Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.214953915G>A | CA350446089 | ABCA12,SNHG31 | c.6586C>T (p.Gln2196Ter) c.5632C>T (p.Gln1878Ter) n.6886C>T n.444+5968G>A c.6595C>T (p.Gln2199Ter) n.7084C>T | |
2 | g.214953915G>C | CA350446090 | ABCA12,SNHG31 | c.6586C>G (p.Gln2196Glu) c.5632C>G (p.Gln1878Glu) n.6886C>G n.444+5968G>C c.6595C>G (p.Gln2199Glu) n.7084C>G | |
2 | g.214953915G>T | CA350446091 | ABCA12,SNHG31 | c.6586C>A (p.Gln2196Lys) c.5632C>A (p.Gln1878Lys) n.6886C>A n.444+5968G>T c.6595C>A (p.Gln2199Lys) n.7084C>A | |
2 | g.214953916A>C | CA431388019 | ABCA12,SNHG31 | c.6585T>G (p.Ser2195=) c.5631T>G (p.Ser1877=) n.6885T>G n.444+5969A>C c.6594T>G (p.Ser2198=) n.7083T>G | |
2 | g.214953916A>G | CA431388020 | ABCA12,SNHG31 | c.6585T>C (p.Ser2195=) c.5631T>C (p.Ser1877=) n.6885T>C n.444+5969A>G c.6594T>C (p.Ser2198=) n.7083T>C | |
2 | g.214953916A>T | CA431388021 | ABCA12,SNHG31 | c.6585T>A (p.Ser2195=) c.5631T>A (p.Ser1877=) n.6885T>A n.444+5969A>T c.6594T>A (p.Ser2198=) n.7083T>A | |
2 | g.214953917G>A | CA350446092 | ABCA12,SNHG31 | c.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 |
2 | g.214953917G>C | CA350446093 | ABCA12,SNHG31 | c.6584C>G (p.Ser2195Cys) c.5630C>G (p.Ser1877Cys) n.6884C>G n.444+5970G>C c.6593C>G (p.Ser2198Cys) n.7082C>G | |
2 | g.214953917G>T | CA350446094 | ABCA12,SNHG31 | c.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 |
2 | g.214953918A>C | CA350446095 | ABCA12,SNHG31 | c.6583T>G (p.Ser2195Ala) c.5629T>G (p.Ser1877Ala) n.6883T>G n.444+5971A>C c.6592T>G (p.Ser2198Ala) n.7081T>G | |
2 | g.214953918A>G | CA350446096 | ABCA12,SNHG31 | c.6583T>C (p.Ser2195Pro) c.5629T>C (p.Ser1877Pro) n.6883T>C n.444+5971A>G c.6592T>C (p.Ser2198Pro) n.7081T>C | |
2 | g.214953918A>T | CA350446097 | ABCA12,SNHG31 | c.6583T>A (p.Ser2195Thr) c.5629T>A (p.Ser1877Thr) n.6883T>A n.444+5971A>T c.6592T>A (p.Ser2198Thr) n.7081T>A | |
2 | g.214953919A>C | CA431388026 | ABCA12,SNHG31 | c.6582T>G (p.Val2194=) c.5628T>G (p.Val1876=) n.6882T>G n.444+5972A>C c.6591T>G (p.Val2197=) n.7080T>G | |
2 | g.214953919A>G | CA431388028 | ABCA12,SNHG31 | c.6582T>C (p.Val2194=) c.5628T>C (p.Val1876=) n.6882T>C n.444+5972A>G c.6591T>C (p.Val2197=) n.7080T>C | |
2 | g.214953919A>T | CA431388030 | ABCA12,SNHG31 | c.6582T>A (p.Val2194=) c.5628T>A (p.Val1876=) n.6882T>A n.444+5972A>T c.6591T>A (p.Val2197=) n.7080T>A | |
2 | g.214953920A>C | CA350446098 | ABCA12,SNHG31 | c.6581T>G (p.Val2194Gly) c.5627T>G (p.Val1876Gly) n.6881T>G n.444+5973A>C c.6590T>G (p.Val2197Gly) n.7079T>G | |
2 | g.214953920A>G | CA350446099 | ABCA12,SNHG31 | c.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 |
2 | g.214953920A>T | CA350446100 | ABCA12,SNHG31 | c.6581T>A (p.Val2194Asp) c.5627T>A (p.Val1876Asp) n.6881T>A n.444+5973A>T c.6590T>A (p.Val2197Asp) n.7079T>A | |
2 | g.214953921C>A | CA2090878 | ABCA12,SNHG31 | c.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 |
2 | g.214953921C= | CA1327150074 | ABCA12,SNHG31 | c.6580G= (p.Val2194=) c.5626G= (p.Val1876=) n.6880G= n.444+5974C= c.6589G= (p.Val2197=) n.7078G= | |
2 | g.214953921C>G | CA350446102 | ABCA12,SNHG31 | c.6580G>C (p.Val2194Leu) c.5626G>C (p.Val1876Leu) n.6880G>C n.444+5974C>G c.6589G>C (p.Val2197Leu) n.7078G>C | |
2 | g.214953921C>T | CA350446101 | ABCA12,SNHG31 | c.6580G>A (p.Val2194Ile) c.5626G>A (p.Val1876Ile) n.6880G>A n.444+5974C>T c.6589G>A (p.Val2197Ile) n.7078G>A | |
2 | g.214953922C>A | CA350446103 | ABCA12,SNHG31 | c.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 |
2 | g.214953922C= | CA1327150075 | ABCA12,SNHG31 | c.6579G= (p.Leu2193=) c.5625G= (p.Leu1875=) n.6879G= n.444+5975C= c.6588G= (p.Leu2196=) n.7077G= | |
2 | g.214953922C>G | CA350446104 | ABCA12,SNHG31 | c.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 |
2 | g.214953922C>T | CA431388032 | ABCA12,SNHG31 | c.6579G>A (p.Leu2193=) c.5625G>A (p.Leu1875=) n.6879G>A n.444+5975C>T c.6588G>A (p.Leu2196=) n.7077G>A | |
2 | g.214953923A= | CA1327150076 | ABCA12,SNHG31 | c.6578T= (p.Leu2193=) c.5624T= (p.Leu1875=) n.6878T= n.444+5976A= c.6587T= (p.Leu2196=) n.7076T= | |
2 | g.214953923A>C | CA350446105 | ABCA12,SNHG31 | c.6578T>G (p.Leu2193Trp) c.5624T>G (p.Leu1875Trp) n.6878T>G n.444+5976A>C c.6587T>G (p.Leu2196Trp) n.7076T>G | |
2 | g.214953923A>G | CA64797574 | ABCA12,SNHG31 | c.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 |
2 | g.214953923A>T | CA350446106 | ABCA12,SNHG31 | c.6578T>A (p.Leu2193Ter) c.5624T>A (p.Leu1875Ter) n.6878T>A n.444+5976A>T c.6587T>A (p.Leu2196Ter) n.7076T>A | |
2 | g.214953924A>C | CA350446107 | ABCA12,SNHG31 | c.6577T>G (p.Leu2193Val) c.5623T>G (p.Leu1875Val) n.6877T>G n.444+5977A>C c.6586T>G (p.Leu2196Val) n.7075T>G | |
2 | g.214953924A>G | CA431388037 | ABCA12,SNHG31 | c.6577T>C (p.Leu2193=) c.5623T>C (p.Leu1875=) n.6877T>C n.444+5977A>G c.6586T>C (p.Leu2196=) n.7075T>C | |
2 | g.214953924A>T | CA350446108 | ABCA12,SNHG31 | c.6577T>A (p.Leu2193Met) c.5623T>A (p.Leu1875Met) n.6877T>A n.444+5977A>T c.6586T>A (p.Leu2196Met) n.7075T>A | |
2 | g.214953925A>C | CA431388040 | ABCA12,SNHG31 | c.6576T>G (p.Ala2192=) c.5622T>G (p.Ala1874=) n.6876T>G n.444+5978A>C c.6585T>G (p.Ala2195=) n.7074T>G | |
2 | g.214953925A>G | CA431388039 | ABCA12,SNHG31 | c.6576T>C (p.Ala2192=) c.5622T>C (p.Ala1874=) n.6876T>C n.444+5978A>G c.6585T>C (p.Ala2195=) n.7074T>C | |
2 | g.214953925A>T | CA431388038 | ABCA12,SNHG31 | c.6576T>A (p.Ala2192=) c.5622T>A (p.Ala1874=) n.6876T>A n.444+5978A>T c.6585T>A (p.Ala2195=) n.7074T>A | |
2 | g.214953926G>A | CA350446111 | ABCA12,SNHG31 | c.6575C>T (p.Ala2192Val) c.5621C>T (p.Ala1874Val) n.6875C>T n.444+5979G>A c.6584C>T (p.Ala2195Val) n.7073C>T | |
2 | g.214953926G>C | CA350446110 | ABCA12,SNHG31 | c.6575C>G (p.Ala2192Gly) c.5621C>G (p.Ala1874Gly) n.6875C>G n.444+5979G>C c.6584C>G (p.Ala2195Gly) n.7073C>G | |
2 | g.214953926G>T | CA350446109 | ABCA12,SNHG31 | c.6575C>A (p.Ala2192Asp) c.5621C>A (p.Ala1874Asp) n.6875C>A n.444+5979G>T c.6584C>A (p.Ala2195Asp) n.7073C>A | |
2 | g.214953927C>A | CA350446112 | ABCA12,SNHG31 | c.6574G>T (p.Ala2192Ser) c.5620G>T (p.Ala1874Ser) n.6874G>T n.444+5980C>A c.6583G>T (p.Ala2195Ser) n.7072G>T | |
2 | g.214953927C>G | CA350446113 | ABCA12,SNHG31 | c.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 |
2 | g.214953927C>T | CA350446114 | ABCA12,SNHG31 | c.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 |
2 | g.214953928C>A | CA431388044 | ABCA12,SNHG31 | c.6573G>T (p.Val2191=) c.5619G>T (p.Val1873=) n.6873G>T n.444+5981C>A c.6582G>T (p.Val2194=) n.7071G>T | |
