Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.214953906T>ACA350446071ABCA12,SNHG31c.6595A>T (p.Met2199Leu)
c.5641A>T (p.Met1881Leu)
n.6895A>T
n.444+5959T>A
c.6604A>T (p.Met2202Leu)
n.7093A>T
2g.214953906T>CCA350446072ABCA12,SNHG31c.6595A>G (p.Met2199Val)
c.5641A>G (p.Met1881Val)
n.6895A>G
n.444+5959T>C
c.6604A>G (p.Met2202Val)
n.7093A>G
2g.214953906T>GCA350446073ABCA12,SNHG31c.6595A>C (p.Met2199Leu)
c.5641A>C (p.Met1881Leu)
n.6895A>C
n.444+5959T>G
c.6604A>C (p.Met2202Leu)
n.7093A>C
2g.214953907G>ACA431388004ABCA12,SNHG31c.6594C>T (p.Thr2198=)
c.5640C>T (p.Thr1880=)
n.6894C>T
n.444+5960G>A
c.6603C>T (p.Thr2201=)
n.7092C>T
2g.214953907G>CCA431388005ABCA12,SNHG31c.6594C>G (p.Thr2198=)
c.5640C>G (p.Thr1880=)
n.6894C>G
n.444+5960G>C
c.6603C>G (p.Thr2201=)
n.7092C>G
2g.214953907G>TCA431388006ABCA12,SNHG31c.6594C>A (p.Thr2198=)
c.5640C>A (p.Thr1880=)
n.6894C>A
n.444+5960G>T
c.6603C>A (p.Thr2201=)
n.7092C>A
2g.214953908G>ACA64797529ABCA12,SNHG31c.6593C>T (p.Thr2198Ile)
c.5639C>T (p.Thr1880Ile)
n.6893C>T
n.444+5961G>A
c.6602C>T (p.Thr2201Ile)
n.7091C>T
 dbSNP gnomAD v3 gnomAD v4
2g.214953908G>CCA2090876ABCA12,SNHG31c.6593C>G (p.Thr2198Ser)
c.5639C>G (p.Thr1880Ser)
n.6893C>G
n.444+5961G>C
c.6602C>G (p.Thr2201Ser)
n.7091C>G
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.214953908G=CA1327150069ABCA12,SNHG31c.6593C= (p.Thr2198=)
c.5639C= (p.Thr1880=)
n.6893C=
n.444+5961G=
c.6602C= (p.Thr2201=)
n.7091C=
2g.214953908G>TCA350446074ABCA12,SNHG31c.6593C>A (p.Thr2198Asn)
c.5639C>A (p.Thr1880Asn)
n.6893C>A
n.444+5961G>T
c.6602C>A (p.Thr2201Asn)
n.7091C>A
2g.214953909T>ACA350446075ABCA12,SNHG31c.6592A>T (p.Thr2198Ser)
c.5638A>T (p.Thr1880Ser)
n.6892A>T
n.444+5962T>A
c.6601A>T (p.Thr2201Ser)
n.7090A>T
2g.214953909T>CCA350446076ABCA12,SNHG31c.6592A>G (p.Thr2198Ala)
c.5638A>G (p.Thr1880Ala)
n.6892A>G
n.444+5962T>C
c.6601A>G (p.Thr2201Ala)
n.7090A>G
2g.214953909T>GCA350446077ABCA12,SNHG31c.6592A>C (p.Thr2198Pro)
c.5638A>C (p.Thr1880Pro)
n.6892A>C
n.444+5962T>G
c.6601A>C (p.Thr2201Pro)
n.7090A>C
2g.214953910G>ACA431388008ABCA12,SNHG31c.6591C>T (p.Gly2197=)
c.5637C>T (p.Gly1879=)
n.6891C>T
n.444+5963G>A
c.6600C>T (p.Gly2200=)
n.7089C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214953910G>CCA431388009ABCA12,SNHG31c.6591C>G (p.Gly2197=)
c.5637C>G (p.Gly1879=)
n.6891C>G
n.444+5963G>C
c.6600C>G (p.Gly2200=)
n.7089C>G
2g.214953910G=CA1327150070ABCA12,SNHG31c.6591C= (p.Gly2197=)
c.5637C= (p.Gly1879=)
n.6891C=
n.444+5963G=
c.6600C= (p.Gly2200=)
n.7089C=
2g.214953910G>TCA431388011ABCA12,SNHG31c.6591C>A (p.Gly2197=)
c.5637C>A (p.Gly1879=)
n.6891C>A
n.444+5963G>T
c.6600C>A (p.Gly2200=)
n.7089C>A
2g.214953911C>ACA350446078ABCA12,SNHG31c.6590G>T (p.Gly2197Val)
c.5636G>T (p.Gly1879Val)
n.6890G>T
n.444+5964C>A
c.6599G>T (p.Gly2200Val)
n.7088G>T
2g.214953911C=CA1327150071ABCA12,SNHG31c.6590G= (p.Gly2197=)
c.5636G= (p.Gly1879=)
n.6890G=
n.444+5964C=
c.6599G= (p.Gly2200=)
n.7088G=
2g.214953911C>GCA350446079ABCA12,SNHG31c.6590G>C (p.Gly2197Ala)
c.5636G>C (p.Gly1879Ala)
n.6890G>C
n.444+5964C>G
c.6599G>C (p.Gly2200Ala)
n.7088G>C
2g.214953911C>TCA350446080ABCA12,SNHG31c.6590G>A (p.Gly2197Asp)
c.5636G>A (p.Gly1879Asp)
n.6890G>A
n.444+5964C>T
c.6599G>A (p.Gly2200Asp)
n.7088G>A
 dbSNP gnomAD v3 gnomAD v4
2g.214953913delCA2662976207ABCA12,SNHG31c.6590del (p.Gly2197AlafsTer10)
c.5636del (p.Gly1879AlafsTer10)
n.6890del
n.444+5966del
c.6599del (p.Gly2200AlafsTer10)
n.7088del
 gnomAD v4
2g.214953912C>ACA350446081ABCA12,SNHG31c.6589G>T (p.Gly2197Cys)
c.5635G>T (p.Gly1879Cys)
n.6889G>T
n.444+5965C>A
c.6598G>T (p.Gly2200Cys)
n.7087G>T
2g.214953912C=CA1327150072ABCA12,SNHG31c.6589G= (p.Gly2197=)
c.5635G= (p.Gly1879=)
n.6889G=
n.444+5965C=
c.6598G= (p.Gly2200=)
n.7087G=
2g.214953912C>GCA350446082ABCA12,SNHG31c.6589G>C (p.Gly2197Arg)
c.5635G>C (p.Gly1879Arg)
n.6889G>C
n.444+5965C>G
c.6598G>C (p.Gly2200Arg)
n.7087G>C
 gnomAD v4
2g.214953912C>TCA350446083ABCA12,SNHG31c.6589G>A (p.Gly2197Ser)
c.5635G>A (p.Gly1879Ser)
n.6889G>A
n.444+5965C>T
c.6598G>A (p.Gly2200Ser)
n.7087G>A
 dbSNP
2g.214953913C>ACA350446084ABCA12,SNHG31c.6588G>T (p.Gln2196His)
c.5634G>T (p.Gln1878His)
n.6888G>T
n.444+5966C>A
c.6597G>T (p.Gln2199His)
n.7086G>T
2g.214953913C=CA1327150073ABCA12,SNHG31c.6588G= (p.Gln2196=)
c.5634G= (p.Gln1878=)
n.6888G=
n.444+5966C=
c.6597G= (p.Gln2199=)
n.7086G=
2g.214953913C>GCA350446085ABCA12,SNHG31c.6588G>C (p.Gln2196His)
c.5634G>C (p.Gln1878His)
n.6888G>C
n.444+5966C>G
c.6597G>C (p.Gln2199His)
n.7086G>C
2g.214953913C>TCA2090877ABCA12,SNHG31c.6588G>A (p.Gln2196=)
c.5634G>A (p.Gln1878=)
n.6888G>A
n.444+5966C>T
c.6597G>A (p.Gln2199=)
n.7086G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214953914T>ACA350446088ABCA12,SNHG31c.6587A>T (p.Gln2196Leu)
c.5633A>T (p.Gln1878Leu)
n.6887A>T
n.444+5967T>A
c.6596A>T (p.Gln2199Leu)
n.7085A>T
2g.214953914T>CCA350446087ABCA12,SNHG31c.6587A>G (p.Gln2196Arg)
c.5633A>G (p.Gln1878Arg)
n.6887A>G
n.444+5967T>C
c.6596A>G (p.Gln2199Arg)
n.7085A>G
2g.214953914T>GCA350446086ABCA12,SNHG31c.6587A>C (p.Gln2196Pro)
c.5633A>C (p.Gln1878Pro)
n.6887A>C
n.444+5967T>G
c.6596A>C (p.Gln2199Pro)
n.7085A>C
2g.214953915G>ACA350446089ABCA12,SNHG31c.6586C>T (p.Gln2196Ter)
c.5632C>T (p.Gln1878Ter)
n.6886C>T
n.444+5968G>A
c.6595C>T (p.Gln2199Ter)
n.7084C>T
2g.214953915G>CCA350446090ABCA12,SNHG31c.6586C>G (p.Gln2196Glu)
c.5632C>G (p.Gln1878Glu)
n.6886C>G
n.444+5968G>C
c.6595C>G (p.Gln2199Glu)
n.7084C>G
2g.214953915G>TCA350446091ABCA12,SNHG31c.6586C>A (p.Gln2196Lys)
c.5632C>A (p.Gln1878Lys)
n.6886C>A
n.444+5968G>T
c.6595C>A (p.Gln2199Lys)
n.7084C>A
2g.214953916A>CCA431388019ABCA12,SNHG31c.6585T>G (p.Ser2195=)
c.5631T>G (p.Ser1877=)
n.6885T>G
n.444+5969A>C
c.6594T>G (p.Ser2198=)
n.7083T>G
2g.214953916A>GCA431388020ABCA12,SNHG31c.6585T>C (p.Ser2195=)
c.5631T>C (p.Ser1877=)
n.6885T>C
n.444+5969A>G
c.6594T>C (p.Ser2198=)
n.7083T>C
2g.214953916A>TCA431388021ABCA12,SNHG31c.6585T>A (p.Ser2195=)
c.5631T>A (p.Ser1877=)
n.6885T>A
n.444+5969A>T
c.6594T>A (p.Ser2198=)
n.7083T>A
2g.214953917G>ACA350446092ABCA12,SNHG31c.6584C>T (p.Ser2195Phe)
c.5630C>T (p.Ser1877Phe)
n.6884C>T
n.444+5970G>A
c.6593C>T (p.Ser2198Phe)
n.7082C>T
 gnomAD v4
2g.214953917G>CCA350446093ABCA12,SNHG31c.6584C>G (p.Ser2195Cys)
c.5630C>G (p.Ser1877Cys)
n.6884C>G
n.444+5970G>C
c.6593C>G (p.Ser2198Cys)
n.7082C>G
2g.214953917G>TCA350446094ABCA12,SNHG31c.6584C>A (p.Ser2195Tyr)
c.5630C>A (p.Ser1877Tyr)
n.6884C>A
n.444+5970G>T
c.6593C>A (p.Ser2198Tyr)
n.7082C>A
 gnomAD v4
