Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108578297C>A | CA413924044 | COL4A5 | c.694C>A (p.Gln232Lys) c.370C>A (p.Gln124Lys) c.709C>A (p.Gln237Lys) | gnomAD v4 |
X | g.108578297C>G | CA413924045 | COL4A5 | c.694C>G (p.Gln232Glu) c.370C>G (p.Gln124Glu) c.709C>G (p.Gln237Glu) | |
X | g.108578297C>T | CA413924048 | COL4A5 | c.694C>T (p.Gln232Ter) c.370C>T (p.Gln124Ter) c.709C>T (p.Gln237Ter) | ClinVar |
X | g.108578298A>C | CA413924053 | COL4A5 | c.695A>C (p.Gln232Pro) c.371A>C (p.Gln124Pro) c.710A>C (p.Gln237Pro) | |
X | g.108578298A>G | CA413924056 | COL4A5 | c.695A>G (p.Gln232Arg) c.371A>G (p.Gln124Arg) c.710A>G (p.Gln237Arg) | |
X | g.108578298A>T | CA413924051 | COL4A5 | c.695A>T (p.Gln232Leu) c.371A>T (p.Gln124Leu) c.710A>T (p.Gln237Leu) | |
X | g.108578299A>C | CA413924058 | COL4A5 | c.696A>C (p.Gln232His) c.372A>C (p.Gln124His) c.711A>C (p.Gln237His) | gnomAD v4 |
X | g.108578299A>G | CA517991773 | COL4A5 | c.696A>G (p.Gln232=) c.372A>G (p.Gln124=) c.711A>G (p.Gln237=) | |
X | g.108578299A>T | CA413924059 | COL4A5 | c.696A>T (p.Gln232His) c.372A>T (p.Gln124His) c.711A>T (p.Gln237His) | |
X | g.108578300G>A | CA413924061 | COL4A5 | c.697G>A (p.Gly233Ser) c.373G>A (p.Gly125Ser) c.712G>A (p.Gly238Ser) | |
X | g.108578300G>C | CA413924064 | COL4A5 | c.697G>C (p.Gly233Arg) c.373G>C (p.Gly125Arg) c.712G>C (p.Gly238Arg) | |
X | g.108578300G>T | CA413924068 | COL4A5 | c.697G>T (p.Gly233Cys) c.373G>T (p.Gly125Cys) c.712G>T (p.Gly238Cys) | |
X | g.108578301del | CA2695235189 | COL4A5 | c.698del (p.Gly233ValfsTer21) c.374del (p.Gly125ValfsTer21) c.713del (p.Gly238ValfsTer21) | |
X | g.108578301G>A | CA413924074 | COL4A5 | c.698G>A (p.Gly233Asp) c.374G>A (p.Gly125Asp) c.713G>A (p.Gly238Asp) | |
X | g.108578301G>C | CA413924069 | COL4A5 | c.698G>C (p.Gly233Ala) c.374G>C (p.Gly125Ala) c.713G>C (p.Gly238Ala) | ClinVar dbSNP gnomAD v4 |
X | g.108578301G= | CA2450682317 | COL4A5 | c.698G= (p.Gly233=) c.374G= (p.Gly125=) c.713G= (p.Gly238=) | |
X | g.108578301G>T | CA413924071 | COL4A5 | c.698G>T (p.Gly233Val) c.374G>T (p.Gly125Val) c.713G>T (p.Gly238Val) | ClinVar dbSNP |
X | g.108578302T>A | CA517991774 | COL4A5 | c.699T>A (p.Gly233=) c.375T>A (p.Gly125=) c.714T>A (p.Gly238=) | |
X | g.108578302T>C | CA517991775 | COL4A5 | c.699T>C (p.Gly233=) c.375T>C (p.Gly125=) c.714T>C (p.Gly238=) | |
X | g.108578302T>G | CA517991776 | COL4A5 | c.699T>G (p.Gly233=) c.375T>G (p.Gly125=) c.714T>G (p.Gly238=) | |
X | g.108578303C>A | CA413924077 | COL4A5 | c.700C>A (p.Leu234Ile) c.376C>A (p.Leu126Ile) c.715C>A (p.Leu239Ile) | |
X | g.108578303C= | CA2450682318 | COL4A5 | c.700C= (p.Leu234=) c.376C= (p.Leu126=) c.715C= (p.Leu239=) | |
X | g.108578303C>G | CA10488551 | COL4A5 | c.700C>G (p.Leu234Val) c.376C>G (p.Leu126Val) c.715C>G (p.Leu239Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108578303C>T | CA413924081 | COL4A5 | c.700C>T (p.Leu234Phe) c.376C>T (p.Leu126Phe) c.715C>T (p.Leu239Phe) | |
X | g.108578304T>A | CA413924085 | COL4A5 | c.701T>A (p.Leu234His) c.377T>A (p.Leu126His) c.716T>A (p.Leu239His) | |
