Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.115975282_115975287dupCA952185234MED13Lc.5615_5620dup (p.Lys1873_Ile1874insSerLys)
n.605_610dup
n.3983_3988dup
n.5379_5384dup
n.3800_3805dup
n.3626_3631dup
c.3799_3804dup
c.2104_2109dup
c.5651_5656dup (p.Lys1885_Ile1886insSerLys)
c.228_233dup
c.5648_5653dup (p.Lys1884_Ile1885insSerLys)
c.5621_5626dup (p.Lys1875_Ile1876insSerLys)
c.5612_5617dup (p.Lys1872_Ile1873insSerLys)
 dbSNP gnomAD v3 gnomAD v4
12g.115975287C>ACA386878620MED13Lc.5615G>T (p.Arg1872Leu)
n.605G>T
n.3983G>T
n.5379G>T
n.3800G>T
n.3626G>T
c.3799G>T
c.2104G>T
c.5651G>T (p.Arg1884Leu)
c.228G>T
c.5648G>T (p.Arg1883Leu)
c.5621G>T (p.Arg1874Leu)
c.5612G>T (p.Arg1871Leu)
 dbSNP
12g.115975287C=CA2065412919MED13Lc.5615G= (p.Arg1872=)
n.605G=
n.3983G=
n.5379G=
n.3800G=
n.3626G=
c.3799G=
c.2104G=
c.5651G= (p.Arg1884=)
c.228G=
c.5648G= (p.Arg1883=)
c.5621G= (p.Arg1874=)
c.5612G= (p.Arg1871=)
12g.115975287C>GCA386878621MED13Lc.5615G>C (p.Arg1872Pro)
n.605G>C
n.3983G>C
n.5379G>C
n.3800G>C
n.3626G>C
c.3799G>C
c.2104G>C
c.5651G>C (p.Arg1884Pro)
c.228G>C
c.5648G>C (p.Arg1883Pro)
c.5621G>C (p.Arg1874Pro)
c.5612G>C (p.Arg1871Pro)
 ClinVar dbSNP
12g.115975287C>TCA115347MED13Lc.5615G>A (p.Arg1872His)
n.605G>A
n.3983G>A
n.5379G>A
n.3800G>A
n.3626G>A
c.3799G>A
c.2104G>A
c.5651G>A (p.Arg1884His)
c.228G>A
c.5648G>A (p.Arg1883His)
c.5621G>A (p.Arg1874His)
c.5612G>A (p.Arg1871His)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.115975288G>ACA386878626MED13Lc.5614C>T (p.Arg1872Cys)
n.604C>T
n.3982C>T
n.5378C>T
n.3799C>T
n.3625C>T
c.3798C>T
c.2103C>T
c.5650C>T (p.Arg1884Cys)
c.227C>T
c.5647C>T (p.Arg1883Cys)
c.5620C>T (p.Arg1874Cys)
c.5611C>T (p.Arg1871Cys)
 ClinVar dbSNP gnomAD v4
12g.115975288G>CCA386878627MED13Lc.5614C>G (p.Arg1872Gly)
n.604C>G
n.3982C>G
n.5378C>G
n.3799C>G
n.3625C>G
c.3798C>G
c.2103C>G
c.5650C>G (p.Arg1884Gly)
c.227C>G
c.5647C>G (p.Arg1883Gly)
c.5620C>G (p.Arg1874Gly)
c.5611C>G (p.Arg1871Gly)
12g.115975288G=CA2065412920MED13Lc.5614C= (p.Arg1872=)
n.604C=
n.3982C=
n.5378C=
n.3799C=
n.3625C=
c.3798C=
c.2103C=
c.5650C= (p.Arg1884=)
c.227C=
c.5647C= (p.Arg1883=)
c.5620C= (p.Arg1874=)
c.5611C= (p.Arg1871=)
12g.115975288G>TCA386878628MED13Lc.5614C>A (p.Arg1872Ser)
n.604C>A
n.3982C>A
n.5378C>A
n.3799C>A
n.3625C>A
c.3798C>A
c.2103C>A
c.5650C>A (p.Arg1884Ser)
c.227C>A
c.5647C>A (p.Arg1883Ser)
c.5620C>A (p.Arg1874Ser)
c.5611C>A (p.Arg1871Ser)