2g.214953918A>CCA350446095ABCA12,SNHG31c.6583T>G (p.Ser2195Ala)
c.5629T>G (p.Ser1877Ala)
n.6883T>G
n.444+5971A>C
c.6592T>G (p.Ser2198Ala)
n.7081T>G
2g.214953918A>GCA350446096ABCA12,SNHG31c.6583T>C (p.Ser2195Pro)
c.5629T>C (p.Ser1877Pro)
n.6883T>C
n.444+5971A>G
c.6592T>C (p.Ser2198Pro)
n.7081T>C
2g.214953918A>TCA350446097ABCA12,SNHG31c.6583T>A (p.Ser2195Thr)
c.5629T>A (p.Ser1877Thr)
n.6883T>A
n.444+5971A>T
c.6592T>A (p.Ser2198Thr)
n.7081T>A
2g.214953919A>CCA431388026ABCA12,SNHG31c.6582T>G (p.Val2194=)
c.5628T>G (p.Val1876=)
n.6882T>G
n.444+5972A>C
c.6591T>G (p.Val2197=)
n.7080T>G
2g.214953919A>GCA431388028ABCA12,SNHG31c.6582T>C (p.Val2194=)
c.5628T>C (p.Val1876=)
n.6882T>C
n.444+5972A>G
c.6591T>C (p.Val2197=)
n.7080T>C
2g.214953919A>TCA431388030ABCA12,SNHG31c.6582T>A (p.Val2194=)
c.5628T>A (p.Val1876=)
n.6882T>A
n.444+5972A>T
c.6591T>A (p.Val2197=)
n.7080T>A
2g.214953920A>CCA350446098ABCA12,SNHG31c.6581T>G (p.Val2194Gly)
c.5627T>G (p.Val1876Gly)
n.6881T>G
n.444+5973A>C
c.6590T>G (p.Val2197Gly)
n.7079T>G
2g.214953920A>GCA350446099ABCA12,SNHG31c.6581T>C (p.Val2194Ala)
c.5627T>C (p.Val1876Ala)
n.6881T>C
n.444+5973A>G
c.6590T>C (p.Val2197Ala)
n.7079T>C
 gnomAD v4
2g.214953920A>TCA350446100ABCA12,SNHG31c.6581T>A (p.Val2194Asp)
c.5627T>A (p.Val1876Asp)
n.6881T>A
n.444+5973A>T
c.6590T>A (p.Val2197Asp)
n.7079T>A
2g.214953921C>ACA2090878ABCA12,SNHG31c.6580G>T (p.Val2194Phe)
c.5626G>T (p.Val1876Phe)
n.6880G>T
n.444+5974C>A
c.6589G>T (p.Val2197Phe)
n.7078G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214953921C=CA1327150074ABCA12,SNHG31c.6580G= (p.Val2194=)
c.5626G= (p.Val1876=)
n.6880G=
n.444+5974C=
c.6589G= (p.Val2197=)
n.7078G=
2g.214953921C>GCA350446102ABCA12,SNHG31c.6580G>C (p.Val2194Leu)
c.5626G>C (p.Val1876Leu)
n.6880G>C
n.444+5974C>G
c.6589G>C (p.Val2197Leu)
n.7078G>C
2g.214953921C>TCA350446101ABCA12,SNHG31c.6580G>A (p.Val2194Ile)
c.5626G>A (p.Val1876Ile)
n.6880G>A
n.444+5974C>T
c.6589G>A (p.Val2197Ile)
n.7078G>A
2g.214953922C>ACA350446103ABCA12,SNHG31c.6579G>T (p.Leu2193Phe)
c.5625G>T (p.Leu1875Phe)
n.6879G>T
n.444+5975C>A
c.6588G>T (p.Leu2196Phe)
n.7077G>T
 gnomAD v4
2g.214953922C=CA1327150075ABCA12,SNHG31c.6579G= (p.Leu2193=)
c.5625G= (p.Leu1875=)
n.6879G=
n.444+5975C=
c.6588G= (p.Leu2196=)
n.7077G=
2g.214953922C>GCA350446104ABCA12,SNHG31c.6579G>C (p.Leu2193Phe)
c.5625G>C (p.Leu1875Phe)
n.6879G>C
n.444+5975C>G
c.6588G>C (p.Leu2196Phe)
n.7077G>C
 dbSNP gnomAD v4
2g.214953922C>TCA431388032ABCA12,SNHG31c.6579G>A (p.Leu2193=)
c.5625G>A (p.Leu1875=)
n.6879G>A
n.444+5975C>T
c.6588G>A (p.Leu2196=)
n.7077G>A
2g.214953923A=CA1327150076ABCA12,SNHG31c.6578T= (p.Leu2193=)
c.5624T= (p.Leu1875=)
n.6878T=
n.444+5976A=
c.6587T= (p.Leu2196=)
n.7076T=
2g.214953923A>CCA350446105ABCA12,SNHG31c.6578T>G (p.Leu2193Trp)
c.5624T>G (p.Leu1875Trp)
n.6878T>G
n.444+5976A>C
c.6587T>G (p.Leu2196Trp)
n.7076T>G
2g.214953923A>GCA64797574ABCA12,SNHG31c.6578T>C (p.Leu2193Ser)
c.5624T>C (p.Leu1875Ser)
n.6878T>C
n.444+5976A>G
c.6587T>C (p.Leu2196Ser)
n.7076T>C
 dbSNP gnomAD v3 gnomAD v4
2g.214953923A>TCA350446106ABCA12,SNHG31c.6578T>A (p.Leu2193Ter)
c.5624T>A (p.Leu1875Ter)
n.6878T>A
n.444+5976A>T
c.6587T>A (p.Leu2196Ter)
n.7076T>A
2g.214953924A>CCA350446107ABCA12,SNHG31c.6577T>G (p.Leu2193Val)
c.5623T>G (p.Leu1875Val)
n.6877T>G
n.444+5977A>C
c.6586T>G (p.Leu2196Val)
n.7075T>G
2g.214953924A>GCA431388037ABCA12,SNHG31c.6577T>C (p.Leu2193=)
c.5623T>C (p.Leu1875=)
n.6877T>C
n.444+5977A>G
c.6586T>C (p.Leu2196=)
n.7075T>C
2g.214953924A>TCA350446108ABCA12,SNHG31c.6577T>A (p.Leu2193Met)
c.5623T>A (p.Leu1875Met)
n.6877T>A
n.444+5977A>T
c.6586T>A (p.Leu2196Met)
n.7075T>A
2g.214953925A>CCA431388040ABCA12,SNHG31c.6576T>G (p.Ala2192=)
c.5622T>G (p.Ala1874=)
n.6876T>G
n.444+5978A>C
c.6585T>G (p.Ala2195=)
n.7074T>G
2g.214953925A>GCA431388039ABCA12,SNHG31c.6576T>C (p.Ala2192=)
c.5622T>C (p.Ala1874=)
n.6876T>C
n.444+5978A>G
c.6585T>C (p.Ala2195=)
n.7074T>C
2g.214953925A>TCA431388038ABCA12,SNHG31c.6576T>A (p.Ala2192=)
c.5622T>A (p.Ala1874=)
n.6876T>A
n.444+5978A>T
c.6585T>A (p.Ala2195=)
n.7074T>A
2g.214953926G>ACA350446111ABCA12,SNHG31c.6575C>T (p.Ala2192Val)
c.5621C>T (p.Ala1874Val)
n.6875C>T
n.444+5979G>A
c.6584C>T (p.Ala2195Val)
n.7073C>T
2g.214953926G>CCA350446110ABCA12,SNHG31c.6575C>G (p.Ala2192Gly)
c.5621C>G (p.Ala1874Gly)
n.6875C>G
n.444+5979G>C
c.6584C>G (p.Ala2195Gly)
n.7073C>G
2g.214953926G>TCA350446109ABCA12,SNHG31c.6575C>A (p.Ala2192Asp)
c.5621C>A (p.Ala1874Asp)
n.6875C>A
n.444+5979G>T
c.6584C>A (p.Ala2195Asp)
n.7073C>A
2g.214953927C>ACA350446112ABCA12,SNHG31c.6574G>T (p.Ala2192Ser)
c.5620G>T (p.Ala1874Ser)
n.6874G>T
n.444+5980C>A
c.6583G>T (p.Ala2195Ser)
n.7072G>T
2g.214953927C>GCA350446113ABCA12,SNHG31c.6574G>C (p.Ala2192Pro)
c.5620G>C (p.Ala1874Pro)
n.6874G>C
n.444+5980C>G
c.6583G>C (p.Ala2195Pro)
n.7072G>C
 gnomAD v4
2g.214953927C>TCA350446114ABCA12,SNHG31c.6574G>A (p.Ala2192Thr)
c.5620G>A (p.Ala1874Thr)
n.6874G>A
n.444+5980C>T
c.6583G>A (p.Ala2195Thr)
n.7072G>A
 gnomAD v4
2g.214953928C>ACA431388044ABCA12,SNHG31c.6573G>T (p.Val2191=)
c.5619G>T (p.Val1873=)
n.6873G>T
n.444+5981C>A
c.6582G>T (p.Val2194=)
n.7071G>T
2g.214953928C>GCA431388045ABCA12,SNHG31c.6573G>C (p.Val2191=)
c.5619G>C (p.Val1873=)
n.6873G>C
n.444+5981C>G
c.6582G>C (p.Val2194=)
n.7071G>C
2g.214953928C>TCA431388046ABCA12,SNHG31c.6573G>A (p.Val2191=)
c.5619G>A (p.Val1873=)
n.6873G>A
n.444+5981C>T
c.6582G>A (p.Val2194=)
n.7071G>A
2g.214953929A>CCA350446115ABCA12,SNHG31c.6572T>G (p.Val2191Gly)
c.5618T>G (p.Val1873Gly)
n.6872T>G
n.444+5982A>C
c.6581T>G (p.Val2194Gly)
n.7070T>G
2g.214953929A>GCA350446116ABCA12,SNHG31c.6572T>C (p.Val2191Ala)
c.5618T>C (p.Val1873Ala)
n.6872T>C
n.444+5982A>G
c.6581T>C (p.Val2194Ala)
n.7070T>C
 gnomAD v4
2g.214953929A>TCA350446117ABCA12,SNHG31c.6572T>A (p.Val2191Glu)
c.5618T>A (p.Val1873Glu)
n.6872T>A
n.444+5982A>T
c.6581T>A (p.Val2194Glu)
n.7070T>A
2g.214953930C>ACA350446118ABCA12,SNHG31c.6571G>T (p.Val2191Leu)
c.5617G>T (p.Val1873Leu)
n.6871G>T
n.444+5983C>A
c.6580G>T (p.Val2194Leu)
n.7069G>T
2g.214953930C>GCA350446120ABCA12,SNHG31c.6571G>C (p.Val2191Leu)
c.5617G>C (p.Val1873Leu)
n.6871G>C
n.444+5983C>G
c.6580G>C (p.Val2194Leu)
n.7069G>C
2g.214953930C>TCA350446119ABCA12,SNHG31c.6571G>A (p.Val2191Met)
c.5617G>A (p.Val1873Met)
n.6871G>A
n.444+5983C>T
c.6580G>A (p.Val2194Met)
n.7069G>A
2g.214953931A>CCA350446121ABCA12,SNHG31c.6570T>G (p.Phe2190Leu)
c.5616T>G (p.Phe1872Leu)
n.6870T>G
n.444+5984A>C
c.6579T>G (p.Phe2193Leu)
n.7068T>G
2g.214953931A>GCA431388050ABCA12,SNHG31c.6570T>C (p.Phe2190=)
