Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.43577070T>ACA352343960ANO10c.784A>T (p.Lys262Ter)
c.593-2206A>T (n.593-2206A>T)
c.586A>T (p.Lys196Ter)
c.473-11343A>T (n.473-11343A>T)
c.451A>T (p.Lys151Ter)
n.900A>T
3g.43577070T>CCA352343961ANO10c.784A>G (p.Lys262Glu)
c.593-2206A>G (n.593-2206A>G)
c.586A>G (p.Lys196Glu)
c.473-11343A>G (n.473-11343A>G)
c.451A>G (p.Lys151Glu)
n.900A>G
3g.43577070T>GCA352343962ANO10c.784A>C (p.Lys262Gln)
c.593-2206A>C (n.593-2206A>C)
c.586A>C (p.Lys196Gln)
c.473-11343A>C (n.473-11343A>C)
c.451A>C (p.Lys151Gln)
n.900A>C
 dbSNP gnomAD v2 gnomAD v4
3g.43577070T=CA1360853197ANO10c.784A= (p.Lys262=)
c.593-2206A= (n.593-2206A=)
c.586A= (p.Lys196=)
c.473-11343A= (n.473-11343A=)
c.451A= (p.Lys151=)
n.900A=
3g.43577071C>ACA352343963ANO10c.783G>T (p.Trp261Cys)
c.593-2207G>T (n.593-2207G>T)
c.585G>T (p.Trp195Cys)
c.473-11344G>T (n.473-11344G>T)
c.450G>T (p.Trp150Cys)
n.899G>T
 gnomAD v4
3g.43577071C=CA1360853198ANO10c.783G= (p.Trp261=)
c.593-2207G= (n.593-2207G=)
c.585G= (p.Trp195=)
c.473-11344G= (n.473-11344G=)
c.450G= (p.Trp150=)
n.899G=
3g.43577071C>GCA352343964ANO10c.783G>C (p.Trp261Cys)
c.593-2207G>C (n.593-2207G>C)
c.585G>C (p.Trp195Cys)
c.473-11344G>C (n.473-11344G>C)
c.450G>C (p.Trp150Cys)
n.899G>C
3g.43577071C>TCA352343965ANO10c.783G>A (p.Trp261Ter)
c.593-2207G>A (n.593-2207G>A)
c.585G>A (p.Trp195Ter)
c.473-11344G>A (n.473-11344G>A)
c.450G>A (p.Trp150Ter)
n.899G>A
 dbSNP gnomAD v4
3g.43577072C>ACA352343966ANO10c.782G>T (p.Trp261Leu)
c.593-2208G>T (n.593-2208G>T)
c.584G>T (p.Trp195Leu)
c.473-11345G>T (n.473-11345G>T)
c.449G>T (p.Trp150Leu)
n.898G>T
3g.43577072C>GCA352343967ANO10c.782G>C (p.Trp261Ser)
c.593-2208G>C (n.593-2208G>C)
c.584G>C (p.Trp195Ser)
c.473-11345G>C (n.473-11345G>C)
c.449G>C (p.Trp150Ser)
n.898G>C
3g.43577072C>TCA352343968ANO10c.782G>A (p.Trp261Ter)
c.593-2208G>A (n.593-2208G>A)
c.584G>A (p.Trp195Ter)
c.473-11345G>A (n.473-11345G>A)
c.449G>A (p.Trp150Ter)
n.898G>A
3g.43577073A>CCA352343969ANO10c.781T>G (p.Trp261Gly)
c.593-2209T>G (n.593-2209T>G)
c.583T>G (p.Trp195Gly)
c.473-11346T>G (n.473-11346T>G)
c.448T>G (p.Trp150Gly)
n.897T>G
3g.43577073A>GCA352343970ANO10c.781T>C (p.Trp261Arg)
c.593-2209T>C (n.593-2209T>C)
c.583T>C (p.Trp195Arg)
c.473-11346T>C (n.473-11346T>C)
c.448T>C (p.Trp150Arg)
n.897T>C
3g.43577073A>TCA352343971ANO10c.781T>A (p.Trp261Arg)
c.593-2209T>A (n.593-2209T>A)
c.583T>A (p.Trp195Arg)
c.473-11346T>A (n.473-11346T>A)
c.448T>A (p.Trp150Arg)
n.897T>A
3g.43577074C>ACA433573811ANO10c.780G>T (p.Leu260=)
c.593-2210G>T (n.593-2210G>T)
c.582G>T (p.Leu194=)
c.473-11347G>T (n.473-11347G>T)
c.447G>T (p.Leu149=)
n.896G>T
 dbSNP gnomAD v2 gnomAD v4
3g.43577074C=CA1360853199ANO10c.780G= (p.Leu260=)
c.593-2210G= (n.593-2210G=)
c.582G= (p.Leu194=)
c.473-11347G= (n.473-11347G=)
c.447G= (p.Leu149=)
n.896G=
3g.43577074C>GCA433573813ANO10c.780G>C (p.Leu260=)
c.593-2210G>C (n.593-2210G>C)
c.582G>C (p.Leu194=)
c.473-11347G>C (n.473-11347G>C)
c.447G>C (p.Leu149=)
n.896G>C
3g.43577074C>TCA433573815ANO10c.780G>A (p.Leu260=)
c.593-2210G>A (n.593-2210G>A)
c.582G>A (p.Leu194=)
c.473-11347G>A (n.473-11347G>A)
c.447G>A (p.Leu149=)
n.896G>A
3g.43577075A=CA1360853200ANO10c.779T= (p.Leu260=)
c.593-2211T= (n.593-2211T=)
c.581T= (p.Leu194=)
c.473-11348T= (n.473-11348T=)
c.446T= (p.Leu149=)
n.895T=
3g.43577075A>CCA352343972ANO10c.779T>G (p.Leu260Arg)
c.593-2211T>G (n.593-2211T>G)
c.581T>G (p.Leu194Arg)
c.473-11348T>G (n.473-11348T>G)
c.446T>G (p.Leu149Arg)
n.895T>G
3g.43577075A>GCA352343974ANO10c.779T>C (p.Leu260Pro)
c.593-2211T>C (n.593-2211T>C)
c.581T>C (p.Leu194Pro)
c.473-11348T>C (n.473-11348T>C)
c.446T>C (p.Leu149Pro)
n.895T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.43577075A>TCA352343973ANO10c.779T>A (p.Leu260Gln)
c.593-2211T>A (n.593-2211T>A)
c.581T>A (p.Leu194Gln)
c.473-11348T>A (n.473-11348T>A)
c.446T>A (p.Leu149Gln)
n.895T>A
3g.43577076G>ACA433573819ANO10c.778C>T (p.Leu260=)
c.593-2212C>T (n.593-2212C>T)
c.580C>T (p.Leu194=)
c.473-11349C>T (n.473-11349C>T)
c.445C>T (p.Leu149=)
n.894C>T
3g.43577076G>CCA74378020ANO10c.778C>G (p.Leu260Val)
c.593-2212C>G (n.593-2212C>G)
c.580C>G (p.Leu194Val)
c.473-11349C>G (n.473-11349C>G)
c.445C>G (p.Leu149Val)
n.894C>G
 dbSNP
3g.43577076G=CA1360853201ANO10c.778C= (p.Leu260=)
c.593-2212C= (n.593-2212C=)
c.580C= (p.Leu194=)
c.473-11349C= (n.473-11349C=)
c.445C= (p.Leu149=)
n.894C=
3g.43577076G>TCA352343975ANO10c.778C>A (p.Leu260Met)
c.593-2212C>A (n.593-2212C>A)
c.580C>A (p.Leu194Met)
c.473-11349C>A (n.473-11349C>A)
c.445C>A (p.Leu149Met)
n.894C>A
3g.43577077T>ACA352343976ANO10c.777A>T (p.Glu259Asp)
c.593-2213A>T (n.593-2213A>T)
c.579A>T (p.Glu193Asp)
c.473-11350A>T (n.473-11350A>T)
c.444A>T (p.Glu148Asp)
n.893A>T
3g.43577077T>CCA433573824ANO10c.777A>G (p.Glu259=)
c.593-2213A>G (n.593-2213A>G)
c.579A>G (p.Glu193=)
c.473-11350A>G (n.473-11350A>G)
c.444A>G (p.Glu148=)
n.893A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.43577077T>GCA352343977ANO10c.777A>C (p.Glu259Asp)
c.593-2213A>C (n.593-2213A>C)
c.579A>C (p.Glu193Asp)
c.473-11350A>C (n.473-11350A>C)
c.444A>C (p.Glu148Asp)
n.893A>C
3g.43577077T=CA1360853202ANO10c.777A= (p.Glu259=)
c.593-2213A= (n.593-2213A=)
c.579A= (p.Glu193=)
c.473-11350A= (n.473-11350A=)
c.444A= (p.Glu148=)
n.893A=
3g.43577078T>ACA352343978ANO10c.776A>T (p.Glu259Val)
c.593-2214A>T (n.593-2214A>T)
c.578A>T (p.Glu193Val)
c.473-11351A>T (n.473-11351A>T)
c.443A>T (p.Glu148Val)
n.892A>T
3g.43577078T>CCA352343979ANO10c.776A>G (p.Glu259Gly)
c.593-2214A>G (n.593-2214A>G)
c.578A>G (p.Glu193Gly)
c.473-11351A>G (n.473-11351A>G)
c.443A>G (p.Glu148Gly)
n.892A>G
 dbSNP gnomAD v4
3g.43577078T>GCA352343980ANO10c.776A>C (p.Glu259Ala)
c.593-2214A>C (n.593-2214A>C)
c.578A>C (p.Glu193Ala)
c.473-11351A>C (n.473-11351A>C)
c.443A>C (p.Glu148Ala)
n.892A>C
3g.43577078T=CA1360853203ANO10c.776A= (p.Glu259=)
c.593-2214A= (n.593-2214A=)
c.578A= (p.Glu193=)
c.473-11351A= (n.473-11351A=)
c.443A= (p.Glu148=)
n.892A=
3g.43577079C>ACA352343981ANO10c.775G>T (p.Glu259Ter)
c.593-2215G>T (n.593-2215G>T)
c.577G>T (p.Glu193Ter)
c.473-11352G>T (n.473-11352G>T)
c.442G>T (p.Glu148Ter)
n.891G>T
 gnomAD v4
3g.43577079C>GCA352343982ANO10c.775G>C (p.Glu259Gln)
c.593-2215G>C (n.593-2215G>C)
c.577G>C (p.Glu193Gln)
c.473-11352G>C (n.473-11352G>C)
c.442G>C (p.Glu148Gln)
n.891G>C
 gnomAD v4
3g.43577079C>TCA352343983ANO10c.775G>A (p.Glu259Lys)
c.593-2215G>A (n.593-2215G>A)
c.577G>A (p.Glu193Lys)
c.473-11352G>A (n.473-11352G>A)
c.442G>A (p.Glu148Lys)
n.891G>A
3g.43577080C>ACA433573830ANO10c.774G>T (p.Leu258=)
c.593-2216G>T (n.593-2216G>T)
c.576G>T (p.Leu192=)
c.473-11353G>T (n.473-11353G>T)
c.441G>T (p.Leu147=)
n.890G>T
3g.43577080C>GCA433573881ANO10c.774G>C (p.Leu258=)
c.593-2216G>C (n.593-2216G>C)
c.576G>C (p.Leu192=)
c.473-11353G>C (n.473-11353G>C)
c.441G>C (p.Leu147=)
n.890G>C
3g.43577080C>TCA433573882ANO10c.774G>A (p.Leu258=)
c.593-2216G>A (n.593-2216G>A)
c.576G>A (p.Leu192=)
c.473-11353G>A (n.473-11353G>A)
c.441G>A (p.Leu147=)
n.890G>A
3g.43577081A=CA1360853204ANO10c.773T= (p.Leu258=)
c.593-2217T= (n.593-2217T=)
c.575T= (p.Leu192=)
c.473-11354T= (n.473-11354T=)
c.440T= (p.Leu147=)
n.889T=
3g.43577081A>CCA352343985ANO10c.773T>G (p.Leu258Arg)
c.593-2217T>G (n.593-2217T>G)
c.575T>G (p.Leu192Arg)
c.473-11354T>G (n.473-11354T>G)
c.440T>G (p.Leu147Arg)
n.889T>G
 gnomAD v4
3g.43577081A>GCA352343986ANO10c.773T>C (p.Leu258Pro)
c.593-2217T>C (n.593-2217T>C)
c.575T>C (p.Leu192Pro)
c.473-11354T>C (n.473-11354T>C)
c.440T>C (p.Leu147Pro)
n.889T>C
 dbSNP
3g.43577081A>TCA352343984ANO10c.773T>A (p.Leu258Gln)
c.593-2217T>A (n.593-2217T>A)
c.575T>A (p.Leu192Gln)
c.473-11354T>A (n.473-11354T>A)
c.440T>A (p.Leu147Gln)
n.889T>A
3g.43577082G>ACA433573883ANO10c.772C>T (p.Leu258=)
c.593-2218C>T (n.593-2218C>T)
c.574C>T (p.Leu192=)
c.473-11355C>T (n.473-11355C>T)
c.439C>T (p.Leu147=)
n.888C>T
3g.43577082G>CCA352343987ANO10c.772C>G (p.Leu258Val)
c.593-2218C>G (n.593-2218C>G)
c.574C>G (p.Leu192Val)
c.473-11355C>G (n.473-11355C>G)
c.439C>G (p.Leu147Val)
n.888C>G
3g.43577082G=CA1360853205ANO10c.772C= (p.Leu258=)
c.593-2218C= (n.593-2218C=)
c.574C= (p.Leu192=)
c.473-11355C= (n.473-11355C=)
c.439C= (p.Leu147=)
n.888C=
3g.43577082G>TCA2340950ANO10c.772C>A (p.Leu258Met)
c.593-2218C>A (n.593-2218C>A)
c.574C>A (p.Leu192Met)
c.473-11355C>A (n.473-11355C>A)
c.439C>A (p.Leu147Met)
n.888C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.43577083A>CCA352343988ANO10c.771T>G (p.Ile257Met)
c.593-2219T>G (n.593-2219T>G)
