Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.112840128_112843000delCA2582341313APCc.4588_7460del (p.Asp1530Ter)
c.*4540_*7412del (n.*4540_*7412del)
c.4480_7352del (p.Asp1494Ter)
c.4534_7406del (p.Asp1512Ter)
c.230+11156_231-13649del
c.4564_7436del (p.Asp1522Ter)
c.4459_7331del (p.Asp1487Ter)
c.4450_7322del (p.Asp1484Ter)
c.4411_7283del (p.Asp1471Ter)
c.4357_7229del (p.Asp1453Ter)
c.4261_7133del (p.Asp1421Ter)
c.4231_7103del (p.Asp1411Ter)
c.4156_7028del (p.Asp1386Ter)
c.4054_6926del (p.Asp1352Ter)
c.3685_6557del (p.Asp1229Ter)
ClinVar
5g.112841428_112841432dupCA2580072765APCc.5888_5892dup (p.Thr1965GlnfsTer25)
c.*5840_*5844dup (n.*5840_*5844dup)
c.5780_5784dup (p.Thr1929GlnfsTer25)
c.5834_5838dup (p.Thr1947GlnfsTer25)
c.*5156_*5160dup (n.*5156_*5160dup)
c.230+12456_230+12460dup
c.5864_5868dup (p.Thr1957GlnfsTer25)
c.5759_5763dup (p.Thr1922GlnfsTer25)
c.5750_5754dup (p.Thr1919GlnfsTer25)
c.5711_5715dup (p.Thr1906GlnfsTer25)
c.5657_5661dup (p.Thr1888GlnfsTer25)
c.5561_5565dup (p.Thr1856GlnfsTer25)
c.5531_5535dup (p.Thr1846GlnfsTer25)
c.5456_5460dup (p.Thr1821GlnfsTer25)
c.5354_5358dup (p.Thr1787GlnfsTer25)
c.4985_4989dup (p.Thr1664GlnfsTer25)
ClinVar
5g.112841430G>ACA16034096APCc.5890G>A (p.Ala1964Thr)
c.*5842G>A (n.*5842G>A)
c.5782G>A (p.Ala1928Thr)
c.5836G>A (p.Ala1946Thr)
c.*5158G>A (n.*5158G>A)
c.230+12458G>A
c.5866G>A (p.Ala1956Thr)
c.5761G>A (p.Ala1921Thr)
c.5752G>A (p.Ala1918Thr)
c.5713G>A (p.Ala1905Thr)
c.5659G>A (p.Ala1887Thr)
c.5563G>A (p.Ala1855Thr)
c.5533G>A (p.Ala1845Thr)
c.5458G>A (p.Ala1820Thr)
c.5356G>A (p.Ala1786Thr)
c.4987G>A (p.Ala1663Thr)
ClinVar dbSNP
5g.112841430G>CCA16034097APCc.5890G>C (p.Ala1964Pro)
c.*5842G>C (n.*5842G>C)
c.5782G>C (p.Ala1928Pro)
c.5836G>C (p.Ala1946Pro)
c.*5158G>C (n.*5158G>C)
c.230+12458G>C
c.5866G>C (p.Ala1956Pro)
c.5761G>C (p.Ala1921Pro)
c.5752G>C (p.Ala1918Pro)
c.5713G>C (p.Ala1905Pro)
c.5659G>C (p.Ala1887Pro)
c.5563G>C (p.Ala1855Pro)
c.5533G>C (p.Ala1845Pro)
c.5458G>C (p.Ala1820Pro)
c.5356G>C (p.Ala1786Pro)
c.4987G>C (p.Ala1663Pro)
5g.112841430G=CA1573478936APCc.5890G= (p.Ala1964=)
c.*5842G= (n.*5842G=)
c.5782G= (p.Ala1928=)
c.5836G= (p.Ala1946=)
c.*5158G= (n.*5158G=)
c.230+12458G=
c.5866G= (p.Ala1956=)
c.5761G= (p.Ala1921=)
c.5752G= (p.Ala1918=)
c.5713G= (p.Ala1905=)
c.5659G= (p.Ala1887=)
c.5563G= (p.Ala1855=)
c.5533G= (p.Ala1845=)
c.5458G= (p.Ala1820=)
c.5356G= (p.Ala1786=)
c.4987G= (p.Ala1663=)
5g.112841430G>TCA16034098APCc.5890G>T (p.Ala1964Ser)
c.*5842G>T (n.*5842G>T)
c.5782G>T (p.Ala1928Ser)
c.5836G>T (p.Ala1946Ser)
c.*5158G>T (n.*5158G>T)
c.230+12458G>T
c.5866G>T (p.Ala1956Ser)
c.5761G>T (p.Ala1921Ser)
c.5752G>T (p.Ala1918Ser)
c.5713G>T (p.Ala1905Ser)
c.5659G>T (p.Ala1887Ser)
c.5563G>T (p.Ala1855Ser)
c.5533G>T (p.Ala1845Ser)
c.5458G>T (p.Ala1820Ser)