12g.115975289T>ACA481944869MED13Lc.5613A>T (p.Ala1871=)
n.603A>T
n.3981A>T
n.5377A>T
n.3798A>T
n.3624A>T
c.3797A>T
c.2102A>T
c.5649A>T (p.Ala1883=)
c.226A>T
c.5646A>T (p.Ala1882=)
c.5619A>T (p.Ala1873=)
c.5610A>T (p.Ala1870=)
12g.115975289T>CCA481944870MED13Lc.5613A>G (p.Ala1871=)
n.603A>G
n.3981A>G
n.5377A>G
n.3798A>G
n.3624A>G
c.3797A>G
c.2102A>G
c.5649A>G (p.Ala1883=)
c.226A>G
c.5646A>G (p.Ala1882=)
c.5619A>G (p.Ala1873=)
c.5610A>G (p.Ala1870=)
 gnomAD v4
12g.115975289T>GCA481944871MED13Lc.5613A>C (p.Ala1871=)
n.603A>C
n.3981A>C
n.5377A>C
n.3798A>C
n.3624A>C
c.3797A>C
c.2102A>C
c.5649A>C (p.Ala1883=)
c.226A>C
c.5646A>C (p.Ala1882=)
c.5619A>C (p.Ala1873=)
c.5610A>C (p.Ala1870=)
12g.115975290G>ACA6810539MED13Lc.5612C>T (p.Ala1871Val)
n.602C>T
n.3980C>T
n.5376C>T
n.3797C>T
n.3623C>T
c.3796C>T
c.2101C>T
c.5648C>T (p.Ala1883Val)
c.225C>T
c.5645C>T (p.Ala1882Val)
c.5618C>T (p.Ala1873Val)
c.5609C>T (p.Ala1870Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.115975290G>CCA386878636MED13Lc.5612C>G (p.Ala1871Gly)
n.602C>G
n.3980C>G
n.5376C>G
n.3797C>G
n.3623C>G
c.3796C>G
c.2101C>G
c.5648C>G (p.Ala1883Gly)
c.225C>G
c.5645C>G (p.Ala1882Gly)
c.5618C>G (p.Ala1873Gly)
c.5609C>G (p.Ala1870Gly)
12g.115975290G=CA2065412921MED13Lc.5612C= (p.Ala1871=)
n.602C=
n.3980C=
n.5376C=
n.3797C=
n.3623C=
c.3796C=
c.2101C=
c.5648C= (p.Ala1883=)
c.225C=
c.5645C= (p.Ala1882=)
c.5618C= (p.Ala1873=)
c.5609C= (p.Ala1870=)
12g.115975290G>TCA386878631MED13Lc.5612C>A (p.Ala1871Glu)
n.602C>A
n.3980C>A
n.5376C>A
n.3797C>A
n.3623C>A
c.3796C>A
c.2101C>A
c.5648C>A (p.Ala1883Glu)
c.225C>A
c.5645C>A (p.Ala1882Glu)
c.5618C>A (p.Ala1873Glu)
c.5609C>A (p.Ala1870Glu)
12g.115975291C>ACA386878642MED13Lc.5611G>T (p.Ala1871Ser)
n.601G>T
n.3979G>T
n.5375G>T
n.3796G>T
n.3622G>T
c.3795G>T
c.2100G>T
c.5647G>T (p.Ala1883Ser)
c.224G>T
c.5644G>T (p.Ala1882Ser)
c.5617G>T (p.Ala1873Ser)
c.5608G>T (p.Ala1870Ser)
12g.115975291C>GCA386878638MED13Lc.5611G>C (p.Ala1871Pro)
n.601G>C
n.3979G>C
n.5375G>C
n.3796G>C
n.3622G>C
c.3795G>C
c.2100G>C
c.5647G>C (p.Ala1883Pro)
c.224G>C
c.5644G>C (p.Ala1882Pro)
c.5617G>C (p.Ala1873Pro)
c.5608G>C (p.Ala1870Pro)
12g.115975291C>TCA386878641MED13Lc.5611G>A (p.Ala1871Thr)
n.601G>A
n.3979G>A
n.5375G>A
n.3796G>A
n.3622G>A
c.3795G>A
c.2100G>A
c.5647G>A (p.Ala1883Thr)
c.224G>A
c.5644G>A (p.Ala1882Thr)
c.5617G>A (p.Ala1873Thr)
c.5608G>A (p.Ala1870Thr)
12g.115975292A=CA2065412922MED13Lc.5610T= (p.Ser1870=)
n.600T=
n.3978T=
n.5374T=
n.3795T=