c.5616T>C (p.Phe1872=)
n.6870T>C
n.444+5984A>G
c.6579T>C (p.Phe2193=)
n.7068T>C
2g.214953931A>TCA350446122ABCA12,SNHG31c.6570T>A (p.Phe2190Leu)
c.5616T>A (p.Phe1872Leu)
n.6870T>A
n.444+5984A>T
c.6579T>A (p.Phe2193Leu)
n.7068T>A
2g.214953932A>CCA350446123ABCA12,SNHG31c.6569T>G (p.Phe2190Cys)
c.5615T>G (p.Phe1872Cys)
n.6869T>G
n.444+5985A>C
c.6578T>G (p.Phe2193Cys)
n.7067T>G
2g.214953932A>GCA350446124ABCA12,SNHG31c.6569T>C (p.Phe2190Ser)
c.5615T>C (p.Phe1872Ser)
n.6869T>C
n.444+5985A>G
c.6578T>C (p.Phe2193Ser)
n.7067T>C
2g.214953932A>TCA350446125ABCA12,SNHG31c.6569T>A (p.Phe2190Tyr)
c.5615T>A (p.Phe1872Tyr)
n.6869T>A
n.444+5985A>T
c.6578T>A (p.Phe2193Tyr)
n.7067T>A
2g.214953933A=CA1327150077ABCA12,SNHG31c.6568T= (p.Phe2190=)
c.5614T= (p.Phe1872=)
n.6868T=
n.444+5986A=
c.6577T= (p.Phe2193=)
n.7066T=
2g.214953933A>CCA350446126ABCA12,SNHG31c.6568T>G (p.Phe2190Val)
c.5614T>G (p.Phe1872Val)
n.6868T>G
n.444+5986A>C
c.6577T>G (p.Phe2193Val)
n.7066T>G
2g.214953933A>GCA350446127ABCA12,SNHG31c.6568T>C (p.Phe2190Leu)
c.5614T>C (p.Phe1872Leu)
n.6868T>C
n.444+5986A>G
c.6577T>C (p.Phe2193Leu)
n.7066T>C
 dbSNP
2g.214953933A>TCA350446128ABCA12,SNHG31c.6568T>A (p.Phe2190Ile)
c.5614T>A (p.Phe1872Ile)
n.6868T>A
n.444+5986A>T
c.6577T>A (p.Phe2193Ile)
n.7066T>A
2g.214953934delCA2662976208ABCA12,SNHG31c.6567del (p.Met2189IlefsTer18)
c.5613del (p.Met1871IlefsTer18)
n.6867del
n.444+5987del
c.6576del (p.Met2192IlefsTer18)
n.7065del
 gnomAD v4
2g.214953934C>ACA2090879ABCA12,SNHG31c.6567G>T (p.Met2189Ile)
c.5613G>T (p.Met1871Ile)
n.6867G>T
n.444+5987C>A
c.6576G>T (p.Met2192Ile)
n.7065G>T
 dbSNP ExAC
2g.214953934C=CA1327150078ABCA12,SNHG31c.6567G= (p.Met2189=)
c.5613G= (p.Met1871=)
n.6867G=
n.444+5987C=
c.6576G= (p.Met2192=)
n.7065G=
2g.214953934C>GCA350446129ABCA12,SNHG31c.6567G>C (p.Met2189Ile)
c.5613G>C (p.Met1871Ile)
n.6867G>C
n.444+5987C>G
c.6576G>C (p.Met2192Ile)
n.7065G>C
 gnomAD v4
2g.214953934C>TCA350446130ABCA12,SNHG31c.6567G>A (p.Met2189Ile)
c.5613G>A (p.Met1871Ile)
n.6867G>A
n.444+5987C>T
c.6576G>A (p.Met2192Ile)
n.7065G>A
 dbSNP gnomAD v4 COSMIC COSMIC
2g.214953935A=CA1327150079ABCA12,SNHG31c.6566T= (p.Met2189=)
c.5612T= (p.Met1871=)
n.6866T=
n.444+5988A=
c.6575T= (p.Met2192=)
n.7064T=
2g.214953935A>CCA350446131ABCA12,SNHG31c.6566T>G (p.Met2189Arg)
c.5612T>G (p.Met1871Arg)
n.6866T>G
n.444+5988A>C
c.6575T>G (p.Met2192Arg)
n.7064T>G
2g.214953935A>GCA64797576ABCA12,SNHG31c.6566T>C (p.Met2189Thr)
c.5612T>C (p.Met1871Thr)
n.6866T>C
n.444+5988A>G
c.6575T>C (p.Met2192Thr)
n.7064T>C
 dbSNP gnomAD v4
2g.214953935A>TCA350446132ABCA12,SNHG31c.6566T>A (p.Met2189Lys)
c.5612T>A (p.Met1871Lys)
n.6866T>A
n.444+5988A>T
c.6575T>A (p.Met2192Lys)
n.7064T>A
2g.214953936T>ACA350446133ABCA12,SNHG31c.6565A>T (p.Met2189Leu)
c.5611A>T (p.Met1871Leu)
n.6865A>T
n.444+5989T>A
c.6574A>T (p.Met2192Leu)
n.7063A>T
2g.214953936T>CCA350446134ABCA12,SNHG31c.6565A>G (p.Met2189Val)
c.5611A>G (p.Met1871Val)
n.6865A>G
n.444+5989T>C
c.6574A>G (p.Met2192Val)
n.7063A>G
 gnomAD v4 COSMIC COSMIC
2g.214953936T>GCA350446135ABCA12,SNHG31c.6565A>C (p.Met2189Leu)
c.5611A>C (p.Met1871Leu)
n.6865A>C
n.444+5989T>G
c.6574A>C (p.Met2192Leu)
n.7063A>C
2g.214953937T>ACA431388058ABCA12,SNHG31c.6564A>T (p.Ala2188=)
c.5610A>T (p.Ala1870=)
n.6864A>T
n.444+5990T>A
c.6573A>T (p.Ala2191=)
n.7062A>T
2g.214953937T>CCA431388059ABCA12,SNHG31c.6564A>G (p.Ala2188=)
c.5610A>G (p.Ala1870=)
n.6864A>G
n.444+5990T>C
c.6573A>G (p.Ala2191=)
n.7062A>G
 gnomAD v4
2g.214953937T>GCA2090880ABCA12,SNHG31c.6564A>C (p.Ala2188=)
c.5610A>C (p.Ala1870=)
n.6864A>C
n.444+5990T>G
c.6573A>C (p.Ala2191=)
n.7062A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214953937T=CA1327150080ABCA12,SNHG31c.6564A= (p.Ala2188=)
c.5610A= (p.Ala1870=)
n.6864A=
n.444+5990T=
c.6573A= (p.Ala2191=)
n.7062A=
2g.214953938G>ACA350446136ABCA12,SNHG31c.6563C>T (p.Ala2188Val)
c.5609C>T (p.Ala1870Val)
n.6863C>T
n.444+5991G>A
c.6572C>T (p.Ala2191Val)
n.7061C>T
2g.214953938G>CCA350446137ABCA12,SNHG31c.6563C>G (p.Ala2188Gly)
c.5609C>G (p.Ala1870Gly)
n.6863C>G
n.444+5991G>C
c.6572C>G (p.Ala2191Gly)
n.7061C>G
2g.214953938G=CA1327150081ABCA12,SNHG31c.6563C= (p.Ala2188=)
c.5609C= (p.Ala1870=)
n.6863C=
n.444+5991G=
c.6572C= (p.Ala2191=)
n.7061C=
2g.214953938G>TCA350446138ABCA12,SNHG31c.6563C>A (p.Ala2188Glu)
c.5609C>A (p.Ala1870Glu)
n.6863C>A
n.444+5991G>T
c.6572C>A (p.Ala2191Glu)
n.7061C>A
 dbSNP gnomAD v4
2g.214953939C>ACA350446139ABCA12,SNHG31c.6562G>T (p.Ala2188Ser)
c.5608G>T (p.Ala1870Ser)
n.6862G>T
n.444+5992C>A
c.6571G>T (p.Ala2191Ser)
n.7060G>T
2g.214953939C>GCA350446140ABCA12,SNHG31c.6562G>C (p.Ala2188Pro)
c.5608G>C (p.Ala1870Pro)
n.6862G>C
n.444+5992C>G
c.6571G>C (p.Ala2191Pro)
n.7060G>C
2g.214953939C>TCA350446141ABCA12,SNHG31c.6562G>A (p.Ala2188Thr)
c.5608G>A (p.Ala1870Thr)
n.6862G>A
n.444+5992C>T
c.6571G>A (p.Ala2191Thr)
n.7060G>A
2g.214953940A>CCA431388061ABCA12,SNHG31c.6561T>G (p.Gly2187=)
c.5607T>G (p.Gly1869=)
n.6861T>G
n.444+5993A>C
c.6570T>G (p.Gly2190=)
n.7059T>G
2g.214953940A>GCA431388063ABCA12,SNHG31c.6561T>C (p.Gly2187=)
c.5607T>C (p.Gly1869=)
n.6861T>C
n.444+5993A>G
c.6570T>C (p.Gly2190=)
n.7059T>C
2g.214953940A>TCA431388064ABCA12,SNHG31c.6561T>A (p.Gly2187=)
c.5607T>A (p.Gly1869=)
n.6861T>A
n.444+5993A>T
c.6570T>A (p.Gly2190=)
n.7059T>A
2g.214953941C>ACA350446142ABCA12,SNHG31c.6560G>T (p.Gly2187Val)
c.5606G>T (p.Gly1869Val)
n.6860G>T
n.444+5994C>A
c.6569G>T (p.Gly2190Val)
n.7058G>T
2g.214953941C>GCA350446143ABCA12,SNHG31c.6560G>C (p.Gly2187Ala)
c.5606G>C (p.Gly1869Ala)
n.6860G>C
n.444+5994C>G
c.6569G>C (p.Gly2190Ala)
n.7058G>C
2g.214953941C>TCA350446144ABCA12,SNHG31c.6560G>A (p.Gly2187Asp)
c.5606G>A (p.Gly1869Asp)
n.6860G>A
n.444+5994C>T
c.6569G>A (p.Gly2190Asp)
n.7058G>A
 COSMIC COSMIC
2g.214953942C>ACA350446145ABCA12,SNHG31c.6559G>T (p.Gly2187Cys)
c.5605G>T (p.Gly1869Cys)
n.6859G>T
n.444+5995C>A
c.6568G>T (p.Gly2190Cys)
n.7057G>T
2g.214953942C=CA1327150082ABCA12,SNHG31c.6559G= (p.Gly2187=)
c.5605G= (p.Gly1869=)
n.6859G=
n.444+5995C=
c.6568G= (p.Gly2190=)
n.7057G=
2g.214953942C>GCA350446147ABCA12,SNHG31c.6559G>C (p.Gly2187Arg)
c.5605G>C (p.Gly1869Arg)
n.6859G>C
n.444+5995C>G
c.6568G>C (p.Gly2190Arg)
n.7057G>C
2g.214953942C>TCA350446146ABCA12,SNHG31c.6559G>A (p.Gly2187Ser)
c.5605G>A (p.Gly1869Ser)
n.6859G>A
n.444+5995C>T
c.6568G>A (p.Gly2190Ser)
n.7057G>A
 dbSNP COSMIC COSMIC
2g.214953943T>ACA431388070ABCA12,SNHG31c.6558A>T (p.Leu2186=)
c.5604A>T (p.Leu1868=)
n.6858A>T
n.444+5996T>A
