Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.214978747_214978773delCA2662978090ABCA12c.4977+32_4977+58del (n.4977+32_4977+58del)
c.4023+32_4023+58del (n.4023+32_4023+58del)
n.5277+32_5277+58del
c.4986+32_4986+58del (n.4986+32_4986+58del)
n.5475+32_5475+58del
 gnomAD v4
2g.214978756C=CA1327160287ABCA12c.4977+48G= (n.4977+48G=)
c.4023+48G= (n.4023+48G=)
n.5277+48G=
c.4986+48G= (n.4986+48G=)
n.5475+48G=
2g.214978756C>GCA539837551ABCA12c.4977+48G>C (n.4977+48G>C)
c.4023+48G>C (n.4023+48G>C)
n.5277+48G>C
c.4986+48G>C (n.4986+48G>C)
n.5475+48G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214978756C>TCA539837552ABCA12c.4977+48G>A (n.4977+48G>A)
c.4023+48G>A (n.4023+48G>A)
n.5277+48G>A
c.4986+48G>A (n.4986+48G>A)
n.5475+48G>A
 dbSNP gnomAD v2 gnomAD v4
2g.214978757A=CA1327160288ABCA12c.4977+47T= (n.4977+47T=)
c.4023+47T= (n.4023+47T=)
n.5277+47T=
c.4986+47T= (n.4986+47T=)
n.5475+47T=
2g.214978757A>GCA1042216787ABCA12c.4977+47T>C (n.4977+47T>C)
c.4023+47T>C (n.4023+47T>C)
n.5277+47T>C
c.4986+47T>C (n.4986+47T>C)
n.5475+47T>C
 dbSNP gnomAD v3 gnomAD v4
2g.214978758G>ACA764596290ABCA12c.4977+46C>T (n.4977+46C>T)
c.4023+46C>T (n.4023+46C>T)
n.5277+46C>T
c.4986+46C>T (n.4986+46C>T)
n.5475+46C>T
 dbSNP gnomAD v4
2g.214978758G=CA1327160289ABCA12c.4977+46C= (n.4977+46C=)
c.4023+46C= (n.4023+46C=)
n.5277+46C=
c.4986+46C= (n.4986+46C=)
n.5475+46C=
2g.214978759C=CA1327160290ABCA12c.4977+45G= (n.4977+45G=)
c.4023+45G= (n.4023+45G=)
n.5277+45G=
c.4986+45G= (n.4986+45G=)
n.5475+45G=
2g.214978759C>TCA764596294ABCA12c.4977+45G>A (n.4977+45G>A)
c.4023+45G>A (n.4023+45G>A)
n.5277+45G>A
c.4986+45G>A (n.4986+45G>A)
n.5475+45G>A
 dbSNP
2g.214978761A=CA1327160291ABCA12c.4977+43T= (n.4977+43T=)
c.4023+43T= (n.4023+43T=)
n.5277+43T=
c.4986+43T= (n.4986+43T=)
n.5475+43T=
2g.214978761A>CCA2662978103ABCA12c.4977+43T>G (n.4977+43T>G)
c.4023+43T>G (n.4023+43T>G)
n.5277+43T>G
c.4986+43T>G (n.4986+43T>G)
n.5475+43T>G
 gnomAD v4
2g.214978761A>GCA1327160292ABCA12c.4977+43T>C (n.4977+43T>C)
c.4023+43T>C (n.4023+43T>C)
n.5277+43T>C
c.4986+43T>C (n.4986+43T>C)
n.5475+43T>C
 dbSNP
2g.214978761A>TCA2577234952ABCA12c.4977+43T>A (n.4977+43T>A)
c.4023+43T>A (n.4023+43T>A)
n.5277+43T>A
c.4986+43T>A (n.4986+43T>A)
n.5475+43T>A
2g.214978762G>CCA2662978105ABCA12c.4977+42C>G (n.4977+42C>G)
c.4023+42C>G (n.4023+42C>G)
n.5277+42C>G
c.4986+42C>G (n.4986+42C>G)
n.5475+42C>G
 gnomAD v4
2g.214978763T>ACA1042216788ABCA12c.4977+41A>T (n.4977+41A>T)
c.4023+41A>T (n.4023+41A>T)
n.5277+41A>T
c.4986+41A>T (n.4986+41A>T)
n.5475+41A>T
