leu) c.5642G>T (p.Trp1881Leu) | |
| 12 | g.115975257C>G | CA386878432 | MED13L | c.5645G>C (p.Trp1882Ser) n.635G>C n.4013G>C n.5409G>C n.3830G>C n.3656G>C c.3829G>C c.2134G>C c.5681G>C (p.Trp1894Ser) c.258G>C c.5678G>C (p.Trp1893Ser) c.5651G>C (p.Trp1884Ser) c.5642G>C (p.Trp1881Ser) | |
| 12 | g.115975257C>T | CA386878437 | MED13L | c.5645G>A (p.Trp1882Ter) n.635G>A n.4013G>A n.5409G>A n.3830G>A n.3656G>A c.3829G>A c.2134G>A c.5681G>A (p.Trp1894Ter) c.258G>A c.5678G>A (p.Trp1893Ter) c.5651G>A (p.Trp1884Ter) c.5642G>A (p.Trp1881Ter) | |
| 12 | g.115975258A>C | CA386878443 | MED13L | c.5644T>G (p.Trp1882Gly) n.634T>G n.4012T>G n.5408T>G n.3829T>G n.3655T>G c.3828T>G c.2133T>G c.5680T>G (p.Trp1894Gly) c.257T>G c.5677T>G (p.Trp1893Gly) c.5650T>G (p.Trp1884Gly) c.5641T>G (p.Trp1881Gly) | |
| 12 | g.115975258A>G | CA386878447 | MED13L | c.5644T>C (p.Trp1882Arg) n.634T>C n.4012T>C n.5408T>C n.3829T>C n.3655T>C c.3828T>C c.2133T>C c.5680T>C (p.Trp1894Arg) c.257T>C c.5677T>C (p.Trp1893Arg) c.5650T>C (p.Trp1884Arg) c.5641T>C (p.Trp1881Arg) | gnomAD v4 |
| 12 | g.115975258A>T | CA386878450 | MED13L | c.5644T>A (p.Trp1882Arg) n.634T>A n.4012T>A n.5408T>A n.3829T>A n.3655T>A c.3828T>A c.2133T>A c.5680T>A (p.Trp1894Arg) c.257T>A c.5677T>A (p.Trp1893Arg) c.5650T>A (p.Trp1884Arg) c.5641T>A (p.Trp1881Arg) | |
| 12 | g.115975259C>A | CA386878454 | MED13L | c.5643G>T (p.Glu1881Asp) n.633G>T n.4011G>T n.5407G>T n.3828G>T n.3654G>T c.3827G>T c.2132G>T c.5679G>T (p.Glu1893Asp) c.256G>T c.5676G>T (p.Glu1892Asp) c.5649G>T (p.Glu1883Asp) c.5640G>T (p.Glu1880Asp) | |
| 12 | g.115975259C>G | CA386878452 | MED13L | c.5643G>C (p.Glu1881Asp) n.633G>C n.4011G>C n.5407G>C n.3828G>C n.3654G>C c.3827G>C c.2132G>C c.5679G>C (p.Glu1893Asp) c.256G>C c.5676G>C (p.Glu1892Asp) c.5649G>C (p.Glu1883Asp) c.5640G>C (p.Glu1880Asp) | |
| 12 | g.115975259C>T | CA481944852 | MED13L | c.5643G>A (p.Glu1881=) n.633G>A n.4011G>A n.5407G>A n.3828G>A n.3654G>A c.3827G>A c.2132G>A c.5679G>A (p.Glu1893=) c.256G>A c.5676G>A (p.Glu1892=) c.5649G>A (p.Glu1883=) c.5640G>A (p.Glu1880=) | gnomAD v4 |
| 12 | g.115975260T>A | CA386878458 | MED13L | c.5642A>T (p.Glu1881Val) n.632A>T n.4010A>T n.5406A>T n.3827A>T n.3653A>T c.3826A>T c.2131A>T c.5678A>T (p.Glu1893Val) c.255A>T c.5675A>T (p.Glu1892Val) c.5648A>T (p.Glu1883Val) c.5639A>T (p.Glu1880Val) | |
