Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.23338307G>ACA387525388SACSc.5569C>T (p.Gln1857Ter)
c.2186-8823C>T (p.=)
c.2431+3138C>T (p.=)
c.3319C>T (p.Gln1107Ter)
n.1058-8823C>T (p.=)
n.2129+3138C>T
c.5128C>T (p.Gln1710Ter)
c.5596C>T (p.Gln1866Ter)
c.5620C>T (p.Gln1874Ter)
c.5587C>T (p.Gln1863Ter)
c.5560C>T (p.Gln1854Ter)
13g.23338307G>CCA387525390SACSc.5569C>G (p.Gln1857Glu)
c.2186-8823C>G (p.=)
c.2431+3138C>G (p.=)
c.3319C>G (p.Gln1107Glu)
n.1058-8823C>G (p.=)
n.2129+3138C>G
c.5128C>G (p.Gln1710Glu)
c.5596C>G (p.Gln1866Glu)
c.5620C>G (p.Gln1874Glu)
c.5587C>G (p.Gln1863Glu)
c.5560C>G (p.Gln1854Glu)
13g.23338307G>TCA387525389SACSc.5569C>A (p.Gln1857Lys)
c.2186-8823C>A (p.=)
c.2431+3138C>A (p.=)
c.3319C>A (p.Gln1107Lys)
n.1058-8823C>A (p.=)
n.2129+3138C>A
c.5128C>A (p.Gln1710Lys)
c.5596C>A (p.Gln1866Lys)
c.5620C>A (p.Gln1874Lys)
c.5587C>A (p.Gln1863Lys)
c.5560C>A (p.Gln1854Lys)
13g.23338308G>ACA6911229SACSc.5568C>T (p.Ile1856=)
c.2186-8824C>T (p.=)
c.2431+3137C>T (p.=)
c.3318C>T (p.Ile1106=)
n.1058-8824C>T (p.=)
n.2129+3137C>T
c.5127C>T (p.Ile1709=)
c.5595C>T (p.Ile1865=)
c.5619C>T (p.Ile1873=)
c.5586C>T (p.Ile1862=)
c.5559C>T (p.Ile1853=)
dbSNP ExAC gnomAD
13g.23338308G>CCA387525391SACSc.5568C>G (p.Ile1856Met)
c.2186-8824C>G (p.=)
c.2431+3137C>G (p.=)
c.3318C>G (p.Ile1106Met)
n.1058-8824C>G (p.=)
n.2129+3137C>G
c.5127C>G (p.Ile1709Met)
c.5595C>G (p.Ile1865Met)
c.5619C>G (p.Ile1873Met)
c.5586C>G (p.Ile1862Met)
c.5559C>G (p.Ile1853Met)
13g.23338308G=CA2078629129SACSc.5568C= (p.Ile1856=)
c.2186-8824C= (p.=)
c.2431+3137C= (p.=)
c.3318C= (p.Ile1106=)
n.1058-8824C= (p.=)
n.2129+3137C=
c.5127C= (p.Ile1709=)
c.5595C= (p.Ile1865=)
c.5619C= (p.Ile1873=)
c.5586C= (p.Ile1862=)
c.5559C= (p.Ile1853=)
13g.23338308G>TCA483161926SACSc.5568C>A (p.Ile1856=)
c.2186-8824C>A (p.=)
c.2431+3137C>A (p.=)
c.3318C>A (p.Ile1106=)
n.1058-8824C>A (p.=)
n.2129+3137C>A
c.5127C>A (p.Ile1709=)
c.5595C>A (p.Ile1865=)
c.5619C>A (p.Ile1873=)
c.5586C>A (p.Ile1862=)
c.5559C>A (p.Ile1853=)
13g.23338309A>CCA387525392SACSc.5567T>G (p.Ile1856Ser)
c.2186-8825T>G (p.=)
c.2431+3136T>G (p.=)
c.3317T>G (p.Ile1106Ser)
n.1058-8825T>G (p.=)
n.2129+3136T>G
c.5126T>G (p.Ile1709Ser)
c.5594T>G (p.Ile1865Ser)
c.5618T>G (p.Ile1873Ser)
c.5585T>G (p.Ile1862Ser)
c.5558T>G (p.Ile1853Ser)
13g.23338309A>GCA387525393SACSc.5567T>C (p.Ile1856Thr)