c.573T>G (p.Ile191Met)
c.473-11356T>G (n.473-11356T>G)
c.438T>G (p.Ile146Met)
n.887T>G
 gnomAD v4
3g.43577083A>GCA433573886ANO10c.771T>C (p.Ile257=)
c.593-2219T>C (n.593-2219T>C)
c.573T>C (p.Ile191=)
c.473-11356T>C (n.473-11356T>C)
c.438T>C (p.Ile146=)
n.887T>C
3g.43577083A>TCA433573885ANO10c.771T>A (p.Ile257=)
c.593-2219T>A (n.593-2219T>A)
c.573T>A (p.Ile191=)
c.473-11356T>A (n.473-11356T>A)
c.438T>A (p.Ile146=)
n.887T>A
3g.43577084A>CCA352343989ANO10c.770T>G (p.Ile257Ser)
c.593-2220T>G (n.593-2220T>G)
c.572T>G (p.Ile191Ser)
c.473-11357T>G (n.473-11357T>G)
c.437T>G (p.Ile146Ser)
n.886T>G
3g.43577084A>GCA352343990ANO10c.770T>C (p.Ile257Thr)
c.593-2220T>C (n.593-2220T>C)
c.572T>C (p.Ile191Thr)
c.473-11357T>C (n.473-11357T>C)
c.437T>C (p.Ile146Thr)
n.886T>C
3g.43577084A>TCA352343991ANO10c.770T>A (p.Ile257Asn)
c.593-2220T>A (n.593-2220T>A)
c.572T>A (p.Ile191Asn)
c.473-11357T>A (n.473-11357T>A)
c.437T>A (p.Ile146Asn)
n.886T>A
3g.43577085T>ACA352343992ANO10c.769A>T (p.Ile257Phe)
c.593-2221A>T (n.593-2221A>T)
c.571A>T (p.Ile191Phe)
c.473-11358A>T (n.473-11358A>T)
c.436A>T (p.Ile146Phe)
n.885A>T
 dbSNP gnomAD v2
3g.43577085T>CCA352343993ANO10c.769A>G (p.Ile257Val)
c.593-2221A>G (n.593-2221A>G)
c.571A>G (p.Ile191Val)
c.473-11358A>G (n.473-11358A>G)
c.436A>G (p.Ile146Val)
n.885A>G
3g.43577085T>GCA352343994ANO10c.769A>C (p.Ile257Leu)
c.593-2221A>C (n.593-2221A>C)
c.571A>C (p.Ile191Leu)
c.473-11358A>C (n.473-11358A>C)
c.436A>C (p.Ile146Leu)
n.885A>C
3g.43577085T=CA1360853206ANO10c.769A= (p.Ile257=)
c.593-2221A= (n.593-2221A=)
c.571A= (p.Ile191=)
c.473-11358A= (n.473-11358A=)
c.436A= (p.Ile146=)
n.885A=
3g.43577086C>ACA433573898ANO10c.768G>T (p.Val256=)
c.593-2222G>T (n.593-2222G>T)
c.570G>T (p.Val190=)
c.473-11359G>T (n.473-11359G>T)
c.435G>T (p.Val145=)
n.884G>T
3g.43577086C>GCA433573897ANO10c.768G>C (p.Val256=)
c.593-2222G>C (n.593-2222G>C)
c.570G>C (p.Val190=)
c.473-11359G>C (n.473-11359G>C)
c.435G>C (p.Val145=)
n.884G>C
3g.43577086C>TCA433573895ANO10c.768G>A (p.Val256=)
c.593-2222G>A (n.593-2222G>A)
c.570G>A (p.Val190=)
c.473-11359G>A (n.473-11359G>A)
c.435G>A (p.Val145=)
n.884G>A
3g.43577087A>CCA352343995ANO10c.767T>G (p.Val256Gly)
c.593-2223T>G (n.593-2223T>G)
c.569T>G (p.Val190Gly)
c.473-11360T>G (n.473-11360T>G)
c.434T>G (p.Val145Gly)
n.883T>G
3g.43577087A>GCA352343996ANO10c.767T>C (p.Val256Ala)
c.593-2223T>C (n.593-2223T>C)
c.569T>C (p.Val190Ala)
c.473-11360T>C (n.473-11360T>C)
c.434T>C (p.Val145Ala)
n.883T>C
 gnomAD v4
3g.43577087A>TCA352343997ANO10c.767T>A (p.Val256Glu)
c.593-2223T>A (n.593-2223T>A)
c.569T>A (p.Val190Glu)
c.473-11360T>A (n.473-11360T>A)
c.434T>A (p.Val145Glu)
n.883T>A
3g.43577088C>ACA352343999ANO10c.766G>T (p.Val256Leu)
c.593-2224G>T (n.593-2224G>T)
c.568G>T (p.Val190Leu)
c.473-11361G>T (n.473-11361G>T)
c.433G>T (p.Val145Leu)
n.882G>T
3g.43577088C>GCA352344000ANO10c.766G>C (p.Val256Leu)
c.593-2224G>C (n.593-2224G>C)
c.568G>C (p.Val190Leu)
c.473-11361G>C (n.473-11361G>C)
c.433G>C (p.Val145Leu)
n.882G>C
3g.43577088C>TCA352343998ANO10c.766G>A (p.Val256Met)
c.593-2224G>A (n.593-2224G>A)
c.568G>A (p.Val190Met)
c.473-11361G>A (n.473-11361G>A)
c.433G>A (p.Val145Met)
n.882G>A
3g.43577089C>ACA433573907ANO10c.765G>T (p.Thr255=)
c.593-2225G>T (n.593-2225G>T)
c.567G>T (p.Thr189=)
c.473-11362G>T (n.473-11362G>T)
c.432G>T (p.Thr144=)
n.881G>T
3g.43577089C=CA1360853207ANO10c.765G= (p.Thr255=)
c.593-2225G= (n.593-2225G=)
c.567G= (p.Thr189=)
c.473-11362G= (n.473-11362G=)
c.432G= (p.Thr144=)
n.881G=
3g.43577089C>GCA433573910ANO10c.765G>C (p.Thr255=)
c.593-2225G>C (n.593-2225G>C)
c.567G>C (p.Thr189=)
c.473-11362G>C (n.473-11362G>C)
c.432G>C (p.Thr144=)
n.881G>C
3g.43577089C>TCA2340951ANO10c.765G>A (p.Thr255=)
c.593-2225G>A (n.593-2225G>A)
c.567G>A (p.Thr189=)
c.473-11362G>A (n.473-11362G>A)
c.432G>A (p.Thr144=)
n.881G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.43577090G>ACA2340952ANO10c.764C>T (p.Thr255Met)
c.593-2226C>T (n.593-2226C>T)
c.566C>T (p.Thr189Met)
c.473-11363C>T (n.473-11363C>T)
c.431C>T (p.Thr144Met)
n.880C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.43577090G>CCA352344001ANO10c.764C>G (p.Thr255Arg)
c.593-2226C>G (n.593-2226C>G)
c.566C>G (p.Thr189Arg)
c.473-11363C>G (n.473-11363C>G)
c.431C>G (p.Thr144Arg)
n.880C>G
3g.43577090G=CA1360853208ANO10c.764C= (p.Thr255=)
c.593-2226C= (n.593-2226C=)
c.566C= (p.Thr189=)
c.473-11363C= (n.473-11363C=)
c.431C= (p.Thr144=)
n.880C=
3g.43577090G>TCA352344002ANO10c.764C>A (p.Thr255Lys)
c.593-2226C>A (n.593-2226C>A)
c.566C>A (p.Thr189Lys)
c.473-11363C>A (n.473-11363C>A)
c.431C>A (p.Thr144Lys)
n.880C>A
3g.43577091T>ACA352344005ANO10c.763A>T (p.Thr255Ser)
c.593-2227A>T (n.593-2227A>T)
c.565A>T (p.Thr189Ser)
c.473-11364A>T (n.473-11364A>T)
c.430A>T (p.Thr144Ser)
n.879A>T
3g.43577091T>CCA352344004ANO10c.763A>G (p.Thr255Ala)
c.593-2227A>G (n.593-2227A>G)
c.565A>G (p.Thr189Ala)
c.473-11364A>G (n.473-11364A>G)
c.430A>G (p.Thr144Ala)
n.879A>G
 gnomAD v4
3g.43577091T>GCA352344003ANO10c.763A>C (p.Thr255Pro)
c.593-2227A>C (n.593-2227A>C)
c.565A>C (p.Thr189Pro)
c.473-11364A>C (n.473-11364A>C)
c.430A>C (p.Thr144Pro)
n.879A>C
3g.43577092G>ACA433574175ANO10c.762C>T (p.Ser254=)
c.593-2228C>T (n.593-2228C>T)
c.564C>T (p.Ser188=)
c.473-11365C>T (n.473-11365C>T)
c.429C>T (p.Ser143=)
n.878C>T
 dbSNP gnomAD v4
3g.43577092G>CCA433574177ANO10c.762C>G (p.Ser254=)
c.593-2228C>G (n.593-2228C>G)
c.564C>G (p.Ser188=)
c.473-11365C>G (n.473-11365C>G)
c.429C>G (p.Ser143=)
n.878C>G
3g.43577092G=CA1360853209ANO10c.762C= (p.Ser254=)
c.593-2228C= (n.593-2228C=)
c.564C= (p.Ser188=)
c.473-11365C= (n.473-11365C=)
c.429C= (p.Ser143=)
n.878C=
3g.43577092G>TCA433574179ANO10c.762C>A (p.Ser254=)
c.593-2228C>A (n.593-2228C>A)
c.564C>A (p.Ser188=)
c.473-11365C>A (n.473-11365C>A)
c.429C>A (p.Ser143=)
n.878C>A
3g.43577093G>ACA352344006ANO10c.761C>T (p.Ser254Phe)
c.593-2229C>T (n.593-2229C>T)
c.563C>T (p.Ser188Phe)
c.473-11366C>T (n.473-11366C>T)
c.428C>T (p.Ser143Phe)
n.877C>T
3g.43577093G>CCA352344007ANO10c.761C>G (p.Ser254Cys)
c.593-2229C>G (n.593-2229C>G)
c.563C>G (p.Ser188Cys)
c.473-11366C>G (n.473-11366C>G)
c.428C>G (p.Ser143Cys)
n.877C>G
3g.43577093G>TCA352344008ANO10c.761C>A (p.Ser254Tyr)
c.593-2229C>A (n.593-2229C>A)
c.563C>A (p.Ser188Tyr)
c.473-11366C>A (n.473-11366C>A)
c.428C>A (p.Ser143Tyr)
n.877C>A
3g.43577094A>CCA352344009ANO10c.760T>G (p.Ser254Ala)
c.593-2230T>G (n.593-2230T>G)
c.562T>G (p.Ser188Ala)
c.473-11367T>G (n.473-11367T>G)
c.427T>G (p.Ser143Ala)
n.876T>G
3g.43577094A>GCA352344010ANO10c.760T>C (p.Ser254Pro)
c.593-2230T>C (n.593-2230T>C)
c.562T>C (p.Ser188Pro)
c.473-11367T>C (n.473-11367T>C)
c.427T>C (p.Ser143Pro)
n.876T>C
3g.43577094A>TCA352344011ANO10c.760T>A (p.Ser254Thr)
c.593-2230T>A (n.593-2230T>A)
c.562T>A (p.Ser188Thr)
c.473-11367T>A (n.473-11367T>A)
c.427T>A (p.Ser143Thr)
n.876T>A
3g.43577095C>ACA352344014ANO10c.759G>T (p.Trp253Cys)
c.593-2231G>T (n.593-2231G>T)
c.561G>T (p.Trp187Cys)
c.473-11368G>T (n.473-11368G>T)
c.426G>T (p.Trp142Cys)
n.875G>T
 COSMIC
3g.43577095C>GCA352344013ANO10c.759G>C (p.Trp253Cys)
c.593-2231G>C (n.593-2231G>C)
c.561G>C (p.Trp187Cys)
c.473-11368G>C (n.473-11368G>C)
c.426G>C (p.Trp142Cys)
n.875G>C
3g.43577095C>TCA352344012ANO10c.759G>A (p.Trp253Ter)
c.593-2231G>A (n.593-2231G>A)
c.561G>A (p.Trp187Ter)
c.473-11368G>A (n.473-11368G>A)
c.426G>A (p.Trp142Ter)
n.875G>A
3g.43577096C>ACA352344015ANO10c.758G>T (p.Trp253Leu)
c.593-2232G>T (n.593-2232G>T)
c.560G>T (p.Trp187Leu)
c.473-11369G>T (n.473-11369G>T)
c.425G>T (p.Trp142Leu)
n.874G>T
3g.43577096C=CA1360853210ANO10c.758G= (p.Trp253=)
c.593-2232G= (n.593-2232G=)
c.560G= (p.Trp187=)
c.473-11369G= (n.473-11369G=)
c.425G= (p.Trp142=)
n.874G=
3g.43577096C>GCA352344017ANO10c.758G>C (p.Trp253Ser)
c.593-2232G>C (n.593-2232G>C)
c.560G>C (p.Trp187Ser)
c.473-11369G>C (n.473-11369G>C)
c.425G>C (p.Trp142Ser)
n.874G>C
3g.43577096C>TCA352344016ANO10c.758G>A (p.Trp253Ter)
c.593-2232G>A (n.593-2232G>A)
c.560G>A (p.Trp187Ter)
c.473-11369G>A (n.473-11369G>A)
c.425G>A (p.Trp142Ter)
n.874G>A
 ClinVar dbSNP gnomAD v4
3g.43577097A>CCA352344018ANO10c.757T>G (p.Trp253Gly)
c.593-2233T>G (n.593-2233T>G)
c.559T>G (p.Trp187Gly)
c.473-11370T>G (n.473-11370T>G)
c.424T>G (p.Trp142Gly)
n.873T>G
3g.43577097A>GCA352344019ANO10c.757T>C (p.Trp253Arg)
c.593-2233T>C (n.593-2233T>C)
c.559T>C (p.Trp187Arg)
c.473-11370T>C (n.473-11370T>C)
c.424T>C (p.Trp142Arg)
n.873T>C
 gnomAD v4
3g.43577097A>TCA352344020ANO10c.757T>A (p.Trp253Arg)
c.593-2233T>A (n.593-2233T>A)
c.559T>A (p.Trp187Arg)
