Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.237344475_237344476delinsAGCA1337610895COL6A3c.187_188delinsCT
c.6924_6925delinsCT (p.Phe2308=)
c.7542_7543delinsCT (p.Phe2514=)
c.5718_5719delinsCT (p.Phe1906=)
c.5721_5722delinsCT (p.Phe1907=)
n.1796_1797delinsCT
c.6942_6943delinsCT (p.Phe2314=)
c.6321_6322delinsCT (p.Phe2107=)
c.7041_7042delinsCT (p.Phe2347=)
c.7539_7540delinsCT (p.Phe2513=)
c.5136_5137delinsCT (p.Phe1712=)
2g.237344476delCA10605613COL6A3c.187del
c.6924del (p.Phe2309SerfsTer?)
c.7542del (p.Phe2515SerfsTer?)
c.5718del (p.Phe1907SerfsTer?)
c.5721del (p.Phe1908SerfsTer?)
n.1796del
c.6942del (p.Phe2315SerfsTer?)
c.6321del (p.Phe2108SerfsTer?)
c.7041del (p.Phe2348SerfsTer?)
c.7539del (p.Phe2514SerfsTer?)
c.5136del (p.Phe1713SerfsTer?)
 ClinVar dbSNP
2g.237344476G>ACA2187785COL6A3c.187C>T
c.6924C>T (p.Phe2308=)
c.7542C>T (p.Phe2514=)
c.5718C>T (p.Phe1906=)
c.5721C>T (p.Phe1907=)
n.1796C>T
c.6942C>T (p.Phe2314=)
c.6321C>T (p.Phe2107=)
c.7041C>T (p.Phe2347=)
c.7539C>T (p.Phe2513=)
c.5136C>T (p.Phe1712=)
 dbSNP ExAC gnomAD v2
2g.237344476G>CCA67839152COL6A3c.187C>G
c.6924C>G (p.Phe2308Leu)
c.7542C>G (p.Phe2514Leu)
c.5718C>G (p.Phe1906Leu)
c.5721C>G (p.Phe1907Leu)
n.1796C>G
c.6942C>G (p.Phe2314Leu)
c.6321C>G (p.Phe2107Leu)
c.7041C>G (p.Phe2347Leu)
c.7539C>G (p.Phe2513Leu)
c.5136C>G (p.Phe1712Leu)
 dbSNP
2g.237344476G=CA1337610896COL6A3c.187C=
c.6924C= (p.Phe2308=)
c.7542C= (p.Phe2514=)
c.5718C= (p.Phe1906=)
c.5721C= (p.Phe1907=)
n.1796C=
c.6942C= (p.Phe2314=)
c.6321C= (p.Phe2107=)
c.7041C= (p.Phe2347=)
c.7539C= (p.Phe2513=)
c.5136C= (p.Phe1712=)
2g.237344476G>TCA351202292COL6A3c.187C>A
c.6924C>A (p.Phe2308Leu)
c.7542C>A (p.Phe2514Leu)
c.5718C>A (p.Phe1906Leu)
c.5721C>A (p.Phe1907Leu)
n.1796C>A
c.6942C>A (p.Phe2314Leu)
c.6321C>A (p.Phe2107Leu)
c.7041C>A (p.Phe2347Leu)
c.7539C>A (p.Phe2513Leu)
c.5136C>A (p.Phe1712Leu)
2g.237344477A=CA1337610897COL6A3c.186T=
c.6923T= (p.Phe2308=)
c.7541T= (p.Phe2514=)
c.5717T= (p.Phe1906=)
c.5720T= (p.Phe1907=)
n.1795T=
c.6941T= (p.Phe2314=)
c.6320T= (p.Phe2107=)
c.7040T= (p.Phe2347=)
c.7538T= (p.Phe2513=)
c.5135T= (p.Phe1712=)
2g.237344477A>CCA351202296COL6A3c.186T>G
c.6923T>G (p.Phe2308Cys)
c.7541T>G (p.Phe2514Cys)
c.5717T>G (p.Phe1906Cys)
c.5720T>G (p.Phe1907Cys)
n.1795T>G
c.6941T>G (p.Phe2314Cys)
c.6320T>G (p.Phe2107Cys)
c.7040T>G (p.Phe2347Cys)
c.7538T>G (p.Phe2513Cys)
c.5135T>G (p.Phe1712Cys)