 dbSNP gnomAD v3 gnomAD v4
2g.214978763T=CA1327160293ABCA12c.4977+41A= (n.4977+41A=)
c.4023+41A= (n.4023+41A=)
n.5277+41A=
c.4986+41A= (n.4986+41A=)
n.5475+41A=
2g.214978764T>CCA2577234953ABCA12c.4977+40A>G (n.4977+40A>G)
c.4023+40A>G (n.4023+40A>G)
n.5277+40A>G
c.4986+40A>G (n.4986+40A>G)
n.5475+40A>G
2g.214978766T>CCA2662978106ABCA12c.4977+38A>G (n.4977+38A>G)
c.4023+38A>G (n.4023+38A>G)
n.5277+38A>G
c.4986+38A>G (n.4986+38A>G)
n.5475+38A>G
 gnomAD v4
2g.214978767A=CA1327160294ABCA12c.4977+37T= (n.4977+37T=)
c.4023+37T= (n.4023+37T=)
n.5277+37T=
c.4986+37T= (n.4986+37T=)
n.5475+37T=
2g.214978767A>GCA764596295ABCA12c.4977+37T>C (n.4977+37T>C)
c.4023+37T>C (n.4023+37T>C)
n.5277+37T>C
c.4986+37T>C (n.4986+37T>C)
n.5475+37T>C
 dbSNP gnomAD v3 gnomAD v4
2g.214978769C>ACA2514415089ABCA12c.4977+35G>T (n.4977+35G>T)
c.4023+35G>T (n.4023+35G>T)
n.5277+35G>T
c.4986+35G>T (n.4986+35G>T)
n.5475+35G>T
2g.214978769C=CA1327160295ABCA12c.4977+35G= (n.4977+35G=)
c.4023+35G= (n.4023+35G=)
n.5277+35G=
c.4986+35G= (n.4986+35G=)
n.5475+35G=
2g.214978769C>TCA64813508ABCA12c.4977+35G>A (n.4977+35G>A)
c.4023+35G>A (n.4023+35G>A)
n.5277+35G>A
c.4986+35G>A (n.4986+35G>A)
n.5475+35G>A
 dbSNP
2g.214978770A=CA1327160296ABCA12c.4977+34T= (n.4977+34T=)
c.4023+34T= (n.4023+34T=)
n.5277+34T=
c.4986+34T= (n.4986+34T=)
n.5475+34T=
2g.214978770A>GCA2091335ABCA12c.4977+34T>C (n.4977+34T>C)
c.4023+34T>C (n.4023+34T>C)
n.5277+34T>C
c.4986+34T>C (n.4986+34T>C)
n.5475+34T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214978771G>ACA2662978108ABCA12c.4977+33C>T (n.4977+33C>T)
c.4023+33C>T (n.4023+33C>T)
n.5277+33C>T
c.4986+33C>T (n.4986+33C>T)
n.5475+33C>T
 gnomAD v4
2g.214978771G>TCA2662978109ABCA12c.4977+33C>A (n.4977+33C>A)
c.4023+33C>A (n.4023+33C>A)
n.5277+33C>A
c.4986+33C>A (n.4986+33C>A)
n.5475+33C>A
 gnomAD v4
2g.214978773T>CCA2503530746ABCA12c.4977+31A>G (n.4977+31A>G)
c.4023+31A>G (n.4023+31A>G)
n.5277+31A>G
c.4986+31A>G (n.4986+31A>G)
n.5475+31A>G
 gnomAD v4
2g.214978774T>CCA539837553ABCA12c.4977+30A>G (n.4977+30A>G)
c.4023+30A>G (n.4023+30A>G)
n.5277+30A>G
c.4986+30A>G (n.4986+30A>G)
n.5475+30A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214978774T=CA1327160297ABCA12c.4977+30A= (n.4977+30A=)
c.4023+30A= (n.4023+30A=)
n.5277+30A=
c.4986+30A= (n.4986+30A=)
n.5475+30A=
2g.214978776A=CA1327160298ABCA12c.4977+28T= (n.4977+28T=)
c.4023+28T= (n.4023+28T=)
n.5277+28T=
c.4986+28T= (n.4986+28T=)
n.5475+28T=
2g.214978776A>CCA539837554ABCA12c.4977+28T>G (n.4977+28T>G)
c.4023+28T>G (n.4023+28T>G)
n.5277+28T>G