c.5356G>T (p.Ala1786Ser)
c.4987G>T (p.Ala1663Ser)
5g.112841431C>ACA16034099APCc.5891C>A (p.Ala1964Glu)
c.*5843C>A (n.*5843C>A)
c.5783C>A (p.Ala1928Glu)
c.5837C>A (p.Ala1946Glu)
c.*5159C>A (n.*5159C>A)
c.230+12459C>A
c.5867C>A (p.Ala1956Glu)
c.5762C>A (p.Ala1921Glu)
c.5753C>A (p.Ala1918Glu)
c.5714C>A (p.Ala1905Glu)
c.5660C>A (p.Ala1887Glu)
c.5564C>A (p.Ala1855Glu)
c.5534C>A (p.Ala1845Glu)
c.5459C>A (p.Ala1820Glu)
c.5357C>A (p.Ala1786Glu)
c.4988C>A (p.Ala1663Glu)
ClinVar dbSNP
5g.112841431C>GCA16034100APCc.5891C>G (p.Ala1964Gly)
c.*5843C>G (n.*5843C>G)
c.5783C>G (p.Ala1928Gly)
c.5837C>G (p.Ala1946Gly)
c.*5159C>G (n.*5159C>G)
c.230+12459C>G
c.5867C>G (p.Ala1956Gly)
c.5762C>G (p.Ala1921Gly)
c.5753C>G (p.Ala1918Gly)
c.5714C>G (p.Ala1905Gly)
c.5660C>G (p.Ala1887Gly)
c.5564C>G (p.Ala1855Gly)
c.5534C>G (p.Ala1845Gly)
c.5459C>G (p.Ala1820Gly)
c.5357C>G (p.Ala1786Gly)
c.4988C>G (p.Ala1663Gly)
dbSNP
5g.112841431C>TCA16034101APCc.5891C>T (p.Ala1964Val)
c.*5843C>T (n.*5843C>T)
c.5783C>T (p.Ala1928Val)
c.5837C>T (p.Ala1946Val)
c.*5159C>T (n.*5159C>T)
c.230+12459C>T
c.5867C>T (p.Ala1956Val)
c.5762C>T (p.Ala1921Val)
c.5753C>T (p.Ala1918Val)
c.5714C>T (p.Ala1905Val)
c.5660C>T (p.Ala1887Val)
c.5564C>T (p.Ala1855Val)
c.5534C>T (p.Ala1845Val)
c.5459C>T (p.Ala1820Val)
c.5357C>T (p.Ala1786Val)
c.4988C>T (p.Ala1663Val)
dbSNP COSMIC
5g.112841431_112841432delinsCACA1573478939APCc.5891_5892delinsCA (p.Ala1964=)
c.*5843_*5844delinsCA (n.*5843_*5844delinsCA)
c.5783_5784delinsCA (p.Ala1928=)
c.5837_5838delinsCA (p.Ala1946=)
c.*5159_*5160delinsCA (n.*5159_*5160delinsCA)
c.230+12459_230+12460delinsCA
c.5867_5868delinsCA (p.Ala1956=)
c.5762_5763delinsCA (p.Ala1921=)
c.5753_5754delinsCA (p.Ala1918=)
c.5714_5715delinsCA (p.Ala1905=)
c.5660_5661delinsCA (p.Ala1887=)
c.5564_5565delinsCA (p.Ala1855=)
c.5534_5535delinsCA (p.Ala1845=)
c.5459_5460delinsCA (p.Ala1820=)
c.5357_5358delinsCA (p.Ala1786=)
c.4988_4989delinsCA (p.Ala1663=)
5g.112841432A>CCA446209854APCc.5892A>C (p.Ala1964=)
c.*5844A>C (n.*5844A>C)
c.5784A>C (p.Ala1928=)
c.5838A>C (p.Ala1946=)
c.*5160A>C (n.*5160A>C)
c.230+12460A>C
c.5868A>C (p.Ala1956=)
c.5763A>C (p.Ala1921=)
c.5754A>C (p.Ala1918=)
c.5715A>C (p.Ala1905=)
c.5661A>C (p.Ala1887=)
c.5565A>C (p.Ala1855=)
c.5535A>C (p.Ala1845=)
c.5460A>C (p.Ala1820=)
c.5358A>C (p.Ala1786=)
c.4989A>C (p.Ala1663=)
5g.112841432A>GCA446209855APCc.5892A>G (p.Ala1964=)
c.*5844A>G (n.*5844A>G)
c.5784A>G (p.Ala1928=)
c.5838A>G (p.Ala1946=)
c.*5160A>G (n.*5160A>G)
c.230+12460A>G
c.5868A>G (p.Ala1956=)
c.5763A>G (p.Ala1921=)
c.5754A>G (p.Ala1918=)
c.5715A>G (p.Ala1905=)
c.5661A>G (p.Ala1887=)
c.5565A>G (p.Ala1855=)
c.5535A>G (p.Ala1845=)
c.5460A>G (p.Ala1820=)
c.5358A>G (p.Ala1786=)
c.4989A>G (p.Ala1663=)
dbSNP
5g.112841432A>TCA446209856APCc.5892A>T (p.Ala1964=)