c.473-11370T>A (n.473-11370T>A)
c.424T>A (p.Trp142Arg)
n.873T>A
3g.43577098G>ACA74378021ANO10c.756C>T (p.Ile252=)
c.593-2234C>T (n.593-2234C>T)
c.558C>T (p.Ile186=)
c.473-11371C>T (n.473-11371C>T)
c.423C>T (p.Ile141=)
n.872C>T
 dbSNP
3g.43577098G>CCA2340953ANO10c.756C>G (p.Ile252Met)
c.593-2234C>G (n.593-2234C>G)
c.558C>G (p.Ile186Met)
c.473-11371C>G (n.473-11371C>G)
c.423C>G (p.Ile141Met)
n.872C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.43577098G=CA1360853211ANO10c.756C= (p.Ile252=)
c.593-2234C= (n.593-2234C=)
c.558C= (p.Ile186=)
c.473-11371C= (n.473-11371C=)
c.423C= (p.Ile141=)
n.872C=
3g.43577098G>TCA433574194ANO10c.756C>A (p.Ile252=)
c.593-2234C>A (n.593-2234C>A)
c.558C>A (p.Ile186=)
c.473-11371C>A (n.473-11371C>A)
c.423C>A (p.Ile141=)
n.872C>A
3g.43577099A>CCA352344021ANO10c.755T>G (p.Ile252Ser)
c.593-2235T>G (n.593-2235T>G)
c.557T>G (p.Ile186Ser)
c.473-11372T>G (n.473-11372T>G)
c.422T>G (p.Ile141Ser)
n.871T>G
3g.43577099A>GCA352344022ANO10c.755T>C (p.Ile252Thr)
c.593-2235T>C (n.593-2235T>C)
c.557T>C (p.Ile186Thr)
c.473-11372T>C (n.473-11372T>C)
c.422T>C (p.Ile141Thr)
n.871T>C
3g.43577099A>TCA352344023ANO10c.755T>A (p.Ile252Asn)
c.593-2235T>A (n.593-2235T>A)
c.557T>A (p.Ile186Asn)
c.473-11372T>A (n.473-11372T>A)
c.422T>A (p.Ile141Asn)
n.871T>A
3g.43577100T>ACA352344024ANO10c.754A>T (p.Ile252Phe)
c.593-2236A>T (n.593-2236A>T)
c.556A>T (p.Ile186Phe)
c.473-11373A>T (n.473-11373A>T)
c.421A>T (p.Ile141Phe)
n.870A>T
3g.43577100T>CCA352344026ANO10c.754A>G (p.Ile252Val)
c.593-2236A>G (n.593-2236A>G)
c.556A>G (p.Ile186Val)
c.473-11373A>G (n.473-11373A>G)
c.421A>G (p.Ile141Val)
n.870A>G
3g.43577100T>GCA352344025ANO10c.754A>C (p.Ile252Leu)
c.593-2236A>C (n.593-2236A>C)
c.556A>C (p.Ile186Leu)
c.473-11373A>C (n.473-11373A>C)
c.421A>C (p.Ile141Leu)
n.870A>C
3g.43577101G>ACA2340954ANO10c.753C>T (p.Leu251=)
c.593-2237C>T (n.593-2237C>T)
c.555C>T (p.Leu185=)
c.473-11374C>T (n.473-11374C>T)
c.420C>T (p.Leu140=)
n.869C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.43577101G>CCA433574201ANO10c.753C>G (p.Leu251=)
c.593-2237C>G (n.593-2237C>G)
c.555C>G (p.Leu185=)
c.473-11374C>G (n.473-11374C>G)
c.420C>G (p.Leu140=)
n.869C>G
3g.43577101G=CA1360853212ANO10c.753C= (p.Leu251=)
c.593-2237C= (n.593-2237C=)
c.555C= (p.Leu185=)
c.473-11374C= (n.473-11374C=)
c.420C= (p.Leu140=)
n.869C=
3g.43577101G>TCA433574203ANO10c.753C>A (p.Leu251=)
c.593-2237C>A (n.593-2237C>A)
c.555C>A (p.Leu185=)
c.473-11374C>A (n.473-11374C>A)
c.420C>A (p.Leu140=)
n.869C>A
3g.43577102A>CCA352344027ANO10c.752T>G (p.Leu251Arg)
c.593-2238T>G (n.593-2238T>G)
c.554T>G (p.Leu185Arg)
c.473-11375T>G (n.473-11375T>G)
c.419T>G (p.Leu140Arg)
n.868T>G
3g.43577102A>GCA352344028ANO10c.752T>C (p.Leu251Pro)
c.593-2238T>C (n.593-2238T>C)
c.554T>C (p.Leu185Pro)
c.473-11375T>C (n.473-11375T>C)
c.419T>C (p.Leu140Pro)
n.868T>C
3g.43577102A>TCA352344029ANO10c.752T>A (p.Leu251His)
c.593-2238T>A (n.593-2238T>A)
c.554T>A (p.Leu185His)
c.473-11375T>A (n.473-11375T>A)
c.419T>A (p.Leu140His)
n.868T>A
3g.43577102_43577103delinsAGCA1360853213ANO10c.751_752delinsCT (p.Leu251=)
c.593-2239_593-2238delinsCT (n.593-2239_593-2238delinsCT)
c.553_554delinsCT (p.Leu185=)
c.473-11376_473-11375delinsCT (n.473-11376_473-11375delinsCT)
c.418_419delinsCT (p.Leu140=)
n.867_868delinsCT
3g.43577103G>ACA352344032ANO10c.751C>T (p.Leu251Phe)
c.593-2239C>T (n.593-2239C>T)
c.553C>T (p.Leu185Phe)
c.473-11376C>T (n.473-11376C>T)
c.418C>T (p.Leu140Phe)
n.867C>T
3g.43577103G>CCA352344030ANO10c.751C>G (p.Leu251Val)
c.593-2239C>G (n.593-2239C>G)
c.553C>G (p.Leu185Val)
c.473-11376C>G (n.473-11376C>G)
c.418C>G (p.Leu140Val)
n.867C>G
3g.43577103G>TCA352344031ANO10c.751C>A (p.Leu251Ile)
c.593-2239C>A (n.593-2239C>A)
c.553C>A (p.Leu185Ile)
c.473-11376C>A (n.473-11376C>A)
c.418C>A (p.Leu140Ile)
n.867C>A
3g.43577104delCA2340955ANO10c.751del (p.Leu251SerfsTer6)
c.593-2239del (n.593-2239del)
c.553del (p.Leu185SerfsTer6)
c.473-11376del (n.473-11376del)
c.418del (p.Leu140SerfsTer6)
n.867del
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.43577104G>ACA2340956ANO10c.750C>T (p.Asn250=)
c.593-2240C>T (n.593-2240C>T)
c.552C>T (p.Asn184=)
c.473-11377C>T (n.473-11377C>T)
c.417C>T (p.Asn139=)
n.866C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.43577104G>CCA352344033ANO10c.750C>G (p.Asn250Lys)
c.593-2240C>G (n.593-2240C>G)
c.552C>G (p.Asn184Lys)
c.473-11377C>G (n.473-11377C>G)
c.417C>G (p.Asn139Lys)
n.866C>G
3g.43577104G=CA1360853214ANO10c.750C= (p.Asn250=)
c.593-2240C= (n.593-2240C=)
c.552C= (p.Asn184=)
c.473-11377C= (n.473-11377C=)
c.417C= (p.Asn139=)
n.866C=
3g.43577104G>TCA352344034ANO10c.750C>A (p.Asn250Lys)
c.593-2240C>A (n.593-2240C>A)
c.552C>A (p.Asn184Lys)
c.473-11377C>A (n.473-11377C>A)
c.417C>A (p.Asn139Lys)
n.866C>A
 dbSNP gnomAD v2 gnomAD v4
3g.43577105T>ACA352344035ANO10c.749A>T (p.Asn250Ile)
c.593-2241A>T (n.593-2241A>T)
c.551A>T (p.Asn184Ile)
c.473-11378A>T (n.473-11378A>T)
c.416A>T (p.Asn139Ile)
n.865A>T
 gnomAD v4
3g.43577105T>CCA352344036ANO10c.749A>G (p.Asn250Ser)
c.593-2241A>G (n.593-2241A>G)
c.551A>G (p.Asn184Ser)
c.473-11378A>G (n.473-11378A>G)
c.416A>G (p.Asn139Ser)
n.865A>G
 dbSNP
3g.43577105T>GCA352344037ANO10c.749A>C (p.Asn250Thr)
c.593-2241A>C (n.593-2241A>C)
c.551A>C (p.Asn184Thr)
c.473-11378A>C (n.473-11378A>C)
c.416A>C (p.Asn139Thr)
n.865A>C
3g.43577105T=CA1360853215ANO10c.749A= (p.Asn250=)
c.593-2241A= (n.593-2241A=)
c.551A= (p.Asn184=)
c.473-11378A= (n.473-11378A=)
c.416A= (p.Asn139=)
n.865A=
3g.43577106T>ACA352344038ANO10c.748A>T (p.Asn250Tyr)
c.593-2242A>T (n.593-2242A>T)
c.550A>T (p.Asn184Tyr)
c.473-11379A>T (n.473-11379A>T)
c.415A>T (p.Asn139Tyr)
n.864A>T
 gnomAD v4
3g.43577106T>CCA352344039ANO10c.748A>G (p.Asn250Asp)
c.593-2242A>G (n.593-2242A>G)
c.550A>G (p.Asn184Asp)
c.473-11379A>G (n.473-11379A>G)
c.415A>G (p.Asn139Asp)
n.864A>G
3g.43577106T>GCA352344040ANO10c.748A>C (p.Asn250His)
c.593-2242A>C (n.593-2242A>C)
c.550A>C (p.Asn184His)
c.473-11379A>C (n.473-11379A>C)
c.415A>C (p.Asn139His)
n.864A>C
3g.43577107G>ACA433574219ANO10c.747C>T (p.Phe249=)
c.593-2243C>T (n.593-2243C>T)
c.549C>T (p.Phe183=)
c.473-11380C>T (n.473-11380C>T)
c.414C>T (p.Phe138=)
n.863C>T
3g.43577107G>CCA352344041ANO10c.747C>G (p.Phe249Leu)
c.593-2243C>G (n.593-2243C>G)
c.549C>G (p.Phe183Leu)
c.473-11380C>G (n.473-11380C>G)
c.414C>G (p.Phe138Leu)
n.863C>G
3g.43577107G>TCA352344042ANO10c.747C>A (p.Phe249Leu)
c.593-2243C>A (n.593-2243C>A)
c.549C>A (p.Phe183Leu)
c.473-11380C>A (n.473-11380C>A)
c.414C>A (p.Phe138Leu)
n.863C>A
3g.43577108A>CCA352344043ANO10c.746T>G (p.Phe249Cys)
c.593-2244T>G (n.593-2244T>G)
c.548T>G (p.Phe183Cys)
c.473-11381T>G (n.473-11381T>G)
c.413T>G (p.Phe138Cys)
n.862T>G
3g.43577108A>GCA352344045ANO10c.746T>C (p.Phe249Ser)
c.593-2244T>C (n.593-2244T>C)
c.548T>C (p.Phe183Ser)
c.473-11381T>C (n.473-11381T>C)
c.413T>C (p.Phe138Ser)
n.862T>C
3g.43577108A>TCA352344044ANO10c.746T>A (p.Phe249Tyr)
c.593-2244T>A (n.593-2244T>A)
c.548T>A (p.Phe183Tyr)
c.473-11381T>A (n.473-11381T>A)
c.413T>A (p.Phe138Tyr)
n.862T>A
3g.43577109A=CA1360853216ANO10c.745T= (p.Phe249=)
c.593-2245T= (n.593-2245T=)
c.547T= (p.Phe183=)
c.473-11382T= (n.473-11382T=)
c.412T= (p.Phe138=)
n.861T=
3g.43577109A>CCA352344046ANO10c.745T>G (p.Phe249Val)
c.593-2245T>G (n.593-2245T>G)
c.547T>G (p.Phe183Val)
c.473-11382T>G (n.473-11382T>G)
c.412T>G (p.Phe138Val)
n.861T>G
3g.43577109A>GCA352344047ANO10c.745T>C (p.Phe249Leu)
c.593-2245T>C (n.593-2245T>C)
c.547T>C (p.Phe183Leu)
c.473-11382T>C (n.473-11382T>C)
c.412T>C (p.Phe138Leu)
n.861T>C
3g.43577109A>TCA352344048ANO10c.745T>A (p.Phe249Ile)
c.593-2245T>A (n.593-2245T>A)
c.547T>A (p.Phe183Ile)
c.473-11382T>A (n.473-11382T>A)
c.412T>A (p.Phe138Ile)
n.861T>A
3g.43577110C>ACA433574227ANO10c.744G>T (p.Ser248=)
c.593-2246G>T (n.593-2246G>T)
c.546G>T (p.Ser182=)
c.473-11383G>T (n.473-11383G>T)
c.411G>T (p.Ser137=)
n.860G>T
3g.43577110C=CA1360853217ANO10c.744G= (p.Ser248=)
c.593-2246G= (n.593-2246G=)
c.546G= (p.Ser182=)
c.473-11383G= (n.473-11383G=)
c.411G= (p.Ser137=)
n.860G=
3g.43577110C>GCA433574230ANO10c.744G>C (p.Ser248=)
c.593-2246G>C (n.593-2246G>C)
c.546G>C (p.Ser182=)
c.473-11383G>C (n.473-11383G>C)
c.411G>C (p.Ser137=)
n.860G>C
 gnomAD v4
3g.43577110C>TCA2340958ANO10c.744G>A (p.Ser248=)
c.593-2246G>A (n.593-2246G>A)
c.546G>A (p.Ser182=)
c.473-11383G>A (n.473-11383G>A)
c.411G>A (p.Ser137=)
n.860G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.43577110_43577111insCCTCCA2340957ANO10c.744_745insAGGG (p.Phe249ArgfsTer?)