c.4986+28T>G (n.4986+28T>G)
n.5475+28T>G
 dbSNP gnomAD v2 gnomAD v4
2g.214978777A>GCA2754209619ABCA12c.4977+27T>C (n.4977+27T>C)
c.4023+27T>C (n.4023+27T>C)
n.5277+27T>C
c.4986+27T>C (n.4986+27T>C)
n.5475+27T>C
2g.214978778G=CA1327160299ABCA12c.4977+26C= (n.4977+26C=)
c.4023+26C= (n.4023+26C=)
n.5277+26C=
c.4986+26C= (n.4986+26C=)
n.5475+26C=
2g.214978778G>TCA539837555ABCA12c.4977+26C>A (n.4977+26C>A)
c.4023+26C>A (n.4023+26C>A)
n.5277+26C>A
c.4986+26C>A (n.4986+26C>A)
n.5475+26C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214978779A>GCA2577234954ABCA12c.4977+25T>C (n.4977+25T>C)
c.4023+25T>C (n.4023+25T>C)
n.5277+25T>C
c.4986+25T>C (n.4986+25T>C)
n.5475+25T>C
2g.214978786dupCA2091336ABCA12c.4977+25dup (n.4977+25dup)
c.4023+25dup (n.4023+25dup)
n.5277+25dup
c.4986+25dup (n.4986+25dup)
n.5475+25dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214978786delCA2662978116ABCA12c.4977+25del (n.4977+25del)
c.4023+25del (n.4023+25del)
n.5277+25del
c.4986+25del (n.4986+25del)
n.5475+25del
 gnomAD v4
2g.214978780A=CA1327160300ABCA12c.4977+24T= (n.4977+24T=)
c.4023+24T= (n.4023+24T=)
n.5277+24T=
c.4986+24T= (n.4986+24T=)
n.5475+24T=
2g.214978780A>CCA539837556ABCA12c.4977+24T>G (n.4977+24T>G)
c.4023+24T>G (n.4023+24T>G)
n.5277+24T>G
c.4986+24T>G (n.4986+24T>G)
n.5475+24T>G
 dbSNP gnomAD v2 gnomAD v4
2g.214978780A>GCA1042216793ABCA12c.4977+24T>C (n.4977+24T>C)
c.4023+24T>C (n.4023+24T>C)
n.5277+24T>C
c.4986+24T>C (n.4986+24T>C)
n.5475+24T>C
 dbSNP gnomAD v3 gnomAD v4
2g.214978781A=CA1327160301ABCA12c.4977+23T= (n.4977+23T=)
c.4023+23T= (n.4023+23T=)
n.5277+23T=
c.4986+23T= (n.4986+23T=)
n.5475+23T=
2g.214978781A>GCA539837557ABCA12c.4977+23T>C (n.4977+23T>C)
c.4023+23T>C (n.4023+23T>C)
n.5277+23T>C
c.4986+23T>C (n.4986+23T>C)
n.5475+23T>C
 dbSNP gnomAD v2 gnomAD v4
2g.214978782A>GCA2662978121ABCA12c.4977+22T>C (n.4977+22T>C)
c.4023+22T>C (n.4023+22T>C)
n.5277+22T>C
c.4986+22T>C (n.4986+22T>C)
n.5475+22T>C
 gnomAD v4
2g.214978784A>TCA2739279714ABCA12c.4977+20T>A (n.4977+20T>A)
c.4023+20T>A (n.4023+20T>A)
n.5277+20T>A
c.4986+20T>A (n.4986+20T>A)
n.5475+20T>A
 ClinVar
2g.214978784_214978787delinsAAAGCA1327160302ABCA12c.4977+17_4977+20delinsCTTT (n.4977+17_4977+20delinsCTTT)
c.4023+17_4023+20delinsCTTT (n.4023+17_4023+20delinsCTTT)
n.5277+17_5277+20delinsCTTT
c.4986+17_4986+20delinsCTTT (n.4986+17_4986+20delinsCTTT)
n.5475+17_5475+20delinsCTTT
2g.214978787_214978789delCA2091337ABCA12c.4977+17_4977+19del (n.4977+17_4977+19del)
c.4023+17_4023+19del (n.4023+17_4023+19del)
n.5277+17_5277+19del