2g.237344477A>GCA351202297COL6A3c.186T>C
c.6923T>C (p.Phe2308Ser)
c.7541T>C (p.Phe2514Ser)
c.5717T>C (p.Phe1906Ser)
c.5720T>C (p.Phe1907Ser)
n.1795T>C
c.6941T>C (p.Phe2314Ser)
c.6320T>C (p.Phe2107Ser)
c.7040T>C (p.Phe2347Ser)
c.7538T>C (p.Phe2513Ser)
c.5135T>C (p.Phe1712Ser)
2g.237344477A>TCA2187786COL6A3c.186T>A
c.6923T>A (p.Phe2308Tyr)
c.7541T>A (p.Phe2514Tyr)
c.5717T>A (p.Phe1906Tyr)
c.5720T>A (p.Phe1907Tyr)
n.1795T>A
c.6941T>A (p.Phe2314Tyr)
c.6320T>A (p.Phe2107Tyr)
c.7040T>A (p.Phe2347Tyr)
c.7538T>A (p.Phe2513Tyr)
c.5135T>A (p.Phe1712Tyr)
 dbSNP ExAC gnomAD v2
2g.237344478A>CCA351202299COL6A3c.185T>G
c.6922T>G (p.Phe2308Val)
c.7540T>G (p.Phe2514Val)
c.5716T>G (p.Phe1906Val)
c.5719T>G (p.Phe1907Val)
n.1794T>G
c.6940T>G (p.Phe2314Val)
c.6319T>G (p.Phe2107Val)
c.7039T>G (p.Phe2347Val)
c.7537T>G (p.Phe2513Val)
c.5134T>G (p.Phe1712Val)
2g.237344478A>GCA351202301COL6A3c.185T>C
c.6922T>C (p.Phe2308Leu)
c.7540T>C (p.Phe2514Leu)
c.5716T>C (p.Phe1906Leu)
c.5719T>C (p.Phe1907Leu)
n.1794T>C
c.6940T>C (p.Phe2314Leu)
c.6319T>C (p.Phe2107Leu)
c.7039T>C (p.Phe2347Leu)
c.7537T>C (p.Phe2513Leu)
c.5134T>C (p.Phe1712Leu)
2g.237344478A>TCA351202303COL6A3c.185T>A
c.6922T>A (p.Phe2308Ile)
c.7540T>A (p.Phe2514Ile)
c.5716T>A (p.Phe1906Ile)
c.5719T>A (p.Phe1907Ile)
n.1794T>A
c.6940T>A (p.Phe2314Ile)
c.6319T>A (p.Phe2107Ile)
c.7039T>A (p.Phe2347Ile)
c.7537T>A (p.Phe2513Ile)
c.5134T>A (p.Phe1712Ile)
2g.237344479A=CA1337610898COL6A3c.184T=
c.6921T= (p.Val2307=)
c.7539T= (p.Val2513=)
c.5715T= (p.Val1905=)
c.5718T= (p.Val1906=)
n.1793T=
c.6939T= (p.Val2313=)
c.6318T= (p.Val2106=)
c.7038T= (p.Val2346=)
c.7536T= (p.Val2512=)
c.5133T= (p.Val1711=)
2g.237344479A>CCA431710342COL6A3c.184T>G
c.6921T>G (p.Val2307=)
c.7539T>G (p.Val2513=)
c.5715T>G (p.Val1905=)
c.5718T>G (p.Val1906=)
n.1793T>G
c.6939T>G (p.Val2313=)
c.6318T>G (p.Val2106=)
c.7038T>G (p.Val2346=)
c.7536T>G (p.Val2512=)
c.5133T>G (p.Val1711=)
2g.237344479A>GCA2187787COL6A3c.184T>C
c.6921T>C (p.Val2307=)
c.7539T>C (p.Val2513=)
c.5715T>C (p.Val1905=)
c.5718T>C (p.Val1906=)
n.1793T>C
c.6939T>C (p.Val2313=)
c.6318T>C (p.Val2106=)
c.7038T>C (p.Val2346=)
c.7536T>C (p.Val2512=)
c.5133T>C (p.Val1711=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237344479A>TCA431710343COL6A3c.184T>A
c.6921T>A (p.Val2307=)
c.7539T>A (p.Val2513=)
c.5715T>A (p.Val1905=)
c.5718T>A (p.Val1906=)
n.1793T>A
c.6939T>A (p.Val2313=)