c.593-2246_593-2245insAGGG (n.593-2246_593-2245insAGGG)
c.546_547insAGGG (p.Phe183ArgfsTer?)
c.473-11383_473-11382insAGGG (n.473-11383_473-11382insAGGG)
c.411_412insAGGG (p.Phe138ArgfsTer?)
n.860_861insAGGG
 dbSNP ExAC gnomAD v2
3g.43577111G>ACA2340959ANO10c.743C>T (p.Ser248Leu)
c.593-2247C>T (n.593-2247C>T)
c.545C>T (p.Ser182Leu)
c.473-11384C>T (n.473-11384C>T)
c.410C>T (p.Ser137Leu)
n.859C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.43577111G>CCA352344049ANO10c.743C>G (p.Ser248Trp)
c.593-2247C>G (n.593-2247C>G)
c.545C>G (p.Ser182Trp)
c.473-11384C>G (n.473-11384C>G)
c.410C>G (p.Ser137Trp)
n.859C>G
3g.43577111G=CA1360853218ANO10c.743C= (p.Ser248=)
c.593-2247C= (n.593-2247C=)
c.545C= (p.Ser182=)
c.473-11384C= (n.473-11384C=)
c.410C= (p.Ser137=)
n.859C=
3g.43577111G>TCA352344050ANO10c.743C>A (p.Ser248Ter)
c.593-2247C>A (n.593-2247C>A)
c.545C>A (p.Ser182Ter)
c.473-11384C>A (n.473-11384C>A)
c.410C>A (p.Ser137Ter)
n.859C>A
3g.43577112A>CCA352344051ANO10c.742T>G (p.Ser248Ala)
c.593-2248T>G (n.593-2248T>G)
c.544T>G (p.Ser182Ala)
c.473-11385T>G (n.473-11385T>G)
c.409T>G (p.Ser137Ala)
n.858T>G
3g.43577112A>GCA352344052ANO10c.742T>C (p.Ser248Pro)
c.593-2248T>C (n.593-2248T>C)
c.544T>C (p.Ser182Pro)
c.473-11385T>C (n.473-11385T>C)
c.409T>C (p.Ser137Pro)
n.858T>C
3g.43577112A>TCA352344053ANO10c.742T>A (p.Ser248Thr)
c.593-2248T>A (n.593-2248T>A)
c.544T>A (p.Ser182Thr)
c.473-11385T>A (n.473-11385T>A)
c.409T>A (p.Ser137Thr)
n.858T>A
3g.43577113G>ACA2340960ANO10c.741C>T (p.Ala247=)
c.593-2249C>T (n.593-2249C>T)
c.543C>T (p.Ala181=)
c.473-11386C>T (n.473-11386C>T)
c.408C>T (p.Ala136=)
n.857C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.43577113G>CCA433574240ANO10c.741C>G (p.Ala247=)
c.593-2249C>G (n.593-2249C>G)
c.543C>G (p.Ala181=)
c.473-11386C>G (n.473-11386C>G)
c.408C>G (p.Ala136=)
n.857C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.43577113G=CA1360853219ANO10c.741C= (p.Ala247=)
c.593-2249C= (n.593-2249C=)
c.543C= (p.Ala181=)
c.473-11386C= (n.473-11386C=)
c.408C= (p.Ala136=)
n.857C=
3g.43577113G>TCA433574242ANO10c.741C>A (p.Ala247=)
c.593-2249C>A (n.593-2249C>A)
c.543C>A (p.Ala181=)
c.473-11386C>A (n.473-11386C>A)
c.408C>A (p.Ala136=)
n.857C>A
3g.43577114G>ACA2340961ANO10c.740C>T (p.Ala247Val)
c.593-2250C>T (n.593-2250C>T)
c.542C>T (p.Ala181Val)
c.473-11387C>T (n.473-11387C>T)
c.407C>T (p.Ala136Val)
n.856C>T
 dbSNP ExAC gnomAD v4
3g.43577114G>CCA352344054ANO10c.740C>G (p.Ala247Gly)
c.593-2250C>G (n.593-2250C>G)
c.542C>G (p.Ala181Gly)
c.473-11387C>G (n.473-11387C>G)
c.407C>G (p.Ala136Gly)
n.856C>G
3g.43577114G=CA1360853220ANO10c.740C= (p.Ala247=)
c.593-2250C= (n.593-2250C=)
c.542C= (p.Ala181=)
c.473-11387C= (n.473-11387C=)
c.407C= (p.Ala136=)
n.856C=
3g.43577114G>TCA352344055ANO10c.740C>A (p.Ala247Asp)
c.593-2250C>A (n.593-2250C>A)
c.542C>A (p.Ala181Asp)
c.473-11387C>A (n.473-11387C>A)
c.407C>A (p.Ala136Asp)
n.856C>A
3g.43577115C>ACA352344056ANO10c.739G>T (p.Ala247Ser)
c.593-2251G>T (n.593-2251G>T)
c.541G>T (p.Ala181Ser)
c.473-11388G>T (n.473-11388G>T)
c.406G>T (p.Ala136Ser)
n.855G>T
3g.43577115C>GCA352344057ANO10c.739G>C (p.Ala247Pro)
c.593-2251G>C (n.593-2251G>C)
c.541G>C (p.Ala181Pro)
c.473-11388G>C (n.473-11388G>C)
c.406G>C (p.Ala136Pro)
n.855G>C
3g.43577115C>TCA352344058ANO10c.739G>A (p.Ala247Thr)
c.593-2251G>A (n.593-2251G>A)
c.541G>A (p.Ala181Thr)
c.473-11388G>A (n.473-11388G>A)
c.406G>A (p.Ala136Thr)
n.855G>A
3g.43577116A=CA1360853221ANO10c.738T= (p.Phe246=)
c.593-2252T= (n.593-2252T=)
c.540T= (p.Phe180=)
c.473-11389T= (n.473-11389T=)
c.405T= (p.Phe135=)
n.854T=
3g.43577116A>CCA352344059ANO10c.738T>G (p.Phe246Leu)
c.593-2252T>G (n.593-2252T>G)
c.540T>G (p.Phe180Leu)
c.473-11389T>G (n.473-11389T>G)
c.405T>G (p.Phe135Leu)
n.854T>G
3g.43577116A>GCA2340962ANO10c.738T>C (p.Phe246=)
c.593-2252T>C (n.593-2252T>C)
c.540T>C (p.Phe180=)
c.473-11389T>C (n.473-11389T>C)
c.405T>C (p.Phe135=)
n.854T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.43577116A>TCA352344060ANO10c.738T>A (p.Phe246Leu)
c.593-2252T>A (n.593-2252T>A)
c.540T>A (p.Phe180Leu)
c.473-11389T>A (n.473-11389T>A)
c.405T>A (p.Phe135Leu)
n.854T>A
3g.43577117A>CCA352344061ANO10c.737T>G (p.Phe246Cys)
c.593-2253T>G (n.593-2253T>G)
c.539T>G (p.Phe180Cys)
c.473-11390T>G (n.473-11390T>G)
c.404T>G (p.Phe135Cys)
n.853T>G
3g.43577117A>GCA352344062ANO10c.737T>C (p.Phe246Ser)
c.593-2253T>C (n.593-2253T>C)
c.539T>C (p.Phe180Ser)
c.473-11390T>C (n.473-11390T>C)
c.404T>C (p.Phe135Ser)
n.853T>C
3g.43577117A>TCA352344063ANO10c.737T>A (p.Phe246Tyr)
c.593-2253T>A (n.593-2253T>A)
c.539T>A (p.Phe180Tyr)
c.473-11390T>A (n.473-11390T>A)
c.404T>A (p.Phe135Tyr)
n.853T>A
3g.43577118A>CCA352344064ANO10c.736T>G (p.Phe246Val)
c.593-2254T>G (n.593-2254T>G)
c.538T>G (p.Phe180Val)
c.473-11391T>G (n.473-11391T>G)
c.403T>G (p.Phe135Val)
n.852T>G
3g.43577118A>GCA352344065ANO10c.736T>C (p.Phe246Leu)
c.593-2254T>C (n.593-2254T>C)
c.538T>C (p.Phe180Leu)
c.473-11391T>C (n.473-11391T>C)
c.403T>C (p.Phe135Leu)
n.852T>C
3g.43577118A>TCA352344066ANO10c.736T>A (p.Phe246Ile)
c.593-2254T>A (n.593-2254T>A)
c.538T>A (p.Phe180Ile)
c.473-11391T>A (n.473-11391T>A)
c.403T>A (p.Phe135Ile)
n.852T>A
3g.43577119G>ACA433574259ANO10c.735C>T (p.Ile245=)
c.593-2255C>T (n.593-2255C>T)
c.537C>T (p.Ile179=)
c.473-11392C>T (n.473-11392C>T)
c.402C>T (p.Ile134=)
n.851C>T
 dbSNP
3g.43577119G>CCA352344067ANO10c.735C>G (p.Ile245Met)
c.593-2255C>G (n.593-2255C>G)
c.537C>G (p.Ile179Met)
c.473-11392C>G (n.473-11392C>G)
c.402C>G (p.Ile134Met)
n.851C>G
 COSMIC
3g.43577119G=CA1360853222ANO10c.735C= (p.Ile245=)
c.593-2255C= (n.593-2255C=)
c.537C= (p.Ile179=)
c.473-11392C= (n.473-11392C=)
c.402C= (p.Ile134=)
n.851C=
3g.43577119G>TCA433574257ANO10c.735C>A (p.Ile245=)
c.593-2255C>A (n.593-2255C>A)
c.537C>A (p.Ile179=)
c.473-11392C>A (n.473-11392C>A)
c.402C>A (p.Ile134=)
n.851C>A
3g.43577120A>CCA352344070ANO10c.734T>G (p.Ile245Ser)
c.593-2256T>G (n.593-2256T>G)
c.536T>G (p.Ile179Ser)
c.473-11393T>G (n.473-11393T>G)
c.401T>G (p.Ile134Ser)
n.850T>G
3g.43577120A>GCA352344068ANO10c.734T>C (p.Ile245Thr)
c.593-2256T>C (n.593-2256T>C)
c.536T>C (p.Ile179Thr)
c.473-11393T>C (n.473-11393T>C)
c.401T>C (p.Ile134Thr)
n.850T>C
3g.43577120A>TCA352344069ANO10c.734T>A (p.Ile245Asn)
c.593-2256T>A (n.593-2256T>A)
c.536T>A (p.Ile179Asn)
c.473-11393T>A (n.473-11393T>A)
c.401T>A (p.Ile134Asn)
n.850T>A
3g.43577121T>ACA352344071ANO10c.733A>T (p.Ile245Phe)
c.593-2257A>T (n.593-2257A>T)
c.535A>T (p.Ile179Phe)
c.473-11394A>T (n.473-11394A>T)
c.400A>T (p.Ile134Phe)
n.849A>T
 gnomAD v4
3g.43577121T>CCA352344072ANO10c.733A>G (p.Ile245Val)
c.593-2257A>G (n.593-2257A>G)
c.535A>G (p.Ile179Val)
c.473-11394A>G (n.473-11394A>G)
c.400A>G (p.Ile134Val)
n.849A>G
3g.43577121T>GCA352344073ANO10c.733A>C (p.Ile245Leu)
c.593-2257A>C (n.593-2257A>C)
c.535A>C (p.Ile179Leu)
c.473-11394A>C (n.473-11394A>C)
c.400A>C (p.Ile134Leu)
n.849A>C
 gnomAD v4
3g.43577122C>ACA433574265ANO10c.732G>T (p.Val244=)
c.593-2258G>T (n.593-2258G>T)
c.534G>T (p.Val178=)
c.473-11395G>T (n.473-11395G>T)
c.399G>T (p.Val133=)
n.848G>T
3g.43577122C=CA1360853223ANO10c.732G= (p.Val244=)
c.593-2258G= (n.593-2258G=)
c.534G= (p.Val178=)
c.473-11395G= (n.473-11395G=)
c.399G= (p.Val133=)
n.848G=
3g.43577122C>GCA433574267ANO10c.732G>C (p.Val244=)