c.6567A>T (p.Leu2189=)
n.7056A>T
2g.214953943T>CCA431388075ABCA12,SNHG31c.6558A>G (p.Leu2186=)
c.5604A>G (p.Leu1868=)
n.6858A>G
n.444+5996T>C
c.6567A>G (p.Leu2189=)
n.7056A>G
2g.214953943T>GCA431388076ABCA12,SNHG31c.6558A>C (p.Leu2186=)
c.5604A>C (p.Leu1868=)
n.6858A>C
n.444+5996T>G
c.6567A>C (p.Leu2189=)
n.7056A>C
2g.214953944A>CCA350446148ABCA12,SNHG31c.6557T>G (p.Leu2186Arg)
c.5603T>G (p.Leu1868Arg)
n.6857T>G
n.444+5997A>C
c.6566T>G (p.Leu2189Arg)
n.7055T>G
2g.214953944A>GCA350446149ABCA12,SNHG31c.6557T>C (p.Leu2186Pro)
c.5603T>C (p.Leu1868Pro)
n.6857T>C
n.444+5997A>G
c.6566T>C (p.Leu2189Pro)
n.7055T>C
2g.214953944A>TCA350446150ABCA12,SNHG31c.6557T>A (p.Leu2186Gln)
c.5603T>A (p.Leu1868Gln)
n.6857T>A
n.444+5997A>T
c.6566T>A (p.Leu2189Gln)
n.7055T>A
2g.214953945G>ACA431388077ABCA12,SNHG31c.6556C>T (p.Leu2186=)
c.5602C>T (p.Leu1868=)
n.6856C>T
n.444+5998G>A
c.6565C>T (p.Leu2189=)
n.7054C>T
2g.214953945G>CCA350446151ABCA12,SNHG31c.6556C>G (p.Leu2186Val)
c.5602C>G (p.Leu1868Val)
n.6856C>G
n.444+5998G>C
c.6565C>G (p.Leu2189Val)
n.7054C>G
2g.214953945G>TCA350446152ABCA12,SNHG31c.6556C>A (p.Leu2186Ile)
c.5602C>A (p.Leu1868Ile)
n.6856C>A
n.444+5998G>T
c.6565C>A (p.Leu2189Ile)
n.7054C>A
2g.214953946T>ACA350446153ABCA12,SNHG31c.6555A>T (p.Lys2185Asn)
c.5601A>T (p.Lys1867Asn)
n.6855A>T
n.444+5999T>A
c.6564A>T (p.Lys2188Asn)
n.7053A>T
2g.214953946T>CCA431388079ABCA12,SNHG31c.6555A>G (p.Lys2185=)
c.5601A>G (p.Lys1867=)
n.6855A>G
n.444+5999T>C
c.6564A>G (p.Lys2188=)
n.7053A>G
2g.214953946T>GCA350446154ABCA12,SNHG31c.6555A>C (p.Lys2185Asn)
c.5601A>C (p.Lys1867Asn)
n.6855A>C
n.444+5999T>G
c.6564A>C (p.Lys2188Asn)
n.7053A>C
2g.214953947T>ACA350446155ABCA12,SNHG31c.6554A>T (p.Lys2185Ile)
c.5600A>T (p.Lys1867Ile)
n.6854A>T
n.444+6000T>A
c.6563A>T (p.Lys2188Ile)
n.7052A>T
2g.214953947T>CCA350446156ABCA12,SNHG31c.6554A>G (p.Lys2185Arg)
c.5600A>G (p.Lys1867Arg)
n.6854A>G
n.444+6000T>C
c.6563A>G (p.Lys2188Arg)
n.7052A>G
2g.214953947T>GCA350446157ABCA12,SNHG31c.6554A>C (p.Lys2185Thr)
c.5600A>C (p.Lys1867Thr)
n.6854A>C
n.444+6000T>G
c.6563A>C (p.Lys2188Thr)
n.7052A>C
2g.214953948T>ACA350446159ABCA12,SNHG31c.6553A>T (p.Lys2185Ter)
c.5599A>T (p.Lys1867Ter)
n.6853A>T
n.444+6001T>A
c.6562A>T (p.Lys2188Ter)
n.7051A>T
2g.214953948T>CCA350446160ABCA12,SNHG31c.6553A>G (p.Lys2185Glu)
c.5599A>G (p.Lys1867Glu)
n.6853A>G
n.444+6001T>C
c.6562A>G (p.Lys2188Glu)
n.7051A>G
 gnomAD v4
2g.214953948T>GCA350446158ABCA12,SNHG31c.6553A>C (p.Lys2185Gln)
c.5599A>C (p.Lys1867Gln)
n.6853A>C
n.444+6001T>G
c.6562A>C (p.Lys2188Gln)
n.7051A>C
2g.214953949A>CCA350446162ABCA12,SNHG31c.6552T>G (p.Asn2184Lys)
c.5598T>G (p.Asn1866Lys)
n.6852T>G
n.444+6002A>C
c.6561T>G (p.Asn2187Lys)
n.7050T>G
2g.214953949A>GCA431388083ABCA12,SNHG31c.6552T>C (p.Asn2184=)
c.5598T>C (p.Asn1866=)
n.6852T>C
n.444+6002A>G
c.6561T>C (p.Asn2187=)
n.7050T>C
2g.214953949A>TCA350446161ABCA12,SNHG31c.6552T>A (p.Asn2184Lys)
c.5598T>A (p.Asn1866Lys)
n.6852T>A
n.444+6002A>T
c.6561T>A (p.Asn2187Lys)
n.7050T>A
2g.214953950T>ACA350446163ABCA12,SNHG31c.6551A>T (p.Asn2184Ile)
c.5597A>T (p.Asn1866Ile)
n.6851A>T
n.444+6003T>A
c.6560A>T (p.Asn2187Ile)
n.7049A>T
2g.214953950T>CCA350446164ABCA12,SNHG31c.6551A>G (p.Asn2184Ser)
c.5597A>G (p.Asn1866Ser)
n.6851A>G
n.444+6003T>C
c.6560A>G (p.Asn2187Ser)
n.7049A>G
2g.214953950T>GCA350446165ABCA12,SNHG31c.6551A>C (p.Asn2184Thr)
c.5597A>C (p.Asn1866Thr)
n.6851A>C
n.444+6003T>G
c.6560A>C (p.Asn2187Thr)
n.7049A>C
2g.214953951T>ACA350446166ABCA12,SNHG31c.6550A>T (p.Asn2184Tyr)
c.5596A>T (p.Asn1866Tyr)
n.6850A>T
n.444+6004T>A
c.6559A>T (p.Asn2187Tyr)
n.7048A>T
2g.214953951T>CCA350446167ABCA12,SNHG31c.6550A>G (p.Asn2184Asp)
c.5596A>G (p.Asn1866Asp)
n.6850A>G
n.444+6004T>C
c.6559A>G (p.Asn2187Asp)
n.7048A>G
2g.214953951T>GCA350446168ABCA12,SNHG31c.6550A>C (p.Asn2184His)
c.5596A>C (p.Asn1866His)
n.6850A>C
n.444+6004T>G
c.6559A>C (p.Asn2187His)
n.7048A>C
 dbSNP gnomAD v2 gnomAD v4
2g.214953951T=CA1327150083ABCA12,SNHG31c.6550A= (p.Asn2184=)
c.5596A= (p.Asn1866=)
n.6850A=
n.444+6004T=
c.6559A= (p.Asn2187=)
n.7048A=
2g.214953952C>ACA350446169ABCA12,SNHG31c.6549G>T (p.Met2183Ile)
c.5595G>T (p.Met1865Ile)
n.6849G>T
n.444+6005C>A
c.6558G>T (p.Met2186Ile)
n.7047G>T
2g.214953952C>GCA350446170ABCA12,SNHG31c.6549G>C (p.Met2183Ile)
c.5595G>C (p.Met1865Ile)
n.6849G>C
n.444+6005C>G
c.6558G>C (p.Met2186Ile)
n.7047G>C
 COSMIC
2g.214953952C>TCA350446171ABCA12,SNHG31c.6549G>A (p.Met2183Ile)
c.5595G>A (p.Met1865Ile)
n.6849G>A
n.444+6005C>T
c.6558G>A (p.Met2186Ile)
n.7047G>A
2g.214953953A>CCA350446172ABCA12,SNHG31c.6548T>G (p.Met2183Arg)
c.5594T>G (p.Met1865Arg)
n.6848T>G
n.444+6006A>C
c.6557T>G (p.Met2186Arg)
n.7046T>G
2g.214953953A>GCA350446173ABCA12,SNHG31c.6548T>C (p.Met2183Thr)
c.5594T>C (p.Met1865Thr)
n.6848T>C
n.444+6006A>G
c.6557T>C (p.Met2186Thr)
n.7046T>C
2g.214953953A>TCA350446174ABCA12,SNHG31c.6548T>A (p.Met2183Lys)
c.5594T>A (p.Met1865Lys)
n.6848T>A
n.444+6006A>T
c.6557T>A (p.Met2186Lys)
n.7046T>A
2g.214953954T>ACA350446177ABCA12,SNHG31c.6547A>T (p.Met2183Leu)
c.5593A>T (p.Met1865Leu)
n.6847A>T
n.444+6007T>A
c.6556A>T (p.Met2186Leu)
n.7045A>T
2g.214953954T>CCA350446175ABCA12,SNHG31c.6547A>G (p.Met2183Val)
c.5593A>G (p.Met1865Val)
n.6847A>G
n.444+6007T>C
c.6556A>G (p.Met2186Val)
n.7045A>G
2g.214953954T>GCA350446176ABCA12,SNHG31c.6547A>C (p.Met2183Leu)
c.5593A>C (p.Met1865Leu)
n.6847A>C
n.444+6007T>G
c.6556A>C (p.Met2186Leu)
n.7045A>C
2g.214953955C>ACA350446178ABCA12,SNHG31c.6546G>T (p.Glu2182Asp)
c.5592G>T (p.Glu1864Asp)
n.6846G>T
n.444+6008C>A
c.6555G>T (p.Glu2185Asp)
n.7044G>T
2g.214953955C=CA1327150084ABCA12,SNHG31c.6546G= (p.Glu2182=)
c.5592G= (p.Glu1864=)
n.6846G=
n.444+6008C=
c.6555G= (p.Glu2185=)
n.7044G=
2g.214953955C>GCA2090881ABCA12,SNHG31c.6546G>C (p.Glu2182Asp)
c.5592G>C (p.Glu1864Asp)
n.6846G>C
n.444+6008C>G
c.6555G>C (p.Glu2185Asp)
n.7044G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214953955C>TCA431388091ABCA12,SNHG31c.6546G>A (p.Glu2182=)
c.5592G>A (p.Glu1864=)
n.6846G>A
n.444+6008C>T
c.6555G>A (p.Glu2185=)
n.7044G>A
2g.214953956T>ACA350446179ABCA12,SNHG31c.6545A>T (p.Glu2182Val)
c.5591A>T (p.Glu1864Val)
n.6845A>T
n.444+6009T>A
c.6554A>T (p.Glu2185Val)
n.7043A>T
2g.214953956T>CCA350446180ABCA12,SNHG31c.6545A>G (p.Glu2182Gly)
c.5591A>G (p.Glu1864Gly)
n.6845A>G
n.444+6009T>C
c.6554A>G (p.Glu2185Gly)
n.7043A>G
2g.214953956T>GCA350446181ABCA12,SNHG31c.6545A>C (p.Glu2182Ala)
c.5591A>C (p.Glu1864Ala)
n.6845A>C
n.444+6009T>G
c.6554A>C (p.Glu2185Ala)
n.7043A>C