| 12 | g.115975260T>C | CA386878461 | MED13L | c.5642A>G (p.Glu1881Gly) n.632A>G n.4010A>G n.5406A>G n.3827A>G n.3653A>G c.3826A>G c.2131A>G c.5678A>G (p.Glu1893Gly) c.255A>G c.5675A>G (p.Glu1892Gly) c.5648A>G (p.Glu1883Gly) c.5639A>G (p.Glu1880Gly) | |
| 12 | g.115975260T>G | CA386878459 | MED13L | c.5642A>C (p.Glu1881Ala) n.632A>C n.4010A>C n.5406A>C n.3827A>C n.3653A>C c.3826A>C c.2131A>C c.5678A>C (p.Glu1893Ala) c.255A>C c.5675A>C (p.Glu1892Ala) c.5648A>C (p.Glu1883Ala) c.5639A>C (p.Glu1880Ala) | |
| 12 | g.115975261C>A | CA386878465 | MED13L | c.5641G>T (p.Glu1881Ter) n.631G>T n.4009G>T n.5405G>T n.3826G>T n.3652G>T c.3825G>T c.2130G>T c.5677G>T (p.Glu1893Ter) c.254G>T c.5674G>T (p.Glu1892Ter) c.5647G>T (p.Glu1883Ter) c.5638G>T (p.Glu1880Ter) | |
| 12 | g.115975261C= | CA2065412909 | MED13L | c.5641G= (p.Glu1881=) n.631G= n.4009G= n.5405G= n.3826G= n.3652G= c.3825G= c.2130G= c.5677G= (p.Glu1893=) c.254G= c.5674G= (p.Glu1892=) c.5647G= (p.Glu1883=) c.5638G= (p.Glu1880=) | |
| 12 | g.115975261C>G | CA386878471 | MED13L | c.5641G>C (p.Glu1881Gln) n.631G>C n.4009G>C n.5405G>C n.3826G>C n.3652G>C c.3825G>C c.2130G>C c.5677G>C (p.Glu1893Gln) c.254G>C c.5674G>C (p.Glu1892Gln) c.5647G>C (p.Glu1883Gln) c.5638G>C (p.Glu1880Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.115975261C>T | CA386878467 | MED13L | c.5641G>A (p.Glu1881Lys) n.631G>A n.4009G>A n.5405G>A n.3826G>A n.3652G>A c.3825G>A c.2130G>A c.5677G>A (p.Glu1893Lys) c.254G>A c.5674G>A (p.Glu1892Lys) c.5647G>A (p.Glu1883Lys) c.5638G>A (p.Glu1880Lys) | |
| 12 | g.115975262C>A | CA386878473 | MED13L | c.5640G>T (p.Trp1880Cys) n.630G>T n.4008G>T n.5404G>T n.3825G>T n.3651G>T c.3824G>T c.2129G>T c.5676G>T (p.Trp1892Cys) c.253G>T c.5673G>T (p.Trp1891Cys) c.5646G>T (p.Trp1882Cys) c.5637G>T (p.Trp1879Cys) | |
| 12 | g.115975262C>G | CA386878475 | MED13L | c.5640G>C (p.Trp1880Cys) n.630G>C n.4008G>C n.5404G>C n.3825G>C n.3651G>C c.3824G>C c.2129G>C c.5676G>C (p.Trp1892Cys) c.253G>C c.5673G>C (p.Trp1891Cys) c.5646G>C (p.Trp1882Cys) c.5637G>C (p.Trp1879Cys) | |
| 12 | g.115975262C>T | CA386878474 | MED13L | c.5640G>A (p.Trp1880Ter) n.630G>A n.4008G>A n.5404G>A n.3825G>A n.3651G>A c.3824G>A c.2129G>A c.5676G>A (p.Trp1892Ter) c.253G>A c.5673G>A (p.Trp1891Ter) c.5646G>A (p.Trp1882Ter) c.5637G>A (p.Trp1879Ter) | |
