Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.113373381G>TCA357943726ANK2c.12025G>T (p.Glu4009Ter)
c.5617G>T (p.Glu1873Ter)
c.2037+3576G>T (n.2037+3576G>T)
c.2716G>T (p.Glu906Ter)
n.3173G>T
n.2381G>T
n.6409G>T
n.1954G>T
n.2594G>T
n.3735+3576G>T
n.1897G>T
n.2290G>T
n.8636G>T
n.3262G>T
n.3472+208G>T
n.4530G>T
n.3773G>T
n.5179G>T
c.11791G>T (p.Glu3931Ter)
c.11629G>T (p.Glu3877Ter)
c.2923G>T (p.Glu975Ter)
c.1339G>T (p.Glu447Ter)
c.5350G>T (p.Glu1784Ter)
c.5530G>T (p.Glu1844Ter)
c.5277+208G>T (n.5277+208G>T)
c.5665G>T (p.Glu1889Ter)
c.5566G>T (p.Glu1856Ter)
c.11665G>T (p.Glu3889Ter)
c.5473G>T (p.Glu1825Ter)
c.5275G>T (p.Glu1759Ter)
c.*1029G>T (n.*1029G>T)
c.11428-1383G>T (n.11428-1383G>T)
c.5055+208G>T (n.5055+208G>T)
c.11605G>T (p.Glu3869Ter)
c.5251G>T (p.Glu1751Ter)
c.11836G>T (p.Glu3946Ter)
c.5374G>T (p.Glu1792Ter)
c.11722G>T (p.Glu3908Ter)
c.5386G>T (p.Glu1796Ter)
c.5371G>T (p.Glu1791Ter)
c.11872G>T (p.Glu3958Ter)
c.5262+208G>T (n.5262+208G>T)
c.11593G>T (p.Glu3865Ter)
c.5292+3576G>T (n.5292+3576G>T)
c.5311G>T (p.Glu1771Ter)
c.5602G>T (p.Glu1868Ter)
c.5437G>T (p.Glu1813Ter)
c.3003+208G>T (n.3003+208G>T)
c.11692G>T (p.Glu3898Ter)
c.5469+208G>T (n.5469+208G>T)
c.5253+208G>T (n.5253+208G>T)
c.5581G>T (p.Glu1861Ter)
c.5467G>T (p.Glu1823Ter)
c.11728G>T (p.Glu3910Ter)
c.5338G>T (p.Glu1780Ter)
c.11532+208G>T (n.11532+208G>T)
c.11530G>T (p.Glu3844Ter)
c.5410G>T (p.Glu1804Ter)
c.4954G>T (p.Glu1652Ter)
c.3085G>T (p.Glu1029Ter)
c.11506G>T (p.Glu3836Ter)
c.3100G>T (p.Glu1034Ter)
c.11448+3576G>T (n.11448+3576G>T)
c.3064G>T (p.Glu1022Ter)
c.11737G>T (p.Glu3913Ter)
c.5298+208G>T (n.5298+208G>T)
c.5044G>T (p.Glu1682Ter)
c.11625+208G>T (n.11625+208G>T)
c.11566G>T (p.Glu3856Ter)
c.5536G>T (p.Glu1846Ter)
c.2821G>T (p.Glu941Ter)
c.65G>T
c.5509G>T (p.Glu1837Ter)
c.1585G>T (p.Glu529Ter)
c.23G>T
c.2633G>T
c.*3152G>T (n.*3152G>T)
c.11917G>T (p.Glu3973Ter)
c.5533G>T (p.Glu1845Ter)
c.11971G>T (p.Glu3991Ter)
c.11935G>T (p.Glu3979Ter)
c.5683G>T (p.Glu1895Ter)
c.5623G>T (p.Glu1875Ter)
c.5647G>T (p.Glu1883Ter)
c.11911G>T (p.Glu3971Ter)
c.11956G>T (p.Glu3986Ter)
c.5548G>T (p.Glu1850Ter)
c.5515G>T (p.Glu1839Ter)
c.5671G>T (p.Glu1891Ter)
c.5626G>T (p.Glu1876Ter)
c.5434G>T (p.Glu1812Ter)
c.5614G>T (p.Glu1872Ter)
c.5599G>T (p.Glu1867Ter)
c.5578G>T (p.Glu1860Ter)
