Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.6167505_6167506delinsAG | CA2580615103 | F13A1 | c.1860_1861delinsCT (p.Ala621Ser) c.2022_2023delinsCT (p.Ala675Ser) | ClinVar |
6 | g.6167506del | CA2677190249 | F13A1 | c.1861del (p.Ala621ProfsTer8) c.2023del (p.Ala675ProfsTer8) | gnomAD v4 |
6 | g.6167506C>A | CA448498812 | F13A1 | c.1860G>T (p.Leu620=) c.2022G>T (p.Leu674=) | |
6 | g.6167506C= | CA1607966652 | F13A1 | c.1860G= (p.Leu620=) c.2022G= (p.Leu674=) | |
6 | g.6167506C>G | CA3624221 | F13A1 | c.1860G>C (p.Leu620=) c.2022G>C (p.Leu674=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.6167506C>T | CA448498811 | F13A1 | c.1860G>A (p.Leu620=) c.2022G>A (p.Leu674=) | |
6 | g.6167507A>C | CA362659193 | F13A1 | c.1859T>G (p.Leu620Arg) c.2021T>G (p.Leu674Arg) | |
6 | g.6167507A>G | CA362659196 | F13A1 | c.1859T>C (p.Leu620Pro) c.2021T>C (p.Leu674Pro) | gnomAD v4 |
6 | g.6167507A>T | CA362659199 | F13A1 | c.1859T>A (p.Leu620Gln) c.2021T>A (p.Leu674Gln) | |
6 | g.6167508G>A | CA448498813 | F13A1 | c.1858C>T (p.Leu620=) c.2020C>T (p.Leu674=) | |
6 | g.6167508G>C | CA362659200 | F13A1 | c.1858C>G (p.Leu620Val) c.2020C>G (p.Leu674Val) | dbSNP |
6 | g.6167508G= | CA1607966653 | F13A1 | c.1858C= (p.Leu620=) c.2020C= (p.Leu674=) | |
6 | g.6167508G>T | CA3624222 | F13A1 | c.1858C>A (p.Leu620Met) c.2020C>A (p.Leu674Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.6167509A>C | CA448498814 | F13A1 | c.1857T>G (p.Val619=) c.2019T>G (p.Val673=) | |
6 | g.6167509A>G | CA448498815 | F13A1 | c.1857T>C (p.Val619=) c.2019T>C (p.Val673=) | gnomAD v4 |
6 | g.6167509A>T | CA448498816 | F13A1 | c.1857T>A (p.Val619=) c.2019T>A (p.Val673=) | |
6 | g.6167510A>C | CA362659204 | F13A1 | c.1856T>G (p.Val619Gly) c.2018T>G (p.Val673Gly) | |
6 | g.6167510A>G | CA362659214 | F13A1 | c.1856T>C (p.Val619Ala) c.2018T>C (p.Val673Ala) | |
6 | g.6167510A>T | CA362659218 | F13A1 | c.1856T>A (p.Val619Asp) c.2018T>A (p.Val673Asp) | |
6 | g.6167511C>A | CA362659221 | F13A1 | c.1855G>T (p.Val619Phe) c.2017G>T (p.Val673Phe) | |
6 | g.6167511C>G | CA362659222 | F13A1 | c.1855G>C (p.Val619Leu) c.2017G>C (p.Val673Leu) | |
6 | g.6167511C>T | CA362659224 | F13A1 | c.1855G>A (p.Val619Ile) c.2017G>A (p.Val673Ile) | |
6 | g.6167512A>C | CA362659232 | F13A1 | c.1854T>G (p.Asp618Glu) c.2016T>G (p.Asp672Glu) | |
6 | g.6167512A>G | CA448498817 | F13A1 | c.1854T>C (p.Asp618=) c.2016T>C (p.Asp672=) | |
6 | g.6167512A>T | CA362659234 | F13A1 | c.1854T>A (p.Asp618Glu) c.2016T>A (p.Asp672Glu) | |