c.6318T>A (p.Val2106=)
c.7038T>A (p.Val2346=)
c.7536T>A (p.Val2512=)
c.5133T>A (p.Val1711=)
2g.237344480A=CA1337610899COL6A3c.183T=
c.6920T= (p.Val2307=)
c.7538T= (p.Val2513=)
c.5714T= (p.Val1905=)
c.5717T= (p.Val1906=)
n.1792T=
c.6938T= (p.Val2313=)
c.6317T= (p.Val2106=)
c.7037T= (p.Val2346=)
c.7535T= (p.Val2512=)
c.5132T= (p.Val1711=)
2g.237344480A>CCA2187788COL6A3c.183T>G
c.6920T>G (p.Val2307Gly)
c.7538T>G (p.Val2513Gly)
c.5714T>G (p.Val1905Gly)
c.5717T>G (p.Val1906Gly)
n.1792T>G
c.6938T>G (p.Val2313Gly)
c.6317T>G (p.Val2106Gly)
c.7037T>G (p.Val2346Gly)
c.7535T>G (p.Val2512Gly)
c.5132T>G (p.Val1711Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237344480A>GCA351202315COL6A3c.183T>C
c.6920T>C (p.Val2307Ala)
c.7538T>C (p.Val2513Ala)
c.5714T>C (p.Val1905Ala)
c.5717T>C (p.Val1906Ala)
n.1792T>C
c.6938T>C (p.Val2313Ala)
c.6317T>C (p.Val2106Ala)
c.7037T>C (p.Val2346Ala)
c.7535T>C (p.Val2512Ala)
c.5132T>C (p.Val1711Ala)
2g.237344480A>TCA351202310COL6A3c.183T>A
c.6920T>A (p.Val2307Asp)
c.7538T>A (p.Val2513Asp)
c.5714T>A (p.Val1905Asp)
c.5717T>A (p.Val1906Asp)
n.1792T>A
c.6938T>A (p.Val2313Asp)
c.6317T>A (p.Val2106Asp)
c.7037T>A (p.Val2346Asp)
c.7535T>A (p.Val2512Asp)
c.5132T>A (p.Val1711Asp)
2g.237344481C>ACA351202324COL6A3c.182G>T
c.6919G>T (p.Val2307Phe)
c.7537G>T (p.Val2513Phe)
c.5713G>T (p.Val1905Phe)
c.5716G>T (p.Val1906Phe)
n.1791G>T
c.6937G>T (p.Val2313Phe)
c.6316G>T (p.Val2106Phe)
c.7036G>T (p.Val2346Phe)
c.7534G>T (p.Val2512Phe)
c.5131G>T (p.Val1711Phe)
2g.237344481C=CA1337610901COL6A3c.182G=
c.6919G= (p.Val2307=)
c.7537G= (p.Val2513=)
c.5713G= (p.Val1905=)
c.5716G= (p.Val1906=)
n.1791G=
c.6937G= (p.Val2313=)
c.6316G= (p.Val2106=)
c.7036G= (p.Val2346=)
c.7534G= (p.Val2512=)
c.5131G= (p.Val1711=)
2g.237344481C>GCA351202321COL6A3c.182G>C
c.6919G>C (p.Val2307Leu)
c.7537G>C (p.Val2513Leu)
c.5713G>C (p.Val1905Leu)
c.5716G>C (p.Val1906Leu)
n.1791G>C
c.6937G>C (p.Val2313Leu)
c.6316G>C (p.Val2106Leu)
c.7036G>C (p.Val2346Leu)
c.7534G>C (p.Val2512Leu)
c.5131G>C (p.Val1711Leu)
2g.237344481C>TCA67839181COL6A3c.182G>A
c.6919G>A (p.Val2307Ile)
c.7537G>A (p.Val2513Ile)
c.5713G>A (p.Val1905Ile)
c.5716G>A (p.Val1906Ile)
n.1791G>A
c.6937G>A (p.Val2313Ile)
c.6316G>A (p.Val2106Ile)
c.7036G>A (p.Val2346Ile)
c.7534G>A (p.Val2512Ile)
c.5131G>A (p.Val1711Ile)
 dbSNP gnomAD v4
2g.237344481dupCA1337610900COL6A3c.182dup
c.6919dup (p.Val2307GlyfsTer?)