2g.214953957C>ACA350446182ABCA12,SNHG31c.6544G>T (p.Glu2182Ter)
c.5590G>T (p.Glu1864Ter)
n.6844G>T
n.444+6010C>A
c.6553G>T (p.Glu2185Ter)
n.7042G>T
2g.214953957C=CA1327150085ABCA12,SNHG31c.6544G= (p.Glu2182=)
c.5590G= (p.Glu1864=)
n.6844G=
n.444+6010C=
c.6553G= (p.Glu2185=)
n.7042G=
2g.214953957C>GCA350446183ABCA12,SNHG31c.6544G>C (p.Glu2182Gln)
c.5590G>C (p.Glu1864Gln)
n.6844G>C
n.444+6010C>G
c.6553G>C (p.Glu2185Gln)
n.7042G>C
2g.214953957C>TCA350446184ABCA12,SNHG31c.6544G>A (p.Glu2182Lys)
c.5590G>A (p.Glu1864Lys)
n.6844G>A
n.444+6010C>T
c.6553G>A (p.Glu2185Lys)
n.7042G>A
 dbSNP gnomAD v4
2g.214953958A=CA1327150086ABCA12,SNHG31c.6543T= (p.Phe2181=)
c.5589T= (p.Phe1863=)
n.6843T=
n.444+6011A=
c.6552T= (p.Phe2184=)
n.7041T=
2g.214953958A>CCA350446185ABCA12,SNHG31c.6543T>G (p.Phe2181Leu)
c.5589T>G (p.Phe1863Leu)
n.6843T>G
n.444+6011A>C
c.6552T>G (p.Phe2184Leu)
n.7041T>G
2g.214953958A>GCA2090882ABCA12,SNHG31c.6543T>C (p.Phe2181=)
c.5589T>C (p.Phe1863=)
n.6843T>C
n.444+6011A>G
c.6552T>C (p.Phe2184=)
n.7041T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214953958A>TCA350446186ABCA12,SNHG31c.6543T>A (p.Phe2181Leu)
c.5589T>A (p.Phe1863Leu)
n.6843T>A
n.444+6011A>T
c.6552T>A (p.Phe2184Leu)
n.7041T>A
2g.214953959A>CCA350446189ABCA12,SNHG31c.6542T>G (p.Phe2181Cys)
c.5588T>G (p.Phe1863Cys)
n.6842T>G
n.444+6012A>C
c.6551T>G (p.Phe2184Cys)
n.7040T>G
2g.214953959A>GCA350446188ABCA12,SNHG31c.6542T>C (p.Phe2181Ser)
c.5588T>C (p.Phe1863Ser)
n.6842T>C
n.444+6012A>G
c.6551T>C (p.Phe2184Ser)
n.7040T>C
 gnomAD v4
2g.214953959A>TCA350446187ABCA12,SNHG31c.6542T>A (p.Phe2181Tyr)
c.5588T>A (p.Phe1863Tyr)
n.6842T>A
n.444+6012A>T
c.6551T>A (p.Phe2184Tyr)
n.7040T>A
2g.214953960A>CCA350446190ABCA12,SNHG31c.6541T>G (p.Phe2181Val)
c.5587T>G (p.Phe1863Val)
n.6841T>G
n.444+6013A>C
c.6550T>G (p.Phe2184Val)
n.7039T>G
2g.214953960A>GCA350446191ABCA12,SNHG31c.6541T>C (p.Phe2181Leu)
c.5587T>C (p.Phe1863Leu)
n.6841T>C
n.444+6013A>G
c.6550T>C (p.Phe2184Leu)
n.7039T>C
 gnomAD v4
2g.214953960A>TCA350446192ABCA12,SNHG31c.6541T>A (p.Phe2181Ile)
c.5587T>A (p.Phe1863Ile)
n.6841T>A
n.444+6013A>T
c.6550T>A (p.Phe2184Ile)
n.7039T>A
2g.214953961G>ACA431388097ABCA12,SNHG31c.6540C>T (p.Thr2180=)
c.5586C>T (p.Thr1862=)
n.6840C>T
n.444+6014G>A
c.6549C>T (p.Thr2183=)
n.7038C>T
2g.214953961G>CCA431388099ABCA12,SNHG31c.6540C>G (p.Thr2180=)
c.5586C>G (p.Thr1862=)
n.6840C>G
n.444+6014G>C
c.6549C>G (p.Thr2183=)
n.7038C>G
2g.214953961G>TCA431388100ABCA12,SNHG31c.6540C>A (p.Thr2180=)
c.5586C>A (p.Thr1862=)
n.6840C>A
n.444+6014G>T
c.6549C>A (p.Thr2183=)
n.7038C>A
2g.214953962G>ACA350446193ABCA12,SNHG31c.6539C>T (p.Thr2180Ile)
c.5585C>T (p.Thr1862Ile)
n.6839C>T
n.444+6015G>A
c.6548C>T (p.Thr2183Ile)
n.7037C>T
 dbSNP gnomAD v2 gnomAD v4
2g.214953962G>CCA350446194ABCA12,SNHG31c.6539C>G (p.Thr2180Ser)
c.5585C>G (p.Thr1862Ser)
n.6839C>G
n.444+6015G>C
c.6548C>G (p.Thr2183Ser)
n.7037C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214953962G=CA1327150087ABCA12,SNHG31c.6539C= (p.Thr2180=)
c.5585C= (p.Thr1862=)
n.6839C=
n.444+6015G=
c.6548C= (p.Thr2183=)
n.7037C=
2g.214953962G>TCA350446195ABCA12,SNHG31c.6539C>A (p.Thr2180Asn)
c.5585C>A (p.Thr1862Asn)
n.6839C>A
n.444+6015G>T
c.6548C>A (p.Thr2183Asn)
n.7037C>A
 COSMIC COSMIC
2g.214953963T>ACA350446198ABCA12,SNHG31c.6538A>T (p.Thr2180Ser)
c.5584A>T (p.Thr1862Ser)
n.6838A>T
n.444+6016T>A
c.6547A>T (p.Thr2183Ser)
n.7036A>T
2g.214953963T>CCA350446196ABCA12,SNHG31c.6538A>G (p.Thr2180Ala)
c.5584A>G (p.Thr1862Ala)
n.6838A>G
n.444+6016T>C
c.6547A>G (p.Thr2183Ala)
n.7036A>G
2g.214953963T>GCA350446197ABCA12,SNHG31c.6538A>C (p.Thr2180Pro)
c.5584A>C (p.Thr1862Pro)
n.6838A>C
n.444+6016T>G
c.6547A>C (p.Thr2183Pro)
n.7036A>C
2g.214953964T>ACA350446199ABCA12,SNHG31c.6537A>T (p.Glu2179Asp)
c.5583A>T (p.Glu1861Asp)
n.6837A>T
n.444+6017T>A
c.6546A>T (p.Glu2182Asp)
n.7035A>T
2g.214953964T>CCA431388104ABCA12,SNHG31c.6537A>G (p.Glu2179=)
c.5583A>G (p.Glu1861=)
n.6837A>G
n.444+6017T>C
c.6546A>G (p.Glu2182=)
n.7035A>G
2g.214953964T>GCA350446200ABCA12,SNHG31c.6537A>C (p.Glu2179Asp)
c.5583A>C (p.Glu1861Asp)
n.6837A>C
n.444+6017T>G
c.6546A>C (p.Glu2182Asp)
n.7035A>C
2g.214953965T>ACA350446201ABCA12,SNHG31c.6536A>T (p.Glu2179Val)
c.5582A>T (p.Glu1861Val)
n.6836A>T
n.444+6018T>A
c.6545A>T (p.Glu2182Val)
n.7034A>T
2g.214953965T>CCA350446202ABCA12,SNHG31c.6536A>G (p.Glu2179Gly)
c.5582A>G (p.Glu1861Gly)
n.6836A>G
n.444+6018T>C
c.6545A>G (p.Glu2182Gly)
n.7034A>G
2g.214953965T>GCA350446203ABCA12,SNHG31c.6536A>C (p.Glu2179Ala)
c.5582A>C (p.Glu1861Ala)
n.6836A>C
n.444+6018T>G
c.6545A>C (p.Glu2182Ala)
n.7034A>C
2g.214953966C>ACA350446204ABCA12,SNHG31c.6535G>T (p.Glu2179Ter)
c.5581G>T (p.Glu1861Ter)
n.6835G>T
n.444+6019C>A
c.6544G>T (p.Glu2182Ter)
n.7033G>T
2g.214953966C>GCA350446206ABCA12,SNHG31c.6535G>C (p.Glu2179Gln)
c.5581G>C (p.Glu1861Gln)
n.6835G>C
n.444+6019C>G
c.6544G>C (p.Glu2182Gln)
n.7033G>C
2g.214953966C>TCA350446205ABCA12,SNHG31c.6535G>A (p.Glu2179Lys)
c.5581G>A (p.Glu1861Lys)
n.6835G>A
n.444+6019C>T
c.6544G>A (p.Glu2182Lys)
n.7033G>A
2g.214953967A=CA1327150088ABCA12,SNHG31c.6534T= (p.Asn2178=)
c.5580T= (p.Asn1860=)
n.6834T=
n.444+6020A=
c.6543T= (p.Asn2181=)
n.7032T=
2g.214953967A>CCA350446207ABCA12,SNHG31c.6534T>G (p.Asn2178Lys)
c.5580T>G (p.Asn1860Lys)
n.6834T>G
n.444+6020A>C
c.6543T>G (p.Asn2181Lys)
n.7032T>G
 dbSNP gnomAD v3 gnomAD v4
2g.214953967A>GCA2090883ABCA12,SNHG31c.6534T>C (p.Asn2178=)
c.5580T>C (p.Asn1860=)
n.6834T>C
n.444+6020A>G
c.6543T>C (p.Asn2181=)
n.7032T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214953967A>TCA350446208ABCA12,SNHG31c.6534T>A (p.Asn2178Lys)
c.5580T>A (p.Asn1860Lys)
n.6834T>A
n.444+6020A>T
c.6543T>A (p.Asn2181Lys)
n.7032T>A
2g.214953968T>ACA350446209ABCA12,SNHG31c.6533A>T (p.Asn2178Ile)
c.5579A>T (p.Asn1860Ile)
n.6833A>T
n.444+6021T>A
c.6542A>T (p.Asn2181Ile)
n.7031A>T
2g.214953968T>CCA350446210ABCA12,SNHG31c.6533A>G (p.Asn2178Ser)
c.5579A>G (p.Asn1860Ser)
n.6833A>G
n.444+6021T>C
c.6542A>G (p.Asn2181Ser)
n.7031A>G
2g.214953968T>GCA350446211ABCA12,SNHG31c.6533A>C (p.Asn2178Thr)
c.5579A>C (p.Asn1860Thr)
n.6833A>C
n.444+6021T>G
c.6542A>C (p.Asn2181Thr)
n.7031A>C
2g.214953969T>ACA350446212ABCA12,SNHG31c.6532A>T (p.Asn2178Tyr)
c.5578A>T (p.Asn1860Tyr)
n.6832A>T
n.444+6022T>A
c.6541A>T (p.Asn2181Tyr)
n.7030A>T
2g.214953969T>CCA350446213ABCA12,SNHG31c.6532A>G (p.Asn2178Asp)
c.5578A>G (p.Asn1860Asp)
n.6832A>G
n.444+6022T>C
c.6541A>G (p.Asn2181Asp)
n.7030A>G
2g.214953969T>GCA350446214ABCA12,SNHG31c.6532A>C (p.Asn2178His)