c.4986+17_4986+19del (n.4986+17_4986+19del)
n.5475+17_5475+19del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.214978789A=CA1327160303ABCA12c.4977+15T= (n.4977+15T=)
c.4023+15T= (n.4023+15T=)
n.5277+15T=
c.4986+15T= (n.4986+15T=)
n.5475+15T=
2g.214978789A>TCA539837558ABCA12c.4977+15T>A (n.4977+15T>A)
c.4023+15T>A (n.4023+15T>A)
n.5277+15T>A
c.4986+15T>A (n.4986+15T>A)
n.5475+15T>A
 dbSNP gnomAD v2 gnomAD v4
2g.214978790A>CCA2662978128ABCA12c.4977+14T>G (n.4977+14T>G)
c.4023+14T>G (n.4023+14T>G)
n.5277+14T>G
c.4986+14T>G (n.4986+14T>G)
n.5475+14T>G
 gnomAD v4
2g.214978790A>GCA2697550429ABCA12c.4977+14T>C (n.4977+14T>C)
c.4023+14T>C (n.4023+14T>C)
n.5277+14T>C
c.4986+14T>C (n.4986+14T>C)
n.5475+14T>C
 ClinVar
2g.214978793T>CCA2754209620ABCA12c.4977+11A>G (n.4977+11A>G)
c.4023+11A>G (n.4023+11A>G)
n.5277+11A>G
c.4986+11A>G (n.4986+11A>G)
n.5475+11A>G
2g.214978794_214978795insCACTTGAAGTCACA2567078097ABCA12c.4977+9_4977+10insTGACTTCAAGTG (n.4977+9_4977+10insTGACTTCAAGTG)
c.4023+9_4023+10insTGACTTCAAGTG (n.4023+9_4023+10insTGACTTCAAGTG)
n.5277+9_5277+10insTGACTTCAAGTG
c.4986+9_4986+10insTGACTTCAAGTG (n.4986+9_4986+10insTGACTTCAAGTG)
n.5475+9_5475+10insTGACTTCAAGTG
2g.214978796A>TCA2662978130ABCA12c.4977+8T>A (n.4977+8T>A)
c.4023+8T>A (n.4023+8T>A)
n.5277+8T>A
c.4986+8T>A (n.4986+8T>A)
n.5475+8T>A
 gnomAD v4
2g.214978797G>ACA2662978131ABCA12c.4977+7C>T (n.4977+7C>T)
c.4023+7C>T (n.4023+7C>T)
n.5277+7C>T
c.4986+7C>T (n.4986+7C>T)
n.5475+7C>T
 gnomAD v4
2g.214978797G>TCA2662978132ABCA12c.4977+7C>A (n.4977+7C>A)
c.4023+7C>A (n.4023+7C>A)
n.5277+7C>A
c.4986+7C>A (n.4986+7C>A)
n.5475+7C>A
 gnomAD v4
2g.214978798G>ACA2091338ABCA12c.4977+6C>T (n.4977+6C>T)
c.4023+6C>T (n.4023+6C>T)
n.5277+6C>T
c.4986+6C>T (n.4986+6C>T)
n.5475+6C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214978798G=CA1327160304ABCA12c.4977+6C= (n.4977+6C=)
c.4023+6C= (n.4023+6C=)
n.5277+6C=
c.4986+6C= (n.4986+6C=)
n.5475+6C=
2g.214978800A>GCA2662978136ABCA12c.4977+4T>C (n.4977+4T>C)
c.4023+4T>C (n.4023+4T>C)
n.5277+4T>C
c.4986+4T>C (n.4986+4T>C)
n.5475+4T>C
 gnomAD v4
2g.214978802A>CCA350459416ABCA12c.4977+2T>G (n.4977+2T>G)
c.4023+2T>G (n.4023+2T>G)
n.5277+2T>G
c.4986+2T>G (n.4986+2T>G)
n.5475+2T>G
2g.214978802A>GCA350459418ABCA12c.4977+2T>C (n.4977+2T>C)
c.4023+2T>C (n.4023+2T>C)
n.5277+2T>C
c.4986+2T>C (n.4986+2T>C)
n.5475+2T>C
2g.214978802A>TCA350459420ABCA12c.4977+2T>A (n.4977+2T>A)
c.4023+2T>A (n.4023+2T>A)
n.5277+2T>A
c.4986+2T>A (n.4986+2T>A)
n.5475+2T>A
2g.214978803C>ACA350459425ABCA12c.4977+1G>T (n.4977+1G>T)