2 | g.214953928C>G | CA431388045 | ABCA12,SNHG31 | c.6573G>C (p.Val2191=) c.5619G>C (p.Val1873=) n.6873G>C n.444+5981C>G c.6582G>C (p.Val2194=) n.7071G>C | |
2 | g.214953928C>T | CA431388046 | ABCA12,SNHG31 | c.6573G>A (p.Val2191=) c.5619G>A (p.Val1873=) n.6873G>A n.444+5981C>T c.6582G>A (p.Val2194=) n.7071G>A | |
2 | g.214953929A>C | CA350446115 | ABCA12,SNHG31 | c.6572T>G (p.Val2191Gly) c.5618T>G (p.Val1873Gly) n.6872T>G n.444+5982A>C c.6581T>G (p.Val2194Gly) n.7070T>G | |
2 | g.214953929A>G | CA350446116 | ABCA12,SNHG31 | c.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 |
2 | g.214953929A>T | CA350446117 | ABCA12,SNHG31 | c.6572T>A (p.Val2191Glu) c.5618T>A (p.Val1873Glu) n.6872T>A n.444+5982A>T c.6581T>A (p.Val2194Glu) n.7070T>A | |
2 | g.214953930C>A | CA350446118 | ABCA12,SNHG31 | c.6571G>T (p.Val2191Leu) c.5617G>T (p.Val1873Leu) n.6871G>T n.444+5983C>A c.6580G>T (p.Val2194Leu) n.7069G>T | |
2 | g.214953930C>G | CA350446120 | ABCA12,SNHG31 | c.6571G>C (p.Val2191Leu) c.5617G>C (p.Val1873Leu) n.6871G>C n.444+5983C>G c.6580G>C (p.Val2194Leu) n.7069G>C | |
2 | g.214953930C>T | CA350446119 | ABCA12,SNHG31 | c.6571G>A (p.Val2191Met) c.5617G>A (p.Val1873Met) n.6871G>A n.444+5983C>T c.6580G>A (p.Val2194Met) n.7069G>A | |
2 | g.214953931A>C | CA350446121 | ABCA12,SNHG31 | c.6570T>G (p.Phe2190Leu) c.5616T>G (p.Phe1872Leu) n.6870T>G n.444+5984A>C c.6579T>G (p.Phe2193Leu) n.7068T>G | |
2 | g.214953931A>G | CA431388050 | ABCA12,SNHG31 | c.6570T>C (p.Phe2190=) c.5616T>C (p.Phe1872=) n.6870T>C n.444+5984A>G c.6579T>C (p.Phe2193=) n.7068T>C | |
2 | g.214953931A>T | CA350446122 | ABCA12,SNHG31 | c.6570T>A (p.Phe2190Leu) c.5616T>A (p.Phe1872Leu) n.6870T>A n.444+5984A>T c.6579T>A (p.Phe2193Leu) n.7068T>A | |
2 | g.214953932A>C | CA350446123 | ABCA12,SNHG31 | c.6569T>G (p.Phe2190Cys) c.5615T>G (p.Phe1872Cys) n.6869T>G n.444+5985A>C c.6578T>G (p.Phe2193Cys) n.7067T>G | |
2 | g.214953932A>G | CA350446124 | ABCA12,SNHG31 | c.6569T>C (p.Phe2190Ser) c.5615T>C (p.Phe1872Ser) n.6869T>C n.444+5985A>G c.6578T>C (p.Phe2193Ser) n.7067T>C | |
2 | g.214953932A>T | CA350446125 | ABCA12,SNHG31 | c.6569T>A (p.Phe2190Tyr) c.5615T>A (p.Phe1872Tyr) n.6869T>A n.444+5985A>T c.6578T>A (p.Phe2193Tyr) n.7067T>A | |
2 | g.214953933A= | CA1327150077 | ABCA12,SNHG31 | c.6568T= (p.Phe2190=) c.5614T= (p.Phe1872=) n.6868T= n.444+5986A= c.6577T= (p.Phe2193=) n.7066T= | |
2 | g.214953933A>C | CA350446126 | ABCA12,SNHG31 | c.6568T>G (p.Phe2190Val) c.5614T>G (p.Phe1872Val) n.6868T>G n.444+5986A>C c.6577T>G (p.Phe2193Val) n.7066T>G | |
2 | g.214953933A>G | CA350446127 | ABCA12,SNHG31 | c.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 |
2 | g.214953933A>T | CA350446128 | ABCA12,SNHG31 | c.6568T>A (p.Phe2190Ile) c.5614T>A (p.Phe1872Ile) n.6868T>A n.444+5986A>T c.6577T>A (p.Phe2193Ile) n.7066T>A | |
2 | g.214953934del | CA2662976208 | ABCA12,SNHG31 | c.6567del (p.Met2189IlefsTer18) c.5613del (p.Met1871IlefsTer18) n.6867del n.444+5987del c.6576del (p.Met2192IlefsTer18) n.7065del | gnomAD v4 |
2 | g.214953934C>A | CA2090879 | ABCA12,SNHG31 | c.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 |
2 | g.214953934C= | CA1327150078 | ABCA12,SNHG31 | c.6567G= (p.Met2189=) c.5613G= (p.Met1871=) n.6867G= n.444+5987C= c.6576G= (p.Met2192=) n.7065G= | |
2 | g.214953934C>G | CA350446129 | ABCA12,SNHG31 | c.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 |
2 | g.214953934C>T | CA350446130 | ABCA12,SNHG31 | c.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 |
2 | g.214953935A= | CA1327150079 | ABCA12,SNHG31 | c.6566T= (p.Met2189=) c.5612T= (p.Met1871=) n.6866T= n.444+5988A= c.6575T= (p.Met2192=) n.7064T= | |
2 | g.214953935A>C | CA350446131 | ABCA12,SNHG31 | c.6566T>G (p.Met2189Arg) c.5612T>G (p.Met1871Arg) n.6866T>G n.444+5988A>C c.6575T>G (p.Met2192Arg) n.7064T>G | |
2 | g.214953935A>G | CA64797576 | ABCA12,SNHG31 | c.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 |
2 | g.214953935A>T | CA350446132 | ABCA12,SNHG31 | c.6566T>A (p.Met2189Lys) c.5612T>A (p.Met1871Lys) n.6866T>A n.444+5988A>T c.6575T>A (p.Met2192Lys) n.7064T>A | |
2 | g.214953936T>A | CA350446133 | ABCA12,SNHG31 | c.6565A>T (p.Met2189Leu) c.5611A>T (p.Met1871Leu) n.6865A>T n.444+5989T>A c.6574A>T (p.Met2192Leu) n.7063A>T | |
2 | g.214953936T>C | CA350446134 | ABCA12,SNHG31 | c.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 |
2 | g.214953936T>G | CA350446135 | ABCA12,SNHG31 | c.6565A>C (p.Met2189Leu) c.5611A>C (p.Met1871Leu) n.6865A>C n.444+5989T>G c.6574A>C (p.Met2192Leu) n.7063A>C | |
2 | g.214953937T>A | CA431388058 | ABCA12,SNHG31 | c.6564A>T (p.Ala2188=) c.5610A>T (p.Ala1870=) n.6864A>T n.444+5990T>A c.6573A>T (p.Ala2191=) n.7062A>T | |
2 | g.214953937T>C | CA431388059 | ABCA12,SNHG31 | c.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 |
2 | g.214953937T>G | CA2090880 | ABCA12,SNHG31 | c.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 |
2 | g.214953937T= | CA1327150080 | ABCA12,SNHG31 | c.6564A= (p.Ala2188=) c.5610A= (p.Ala1870=) n.6864A= n.444+5990T= c.6573A= (p.Ala2191=) n.7062A= | |
2 | g.214953938G>A | CA350446136 | ABCA12,SNHG31 | c.6563C>T (p.Ala2188Val) c.5609C>T (p.Ala1870Val) n.6863C>T n.444+5991G>A c.6572C>T (p.Ala2191Val) n.7061C>T | |
2 | g.214953938G>C | CA350446137 | ABCA12,SNHG31 | c.6563C>G (p.Ala2188Gly) c.5609C>G (p.Ala1870Gly) n.6863C>G n.444+5991G>C c.6572C>G (p.Ala2191Gly) n.7061C>G | |
2 | g.214953938G= | CA1327150081 | ABCA12,SNHG31 | c.6563C= (p.Ala2188=) c.5609C= (p.Ala1870=) n.6863C= n.444+5991G= c.6572C= (p.Ala2191=) n.7061C= | |
2 | g.214953938G>T | CA350446138 | ABCA12,SNHG31 | c.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 |
2 | g.214953939C>A | CA350446139 | ABCA12,SNHG31 | c.6562G>T (p.Ala2188Ser) c.5608G>T (p.Ala1870Ser) n.6862G>T n.444+5992C>A c.6571G>T (p.Ala2191Ser) n.7060G>T | |
2 | g.214953939C>G | CA350446140 | ABCA12,SNHG31 | c.6562G>C (p.Ala2188Pro) c.5608G>C (p.Ala1870Pro) n.6862G>C n.444+5992C>G c.6571G>C (p.Ala2191Pro) n.7060G>C | |
2 | g.214953939C>T | CA350446141 | ABCA12,SNHG31 | c.6562G>A (p.Ala2188Thr) c.5608G>A (p.Ala1870Thr) n.6862G>A n.444+5992C>T c.6571G>A (p.Ala2191Thr) n.7060G>A | |
2 | g.214953940A>C | CA431388061 | ABCA12,SNHG31 | c.6561T>G (p.Gly2187=) c.5607T>G (p.Gly1869=) n.6861T>G n.444+5993A>C c.6570T>G (p.Gly2190=) n.7059T>G | |
2 | g.214953940A>G | CA431388063 | ABCA12,SNHG31 | c.6561T>C (p.Gly2187=) c.5607T>C (p.Gly1869=) n.6861T>C n.444+5993A>G c.6570T>C (p.Gly2190=) n.7059T>C | |