c.5563G>T (p.Glu1855Ter)
c.5506G>T (p.Glu1836Ter)
c.5485G>T (p.Glu1829Ter)
c.5470G>T (p.Glu1824Ter)
c.5395G>T (p.Glu1799Ter)
c.5436+208G>T (n.5436+208G>T)
c.5323G>T (p.Glu1775Ter)
c.5310+208G>T (n.5310+208G>T)
c.5236G>T (p.Glu1746Ter)
c.12001G>T (p.Glu4001Ter)
c.11887G>T (p.Glu3963Ter)
c.11884G>T (p.Glu3962Ter)
c.11857G>T (p.Glu3953Ter)
c.11821G>T (p.Glu3941Ter)
c.11698G>T (p.Glu3900Ter)
c.11920G>T (p.Glu3974Ter)
c.11557G>T (p.Glu3853Ter)
c.5674G>T (p.Glu1892Ter)
c.5362G>T (p.Glu1788Ter)
c.5521G>T (p.Glu1841Ter)
c.5317G>T (p.Glu1773Ter)
c.5344G>T (p.Glu1782Ter)
c.5412+3576G>T (n.5412+3576G>T)
c.5302G>T (p.Glu1768Ter)
c.5152G>T (p.Glu1718Ter)
c.5053G>T (p.Glu1685Ter)
c.5380G>T (p.Glu1794Ter)
c.8191G>T (p.Glu2731Ter)
c.2029G>T (p.Glu677Ter)
c.5401G>T (p.Glu1801Ter)
 ClinVar dbSNP
4g.113373381G>ACA145040ANK2c.12025G>A (p.Glu4009Lys)
c.5617G>A (p.Glu1873Lys)
c.2037+3576G>A (n.2037+3576G>A)
c.2716G>A (p.Glu906Lys)
n.3173G>A
n.2381G>A
n.6409G>A
n.1954G>A
n.2594G>A
n.3735+3576G>A
n.1897G>A
n.2290G>A
n.8636G>A
n.3262G>A
n.3472+208G>A
n.4530G>A
n.3773G>A
n.5179G>A
c.11791G>A (p.Glu3931Lys)
c.11629G>A (p.Glu3877Lys)
c.2923G>A (p.Glu975Lys)
c.1339G>A (p.Glu447Lys)
c.5350G>A (p.Glu1784Lys)
c.5530G>A (p.Glu1844Lys)
c.5277+208G>A (n.5277+208G>A)
c.5665G>A (p.Glu1889Lys)
c.5566G>A (p.Glu1856Lys)
c.11665G>A (p.Glu3889Lys)
c.5473G>A (p.Glu1825Lys)
c.5275G>A (p.Glu1759Lys)
c.*1029G>A (n.*1029G>A)
c.11428-1383G>A (n.11428-1383G>A)
c.5055+208G>A (n.5055+208G>A)
c.11605G>A (p.Glu3869Lys)
c.5251G>A (p.Glu1751Lys)
c.11836G>A (p.Glu3946Lys)
c.5374G>A (p.Glu1792Lys)
c.11722G>A (p.Glu3908Lys)
c.5386G>A (p.Glu1796Lys)
c.5371G>A (p.Glu1791Lys)
c.11872G>A (p.Glu3958Lys)
c.5262+208G>A (n.5262+208G>A)
c.11593G>A (p.Glu3865Lys)
c.5292+3576G>A (n.5292+3576G>A)
c.5311G>A (p.Glu1771Lys)
c.5602G>A (p.Glu1868Lys)
c.5437G>A (p.Glu1813Lys)
c.3003+208G>A (n.3003+208G>A)
c.11692G>A (p.Glu3898Lys)
c.5469+208G>A (n.5469+208G>A)
c.5253+208G>A (n.5253+208G>A)
c.5581G>A (p.Glu1861Lys)
c.5467G>A (p.Glu1823Lys)
c.11728G>A (p.Glu3910Lys)
c.5338G>A (p.Glu1780Lys)
c.11532+208G>A (n.11532+208G>A)
c.11530G>A (p.Glu3844Lys)
c.5410G>A (p.Glu1804Lys)
c.4954G>A (p.Glu1652Lys)
c.3085G>A (p.Glu1029Lys)
c.11506G>A (p.Glu3836Lys)
c.3100G>A (p.Glu1034Lys)
c.11448+3576G>A (n.11448+3576G>A)
c.3064G>A (p.Glu1022Lys)