c.*5844A>T (n.*5844A>T)
c.5784A>T (p.Ala1928=)
c.5838A>T (p.Ala1946=)
c.*5160A>T (n.*5160A>T)
c.230+12460A>T
c.5868A>T (p.Ala1956=)
c.5763A>T (p.Ala1921=)
c.5754A>T (p.Ala1918=)
c.5715A>T (p.Ala1905=)
c.5661A>T (p.Ala1887=)
c.5565A>T (p.Ala1855=)
c.5535A>T (p.Ala1845=)
c.5460A>T (p.Ala1820=)
c.5358A>T (p.Ala1786=)
c.4989A>T (p.Ala1663=)
dbSNP
5g.112841433delCA16618092APCc.5893del (p.Thr1965LeufsTer23)
c.*5845del (n.*5845del)
c.5785del (p.Thr1929LeufsTer23)
c.5839del (p.Thr1947LeufsTer23)
c.*5161del (n.*5161del)
c.230+12461del
c.5869del (p.Thr1957LeufsTer23)
c.5764del (p.Thr1922LeufsTer23)
c.5755del (p.Thr1919LeufsTer23)
c.5716del (p.Thr1906LeufsTer23)
c.5662del (p.Thr1888LeufsTer23)
c.5566del (p.Thr1856LeufsTer23)
c.5536del (p.Thr1846LeufsTer23)
c.5461del (p.Thr1821LeufsTer23)
c.5359del (p.Thr1787LeufsTer23)
c.4990del (p.Thr1664LeufsTer23)
ClinVar dbSNP
5g.112841433A=CA1573478955APCc.5893A= (p.Thr1965=)
c.*5845A= (n.*5845A=)
c.5785A= (p.Thr1929=)
c.5839A= (p.Thr1947=)
c.*5161A= (n.*5161A=)
c.230+12461A=
c.5869A= (p.Thr1957=)
c.5764A= (p.Thr1922=)
c.5755A= (p.Thr1919=)
c.5716A= (p.Thr1906=)
c.5662A= (p.Thr1888=)
c.5566A= (p.Thr1856=)
c.5536A= (p.Thr1846=)
c.5461A= (p.Thr1821=)
c.5359A= (p.Thr1787=)
c.4990A= (p.Thr1664=)
5g.112841433A>CCA16034102APCc.5893A>C (p.Thr1965Pro)
c.*5845A>C (n.*5845A>C)
c.5785A>C (p.Thr1929Pro)
c.5839A>C (p.Thr1947Pro)
c.*5161A>C (n.*5161A>C)
c.230+12461A>C
c.5869A>C (p.Thr1957Pro)
c.5764A>C (p.Thr1922Pro)
c.5755A>C (p.Thr1919Pro)
c.5716A>C (p.Thr1906Pro)
c.5662A>C (p.Thr1888Pro)
c.5566A>C (p.Thr1856Pro)
c.5536A>C (p.Thr1846Pro)
c.5461A>C (p.Thr1821Pro)
c.5359A>C (p.Thr1787Pro)
c.4990A>C (p.Thr1664Pro)
ClinVar dbSNP gnomAD v4
5g.112841433A>GCA010734APCc.5893A>G (p.Thr1965Ala)
c.*5845A>G (n.*5845A>G)
c.5785A>G (p.Thr1929Ala)
c.5839A>G (p.Thr1947Ala)
c.*5161A>G (n.*5161A>G)
c.230+12461A>G
c.5869A>G (p.Thr1957Ala)
c.5764A>G (p.Thr1922Ala)
c.5755A>G (p.Thr1919Ala)
c.5716A>G (p.Thr1906Ala)
c.5662A>G (p.Thr1888Ala)
c.5566A>G (p.Thr1856Ala)
c.5536A>G (p.Thr1846Ala)
c.5461A>G (p.Thr1821Ala)
c.5359A>G (p.Thr1787Ala)
c.4990A>G (p.Thr1664Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112841433A>TCA16034103APCc.5893A>T (p.Thr1965Ser)
c.*5845A>T (n.*5845A>T)
c.5785A>T (p.Thr1929Ser)
c.5839A>T (p.Thr1947Ser)
c.*5161A>T (n.*5161A>T)
c.230+12461A>T
c.5869A>T (p.Thr1957Ser)
c.5764A>T (p.Thr1922Ser)
c.5755A>T (p.Thr1919Ser)
c.5716A>T (p.Thr1906Ser)
c.5662A>T (p.Thr1888Ser)
c.5566A>T (p.Thr1856Ser)
c.5536A>T (p.Thr1846Ser)
c.5461A>T (p.Thr1821Ser)
c.5359A>T (p.Thr1787Ser)
c.4990A>T (p.Thr1664Ser)
dbSNP
5g.112841434C>ACA16034104APCc.5894C>A (p.Thr1965Asn)
c.*5846C>A (n.*5846C>A)
c.5786C>A (p.Thr1929Asn)
c.5840C>A (p.Thr1947Asn)
c.*5162C>A (n.*5162C>A)
c.230+12462C>A
c.5870C>A (p.Thr1957Asn)