2 | g.214953940A>T | CA431388064 | ABCA12,SNHG31 | c.6561T>A (p.Gly2187=) c.5607T>A (p.Gly1869=) n.6861T>A n.444+5993A>T c.6570T>A (p.Gly2190=) n.7059T>A | |
2 | g.214953941C>A | CA350446142 | ABCA12,SNHG31 | c.6560G>T (p.Gly2187Val) c.5606G>T (p.Gly1869Val) n.6860G>T n.444+5994C>A c.6569G>T (p.Gly2190Val) n.7058G>T | |
2 | g.214953941C>G | CA350446143 | ABCA12,SNHG31 | c.6560G>C (p.Gly2187Ala) c.5606G>C (p.Gly1869Ala) n.6860G>C n.444+5994C>G c.6569G>C (p.Gly2190Ala) n.7058G>C | |
2 | g.214953941C>T | CA350446144 | ABCA12,SNHG31 | c.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 |
2 | g.214953942C>A | CA350446145 | ABCA12,SNHG31 | c.6559G>T (p.Gly2187Cys) c.5605G>T (p.Gly1869Cys) n.6859G>T n.444+5995C>A c.6568G>T (p.Gly2190Cys) n.7057G>T | |
2 | g.214953942C= | CA1327150082 | ABCA12,SNHG31 | c.6559G= (p.Gly2187=) c.5605G= (p.Gly1869=) n.6859G= n.444+5995C= c.6568G= (p.Gly2190=) n.7057G= | |
2 | g.214953942C>G | CA350446147 | ABCA12,SNHG31 | c.6559G>C (p.Gly2187Arg) c.5605G>C (p.Gly1869Arg) n.6859G>C n.444+5995C>G c.6568G>C (p.Gly2190Arg) n.7057G>C | |
2 | g.214953942C>T | CA350446146 | ABCA12,SNHG31 | c.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 |
2 | g.214953943T>A | CA431388070 | ABCA12,SNHG31 | c.6558A>T (p.Leu2186=) c.5604A>T (p.Leu1868=) n.6858A>T n.444+5996T>A c.6567A>T (p.Leu2189=) n.7056A>T | |
2 | g.214953943T>C | CA431388075 | ABCA12,SNHG31 | c.6558A>G (p.Leu2186=) c.5604A>G (p.Leu1868=) n.6858A>G n.444+5996T>C c.6567A>G (p.Leu2189=) n.7056A>G | |
2 | g.214953943T>G | CA431388076 | ABCA12,SNHG31 | c.6558A>C (p.Leu2186=) c.5604A>C (p.Leu1868=) n.6858A>C n.444+5996T>G c.6567A>C (p.Leu2189=) n.7056A>C | |
2 | g.214953944A>C | CA350446148 | ABCA12,SNHG31 | c.6557T>G (p.Leu2186Arg) c.5603T>G (p.Leu1868Arg) n.6857T>G n.444+5997A>C c.6566T>G (p.Leu2189Arg) n.7055T>G | |
2 | g.214953944A>G | CA350446149 | ABCA12,SNHG31 | c.6557T>C (p.Leu2186Pro) c.5603T>C (p.Leu1868Pro) n.6857T>C n.444+5997A>G c.6566T>C (p.Leu2189Pro) n.7055T>C | |
2 | g.214953944A>T | CA350446150 | ABCA12,SNHG31 | c.6557T>A (p.Leu2186Gln) c.5603T>A (p.Leu1868Gln) n.6857T>A n.444+5997A>T c.6566T>A (p.Leu2189Gln) n.7055T>A | |
2 | g.214953945G>A | CA431388077 | ABCA12,SNHG31 | c.6556C>T (p.Leu2186=) c.5602C>T (p.Leu1868=) n.6856C>T n.444+5998G>A c.6565C>T (p.Leu2189=) n.7054C>T | |
2 | g.214953945G>C | CA350446151 | ABCA12,SNHG31 | c.6556C>G (p.Leu2186Val) c.5602C>G (p.Leu1868Val) n.6856C>G n.444+5998G>C c.6565C>G (p.Leu2189Val) n.7054C>G | |
2 | g.214953945G>T | CA350446152 | ABCA12,SNHG31 | c.6556C>A (p.Leu2186Ile) c.5602C>A (p.Leu1868Ile) n.6856C>A n.444+5998G>T c.6565C>A (p.Leu2189Ile) n.7054C>A | |
2 | g.214953946T>A | CA350446153 | ABCA12,SNHG31 | c.6555A>T (p.Lys2185Asn) c.5601A>T (p.Lys1867Asn) n.6855A>T n.444+5999T>A c.6564A>T (p.Lys2188Asn) n.7053A>T | |
2 | g.214953946T>C | CA431388079 | ABCA12,SNHG31 | c.6555A>G (p.Lys2185=) c.5601A>G (p.Lys1867=) n.6855A>G n.444+5999T>C c.6564A>G (p.Lys2188=) n.7053A>G | |
2 | g.214953946T>G | CA350446154 | ABCA12,SNHG31 | c.6555A>C (p.Lys2185Asn) c.5601A>C (p.Lys1867Asn) n.6855A>C n.444+5999T>G c.6564A>C (p.Lys2188Asn) n.7053A>C | |
2 | g.214953947T>A | CA350446155 | ABCA12,SNHG31 | c.6554A>T (p.Lys2185Ile) c.5600A>T (p.Lys1867Ile) n.6854A>T n.444+6000T>A c.6563A>T (p.Lys2188Ile) n.7052A>T | |
2 | g.214953947T>C | CA350446156 | ABCA12,SNHG31 | c.6554A>G (p.Lys2185Arg) c.5600A>G (p.Lys1867Arg) n.6854A>G n.444+6000T>C c.6563A>G (p.Lys2188Arg) n.7052A>G | |
2 | g.214953947T>G | CA350446157 | ABCA12,SNHG31 | c.6554A>C (p.Lys2185Thr) c.5600A>C (p.Lys1867Thr) n.6854A>C n.444+6000T>G c.6563A>C (p.Lys2188Thr) n.7052A>C | |
2 | g.214953948T>A | CA350446159 | ABCA12,SNHG31 | c.6553A>T (p.Lys2185Ter) c.5599A>T (p.Lys1867Ter) n.6853A>T n.444+6001T>A c.6562A>T (p.Lys2188Ter) n.7051A>T | |
2 | g.214953948T>C | CA350446160 | ABCA12,SNHG31 | c.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 |
2 | g.214953948T>G | CA350446158 | ABCA12,SNHG31 | c.6553A>C (p.Lys2185Gln) c.5599A>C (p.Lys1867Gln) n.6853A>C n.444+6001T>G c.6562A>C (p.Lys2188Gln) n.7051A>C | |
2 | g.214953949A>C | CA350446162 | ABCA12,SNHG31 | c.6552T>G (p.Asn2184Lys) c.5598T>G (p.Asn1866Lys) n.6852T>G n.444+6002A>C c.6561T>G (p.Asn2187Lys) n.7050T>G | |
2 | g.214953949A>G | CA431388083 | ABCA12,SNHG31 | c.6552T>C (p.Asn2184=) c.5598T>C (p.Asn1866=) n.6852T>C n.444+6002A>G c.6561T>C (p.Asn2187=) n.7050T>C | |
2 | g.214953949A>T | CA350446161 | ABCA12,SNHG31 | c.6552T>A (p.Asn2184Lys) c.5598T>A (p.Asn1866Lys) n.6852T>A n.444+6002A>T c.6561T>A (p.Asn2187Lys) n.7050T>A | |
2 | g.214953950T>A | CA350446163 | ABCA12,SNHG31 | c.6551A>T (p.Asn2184Ile) c.5597A>T (p.Asn1866Ile) n.6851A>T n.444+6003T>A c.6560A>T (p.Asn2187Ile) n.7049A>T | |
2 | g.214953950T>C | CA350446164 | ABCA12,SNHG31 | c.6551A>G (p.Asn2184Ser) c.5597A>G (p.Asn1866Ser) n.6851A>G n.444+6003T>C c.6560A>G (p.Asn2187Ser) n.7049A>G | |
2 | g.214953950T>G | CA350446165 | ABCA12,SNHG31 | c.6551A>C (p.Asn2184Thr) c.5597A>C (p.Asn1866Thr) n.6851A>C n.444+6003T>G c.6560A>C (p.Asn2187Thr) n.7049A>C | |
2 | g.214953951T>A | CA350446166 | ABCA12,SNHG31 | c.6550A>T (p.Asn2184Tyr) c.5596A>T (p.Asn1866Tyr) n.6850A>T n.444+6004T>A c.6559A>T (p.Asn2187Tyr) n.7048A>T | |
2 | g.214953951T>C | CA350446167 | ABCA12,SNHG31 | c.6550A>G (p.Asn2184Asp) c.5596A>G (p.Asn1866Asp) n.6850A>G n.444+6004T>C c.6559A>G (p.Asn2187Asp) n.7048A>G | |
2 | g.214953951T>G | CA350446168 | ABCA12,SNHG31 | c.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 |
2 | g.214953951T= | CA1327150083 | ABCA12,SNHG31 | c.6550A= (p.Asn2184=) c.5596A= (p.Asn1866=) n.6850A= n.444+6004T= c.6559A= (p.Asn2187=) n.7048A= | |
2 | g.214953952C>A | CA350446169 | ABCA12,SNHG31 | c.6549G>T (p.Met2183Ile) c.5595G>T (p.Met1865Ile) n.6849G>T n.444+6005C>A c.6558G>T (p.Met2186Ile) n.7047G>T | |
2 | g.214953952C>G | CA350446170 | ABCA12,SNHG31 | c.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 |
2 | g.214953952C>T | CA350446171 | ABCA12,SNHG31 | c.6549G>A (p.Met2183Ile) c.5595G>A (p.Met1865Ile) n.6849G>A n.444+6005C>T c.6558G>A (p.Met2186Ile) n.7047G>A | |
2 | g.214953953A>C | CA350446172 | ABCA12,SNHG31 | c.6548T>G (p.Met2183Arg) c.5594T>G (p.Met1865Arg) n.6848T>G n.444+6006A>C c.6557T>G (p.Met2186Arg) n.7046T>G | |
2 | g.214953953A>G | CA350446173 | ABCA12,SNHG31 | c.6548T>C (p.Met2183Thr) c.5594T>C (p.Met1865Thr) n.6848T>C n.444+6006A>G c.6557T>C (p.Met2186Thr) n.7046T>C | |
2 | g.214953953A>T | CA350446174 | ABCA12,SNHG31 | c.6548T>A (p.Met2183Lys) c.5594T>A (p.Met1865Lys) n.6848T>A n.444+6006A>T c.6557T>A (p.Met2186Lys) n.7046T>A | |