c.7537dup (p.Val2513GlyfsTer?)
c.5713dup (p.Val1905GlyfsTer?)
c.5716dup (p.Val1906GlyfsTer?)
n.1791dup
c.6937dup (p.Val2313GlyfsTer?)
c.6316dup (p.Val2106GlyfsTer?)
c.7036dup (p.Val2346GlyfsTer?)
c.7534dup (p.Val2512GlyfsTer?)
c.5131dup (p.Val1711GlyfsTer?)
 dbSNP
2g.237344482delCA2577289642COL6A3c.181del
c.6918del (p.Val2307PhefsTer?)
c.7536del (p.Val2513PhefsTer?)
c.5712del (p.Val1905PhefsTer?)
c.5715del (p.Val1906PhefsTer?)
n.1790del
c.6936del (p.Val2313PhefsTer?)
c.6315del (p.Val2106PhefsTer?)
c.7035del (p.Val2346PhefsTer?)
c.7533del (p.Val2512PhefsTer?)
c.5130del (p.Val1711PhefsTer?)
2g.237344482A>CCA431710345COL6A3c.181T>G
c.6918T>G (p.Ala2306=)
c.7536T>G (p.Ala2512=)
c.5712T>G (p.Ala1904=)
c.5715T>G (p.Ala1905=)
n.1790T>G
c.6936T>G (p.Ala2312=)
c.6315T>G (p.Ala2105=)
c.7035T>G (p.Ala2345=)
c.7533T>G (p.Ala2511=)
c.5130T>G (p.Ala1710=)
2g.237344482A>GCA431710347COL6A3c.181T>C
c.6918T>C (p.Ala2306=)
c.7536T>C (p.Ala2512=)
c.5712T>C (p.Ala1904=)
c.5715T>C (p.Ala1905=)
n.1790T>C
c.6936T>C (p.Ala2312=)
c.6315T>C (p.Ala2105=)
c.7035T>C (p.Ala2345=)
c.7533T>C (p.Ala2511=)
c.5130T>C (p.Ala1710=)
 gnomAD v4
2g.237344482A>TCA431710346COL6A3c.181T>A
c.6918T>A (p.Ala2306=)
c.7536T>A (p.Ala2512=)
c.5712T>A (p.Ala1904=)
c.5715T>A (p.Ala1905=)
n.1790T>A
c.6936T>A (p.Ala2312=)
c.6315T>A (p.Ala2105=)
c.7035T>A (p.Ala2345=)
c.7533T>A (p.Ala2511=)
c.5130T>A (p.Ala1710=)
2g.237344483G>ACA351202328COL6A3c.180C>T
c.6917C>T (p.Ala2306Val)
c.7535C>T (p.Ala2512Val)
c.5711C>T (p.Ala1904Val)
c.5714C>T (p.Ala1905Val)
n.1789C>T
c.6935C>T (p.Ala2312Val)
c.6314C>T (p.Ala2105Val)
c.7034C>T (p.Ala2345Val)
c.7532C>T (p.Ala2511Val)
c.5129C>T (p.Ala1710Val)
 gnomAD v4
2g.237344483G>CCA351202334COL6A3c.180C>G
c.6917C>G (p.Ala2306Gly)
c.7535C>G (p.Ala2512Gly)
c.5711C>G (p.Ala1904Gly)
c.5714C>G (p.Ala1905Gly)
n.1789C>G
c.6935C>G (p.Ala2312Gly)
c.6314C>G (p.Ala2105Gly)
c.7034C>G (p.Ala2345Gly)
c.7532C>G (p.Ala2511Gly)
c.5129C>G (p.Ala1710Gly)
2g.237344483G>TCA351202337COL6A3c.180C>A
c.6917C>A (p.Ala2306Asp)
c.7535C>A (p.Ala2512Asp)
c.5711C>A (p.Ala1904Asp)
c.5714C>A (p.Ala1905Asp)
n.1789C>A
c.6935C>A (p.Ala2312Asp)
c.6314C>A (p.Ala2105Asp)
c.7034C>A (p.Ala2345Asp)
c.7532C>A (p.Ala2511Asp)
c.5129C>A (p.Ala1710Asp)
2g.237344484C>ACA351202340COL6A3c.179G>T
c.6916G>T (p.Ala2306Ser)