| 12 | g.115975263C>A | CA386878477 | MED13L | c.5639G>T (p.Trp1880Leu) n.629G>T n.4007G>T n.5403G>T n.3824G>T n.3650G>T c.3823G>T c.2128G>T c.5675G>T (p.Trp1892Leu) c.252G>T c.5672G>T (p.Trp1891Leu) c.5645G>T (p.Trp1882Leu) c.5636G>T (p.Trp1879Leu) | |
| 12 | g.115975263C>G | CA386878481 | MED13L | c.5639G>C (p.Trp1880Ser) n.629G>C n.4007G>C n.5403G>C n.3824G>C n.3650G>C c.3823G>C c.2128G>C c.5675G>C (p.Trp1892Ser) c.252G>C c.5672G>C (p.Trp1891Ser) c.5645G>C (p.Trp1882Ser) c.5636G>C (p.Trp1879Ser) | |
| 12 | g.115975263C>T | CA386878479 | MED13L | c.5639G>A (p.Trp1880Ter) n.629G>A n.4007G>A n.5403G>A n.3824G>A n.3650G>A c.3823G>A c.2128G>A c.5675G>A (p.Trp1892Ter) c.252G>A c.5672G>A (p.Trp1891Ter) c.5645G>A (p.Trp1882Ter) c.5636G>A (p.Trp1879Ter) | |
| 12 | g.115975264A>C | CA386878484 | MED13L | c.5638T>G (p.Trp1880Gly) n.628T>G n.4006T>G n.5402T>G n.3823T>G n.3649T>G c.3822T>G c.2127T>G c.5674T>G (p.Trp1892Gly) c.251T>G c.5671T>G (p.Trp1891Gly) c.5644T>G (p.Trp1882Gly) c.5635T>G (p.Trp1879Gly) | |
| 12 | g.115975264A>G | CA386878488 | MED13L | c.5638T>C (p.Trp1880Arg) n.628T>C n.4006T>C n.5402T>C n.3823T>C n.3649T>C c.3822T>C c.2127T>C c.5674T>C (p.Trp1892Arg) c.251T>C c.5671T>C (p.Trp1891Arg) c.5644T>C (p.Trp1882Arg) c.5635T>C (p.Trp1879Arg) | |
| 12 | g.115975264A>T | CA386878486 | MED13L | c.5638T>A (p.Trp1880Arg) n.628T>A n.4006T>A n.5402T>A n.3823T>A n.3649T>A c.3822T>A c.2127T>A c.5674T>A (p.Trp1892Arg) c.251T>A c.5671T>A (p.Trp1891Arg) c.5644T>A (p.Trp1882Arg) c.5635T>A (p.Trp1879Arg) | |
| 12 | g.115975265T>A | CA386878490 | MED13L | c.5637A>T (p.Leu1879Phe) n.627A>T n.4005A>T n.5401A>T n.3822A>T n.3648A>T c.3821A>T c.2126A>T c.5673A>T (p.Leu1891Phe) c.250A>T c.5670A>T (p.Leu1890Phe) c.5643A>T (p.Leu1881Phe) c.5634A>T (p.Leu1878Phe) | |
| 12 | g.115975265T>C | CA481944853 | MED13L | c.5637A>G (p.Leu1879=) n.627A>G n.4005A>G n.5401A>G n.3822A>G n.3648A>G c.3821A>G c.2126A>G c.5673A>G (p.Leu1891=) c.250A>G c.5670A>G (p.Leu1890=) c.5643A>G (p.Leu1881=) c.5634A>G (p.Leu1878=) | |
| 12 | g.115975265T>G | CA386878493 | MED13L | c.5637A>C (p.Leu1879Phe) n.627A>C n.4005A>C n.5401A>C n.3822A>C n.3648A>C c.3821A>C c.2126A>C c.5673A>C (p.Leu1891Phe) c.250A>C c.5670A>C (p.Leu1890Phe) c.5643A>C (p.Leu1881Phe) c.5634A>C (p.Leu1878Phe) | |