c.4023+1G>T (n.4023+1G>T)
n.5277+1G>T
c.4986+1G>T (n.4986+1G>T)
n.5475+1G>T
2g.214978803C>GCA350459424ABCA12c.4977+1G>C (n.4977+1G>C)
c.4023+1G>C (n.4023+1G>C)
n.5277+1G>C
c.4986+1G>C (n.4986+1G>C)
n.5475+1G>C
2g.214978803C>TCA350459422ABCA12c.4977+1G>A (n.4977+1G>A)
c.4023+1G>A (n.4023+1G>A)
n.5277+1G>A
c.4986+1G>A (n.4986+1G>A)
n.5475+1G>A
 COSMIC COSMIC
2g.214978804C>ACA350459427ABCA12c.4977G>T (p.Glu1659Asp)
c.4023G>T (p.Glu1341Asp)
n.5277G>T
c.4986G>T (p.Glu1662Asp)
n.5475G>T
2g.214978804C=CA1327160305ABCA12c.4977G= (p.Glu1659=)
c.4023G= (p.Glu1341=)
n.5277G=
c.4986G= (p.Glu1662=)
n.5475G=
2g.214978804C>GCA350459429ABCA12c.4977G>C (p.Glu1659Asp)
c.4023G>C (p.Glu1341Asp)
n.5277G>C
c.4986G>C (p.Glu1662Asp)
n.5475G>C
2g.214978804C>TCA431146918ABCA12c.4977G>A (p.Glu1659=)
c.4023G>A (p.Glu1341=)
n.5277G>A
c.4986G>A (p.Glu1662=)
n.5475G>A
 dbSNP gnomAD v4
2g.214978805T>ACA350459432ABCA12c.4976A>T (p.Glu1659Val)
c.4022A>T (p.Glu1341Val)
n.5276A>T
c.4985A>T (p.Glu1662Val)
n.5474A>T
2g.214978805T>CCA350459435ABCA12c.4976A>G (p.Glu1659Gly)
c.4022A>G (p.Glu1341Gly)
n.5276A>G
c.4985A>G (p.Glu1662Gly)
n.5474A>G
2g.214978805T>GCA350459437ABCA12c.4976A>C (p.Glu1659Ala)
c.4022A>C (p.Glu1341Ala)
n.5276A>C
c.4985A>C (p.Glu1662Ala)
n.5474A>C
2g.214978806C>ACA350459439ABCA12c.4975G>T (p.Glu1659Ter)
c.4021G>T (p.Glu1341Ter)
n.5275G>T
c.4984G>T (p.Glu1662Ter)
n.5473G>T
2g.214978806C>GCA350459441ABCA12c.4975G>C (p.Glu1659Gln)
c.4021G>C (p.Glu1341Gln)
n.5275G>C
c.4984G>C (p.Glu1662Gln)
n.5473G>C
2g.214978806C>TCA350459443ABCA12c.4975G>A (p.Glu1659Lys)
c.4021G>A (p.Glu1341Lys)
n.5275G>A
c.4984G>A (p.Glu1662Lys)
n.5473G>A
2g.214978807C>ACA350459445ABCA12c.4974G>T (p.Glu1658Asp)
c.4020G>T (p.Glu1340Asp)
n.5274G>T
c.4983G>T (p.Glu1661Asp)
n.5472G>T
2g.214978807C>GCA350459447ABCA12c.4974G>C (p.Glu1658Asp)
c.4020G>C (p.Glu1340Asp)
n.5274G>C
c.4983G>C (p.Glu1661Asp)
n.5472G>C
2g.214978807C>TCA431146930ABCA12c.4974G>A (p.Glu1658=)
c.4020G>A (p.Glu1340=)
n.5274G>A
c.4983G>A (p.Glu1661=)
n.5472G>A
2g.214978808T>ACA350459451ABCA12c.4973A>T (p.Glu1658Val)
c.4019A>T (p.Glu1340Val)
n.5273A>T
c.4982A>T (p.Glu1661Val)
n.5471A>T
2g.214978808T>CCA350459453ABCA12c.4973A>G (p.Glu1658Gly)
c.4019A>G (p.Glu1340Gly)
n.5273A>G
c.4982A>G (p.Glu1661Gly)
n.5471A>G
2g.214978808T>GCA350459455ABCA12c.4973A>C (p.Glu1658Ala)
c.4019A>C (p.Glu1340Ala)
n.5273A>C
c.4982A>C (p.Glu1661Ala)
n.5471A>C
2g.214978809C>ACA350459460ABCA12c.4972G>T (p.Glu1658Ter)
c.4018G>T (p.Glu1340Ter)
n.5272G>T
c.4981G>T (p.Glu1661Ter)
n.5470G>T