c.593-2258G>C (n.593-2258G>C)
c.534G>C (p.Val178=)
c.473-11395G>C (n.473-11395G>C)
c.399G>C (p.Val133=)
n.848G>C
3g.43577122C>TCA2340963ANO10c.732G>A (p.Val244=)
c.593-2258G>A (n.593-2258G>A)
c.534G>A (p.Val178=)
c.473-11395G>A (n.473-11395G>A)
c.399G>A (p.Val133=)
n.848G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.43577123A>CCA352344076ANO10c.731T>G (p.Val244Gly)
c.593-2259T>G (n.593-2259T>G)
c.533T>G (p.Val178Gly)
c.473-11396T>G (n.473-11396T>G)
c.398T>G (p.Val133Gly)
n.847T>G
3g.43577123A>GCA352344074ANO10c.731T>C (p.Val244Ala)
c.593-2259T>C (n.593-2259T>C)
c.533T>C (p.Val178Ala)
c.473-11396T>C (n.473-11396T>C)
c.398T>C (p.Val133Ala)
n.847T>C
3g.43577123A>TCA352344075ANO10c.731T>A (p.Val244Glu)
c.593-2259T>A (n.593-2259T>A)
c.533T>A (p.Val178Glu)
c.473-11396T>A (n.473-11396T>A)
c.398T>A (p.Val133Glu)
n.847T>A
3g.43577124C>ACA2340964ANO10c.730G>T (p.Val244Leu)
c.593-2260G>T (n.593-2260G>T)
c.532G>T (p.Val178Leu)
c.473-11397G>T (n.473-11397G>T)
c.397G>T (p.Val133Leu)
n.846G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.43577124C=CA1360853224ANO10c.730G= (p.Val244=)
c.593-2260G= (n.593-2260G=)
c.532G= (p.Val178=)
c.473-11397G= (n.473-11397G=)
c.397G= (p.Val133=)
n.846G=
3g.43577124C>GCA352344077ANO10c.730G>C (p.Val244Leu)
c.593-2260G>C (n.593-2260G>C)
c.532G>C (p.Val178Leu)
c.473-11397G>C (n.473-11397G>C)
c.397G>C (p.Val133Leu)
n.846G>C
3g.43577124C>TCA2340965ANO10c.730G>A (p.Val244Met)
c.593-2260G>A (n.593-2260G>A)
c.532G>A (p.Val178Met)
c.473-11397G>A (n.473-11397G>A)
c.397G>A (p.Val133Met)
n.846G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.43577125G>ACA433574278ANO10c.729C>T (p.Tyr243=)
c.593-2261C>T (n.593-2261C>T)
c.531C>T (p.Tyr177=)
c.473-11398C>T (n.473-11398C>T)
c.396C>T (p.Tyr132=)
n.845C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.43577125G>CCA352344078ANO10c.729C>G (p.Tyr243Ter)
c.593-2261C>G (n.593-2261C>G)
c.531C>G (p.Tyr177Ter)
c.473-11398C>G (n.473-11398C>G)
c.396C>G (p.Tyr132Ter)
n.845C>G
3g.43577125G=CA1360853225ANO10c.729C= (p.Tyr243=)
c.593-2261C= (n.593-2261C=)
c.531C= (p.Tyr177=)
c.473-11398C= (n.473-11398C=)
c.396C= (p.Tyr132=)
n.845C=
3g.43577125G>TCA352344079ANO10c.729C>A (p.Tyr243Ter)
c.593-2261C>A (n.593-2261C>A)
c.531C>A (p.Tyr177Ter)
c.473-11398C>A (n.473-11398C>A)
c.396C>A (p.Tyr132Ter)
n.845C>A
 gnomAD v4
3g.43577126T>ACA352344082ANO10c.728A>T (p.Tyr243Phe)
c.593-2262A>T (n.593-2262A>T)
c.530A>T (p.Tyr177Phe)
c.473-11399A>T (n.473-11399A>T)
c.395A>T (p.Tyr132Phe)
n.844A>T
3g.43577126T>CCA352344080ANO10c.728A>G (p.Tyr243Cys)
c.593-2262A>G (n.593-2262A>G)
c.530A>G (p.Tyr177Cys)
c.473-11399A>G (n.473-11399A>G)
c.395A>G (p.Tyr132Cys)
n.844A>G
3g.43577126T>GCA352344081ANO10c.728A>C (p.Tyr243Ser)
c.593-2262A>C (n.593-2262A>C)
c.530A>C (p.Tyr177Ser)
c.473-11399A>C (n.473-11399A>C)
c.395A>C (p.Tyr132Ser)
n.844A>C
3g.43577127A>CCA352344083ANO10c.727T>G (p.Tyr243Asp)
c.593-2263T>G (n.593-2263T>G)
c.529T>G (p.Tyr177Asp)
c.473-11400T>G (n.473-11400T>G)
c.394T>G (p.Tyr132Asp)
n.843T>G
3g.43577127A>GCA352344084ANO10c.727T>C (p.Tyr243His)
c.593-2263T>C (n.593-2263T>C)
c.529T>C (p.Tyr177His)
c.473-11400T>C (n.473-11400T>C)
c.394T>C (p.Tyr132His)
n.843T>C
3g.43577127A>TCA352344085ANO10c.727T>A (p.Tyr243Asn)
c.593-2263T>A (n.593-2263T>A)
c.529T>A (p.Tyr177Asn)
c.473-11400T>A (n.473-11400T>A)
c.394T>A (p.Tyr132Asn)
n.843T>A
3g.43577128C>ACA352344086ANO10c.726G>T (p.Lys242Asn)
c.593-2264G>T (n.593-2264G>T)
c.528G>T (p.Lys176Asn)
c.473-11401G>T (n.473-11401G>T)
c.393G>T (p.Lys131Asn)
n.842G>T
3g.43577128C=CA1360853226ANO10c.726G= (p.Lys242=)
c.593-2264G= (n.593-2264G=)
c.528G= (p.Lys176=)
c.473-11401G= (n.473-11401G=)
c.393G= (p.Lys131=)
n.842G=
3g.43577128C>GCA352344087ANO10c.726G>C (p.Lys242Asn)
c.593-2264G>C (n.593-2264G>C)
c.528G>C (p.Lys176Asn)
c.473-11401G>C (n.473-11401G>C)
c.393G>C (p.Lys131Asn)
n.842G>C
 dbSNP
3g.43577128C>TCA433574287ANO10c.726G>A (p.Lys242=)
c.593-2264G>A (n.593-2264G>A)
c.528G>A (p.Lys176=)
c.473-11401G>A (n.473-11401G>A)
c.393G>A (p.Lys131=)
n.842G>A
 dbSNP gnomAD v3 gnomAD v4
3g.43577129T>ACA352344088ANO10c.725A>T (p.Lys242Met)
c.593-2265A>T (n.593-2265A>T)
c.527A>T (p.Lys176Met)
c.473-11402A>T (n.473-11402A>T)
c.392A>T (p.Lys131Met)
n.841A>T
3g.43577129T>CCA352344089ANO10c.725A>G (p.Lys242Arg)
c.593-2265A>G (n.593-2265A>G)
c.527A>G (p.Lys176Arg)
c.473-11402A>G (n.473-11402A>G)
c.392A>G (p.Lys131Arg)
n.841A>G
3g.43577129T>GCA352344090ANO10c.725A>C (p.Lys242Thr)
c.593-2265A>C (n.593-2265A>C)
c.527A>C (p.Lys176Thr)
c.473-11402A>C (n.473-11402A>C)
c.392A>C (p.Lys131Thr)
n.841A>C
3g.43577130T>ACA352344091ANO10c.724A>T (p.Lys242Ter)
c.593-2266A>T (n.593-2266A>T)
c.526A>T (p.Lys176Ter)
c.473-11403A>T (n.473-11403A>T)
c.391A>T (p.Lys131Ter)
n.840A>T
3g.43577130T>CCA352344092ANO10c.724A>G (p.Lys242Glu)
c.593-2266A>G (n.593-2266A>G)
c.526A>G (p.Lys176Glu)
c.473-11403A>G (n.473-11403A>G)
c.391A>G (p.Lys131Glu)
n.840A>G
 gnomAD v4
3g.43577130T>GCA352344093ANO10c.724A>C (p.Lys242Gln)
c.593-2266A>C (n.593-2266A>C)
c.526A>C (p.Lys176Gln)
c.473-11403A>C (n.473-11403A>C)
c.391A>C (p.Lys131Gln)
n.840A>C
3g.43577131G>ACA433574296ANO10c.723C>T (p.Asp241=)
c.593-2267C>T (n.593-2267C>T)
c.525C>T (p.Asp175=)
c.473-11404C>T (n.473-11404C>T)
c.390C>T (p.Asp130=)
n.839C>T
3g.43577131G>CCA352344094ANO10c.723C>G (p.Asp241Glu)
c.593-2267C>G (n.593-2267C>G)
c.525C>G (p.Asp175Glu)
c.473-11404C>G (n.473-11404C>G)
c.390C>G (p.Asp130Glu)
n.839C>G
3g.43577131G>TCA352344095ANO10c.723C>A (p.Asp241Glu)
c.593-2267C>A (n.593-2267C>A)
c.525C>A (p.Asp175Glu)
c.473-11404C>A (n.473-11404C>A)
c.390C>A (p.Asp130Glu)
n.839C>A
3g.43577132T>ACA352344096ANO10c.722A>T (p.Asp241Val)
c.593-2268A>T (n.593-2268A>T)
c.524A>T (p.Asp175Val)
c.473-11405A>T (n.473-11405A>T)
c.389A>T (p.Asp130Val)
n.838A>T
3g.43577132T>CCA352344098ANO10c.722A>G (p.Asp241Gly)
c.593-2268A>G (n.593-2268A>G)
c.524A>G (p.Asp175Gly)
c.473-11405A>G (n.473-11405A>G)
c.389A>G (p.Asp130Gly)
n.838A>G
3g.43577132T>GCA352344097ANO10c.722A>C (p.Asp241Ala)
c.593-2268A>C (n.593-2268A>C)
c.524A>C (p.Asp175Ala)
c.473-11405A>C (n.473-11405A>C)
c.389A>C (p.Asp130Ala)
n.838A>C
 gnomAD v4
3g.43577133C>ACA352344099ANO10c.721G>T (p.Asp241Tyr)
c.593-2269G>T (n.593-2269G>T)
c.523G>T (p.Asp175Tyr)
c.473-11406G>T (n.473-11406G>T)
c.388G>T (p.Asp130Tyr)
n.837G>T
3g.43577133C=CA1360853227ANO10c.721G= (p.Asp241=)
c.593-2269G= (n.593-2269G=)
c.523G= (p.Asp175=)
c.473-11406G= (n.473-11406G=)
c.388G= (p.Asp130=)
n.837G=
3g.43577133C>GCA352344100ANO10c.721G>C (p.Asp241His)
c.593-2269G>C (n.593-2269G>C)
c.523G>C (p.Asp175His)
c.473-11406G>C (n.473-11406G>C)
c.388G>C (p.Asp130His)
n.837G>C
3g.43577133C>TCA352344101ANO10c.721G>A (p.Asp241Asn)
c.593-2269G>A (n.593-2269G>A)
c.523G>A (p.Asp175Asn)
c.473-11406G>A (n.473-11406G>A)
c.388G>A (p.Asp130Asn)
n.837G>A
 dbSNP gnomAD v2 gnomAD v4
3g.43577134A=CA1360853228ANO10c.720T= (p.Tyr240=)
c.593-2270T= (n.593-2270T=)
c.522T= (p.Tyr174=)
c.473-11407T= (n.473-11407T=)
c.387T= (p.Tyr129=)
n.836T=
3g.43577134A>CCA352344102ANO10c.720T>G (p.Tyr240Ter)
c.593-2270T>G (n.593-2270T>G)
c.522T>G (p.Tyr174Ter)
c.473-11407T>G (n.473-11407T>G)
c.387T>G (p.Tyr129Ter)
n.836T>G
3g.43577134A>GCA433574307ANO10c.720T>C (p.Tyr240=)
c.593-2270T>C (n.593-2270T>C)
c.522T>C (p.Tyr174=)