| 12 | g.115975266A>C | CA386878497 | MED13L | c.5636T>G (p.Leu1879Ter) n.626T>G n.4004T>G n.5400T>G n.3821T>G n.3647T>G c.3820T>G c.2125T>G c.5672T>G (p.Leu1891Ter) c.249T>G c.5669T>G (p.Leu1890Ter) c.5642T>G (p.Leu1881Ter) c.5633T>G (p.Leu1878Ter) | |
| 12 | g.115975266A>G | CA386878499 | MED13L | c.5636T>C (p.Leu1879Ser) n.626T>C n.4004T>C n.5400T>C n.3821T>C n.3647T>C c.3820T>C c.2125T>C c.5672T>C (p.Leu1891Ser) c.249T>C c.5669T>C (p.Leu1890Ser) c.5642T>C (p.Leu1881Ser) c.5633T>C (p.Leu1878Ser) | |
| 12 | g.115975266A>T | CA386878501 | MED13L | c.5636T>A (p.Leu1879Ter) n.626T>A n.4004T>A n.5400T>A n.3821T>A n.3647T>A c.3820T>A c.2125T>A c.5672T>A (p.Leu1891Ter) c.249T>A c.5669T>A (p.Leu1890Ter) c.5642T>A (p.Leu1881Ter) c.5633T>A (p.Leu1878Ter) | |
| 12 | g.115975267A>C | CA386878504 | MED13L | c.5635T>G (p.Leu1879Val) n.625T>G n.4003T>G n.5399T>G n.3820T>G n.3646T>G c.3819T>G c.2124T>G c.5671T>G (p.Leu1891Val) c.248T>G c.5668T>G (p.Leu1890Val) c.5641T>G (p.Leu1881Val) c.5632T>G (p.Leu1878Val) | COSMIC |
| 12 | g.115975267A>G | CA481944854 | MED13L | c.5635T>C (p.Leu1879=) n.625T>C n.4003T>C n.5399T>C n.3820T>C n.3646T>C c.3819T>C c.2124T>C c.5671T>C (p.Leu1891=) c.248T>C c.5668T>C (p.Leu1890=) c.5641T>C (p.Leu1881=) c.5632T>C (p.Leu1878=) | |
| 12 | g.115975267A>T | CA386878507 | MED13L | c.5635T>A (p.Leu1879Ile) n.625T>A n.4003T>A n.5399T>A n.3820T>A n.3646T>A c.3819T>A c.2124T>A c.5671T>A (p.Leu1891Ile) c.248T>A c.5668T>A (p.Leu1890Ile) c.5641T>A (p.Leu1881Ile) c.5632T>A (p.Leu1878Ile) | |
| 12 | g.115975268C>A | CA386878509 | MED13L | c.5634G>T (p.Lys1878Asn) n.624G>T n.4002G>T n.5398G>T n.3819G>T n.3645G>T c.3818G>T c.2123G>T c.5670G>T (p.Lys1890Asn) c.247G>T c.5667G>T (p.Lys1889Asn) c.5640G>T (p.Lys1880Asn) c.5631G>T (p.Lys1877Asn) | |
| 12 | g.115975268C= | CA2065412910 | MED13L | c.5634G= (p.Lys1878=) n.624G= n.4002G= n.5398G= n.3819G= n.3645G= c.3818G= c.2123G= c.5670G= (p.Lys1890=) c.247G= c.5667G= (p.Lys1889=) c.5640G= (p.Lys1880=) c.5631G= (p.Lys1877=) | |
| 12 | g.115975268C>G | CA386878511 | MED13L | c.5634G>C (p.Lys1878Asn) n.624G>C n.4002G>C n.5398G>C n.3819G>C n.3645G>C c.3818G>C c.2123G>C c.5670G>C (p.Lys1890Asn) c.247G>C c.5667G>C (p.Lys1889Asn) c.5640G>C (p.Lys1880Asn) c.5631G>C (p.Lys1877Asn) | |