c.5765C>A (p.Thr1922Asn)
c.5756C>A (p.Thr1919Asn)
c.5717C>A (p.Thr1906Asn)
c.5663C>A (p.Thr1888Asn)
c.5567C>A (p.Thr1856Asn)
c.5537C>A (p.Thr1846Asn)
c.5462C>A (p.Thr1821Asn)
c.5360C>A (p.Thr1787Asn)
c.4991C>A (p.Thr1664Asn)
ClinVar dbSNP
5g.112841434C=CA1573478963APCc.5894C= (p.Thr1965=)
c.*5846C= (n.*5846C=)
c.5786C= (p.Thr1929=)
c.5840C= (p.Thr1947=)
c.*5162C= (n.*5162C=)
c.230+12462C=
c.5870C= (p.Thr1957=)
c.5765C= (p.Thr1922=)
c.5756C= (p.Thr1919=)
c.5717C= (p.Thr1906=)
c.5663C= (p.Thr1888=)
c.5567C= (p.Thr1856=)
c.5537C= (p.Thr1846=)
c.5462C= (p.Thr1821=)
c.5360C= (p.Thr1787=)
c.4991C= (p.Thr1664=)
5g.112841434C>GCA043197APCc.5894C>G (p.Thr1965Ser)
c.*5846C>G (n.*5846C>G)
c.5786C>G (p.Thr1929Ser)
c.5840C>G (p.Thr1947Ser)
c.*5162C>G (n.*5162C>G)
c.230+12462C>G
c.5870C>G (p.Thr1957Ser)
c.5765C>G (p.Thr1922Ser)
c.5756C>G (p.Thr1919Ser)
c.5717C>G (p.Thr1906Ser)
c.5663C>G (p.Thr1888Ser)
c.5567C>G (p.Thr1856Ser)
c.5537C>G (p.Thr1846Ser)
c.5462C>G (p.Thr1821Ser)
c.5360C>G (p.Thr1787Ser)
c.4991C>G (p.Thr1664Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112841434C>TCA16034105APCc.5894C>T (p.Thr1965Ile)
c.*5846C>T (n.*5846C>T)
c.5786C>T (p.Thr1929Ile)
c.5840C>T (p.Thr1947Ile)
c.*5162C>T (n.*5162C>T)
c.230+12462C>T
c.5870C>T (p.Thr1957Ile)
c.5765C>T (p.Thr1922Ile)
c.5756C>T (p.Thr1919Ile)
c.5717C>T (p.Thr1906Ile)
c.5663C>T (p.Thr1888Ile)
c.5567C>T (p.Thr1856Ile)
c.5537C>T (p.Thr1846Ile)
c.5462C>T (p.Thr1821Ile)
c.5360C>T (p.Thr1787Ile)
c.4991C>T (p.Thr1664Ile)
ClinVar dbSNP
5g.112841435T>ACA446209860APCc.5895T>A (p.Thr1965=)
c.*5847T>A (n.*5847T>A)
c.5787T>A (p.Thr1929=)
c.5841T>A (p.Thr1947=)
c.*5163T>A (n.*5163T>A)
c.230+12463T>A
c.5871T>A (p.Thr1957=)
c.5766T>A (p.Thr1922=)
c.5757T>A (p.Thr1919=)
c.5718T>A (p.Thr1906=)
c.5664T>A (p.Thr1888=)
c.5568T>A (p.Thr1856=)
c.5538T>A (p.Thr1846=)
c.5463T>A (p.Thr1821=)
c.5361T>A (p.Thr1787=)
c.4992T>A (p.Thr1664=)
dbSNP
5g.112841435T>CCA446209861APCc.5895T>C (p.Thr1965=)
c.*5847T>C (n.*5847T>C)
c.5787T>C (p.Thr1929=)
c.5841T>C (p.Thr1947=)
c.*5163T>C (n.*5163T>C)
c.230+12463T>C
c.5871T>C (p.Thr1957=)
c.5766T>C (p.Thr1922=)
c.5757T>C (p.Thr1919=)
c.5718T>C (p.Thr1906=)
c.5664T>C (p.Thr1888=)
c.5568T>C (p.Thr1856=)
c.5538T>C (p.Thr1846=)
c.5463T>C (p.Thr1821=)
c.5361T>C (p.Thr1787=)
c.4992T>C (p.Thr1664=)
ClinVar dbSNP gnomAD v2
5g.112841435T>GCA446209862APCc.5895T>G (p.Thr1965=)
c.*5847T>G (n.*5847T>G)
c.5787T>G (p.Thr1929=)
c.5841T>G (p.Thr1947=)
c.*5163T>G (n.*5163T>G)
c.230+12463T>G
c.5871T>G (p.Thr1957=)
c.5766T>G (p.Thr1922=)
c.5757T>G (p.Thr1919=)
c.5718T>G (p.Thr1906=)
c.5664T>G (p.Thr1888=)
c.5568T>G (p.Thr1856=)
c.5538T>G (p.Thr1846=)
c.5463T>G (p.Thr1821=)
c.5361T>G (p.Thr1787=)
c.4992T>G (p.Thr1664=)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