c.7534G>T (p.Ala2512Ser)
c.5710G>T (p.Ala1904Ser)
c.5713G>T (p.Ala1905Ser)
n.1788G>T
c.6934G>T (p.Ala2312Ser)
c.6313G>T (p.Ala2105Ser)
c.7033G>T (p.Ala2345Ser)
c.7531G>T (p.Ala2511Ser)
c.5128G>T (p.Ala1710Ser)
2g.237344484C=CA1337610902COL6A3c.179G=
c.6916G= (p.Ala2306=)
c.7534G= (p.Ala2512=)
c.5710G= (p.Ala1904=)
c.5713G= (p.Ala1905=)
n.1788G=
c.6934G= (p.Ala2312=)
c.6313G= (p.Ala2105=)
c.7033G= (p.Ala2345=)
c.7531G= (p.Ala2511=)
c.5128G= (p.Ala1710=)
2g.237344484C>GCA351202342COL6A3c.179G>C
c.6916G>C (p.Ala2306Pro)
c.7534G>C (p.Ala2512Pro)
c.5710G>C (p.Ala1904Pro)
c.5713G>C (p.Ala1905Pro)
n.1788G>C
c.6934G>C (p.Ala2312Pro)
c.6313G>C (p.Ala2105Pro)
c.7033G>C (p.Ala2345Pro)
c.7531G>C (p.Ala2511Pro)
c.5128G>C (p.Ala1710Pro)
2g.237344484C>TCA67839186COL6A3c.179G>A
c.6916G>A (p.Ala2306Thr)
c.7534G>A (p.Ala2512Thr)
c.5710G>A (p.Ala1904Thr)
c.5713G>A (p.Ala1905Thr)
n.1788G>A
c.6934G>A (p.Ala2312Thr)
c.6313G>A (p.Ala2105Thr)
c.7033G>A (p.Ala2345Thr)
c.7531G>A (p.Ala2511Thr)
c.5128G>A (p.Ala1710Thr)
 dbSNP
2g.237344485C>ACA431710353COL6A3c.178G>T
c.6915G>T (p.Val2305=)
c.7533G>T (p.Val2511=)
c.5709G>T (p.Val1903=)
c.5712G>T (p.Val1904=)
n.1787G>T
c.6933G>T (p.Val2311=)
c.6312G>T (p.Val2104=)
c.7032G>T (p.Val2344=)
c.7530G>T (p.Val2510=)
c.5127G>T (p.Val1709=)
2g.237344485C>GCA431710351COL6A3c.178G>C
c.6915G>C (p.Val2305=)
c.7533G>C (p.Val2511=)
c.5709G>C (p.Val1903=)
c.5712G>C (p.Val1904=)
n.1787G>C
c.6933G>C (p.Val2311=)
c.6312G>C (p.Val2104=)
c.7032G>C (p.Val2344=)
c.7530G>C (p.Val2510=)
c.5127G>C (p.Val1709=)
2g.237344485C>TCA431710352COL6A3c.178G>A
c.6915G>A (p.Val2305=)
c.7533G>A (p.Val2511=)
c.5709G>A (p.Val1903=)
c.5712G>A (p.Val1904=)
n.1787G>A
c.6933G>A (p.Val2311=)
c.6312G>A (p.Val2104=)
c.7032G>A (p.Val2344=)
c.7530G>A (p.Val2510=)
c.5127G>A (p.Val1709=)
2g.237344486A=CA1337610903COL6A3c.177T=
c.6914T= (p.Val2305=)
c.7532T= (p.Val2511=)
c.5708T= (p.Val1903=)
c.5711T= (p.Val1904=)
n.1786T=
c.6932T= (p.Val2311=)
c.6311T= (p.Val2104=)
c.7031T= (p.Val2344=)
c.7529T= (p.Val2510=)
c.5126T= (p.Val1709=)
2g.237344486A>CCA351202345COL6A3c.177T>G
c.6914T>G (p.Val2305Gly)
c.7532T>G (p.Val2511Gly)
c.5708T>G (p.Val1903Gly)
c.5711T>G (p.Val1904Gly)
n.1786T>G
c.6932T>G (p.Val2311Gly)
c.6311T>G (p.Val2104Gly)
c.7031T>G (p.Val2344Gly)
c.7529T>G (p.Val2510Gly)
c.5126T>G (p.Val1709Gly)