2 | g.214953954T>A | CA350446177 | ABCA12,SNHG31 | c.6547A>T (p.Met2183Leu) c.5593A>T (p.Met1865Leu) n.6847A>T n.444+6007T>A c.6556A>T (p.Met2186Leu) n.7045A>T | |
2 | g.214953954T>C | CA350446175 | ABCA12,SNHG31 | c.6547A>G (p.Met2183Val) c.5593A>G (p.Met1865Val) n.6847A>G n.444+6007T>C c.6556A>G (p.Met2186Val) n.7045A>G | |
2 | g.214953954T>G | CA350446176 | ABCA12,SNHG31 | c.6547A>C (p.Met2183Leu) c.5593A>C (p.Met1865Leu) n.6847A>C n.444+6007T>G c.6556A>C (p.Met2186Leu) n.7045A>C | |
2 | g.214953955C>A | CA350446178 | ABCA12,SNHG31 | c.6546G>T (p.Glu2182Asp) c.5592G>T (p.Glu1864Asp) n.6846G>T n.444+6008C>A c.6555G>T (p.Glu2185Asp) n.7044G>T | |
2 | g.214953955C= | CA1327150084 | ABCA12,SNHG31 | c.6546G= (p.Glu2182=) c.5592G= (p.Glu1864=) n.6846G= n.444+6008C= c.6555G= (p.Glu2185=) n.7044G= | |
2 | g.214953955C>G | CA2090881 | ABCA12,SNHG31 | c.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 |
2 | g.214953955C>T | CA431388091 | ABCA12,SNHG31 | c.6546G>A (p.Glu2182=) c.5592G>A (p.Glu1864=) n.6846G>A n.444+6008C>T c.6555G>A (p.Glu2185=) n.7044G>A | |
2 | g.214953956T>A | CA350446179 | ABCA12,SNHG31 | c.6545A>T (p.Glu2182Val) c.5591A>T (p.Glu1864Val) n.6845A>T n.444+6009T>A c.6554A>T (p.Glu2185Val) n.7043A>T | |
2 | g.214953956T>C | CA350446180 | ABCA12,SNHG31 | c.6545A>G (p.Glu2182Gly) c.5591A>G (p.Glu1864Gly) n.6845A>G n.444+6009T>C c.6554A>G (p.Glu2185Gly) n.7043A>G | |
2 | g.214953956T>G | CA350446181 | ABCA12,SNHG31 | c.6545A>C (p.Glu2182Ala) c.5591A>C (p.Glu1864Ala) n.6845A>C n.444+6009T>G c.6554A>C (p.Glu2185Ala) n.7043A>C | |
2 | g.214953957C>A | CA350446182 | ABCA12,SNHG31 | c.6544G>T (p.Glu2182Ter) c.5590G>T (p.Glu1864Ter) n.6844G>T n.444+6010C>A c.6553G>T (p.Glu2185Ter) n.7042G>T | |
2 | g.214953957C= | CA1327150085 | ABCA12,SNHG31 | c.6544G= (p.Glu2182=) c.5590G= (p.Glu1864=) n.6844G= n.444+6010C= c.6553G= (p.Glu2185=) n.7042G= | |
2 | g.214953957C>G | CA350446183 | ABCA12,SNHG31 | c.6544G>C (p.Glu2182Gln) c.5590G>C (p.Glu1864Gln) n.6844G>C n.444+6010C>G c.6553G>C (p.Glu2185Gln) n.7042G>C | |
2 | g.214953957C>T | CA350446184 | ABCA12,SNHG31 | c.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 |
2 | g.214953958A= | CA1327150086 | ABCA12,SNHG31 | c.6543T= (p.Phe2181=) c.5589T= (p.Phe1863=) n.6843T= n.444+6011A= c.6552T= (p.Phe2184=) n.7041T= | |
2 | g.214953958A>C | CA350446185 | ABCA12,SNHG31 | c.6543T>G (p.Phe2181Leu) c.5589T>G (p.Phe1863Leu) n.6843T>G n.444+6011A>C c.6552T>G (p.Phe2184Leu) n.7041T>G | |
2 | g.214953958A>G | CA2090882 | ABCA12,SNHG31 | c.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 |
2 | g.214953958A>T | CA350446186 | ABCA12,SNHG31 | c.6543T>A (p.Phe2181Leu) c.5589T>A (p.Phe1863Leu) n.6843T>A n.444+6011A>T c.6552T>A (p.Phe2184Leu) n.7041T>A | |
2 | g.214953959A>C | CA350446189 | ABCA12,SNHG31 | c.6542T>G (p.Phe2181Cys) c.5588T>G (p.Phe1863Cys) n.6842T>G n.444+6012A>C c.6551T>G (p.Phe2184Cys) n.7040T>G | |
2 | g.214953959A>G | CA350446188 | ABCA12,SNHG31 | c.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 |
2 | g.214953959A>T | CA350446187 | ABCA12,SNHG31 | c.6542T>A (p.Phe2181Tyr) c.5588T>A (p.Phe1863Tyr) n.6842T>A n.444+6012A>T c.6551T>A (p.Phe2184Tyr) n.7040T>A | |
2 | g.214953960A>C | CA350446190 | ABCA12,SNHG31 | c.6541T>G (p.Phe2181Val) c.5587T>G (p.Phe1863Val) n.6841T>G n.444+6013A>C c.6550T>G (p.Phe2184Val) n.7039T>G | |
2 | g.214953960A>G | CA350446191 | ABCA12,SNHG31 | c.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 |
2 | g.214953960A>T | CA350446192 | ABCA12,SNHG31 | c.6541T>A (p.Phe2181Ile) c.5587T>A (p.Phe1863Ile) n.6841T>A n.444+6013A>T c.6550T>A (p.Phe2184Ile) n.7039T>A | |
2 | g.214953961G>A | CA431388097 | ABCA12,SNHG31 | c.6540C>T (p.Thr2180=) c.5586C>T (p.Thr1862=) n.6840C>T n.444+6014G>A c.6549C>T (p.Thr2183=) n.7038C>T | |
2 | g.214953961G>C | CA431388099 | ABCA12,SNHG31 | c.6540C>G (p.Thr2180=) c.5586C>G (p.Thr1862=) n.6840C>G n.444+6014G>C c.6549C>G (p.Thr2183=) n.7038C>G | |
2 | g.214953961G>T | CA431388100 | ABCA12,SNHG31 | c.6540C>A (p.Thr2180=) c.5586C>A (p.Thr1862=) n.6840C>A n.444+6014G>T c.6549C>A (p.Thr2183=) n.7038C>A | |
2 | g.214953962G>A | CA350446193 | ABCA12,SNHG31 | c.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 |
2 | g.214953962G>C | CA350446194 | ABCA12,SNHG31 | c.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 |
2 | g.214953962G= | CA1327150087 | ABCA12,SNHG31 | c.6539C= (p.Thr2180=) c.5585C= (p.Thr1862=) n.6839C= n.444+6015G= c.6548C= (p.Thr2183=) n.7037C= | |
2 | g.214953962G>T | CA350446195 | ABCA12,SNHG31 | c.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 |
2 | g.214953963T>A | CA350446198 | ABCA12,SNHG31 | c.6538A>T (p.Thr2180Ser) c.5584A>T (p.Thr1862Ser) n.6838A>T n.444+6016T>A c.6547A>T (p.Thr2183Ser) n.7036A>T | |
2 | g.214953963T>C | CA350446196 | ABCA12,SNHG31 | c.6538A>G (p.Thr2180Ala) c.5584A>G (p.Thr1862Ala) n.6838A>G n.444+6016T>C c.6547A>G (p.Thr2183Ala) n.7036A>G | |
2 | g.214953963T>G | CA350446197 | ABCA12,SNHG31 | c.6538A>C (p.Thr2180Pro) c.5584A>C (p.Thr1862Pro) n.6838A>C n.444+6016T>G c.6547A>C (p.Thr2183Pro) n.7036A>C | |
2 | g.214953964T>A | CA350446199 | ABCA12,SNHG31 | c.6537A>T (p.Glu2179Asp) c.5583A>T (p.Glu1861Asp) n.6837A>T n.444+6017T>A c.6546A>T (p.Glu2182Asp) n.7035A>T | |
2 | g.214953964T>C | CA431388104 | ABCA12,SNHG31 | c.6537A>G (p.Glu2179=) c.5583A>G (p.Glu1861=) n.6837A>G n.444+6017T>C c.6546A>G (p.Glu2182=) n.7035A>G | |
2 | g.214953964T>G | CA350446200 | ABCA12,SNHG31 | c.6537A>C (p.Glu2179Asp) c.5583A>C (p.Glu1861Asp) n.6837A>C n.444+6017T>G c.6546A>C (p.Glu2182Asp) n.7035A>C | |
2 | g.214953965T>A | CA350446201 | ABCA12,SNHG31 | c.6536A>T (p.Glu2179Val) c.5582A>T (p.Glu1861Val) n.6836A>T n.444+6018T>A c.6545A>T (p.Glu2182Val) n.7034A>T | |
2 | g.214953965T>C | CA350446202 | ABCA12,SNHG31 | c.6536A>G (p.Glu2179Gly) c.5582A>G (p.Glu1861Gly) n.6836A>G n.444+6018T>C c.6545A>G (p.Glu2182Gly) n.7034A>G | |
2 | g.214953965T>G | CA350446203 | ABCA12,SNHG31 | c.6536A>C (p.Glu2179Ala) c.5582A>C (p.Glu1861Ala) n.6836A>C n.444+6018T>G c.6545A>C (p.Glu2182Ala) n.7034A>C | |
2 | g.214953966C>A | CA350446204 | ABCA12,SNHG31 | c.6535G>T (p.Glu2179Ter) c.5581G>T (p.Glu1861Ter) n.6835G>T n.444+6019C>A c.6544G>T (p.Glu2182Ter) n.7033G>T | |
2 | g.214953966C>G | CA350446206 | ABCA12,SNHG31 | c.6535G>C (p.Glu2179Gln) c.5581G>C (p.Glu1861Gln) n.6835G>C n.444+6019C>G c.6544G>C (p.Glu2182Gln) n.7033G>C | |
2 | g.214953966C>T | CA350446205 | ABCA12,SNHG31 | c.6535G>A (p.Glu2179Lys) c.5581G>A (p.Glu1861Lys) n.6835G>A n.444+6019C>T c.6544G>A (p.Glu2182Lys) n.7033G>A | |