5g.112841435T=CA1573478969APCc.5895T= (p.Thr1965=)
c.*5847T= (n.*5847T=)
c.5787T= (p.Thr1929=)
c.5841T= (p.Thr1947=)
c.*5163T= (n.*5163T=)
c.230+12463T=
c.5871T= (p.Thr1957=)
c.5766T= (p.Thr1922=)
c.5757T= (p.Thr1919=)
c.5718T= (p.Thr1906=)
c.5664T= (p.Thr1888=)
c.5568T= (p.Thr1856=)
c.5538T= (p.Thr1846=)
c.5463T= (p.Thr1821=)
c.5361T= (p.Thr1787=)
c.4992T= (p.Thr1664=)
5g.112841436G>ACA16034106APCc.5896G>A (p.Asp1966Asn)
c.*5848G>A (n.*5848G>A)
c.5788G>A (p.Asp1930Asn)
c.5842G>A (p.Asp1948Asn)
c.*5164G>A (n.*5164G>A)
c.230+12464G>A
c.5872G>A (p.Asp1958Asn)
c.5767G>A (p.Asp1923Asn)
c.5758G>A (p.Asp1920Asn)
c.5719G>A (p.Asp1907Asn)
c.5665G>A (p.Asp1889Asn)
c.5569G>A (p.Asp1857Asn)
c.5539G>A (p.Asp1847Asn)
c.5464G>A (p.Asp1822Asn)
c.5362G>A (p.Asp1788Asn)
c.4993G>A (p.Asp1665Asn)
ClinVar dbSNP
5g.112841436G>CCA16034107APCc.5896G>C (p.Asp1966His)
c.*5848G>C (n.*5848G>C)
c.5788G>C (p.Asp1930His)
c.5842G>C (p.Asp1948His)
c.*5164G>C (n.*5164G>C)
c.230+12464G>C
c.5872G>C (p.Asp1958His)
c.5767G>C (p.Asp1923His)
c.5758G>C (p.Asp1920His)
c.5719G>C (p.Asp1907His)
c.5665G>C (p.Asp1889His)
c.5569G>C (p.Asp1857His)
c.5539G>C (p.Asp1847His)
c.5464G>C (p.Asp1822His)
c.5362G>C (p.Asp1788His)
c.4993G>C (p.Asp1665His)
dbSNP
5g.112841436G=CA1573478974APCc.5896G= (p.Asp1966=)
c.*5848G= (n.*5848G=)
c.5788G= (p.Asp1930=)
c.5842G= (p.Asp1948=)
c.*5164G= (n.*5164G=)
c.230+12464G=
c.5872G= (p.Asp1958=)
c.5767G= (p.Asp1923=)
c.5758G= (p.Asp1920=)
c.5719G= (p.Asp1907=)
c.5665G= (p.Asp1889=)
c.5569G= (p.Asp1857=)
c.5539G= (p.Asp1847=)
c.5464G= (p.Asp1822=)
c.5362G= (p.Asp1788=)
c.4993G= (p.Asp1665=)
5g.112841436G>TCA16034108APCc.5896G>T (p.Asp1966Tyr)
c.*5848G>T (n.*5848G>T)
c.5788G>T (p.Asp1930Tyr)
c.5842G>T (p.Asp1948Tyr)
c.*5164G>T (n.*5164G>T)
c.230+12464G>T
c.5872G>T (p.Asp1958Tyr)
c.5767G>T (p.Asp1923Tyr)
c.5758G>T (p.Asp1920Tyr)
c.5719G>T (p.Asp1907Tyr)
c.5665G>T (p.Asp1889Tyr)
c.5569G>T (p.Asp1857Tyr)
c.5539G>T (p.Asp1847Tyr)
c.5464G>T (p.Asp1822Tyr)
c.5362G>T (p.Asp1788Tyr)
c.4993G>T (p.Asp1665Tyr)
dbSNP
5g.112841437A>CCA16034109APCc.5897A>C (p.Asp1966Ala)
c.*5849A>C (n.*5849A>C)
c.5789A>C (p.Asp1930Ala)
c.5843A>C (p.Asp1948Ala)
c.*5165A>C (n.*5165A>C)
c.230+12465A>C
c.5873A>C (p.Asp1958Ala)
c.5768A>C (p.Asp1923Ala)
c.5759A>C (p.Asp1920Ala)
c.5720A>C (p.Asp1907Ala)
c.5666A>C (p.Asp1889Ala)
c.5570A>C (p.Asp1857Ala)
c.5540A>C (p.Asp1847Ala)
c.5465A>C (p.Asp1822Ala)
c.5363A>C (p.Asp1788Ala)
c.4994A>C (p.Asp1665Ala)
gnomAD v4
5g.112841437A>GCA16034110APCc.5897A>G (p.Asp1966Gly)
c.*5849A>G (n.*5849A>G)
c.5789A>G (p.Asp1930Gly)
c.5843A>G (p.Asp1948Gly)
c.*5165A>G (n.*5165A>G)
c.230+12465A>G
c.5873A>G (p.Asp1958Gly)
c.5768A>G (p.Asp1923Gly)
c.5759A>G (p.Asp1920Gly)
c.5720A>G (p.Asp1907Gly)
c.5666A>G (p.Asp1889Gly)
c.5570A>G (p.Asp1857Gly)