c.5578A>C (p.Asn1860His)
n.6832A>C
n.444+6022T>G
c.6541A>C (p.Asn2181His)
n.7030A>C
2g.214953970T>ACA431388109ABCA12,SNHG31c.6531A>T (p.Pro2177=)
c.5577A>T (p.Pro1859=)
n.6831A>T
n.444+6023T>A
c.6540A>T (p.Pro2180=)
n.7029A>T
2g.214953970T>CCA431388110ABCA12,SNHG31c.6531A>G (p.Pro2177=)
c.5577A>G (p.Pro1859=)
n.6831A>G
n.444+6023T>C
c.6540A>G (p.Pro2180=)
n.7029A>G
2g.214953970T>GCA431388111ABCA12,SNHG31c.6531A>C (p.Pro2177=)
c.5577A>C (p.Pro1859=)
n.6831A>C
n.444+6023T>G
c.6540A>C (p.Pro2180=)
n.7029A>C
2g.214953971G>ACA350446215ABCA12,SNHG31c.6530C>T (p.Pro2177Leu)
c.5576C>T (p.Pro1859Leu)
n.6830C>T
n.444+6024G>A
c.6539C>T (p.Pro2180Leu)
n.7028C>T
2g.214953971G>CCA350446216ABCA12,SNHG31c.6530C>G (p.Pro2177Arg)
c.5576C>G (p.Pro1859Arg)
n.6830C>G
n.444+6024G>C
c.6539C>G (p.Pro2180Arg)
n.7028C>G
2g.214953971G=CA1327150089ABCA12,SNHG31c.6530C= (p.Pro2177=)
c.5576C= (p.Pro1859=)
n.6830C=
n.444+6024G=
c.6539C= (p.Pro2180=)
n.7028C=
2g.214953971G>TCA350446217ABCA12,SNHG31c.6530C>A (p.Pro2177Gln)
c.5576C>A (p.Pro1859Gln)
n.6830C>A
n.444+6024G>T
c.6539C>A (p.Pro2180Gln)
n.7028C>A
 dbSNP gnomAD v2 gnomAD v4
2g.214953972G>ACA350446219ABCA12,SNHG31c.6529C>T (p.Pro2177Ser)
c.5575C>T (p.Pro1859Ser)
n.6829C>T
n.444+6025G>A
c.6538C>T (p.Pro2180Ser)
n.7027C>T
 dbSNP gnomAD v2 gnomAD v4
2g.214953972G>CCA350446220ABCA12,SNHG31c.6529C>G (p.Pro2177Ala)
c.5575C>G (p.Pro1859Ala)
n.6829C>G
n.444+6025G>C
c.6538C>G (p.Pro2180Ala)
n.7027C>G
2g.214953972G=CA1327150090ABCA12,SNHG31c.6529C= (p.Pro2177=)
c.5575C= (p.Pro1859=)
n.6829C=
n.444+6025G=
c.6538C= (p.Pro2180=)
n.7027C=
2g.214953972G>TCA350446218ABCA12,SNHG31c.6529C>A (p.Pro2177Thr)
c.5575C>A (p.Pro1859Thr)
n.6829C>A
n.444+6025G>T
c.6538C>A (p.Pro2180Thr)
n.7027C>A
 gnomAD v4
2g.214953973G>ACA431388115ABCA12,SNHG31c.6528C>T (p.Tyr2176=)
c.5574C>T (p.Tyr1858=)
n.6828C>T
n.444+6026G>A
c.6537C>T (p.Tyr2179=)
n.7026C>T
2g.214953973G>CCA350446222ABCA12,SNHG31c.6528C>G (p.Tyr2176Ter)
c.5574C>G (p.Tyr1858Ter)
n.6828C>G
n.444+6026G>C
c.6537C>G (p.Tyr2179Ter)
n.7026C>G
2g.214953973G>TCA350446221ABCA12,SNHG31c.6528C>A (p.Tyr2176Ter)
c.5574C>A (p.Tyr1858Ter)
n.6828C>A
n.444+6026G>T
c.6537C>A (p.Tyr2179Ter)
n.7026C>A
 gnomAD v4
2g.214953974T>ACA350446224ABCA12,SNHG31c.6527A>T (p.Tyr2176Phe)
c.5573A>T (p.Tyr1858Phe)
n.6827A>T
n.444+6027T>A
c.6536A>T (p.Tyr2179Phe)
n.7025A>T
2g.214953974T>CCA350446223ABCA12,SNHG31c.6527A>G (p.Tyr2176Cys)
c.5573A>G (p.Tyr1858Cys)
n.6827A>G
n.444+6027T>C
c.6536A>G (p.Tyr2179Cys)
n.7025A>G
2g.214953974T>GCA350446225ABCA12,SNHG31c.6527A>C (p.Tyr2176Ser)
c.5573A>C (p.Tyr1858Ser)
n.6827A>C
n.444+6027T>G
c.6536A>C (p.Tyr2179Ser)
n.7025A>C
2g.214953975A>CCA350446226ABCA12,SNHG31c.6526T>G (p.Tyr2176Asp)
c.5572T>G (p.Tyr1858Asp)
n.6826T>G
n.444+6028A>C
c.6535T>G (p.Tyr2179Asp)
n.7024T>G
2g.214953975A>GCA350446227ABCA12,SNHG31c.6526T>C (p.Tyr2176His)
c.5572T>C (p.Tyr1858His)
n.6826T>C
n.444+6028A>G
c.6535T>C (p.Tyr2179His)
n.7024T>C
 gnomAD v4
2g.214953975A>TCA350446228ABCA12,SNHG31c.6526T>A (p.Tyr2176Asn)
c.5572T>A (p.Tyr1858Asn)
n.6826T>A
n.444+6028A>T
c.6535T>A (p.Tyr2179Asn)
n.7024T>A
2g.214953976T>ACA350446229ABCA12,SNHG31c.6525A>T (p.Glu2175Asp)
c.5571A>T (p.Glu1857Asp)
n.6825A>T
n.444+6029T>A
c.6534A>T (p.Glu2178Asp)
n.7023A>T
2g.214953976T>CCA2090884ABCA12,SNHG31c.6525A>G (p.Glu2175=)
c.5571A>G (p.Glu1857=)
n.6825A>G
n.444+6029T>C
c.6534A>G (p.Glu2178=)
n.7023A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214953976T>GCA350446230ABCA12,SNHG31c.6525A>C (p.Glu2175Asp)
c.5571A>C (p.Glu1857Asp)
n.6825A>C
n.444+6029T>G
c.6534A>C (p.Glu2178Asp)
n.7023A>C
2g.214953976T=CA1327150091ABCA12,SNHG31c.6525A= (p.Glu2175=)
c.5571A= (p.Glu1857=)
n.6825A=
n.444+6029T=
c.6534A= (p.Glu2178=)
n.7023A=
2g.214953977T>ACA350446231ABCA12,SNHG31c.6524A>T (p.Glu2175Val)
c.5570A>T (p.Glu1857Val)
n.6824A>T
n.444+6030T>A
c.6533A>T (p.Glu2178Val)
n.7022A>T
2g.214953977T>CCA350446232ABCA12,SNHG31c.6524A>G (p.Glu2175Gly)
c.5570A>G (p.Glu1857Gly)
n.6824A>G
n.444+6030T>C
c.6533A>G (p.Glu2178Gly)
n.7022A>G
2g.214953977T>GCA350446233ABCA12,SNHG31c.6524A>C (p.Glu2175Ala)
c.5570A>C (p.Glu1857Ala)
n.6824A>C
n.444+6030T>G
c.6533A>C (p.Glu2178Ala)
n.7022A>C
 gnomAD v4
2g.214953978C>ACA350446234ABCA12,SNHG31c.6523G>T (p.Glu2175Ter)
c.5569G>T (p.Glu1857Ter)
n.6823G>T
n.444+6031C>A
c.6532G>T (p.Glu2178Ter)
n.7021G>T
2g.214953978C>GCA350446235ABCA12,SNHG31c.6523G>C (p.Glu2175Gln)
c.5569G>C (p.Glu1857Gln)
n.6823G>C
n.444+6031C>G
c.6532G>C (p.Glu2178Gln)
n.7021G>C
2g.214953978C>TCA350446236ABCA12,SNHG31c.6523G>A (p.Glu2175Lys)
c.5569G>A (p.Glu1857Lys)
n.6823G>A
n.444+6031C>T
c.6532G>A (p.Glu2178Lys)
n.7021G>A
 COSMIC COSMIC
2g.214953979C>ACA431388124ABCA12,SNHG31c.6522G>T (p.Val2174=)
c.5568G>T (p.Val1856=)
n.6822G>T
n.444+6032C>A
c.6531G>T (p.Val2177=)
n.7020G>T
2g.214953979C=CA1327150092ABCA12,SNHG31c.6522G= (p.Val2174=)
c.5568G= (p.Val1856=)
n.6822G=
n.444+6032C=
c.6531G= (p.Val2177=)
n.7020G=
2g.214953979C>GCA431388125ABCA12,SNHG31c.6522G>C (p.Val2174=)
c.5568G>C (p.Val1856=)
n.6822G>C
n.444+6032C>G
c.6531G>C (p.Val2177=)
n.7020G>C
2g.214953979C>TCA431388126ABCA12,SNHG31c.6522G>A (p.Val2174=)
c.5568G>A (p.Val1856=)
n.6822G>A
n.444+6032C>T
c.6531G>A (p.Val2177=)
n.7020G>A
 ClinVar dbSNP gnomAD v2
2g.214953980A=CA1327150093ABCA12,SNHG31c.6521T= (p.Val2174=)
c.5567T= (p.Val1856=)
n.6821T=
n.444+6033A=
c.6530T= (p.Val2177=)
n.7019T=
2g.214953980A>CCA350446238ABCA12,SNHG31c.6521T>G (p.Val2174Gly)
c.5567T>G (p.Val1856Gly)
n.6821T>G
n.444+6033A>C
c.6530T>G (p.Val2177Gly)
n.7019T>G
2g.214953980A>GCA2090885ABCA12,SNHG31c.6521T>C (p.Val2174Ala)
c.5567T>C (p.Val1856Ala)
n.6821T>C
n.444+6033A>G
c.6530T>C (p.Val2177Ala)
n.7019T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214953980A>TCA350446237ABCA12,SNHG31c.6521T>A (p.Val2174Glu)
c.5567T>A (p.Val1856Glu)
n.6821T>A
n.444+6033A>T
c.6530T>A (p.Val2177Glu)
n.7019T>A
2g.214953981C>ACA350446239ABCA12,SNHG31c.6520G>T (p.Val2174Leu)
c.5566G>T (p.Val1856Leu)
n.6820G>T
n.444+6034C>A
c.6529G>T (p.Val2177Leu)
n.7018G>T
 gnomAD v4
2g.214953981C=CA1327150094ABCA12,SNHG31c.6520G= (p.Val2174=)
c.5566G= (p.Val1856=)
n.6820G=
n.444+6034C=
c.6529G= (p.Val2177=)
n.7018G=
2g.214953981C>GCA2090886ABCA12,SNHG31c.6520G>C (p.Val2174Leu)
c.5566G>C (p.Val1856Leu)
n.6820G>C
n.444+6034C>G
c.6529G>C (p.Val2177Leu)
n.7018G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214953981C>TCA350446240ABCA12,SNHG31c.6520G>A (p.Val2174Met)
c.5566G>A (p.Val1856Met)
n.6820G>A
n.444+6034C>T