2 | g.214953967A= | CA1327150088 | ABCA12,SNHG31 | c.6534T= (p.Asn2178=) c.5580T= (p.Asn1860=) n.6834T= n.444+6020A= c.6543T= (p.Asn2181=) n.7032T= | |
2 | g.214953967A>C | CA350446207 | ABCA12,SNHG31 | c.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 |
2 | g.214953967A>G | CA2090883 | ABCA12,SNHG31 | c.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 |
2 | g.214953967A>T | CA350446208 | ABCA12,SNHG31 | c.6534T>A (p.Asn2178Lys) c.5580T>A (p.Asn1860Lys) n.6834T>A n.444+6020A>T c.6543T>A (p.Asn2181Lys) n.7032T>A | |
2 | g.214953968T>A | CA350446209 | ABCA12,SNHG31 | c.6533A>T (p.Asn2178Ile) c.5579A>T (p.Asn1860Ile) n.6833A>T n.444+6021T>A c.6542A>T (p.Asn2181Ile) n.7031A>T | |
2 | g.214953968T>C | CA350446210 | ABCA12,SNHG31 | c.6533A>G (p.Asn2178Ser) c.5579A>G (p.Asn1860Ser) n.6833A>G n.444+6021T>C c.6542A>G (p.Asn2181Ser) n.7031A>G | |
2 | g.214953968T>G | CA350446211 | ABCA12,SNHG31 | c.6533A>C (p.Asn2178Thr) c.5579A>C (p.Asn1860Thr) n.6833A>C n.444+6021T>G c.6542A>C (p.Asn2181Thr) n.7031A>C | |
2 | g.214953969T>A | CA350446212 | ABCA12,SNHG31 | c.6532A>T (p.Asn2178Tyr) c.5578A>T (p.Asn1860Tyr) n.6832A>T n.444+6022T>A c.6541A>T (p.Asn2181Tyr) n.7030A>T | |
2 | g.214953969T>C | CA350446213 | ABCA12,SNHG31 | c.6532A>G (p.Asn2178Asp) c.5578A>G (p.Asn1860Asp) n.6832A>G n.444+6022T>C c.6541A>G (p.Asn2181Asp) n.7030A>G | |
2 | g.214953969T>G | CA350446214 | ABCA12,SNHG31 | c.6532A>C (p.Asn2178His) c.5578A>C (p.Asn1860His) n.6832A>C n.444+6022T>G c.6541A>C (p.Asn2181His) n.7030A>C | |
2 | g.214953970T>A | CA431388109 | ABCA12,SNHG31 | c.6531A>T (p.Pro2177=) c.5577A>T (p.Pro1859=) n.6831A>T n.444+6023T>A c.6540A>T (p.Pro2180=) n.7029A>T | |
2 | g.214953970T>C | CA431388110 | ABCA12,SNHG31 | c.6531A>G (p.Pro2177=) c.5577A>G (p.Pro1859=) n.6831A>G n.444+6023T>C c.6540A>G (p.Pro2180=) n.7029A>G | |
2 | g.214953970T>G | CA431388111 | ABCA12,SNHG31 | c.6531A>C (p.Pro2177=) c.5577A>C (p.Pro1859=) n.6831A>C n.444+6023T>G c.6540A>C (p.Pro2180=) n.7029A>C | |
2 | g.214953971G>A | CA350446215 | ABCA12,SNHG31 | c.6530C>T (p.Pro2177Leu) c.5576C>T (p.Pro1859Leu) n.6830C>T n.444+6024G>A c.6539C>T (p.Pro2180Leu) n.7028C>T | |
2 | g.214953971G>C | CA350446216 | ABCA12,SNHG31 | c.6530C>G (p.Pro2177Arg) c.5576C>G (p.Pro1859Arg) n.6830C>G n.444+6024G>C c.6539C>G (p.Pro2180Arg) n.7028C>G | |
2 | g.214953971G= | CA1327150089 | ABCA12,SNHG31 | c.6530C= (p.Pro2177=) c.5576C= (p.Pro1859=) n.6830C= n.444+6024G= c.6539C= (p.Pro2180=) n.7028C= | |
2 | g.214953971G>T | CA350446217 | ABCA12,SNHG31 | c.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 |
2 | g.214953972G>A | CA350446219 | ABCA12,SNHG31 | c.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 |
2 | g.214953972G>C | CA350446220 | ABCA12,SNHG31 | c.6529C>G (p.Pro2177Ala) c.5575C>G (p.Pro1859Ala) n.6829C>G n.444+6025G>C c.6538C>G (p.Pro2180Ala) n.7027C>G | |
2 | g.214953972G= | CA1327150090 | ABCA12,SNHG31 | c.6529C= (p.Pro2177=) c.5575C= (p.Pro1859=) n.6829C= n.444+6025G= c.6538C= (p.Pro2180=) n.7027C= | |
2 | g.214953972G>T | CA350446218 | ABCA12,SNHG31 | c.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 |
2 | g.214953973G>A | CA431388115 | ABCA12,SNHG31 | c.6528C>T (p.Tyr2176=) c.5574C>T (p.Tyr1858=) n.6828C>T n.444+6026G>A c.6537C>T (p.Tyr2179=) n.7026C>T | |
2 | g.214953973G>C | CA350446222 | ABCA12,SNHG31 | c.6528C>G (p.Tyr2176Ter) c.5574C>G (p.Tyr1858Ter) n.6828C>G n.444+6026G>C c.6537C>G (p.Tyr2179Ter) n.7026C>G | |
2 | g.214953973G>T | CA350446221 | ABCA12,SNHG31 | c.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 |
2 | g.214953974T>A | CA350446224 | ABCA12,SNHG31 | c.6527A>T (p.Tyr2176Phe) c.5573A>T (p.Tyr1858Phe) n.6827A>T n.444+6027T>A c.6536A>T (p.Tyr2179Phe) n.7025A>T | |
2 | g.214953974T>C | CA350446223 | ABCA12,SNHG31 | c.6527A>G (p.Tyr2176Cys) c.5573A>G (p.Tyr1858Cys) n.6827A>G n.444+6027T>C c.6536A>G (p.Tyr2179Cys) n.7025A>G | |
2 | g.214953974T>G | CA350446225 | ABCA12,SNHG31 | c.6527A>C (p.Tyr2176Ser) c.5573A>C (p.Tyr1858Ser) n.6827A>C n.444+6027T>G c.6536A>C (p.Tyr2179Ser) n.7025A>C | |
2 | g.214953975A>C | CA350446226 | ABCA12,SNHG31 | c.6526T>G (p.Tyr2176Asp) c.5572T>G (p.Tyr1858Asp) n.6826T>G n.444+6028A>C c.6535T>G (p.Tyr2179Asp) n.7024T>G | |
2 | g.214953975A>G | CA350446227 | ABCA12,SNHG31 | c.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 |
2 | g.214953975A>T | CA350446228 | ABCA12,SNHG31 | c.6526T>A (p.Tyr2176Asn) c.5572T>A (p.Tyr1858Asn) n.6826T>A n.444+6028A>T c.6535T>A (p.Tyr2179Asn) n.7024T>A | |
2 | g.214953976T>A | CA350446229 | ABCA12,SNHG31 | c.6525A>T (p.Glu2175Asp) c.5571A>T (p.Glu1857Asp) n.6825A>T n.444+6029T>A c.6534A>T (p.Glu2178Asp) n.7023A>T | |
2 | g.214953976T>C | CA2090884 | ABCA12,SNHG31 | c.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 |
2 | g.214953976T>G | CA350446230 | ABCA12,SNHG31 | c.6525A>C (p.Glu2175Asp) c.5571A>C (p.Glu1857Asp) n.6825A>C n.444+6029T>G c.6534A>C (p.Glu2178Asp) n.7023A>C | |
2 | g.214953976T= | CA1327150091 | ABCA12,SNHG31 | c.6525A= (p.Glu2175=) c.5571A= (p.Glu1857=) n.6825A= n.444+6029T= c.6534A= (p.Glu2178=) n.7023A= | |
2 | g.214953977T>A | CA350446231 | ABCA12,SNHG31 | c.6524A>T (p.Glu2175Val) c.5570A>T (p.Glu1857Val) n.6824A>T n.444+6030T>A c.6533A>T (p.Glu2178Val) n.7022A>T | |
2 | g.214953977T>C | CA350446232 | ABCA12,SNHG31 | c.6524A>G (p.Glu2175Gly) c.5570A>G (p.Glu1857Gly) n.6824A>G n.444+6030T>C c.6533A>G (p.Glu2178Gly) n.7022A>G | |
2 | g.214953977T>G | CA350446233 | ABCA12,SNHG31 | c.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 |
2 | g.214953978C>A | CA350446234 | ABCA12,SNHG31 | c.6523G>T (p.Glu2175Ter) c.5569G>T (p.Glu1857Ter) n.6823G>T n.444+6031C>A c.6532G>T (p.Glu2178Ter) n.7021G>T | |
2 | g.214953978C>G | CA350446235 | ABCA12,SNHG31 | c.6523G>C (p.Glu2175Gln) c.5569G>C (p.Glu1857Gln) n.6823G>C n.444+6031C>G c.6532G>C (p.Glu2178Gln) n.7021G>C | |
2 | g.214953978C>T | CA350446236 | ABCA12,SNHG31 | c.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 |
2 | g.214953979C>A | CA431388124 | ABCA12,SNHG31 | c.6522G>T (p.Val2174=) c.5568G>T (p.Val1856=) n.6822G>T n.444+6032C>A c.6531G>T (p.Val2177=) n.7020G>T | |
2 | g.214953979C= | CA1327150092 | ABCA12,SNHG31 | c.6522G= (p.Val2174=) c.5568G= (p.Val1856=) n.6822G= n.444+6032C= c.6531G= (p.Val2177=) n.7020G= | |
2 | g.214953979C>G | CA431388125 | ABCA12,SNHG31 | c.6522G>C (p.Val2174=) c.5568G>C (p.Val1856=) n.6822G>C n.444+6032C>G c.6531G>C (p.Val2177=) n.7020G>C | |