2g.214978809C=CA1327160306ABCA12c.4972G= (p.Glu1658=)
c.4018G= (p.Glu1340=)
n.5272G=
c.4981G= (p.Glu1661=)
n.5470G=
2g.214978809C>GCA350459462ABCA12c.4972G>C (p.Glu1658Gln)
c.4018G>C (p.Glu1340Gln)
n.5272G>C
c.4981G>C (p.Glu1661Gln)
n.5470G>C
 dbSNP
2g.214978809C>TCA350459458ABCA12c.4972G>A (p.Glu1658Lys)
c.4018G>A (p.Glu1340Lys)
n.5272G>A
c.4981G>A (p.Glu1661Lys)
n.5470G>A
 dbSNP
2g.214978810C>ACA431146942ABCA12c.4971G>T (p.Val1657=)
c.4017G>T (p.Val1339=)
n.5271G>T
c.4980G>T (p.Val1660=)
n.5469G>T
2g.214978810C=CA1327160307ABCA12c.4971G= (p.Val1657=)
c.4017G= (p.Val1339=)
n.5271G=
c.4980G= (p.Val1660=)
n.5469G=
2g.214978810C>GCA431146944ABCA12c.4971G>C (p.Val1657=)
c.4017G>C (p.Val1339=)
n.5271G>C
c.4980G>C (p.Val1660=)
n.5469G>C
 dbSNP gnomAD v2 gnomAD v4
2g.214978810C>TCA431146945ABCA12c.4971G>A (p.Val1657=)
c.4017G>A (p.Val1339=)
n.5271G>A
c.4980G>A (p.Val1660=)
n.5469G>A
2g.214978811A>CCA350459465ABCA12c.4970T>G (p.Val1657Gly)
c.4016T>G (p.Val1339Gly)
n.5270T>G
c.4979T>G (p.Val1660Gly)
n.5468T>G
2g.214978811A>GCA350459467ABCA12c.4970T>C (p.Val1657Ala)
c.4016T>C (p.Val1339Ala)
n.5270T>C
c.4979T>C (p.Val1660Ala)
n.5468T>C
2g.214978811A>TCA350459469ABCA12c.4970T>A (p.Val1657Glu)
c.4016T>A (p.Val1339Glu)
n.5270T>A
c.4979T>A (p.Val1660Glu)
n.5468T>A
2g.214978812C>ACA350459471ABCA12c.4969G>T (p.Val1657Leu)
c.4015G>T (p.Val1339Leu)
n.5269G>T
c.4978G>T (p.Val1660Leu)
n.5467G>T
2g.214978812C=CA1327160308ABCA12c.4969G= (p.Val1657=)
c.4015G= (p.Val1339=)
n.5269G=
c.4978G= (p.Val1660=)
n.5467G=
2g.214978812C>GCA350459473ABCA12c.4969G>C (p.Val1657Leu)
c.4015G>C (p.Val1339Leu)
n.5269G>C
c.4978G>C (p.Val1660Leu)
n.5467G>C
2g.214978812C>TCA2091339ABCA12c.4969G>A (p.Val1657Met)
c.4015G>A (p.Val1339Met)
n.5269G>A
c.4978G>A (p.Val1660Met)
n.5467G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214978813G>ACA2091340ABCA12c.4968C>T (p.Thr1656=)
c.4014C>T (p.Thr1338=)
n.5268C>T
c.4977C>T (p.Thr1659=)
n.5466C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.214978813G>CCA431146955ABCA12c.4968C>G (p.Thr1656=)
c.4014C>G (p.Thr1338=)
n.5268C>G
c.4977C>G (p.Thr1659=)
n.5466C>G
2g.214978813G=CA1327160309ABCA12c.4968C= (p.Thr1656=)
c.4014C= (p.Thr1338=)
n.5268C=
c.4977C= (p.Thr1659=)
n.5466C=
2g.214978813G>TCA431146964ABCA12c.4968C>A (p.Thr1656=)
c.4014C>A (p.Thr1338=)
n.5268C>A
c.4977C>A (p.Thr1659=)
n.5466C>A
2g.214978814G>ACA2091341ABCA12c.4967C>T (p.Thr1656Ile)
c.4013C>T (p.Thr1338Ile)
n.5267C>T
c.4976C>T (p.Thr1659Ile)
n.5465C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214978814G>CCA350459477ABCA12c.4967C>G (p.Thr1656Ser)