c.11737G>A (p.Glu3913Lys)
c.5298+208G>A (n.5298+208G>A)
c.5044G>A (p.Glu1682Lys)
c.11625+208G>A (n.11625+208G>A)
c.11566G>A (p.Glu3856Lys)
c.5536G>A (p.Glu1846Lys)
c.2821G>A (p.Glu941Lys)
c.65G>A
c.5509G>A (p.Glu1837Lys)
c.1585G>A (p.Glu529Lys)
c.23G>A
c.2633G>A
c.*3152G>A (n.*3152G>A)
c.11917G>A (p.Glu3973Lys)
c.5533G>A (p.Glu1845Lys)
c.11971G>A (p.Glu3991Lys)
c.11935G>A (p.Glu3979Lys)
c.5683G>A (p.Glu1895Lys)
c.5623G>A (p.Glu1875Lys)
c.5647G>A (p.Glu1883Lys)
c.11911G>A (p.Glu3971Lys)
c.11956G>A (p.Glu3986Lys)
c.5548G>A (p.Glu1850Lys)
c.5515G>A (p.Glu1839Lys)
c.5671G>A (p.Glu1891Lys)
c.5626G>A (p.Glu1876Lys)
c.5434G>A (p.Glu1812Lys)
c.5614G>A (p.Glu1872Lys)
c.5599G>A (p.Glu1867Lys)
c.5578G>A (p.Glu1860Lys)
c.5563G>A (p.Glu1855Lys)
c.5506G>A (p.Glu1836Lys)
c.5485G>A (p.Glu1829Lys)
c.5470G>A (p.Glu1824Lys)
c.5395G>A (p.Glu1799Lys)
c.5436+208G>A (n.5436+208G>A)
c.5323G>A (p.Glu1775Lys)
c.5310+208G>A (n.5310+208G>A)
c.5236G>A (p.Glu1746Lys)
c.12001G>A (p.Glu4001Lys)
c.11887G>A (p.Glu3963Lys)
c.11884G>A (p.Glu3962Lys)
c.11857G>A (p.Glu3953Lys)
c.11821G>A (p.Glu3941Lys)
c.11698G>A (p.Glu3900Lys)
c.11920G>A (p.Glu3974Lys)
c.11557G>A (p.Glu3853Lys)
c.5674G>A (p.Glu1892Lys)
c.5362G>A (p.Glu1788Lys)
c.5521G>A (p.Glu1841Lys)
c.5317G>A (p.Glu1773Lys)
c.5344G>A (p.Glu1782Lys)
c.5412+3576G>A (n.5412+3576G>A)
c.5302G>A (p.Glu1768Lys)
c.5152G>A (p.Glu1718Lys)
c.5053G>A (p.Glu1685Lys)
c.5380G>A (p.Glu1794Lys)
c.8191G>A (p.Glu2731Lys)
c.2029G>A (p.Glu677Lys)
c.5401G>A (p.Glu1801Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.113373381G>CCA357943725ANK2c.12025G>C (p.Glu4009Gln)
c.5617G>C (p.Glu1873Gln)
c.2037+3576G>C (n.2037+3576G>C)
c.2716G>C (p.Glu906Gln)
n.3173G>C
n.2381G>C
n.6409G>C
n.1954G>C
n.2594G>C
n.3735+3576G>C
n.1897G>C
n.2290G>C
n.8636G>C
n.3262G>C
n.3472+208G>C
n.4530G>C
n.3773G>C
n.5179G>C
c.11791G>C (p.Glu3931Gln)
c.11629G>C (p.Glu3877Gln)
c.2923G>C (p.Glu975Gln)
c.1339G>C (p.Glu447Gln)
c.5350G>C (p.Glu1784Gln)
c.5530G>C (p.Glu1844Gln)
c.5277+208G>C (n.5277+208G>C)
c.5665G>C (p.Glu1889Gln)
c.5566G>C (p.Glu1856Gln)
c.11665G>C (p.Glu3889Gln)
c.5473G>C (p.Glu1825Gln)
c.5275G>C (p.Glu1759Gln)
c.*1029G>C (n.*1029G>C)
c.11428-1383G>C (n.11428-1383G>C)
c.5055+208G>C (n.5055+208G>C)
c.11605G>C (p.Glu3869Gln)
c.5251G>C (p.Glu1751Gln)
c.11836G>C (p.Glu3946Gln)