2 | g.214953979C>T | CA431388126 | ABCA12,SNHG31 | c.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 |
2 | g.214953980A= | CA1327150093 | ABCA12,SNHG31 | c.6521T= (p.Val2174=) c.5567T= (p.Val1856=) n.6821T= n.444+6033A= c.6530T= (p.Val2177=) n.7019T= | |
2 | g.214953980A>C | CA350446238 | ABCA12,SNHG31 | c.6521T>G (p.Val2174Gly) c.5567T>G (p.Val1856Gly) n.6821T>G n.444+6033A>C c.6530T>G (p.Val2177Gly) n.7019T>G | |
2 | g.214953980A>G | CA2090885 | ABCA12,SNHG31 | c.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 |
2 | g.214953980A>T | CA350446237 | ABCA12,SNHG31 | c.6521T>A (p.Val2174Glu) c.5567T>A (p.Val1856Glu) n.6821T>A n.444+6033A>T c.6530T>A (p.Val2177Glu) n.7019T>A | |
2 | g.214953981C>A | CA350446239 | ABCA12,SNHG31 | c.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 |
2 | g.214953981C= | CA1327150094 | ABCA12,SNHG31 | c.6520G= (p.Val2174=) c.5566G= (p.Val1856=) n.6820G= n.444+6034C= c.6529G= (p.Val2177=) n.7018G= | |
2 | g.214953981C>G | CA2090886 | ABCA12,SNHG31 | c.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 |
2 | g.214953981C>T | CA350446240 | ABCA12,SNHG31 | c.6520G>A (p.Val2174Met) c.5566G>A (p.Val1856Met) n.6820G>A n.444+6034C>T c.6529G>A (p.Val2177Met) n.7018G>A | |
2 | g.214953982T>A | CA431388128 | ABCA12,SNHG31 | c.6519A>T (p.Gly2173=) c.5565A>T (p.Gly1855=) n.6819A>T n.444+6035T>A c.6528A>T (p.Gly2176=) n.7017A>T | |
2 | g.214953982T>C | CA431388130 | ABCA12,SNHG31 | c.6519A>G (p.Gly2173=) c.5565A>G (p.Gly1855=) n.6819A>G n.444+6035T>C c.6528A>G (p.Gly2176=) n.7017A>G | |
2 | g.214953982T>G | CA2090887 | ABCA12,SNHG31 | c.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 |
2 | g.214953982T= | CA1327150095 | ABCA12,SNHG31 | c.6519A= (p.Gly2173=) c.5565A= (p.Gly1855=) n.6819A= n.444+6035T= c.6528A= (p.Gly2176=) n.7017A= | |
2 | g.214953983C>A | CA350446241 | ABCA12,SNHG31 | c.6518G>T (p.Gly2173Val) c.5564G>T (p.Gly1855Val) n.6818G>T n.444+6036C>A c.6527G>T (p.Gly2176Val) n.7016G>T | |
2 | g.214953983C>G | CA350446242 | ABCA12,SNHG31 | c.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 |
2 | g.214953983C>T | CA350446243 | ABCA12,SNHG31 | c.6518G>A (p.Gly2173Glu) c.5564G>A (p.Gly1855Glu) n.6818G>A n.444+6036C>T c.6527G>A (p.Gly2176Glu) n.7016G>A | |
2 | g.214953984C>A | CA350446244 | ABCA12,SNHG31 | c.6517G>T (p.Gly2173Ter) c.5563G>T (p.Gly1855Ter) n.6817G>T n.444+6037C>A c.6526G>T (p.Gly2176Ter) n.7015G>T | |
2 | g.214953984C= | CA1327150096 | ABCA12,SNHG31 | c.6517G= (p.Gly2173=) c.5563G= (p.Gly1855=) n.6817G= n.444+6037C= c.6526G= (p.Gly2176=) n.7015G= | |
2 | g.214953984C>G | CA350446245 | ABCA12,SNHG31 | c.6517G>C (p.Gly2173Arg) c.5563G>C (p.Gly1855Arg) n.6817G>C n.444+6037C>G c.6526G>C (p.Gly2176Arg) n.7015G>C | |
2 | g.214953984C>T | CA350446246 | ABCA12,SNHG31 | c.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 |
2 | g.214953985A>C | CA350446247 | ABCA12,SNHG31 | c.6516T>G (p.Tyr2172Ter) c.5562T>G (p.Tyr1854Ter) n.6816T>G n.444+6038A>C c.6525T>G (p.Tyr2175Ter) n.7014T>G | |
2 | g.214953985A>G | CA431388134 | ABCA12,SNHG31 | c.6516T>C (p.Tyr2172=) c.5562T>C (p.Tyr1854=) n.6816T>C n.444+6038A>G c.6525T>C (p.Tyr2175=) n.7014T>C | |
2 | g.214953985A>T | CA350446248 | ABCA12,SNHG31 | c.6516T>A (p.Tyr2172Ter) c.5562T>A (p.Tyr1854Ter) n.6816T>A n.444+6038A>T c.6525T>A (p.Tyr2175Ter) n.7014T>A | |
2 | g.214953986T>A | CA2090888 | ABCA12,SNHG31 | c.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 |
2 | g.214953986T>C | CA350446250 | ABCA12,SNHG31 | c.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 |
2 | g.214953986T>G | CA350446249 | ABCA12,SNHG31 | c.6515A>C (p.Tyr2172Ser) c.5561A>C (p.Tyr1854Ser) n.6815A>C n.444+6039T>G c.6524A>C (p.Tyr2175Ser) n.7013A>C | |
2 | g.214953986T= | CA1327150097 | ABCA12,SNHG31 | c.6515A= (p.Tyr2172=) c.5561A= (p.Tyr1854=) n.6815A= n.444+6039T= c.6524A= (p.Tyr2175=) n.7013A= | |
2 | g.214953987A= | CA1327150098 | ABCA12,SNHG31 | c.6514T= (p.Tyr2172=) c.5560T= (p.Tyr1854=) n.6814T= n.444+6040A= c.6523T= (p.Tyr2175=) n.7012T= | |
2 | g.214953987A>C | CA350446251 | ABCA12,SNHG31 | c.6514T>G (p.Tyr2172Asp) c.5560T>G (p.Tyr1854Asp) n.6814T>G n.444+6040A>C c.6523T>G (p.Tyr2175Asp) n.7012T>G | |
2 | g.214953987A>G | CA2090889 | ABCA12,SNHG31 | c.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 |
2 | g.214953987A>T | CA350446252 | ABCA12,SNHG31 | c.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 |
2 | g.214953988T>A | CA431388137 | ABCA12,SNHG31 | c.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 |
2 | g.214953988T>C | CA431388138 | ABCA12,SNHG31 | c.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 |
2 | g.214953988T>G | CA431388139 | ABCA12,SNHG31 | c.6513A>C (p.Ala2171=) c.5559A>C (p.Ala1853=) n.6813A>C n.444+6041T>G c.6522A>C (p.Ala2174=) n.7011A>C | |
2 | g.214953988T= | CA1327150099 | ABCA12,SNHG31 | c.6513A= (p.Ala2171=) c.5559A= (p.Ala1853=) n.6813A= n.444+6041T= c.6522A= (p.Ala2174=) n.7011A= | |
2 | g.214953989G>A | CA350446253 | ABCA12,SNHG31 | c.6512C>T (p.Ala2171Val) c.5558C>T (p.Ala1853Val) n.6812C>T n.444+6042G>A c.6521C>T (p.Ala2174Val) n.7010C>T | |
2 | g.214953989G>C | CA350446254 | ABCA12,SNHG31 | c.6512C>G (p.Ala2171Gly) c.5558C>G (p.Ala1853Gly) n.6812C>G n.444+6042G>C c.6521C>G (p.Ala2174Gly) n.7010C>G | |
2 | g.214953989G>T | CA350446255 | ABCA12,SNHG31 | c.6512C>A (p.Ala2171Glu) c.5558C>A (p.Ala1853Glu) n.6812C>A n.444+6042G>T c.6521C>A (p.Ala2174Glu) n.7010C>A | |
2 | g.214953990C>A | CA350446258 | ABCA12,SNHG31 | c.6511G>T (p.Ala2171Ser) c.5557G>T (p.Ala1853Ser) n.6811G>T n.444+6043C>A c.6520G>T (p.Ala2174Ser) n.7009G>T | |
2 | g.214953990C>G | CA350446256 | ABCA12,SNHG31 | c.6511G>C (p.Ala2171Pro) c.5557G>C (p.Ala1853Pro) n.6811G>C n.444+6043C>G c.6520G>C (p.Ala2174Pro) n.7009G>C | |
2 | g.214953990C>T | CA350446257 | ABCA12,SNHG31 | c.6511G>A (p.Ala2171Thr) c.5557G>A (p.Ala1853Thr) n.6811G>A n.444+6043C>T c.6520G>A (p.Ala2174Thr) n.7009G>A | |
2 | g.214953991T>A | CA350446259 | ABCA12,SNHG31 | c.6510A>T (p.Lys2170Asn) c.5556A>T (p.Lys1852Asn) n.6810A>T n.444+6044T>A c.6519A>T (p.Lys2173Asn) n.7008A>T | |
2 | g.214953991T>C | CA431388145 | ABCA12,SNHG31 | c.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 |
2 | g.214953991T>G | CA350446260 | ABCA12,SNHG31 | c.6510A>C (p.Lys2170Asn) c.5556A>C (p.Lys1852Asn) n.6810A>C n.444+6044T>G c.6519A>C (p.Lys2173Asn) n.7008A>C | |
2 | g.214953991T= | CA1327150100 | ABCA12,SNHG31 | c.6510A= (p.Lys2170=) c.5556A= (p.Lys1852=) n.6810A= n.444+6044T= c.6519A= (p.Lys2173=) n.7008A= | |