c.4013C>G (p.Thr1338Ser)
n.5267C>G
c.4976C>G (p.Thr1659Ser)
n.5465C>G
2g.214978814G=CA1327160310ABCA12c.4967C= (p.Thr1656=)
c.4013C= (p.Thr1338=)
n.5267C=
c.4976C= (p.Thr1659=)
n.5465C=
2g.214978814G>TCA350459480ABCA12c.4967C>A (p.Thr1656Asn)
c.4013C>A (p.Thr1338Asn)
n.5267C>A
c.4976C>A (p.Thr1659Asn)
n.5465C>A
2g.214978815T>ACA350459483ABCA12c.4966A>T (p.Thr1656Ser)
c.4012A>T (p.Thr1338Ser)
n.5266A>T
c.4975A>T (p.Thr1659Ser)
n.5464A>T
2g.214978815T>CCA350459486ABCA12c.4966A>G (p.Thr1656Ala)
c.4012A>G (p.Thr1338Ala)
n.5266A>G
c.4975A>G (p.Thr1659Ala)
n.5464A>G
2g.214978815T>GCA350459488ABCA12c.4966A>C (p.Thr1656Pro)
c.4012A>C (p.Thr1338Pro)
n.5266A>C
c.4975A>C (p.Thr1659Pro)
n.5464A>C
2g.214978816G>ACA431146968ABCA12c.4965C>T (p.Thr1655=)
c.4011C>T (p.Thr1337=)
n.5265C>T
c.4974C>T (p.Thr1658=)
n.5463C>T
 gnomAD v4
2g.214978816G>CCA431146971ABCA12c.4965C>G (p.Thr1655=)
c.4011C>G (p.Thr1337=)
n.5265C>G
c.4974C>G (p.Thr1658=)
n.5463C>G
2g.214978816G>TCA431146978ABCA12c.4965C>A (p.Thr1655=)
c.4011C>A (p.Thr1337=)
n.5265C>A
c.4974C>A (p.Thr1658=)
n.5463C>A
2g.214978817G>ACA350459491ABCA12c.4964C>T (p.Thr1655Ile)
c.4010C>T (p.Thr1337Ile)
n.5264C>T
c.4973C>T (p.Thr1658Ile)
n.5462C>T
2g.214978817G>CCA350459495ABCA12c.4964C>G (p.Thr1655Ser)
c.4010C>G (p.Thr1337Ser)
n.5264C>G
c.4973C>G (p.Thr1658Ser)
n.5462C>G
2g.214978817G>TCA350459493ABCA12c.4964C>A (p.Thr1655Asn)
c.4010C>A (p.Thr1337Asn)
n.5264C>A
c.4973C>A (p.Thr1658Asn)
n.5462C>A
2g.214978818T>ACA350459498ABCA12c.4963A>T (p.Thr1655Ser)
c.4009A>T (p.Thr1337Ser)
n.5263A>T
c.4972A>T (p.Thr1658Ser)
n.5461A>T
2g.214978818T>CCA350459500ABCA12c.4963A>G (p.Thr1655Ala)
c.4009A>G (p.Thr1337Ala)
n.5263A>G
c.4972A>G (p.Thr1658Ala)
n.5461A>G
2g.214978818T>GCA350459502ABCA12c.4963A>C (p.Thr1655Pro)
c.4009A>C (p.Thr1337Pro)
n.5263A>C
c.4972A>C (p.Thr1658Pro)
n.5461A>C
2g.214978819A>CCA350459504ABCA12c.4962T>G (p.Asp1654Glu)
c.4008T>G (p.Asp1336Glu)
n.5262T>G
c.4971T>G (p.Asp1657Glu)
n.5460T>G
2g.214978819A>GCA431146993ABCA12c.4962T>C (p.Asp1654=)
c.4008T>C (p.Asp1336=)
n.5262T>C
c.4971T>C (p.Asp1657=)
n.5460T>C
2g.214978819A>TCA350459506ABCA12c.4962T>A (p.Asp1654Glu)
c.4008T>A (p.Asp1336Glu)
n.5262T>A
c.4971T>A (p.Asp1657Glu)
n.5460T>A
2g.214978820T>ACA350459509ABCA12c.4961A>T (p.Asp1654Val)
c.4007A>T (p.Asp1336Val)
n.5261A>T
c.4970A>T (p.Asp1657Val)
n.5459A>T
2g.214978820T>CCA350459511ABCA12c.4961A>G (p.Asp1654Gly)
c.4007A>G (p.Asp1336Gly)
n.5261A>G
c.4970A>G (p.Asp1657Gly)
n.5459A>G
 gnomAD v4