c.5374G>C (p.Glu1792Gln)
c.11722G>C (p.Glu3908Gln)
c.5386G>C (p.Glu1796Gln)
c.5371G>C (p.Glu1791Gln)
c.11872G>C (p.Glu3958Gln)
c.5262+208G>C (n.5262+208G>C)
c.11593G>C (p.Glu3865Gln)
c.5292+3576G>C (n.5292+3576G>C)
c.5311G>C (p.Glu1771Gln)
c.5602G>C (p.Glu1868Gln)
c.5437G>C (p.Glu1813Gln)
c.3003+208G>C (n.3003+208G>C)
c.11692G>C (p.Glu3898Gln)
c.5469+208G>C (n.5469+208G>C)
c.5253+208G>C (n.5253+208G>C)
c.5581G>C (p.Glu1861Gln)
c.5467G>C (p.Glu1823Gln)
c.11728G>C (p.Glu3910Gln)
c.5338G>C (p.Glu1780Gln)
c.11532+208G>C (n.11532+208G>C)
c.11530G>C (p.Glu3844Gln)
c.5410G>C (p.Glu1804Gln)
c.4954G>C (p.Glu1652Gln)
c.3085G>C (p.Glu1029Gln)
c.11506G>C (p.Glu3836Gln)
c.3100G>C (p.Glu1034Gln)
c.11448+3576G>C (n.11448+3576G>C)
c.3064G>C (p.Glu1022Gln)
c.11737G>C (p.Glu3913Gln)
c.5298+208G>C (n.5298+208G>C)
c.5044G>C (p.Glu1682Gln)
c.11625+208G>C (n.11625+208G>C)
c.11566G>C (p.Glu3856Gln)
c.5536G>C (p.Glu1846Gln)
c.2821G>C (p.Glu941Gln)
c.65G>C
c.5509G>C (p.Glu1837Gln)
c.1585G>C (p.Glu529Gln)
c.23G>C
c.2633G>C
c.*3152G>C (n.*3152G>C)
c.11917G>C (p.Glu3973Gln)
c.5533G>C (p.Glu1845Gln)
c.11971G>C (p.Glu3991Gln)
c.11935G>C (p.Glu3979Gln)
c.5683G>C (p.Glu1895Gln)
c.5623G>C (p.Glu1875Gln)
c.5647G>C (p.Glu1883Gln)
c.11911G>C (p.Glu3971Gln)
c.11956G>C (p.Glu3986Gln)
c.5548G>C (p.Glu1850Gln)
c.5515G>C (p.Glu1839Gln)
c.5671G>C (p.Glu1891Gln)
c.5626G>C (p.Glu1876Gln)
c.5434G>C (p.Glu1812Gln)
c.5614G>C (p.Glu1872Gln)
c.5599G>C (p.Glu1867Gln)
c.5578G>C (p.Glu1860Gln)
c.5563G>C (p.Glu1855Gln)
c.5506G>C (p.Glu1836Gln)
c.5485G>C (p.Glu1829Gln)
c.5470G>C (p.Glu1824Gln)
c.5395G>C (p.Glu1799Gln)
c.5436+208G>C (n.5436+208G>C)
c.5323G>C (p.Glu1775Gln)
c.5310+208G>C (n.5310+208G>C)
c.5236G>C (p.Glu1746Gln)
c.12001G>C (p.Glu4001Gln)
c.11887G>C (p.Glu3963Gln)
c.11884G>C (p.Glu3962Gln)
c.11857G>C (p.Glu3953Gln)
c.11821G>C (p.Glu3941Gln)
c.11698G>C (p.Glu3900Gln)
c.11920G>C (p.Glu3974Gln)
c.11557G>C (p.Glu3853Gln)
c.5674G>C (p.Glu1892Gln)
c.5362G>C (p.Glu1788Gln)
c.5521G>C (p.Glu1841Gln)
c.5317G>C (p.Glu1773Gln)
c.5344G>C (p.Glu1782Gln)
c.5412+3576G>C (n.5412+3576G>C)
c.5302G>C (p.Glu1768Gln)
c.5152G>C (p.Glu1718Gln)
c.5053G>C (p.Glu1685Gln)
c.5380G>C (p.Glu1794Gln)
c.8191G>C (p.Glu2731Gln)
c.2029G>C (p.Glu677Gln)
c.5401G>C (p.Glu1801Gln)
 dbSNP

Number of alleles fetched