c.2186-8825T>C (p.=)
c.2431+3136T>C (p.=)
c.3317T>C (p.Ile1106Thr)
n.1058-8825T>C (p.=)
n.2129+3136T>C
c.5126T>C (p.Ile1709Thr)
c.5594T>C (p.Ile1865Thr)
c.5618T>C (p.Ile1873Thr)
c.5585T>C (p.Ile1862Thr)
c.5558T>C (p.Ile1853Thr)
13g.23338309A>TCA387525394SACSc.5567T>A (p.Ile1856Asn)
c.2186-8825T>A (p.=)
c.2431+3136T>A (p.=)
c.3317T>A (p.Ile1106Asn)
n.1058-8825T>A (p.=)
n.2129+3136T>A
c.5126T>A (p.Ile1709Asn)
c.5594T>A (p.Ile1865Asn)
c.5618T>A (p.Ile1873Asn)
c.5585T>A (p.Ile1862Asn)
c.5558T>A (p.Ile1853Asn)
13g.23338310T>ACA387525395SACSc.5566A>T (p.Ile1856Phe)
c.2186-8826A>T (p.=)
c.2431+3135A>T (p.=)
c.3316A>T (p.Ile1106Phe)
n.1058-8826A>T (p.=)
n.2129+3135A>T
c.5125A>T (p.Ile1709Phe)
c.5593A>T (p.Ile1865Phe)
c.5617A>T (p.Ile1873Phe)
c.5584A>T (p.Ile1862Phe)
c.5557A>T (p.Ile1853Phe)
13g.23338310T>CCA387525396SACSc.5566A>G (p.Ile1856Val)
c.2186-8826A>G (p.=)
c.2431+3135A>G (p.=)
c.3316A>G (p.Ile1106Val)
n.1058-8826A>G (p.=)
n.2129+3135A>G
c.5125A>G (p.Ile1709Val)
c.5593A>G (p.Ile1865Val)
c.5617A>G (p.Ile1873Val)
c.5584A>G (p.Ile1862Val)
c.5557A>G (p.Ile1853Val)
13g.23338310T>GCA387525397SACSc.5566A>C (p.Ile1856Leu)
c.2186-8826A>C (p.=)
c.2431+3135A>C (p.=)
c.3316A>C (p.Ile1106Leu)
n.1058-8826A>C (p.=)
n.2129+3135A>C
c.5125A>C (p.Ile1709Leu)
c.5593A>C (p.Ile1865Leu)
c.5617A>C (p.Ile1873Leu)
c.5584A>C (p.Ile1862Leu)
c.5557A>C (p.Ile1853Leu)
13g.23338311T>ACA387525398SACSc.5565A>T (p.Glu1855Asp)
c.2186-8827A>T (p.=)
c.2431+3134A>T (p.=)
c.3315A>T (p.Glu1105Asp)
n.1058-8827A>T (p.=)
n.2129+3134A>T
c.5124A>T (p.Glu1708Asp)
c.5592A>T (p.Glu1864Asp)
c.5616A>T (p.Glu1872Asp)
c.5583A>T (p.Glu1861Asp)
c.5556A>T (p.Glu1852Asp)
13g.23338311T>CCA483161927SACSc.5565A>G (p.Glu1855=)
c.2186-8827A>G (p.=)
c.2431+3134A>G (p.=)
c.3315A>G (p.Glu1105=)
n.1058-8827A>G (p.=)
n.2129+3134A>G
c.5124A>G (p.Glu1708=)
c.5592A>G (p.Glu1864=)
c.5616A>G (p.Glu1872=)
c.5583A>G (p.Glu1861=)
c.5556A>G (p.Glu1852=)
13g.23338311T>GCA387525399SACSc.5565A>C (p.Glu1855Asp)
c.2186-8827A>C (p.=)
c.2431+3134A>C (p.=)
c.3315A>C (p.Glu1105Asp)
n.1058-8827A>C (p.=)
n.2129+3134A>C
c.5124A>C (p.Glu1708Asp)
c.5592A>C (p.Glu1864Asp)
c.5616A>C (p.Glu1872Asp)
c.5583A>C (p.Glu1861Asp)
c.5556A>C (p.Glu1852Asp)
13g.23338312T>ACA387525401SACSc.5564A>T (p.Glu1855Val)
c.2186-8828A>T (p.=)
c.2431+3133A>T (p.=)
c.3314A>T (p.Glu1105Val)
n.1058-8828A>T (p.=)