6 | g.6167513T>A | CA362659241 | F13A1 | c.1853A>T (p.Asp618Val) c.2015A>T (p.Asp672Val) | |
6 | g.6167513T>C | CA362659240 | F13A1 | c.1853A>G (p.Asp618Gly) c.2015A>G (p.Asp672Gly) | COSMIC |
6 | g.6167513T>G | CA362659236 | F13A1 | c.1853A>C (p.Asp618Ala) c.2015A>C (p.Asp672Ala) | gnomAD v4 |
6 | g.6167514C>A | CA362659242 | F13A1 | c.1852G>T (p.Asp618Tyr) c.2014G>T (p.Asp672Tyr) | |
6 | g.6167514C>G | CA362659248 | F13A1 | c.1852G>C (p.Asp618His) c.2014G>C (p.Asp672His) | |
6 | g.6167514C>T | CA362659244 | F13A1 | c.1852G>A (p.Asp618Asn) c.2014G>A (p.Asp672Asn) | |
6 | g.6167515C>A | CA362659251 | F13A1 | c.1851G>T (p.Arg617Ser) c.2013G>T (p.Arg671Ser) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.6167515C= | CA1607966654 | F13A1 | c.1851G= (p.Arg617=) c.2013G= (p.Arg671=) | |
6 | g.6167515C>G | CA362659255 | F13A1 | c.1851G>C (p.Arg617Ser) c.2013G>C (p.Arg671Ser) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.6167515C>T | CA448498818 | F13A1 | c.1851G>A (p.Arg617=) c.2013G>A (p.Arg671=) | |
6 | g.6167516C>A | CA3624223 | F13A1 | c.1850G>T (p.Arg617Met) c.2012G>T (p.Arg671Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.6167516C= | CA1607966655 | F13A1 | c.1850G= (p.Arg617=) c.2012G= (p.Arg671=) | |
6 | g.6167516C>G | CA362659272 | F13A1 | c.1850G>C (p.Arg617Thr) c.2012G>C (p.Arg671Thr) | |
6 | g.6167516C>T | CA362659284 | F13A1 | c.1850G>A (p.Arg617Lys) c.2012G>A (p.Arg671Lys) | |
6 | g.6167517T>A | CA362659290 | F13A1 | c.1849A>T (p.Arg617Trp) c.2011A>T (p.Arg671Trp) | |
6 | g.6167517T>C | CA362659292 | F13A1 | c.1849A>G (p.Arg617Gly) c.2011A>G (p.Arg671Gly) | |
6 | g.6167517T>G | CA448498819 | F13A1 | c.1849A>C (p.Arg617=) c.2011A>C (p.Arg671=) | |
6 | g.6167518G>A | CA448498820 | F13A1 | c.1848C>T (p.Thr616=) c.2010C>T (p.Thr670=) | |
6 | g.6167518G>C | CA448498821 | F13A1 | c.1848C>G (p.Thr616=) c.2010C>G (p.Thr670=) | |
6 | g.6167518G>T | CA448498822 | F13A1 | c.1848C>A (p.Thr616=) c.2010C>A (p.Thr670=) | |
6 | g.6167519G>A | CA362659293 | F13A1 | c.1847C>T (p.Thr616Ile) c.2009C>T (p.Thr670Ile) | gnomAD v4 |
6 | g.6167519G>C | CA362659294 | F13A1 | c.1847C>G (p.Thr616Ser) c.2009C>G (p.Thr670Ser) | |
6 | g.6167519G>T | CA362659295 | F13A1 | c.1847C>A (p.Thr616Asn) c.2009C>A (p.Thr670Asn) | |
6 | g.6167520T>A | CA362659297 | F13A1 | c.1846A>T (p.Thr616Ser) c.2008A>T (p.Thr670Ser) | dbSNP |
6 | g.6167520T>C | CA362659301 | F13A1 | c.1846A>G (p.Thr616Ala) c.2008A>G (p.Thr670Ala) |