c.5540A>G (p.Asp1847Gly)
c.5465A>G (p.Asp1822Gly)
c.5363A>G (p.Asp1788Gly)
c.4994A>G (p.Asp1665Gly)
ClinVar dbSNP gnomAD v4
5g.112841437A>TCA16034111APCc.5897A>T (p.Asp1966Val)
c.*5849A>T (n.*5849A>T)
c.5789A>T (p.Asp1930Val)
c.5843A>T (p.Asp1948Val)
c.*5165A>T (n.*5165A>T)
c.230+12465A>T
c.5873A>T (p.Asp1958Val)
c.5768A>T (p.Asp1923Val)
c.5759A>T (p.Asp1920Val)
c.5720A>T (p.Asp1907Val)
c.5666A>T (p.Asp1889Val)
c.5570A>T (p.Asp1857Val)
c.5540A>T (p.Asp1847Val)
c.5465A>T (p.Asp1822Val)
c.5363A>T (p.Asp1788Val)
c.4994A>T (p.Asp1665Val)
dbSNP
5g.112841438T>ACA16034112APCc.5898T>A (p.Asp1966Glu)
c.*5850T>A (n.*5850T>A)
c.5790T>A (p.Asp1930Glu)
c.5844T>A (p.Asp1948Glu)
c.*5166T>A (n.*5166T>A)
c.230+12466T>A
c.5874T>A (p.Asp1958Glu)
c.5769T>A (p.Asp1923Glu)
c.5760T>A (p.Asp1920Glu)
c.5721T>A (p.Asp1907Glu)
c.5667T>A (p.Asp1889Glu)
c.5571T>A (p.Asp1857Glu)
c.5541T>A (p.Asp1847Glu)
c.5466T>A (p.Asp1822Glu)
c.5364T>A (p.Asp1788Glu)
c.4995T>A (p.Asp1665Glu)
ClinVar dbSNP
5g.112841438T>CCA446209865APCc.5898T>C (p.Asp1966=)
c.*5850T>C (n.*5850T>C)
c.5790T>C (p.Asp1930=)
c.5844T>C (p.Asp1948=)
c.*5166T>C (n.*5166T>C)
c.230+12466T>C
c.5874T>C (p.Asp1958=)
c.5769T>C (p.Asp1923=)
c.5760T>C (p.Asp1920=)
c.5721T>C (p.Asp1907=)
c.5667T>C (p.Asp1889=)
c.5571T>C (p.Asp1857=)
c.5541T>C (p.Asp1847=)
c.5466T>C (p.Asp1822=)
c.5364T>C (p.Asp1788=)
c.4995T>C (p.Asp1665=)
dbSNP
5g.112841438T>GCA16034113APCc.5898T>G (p.Asp1966Glu)
c.*5850T>G (n.*5850T>G)
c.5790T>G (p.Asp1930Glu)
c.5844T>G (p.Asp1948Glu)
c.*5166T>G (n.*5166T>G)
c.230+12466T>G
c.5874T>G (p.Asp1958Glu)
c.5769T>G (p.Asp1923Glu)
c.5760T>G (p.Asp1920Glu)
c.5721T>G (p.Asp1907Glu)
c.5667T>G (p.Asp1889Glu)
c.5571T>G (p.Asp1857Glu)
c.5541T>G (p.Asp1847Glu)
c.5466T>G (p.Asp1822Glu)
c.5364T>G (p.Asp1788Glu)
c.4995T>G (p.Asp1665Glu)
ClinVar dbSNP
5g.112841438T=CA1573478980APCc.5898T= (p.Asp1966=)
c.*5850T= (n.*5850T=)
c.5790T= (p.Asp1930=)
c.5844T= (p.Asp1948=)
c.*5166T= (n.*5166T=)
c.230+12466T=
c.5874T= (p.Asp1958=)
c.5769T= (p.Asp1923=)
c.5760T= (p.Asp1920=)
c.5721T= (p.Asp1907=)
c.5667T= (p.Asp1889=)
c.5571T= (p.Asp1857=)
c.5541T= (p.Asp1847=)
c.5466T= (p.Asp1822=)
c.5364T= (p.Asp1788=)
c.4995T= (p.Asp1665=)
5g.112841438_112841439delinsGGAAAACA010742APCc.5898_5899delinsGGAAAA (p.Asp1966GlufsTer11)
c.*5850_*5851delinsGGAAAA (n.*5850_*5851delinsGGAAAA)
c.5790_5791delinsGGAAAA (p.Asp1930GlufsTer11)
c.5844_5845delinsGGAAAA (p.Asp1948GlufsTer11)
c.*5166_*5167delinsGGAAAA (n.*5166_*5167delinsGGAAAA)
c.230+12466_230+12467delinsGGAAAA
c.5874_5875delinsGGAAAA (p.Asp1958GlufsTer11)
c.5769_5770delinsGGAAAA (p.Asp1923GlufsTer11)
c.5760_5761delinsGGAAAA (p.Asp1920GlufsTer11)
c.5721_5722delinsGGAAAA (p.Asp1907GlufsTer11)
c.5667_5668delinsGGAAAA (p.Asp1889GlufsTer11)