n.3621T=
c.3794T=
c.2099T=
c.5646T= (p.Ser1882=)
c.223T=
c.5643T= (p.Ser1881=)
c.5616T= (p.Ser1872=)
c.5607T= (p.Ser1869=)
12g.115975292A>CCA481944872MED13Lc.5610T>G (p.Ser1870=)
n.600T>G
n.3978T>G
n.5374T>G
n.3795T>G
n.3621T>G
c.3794T>G
c.2099T>G
c.5646T>G (p.Ser1882=)
c.223T>G
c.5643T>G (p.Ser1881=)
c.5616T>G (p.Ser1872=)
c.5607T>G (p.Ser1869=)
 gnomAD v4
12g.115975292A>GCA481944873MED13Lc.5610T>C (p.Ser1870=)
n.600T>C
n.3978T>C
n.5374T>C
n.3795T>C
n.3621T>C
c.3794T>C
c.2099T>C
c.5646T>C (p.Ser1882=)
c.223T>C
c.5643T>C (p.Ser1881=)
c.5616T>C (p.Ser1872=)
c.5607T>C (p.Ser1869=)
 dbSNP gnomAD v3 gnomAD v4
12g.115975292A>TCA481944874MED13Lc.5610T>A (p.Ser1870=)
n.600T>A
n.3978T>A
n.5374T>A
n.3795T>A
n.3621T>A
c.3794T>A
c.2099T>A
c.5646T>A (p.Ser1882=)
c.223T>A
c.5643T>A (p.Ser1881=)
c.5616T>A (p.Ser1872=)
c.5607T>A (p.Ser1869=)
12g.115975293G>ACA386878643MED13Lc.5609C>T (p.Ser1870Phe)
n.599C>T
n.3977C>T
n.5373C>T
n.3794C>T
n.3620C>T
c.3793C>T
c.2098C>T
c.5645C>T (p.Ser1882Phe)
c.222C>T
c.5642C>T (p.Ser1881Phe)
c.5615C>T (p.Ser1872Phe)
c.5606C>T (p.Ser1869Phe)
 dbSNP gnomAD v2
12g.115975293G>CCA386878644MED13Lc.5609C>G (p.Ser1870Cys)
n.599C>G
n.3977C>G
n.5373C>G
n.3794C>G
n.3620C>G
c.3793C>G
c.2098C>G
c.5645C>G (p.Ser1882Cys)
c.222C>G
c.5642C>G (p.Ser1881Cys)
c.5615C>G (p.Ser1872Cys)
c.5606C>G (p.Ser1869Cys)
12g.115975293G=CA2065412923MED13Lc.5609C= (p.Ser1870=)
n.599C=
n.3977C=
n.5373C=
n.3794C=
n.3620C=
c.3793C=
c.2098C=
c.5645C= (p.Ser1882=)
c.222C=
c.5642C= (p.Ser1881=)
c.5615C= (p.Ser1872=)
c.5606C= (p.Ser1869=)
12g.115975293G>TCA386878646MED13Lc.5609C>A (p.Ser1870Tyr)
n.599C>A
n.3977C>A
n.5373C>A
n.3794C>A
n.3620C>A
c.3793C>A
c.2098C>A
c.5645C>A (p.Ser1882Tyr)
c.222C>A
c.5642C>A (p.Ser1881Tyr)
c.5615C>A (p.Ser1872Tyr)
c.5606C>A (p.Ser1869Tyr)
12g.115975294A>CCA386878650MED13Lc.5608T>G (p.Ser1870Ala)
n.598T>G
n.3976T>G
n.5372T>G
n.3793T>G
n.3619T>G
c.3792T>G
c.2097T>G
c.5644T>G (p.Ser1882Ala)
c.221T>G
c.5641T>G (p.Ser1881Ala)
c.5614T>G (p.Ser1872Ala)
c.5605T>G (p.Ser1869Ala)
12g.115975294A>GCA386878649MED13Lc.5608T>C (p.Ser1870Pro)
n.598T>C
n.3976T>C
n.5372T>C
n.3793T>C
n.3619T>C
c.3792T>C
c.2097T>C
c.5644T>C (p.Ser1882Pro)
c.221T>C
c.5641T>C (p.Ser1881Pro)
c.5614T>C (p.Ser1872Pro)
c.5605T>C (p.Ser1869Pro)
12g.115975294A>TCA386878648MED13Lc.5608T>A (p.Ser1870Thr)
n.598T>A
n.3976T>A
n.5372T>A
n.3793T>A
n.3619T>A
c.3792T>A
c.2097T>A
c.5644T>A (p.Ser1882Thr)
c.221T>A