2 | g.214953992T>A | CA350446261 | ABCA12,SNHG31 | c.6509A>T (p.Lys2170Ile) c.5555A>T (p.Lys1852Ile) n.6809A>T n.444+6045T>A c.6518A>T (p.Lys2173Ile) n.7007A>T | |
2 | g.214953992T>C | CA350446262 | ABCA12,SNHG31 | c.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 |
2 | g.214953992T>G | CA350446263 | ABCA12,SNHG31 | c.6509A>C (p.Lys2170Thr) c.5555A>C (p.Lys1852Thr) n.6809A>C n.444+6045T>G c.6518A>C (p.Lys2173Thr) n.7007A>C | |
2 | g.214953993T>A | CA350446264 | ABCA12,SNHG31 | c.6508A>T (p.Lys2170Ter) c.5554A>T (p.Lys1852Ter) n.6808A>T n.444+6046T>A c.6517A>T (p.Lys2173Ter) n.7006A>T | |
2 | g.214953993T>C | CA350446266 | ABCA12,SNHG31 | c.6508A>G (p.Lys2170Glu) c.5554A>G (p.Lys1852Glu) n.6808A>G n.444+6046T>C c.6517A>G (p.Lys2173Glu) n.7006A>G | |
2 | g.214953993T>G | CA350446265 | ABCA12,SNHG31 | c.6508A>C (p.Lys2170Gln) c.5554A>C (p.Lys1852Gln) n.6808A>C n.444+6046T>G c.6517A>C (p.Lys2173Gln) n.7006A>C | |
2 | g.214953994T>A | CA350446267 | ABCA12,SNHG31 | c.6507A>T (p.Leu2169Phe) c.5553A>T (p.Leu1851Phe) n.6807A>T n.444+6047T>A c.6516A>T (p.Leu2172Phe) n.7005A>T | |
2 | g.214953994T>C | CA431388148 | ABCA12,SNHG31 | c.6507A>G (p.Leu2169=) c.5553A>G (p.Leu1851=) n.6807A>G n.444+6047T>C c.6516A>G (p.Leu2172=) n.7005A>G | |
2 | g.214953994T>G | CA350446268 | ABCA12,SNHG31 | c.6507A>C (p.Leu2169Phe) c.5553A>C (p.Leu1851Phe) n.6807A>C n.444+6047T>G c.6516A>C (p.Leu2172Phe) n.7005A>C | |
2 | g.214953995A>C | CA350446269 | ABCA12,SNHG31 | c.6506T>G (p.Leu2169Ter) c.5552T>G (p.Leu1851Ter) n.6806T>G n.444+6048A>C c.6515T>G (p.Leu2172Ter) n.7004T>G | |
2 | g.214953995A>G | CA350446270 | ABCA12,SNHG31 | c.6506T>C (p.Leu2169Ser) c.5552T>C (p.Leu1851Ser) n.6806T>C n.444+6048A>G c.6515T>C (p.Leu2172Ser) n.7004T>C | |
2 | g.214953995A>T | CA350446271 | ABCA12,SNHG31 | c.6506T>A (p.Leu2169Ter) c.5552T>A (p.Leu1851Ter) n.6806T>A n.444+6048A>T c.6515T>A (p.Leu2172Ter) n.7004T>A | |
2 | g.214953996A>C | CA350446272 | ABCA12,SNHG31 | c.6505T>G (p.Leu2169Val) c.5551T>G (p.Leu1851Val) n.6805T>G n.444+6049A>C c.6514T>G (p.Leu2172Val) n.7003T>G | |
2 | g.214953996A>G | CA431388151 | ABCA12,SNHG31 | c.6505T>C (p.Leu2169=) c.5551T>C (p.Leu1851=) n.6805T>C n.444+6049A>G c.6514T>C (p.Leu2172=) n.7003T>C | |
2 | g.214953996A>T | CA350446273 | ABCA12,SNHG31 | c.6505T>A (p.Leu2169Ile) c.5551T>A (p.Leu1851Ile) n.6805T>A n.444+6049A>T c.6514T>A (p.Leu2172Ile) n.7003T>A | |
2 | g.214953997G>A | CA2090890 | ABCA12,SNHG31 | c.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 |
2 | g.214953997G>C | CA350446274 | ABCA12,SNHG31 | c.6504C>G (p.Phe2168Leu) c.5550C>G (p.Phe1850Leu) n.6804C>G n.444+6050G>C c.6513C>G (p.Phe2171Leu) n.7002C>G | |
2 | g.214953997G= | CA1327150101 | ABCA12,SNHG31 | c.6504C= (p.Phe2168=) c.5550C= (p.Phe1850=) n.6804C= n.444+6050G= c.6513C= (p.Phe2171=) n.7002C= | |
2 | g.214953997G>T | CA350446275 | ABCA12,SNHG31 | c.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 |
2 | g.214953998A= | CA1327150102 | ABCA12,SNHG31 | c.6503T= (p.Phe2168=) c.5549T= (p.Phe1850=) n.6803T= n.444+6051A= c.6512T= (p.Phe2171=) n.7001T= | |
2 | g.214953998A>C | CA350446278 | ABCA12,SNHG31 | c.6503T>G (p.Phe2168Cys) c.5549T>G (p.Phe1850Cys) n.6803T>G n.444+6051A>C c.6512T>G (p.Phe2171Cys) n.7001T>G | |
2 | g.214953998A>G | CA350446277 | ABCA12,SNHG31 | c.6503T>C (p.Phe2168Ser) c.5549T>C (p.Phe1850Ser) n.6803T>C n.444+6051A>G c.6512T>C (p.Phe2171Ser) n.7001T>C | |
2 | g.214953998A>T | CA350446276 | ABCA12,SNHG31 | c.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 |
2 | g.214953999A>C | CA350446279 | ABCA12,SNHG31 | c.6502T>G (p.Phe2168Val) c.5548T>G (p.Phe1850Val) n.6802T>G n.444+6052A>C c.6511T>G (p.Phe2171Val) n.7000T>G | |
2 | g.214953999A>G | CA350446281 | ABCA12,SNHG31 | c.6502T>C (p.Phe2168Leu) c.5548T>C (p.Phe1850Leu) n.6802T>C n.444+6052A>G c.6511T>C (p.Phe2171Leu) n.7000T>C | |
2 | g.214953999A>T | CA350446280 | ABCA12,SNHG31 | c.6502T>A (p.Phe2168Ile) c.5548T>A (p.Phe1850Ile) n.6802T>A n.444+6052A>T c.6511T>A (p.Phe2171Ile) n.7000T>A | |
2 | g.214954000G>A | CA2090891 | ABCA12,SNHG31 | c.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 |
2 | g.214954000G>C | CA350446282 | ABCA12,SNHG31 | c.6501C>G (p.Asp2167Glu) c.5547C>G (p.Asp1849Glu) n.6801C>G n.444+6053G>C c.6510C>G (p.Asp2170Glu) n.6999C>G | |
2 | g.214954000G= | CA1327150103 | ABCA12,SNHG31 | c.6501C= (p.Asp2167=) c.5547C= (p.Asp1849=) n.6801C= n.444+6053G= c.6510C= (p.Asp2170=) n.6999C= | |
2 | g.214954000G>T | CA350446283 | ABCA12,SNHG31 | c.6501C>A (p.Asp2167Glu) c.5547C>A (p.Asp1849Glu) n.6801C>A n.444+6053G>T c.6510C>A (p.Asp2170Glu) n.6999C>A | |
2 | g.214954001T>A | CA350446284 | ABCA12,SNHG31 | c.6500A>T (p.Asp2167Val) c.5546A>T (p.Asp1849Val) n.6800A>T n.444+6054T>A c.6509A>T (p.Asp2170Val) n.6998A>T | |
2 | g.214954001T>C | CA350446285 | ABCA12,SNHG31 | c.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 |
2 | g.214954001T>G | CA350446286 | ABCA12,SNHG31 | c.6500A>C (p.Asp2167Ala) c.5546A>C (p.Asp1849Ala) n.6800A>C n.444+6054T>G c.6509A>C (p.Asp2170Ala) n.6998A>C | |
2 | g.214954001T= | CA1327150104 | ABCA12,SNHG31 | c.6500A= (p.Asp2167=) c.5546A= (p.Asp1849=) n.6800A= n.444+6054T= c.6509A= (p.Asp2170=) n.6998A= | |
2 | g.214954002C>A | CA350446287 | ABCA12,SNHG31 | c.6499G>T (p.Asp2167Tyr) c.5545G>T (p.Asp1849Tyr) n.6799G>T n.444+6055C>A c.6508G>T (p.Asp2170Tyr) n.6997G>T | |
2 | g.214954002C>G | CA350446288 | ABCA12,SNHG31 | c.6499G>C (p.Asp2167His) c.5545G>C (p.Asp1849His) n.6799G>C n.444+6055C>G c.6508G>C (p.Asp2170His) n.6997G>C | |
2 | g.214954002C>T | CA350446289 | ABCA12,SNHG31 | c.6499G>A (p.Asp2167Asn) c.5545G>A (p.Asp1849Asn) n.6799G>A n.444+6055C>T c.6508G>A (p.Asp2170Asn) n.6997G>A | |
2 | g.214954003T>A | CA431388156 | ABCA12,SNHG31 | c.6498A>T (p.Leu2166=) c.5544A>T (p.Leu1848=) n.6798A>T n.444+6056T>A c.6507A>T (p.Leu2169=) n.6996A>T | |
2 | g.214954003T>C | CA431388158 | ABCA12,SNHG31 | c.6498A>G (p.Leu2166=) c.5544A>G (p.Leu1848=) n.6798A>G n.444+6056T>C c.6507A>G (p.Leu2169=) n.6996A>G | |
2 | g.214954003T>G | CA431388159 | ABCA12,SNHG31 | c.6498A>C (p.Leu2166=) c.5544A>C (p.Leu1848=) n.6798A>C n.444+6056T>G c.6507A>C (p.Leu2169=) n.6996A>C | |
2 | g.214954004A>C | CA350446290 | ABCA12,SNHG31 | c.6497T>G (p.Leu2166Arg) c.5543T>G (p.Leu1848Arg) n.6797T>G n.444+6057A>C c.6506T>G (p.Leu2169Arg) n.6995T>G | |
2 | g.214954004A>G | CA350446291 | ABCA12,SNHG31 | c.6497T>C (p.Leu2166Pro) c.5543T>C (p.Leu1848Pro) n.6797T>C n.444+6057A>G c.6506T>C (p.Leu2169Pro) n.6995T>C | |