c.5571_5572delinsGGAAAA (p.Asp1857GlufsTer11)
c.5541_5542delinsGGAAAA (p.Asp1847GlufsTer11)
c.5466_5467delinsGGAAAA (p.Asp1822GlufsTer11)
c.5364_5365delinsGGAAAA (p.Asp1788GlufsTer11)
c.4995_4996delinsGGAAAA (p.Asp1665GlufsTer11)
5g.112841438_112841444delinsGGAAAACA2695205074APCc.5898_5904delinsGGAAAA (p.Asp1966GlufsTer22)
c.*5850_*5856delinsGGAAAA (n.*5850_*5856delinsGGAAAA)
c.5790_5796delinsGGAAAA (p.Asp1930GlufsTer22)
c.5844_5850delinsGGAAAA (p.Asp1948GlufsTer22)
c.*5166_*5172delinsGGAAAA (n.*5166_*5172delinsGGAAAA)
c.230+12466_230+12472delinsGGAAAA
c.5874_5880delinsGGAAAA (p.Asp1958GlufsTer22)
c.5769_5775delinsGGAAAA (p.Asp1923GlufsTer22)
c.5760_5766delinsGGAAAA (p.Asp1920GlufsTer22)
c.5721_5727delinsGGAAAA (p.Asp1907GlufsTer22)
c.5667_5673delinsGGAAAA (p.Asp1889GlufsTer22)
c.5571_5577delinsGGAAAA (p.Asp1857GlufsTer22)
c.5541_5547delinsGGAAAA (p.Asp1847GlufsTer22)
c.5466_5472delinsGGAAAA (p.Asp1822GlufsTer22)
c.5364_5370delinsGGAAAA (p.Asp1788GlufsTer22)
c.4995_5001delinsGGAAAA (p.Asp1665GlufsTer22)
5g.112841439G>ACA16034114APCc.5899G>A (p.Glu1967Lys)
c.*5851G>A (n.*5851G>A)
c.5791G>A (p.Glu1931Lys)
c.5845G>A (p.Glu1949Lys)
c.*5167G>A (n.*5167G>A)
c.230+12467G>A
c.5875G>A (p.Glu1959Lys)
c.5770G>A (p.Glu1924Lys)
c.5761G>A (p.Glu1921Lys)
c.5722G>A (p.Glu1908Lys)
c.5668G>A (p.Glu1890Lys)
c.5572G>A (p.Glu1858Lys)
c.5542G>A (p.Glu1848Lys)
c.5467G>A (p.Glu1823Lys)
c.5365G>A (p.Glu1789Lys)
c.4996G>A (p.Glu1666Lys)
ClinVar dbSNP
5g.112841439G>CCA16034115APCc.5899G>C (p.Glu1967Gln)
c.*5851G>C (n.*5851G>C)
c.5791G>C (p.Glu1931Gln)
c.5845G>C (p.Glu1949Gln)
c.*5167G>C (n.*5167G>C)
c.230+12467G>C
c.5875G>C (p.Glu1959Gln)
c.5770G>C (p.Glu1924Gln)
c.5761G>C (p.Glu1921Gln)
c.5722G>C (p.Glu1908Gln)
c.5668G>C (p.Glu1890Gln)
c.5572G>C (p.Glu1858Gln)
c.5542G>C (p.Glu1848Gln)
c.5467G>C (p.Glu1823Gln)
c.5365G>C (p.Glu1789Gln)
c.4996G>C (p.Glu1666Gln)
dbSNP
5g.112841439G=CA1573478989APCc.5899G= (p.Glu1967=)
c.*5851G= (n.*5851G=)
c.5791G= (p.Glu1931=)
c.5845G= (p.Glu1949=)
c.*5167G= (n.*5167G=)
c.230+12467G=
c.5875G= (p.Glu1959=)
c.5770G= (p.Glu1924=)
c.5761G= (p.Glu1921=)
c.5722G= (p.Glu1908=)
c.5668G= (p.Glu1890=)
c.5572G= (p.Glu1858=)
c.5542G= (p.Glu1848=)
c.5467G= (p.Glu1823=)
c.5365G= (p.Glu1789=)
c.4996G= (p.Glu1666=)
5g.112841439G>TCA16034116APCc.5899G>T (p.Glu1967Ter)
c.*5851G>T (n.*5851G>T)
c.5791G>T (p.Glu1931Ter)
c.5845G>T (p.Glu1949Ter)
c.*5167G>T (n.*5167G>T)
c.230+12467G>T
c.5875G>T (p.Glu1959Ter)
c.5770G>T (p.Glu1924Ter)
c.5761G>T (p.Glu1921Ter)
c.5722G>T (p.Glu1908Ter)
c.5668G>T (p.Glu1890Ter)
c.5572G>T (p.Glu1858Ter)
c.5542G>T (p.Glu1848Ter)
c.5467G>T (p.Glu1823Ter)
c.5365G>T (p.Glu1789Ter)
c.4996G>T (p.Glu1666Ter)
5g.112841440A=CA1573479012APCc.5900A= (p.Glu1967=)
c.*5852A= (n.*5852A=)
c.5792A= (p.Glu1931=)
c.5846A= (p.Glu1949=)