X | g.108578304T>C | CA413924088 | COL4A5 | c.701T>C (p.Leu234Pro) c.377T>C (p.Leu126Pro) c.716T>C (p.Leu239Pro) | |
X | g.108578304T>G | CA413924090 | COL4A5 | c.701T>G (p.Leu234Arg) c.377T>G (p.Leu126Arg) c.716T>G (p.Leu239Arg) | |
X | g.108578305T>A | CA517991777 | COL4A5 | c.702T>A (p.Leu234=) c.378T>A (p.Leu126=) c.717T>A (p.Leu239=) | |
X | g.108578305T>C | CA517991778 | COL4A5 | c.702T>C (p.Leu234=) c.378T>C (p.Leu126=) c.717T>C (p.Leu239=) | |
X | g.108578305T>G | CA517991779 | COL4A5 | c.702T>G (p.Leu234=) c.378T>G (p.Leu126=) c.717T>G (p.Leu239=) | |
X | g.108578306C>A | CA413924095 | COL4A5 | c.703C>A (p.Gln235Lys) c.379C>A (p.Gln127Lys) c.718C>A (p.Gln240Lys) | |
X | g.108578306C>G | CA413924098 | COL4A5 | c.703C>G (p.Gln235Glu) c.379C>G (p.Gln127Glu) c.718C>G (p.Gln240Glu) | |
X | g.108578306C>T | CA413924093 | COL4A5 | c.703C>T (p.Gln235Ter) c.379C>T (p.Gln127Ter) c.718C>T (p.Gln240Ter) | ClinVar |
X | g.108578307A>C | CA413924110 | COL4A5 | c.704A>C (p.Gln235Pro) c.380A>C (p.Gln127Pro) c.719A>C (p.Gln240Pro) | |
X | g.108578307A>G | CA413924103 | COL4A5 | c.704A>G (p.Gln235Arg) c.380A>G (p.Gln127Arg) c.719A>G (p.Gln240Arg) | gnomAD v4 |
X | g.108578307A>T | CA413924113 | COL4A5 | c.704A>T (p.Gln235Leu) c.380A>T (p.Gln127Leu) c.719A>T (p.Gln240Leu) | |
X | g.108578308G>A | CA517991780 | COL4A5 | c.705G>A (p.Gln235=) c.381G>A (p.Gln127=) c.720G>A (p.Gln240=) | gnomAD v4 |
X | g.108578308G>C | CA413924116 | COL4A5 | c.705G>C (p.Gln235His) c.381G>C (p.Gln127His) c.720G>C (p.Gln240His) | |
X | g.108578308G>T | CA413924118 | COL4A5 | c.705G>T (p.Gln235His) c.381G>T (p.Gln127His) c.720G>T (p.Gln240His) | |
X | g.108578309G>A | CA413924121 | COL4A5 | c.706G>A (p.Gly236Ser) c.382G>A (p.Gly128Ser) c.721G>A (p.Gly241Ser) | ClinVar |
X | g.108578309G>C | CA413924124 | COL4A5 | c.706G>C (p.Gly236Arg) c.382G>C (p.Gly128Arg) c.721G>C (p.Gly241Arg) | |
X | g.108578309G>T | CA413924125 | COL4A5 | c.706G>T (p.Gly236Cys) c.382G>T (p.Gly128Cys) c.721G>T (p.Gly241Cys) | |
X | g.108578310G>A | CA413924126 | COL4A5 | c.707G>A (p.Gly236Asp) c.383G>A (p.Gly128Asp) c.722G>A (p.Gly241Asp) | ClinVar dbSNP |
X | g.108578310G>C | CA413924129 | COL4A5 | c.707G>C (p.Gly236Ala) c.383G>C (p.Gly128Ala) c.722G>C (p.Gly241Ala) | |
X | g.108578310G= | CA2450682319 | COL4A5 | c.707G= (p.Gly236=) c.383G= (p.Gly128=) c.722G= (p.Gly241=) | |
X | g.108578310G>T | CA413924131 | COL4A5 | c.707G>T (p.Gly236Val) c.383G>T (p.Gly128Val) c.722G>T (p.Gly241Val) | |
X | g.108578311C>A | CA517991781 | COL4A5 | c.708C>A (p.Gly236=) c.384C>A (p.Gly128=) c.723C>A (p.Gly241=) | gnomAD v4 |
X | g.108578311C>G | CA517991782 | COL4A5 | c.708C>G (p.Gly236=) c.384C>G (p.Gly128=) c.723C>G (p.Gly241=) | |
X | g.108578311C>T | CA517991783 | COL4A5 | c.708C>T (p.Gly236=) c.384C>T (p.Gly128=) c.723C>T (p.Gly241=) | |
X | g.108578313del | CA2580100185 | COL4A5 | c.710del (p.Pro237HisfsTer17) c.386del (p.Pro129HisfsTer17) c.725del (p.Pro242HisfsTer17) | ClinVar |