n.2129+3133A>T
c.5123A>T (p.Glu1708Val)
c.5591A>T (p.Glu1864Val)
c.5615A>T (p.Glu1872Val)
c.5582A>T (p.Glu1861Val)
c.5555A>T (p.Glu1852Val)
13g.23338312T>CCA387525402SACSc.5564A>G (p.Glu1855Gly)
c.2186-8828A>G (p.=)
c.2431+3133A>G (p.=)
c.3314A>G (p.Glu1105Gly)
n.1058-8828A>G (p.=)
n.2129+3133A>G
c.5123A>G (p.Glu1708Gly)
c.5591A>G (p.Glu1864Gly)
c.5615A>G (p.Glu1872Gly)
c.5582A>G (p.Glu1861Gly)
c.5555A>G (p.Glu1852Gly)
13g.23338312T>GCA387525400SACSc.5564A>C (p.Glu1855Ala)
c.2186-8828A>C (p.=)
c.2431+3133A>C (p.=)
c.3314A>C (p.Glu1105Ala)
n.1058-8828A>C (p.=)
n.2129+3133A>C
c.5123A>C (p.Glu1708Ala)
c.5591A>C (p.Glu1864Ala)
c.5615A>C (p.Glu1872Ala)
c.5582A>C (p.Glu1861Ala)
c.5555A>C (p.Glu1852Ala)
13g.23338313C>ACA387525403SACSc.5563G>T (p.Glu1855Ter)
c.2186-8829G>T (p.=)
c.2431+3132G>T (p.=)
c.3313G>T (p.Glu1105Ter)
n.1058-8829G>T (p.=)
n.2129+3132G>T
c.5122G>T (p.Glu1708Ter)
c.5590G>T (p.Glu1864Ter)
c.5614G>T (p.Glu1872Ter)
c.5581G>T (p.Glu1861Ter)
c.5554G>T (p.Glu1852Ter)
13g.23338313C>GCA387525404SACSc.5563G>C (p.Glu1855Gln)
c.2186-8829G>C (p.=)
c.2431+3132G>C (p.=)
c.3313G>C (p.Glu1105Gln)
n.1058-8829G>C (p.=)
n.2129+3132G>C
c.5122G>C (p.Glu1708Gln)
c.5590G>C (p.Glu1864Gln)
c.5614G>C (p.Glu1872Gln)
c.5581G>C (p.Glu1861Gln)
c.5554G>C (p.Glu1852Gln)
13g.23338313C>TCA387525405SACSc.5563G>A (p.Glu1855Lys)
c.2186-8829G>A (p.=)
c.2431+3132G>A (p.=)
c.3313G>A (p.Glu1105Lys)
n.1058-8829G>A (p.=)
n.2129+3132G>A
c.5122G>A (p.Glu1708Lys)
c.5590G>A (p.Glu1864Lys)
c.5614G>A (p.Glu1872Lys)
c.5581G>A (p.Glu1861Lys)
c.5554G>A (p.Glu1852Lys)
13g.23338314T>ACA483161928SACSc.5562A>T (p.Ser1854=)
c.2186-8830A>T (p.=)
c.2431+3131A>T (p.=)
c.3312A>T (p.Ser1104=)
n.1058-8830A>T (p.=)
n.2129+3131A>T
c.5121A>T (p.Ser1707=)
c.5589A>T (p.Ser1863=)
c.5613A>T (p.Ser1871=)
c.5580A>T (p.Ser1860=)
c.5553A>T (p.Ser1851=)
13g.23338314T>CCA483161929SACSc.5562A>G (p.Ser1854=)
c.2186-8830A>G (p.=)
c.2431+3131A>G (p.=)
c.3312A>G (p.Ser1104=)
n.1058-8830A>G (p.=)
n.2129+3131A>G
c.5121A>G (p.Ser1707=)
c.5589A>G (p.Ser1863=)
c.5613A>G (p.Ser1871=)
c.5580A>G (p.Ser1860=)
c.5553A>G (p.Ser1851=)
13g.23338314T>GCA483161930SACSc.5562A>C (p.Ser1854=)
c.2186-8830A>C (p.=)
c.2431+3131A>C (p.=)
c.3312A>C (p.Ser1104=)
n.1058-8830A>C (p.=)
n.2129+3131A>C
c.5121A>C (p.Ser1707=)
c.5589A>C (p.Ser1863=)
c.5613A>C (p.Ser1871=)