| 12 | g.115975268C>T | CA6810537 | MED13L | c.5634G>A (p.Lys1878=) n.624G>A n.4002G>A n.5398G>A n.3819G>A n.3645G>A c.3818G>A c.2123G>A c.5670G>A (p.Lys1890=) c.247G>A c.5667G>A (p.Lys1889=) c.5640G>A (p.Lys1880=) c.5631G>A (p.Lys1877=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.115975268_115975276delinsCTTCTGTAG | CA2065412911 | MED13L | c.5626_5634delinsCTACAGAAG (p.Leu1876=) n.616_624delinsCTACAGAAG n.3994_4002delinsCTACAGAAG n.5390_5398delinsCTACAGAAG n.3811_3819delinsCTACAGAAG n.3637_3645delinsCTACAGAAG c.3810_3818delinsCTACAGAAG c.2115_2123delinsCTACAGAAG c.5662_5670delinsCTACAGAAG (p.Leu1888=) c.239_247delinsCTACAGAAG c.5659_5667delinsCTACAGAAG (p.Leu1887=) c.5632_5640delinsCTACAGAAG (p.Leu1878=) c.5623_5631delinsCTACAGAAG (p.Leu1875=) | |
| 12 | g.115975269T>A | CA386878515 | MED13L | c.5633A>T (p.Lys1878Met) n.623A>T n.4001A>T n.5397A>T n.3818A>T n.3644A>T c.3817A>T c.2122A>T c.5669A>T (p.Lys1890Met) c.246A>T c.5666A>T (p.Lys1889Met) c.5639A>T (p.Lys1880Met) c.5630A>T (p.Lys1877Met) | |
| 12 | g.115975269T>C | CA386878516 | MED13L | c.5633A>G (p.Lys1878Arg) n.623A>G n.4001A>G n.5397A>G n.3818A>G n.3644A>G c.3817A>G c.2122A>G c.5669A>G (p.Lys1890Arg) c.246A>G c.5666A>G (p.Lys1889Arg) c.5639A>G (p.Lys1880Arg) c.5630A>G (p.Lys1877Arg) | |
| 12 | g.115975269T>G | CA386878517 | MED13L | c.5633A>C (p.Lys1878Thr) n.623A>C n.4001A>C n.5397A>C n.3818A>C n.3644A>C c.3817A>C c.2122A>C c.5669A>C (p.Lys1890Thr) c.246A>C c.5666A>C (p.Lys1889Thr) c.5639A>C (p.Lys1880Thr) c.5630A>C (p.Lys1877Thr) | |
| 12 | g.115975270_115975277del | CA1139662897 | MED13L | c.5626_5633del (p.Leu1876ValfsTer?) n.616_623del n.3994_4001del n.5390_5397del n.3811_3818del n.3637_3644del c.3810_3817del c.2115_2122del c.5662_5669del (p.Leu1888ValfsTer?) c.239_246del c.5659_5666del (p.Leu1887ValfsTer?) c.5632_5639del (p.Leu1878ValfsTer?) c.5623_5630del (p.Leu1875ValfsTer?) | ClinVar dbSNP |
| 12 | g.115975270T>A | CA386878521 | MED13L | c.5632A>T (p.Lys1878Ter) n.622A>T n.4000A>T n.5396A>T n.3817A>T n.3643A>T c.3816A>T c.2121A>T c.5668A>T (p.Lys1890Ter) c.245A>T c.5665A>T (p.Lys1889Ter) c.5638A>T (p.Lys1880Ter) c.5629A>T (p.Lys1877Ter) | |