c.6529G>A (p.Val2177Met)
n.7018G>A
2g.214953982T>ACA431388128ABCA12,SNHG31c.6519A>T (p.Gly2173=)
c.5565A>T (p.Gly1855=)
n.6819A>T
n.444+6035T>A
c.6528A>T (p.Gly2176=)
n.7017A>T
2g.214953982T>CCA431388130ABCA12,SNHG31c.6519A>G (p.Gly2173=)
c.5565A>G (p.Gly1855=)
n.6819A>G
n.444+6035T>C
c.6528A>G (p.Gly2176=)
n.7017A>G
2g.214953982T>GCA2090887ABCA12,SNHG31c.6519A>C (p.Gly2173=)
c.5565A>C (p.Gly1855=)
n.6819A>C
n.444+6035T>G
c.6528A>C (p.Gly2176=)
n.7017A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214953982T=CA1327150095ABCA12,SNHG31c.6519A= (p.Gly2173=)
c.5565A= (p.Gly1855=)
n.6819A=
n.444+6035T=
c.6528A= (p.Gly2176=)
n.7017A=
2g.214953983C>ACA350446241ABCA12,SNHG31c.6518G>T (p.Gly2173Val)
c.5564G>T (p.Gly1855Val)
n.6818G>T
n.444+6036C>A
c.6527G>T (p.Gly2176Val)
n.7016G>T
2g.214953983C>GCA350446242ABCA12,SNHG31c.6518G>C (p.Gly2173Ala)
c.5564G>C (p.Gly1855Ala)
n.6818G>C
n.444+6036C>G
c.6527G>C (p.Gly2176Ala)
n.7016G>C
 gnomAD v4
2g.214953983C>TCA350446243ABCA12,SNHG31c.6518G>A (p.Gly2173Glu)
c.5564G>A (p.Gly1855Glu)
n.6818G>A
n.444+6036C>T
c.6527G>A (p.Gly2176Glu)
n.7016G>A
2g.214953984C>ACA350446244ABCA12,SNHG31c.6517G>T (p.Gly2173Ter)
c.5563G>T (p.Gly1855Ter)
n.6817G>T
n.444+6037C>A
c.6526G>T (p.Gly2176Ter)
n.7015G>T
2g.214953984C=CA1327150096ABCA12,SNHG31c.6517G= (p.Gly2173=)
c.5563G= (p.Gly1855=)
n.6817G=
n.444+6037C=
c.6526G= (p.Gly2176=)
n.7015G=
2g.214953984C>GCA350446245ABCA12,SNHG31c.6517G>C (p.Gly2173Arg)
c.5563G>C (p.Gly1855Arg)
n.6817G>C
n.444+6037C>G
c.6526G>C (p.Gly2176Arg)
n.7015G>C
2g.214953984C>TCA350446246ABCA12,SNHG31c.6517G>A (p.Gly2173Arg)
c.5563G>A (p.Gly1855Arg)
n.6817G>A
n.444+6037C>T
c.6526G>A (p.Gly2176Arg)
n.7015G>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.214953985A>CCA350446247ABCA12,SNHG31c.6516T>G (p.Tyr2172Ter)
c.5562T>G (p.Tyr1854Ter)
n.6816T>G
n.444+6038A>C
c.6525T>G (p.Tyr2175Ter)
n.7014T>G
2g.214953985A>GCA431388134ABCA12,SNHG31c.6516T>C (p.Tyr2172=)
c.5562T>C (p.Tyr1854=)
n.6816T>C
n.444+6038A>G
c.6525T>C (p.Tyr2175=)
n.7014T>C
2g.214953985A>TCA350446248ABCA12,SNHG31c.6516T>A (p.Tyr2172Ter)
c.5562T>A (p.Tyr1854Ter)
n.6816T>A
n.444+6038A>T
c.6525T>A (p.Tyr2175Ter)
n.7014T>A
2g.214953986T>ACA2090888ABCA12,SNHG31c.6515A>T (p.Tyr2172Phe)
c.5561A>T (p.Tyr1854Phe)
n.6815A>T
n.444+6039T>A
c.6524A>T (p.Tyr2175Phe)
n.7013A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214953986T>CCA350446250ABCA12,SNHG31c.6515A>G (p.Tyr2172Cys)
c.5561A>G (p.Tyr1854Cys)
n.6815A>G
n.444+6039T>C
c.6524A>G (p.Tyr2175Cys)
n.7013A>G
 ClinVar gnomAD v4
2g.214953986T>GCA350446249ABCA12,SNHG31c.6515A>C (p.Tyr2172Ser)
c.5561A>C (p.Tyr1854Ser)
n.6815A>C
n.444+6039T>G
c.6524A>C (p.Tyr2175Ser)
n.7013A>C
2g.214953986T=CA1327150097ABCA12,SNHG31c.6515A= (p.Tyr2172=)
c.5561A= (p.Tyr1854=)
n.6815A=
n.444+6039T=
c.6524A= (p.Tyr2175=)
n.7013A=
2g.214953987A=CA1327150098ABCA12,SNHG31c.6514T= (p.Tyr2172=)
c.5560T= (p.Tyr1854=)
n.6814T=
n.444+6040A=
c.6523T= (p.Tyr2175=)
n.7012T=
2g.214953987A>CCA350446251ABCA12,SNHG31c.6514T>G (p.Tyr2172Asp)
c.5560T>G (p.Tyr1854Asp)
n.6814T>G
n.444+6040A>C
c.6523T>G (p.Tyr2175Asp)
n.7012T>G
2g.214953987A>GCA2090889ABCA12,SNHG31c.6514T>C (p.Tyr2172His)
c.5560T>C (p.Tyr1854His)
n.6814T>C
n.444+6040A>G
c.6523T>C (p.Tyr2175His)
n.7012T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214953987A>TCA350446252ABCA12,SNHG31c.6514T>A (p.Tyr2172Asn)
c.5560T>A (p.Tyr1854Asn)
n.6814T>A
n.444+6040A>T
c.6523T>A (p.Tyr2175Asn)
n.7012T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214953988T>ACA431388137ABCA12,SNHG31c.6513A>T (p.Ala2171=)
c.5559A>T (p.Ala1853=)
n.6813A>T
n.444+6041T>A
c.6522A>T (p.Ala2174=)
n.7011A>T
 dbSNP
2g.214953988T>CCA431388138ABCA12,SNHG31c.6513A>G (p.Ala2171=)
c.5559A>G (p.Ala1853=)
n.6813A>G
n.444+6041T>C
c.6522A>G (p.Ala2174=)
n.7011A>G
 gnomAD v4
2g.214953988T>GCA431388139ABCA12,SNHG31c.6513A>C (p.Ala2171=)
c.5559A>C (p.Ala1853=)
n.6813A>C
n.444+6041T>G
c.6522A>C (p.Ala2174=)
n.7011A>C
2g.214953988T=CA1327150099ABCA12,SNHG31c.6513A= (p.Ala2171=)
c.5559A= (p.Ala1853=)
n.6813A=
n.444+6041T=
c.6522A= (p.Ala2174=)
n.7011A=
2g.214953989G>ACA350446253ABCA12,SNHG31c.6512C>T (p.Ala2171Val)
c.5558C>T (p.Ala1853Val)
n.6812C>T
n.444+6042G>A
c.6521C>T (p.Ala2174Val)
n.7010C>T
2g.214953989G>CCA350446254ABCA12,SNHG31c.6512C>G (p.Ala2171Gly)
c.5558C>G (p.Ala1853Gly)
n.6812C>G
n.444+6042G>C
c.6521C>G (p.Ala2174Gly)
n.7010C>G
2g.214953989G>TCA350446255ABCA12,SNHG31c.6512C>A (p.Ala2171Glu)
c.5558C>A (p.Ala1853Glu)
n.6812C>A
n.444+6042G>T
c.6521C>A (p.Ala2174Glu)
n.7010C>A
2g.214953990C>ACA350446258ABCA12,SNHG31c.6511G>T (p.Ala2171Ser)
c.5557G>T (p.Ala1853Ser)
n.6811G>T
n.444+6043C>A
c.6520G>T (p.Ala2174Ser)
n.7009G>T
2g.214953990C>GCA350446256ABCA12,SNHG31c.6511G>C (p.Ala2171Pro)
c.5557G>C (p.Ala1853Pro)
n.6811G>C
n.444+6043C>G
c.6520G>C (p.Ala2174Pro)
n.7009G>C
2g.214953990C>TCA350446257ABCA12,SNHG31c.6511G>A (p.Ala2171Thr)
c.5557G>A (p.Ala1853Thr)
n.6811G>A
n.444+6043C>T
c.6520G>A (p.Ala2174Thr)
n.7009G>A
2g.214953991T>ACA350446259ABCA12,SNHG31c.6510A>T (p.Lys2170Asn)
c.5556A>T (p.Lys1852Asn)
n.6810A>T
n.444+6044T>A
c.6519A>T (p.Lys2173Asn)
n.7008A>T
2g.214953991T>CCA431388145ABCA12,SNHG31c.6510A>G (p.Lys2170=)
c.5556A>G (p.Lys1852=)
n.6810A>G
n.444+6044T>C
c.6519A>G (p.Lys2173=)
n.7008A>G
 dbSNP gnomAD v4
2g.214953991T>GCA350446260ABCA12,SNHG31c.6510A>C (p.Lys2170Asn)
c.5556A>C (p.Lys1852Asn)
n.6810A>C
n.444+6044T>G
c.6519A>C (p.Lys2173Asn)
n.7008A>C
2g.214953991T=CA1327150100ABCA12,SNHG31c.6510A= (p.Lys2170=)
c.5556A= (p.Lys1852=)
n.6810A=
n.444+6044T=
c.6519A= (p.Lys2173=)
n.7008A=
2g.214953992T>ACA350446261ABCA12,SNHG31c.6509A>T (p.Lys2170Ile)
c.5555A>T (p.Lys1852Ile)
n.6809A>T
n.444+6045T>A
c.6518A>T (p.Lys2173Ile)
n.7007A>T
2g.214953992T>CCA350446262ABCA12,SNHG31c.6509A>G (p.Lys2170Arg)
c.5555A>G (p.Lys1852Arg)
n.6809A>G
n.444+6045T>C
c.6518A>G (p.Lys2173Arg)
n.7007A>G
 gnomAD v4
2g.214953992T>GCA350446263ABCA12,SNHG31c.6509A>C (p.Lys2170Thr)
c.5555A>C (p.Lys1852Thr)
n.6809A>C
n.444+6045T>G
c.6518A>C (p.Lys2173Thr)
n.7007A>C
2g.214953993T>ACA350446264ABCA12,SNHG31c.6508A>T (p.Lys2170Ter)
c.5554A>T (p.Lys1852Ter)
n.6808A>T
n.444+6046T>A
c.6517A>T (p.Lys2173Ter)
n.7006A>T
2g.214953993T>CCA350446266ABCA12,SNHG31c.6508A>G (p.Lys2170Glu)
c.5554A>G (p.Lys1852Glu)
n.6808A>G
n.444+6046T>C
c.6517A>G (p.Lys2173Glu)
n.7006A>G
2g.214953993T>GCA350446265ABCA12,SNHG31c.6508A>C (p.Lys2170Gln)
c.5554A>C (p.Lys1852Gln)
n.6808A>C
n.444+6046T>G
c.6517A>C (p.Lys2173Gln)