c.5641T>A (p.Ser1881Thr)
c.5614T>A (p.Ser1872Thr)
c.5605T>A (p.Ser1869Thr)
12g.115975295T>ACA481944875MED13Lc.5607A>T (p.Val1869=)
n.597A>T
n.3975A>T
n.5371A>T
n.3792A>T
n.3618A>T
c.3791A>T
c.2096A>T
c.5643A>T (p.Val1881=)
c.220A>T
c.5640A>T (p.Val1880=)
c.5613A>T (p.Val1871=)
c.5604A>T (p.Val1868=)
 ClinVar
12g.115975295T>CCA481944876MED13Lc.5607A>G (p.Val1869=)
n.597A>G
n.3975A>G
n.5371A>G
n.3792A>G
n.3618A>G
c.3791A>G
c.2096A>G
c.5643A>G (p.Val1881=)
c.220A>G
c.5640A>G (p.Val1880=)
c.5613A>G (p.Val1871=)
c.5604A>G (p.Val1868=)
12g.115975295T>GCA481944877MED13Lc.5607A>C (p.Val1869=)
n.597A>C
n.3975A>C
n.5371A>C
n.3792A>C
n.3618A>C
c.3791A>C
c.2096A>C
c.5643A>C (p.Val1881=)
c.220A>C
c.5640A>C (p.Val1880=)
c.5613A>C (p.Val1871=)
c.5604A>C (p.Val1868=)
12g.115975296A>CCA386878651MED13Lc.5606T>G (p.Val1869Gly)
n.596T>G
n.3974T>G
n.5370T>G
n.3791T>G
n.3617T>G
c.3790T>G
c.2095T>G
c.5642T>G (p.Val1881Gly)
c.219T>G
c.5639T>G (p.Val1880Gly)
c.5612T>G (p.Val1871Gly)
c.5603T>G (p.Val1868Gly)
12g.115975296A>GCA386878653MED13Lc.5606T>C (p.Val1869Ala)
n.596T>C
n.3974T>C
n.5370T>C
n.3791T>C
n.3617T>C
c.3790T>C
c.2095T>C
c.5642T>C (p.Val1881Ala)
c.219T>C
c.5639T>C (p.Val1880Ala)
c.5612T>C (p.Val1871Ala)
c.5603T>C (p.Val1868Ala)
 gnomAD v4
12g.115975296A>TCA386878655MED13Lc.5606T>A (p.Val1869Glu)
n.596T>A
n.3974T>A
n.5370T>A
n.3791T>A
n.3617T>A
c.3790T>A
c.2095T>A
c.5642T>A (p.Val1881Glu)
c.219T>A
c.5639T>A (p.Val1880Glu)
c.5612T>A (p.Val1871Glu)
c.5603T>A (p.Val1868Glu)
12g.115975297C>ACA386878656MED13Lc.5605G>T (p.Val1869Leu)
n.595G>T
n.3973G>T
n.5369G>T
n.3790G>T
n.3616G>T
c.3789G>T
c.2094G>T
c.5641G>T (p.Val1881Leu)
c.218G>T
c.5638G>T (p.Val1880Leu)
c.5611G>T (p.Val1871Leu)
c.5602G>T (p.Val1868Leu)
12g.115975297C=CA2065412924MED13Lc.5605G= (p.Val1869=)
n.595G=
n.3973G=
n.5369G=
n.3790G=
n.3616G=
c.3789G=
c.2094G=
c.5641G= (p.Val1881=)
c.218G=
c.5638G= (p.Val1880=)
c.5611G= (p.Val1871=)
c.5602G= (p.Val1868=)
12g.115975297C>GCA386878658MED13Lc.5605G>C (p.Val1869Leu)
n.595G>C
n.3973G>C
n.5369G>C
n.3790G>C
n.3616G>C
c.3789G>C
c.2094G>C
c.5641G>C (p.Val1881Leu)
c.218G>C
c.5638G>C (p.Val1880Leu)
c.5611G>C (p.Val1871Leu)
c.5602G>C (p.Val1868Leu)
12g.115975297C>TCA386878661MED13Lc.5605G>A (p.Val1869Ile)
n.595G>A
n.3973G>A
n.5369G>A
n.3790G>A
n.3616G>A
c.3789G>A
c.2094G>A
c.5641G>A (p.Val1881Ile)
c.218G>A
c.5638G>A (p.Val1880Ile)
c.5611G>A (p.Val1871Ile)
c.5602G>A (p.Val1868Ile)
 dbSNP gnomAD v2 gnomAD v4