| 12 | g.115975270T>C | CA386878518 | MED13L | c.5632A>G (p.Lys1878Glu) n.622A>G n.4000A>G n.5396A>G n.3817A>G n.3643A>G c.3816A>G c.2121A>G c.5668A>G (p.Lys1890Glu) c.245A>G c.5665A>G (p.Lys1889Glu) c.5638A>G (p.Lys1880Glu) c.5629A>G (p.Lys1877Glu) | |
| 12 | g.115975270T>G | CA386878519 | MED13L | c.5632A>C (p.Lys1878Gln) n.622A>C n.4000A>C n.5396A>C n.3817A>C n.3643A>C c.3816A>C c.2121A>C c.5668A>C (p.Lys1890Gln) c.245A>C c.5665A>C (p.Lys1889Gln) c.5638A>C (p.Lys1880Gln) c.5629A>C (p.Lys1877Gln) | |
| 12 | g.115975271C>A | CA386878524 | MED13L | c.5631G>T (p.Gln1877His) n.621G>T n.3999G>T n.5395G>T n.3816G>T n.3642G>T c.3815G>T c.2120G>T c.5667G>T (p.Gln1889His) c.244G>T c.5664G>T (p.Gln1888His) c.5637G>T (p.Gln1879His) c.5628G>T (p.Gln1876His) | ClinVar dbSNP |
| 12 | g.115975271C= | CA2065412913 | MED13L | c.5631G= (p.Gln1877=) n.621G= n.3999G= n.5395G= n.3816G= n.3642G= c.3815G= c.2120G= c.5667G= (p.Gln1889=) c.244G= c.5664G= (p.Gln1888=) c.5637G= (p.Gln1879=) c.5628G= (p.Gln1876=) | |
| 12 | g.115975271C>G | CA386878527 | MED13L | c.5631G>C (p.Gln1877His) n.621G>C n.3999G>C n.5395G>C n.3816G>C n.3642G>C c.3815G>C c.2120G>C c.5667G>C (p.Gln1889His) c.244G>C c.5664G>C (p.Gln1888His) c.5637G>C (p.Gln1879His) c.5628G>C (p.Gln1876His) | |
| 12 | g.115975271C>T | CA481944855 | MED13L | c.5631G>A (p.Gln1877=) n.621G>A n.3999G>A n.5395G>A n.3816G>A n.3642G>A c.3815G>A c.2120G>A c.5667G>A (p.Gln1889=) c.244G>A c.5664G>A (p.Gln1888=) c.5637G>A (p.Gln1879=) c.5628G>A (p.Gln1876=) | |
| 12 | g.115975271_115975277delinsCTGTAGT | CA2065412912 | MED13L | c.5625_5631delinsACTACAG (p.Gly1875=) n.615_621delinsACTACAG n.3993_3999delinsACTACAG n.5389_5395delinsACTACAG n.3810_3816delinsACTACAG n.3636_3642delinsACTACAG c.3809_3815delinsACTACAG c.2114_2120delinsACTACAG c.5661_5667delinsACTACAG (p.Gly1887=) c.238_244delinsACTACAG c.5658_5664delinsACTACAG (p.Gly1886=) c.5631_5637delinsACTACAG (p.Gly1877=) c.5622_5628delinsACTACAG (p.Gly1874=) | |
| 12 | g.115975272T>A | CA386878529 | MED13L | c.5630A>T (p.Gln1877Leu) n.620A>T n.3998A>T n.5394A>T n.3815A>T n.3641A>T c.3814A>T c.2119A>T c.5666A>T (p.Gln1889Leu) c.243A>T c.5663A>T (p.Gln1888Leu) c.5636A>T (p.Gln1879Leu) c.5627A>T (p.Gln1876Leu) | |