c.473-11407T>C (n.473-11407T>C)
c.387T>C (p.Tyr129=)
n.836T>C
 dbSNP
3g.43577134A>TCA352344103ANO10c.720T>A (p.Tyr240Ter)
c.593-2270T>A (n.593-2270T>A)
c.522T>A (p.Tyr174Ter)
c.473-11407T>A (n.473-11407T>A)
c.387T>A (p.Tyr129Ter)
n.836T>A
3g.43577135T>ACA352344104ANO10c.719A>T (p.Tyr240Phe)
c.593-2271A>T (n.593-2271A>T)
c.521A>T (p.Tyr174Phe)
c.473-11408A>T (n.473-11408A>T)
c.386A>T (p.Tyr129Phe)
n.835A>T
 gnomAD v4
3g.43577135T>CCA352344105ANO10c.719A>G (p.Tyr240Cys)
c.593-2271A>G (n.593-2271A>G)
c.521A>G (p.Tyr174Cys)
c.473-11408A>G (n.473-11408A>G)
c.386A>G (p.Tyr129Cys)
n.835A>G
 dbSNP gnomAD v3 gnomAD v4
3g.43577135T>GCA352344106ANO10c.719A>C (p.Tyr240Ser)
c.593-2271A>C (n.593-2271A>C)
c.521A>C (p.Tyr174Ser)
c.473-11408A>C (n.473-11408A>C)
c.386A>C (p.Tyr129Ser)
n.835A>C
3g.43577135T=CA1360853229ANO10c.719A= (p.Tyr240=)
c.593-2271A= (n.593-2271A=)
c.521A= (p.Tyr174=)
c.473-11408A= (n.473-11408A=)
c.386A= (p.Tyr129=)
n.835A=
3g.43577136A>CCA352344107ANO10c.718T>G (p.Tyr240Asp)
c.593-2272T>G (n.593-2272T>G)
c.520T>G (p.Tyr174Asp)
c.473-11409T>G (n.473-11409T>G)
c.385T>G (p.Tyr129Asp)
n.834T>G
3g.43577136A>GCA352344108ANO10c.718T>C (p.Tyr240His)
c.593-2272T>C (n.593-2272T>C)
c.520T>C (p.Tyr174His)
c.473-11409T>C (n.473-11409T>C)
c.385T>C (p.Tyr129His)
n.834T>C
3g.43577136A>TCA352344109ANO10c.718T>A (p.Tyr240Asn)
c.593-2272T>A (n.593-2272T>A)
c.520T>A (p.Tyr174Asn)
c.473-11409T>A (n.473-11409T>A)
c.385T>A (p.Tyr129Asn)
n.834T>A
3g.43577137G>ACA433574316ANO10c.717C>T (p.Asp239=)
c.593-2273C>T (n.593-2273C>T)
c.519C>T (p.Asp173=)
c.473-11410C>T (n.473-11410C>T)
c.384C>T (p.Asp128=)
n.833C>T
 dbSNP gnomAD v3 gnomAD v4
3g.43577137G>CCA352344110ANO10c.717C>G (p.Asp239Glu)
c.593-2273C>G (n.593-2273C>G)
c.519C>G (p.Asp173Glu)
c.473-11410C>G (n.473-11410C>G)
c.384C>G (p.Asp128Glu)
n.833C>G
3g.43577137G>TCA352344111ANO10c.717C>A (p.Asp239Glu)
c.593-2273C>A (n.593-2273C>A)
c.519C>A (p.Asp173Glu)
c.473-11410C>A (n.473-11410C>A)
c.384C>A (p.Asp128Glu)
n.833C>A
3g.43577138T>ACA352344112ANO10c.716A>T (p.Asp239Val)
c.593-2274A>T (n.593-2274A>T)
c.518A>T (p.Asp173Val)
c.473-11411A>T (n.473-11411A>T)
c.383A>T (p.Asp128Val)
n.832A>T
3g.43577138T>CCA352344114ANO10c.716A>G (p.Asp239Gly)
c.593-2274A>G (n.593-2274A>G)
c.518A>G (p.Asp173Gly)
c.473-11411A>G (n.473-11411A>G)
c.383A>G (p.Asp128Gly)
n.832A>G
 dbSNP
3g.43577138T>GCA352344113ANO10c.716A>C (p.Asp239Ala)
c.593-2274A>C (n.593-2274A>C)
c.518A>C (p.Asp173Ala)
c.473-11411A>C (n.473-11411A>C)
c.383A>C (p.Asp128Ala)
n.832A>C
3g.43577138T=CA1360853230ANO10c.716A= (p.Asp239=)
c.593-2274A= (n.593-2274A=)
c.518A= (p.Asp173=)
c.473-11411A= (n.473-11411A=)
c.383A= (p.Asp128=)
n.832A=
3g.43577139C>ACA352344115ANO10c.715G>T (p.Asp239Tyr)
c.593-2275G>T (n.593-2275G>T)
c.517G>T (p.Asp173Tyr)
c.473-11412G>T (n.473-11412G>T)
c.382G>T (p.Asp128Tyr)
n.831G>T
3g.43577139C>GCA352344116ANO10c.715G>C (p.Asp239His)
c.593-2275G>C (n.593-2275G>C)
c.517G>C (p.Asp173His)
c.473-11412G>C (n.473-11412G>C)
c.382G>C (p.Asp128His)
n.831G>C
3g.43577139C>TCA352344117ANO10c.715G>A (p.Asp239Asn)
c.593-2275G>A (n.593-2275G>A)
c.517G>A (p.Asp173Asn)
c.473-11412G>A (n.473-11412G>A)
c.382G>A (p.Asp128Asn)
n.831G>A
3g.43577140T>ACA352344118ANO10c.714A>T (p.Glu238Asp)
c.593-2276A>T (n.593-2276A>T)
c.516A>T (p.Glu172Asp)
c.473-11413A>T (n.473-11413A>T)
c.381A>T (p.Glu127Asp)
n.830A>T
3g.43577140T>CCA433574323ANO10c.714A>G (p.Glu238=)
c.593-2276A>G (n.593-2276A>G)
c.516A>G (p.Glu172=)
c.473-11413A>G (n.473-11413A>G)
c.381A>G (p.Glu127=)
n.830A>G
 dbSNP
3g.43577140T>GCA352344119ANO10c.714A>C (p.Glu238Asp)
c.593-2276A>C (n.593-2276A>C)
c.516A>C (p.Glu172Asp)
c.473-11413A>C (n.473-11413A>C)
c.381A>C (p.Glu127Asp)
n.830A>C
3g.43577140T=CA1360853231ANO10c.714A= (p.Glu238=)
c.593-2276A= (n.593-2276A=)
c.516A= (p.Glu172=)
c.473-11413A= (n.473-11413A=)
c.381A= (p.Glu127=)
n.830A=
3g.43577141T>ACA352344120ANO10c.713A>T (p.Glu238Val)
c.593-2277A>T (n.593-2277A>T)
c.515A>T (p.Glu172Val)
c.473-11414A>T (n.473-11414A>T)
c.380A>T (p.Glu127Val)
n.829A>T
3g.43577141T>CCA352344121ANO10c.713A>G (p.Glu238Gly)
c.593-2277A>G (n.593-2277A>G)
c.515A>G (p.Glu172Gly)
c.473-11414A>G (n.473-11414A>G)
c.380A>G (p.Glu127Gly)
n.829A>G
 dbSNP gnomAD v2
3g.43577141T>GCA352344122ANO10c.713A>C (p.Glu238Ala)
c.593-2277A>C (n.593-2277A>C)
c.515A>C (p.Glu172Ala)
c.473-11414A>C (n.473-11414A>C)
c.380A>C (p.Glu127Ala)
n.829A>C
3g.43577141T=CA1360853232ANO10c.713A= (p.Glu238=)
c.593-2277A= (n.593-2277A=)
c.515A= (p.Glu172=)
c.473-11414A= (n.473-11414A=)
c.380A= (p.Glu127=)
n.829A=
3g.43577142C>ACA352344123ANO10c.712G>T (p.Glu238Ter)
c.593-2278G>T (n.593-2278G>T)
c.514G>T (p.Glu172Ter)
c.473-11415G>T (n.473-11415G>T)
c.379G>T (p.Glu127Ter)
n.828G>T
3g.43577142C>GCA352344124ANO10c.712G>C (p.Glu238Gln)
c.593-2278G>C (n.593-2278G>C)
c.514G>C (p.Glu172Gln)
c.473-11415G>C (n.473-11415G>C)
c.379G>C (p.Glu127Gln)
n.828G>C
 ClinVar gnomAD v4
3g.43577142C>TCA352344125ANO10c.712G>A (p.Glu238Lys)
c.593-2278G>A (n.593-2278G>A)
c.514G>A (p.Glu172Lys)
c.473-11415G>A (n.473-11415G>A)
c.379G>A (p.Glu127Lys)
n.828G>A
3g.43577143C>ACA352344127ANO10c.711G>T (p.Trp237Cys)
c.593-2279G>T (n.593-2279G>T)
c.513G>T (p.Trp171Cys)
c.473-11416G>T (n.473-11416G>T)
c.378G>T (p.Trp126Cys)
n.827G>T
3g.43577143C>GCA352344128ANO10c.711G>C (p.Trp237Cys)
c.593-2279G>C (n.593-2279G>C)
c.513G>C (p.Trp171Cys)
c.473-11416G>C (n.473-11416G>C)
c.378G>C (p.Trp126Cys)
n.827G>C
3g.43577143C>TCA352344126ANO10c.711G>A (p.Trp237Ter)
c.593-2279G>A (n.593-2279G>A)
c.513G>A (p.Trp171Ter)
c.473-11416G>A (n.473-11416G>A)
c.378G>A (p.Trp126Ter)
n.827G>A
3g.43577144C>ACA352344130ANO10c.710G>T (p.Trp237Leu)
c.593-2280G>T (n.593-2280G>T)
c.512G>T (p.Trp171Leu)
c.473-11417G>T (n.473-11417G>T)
c.377G>T (p.Trp126Leu)
n.826G>T
3g.43577144C=CA1360853233ANO10c.710G= (p.Trp237=)
c.593-2280G= (n.593-2280G=)
c.512G= (p.Trp171=)
c.473-11417G= (n.473-11417G=)
c.377G= (p.Trp126=)
n.826G=
3g.43577144C>GCA352344129ANO10c.710G>C (p.Trp237Ser)
c.593-2280G>C (n.593-2280G>C)
c.512G>C (p.Trp171Ser)
c.473-11417G>C (n.473-11417G>C)
c.377G>C (p.Trp126Ser)
n.826G>C
 gnomAD v4
3g.43577144C>TCA352344131ANO10c.710G>A (p.Trp237Ter)
c.593-2280G>A (n.593-2280G>A)
c.512G>A (p.Trp171Ter)
c.473-11417G>A (n.473-11417G>A)
c.377G>A (p.Trp126Ter)
n.826G>A
 ClinVar dbSNP
3g.43577146_43577149delCA2665304692ANO10c.707_710del (p.Val236GlyfsTer8)
c.593-2283_593-2280del (n.593-2283_593-2280del)
c.509_512del (p.Val170GlyfsTer8)
c.473-11420_473-11417del (n.473-11420_473-11417del)
c.374_377del (p.Val125GlyfsTer8)
n.823_826del
 gnomAD v4
3g.43577145A>CCA352344132ANO10c.709T>G (p.Trp237Gly)
c.593-2281T>G (n.593-2281T>G)
c.511T>G (p.Trp171Gly)
c.473-11418T>G (n.473-11418T>G)
c.376T>G (p.Trp126Gly)
n.825T>G
3g.43577145A>GCA352344134ANO10c.709T>C (p.Trp237Arg)
c.593-2281T>C (n.593-2281T>C)
c.511T>C (p.Trp171Arg)
c.473-11418T>C (n.473-11418T>C)
c.376T>C (p.Trp126Arg)
n.825T>C
3g.43577145A>TCA352344133ANO10c.709T>A (p.Trp237Arg)
c.593-2281T>A (n.593-2281T>A)
c.511T>A (p.Trp171Arg)
c.473-11418T>A (n.473-11418T>A)
c.376T>A (p.Trp126Arg)
n.825T>A
3g.43577146C>ACA433574337ANO10c.708G>T (p.Val236=)
c.593-2282G>T (n.593-2282G>T)
c.510G>T (p.Val170=)
c.473-11419G>T (n.473-11419G>T)
c.375G>T (p.Val125=)
n.824G>T