2 | g.214954004A>T | CA350446292 | ABCA12,SNHG31 | c.6497T>A (p.Leu2166Gln) c.5543T>A (p.Leu1848Gln) n.6797T>A n.444+6057A>T c.6506T>A (p.Leu2169Gln) n.6995T>A | |
2 | g.214954005G>A | CA431388161 | ABCA12,SNHG31 | c.6496C>T (p.Leu2166=) c.5542C>T (p.Leu1848=) n.6796C>T n.444+6058G>A c.6505C>T (p.Leu2169=) n.6994C>T | |
2 | g.214954005G>C | CA350446294 | ABCA12,SNHG31 | c.6496C>G (p.Leu2166Val) c.5542C>G (p.Leu1848Val) n.6796C>G n.444+6058G>C c.6505C>G (p.Leu2169Val) n.6994C>G | |
2 | g.214954005G>T | CA350446293 | ABCA12,SNHG31 | c.6496C>A (p.Leu2166Ile) c.5542C>A (p.Leu1848Ile) n.6796C>A n.444+6058G>T c.6505C>A (p.Leu2169Ile) n.6994C>A | |
2 | g.214954006G>A | CA431388163 | ABCA12,SNHG31 | c.6495C>T (p.Val2165=) c.5541C>T (p.Val1847=) n.6795C>T n.444+6059G>A c.6504C>T (p.Val2168=) n.6993C>T | |
2 | g.214954006G>C | CA431388164 | ABCA12,SNHG31 | c.6495C>G (p.Val2165=) c.5541C>G (p.Val1847=) n.6795C>G n.444+6059G>C c.6504C>G (p.Val2168=) n.6993C>G | |
2 | g.214954006G>T | CA431388165 | ABCA12,SNHG31 | c.6495C>A (p.Val2165=) c.5541C>A (p.Val1847=) n.6795C>A n.444+6059G>T c.6504C>A (p.Val2168=) n.6993C>A | |
2 | g.214954007A>C | CA350446295 | ABCA12,SNHG31 | c.6494T>G (p.Val2165Gly) c.5540T>G (p.Val1847Gly) n.6794T>G n.444+6060A>C c.6503T>G (p.Val2168Gly) n.6992T>G | |
2 | g.214954007A>G | CA350446296 | ABCA12,SNHG31 | c.6494T>C (p.Val2165Ala) c.5540T>C (p.Val1847Ala) n.6794T>C n.444+6060A>G c.6503T>C (p.Val2168Ala) n.6992T>C | |
2 | g.214954007A>T | CA350446297 | ABCA12,SNHG31 | c.6494T>A (p.Val2165Asp) c.5540T>A (p.Val1847Asp) n.6794T>A n.444+6060A>T c.6503T>A (p.Val2168Asp) n.6992T>A | |
2 | g.214954008C>A | CA350446298 | ABCA12,SNHG31 | c.6493G>T (p.Val2165Phe) c.5539G>T (p.Val1847Phe) n.6793G>T n.444+6061C>A c.6502G>T (p.Val2168Phe) n.6991G>T | |
2 | g.214954008C>G | CA350446299 | ABCA12,SNHG31 | c.6493G>C (p.Val2165Leu) c.5539G>C (p.Val1847Leu) n.6793G>C n.444+6061C>G c.6502G>C (p.Val2168Leu) n.6991G>C | gnomAD v4 |
2 | g.214954008C>T | CA350446300 | ABCA12,SNHG31 | c.6493G>A (p.Val2165Ile) c.5539G>A (p.Val1847Ile) n.6793G>A n.444+6061C>T c.6502G>A (p.Val2168Ile) n.6991G>A | gnomAD v4 |
2 | g.214954009C>A | CA431388171 | ABCA12,SNHG31 | c.6492G>T (p.Ser2164=) c.5538G>T (p.Ser1846=) n.6792G>T n.444+6062C>A c.6501G>T (p.Ser2167=) n.6990G>T | |
2 | g.214954009C= | CA1327150105 | ABCA12,SNHG31 | c.6492G= (p.Ser2164=) c.5538G= (p.Ser1846=) n.6792G= n.444+6062C= c.6501G= (p.Ser2167=) n.6990G= | |
2 | g.214954009C>G | CA431388172 | ABCA12,SNHG31 | c.6492G>C (p.Ser2164=) c.5538G>C (p.Ser1846=) n.6792G>C n.444+6062C>G c.6501G>C (p.Ser2167=) n.6990G>C | |
2 | g.214954009C>T | CA2090892 | ABCA12,SNHG31 | c.6492G>A (p.Ser2164=) c.5538G>A (p.Ser1846=) n.6792G>A n.444+6062C>T c.6501G>A (p.Ser2167=) n.6990G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214954010G>A | CA2090893 | ABCA12,SNHG31 | c.6491C>T (p.Ser2164Leu) c.5537C>T (p.Ser1846Leu) n.6791C>T n.444+6063G>A c.6500C>T (p.Ser2167Leu) n.6989C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.214954010G>C | CA350446301 | ABCA12,SNHG31 | c.6491C>G (p.Ser2164Trp) c.5537C>G (p.Ser1846Trp) n.6791C>G n.444+6063G>C c.6500C>G (p.Ser2167Trp) n.6989C>G | |
2 | g.214954010G= | CA1327150106 | ABCA12,SNHG31 | c.6491C= (p.Ser2164=) c.5537C= (p.Ser1846=) n.6791C= n.444+6063G= c.6500C= (p.Ser2167=) n.6989C= | |
2 | g.214954010G>T | CA350446302 | ABCA12,SNHG31 | c.6491C>A (p.Ser2164Ter) c.5537C>A (p.Ser1846Ter) n.6791C>A n.444+6063G>T c.6500C>A (p.Ser2167Ter) n.6989C>A | gnomAD v4 |
2 | g.214954011A>C | CA350446303 | ABCA12,SNHG31 | c.6490T>G (p.Ser2164Ala) c.5536T>G (p.Ser1846Ala) n.6790T>G n.444+6064A>C c.6499T>G (p.Ser2167Ala) n.6988T>G | gnomAD v4 |
2 | g.214954011A>G | CA350446304 | ABCA12,SNHG31 | c.6490T>C (p.Ser2164Pro) c.5536T>C (p.Ser1846Pro) n.6790T>C n.444+6064A>G c.6499T>C (p.Ser2167Pro) n.6988T>C | |
2 | g.214954011A>T | CA350446305 | ABCA12,SNHG31 | c.6490T>A (p.Ser2164Thr) c.5536T>A (p.Ser1846Thr) n.6790T>A n.444+6064A>T c.6499T>A (p.Ser2167Thr) n.6988T>A | gnomAD v4 |
2 | g.214954012C>A | CA350446306 | ABCA12,SNHG31 | c.6489G>T (p.Gln2163His) c.5535G>T (p.Gln1845His) n.6789G>T n.444+6065C>A c.6498G>T (p.Gln2166His) n.6987G>T | COSMIC COSMIC |
2 | g.214954012C= | CA1327150107 | ABCA12,SNHG31 | c.6489G= (p.Gln2163=) c.5535G= (p.Gln1845=) n.6789G= n.444+6065C= c.6498G= (p.Gln2166=) n.6987G= | |
2 | g.214954012C>G | CA350446307 | ABCA12,SNHG31 | c.6489G>C (p.Gln2163His) c.5535G>C (p.Gln1845His) n.6789G>C n.444+6065C>G c.6498G>C (p.Gln2166His) n.6987G>C | |
2 | g.214954012C>T | CA431388174 | ABCA12,SNHG31 | c.6489G>A (p.Gln2163=) c.5535G>A (p.Gln1845=) n.6789G>A n.444+6065C>T c.6498G>A (p.Gln2166=) n.6987G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.214954013T>A | CA350446308 | ABCA12,SNHG31 | c.6488A>T (p.Gln2163Leu) c.5534A>T (p.Gln1845Leu) n.6788A>T n.444+6066T>A c.6497A>T (p.Gln2166Leu) n.6986A>T | |
2 | g.214954013T>C | CA350446309 | ABCA12,SNHG31 | c.6488A>G (p.Gln2163Arg) c.5534A>G (p.Gln1845Arg) n.6788A>G n.444+6066T>C c.6497A>G (p.Gln2166Arg) n.6986A>G | |
2 | g.214954013T>G | CA350446310 | ABCA12,SNHG31 | c.6488A>C (p.Gln2163Pro) c.5534A>C (p.Gln1845Pro) n.6788A>C n.444+6066T>G c.6497A>C (p.Gln2166Pro) n.6986A>C | |
2 | g.214954014G>A | CA350446311 | ABCA12,SNHG31 | c.6487C>T (p.Gln2163Ter) c.5533C>T (p.Gln1845Ter) n.6787C>T n.444+6067G>A c.6496C>T (p.Gln2166Ter) n.6985C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214954014G>C | CA350446312 | ABCA12,SNHG31 | c.6487C>G (p.Gln2163Glu) c.5533C>G (p.Gln1845Glu) n.6787C>G n.444+6067G>C c.6496C>G (p.Gln2166Glu) n.6985C>G | |
2 | g.214954014G= | CA1327150108 | ABCA12,SNHG31 | c.6487C= (p.Gln2163=) c.5533C= (p.Gln1845=) n.6787C= n.444+6067G= c.6496C= (p.Gln2166=) n.6985C= | |
2 | g.214954014G>T | CA350446313 | ABCA12,SNHG31 | c.6487C>A (p.Gln2163Lys) c.5533C>A (p.Gln1845Lys) n.6787C>A n.444+6067G>T c.6496C>A (p.Gln2166Lys) n.6985C>A | COSMIC COSMIC |
2 | g.214954015T>A | CA350446314 | ABCA12,SNHG31 | c.6486A>T (p.Gln2162His) c.5532A>T (p.Gln1844His) n.6786A>T n.444+6068T>A c.6495A>T (p.Gln2165His) n.6984A>T | |
2 | g.214954015T>C | CA431388177 | ABCA12,SNHG31 | c.6486A>G (p.Gln2162=) c.5532A>G (p.Gln1844=) n.6786A>G n.444+6068T>C c.6495A>G (p.Gln2165=) n.6984A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214954015T>G | CA350446315 | ABCA12,SNHG31 | c.6486A>C (p.Gln2162His) c.5532A>C (p.Gln1844His) n.6786A>C n.444+6068T>G c.6495A>C (p.Gln2165His) n.6984A>C | |
2 | g.214954015T= | CA1327150109 | ABCA12,SNHG31 | c.6486A= (p.Gln2162=) c.5532A= (p.Gln1844=) n.6786A= n.444+6068T= c.6495A= (p.Gln2165=) n.6984A= |