| 12 | g.115975272T>C | CA6810538 | MED13L | c.5630A>G (p.Gln1877Arg) n.620A>G n.3998A>G n.5394A>G n.3815A>G n.3641A>G c.3814A>G c.2119A>G c.5666A>G (p.Gln1889Arg) c.243A>G c.5663A>G (p.Gln1888Arg) c.5636A>G (p.Gln1879Arg) c.5627A>G (p.Gln1876Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.115975272T>G | CA386878531 | MED13L | c.5630A>C (p.Gln1877Pro) n.620A>C n.3998A>C n.5394A>C n.3815A>C n.3641A>C c.3814A>C c.2119A>C c.5666A>C (p.Gln1889Pro) c.243A>C c.5663A>C (p.Gln1888Pro) c.5636A>C (p.Gln1879Pro) c.5627A>C (p.Gln1876Pro) | |
| 12 | g.115975272T= | CA2065412914 | MED13L | c.5630A= (p.Gln1877=) n.620A= n.3998A= n.5394A= n.3815A= n.3641A= c.3814A= c.2119A= c.5666A= (p.Gln1889=) c.243A= c.5663A= (p.Gln1888=) c.5636A= (p.Gln1879=) c.5627A= (p.Gln1876=) | |
| 12 | g.115975272_115975277del | CA1139662898 | MED13L | c.5625_5630del (p.Leu1876_Gln1877del) n.615_620del n.3993_3998del n.5389_5394del n.3810_3815del n.3636_3641del c.3809_3814del c.2114_2119del c.5661_5666del (p.Leu1888_Gln1889del) c.238_243del c.5658_5663del (p.Leu1887_Gln1888del) c.5631_5636del (p.Leu1878_Gln1879del) c.5622_5627del (p.Leu1875_Gln1876del) | ClinVar dbSNP |
| 12 | g.115975273G>A | CA386878534 | MED13L | c.5629C>T (p.Gln1877Ter) n.619C>T n.3997C>T n.5393C>T n.3814C>T n.3640C>T c.3813C>T c.2118C>T c.5665C>T (p.Gln1889Ter) c.242C>T c.5662C>T (p.Gln1888Ter) c.5635C>T (p.Gln1879Ter) c.5626C>T (p.Gln1876Ter) | |
| 12 | g.115975273G>C | CA386878535 | MED13L | c.5629C>G (p.Gln1877Glu) n.619C>G n.3997C>G n.5393C>G n.3814C>G n.3640C>G c.3813C>G c.2118C>G c.5665C>G (p.Gln1889Glu) c.242C>G c.5662C>G (p.Gln1888Glu) c.5635C>G (p.Gln1879Glu) c.5626C>G (p.Gln1876Glu) | |
| 12 | g.115975273G>T | CA386878543 | MED13L | c.5629C>A (p.Gln1877Lys) n.619C>A n.3997C>A n.5393C>A n.3814C>A n.3640C>A c.3813C>A c.2118C>A c.5665C>A (p.Gln1889Lys) c.242C>A c.5662C>A (p.Gln1888Lys) c.5635C>A (p.Gln1879Lys) c.5626C>A (p.Gln1876Lys) | |
| 12 | g.115975274T>A | CA481944856 | MED13L | c.5628A>T (p.Leu1876=) n.618A>T n.3996A>T n.5392A>T n.3813A>T n.3639A>T c.3812A>T c.2117A>T c.5664A>T (p.Leu1888=) c.241A>T c.5661A>T (p.Leu1887=) c.5634A>T (p.Leu1878=) c.5625A>T (p.Leu1875=) | |
| 12 | g.115975274T>C | CA481944857 | MED13L | c.5628A>G (p.Leu1876=) n.618A>G n.3996A>G n.5392A>G n.3813A>G n.3639A>G c.3812A>G c.2117A>G c.5664A>G (p.Leu1888=) c.241A>G c.5661A>G (p.Leu1887=) c.5634A>G (p.Leu1878=) c.5625A>G (p.Leu1875=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.115975274T>G | CA481944858 | MED13L | c.5628A>C (p.Leu1876=) n.618A>C n.3996A>C n.5392A>C n.3813A>C n.3639A>C c.3812A>C c.2117A>C c.5664A>C (p.Leu1888=) c.241A>C c.5661A>C (p.Leu1887=) c.5634A>C (p.Leu1878=) c.5625A>C (p.Leu1875=) | |