c.5580A>C (p.Ser1860=)
c.5553A>C (p.Ser1851=)
13g.23338315G>ACA387525406SACSc.5561C>T (p.Ser1854Leu)
c.2186-8831C>T (p.=)
c.2431+3130C>T (p.=)
c.3311C>T (p.Ser1104Leu)
n.1058-8831C>T (p.=)
n.2129+3130C>T
c.5120C>T (p.Ser1707Leu)
c.5588C>T (p.Ser1863Leu)
c.5612C>T (p.Ser1871Leu)
c.5579C>T (p.Ser1860Leu)
c.5552C>T (p.Ser1851Leu)
13g.23338315G>CCA387525407SACSc.5561C>G (p.Ser1854Ter)
c.2186-8831C>G (p.=)
c.2431+3130C>G (p.=)
c.3311C>G (p.Ser1104Ter)
n.1058-8831C>G (p.=)
n.2129+3130C>G
c.5120C>G (p.Ser1707Ter)
c.5588C>G (p.Ser1863Ter)
c.5612C>G (p.Ser1871Ter)
c.5579C>G (p.Ser1860Ter)
c.5552C>G (p.Ser1851Ter)
13g.23338315G>TCA387525408SACSc.5561C>A (p.Ser1854Ter)
c.2186-8831C>A (p.=)
c.2431+3130C>A (p.=)
c.3311C>A (p.Ser1104Ter)
n.1058-8831C>A (p.=)
n.2129+3130C>A
c.5120C>A (p.Ser1707Ter)
c.5588C>A (p.Ser1863Ter)
c.5612C>A (p.Ser1871Ter)
c.5579C>A (p.Ser1860Ter)
c.5552C>A (p.Ser1851Ter)
13g.23338316A=CA2078629131SACSc.5560T= (p.Ser1854=)
c.2186-8832T= (p.=)
c.2431+3129T= (p.=)
c.3310T= (p.Ser1104=)
n.1058-8832T= (p.=)
n.2129+3129T=
c.5119T= (p.Ser1707=)
c.5587T= (p.Ser1863=)
c.5611T= (p.Ser1871=)
c.5578T= (p.Ser1860=)
c.5551T= (p.Ser1851=)
13g.23338316A>CCA387525409SACSc.5560T>G (p.Ser1854Ala)
c.2186-8832T>G (p.=)
c.2431+3129T>G (p.=)
c.3310T>G (p.Ser1104Ala)
n.1058-8832T>G (p.=)
n.2129+3129T>G
c.5119T>G (p.Ser1707Ala)
c.5587T>G (p.Ser1863Ala)
c.5611T>G (p.Ser1871Ala)
c.5578T>G (p.Ser1860Ala)
c.5551T>G (p.Ser1851Ala)
13g.23338316A>GCA387525410SACSc.5560T>C (p.Ser1854Pro)
c.2186-8832T>C (p.=)
c.2431+3129T>C (p.=)
c.3310T>C (p.Ser1104Pro)
n.1058-8832T>C (p.=)
n.2129+3129T>C
c.5119T>C (p.Ser1707Pro)
c.5587T>C (p.Ser1863Pro)
c.5611T>C (p.Ser1871Pro)
c.5578T>C (p.Ser1860Pro)
c.5551T>C (p.Ser1851Pro)
13g.23338316A>TCA387525411SACSc.5560T>A (p.Ser1854Thr)
c.2186-8832T>A (p.=)
c.2431+3129T>A (p.=)
c.3310T>A (p.Ser1104Thr)
n.1058-8832T>A (p.=)
n.2129+3129T>A
c.5119T>A (p.Ser1707Thr)
c.5587T>A (p.Ser1863Thr)
c.5611T>A (p.Ser1871Thr)
c.5578T>A (p.Ser1860Thr)
c.5551T>A (p.Ser1851Thr)
13g.23338317C>ACA483161931SACSc.5559G>T (p.Leu1853=)
c.2186-8833G>T (p.=)
c.2431+3128G>T (p.=)
c.3309G>T (p.Leu1103=)
n.1058-8833G>T (p.=)
n.2129+3128G>T
c.5118G>T (p.Leu1706=)
c.5586G>T (p.Leu1862=)
c.5610G>T (p.Leu1870=)
c.5577G>T (p.Leu1859=)
c.5550G>T (p.Leu1850=)
13g.23338317C=CA2078629133SACSc.5559G= (p.Leu1853=)
c.2186-8833G= (p.=)