2g.237344486A>GCA351202346COL6A3c.177T>C
c.6914T>C (p.Val2305Ala)
c.7532T>C (p.Val2511Ala)
c.5708T>C (p.Val1903Ala)
c.5711T>C (p.Val1904Ala)
n.1786T>C
c.6932T>C (p.Val2311Ala)
c.6311T>C (p.Val2104Ala)
c.7031T>C (p.Val2344Ala)
c.7529T>C (p.Val2510Ala)
c.5126T>C (p.Val1709Ala)
2g.237344486A>TCA2187789COL6A3c.177T>A
c.6914T>A (p.Val2305Glu)
c.7532T>A (p.Val2511Glu)
c.5708T>A (p.Val1903Glu)
c.5711T>A (p.Val1904Glu)
n.1786T>A
c.6932T>A (p.Val2311Glu)
c.6311T>A (p.Val2104Glu)
c.7031T>A (p.Val2344Glu)
c.7529T>A (p.Val2510Glu)
c.5126T>A (p.Val1709Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237344487C>ACA351202348COL6A3c.176G>T
c.6913G>T (p.Val2305Leu)
c.7531G>T (p.Val2511Leu)
c.5707G>T (p.Val1903Leu)
c.5710G>T (p.Val1904Leu)
n.1785G>T
c.6931G>T (p.Val2311Leu)
c.6310G>T (p.Val2104Leu)
c.7030G>T (p.Val2344Leu)
c.7528G>T (p.Val2510Leu)
c.5125G>T (p.Val1709Leu)
2g.237344487C>GCA351202350COL6A3c.176G>C
c.6913G>C (p.Val2305Leu)
c.7531G>C (p.Val2511Leu)
c.5707G>C (p.Val1903Leu)
c.5710G>C (p.Val1904Leu)
n.1785G>C
c.6931G>C (p.Val2311Leu)
c.6310G>C (p.Val2104Leu)
c.7030G>C (p.Val2344Leu)
c.7528G>C (p.Val2510Leu)
c.5125G>C (p.Val1709Leu)
2g.237344487C>TCA351202353COL6A3c.176G>A
c.6913G>A (p.Val2305Met)
c.7531G>A (p.Val2511Met)
c.5707G>A (p.Val1903Met)
c.5710G>A (p.Val1904Met)
n.1785G>A
c.6931G>A (p.Val2311Met)
c.6310G>A (p.Val2104Met)
c.7030G>A (p.Val2344Met)
c.7528G>A (p.Val2510Met)
c.5125G>A (p.Val1709Met)
2g.237344488T>ACA351202356COL6A3c.175A>T
c.6912A>T (p.Lys2304Asn)
c.7530A>T (p.Lys2510Asn)
c.5706A>T (p.Lys1902Asn)
c.5709A>T (p.Lys1903Asn)
n.1784A>T
c.6930A>T (p.Lys2310Asn)
c.6309A>T (p.Lys2103Asn)
c.7029A>T (p.Lys2343Asn)
c.7527A>T (p.Lys2509Asn)
c.5124A>T (p.Lys1708Asn)
2g.237344488T>CCA431710356COL6A3c.175A>G
c.6912A>G (p.Lys2304=)
c.7530A>G (p.Lys2510=)
c.5706A>G (p.Lys1902=)
c.5709A>G (p.Lys1903=)
n.1784A>G
c.6930A>G (p.Lys2310=)
c.6309A>G (p.Lys2103=)
c.7029A>G (p.Lys2343=)
c.7527A>G (p.Lys2509=)
c.5124A>G (p.Lys1708=)
 dbSNP gnomAD v2 gnomAD v4
2g.237344488T>GCA351202355COL6A3c.175A>C
c.6912A>C (p.Lys2304Asn)
c.7530A>C (p.Lys2510Asn)
c.5706A>C (p.Lys1902Asn)
c.5709A>C (p.Lys1903Asn)
n.1784A>C
c.6930A>C (p.Lys2310Asn)
c.6309A>C (p.Lys2103Asn)
c.7029A>C (p.Lys2343Asn)
c.7527A>C (p.Lys2509Asn)
c.5124A>C (p.Lys1708Asn)

Number of alleles fetched