c.*5168A= (n.*5168A=)
c.230+12468A=
c.5876A= (p.Glu1959=)
c.5771A= (p.Glu1924=)
c.5762A= (p.Glu1921=)
c.5723A= (p.Glu1908=)
c.5669A= (p.Glu1890=)
c.5573A= (p.Glu1858=)
c.5543A= (p.Glu1848=)
c.5468A= (p.Glu1823=)
c.5366A= (p.Glu1789=)
c.4997A= (p.Glu1666=)
5g.112841440A>CCA16034117APCc.5900A>C (p.Glu1967Ala)
c.*5852A>C (n.*5852A>C)
c.5792A>C (p.Glu1931Ala)
c.5846A>C (p.Glu1949Ala)
c.*5168A>C (n.*5168A>C)
c.230+12468A>C
c.5876A>C (p.Glu1959Ala)
c.5771A>C (p.Glu1924Ala)
c.5762A>C (p.Glu1921Ala)
c.5723A>C (p.Glu1908Ala)
c.5669A>C (p.Glu1890Ala)
c.5573A>C (p.Glu1858Ala)
c.5543A>C (p.Glu1848Ala)
c.5468A>C (p.Glu1823Ala)
c.5366A>C (p.Glu1789Ala)
c.4997A>C (p.Glu1666Ala)
ClinVar dbSNP
5g.112841440A>GCA16034118APCc.5900A>G (p.Glu1967Gly)
c.*5852A>G (n.*5852A>G)
c.5792A>G (p.Glu1931Gly)
c.5846A>G (p.Glu1949Gly)
c.*5168A>G (n.*5168A>G)
c.230+12468A>G
c.5876A>G (p.Glu1959Gly)
c.5771A>G (p.Glu1924Gly)
c.5762A>G (p.Glu1921Gly)
c.5723A>G (p.Glu1908Gly)
c.5669A>G (p.Glu1890Gly)
c.5573A>G (p.Glu1858Gly)
c.5543A>G (p.Glu1848Gly)
c.5468A>G (p.Glu1823Gly)
c.5366A>G (p.Glu1789Gly)
c.4997A>G (p.Glu1666Gly)
dbSNP
5g.112841440A>TCA16034119APCc.5900A>T (p.Glu1967Val)
c.*5852A>T (n.*5852A>T)
c.5792A>T (p.Glu1931Val)
c.5846A>T (p.Glu1949Val)
c.*5168A>T (n.*5168A>T)
c.230+12468A>T
c.5876A>T (p.Glu1959Val)
c.5771A>T (p.Glu1924Val)
c.5762A>T (p.Glu1921Val)
c.5723A>T (p.Glu1908Val)
c.5669A>T (p.Glu1890Val)
c.5573A>T (p.Glu1858Val)
c.5543A>T (p.Glu1848Val)
c.5468A>T (p.Glu1823Val)
c.5366A>T (p.Glu1789Val)
c.4997A>T (p.Glu1666Val)
dbSNP
5g.112841441A=CA1573479021APCc.5901A= (p.Glu1967=)
c.*5853A= (n.*5853A=)
c.5793A= (p.Glu1931=)
c.5847A= (p.Glu1949=)
c.*5169A= (n.*5169A=)
c.230+12469A=
c.5877A= (p.Glu1959=)
c.5772A= (p.Glu1924=)
c.5763A= (p.Glu1921=)
c.5724A= (p.Glu1908=)
c.5670A= (p.Glu1890=)
c.5574A= (p.Glu1858=)
c.5544A= (p.Glu1848=)
c.5469A= (p.Glu1823=)
c.5367A= (p.Glu1789=)
c.4998A= (p.Glu1666=)
5g.112841441A>CCA16034120APCc.5901A>C (p.Glu1967Asp)
c.*5853A>C (n.*5853A>C)
c.5793A>C (p.Glu1931Asp)
c.5847A>C (p.Glu1949Asp)
c.*5169A>C (n.*5169A>C)
c.230+12469A>C
c.5877A>C (p.Glu1959Asp)
c.5772A>C (p.Glu1924Asp)
c.5763A>C (p.Glu1921Asp)
c.5724A>C (p.Glu1908Asp)
c.5670A>C (p.Glu1890Asp)
c.5574A>C (p.Glu1858Asp)
c.5544A>C (p.Glu1848Asp)
c.5469A>C (p.Glu1823Asp)
c.5367A>C (p.Glu1789Asp)
c.4998A>C (p.Glu1666Asp)
5g.112841441A>GCA446209869APCc.5901A>G (p.Glu1967=)
c.*5853A>G (n.*5853A>G)
c.5793A>G (p.Glu1931=)
c.5847A>G (p.Glu1949=)
c.*5169A>G (n.*5169A>G)
c.230+12469A>G
c.5877A>G (p.Glu1959=)
c.5772A>G (p.Glu1924=)
c.5763A>G (p.Glu1921=)
c.5724A>G (p.Glu1908=)
c.5670A>G (p.Glu1890=)
c.5574A>G (p.Glu1858=)
c.5544A>G (p.Glu1848=)
c.5469A>G (p.Glu1823=)
c.5367A>G (p.Glu1789=)
c.4998A>G (p.Glu1666=)
ClinVar dbSNP gnomAD v4

Number of alleles fetched