3g.43577146C>GCA433574338ANO10c.708G>C (p.Val236=)
c.593-2282G>C (n.593-2282G>C)
c.510G>C (p.Val170=)
c.473-11419G>C (n.473-11419G>C)
c.375G>C (p.Val125=)
n.824G>C
3g.43577146C>TCA433574335ANO10c.708G>A (p.Val236=)
c.593-2282G>A (n.593-2282G>A)
c.510G>A (p.Val170=)
c.473-11419G>A (n.473-11419G>A)
c.375G>A (p.Val125=)
n.824G>A
 gnomAD v4
3g.43577147A=CA1360853234ANO10c.707T= (p.Val236=)
c.593-2283T= (n.593-2283T=)
c.509T= (p.Val170=)
c.473-11420T= (n.473-11420T=)
c.374T= (p.Val125=)
n.823T=
3g.43577147A>CCA352344135ANO10c.707T>G (p.Val236Gly)
c.593-2283T>G (n.593-2283T>G)
c.509T>G (p.Val170Gly)
c.473-11420T>G (n.473-11420T>G)
c.374T>G (p.Val125Gly)
n.823T>G
3g.43577147A>GCA74378022ANO10c.707T>C (p.Val236Ala)
c.593-2283T>C (n.593-2283T>C)
c.509T>C (p.Val170Ala)
c.473-11420T>C (n.473-11420T>C)
c.374T>C (p.Val125Ala)
n.823T>C
 dbSNP
3g.43577147A>TCA352344136ANO10c.707T>A (p.Val236Glu)
c.593-2283T>A (n.593-2283T>A)
c.509T>A (p.Val170Glu)
c.473-11420T>A (n.473-11420T>A)
c.374T>A (p.Val125Glu)
n.823T>A
3g.43577148C>ACA2340966ANO10c.706G>T (p.Val236Leu)
c.593-2284G>T (n.593-2284G>T)
c.508G>T (p.Val170Leu)
c.473-11421G>T (n.473-11421G>T)
c.373G>T (p.Val125Leu)
n.822G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.43577148C=CA1360853235ANO10c.706G= (p.Val236=)
c.593-2284G= (n.593-2284G=)
c.508G= (p.Val170=)
c.473-11421G= (n.473-11421G=)
c.373G= (p.Val125=)
n.822G=
3g.43577148C>GCA2340967ANO10c.706G>C (p.Val236Leu)
c.593-2284G>C (n.593-2284G>C)
c.508G>C (p.Val170Leu)
c.473-11421G>C (n.473-11421G>C)
c.373G>C (p.Val125Leu)
n.822G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.43577148C>TCA352344137ANO10c.706G>A (p.Val236Met)
c.593-2284G>A (n.593-2284G>A)
c.508G>A (p.Val170Met)
c.473-11421G>A (n.473-11421G>A)
c.373G>A (p.Val125Met)
n.822G>A
 dbSNP gnomAD v3 gnomAD v4
3g.43577149A>CCA352344138ANO10c.705T>G (p.Phe235Leu)
c.593-2285T>G (n.593-2285T>G)
c.507T>G (p.Phe169Leu)
c.473-11422T>G (n.473-11422T>G)
c.372T>G (p.Phe124Leu)
n.821T>G
3g.43577149A>GCA433574349ANO10c.705T>C (p.Phe235=)
c.593-2285T>C (n.593-2285T>C)
c.507T>C (p.Phe169=)
c.473-11422T>C (n.473-11422T>C)
c.372T>C (p.Phe124=)
n.821T>C
3g.43577149A>TCA352344139ANO10c.705T>A (p.Phe235Leu)
c.593-2285T>A (n.593-2285T>A)
c.507T>A (p.Phe169Leu)
c.473-11422T>A (n.473-11422T>A)
c.372T>A (p.Phe124Leu)
n.821T>A
3g.43577151dupCA645518651ANO10c.705dup (p.Val236CysfsTer6)
c.593-2285dup (n.593-2285dup)
c.507dup (p.Val170CysfsTer6)
c.473-11422dup (n.473-11422dup)
c.372dup (p.Val125CysfsTer6)
n.821dup
 COSMIC
3g.43577150A>CCA352344140ANO10c.704T>G (p.Phe235Cys)
c.593-2286T>G (n.593-2286T>G)
c.506T>G (p.Phe169Cys)
c.473-11423T>G (n.473-11423T>G)
c.371T>G (p.Phe124Cys)
n.820T>G
3g.43577150A>GCA352344141ANO10c.704T>C (p.Phe235Ser)
c.593-2286T>C (n.593-2286T>C)
c.506T>C (p.Phe169Ser)
c.473-11423T>C (n.473-11423T>C)
c.371T>C (p.Phe124Ser)
n.820T>C
3g.43577150A>TCA352344142ANO10c.704T>A (p.Phe235Tyr)
c.593-2286T>A (n.593-2286T>A)
c.506T>A (p.Phe169Tyr)
c.473-11423T>A (n.473-11423T>A)
c.371T>A (p.Phe124Tyr)
n.820T>A
3g.43577151A>CCA352344143ANO10c.703T>G (p.Phe235Val)
c.593-2287T>G (n.593-2287T>G)
c.505T>G (p.Phe169Val)
c.473-11424T>G (n.473-11424T>G)
c.370T>G (p.Phe124Val)
n.819T>G
3g.43577151A>GCA352344144ANO10c.703T>C (p.Phe235Leu)
c.593-2287T>C (n.593-2287T>C)
c.505T>C (p.Phe169Leu)
c.473-11424T>C (n.473-11424T>C)
c.370T>C (p.Phe124Leu)
n.819T>C
3g.43577151A>TCA352344145ANO10c.703T>A (p.Phe235Ile)
c.593-2287T>A (n.593-2287T>A)
c.505T>A (p.Phe169Ile)
c.473-11424T>A (n.473-11424T>A)
c.370T>A (p.Phe124Ile)
n.819T>A
3g.43577152C>ACA352344146ANO10c.702G>T (p.Leu234Phe)
c.593-2288G>T (n.593-2288G>T)
c.504G>T (p.Leu168Phe)
c.473-11425G>T (n.473-11425G>T)
c.369G>T (p.Leu123Phe)
n.818G>T
3g.43577152C=CA1360853236ANO10c.702G= (p.Leu234=)
c.593-2288G= (n.593-2288G=)
c.504G= (p.Leu168=)
c.473-11425G= (n.473-11425G=)
c.369G= (p.Leu123=)
n.818G=
3g.43577152C>GCA352344147ANO10c.702G>C (p.Leu234Phe)
c.593-2288G>C (n.593-2288G>C)
c.504G>C (p.Leu168Phe)
c.473-11425G>C (n.473-11425G>C)
c.369G>C (p.Leu123Phe)
n.818G>C
3g.43577152C>TCA433574358ANO10c.702G>A (p.Leu234=)
c.593-2288G>A (n.593-2288G>A)
c.504G>A (p.Leu168=)
c.473-11425G>A (n.473-11425G>A)
c.369G>A (p.Leu123=)
n.818G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.43577153A>CCA352344148ANO10c.701T>G (p.Leu234Trp)
c.593-2289T>G (n.593-2289T>G)
c.503T>G (p.Leu168Trp)
c.473-11426T>G (n.473-11426T>G)
c.368T>G (p.Leu123Trp)
n.817T>G
3g.43577153A>GCA352344150ANO10c.701T>C (p.Leu234Ser)
c.593-2289T>C (n.593-2289T>C)
c.503T>C (p.Leu168Ser)
c.473-11426T>C (n.473-11426T>C)
c.368T>C (p.Leu123Ser)
n.817T>C
3g.43577153A>TCA352344149ANO10c.701T>A (p.Leu234Ter)
c.593-2289T>A (n.593-2289T>A)
c.503T>A (p.Leu168Ter)
c.473-11426T>A (n.473-11426T>A)
c.368T>A (p.Leu123Ter)
n.817T>A
3g.43577154A>CCA352344151ANO10c.700T>G (p.Leu234Val)
c.593-2290T>G (n.593-2290T>G)
c.502T>G (p.Leu168Val)
c.473-11427T>G (n.473-11427T>G)
c.367T>G (p.Leu123Val)
n.816T>G
 gnomAD v4
3g.43577154A>GCA433574363ANO10c.700T>C (p.Leu234=)
c.593-2290T>C (n.593-2290T>C)
c.502T>C (p.Leu168=)
c.473-11427T>C (n.473-11427T>C)
c.367T>C (p.Leu123=)
n.816T>C
3g.43577154A>TCA352344152ANO10c.700T>A (p.Leu234Met)
c.593-2290T>A (n.593-2290T>A)
c.502T>A (p.Leu168Met)
c.473-11427T>A (n.473-11427T>A)
c.367T>A (p.Leu123Met)
n.816T>A
3g.43577155G>ACA433574367ANO10c.699C>T (p.Tyr233=)
c.593-2291C>T (n.593-2291C>T)
c.501C>T (p.Tyr167=)
c.473-11428C>T (n.473-11428C>T)
c.366C>T (p.Tyr122=)
n.815C>T
 ClinVar
3g.43577155G>CCA352344153ANO10c.699C>G (p.Tyr233Ter)
c.593-2291C>G (n.593-2291C>G)
c.501C>G (p.Tyr167Ter)
c.473-11428C>G (n.473-11428C>G)
c.366C>G (p.Tyr122Ter)
n.815C>G
3g.43577155G>TCA352344154ANO10c.699C>A (p.Tyr233Ter)
c.593-2291C>A (n.593-2291C>A)
c.501C>A (p.Tyr167Ter)
c.473-11428C>A (n.473-11428C>A)
c.366C>A (p.Tyr122Ter)
n.815C>A
3g.43577156T>ACA352344155ANO10c.698A>T (p.Tyr233Phe)
c.593-2292A>T (n.593-2292A>T)
c.500A>T (p.Tyr167Phe)
c.473-11429A>T (n.473-11429A>T)
c.365A>T (p.Tyr122Phe)
n.814A>T
3g.43577156T>CCA352344156ANO10c.698A>G (p.Tyr233Cys)
c.593-2292A>G (n.593-2292A>G)
c.500A>G (p.Tyr167Cys)
c.473-11429A>G (n.473-11429A>G)
c.365A>G (p.Tyr122Cys)
n.814A>G
 gnomAD v4
3g.43577156T>GCA352344157ANO10c.698A>C (p.Tyr233Ser)
c.593-2292A>C (n.593-2292A>C)
c.500A>C (p.Tyr167Ser)
c.473-11429A>C (n.473-11429A>C)
c.365A>C (p.Tyr122Ser)
n.814A>C
3g.43577157A>CCA352344158ANO10c.697T>G (p.Tyr233Asp)
c.593-2293T>G (n.593-2293T>G)
c.499T>G (p.Tyr167Asp)
c.473-11430T>G (n.473-11430T>G)
c.364T>G (p.Tyr122Asp)
n.813T>G
3g.43577157A>GCA352344159ANO10c.697T>C (p.Tyr233His)
c.593-2293T>C (n.593-2293T>C)
c.499T>C (p.Tyr167His)
c.473-11430T>C (n.473-11430T>C)
c.364T>C (p.Tyr122His)
n.813T>C
3g.43577157A>TCA352344160ANO10c.697T>A (p.Tyr233Asn)
c.593-2293T>A (n.593-2293T>A)
c.499T>A (p.Tyr167Asn)
c.473-11430T>A (n.473-11430T>A)
c.364T>A (p.Tyr122Asn)
n.813T>A
3g.43577158G>ACA433574376ANO10c.696C>T (p.Tyr232=)
c.593-2294C>T (n.593-2294C>T)
c.498C>T (p.Tyr166=)
c.473-11431C>T (n.473-11431C>T)
c.363C>T (p.Tyr121=)
n.812C>T
3g.43577158G>CCA352344161ANO10c.696C>G (p.Tyr232Ter)
c.593-2294C>G (n.593-2294C>G)
c.498C>G (p.Tyr166Ter)
c.473-11431C>G (n.473-11431C>G)
c.363C>G (p.Tyr121Ter)
n.812C>G
3g.43577158G>TCA352344162ANO10c.696C>A (p.Tyr232Ter)
c.593-2294C>A (n.593-2294C>A)
c.498C>A (p.Tyr166Ter)