12g.115975298T>ACA386878666MED13Lc.5604A>T (p.Lys1868Asn)
n.594A>T
n.3972A>T
n.5368A>T
n.3789A>T
n.3615A>T
c.3788A>T
c.2093A>T
c.5640A>T (p.Lys1880Asn)
c.217A>T
c.5637A>T (p.Lys1879Asn)
c.5610A>T (p.Lys1870Asn)
c.5601A>T (p.Lys1867Asn)
12g.115975298T>CCA6810540MED13Lc.5604A>G (p.Lys1868=)
n.594A>G
n.3972A>G
n.5368A>G
n.3789A>G
n.3615A>G
c.3788A>G
c.2093A>G
c.5640A>G (p.Lys1880=)
c.217A>G
c.5637A>G (p.Lys1879=)
c.5610A>G (p.Lys1870=)
c.5601A>G (p.Lys1867=)
 dbSNP ExAC gnomAD v2
12g.115975298T>GCA386878668MED13Lc.5604A>C (p.Lys1868Asn)
n.594A>C
n.3972A>C
n.5368A>C
n.3789A>C
n.3615A>C
c.3788A>C
c.2093A>C
c.5640A>C (p.Lys1880Asn)
c.217A>C
c.5637A>C (p.Lys1879Asn)
c.5610A>C (p.Lys1870Asn)
c.5601A>C (p.Lys1867Asn)
12g.115975298T=CA2065412925MED13Lc.5604A= (p.Lys1868=)
n.594A=
n.3972A=
n.5368A=
n.3789A=
n.3615A=
c.3788A=
c.2093A=
c.5640A= (p.Lys1880=)
c.217A=
c.5637A= (p.Lys1879=)
c.5610A= (p.Lys1870=)
c.5601A= (p.Lys1867=)
12g.115975299T>ACA386878671MED13Lc.5603A>T (p.Lys1868Ile)
n.593A>T
n.3971A>T
n.5367A>T
n.3788A>T
n.3614A>T
c.3787A>T
c.2092A>T
c.5639A>T (p.Lys1880Ile)
c.216A>T
c.5636A>T (p.Lys1879Ile)
c.5609A>T (p.Lys1870Ile)
c.5600A>T (p.Lys1867Ile)
12g.115975299T>CCA386878672MED13Lc.5603A>G (p.Lys1868Arg)
n.593A>G
n.3971A>G
n.5367A>G
n.3788A>G
n.3614A>G
c.3787A>G
c.2092A>G
c.5639A>G (p.Lys1880Arg)
c.216A>G
c.5636A>G (p.Lys1879Arg)
c.5609A>G (p.Lys1870Arg)
c.5600A>G (p.Lys1867Arg)
 ClinVar gnomAD v4
12g.115975299T>GCA244136216MED13Lc.5603A>C (p.Lys1868Thr)
n.593A>C
n.3971A>C
n.5367A>C
n.3788A>C
n.3614A>C
c.3787A>C
c.2092A>C
c.5639A>C (p.Lys1880Thr)
c.216A>C
c.5636A>C (p.Lys1879Thr)
c.5609A>C (p.Lys1870Thr)
c.5600A>C (p.Lys1867Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.115975299T=CA2065412926MED13Lc.5603A= (p.Lys1868=)
n.593A=
n.3971A=
n.5367A=
n.3788A=
n.3614A=
c.3787A=
c.2092A=
c.5639A= (p.Lys1880=)
c.216A=
c.5636A= (p.Lys1879=)
c.5609A= (p.Lys1870=)
c.5600A= (p.Lys1867=)
12g.115975300T>ACA386878678MED13Lc.5602A>T (p.Lys1868Ter)
n.592A>T
n.3970A>T
n.5366A>T
n.3787A>T
n.3613A>T
c.3786A>T
c.2091A>T
c.5638A>T (p.Lys1880Ter)
c.215A>T
c.5635A>T (p.Lys1879Ter)
c.5608A>T (p.Lys1870Ter)
c.5599A>T (p.Lys1867Ter)
12g.115975300T>CCA386878680MED13Lc.5602A>G (p.Lys1868Glu)
n.592A>G
n.3970A>G
n.5366A>G
n.3787A>G
n.3613A>G
c.3786A>G
c.2091A>G
c.5638A>G (p.Lys1880Glu)
c.215A>G
c.5635A>G (p.Lys1879Glu)
c.5608A>G (p.Lys1870Glu)
c.5599A>G (p.Lys1867Glu)

Number of alleles fetched