c.2431+3128G= (p.=)
c.3309G= (p.Leu1103=)
n.1058-8833G= (p.=)
n.2129+3128G=
c.5118G= (p.Leu1706=)
c.5586G= (p.Leu1862=)
c.5610G= (p.Leu1870=)
c.5577G= (p.Leu1859=)
c.5550G= (p.Leu1850=)
13g.23338317C>GCA483161932SACSc.5559G>C (p.Leu1853=)
c.2186-8833G>C (p.=)
c.2431+3128G>C (p.=)
c.3309G>C (p.Leu1103=)
n.1058-8833G>C (p.=)
n.2129+3128G>C
c.5118G>C (p.Leu1706=)
c.5586G>C (p.Leu1862=)
c.5610G>C (p.Leu1870=)
c.5577G>C (p.Leu1859=)
c.5550G>C (p.Leu1850=)
13g.23338317C>TCA246659037SACSc.5559G>A (p.Leu1853=)
c.2186-8833G>A (p.=)
c.2431+3128G>A (p.=)
c.3309G>A (p.Leu1103=)
n.1058-8833G>A (p.=)
n.2129+3128G>A
c.5118G>A (p.Leu1706=)
c.5586G>A (p.Leu1862=)
c.5610G>A (p.Leu1870=)
c.5577G>A (p.Leu1859=)
c.5550G>A (p.Leu1850=)
dbSNP
13g.23338318A=CA2078629135SACSc.5558T= (p.Leu1853=)
c.2186-8834T= (p.=)
c.2431+3127T= (p.=)
c.3308T= (p.Leu1103=)
n.1058-8834T= (p.=)
n.2129+3127T=
c.5117T= (p.Leu1706=)
c.5585T= (p.Leu1862=)
c.5609T= (p.Leu1870=)
c.5576T= (p.Leu1859=)
c.5549T= (p.Leu1850=)
13g.23338318A>CCA387525412SACSc.5558T>G (p.Leu1853Arg)
c.2186-8834T>G (p.=)
c.2431+3127T>G (p.=)
c.3308T>G (p.Leu1103Arg)
n.1058-8834T>G (p.=)
n.2129+3127T>G
c.5117T>G (p.Leu1706Arg)
c.5585T>G (p.Leu1862Arg)
c.5609T>G (p.Leu1870Arg)
c.5576T>G (p.Leu1859Arg)
c.5549T>G (p.Leu1850Arg)
13g.23338318A>GCA387525413SACSc.5558T>C (p.Leu1853Pro)
c.2186-8834T>C (p.=)
c.2431+3127T>C (p.=)
c.3308T>C (p.Leu1103Pro)
n.1058-8834T>C (p.=)
n.2129+3127T>C
c.5117T>C (p.Leu1706Pro)
c.5585T>C (p.Leu1862Pro)
c.5609T>C (p.Leu1870Pro)
c.5576T>C (p.Leu1859Pro)
c.5549T>C (p.Leu1850Pro)
13g.23338318A>TCA6911230SACSc.5558T>A (p.Leu1853Gln)
c.2186-8834T>A (p.=)
c.2431+3127T>A (p.=)
c.3308T>A (p.Leu1103Gln)
n.1058-8834T>A (p.=)
n.2129+3127T>A
c.5117T>A (p.Leu1706Gln)
c.5585T>A (p.Leu1862Gln)
c.5609T>A (p.Leu1870Gln)
c.5576T>A (p.Leu1859Gln)
c.5549T>A (p.Leu1850Gln)
dbSNP ExAC gnomAD
13g.23338319G>ACA483161933SACSc.5557C>T (p.Leu1853=)
c.2186-8835C>T (p.=)
c.2431+3126C>T (p.=)
c.3307C>T (p.Leu1103=)
n.1058-8835C>T (p.=)
n.2129+3126C>T
c.5116C>T (p.Leu1706=)
c.5584C>T (p.Leu1862=)
c.5608C>T (p.Leu1870=)
c.5575C>T (p.Leu1859=)
c.5548C>T (p.Leu1850=)
13g.23338319G>CCA387525415SACSc.5557C>G (p.Leu1853Val)
c.2186-8835C>G (p.=)
c.2431+3126C>G (p.=)
c.3307C>G (p.Leu1103Val)
n.1058-8835C>G (p.=)
n.2129+3126C>G
c.5116C>G (p.Leu1706Val)
c.5584C>G (p.Leu1862Val)