c.473-11431C>A (n.473-11431C>A)
c.363C>A (p.Tyr121Ter)
n.812C>A
3g.43577159T>ACA352344163ANO10c.695A>T (p.Tyr232Phe)
c.593-2295A>T (n.593-2295A>T)
c.497A>T (p.Tyr166Phe)
c.473-11432A>T (n.473-11432A>T)
c.362A>T (p.Tyr121Phe)
n.811A>T
3g.43577159T>CCA352344164ANO10c.695A>G (p.Tyr232Cys)
c.593-2295A>G (n.593-2295A>G)
c.497A>G (p.Tyr166Cys)
c.473-11432A>G (n.473-11432A>G)
c.362A>G (p.Tyr121Cys)
n.811A>G
3g.43577159T>GCA352344165ANO10c.695A>C (p.Tyr232Ser)
c.593-2295A>C (n.593-2295A>C)
c.497A>C (p.Tyr166Ser)
c.473-11432A>C (n.473-11432A>C)
c.362A>C (p.Tyr121Ser)
n.811A>C
3g.43577160A>CCA352344166ANO10c.694T>G (p.Tyr232Asp)
c.593-2296T>G (n.593-2296T>G)
c.496T>G (p.Tyr166Asp)
c.473-11433T>G (n.473-11433T>G)
c.361T>G (p.Tyr121Asp)
n.810T>G
3g.43577160A>GCA352344167ANO10c.694T>C (p.Tyr232His)
c.593-2296T>C (n.593-2296T>C)
c.496T>C (p.Tyr166His)
c.473-11433T>C (n.473-11433T>C)
c.361T>C (p.Tyr121His)
n.810T>C
3g.43577160A>TCA352344168ANO10c.694T>A (p.Tyr232Asn)
c.593-2296T>A (n.593-2296T>A)
c.496T>A (p.Tyr166Asn)
c.473-11433T>A (n.473-11433T>A)
c.361T>A (p.Tyr121Asn)
n.810T>A
3g.43577161A>CCA433574385ANO10c.693T>G (p.Pro231=)
c.593-2297T>G (n.593-2297T>G)
c.495T>G (p.Pro165=)
c.473-11434T>G (n.473-11434T>G)
c.360T>G (p.Pro120=)
n.809T>G
3g.43577161A>GCA433574386ANO10c.693T>C (p.Pro231=)
c.593-2297T>C (n.593-2297T>C)
c.495T>C (p.Pro165=)
c.473-11434T>C (n.473-11434T>C)
c.360T>C (p.Pro120=)
n.809T>C
 COSMIC
3g.43577161A>TCA433574388ANO10c.693T>A (p.Pro231=)
c.593-2297T>A (n.593-2297T>A)
c.495T>A (p.Pro165=)
c.473-11434T>A (n.473-11434T>A)
c.360T>A (p.Pro120=)
n.809T>A
3g.43577162G>ACA352344169ANO10c.692C>T (p.Pro231Leu)
c.593-2298C>T (n.593-2298C>T)
c.494C>T (p.Pro165Leu)
c.473-11435C>T (n.473-11435C>T)
c.359C>T (p.Pro120Leu)
n.808C>T
3g.43577162G>CCA352344170ANO10c.692C>G (p.Pro231Arg)
c.593-2298C>G (n.593-2298C>G)
c.494C>G (p.Pro165Arg)
c.473-11435C>G (n.473-11435C>G)
c.359C>G (p.Pro120Arg)
n.808C>G
3g.43577162G>TCA352344171ANO10c.692C>A (p.Pro231His)
c.593-2298C>A (n.593-2298C>A)
c.494C>A (p.Pro165His)
c.473-11435C>A (n.473-11435C>A)
c.359C>A (p.Pro120His)
n.808C>A
3g.43577163G>ACA352344172ANO10c.691C>T (p.Pro231Ser)
c.593-2299C>T (n.593-2299C>T)
c.493C>T (p.Pro165Ser)
c.473-11436C>T (n.473-11436C>T)
c.358C>T (p.Pro120Ser)
n.807C>T
 gnomAD v4
3g.43577163G>CCA352344173ANO10c.691C>G (p.Pro231Ala)
c.593-2299C>G (n.593-2299C>G)
c.493C>G (p.Pro165Ala)
c.473-11436C>G (n.473-11436C>G)
c.358C>G (p.Pro120Ala)
n.807C>G
3g.43577163G>TCA352344174ANO10c.691C>A (p.Pro231Thr)
c.593-2299C>A (n.593-2299C>A)
c.493C>A (p.Pro165Thr)
c.473-11436C>A (n.473-11436C>A)
c.358C>A (p.Pro120Thr)
n.807C>A
3g.43577164T>ACA352344176ANO10c.690A>T (p.Leu230Phe)
c.593-2300A>T (n.593-2300A>T)
c.492A>T (p.Leu164Phe)
c.473-11437A>T (n.473-11437A>T)
c.357A>T (p.Leu119Phe)
n.806A>T
3g.43577164T>CCA433574395ANO10c.690A>G (p.Leu230=)
c.593-2300A>G (n.593-2300A>G)
c.492A>G (p.Leu164=)
c.473-11437A>G (n.473-11437A>G)
c.357A>G (p.Leu119=)
n.806A>G
 dbSNP gnomAD v4
3g.43577164T>GCA352344175ANO10c.690A>C (p.Leu230Phe)
c.593-2300A>C (n.593-2300A>C)
c.492A>C (p.Leu164Phe)
c.473-11437A>C (n.473-11437A>C)
c.357A>C (p.Leu119Phe)
n.806A>C
 gnomAD v4
3g.43577164T=CA1360853237ANO10c.690A= (p.Leu230=)
c.593-2300A= (n.593-2300A=)
c.492A= (p.Leu164=)
c.473-11437A= (n.473-11437A=)
c.357A= (p.Leu119=)
n.806A=
3g.43577165A=CA1360853238ANO10c.689T= (p.Leu230=)
c.593-2301T= (n.593-2301T=)
c.491T= (p.Leu164=)
c.473-11438T= (n.473-11438T=)
c.356T= (p.Leu119=)
n.805T=
3g.43577165A>CCA352344177ANO10c.689T>G (p.Leu230Ter)
c.593-2301T>G (n.593-2301T>G)
c.491T>G (p.Leu164Ter)
c.473-11438T>G (n.473-11438T>G)
c.356T>G (p.Leu119Ter)
n.805T>G
3g.43577165A>GCA352344178ANO10c.689T>C (p.Leu230Ser)
c.593-2301T>C (n.593-2301T>C)
c.491T>C (p.Leu164Ser)
c.473-11438T>C (n.473-11438T>C)
c.356T>C (p.Leu119Ser)
n.805T>C
3g.43577165A>TCA352344179ANO10c.689T>A (p.Leu230Ter)
c.593-2301T>A (n.593-2301T>A)
c.491T>A (p.Leu164Ter)
c.473-11438T>A (n.473-11438T>A)
c.356T>A (p.Leu119Ter)
n.805T>A
 dbSNP gnomAD v2 gnomAD v4
3g.43577165_43577168dupCA2665304693ANO10c.686_689dup (p.Pro231ValfsTer12)
c.593-2304_593-2301dup (n.593-2304_593-2301dup)
c.488_491dup (p.Pro165ValfsTer12)
c.473-11441_473-11438dup (n.473-11441_473-11438dup)
c.353_356dup (p.Pro120ValfsTer12)
n.802_805dup
 gnomAD v4
3g.43577166A>CCA352344180ANO10c.688T>G (p.Leu230Val)
c.593-2302T>G (n.593-2302T>G)
c.490T>G (p.Leu164Val)
c.473-11439T>G (n.473-11439T>G)
c.355T>G (p.Leu119Val)
n.804T>G
3g.43577166A>GCA433574401ANO10c.688T>C (p.Leu230=)
c.593-2302T>C (n.593-2302T>C)
c.490T>C (p.Leu164=)
c.473-11439T>C (n.473-11439T>C)
c.355T>C (p.Leu119=)
n.804T>C
3g.43577166A>TCA352344181ANO10c.688T>A (p.Leu230Ile)
c.593-2302T>A (n.593-2302T>A)
c.490T>A (p.Leu164Ile)
c.473-11439T>A (n.473-11439T>A)
c.355T>A (p.Leu119Ile)
n.804T>A
3g.43577167C>ACA433574405ANO10c.687G>T (p.Gly229=)
c.593-2303G>T (n.593-2303G>T)
c.489G>T (p.Gly163=)
c.473-11440G>T (n.473-11440G>T)
c.354G>T (p.Gly118=)
n.803G>T
 dbSNP gnomAD v2
3g.43577167C=CA1360853239ANO10c.687G= (p.Gly229=)
c.593-2303G= (n.593-2303G=)
c.489G= (p.Gly163=)
c.473-11440G= (n.473-11440G=)
c.354G= (p.Gly118=)
n.803G=
3g.43577167C>GCA433574407ANO10c.687G>C (p.Gly229=)
c.593-2303G>C (n.593-2303G>C)
c.489G>C (p.Gly163=)
c.473-11440G>C (n.473-11440G>C)
c.354G>C (p.Gly118=)
n.803G>C
3g.43577167C>TCA433574403ANO10c.687G>A (p.Gly229=)
c.593-2303G>A (n.593-2303G>A)
c.489G>A (p.Gly163=)
c.473-11440G>A (n.473-11440G>A)
c.354G>A (p.Gly118=)
n.803G>A
 ClinVar
3g.43577168C>ACA352344182ANO10c.686G>T (p.Gly229Val)
c.593-2304G>T (n.593-2304G>T)
c.488G>T (p.Gly163Val)
c.473-11441G>T (n.473-11441G>T)
c.353G>T (p.Gly118Val)
n.802G>T
3g.43577168C=CA1360853240ANO10c.686G= (p.Gly229=)
c.593-2304G= (n.593-2304G=)
c.488G= (p.Gly163=)
c.473-11441G= (n.473-11441G=)
c.353G= (p.Gly118=)
n.802G=
3g.43577168C>GCA352344183ANO10c.686G>C (p.Gly229Ala)
c.593-2304G>C (n.593-2304G>C)
c.488G>C (p.Gly163Ala)
c.473-11441G>C (n.473-11441G>C)
c.353G>C (p.Gly118Ala)
n.802G>C
3g.43577168C>TCA2340968ANO10c.686G>A (p.Gly229Glu)
c.593-2304G>A (n.593-2304G>A)
c.488G>A (p.Gly163Glu)
c.473-11441G>A (n.473-11441G>A)
c.353G>A (p.Gly118Glu)
n.802G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.43577169C>ACA352344184ANO10c.685G>T (p.Gly229Trp)
c.593-2305G>T (n.593-2305G>T)
c.487G>T (p.Gly163Trp)
c.473-11442G>T (n.473-11442G>T)
c.352G>T (p.Gly118Trp)
n.801G>T
 gnomAD v4
3g.43577169C>GCA352344185ANO10c.685G>C (p.Gly229Arg)
c.593-2305G>C (n.593-2305G>C)
c.487G>C (p.Gly163Arg)
c.473-11442G>C (n.473-11442G>C)
c.352G>C (p.Gly118Arg)
n.801G>C
3g.43577169C>TCA352344186ANO10c.685G>A (p.Gly229Arg)
c.593-2305G>A (n.593-2305G>A)
c.487G>A (p.Gly163Arg)
c.473-11442G>A (n.473-11442G>A)
c.352G>A (p.Gly118Arg)
n.801G>A
3g.43577170A>CCA352344187ANO10c.684T>G (p.Ile228Met)
c.593-2306T>G (n.593-2306T>G)
c.486T>G (p.Ile162Met)
c.473-11443T>G (n.473-11443T>G)
c.351T>G (p.Ile117Met)
n.800T>G
3g.43577170A>GCA433574415ANO10c.684T>C (p.Ile228=)
c.593-2306T>C (n.593-2306T>C)
c.486T>C (p.Ile162=)
c.473-11443T>C (n.473-11443T>C)
c.351T>C (p.Ile117=)
n.800T>C
3g.43577170A>TCA433574416ANO10c.684T>A (p.Ile228=)
c.593-2306T>A (n.593-2306T>A)
c.486T>A (p.Ile162=)
c.473-11443T>A (n.473-11443T>A)
c.351T>A (p.Ile117=)
n.800T>A

Number of alleles fetched