n.7006A>C
2g.214953994T>ACA350446267ABCA12,SNHG31c.6507A>T (p.Leu2169Phe)
c.5553A>T (p.Leu1851Phe)
n.6807A>T
n.444+6047T>A
c.6516A>T (p.Leu2172Phe)
n.7005A>T
2g.214953994T>CCA431388148ABCA12,SNHG31c.6507A>G (p.Leu2169=)
c.5553A>G (p.Leu1851=)
n.6807A>G
n.444+6047T>C
c.6516A>G (p.Leu2172=)
n.7005A>G
2g.214953994T>GCA350446268ABCA12,SNHG31c.6507A>C (p.Leu2169Phe)
c.5553A>C (p.Leu1851Phe)
n.6807A>C
n.444+6047T>G
c.6516A>C (p.Leu2172Phe)
n.7005A>C
2g.214953995A>CCA350446269ABCA12,SNHG31c.6506T>G (p.Leu2169Ter)
c.5552T>G (p.Leu1851Ter)
n.6806T>G
n.444+6048A>C
c.6515T>G (p.Leu2172Ter)
n.7004T>G
2g.214953995A>GCA350446270ABCA12,SNHG31c.6506T>C (p.Leu2169Ser)
c.5552T>C (p.Leu1851Ser)
n.6806T>C
n.444+6048A>G
c.6515T>C (p.Leu2172Ser)
n.7004T>C
2g.214953995A>TCA350446271ABCA12,SNHG31c.6506T>A (p.Leu2169Ter)
c.5552T>A (p.Leu1851Ter)
n.6806T>A
n.444+6048A>T
c.6515T>A (p.Leu2172Ter)
n.7004T>A
2g.214953996A>CCA350446272ABCA12,SNHG31c.6505T>G (p.Leu2169Val)
c.5551T>G (p.Leu1851Val)
n.6805T>G
n.444+6049A>C
c.6514T>G (p.Leu2172Val)
n.7003T>G
2g.214953996A>GCA431388151ABCA12,SNHG31c.6505T>C (p.Leu2169=)
c.5551T>C (p.Leu1851=)
n.6805T>C
n.444+6049A>G
c.6514T>C (p.Leu2172=)
n.7003T>C
2g.214953996A>TCA350446273ABCA12,SNHG31c.6505T>A (p.Leu2169Ile)
c.5551T>A (p.Leu1851Ile)
n.6805T>A
n.444+6049A>T
c.6514T>A (p.Leu2172Ile)
n.7003T>A
2g.214953997G>ACA2090890ABCA12,SNHG31c.6504C>T (p.Phe2168=)
c.5550C>T (p.Phe1850=)
n.6804C>T
n.444+6050G>A
c.6513C>T (p.Phe2171=)
n.7002C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.214953997G>CCA350446274ABCA12,SNHG31c.6504C>G (p.Phe2168Leu)
c.5550C>G (p.Phe1850Leu)
n.6804C>G
n.444+6050G>C
c.6513C>G (p.Phe2171Leu)
n.7002C>G
2g.214953997G=CA1327150101ABCA12,SNHG31c.6504C= (p.Phe2168=)
c.5550C= (p.Phe1850=)
n.6804C=
n.444+6050G=
c.6513C= (p.Phe2171=)
n.7002C=
2g.214953997G>TCA350446275ABCA12,SNHG31c.6504C>A (p.Phe2168Leu)
c.5550C>A (p.Phe1850Leu)
n.6804C>A
n.444+6050G>T
c.6513C>A (p.Phe2171Leu)
n.7002C>A
 gnomAD v4
2g.214953998A=CA1327150102ABCA12,SNHG31c.6503T= (p.Phe2168=)
c.5549T= (p.Phe1850=)
n.6803T=
n.444+6051A=
c.6512T= (p.Phe2171=)
n.7001T=
2g.214953998A>CCA350446278ABCA12,SNHG31c.6503T>G (p.Phe2168Cys)
c.5549T>G (p.Phe1850Cys)
n.6803T>G
n.444+6051A>C
c.6512T>G (p.Phe2171Cys)
n.7001T>G
2g.214953998A>GCA350446277ABCA12,SNHG31c.6503T>C (p.Phe2168Ser)
c.5549T>C (p.Phe1850Ser)
n.6803T>C
n.444+6051A>G
c.6512T>C (p.Phe2171Ser)
n.7001T>C
2g.214953998A>TCA350446276ABCA12,SNHG31c.6503T>A (p.Phe2168Tyr)
c.5549T>A (p.Phe1850Tyr)
n.6803T>A
n.444+6051A>T
c.6512T>A (p.Phe2171Tyr)
n.7001T>A
 dbSNP
2g.214953999A>CCA350446279ABCA12,SNHG31c.6502T>G (p.Phe2168Val)
c.5548T>G (p.Phe1850Val)
n.6802T>G
n.444+6052A>C
c.6511T>G (p.Phe2171Val)
n.7000T>G
2g.214953999A>GCA350446281ABCA12,SNHG31c.6502T>C (p.Phe2168Leu)
c.5548T>C (p.Phe1850Leu)
n.6802T>C
n.444+6052A>G
c.6511T>C (p.Phe2171Leu)
n.7000T>C
2g.214953999A>TCA350446280ABCA12,SNHG31c.6502T>A (p.Phe2168Ile)
c.5548T>A (p.Phe1850Ile)
n.6802T>A
n.444+6052A>T
c.6511T>A (p.Phe2171Ile)
n.7000T>A
2g.214954000G>ACA2090891ABCA12,SNHG31c.6501C>T (p.Asp2167=)
c.5547C>T (p.Asp1849=)
n.6801C>T
n.444+6053G>A
c.6510C>T (p.Asp2170=)
n.6999C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214954000G>CCA350446282ABCA12,SNHG31c.6501C>G (p.Asp2167Glu)
c.5547C>G (p.Asp1849Glu)
n.6801C>G
n.444+6053G>C
c.6510C>G (p.Asp2170Glu)
n.6999C>G
2g.214954000G=CA1327150103ABCA12,SNHG31c.6501C= (p.Asp2167=)
c.5547C= (p.Asp1849=)
n.6801C=
n.444+6053G=
c.6510C= (p.Asp2170=)
n.6999C=
2g.214954000G>TCA350446283ABCA12,SNHG31c.6501C>A (p.Asp2167Glu)
c.5547C>A (p.Asp1849Glu)
n.6801C>A
n.444+6053G>T
c.6510C>A (p.Asp2170Glu)
n.6999C>A
2g.214954001T>ACA350446284ABCA12,SNHG31c.6500A>T (p.Asp2167Val)
c.5546A>T (p.Asp1849Val)
n.6800A>T
n.444+6054T>A
c.6509A>T (p.Asp2170Val)
n.6998A>T
2g.214954001T>CCA350446285ABCA12,SNHG31c.6500A>G (p.Asp2167Gly)
c.5546A>G (p.Asp1849Gly)
n.6800A>G
n.444+6054T>C
c.6509A>G (p.Asp2170Gly)
n.6998A>G
 dbSNP gnomAD v2 gnomAD v4
2g.214954001T>GCA350446286ABCA12,SNHG31c.6500A>C (p.Asp2167Ala)
c.5546A>C (p.Asp1849Ala)
n.6800A>C
n.444+6054T>G
c.6509A>C (p.Asp2170Ala)
n.6998A>C
2g.214954001T=CA1327150104ABCA12,SNHG31c.6500A= (p.Asp2167=)
c.5546A= (p.Asp1849=)
n.6800A=
n.444+6054T=
c.6509A= (p.Asp2170=)
n.6998A=
2g.214954002C>ACA350446287ABCA12,SNHG31c.6499G>T (p.Asp2167Tyr)
c.5545G>T (p.Asp1849Tyr)
n.6799G>T
n.444+6055C>A
c.6508G>T (p.Asp2170Tyr)
n.6997G>T
2g.214954002C>GCA350446288ABCA12,SNHG31c.6499G>C (p.Asp2167His)
c.5545G>C (p.Asp1849His)
n.6799G>C
n.444+6055C>G
c.6508G>C (p.Asp2170His)
n.6997G>C
2g.214954002C>TCA350446289ABCA12,SNHG31c.6499G>A (p.Asp2167Asn)
c.5545G>A (p.Asp1849Asn)
n.6799G>A
n.444+6055C>T
c.6508G>A (p.Asp2170Asn)
n.6997G>A
2g.214954003T>ACA431388156ABCA12,SNHG31c.6498A>T (p.Leu2166=)
c.5544A>T (p.Leu1848=)
n.6798A>T
n.444+6056T>A
c.6507A>T (p.Leu2169=)
n.6996A>T
2g.214954003T>CCA431388158ABCA12,SNHG31c.6498A>G (p.Leu2166=)
c.5544A>G (p.Leu1848=)
n.6798A>G
n.444+6056T>C
c.6507A>G (p.Leu2169=)
n.6996A>G
2g.214954003T>GCA431388159ABCA12,SNHG31c.6498A>C (p.Leu2166=)
c.5544A>C (p.Leu1848=)
n.6798A>C
n.444+6056T>G
c.6507A>C (p.Leu2169=)
n.6996A>C
2g.214954004A>CCA350446290ABCA12,SNHG31c.6497T>G (p.Leu2166Arg)
c.5543T>G (p.Leu1848Arg)
n.6797T>G
n.444+6057A>C
c.6506T>G (p.Leu2169Arg)
n.6995T>G
2g.214954004A>GCA350446291ABCA12,SNHG31c.6497T>C (p.Leu2166Pro)
c.5543T>C (p.Leu1848Pro)
n.6797T>C
n.444+6057A>G
c.6506T>C (p.Leu2169Pro)
n.6995T>C
2g.214954004A>TCA350446292ABCA12,SNHG31c.6497T>A (p.Leu2166Gln)
c.5543T>A (p.Leu1848Gln)
n.6797T>A
n.444+6057A>T
c.6506T>A (p.Leu2169Gln)
n.6995T>A
2g.214954005G>ACA431388161ABCA12,SNHG31c.6496C>T (p.Leu2166=)
c.5542C>T (p.Leu1848=)
n.6796C>T
n.444+6058G>A
c.6505C>T (p.Leu2169=)
n.6994C>T
2g.214954005G>CCA350446294ABCA12,SNHG31c.6496C>G (p.Leu2166Val)
c.5542C>G (p.Leu1848Val)
n.6796C>G
n.444+6058G>C
c.6505C>G (p.Leu2169Val)
n.6994C>G
2g.214954005G>TCA350446293ABCA12,SNHG31c.6496C>A (p.Leu2166Ile)
c.5542C>A (p.Leu1848Ile)
n.6796C>A
n.444+6058G>T
c.6505C>A (p.Leu2169Ile)
n.6994C>A
2g.214954006G>ACA431388163ABCA12,SNHG31c.6495C>T (p.Val2165=)
c.5541C>T (p.Val1847=)
n.6795C>T
n.444+6059G>A
c.6504C>T (p.Val2168=)
n.6993C>T
2g.214954006G>CCA431388164ABCA12,SNHG31c.6495C>G (p.Val2165=)
c.5541C>G (p.Val1847=)
n.6795C>G
n.444+6059G>C
c.6504C>G (p.Val2168=)
n.6993C>G
2g.214954006G>TCA431388165ABCA12,SNHG31c.6495C>A (p.Val2165=)
c.5541C>A (p.Val1847=)
n.6795C>A
n.444+6059G>T
c.6504C>A (p.Val2168=)
n.6993C>A

Number of alleles fetched