c.5608C>G (p.Leu1870Val)
c.5575C>G (p.Leu1859Val)
c.5548C>G (p.Leu1850Val)
13g.23338319G=CA2078629139SACSc.5557C= (p.Leu1853=)
c.2186-8835C= (p.=)
c.2431+3126C= (p.=)
c.3307C= (p.Leu1103=)
n.1058-8835C= (p.=)
n.2129+3126C=
c.5116C= (p.Leu1706=)
c.5584C= (p.Leu1862=)
c.5608C= (p.Leu1870=)
c.5575C= (p.Leu1859=)
c.5548C= (p.Leu1850=)
13g.23338319G>TCA387525414SACSc.5557C>A (p.Leu1853Met)
c.2186-8835C>A (p.=)
c.2431+3126C>A (p.=)
c.3307C>A (p.Leu1103Met)
n.1058-8835C>A (p.=)
n.2129+3126C>A
c.5116C>A (p.Leu1706Met)
c.5584C>A (p.Leu1862Met)
c.5608C>A (p.Leu1870Met)
c.5575C>A (p.Leu1859Met)
c.5548C>A (p.Leu1850Met)
13g.23338320C>ACA387525416SACSc.5556G>T (p.Gln1852His)
c.2186-8836G>T (p.=)
c.2431+3125G>T (p.=)
c.3306G>T (p.Gln1102His)
n.1058-8836G>T (p.=)
n.2129+3125G>T
c.5115G>T (p.Gln1705His)
c.5583G>T (p.Gln1861His)
c.5607G>T (p.Gln1869His)
c.5574G>T (p.Gln1858His)
c.5547G>T (p.Gln1849His)
13g.23338320C>GCA387525417SACSc.5556G>C (p.Gln1852His)
c.2186-8836G>C (p.=)
c.2431+3125G>C (p.=)
c.3306G>C (p.Gln1102His)
n.1058-8836G>C (p.=)
n.2129+3125G>C
c.5115G>C (p.Gln1705His)
c.5583G>C (p.Gln1861His)
c.5607G>C (p.Gln1869His)
c.5574G>C (p.Gln1858His)
c.5547G>C (p.Gln1849His)
13g.23338320C>TCA483161934SACSc.5556G>A (p.Gln1852=)
c.2186-8836G>A (p.=)
c.2431+3125G>A (p.=)
c.3306G>A (p.Gln1102=)
n.1058-8836G>A (p.=)
n.2129+3125G>A
c.5115G>A (p.Gln1705=)
c.5583G>A (p.Gln1861=)
c.5607G>A (p.Gln1869=)
c.5574G>A (p.Gln1858=)
c.5547G>A (p.Gln1849=)
13g.23338321T>ACA387525418SACSc.5555A>T (p.Gln1852Leu)
c.2186-8837A>T (p.=)
c.2431+3124A>T (p.=)
c.3305A>T (p.Gln1102Leu)
n.1058-8837A>T (p.=)
n.2129+3124A>T
c.5114A>T (p.Gln1705Leu)
c.5582A>T (p.Gln1861Leu)
c.5606A>T (p.Gln1869Leu)
c.5573A>T (p.Gln1858Leu)
c.5546A>T (p.Gln1849Leu)
13g.23338321T>CCA387525419SACSc.5555A>G (p.Gln1852Arg)
c.2186-8837A>G (p.=)
c.2431+3124A>G (p.=)
c.3305A>G (p.Gln1102Arg)
n.1058-8837A>G (p.=)
n.2129+3124A>G
c.5114A>G (p.Gln1705Arg)
c.5582A>G (p.Gln1861Arg)
c.5606A>G (p.Gln1869Arg)
c.5573A>G (p.Gln1858Arg)
c.5546A>G (p.Gln1849Arg)
13g.23338321T>GCA387525420SACSc.5555A>C (p.Gln1852Pro)
c.2186-8837A>C (p.=)
c.2431+3124A>C (p.=)
c.3305A>C (p.Gln1102Pro)
n.1058-8837A>C (p.=)
n.2129+3124A>C
c.5114A>C (p.Gln1705Pro)
c.5582A>C (p.Gln1861Pro)
c.5606A>C (p.Gln1869Pro)
c.5573A>C (p.Gln1858Pro)
c.5546A>C (p.Gln1849Pro)

Number of alleles fetched