| 12 | g.115975274T= | CA2065412915 | MED13L | c.5628A= (p.Leu1876=) n.618A= n.3996A= n.5392A= n.3813A= n.3639A= c.3812A= c.2117A= c.5664A= (p.Leu1888=) c.241A= c.5661A= (p.Leu1887=) c.5634A= (p.Leu1878=) c.5625A= (p.Leu1875=) | |
| 12 | g.115975275A>C | CA386878546 | MED13L | c.5627T>G (p.Leu1876Arg) n.617T>G n.3995T>G n.5391T>G n.3812T>G n.3638T>G c.3811T>G c.2116T>G c.5663T>G (p.Leu1888Arg) c.240T>G c.5660T>G (p.Leu1887Arg) c.5633T>G (p.Leu1878Arg) c.5624T>G (p.Leu1875Arg) | |
| 12 | g.115975275A>G | CA386878549 | MED13L | c.5627T>C (p.Leu1876Pro) n.617T>C n.3995T>C n.5391T>C n.3812T>C n.3638T>C c.3811T>C c.2116T>C c.5663T>C (p.Leu1888Pro) c.240T>C c.5660T>C (p.Leu1887Pro) c.5633T>C (p.Leu1878Pro) c.5624T>C (p.Leu1875Pro) | |
| 12 | g.115975275A>T | CA386878551 | MED13L | c.5627T>A (p.Leu1876Gln) n.617T>A n.3995T>A n.5391T>A n.3812T>A n.3638T>A c.3811T>A c.2116T>A c.5663T>A (p.Leu1888Gln) c.240T>A c.5660T>A (p.Leu1887Gln) c.5633T>A (p.Leu1878Gln) c.5624T>A (p.Leu1875Gln) | |
| 12 | g.115975276G>A | CA481944859 | MED13L | c.5626C>T (p.Leu1876=) n.616C>T n.3994C>T n.5390C>T n.3811C>T n.3637C>T c.3810C>T c.2115C>T c.5662C>T (p.Leu1888=) c.239C>T c.5659C>T (p.Leu1887=) c.5632C>T (p.Leu1878=) c.5623C>T (p.Leu1875=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.115975276G>C | CA386878559 | MED13L | c.5626C>G (p.Leu1876Val) n.616C>G n.3994C>G n.5390C>G n.3811C>G n.3637C>G c.3810C>G c.2115C>G c.5662C>G (p.Leu1888Val) c.239C>G c.5659C>G (p.Leu1887Val) c.5632C>G (p.Leu1878Val) c.5623C>G (p.Leu1875Val) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.115975276G= | CA2065412916 | MED13L | c.5626C= (p.Leu1876=) n.616C= n.3994C= n.5390C= n.3811C= n.3637C= c.3810C= c.2115C= c.5662C= (p.Leu1888=) c.239C= c.5659C= (p.Leu1887=) c.5632C= (p.Leu1878=) c.5623C= (p.Leu1875=) | |
| 12 | g.115975276G>T | CA386878556 | MED13L | c.5626C>A (p.Leu1876Ile) n.616C>A n.3994C>A n.5390C>A n.3811C>A n.3637C>A c.3810C>A c.2115C>A c.5662C>A (p.Leu1888Ile) c.239C>A c.5659C>A (p.Leu1887Ile) c.5632C>A (p.Leu1878Ile) c.5623C>A (p.Leu1875Ile) | gnomAD v4 |