2g.214978820T>GCA350459513ABCA12c.4961A>C (p.Asp1654Ala)
c.4007A>C (p.Asp1336Ala)
n.5261A>C
c.4970A>C (p.Asp1657Ala)
n.5459A>C
2g.214978821C>ACA350459516ABCA12c.4960G>T (p.Asp1654Tyr)
c.4006G>T (p.Asp1336Tyr)
n.5260G>T
c.4969G>T (p.Asp1657Tyr)
n.5458G>T
2g.214978821C>GCA350459518ABCA12c.4960G>C (p.Asp1654His)
c.4006G>C (p.Asp1336His)
n.5260G>C
c.4969G>C (p.Asp1657His)
n.5458G>C
2g.214978821C>TCA350459520ABCA12c.4960G>A (p.Asp1654Asn)
c.4006G>A (p.Asp1336Asn)
n.5260G>A
c.4969G>A (p.Asp1657Asn)
n.5458G>A
2g.214978822T>ACA431147006ABCA12c.4959A>T (p.Ser1653=)
c.4005A>T (p.Ser1335=)
n.5259A>T
c.4968A>T (p.Ser1656=)
n.5457A>T
2g.214978822T>CCA431147008ABCA12c.4959A>G (p.Ser1653=)
c.4005A>G (p.Ser1335=)
n.5259A>G
c.4968A>G (p.Ser1656=)
n.5457A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214978822T>GCA431147010ABCA12c.4959A>C (p.Ser1653=)
c.4005A>C (p.Ser1335=)
n.5259A>C
c.4968A>C (p.Ser1656=)
n.5457A>C
2g.214978822T=CA1327160311ABCA12c.4959A= (p.Ser1653=)
c.4005A= (p.Ser1335=)
n.5259A=
c.4968A= (p.Ser1656=)
n.5457A=
2g.214978823G>ACA350459525ABCA12c.4958C>T (p.Ser1653Leu)
c.4004C>T (p.Ser1335Leu)
n.5258C>T
c.4967C>T (p.Ser1656Leu)
n.5456C>T
2g.214978823G>CCA350459527ABCA12c.4958C>G (p.Ser1653Ter)
c.4004C>G (p.Ser1335Ter)
n.5258C>G
c.4967C>G (p.Ser1656Ter)
n.5456C>G
2g.214978823G>TCA350459523ABCA12c.4958C>A (p.Ser1653Ter)
c.4004C>A (p.Ser1335Ter)
n.5258C>A
c.4967C>A (p.Ser1656Ter)
n.5456C>A
2g.214978824A>CCA350459528ABCA12c.4957T>G (p.Ser1653Ala)
c.4003T>G (p.Ser1335Ala)
n.5257T>G
c.4966T>G (p.Ser1656Ala)
n.5455T>G
2g.214978824A>GCA350459532ABCA12c.4957T>C (p.Ser1653Pro)
c.4003T>C (p.Ser1335Pro)
n.5257T>C
c.4966T>C (p.Ser1656Pro)
n.5455T>C
2g.214978824A>TCA350459534ABCA12c.4957T>A (p.Ser1653Thr)
c.4003T>A (p.Ser1335Thr)
n.5257T>A
c.4966T>A (p.Ser1656Thr)
n.5455T>A
2g.214978825A>CCA350459537ABCA12c.4956T>G (p.Ile1652Met)
c.4002T>G (p.Ile1334Met)
n.5256T>G
c.4965T>G (p.Ile1655Met)
n.5454T>G
2g.214978825A>GCA431147025ABCA12c.4956T>C (p.Ile1652=)
c.4002T>C (p.Ile1334=)
n.5256T>C
c.4965T>C (p.Ile1655=)
n.5454T>C
2g.214978825A>TCA431147023ABCA12c.4956T>A (p.Ile1652=)
c.4002T>A (p.Ile1334=)
n.5256T>A
c.4965T>A (p.Ile1655=)
n.5454T>A
2g.214978826A>CCA350459539ABCA12c.4955T>G (p.Ile1652Ser)
c.4001T>G (p.Ile1334Ser)
n.5255T>G
c.4964T>G (p.Ile1655Ser)
n.5453T>G
2g.214978826A>GCA350459540ABCA12c.4955T>C (p.Ile1652Thr)
c.4001T>C (p.Ile1334Thr)
n.5255T>C
c.4964T>C (p.Ile1655Thr)
n.5453T>C
 gnomAD v4
2g.214978826A>TCA350459542ABCA12c.4955T>A (p.Ile1652Asn)
c.4001T>A (p.Ile1334Asn)
n.5255T>A
c.4964T>A (p.Ile1655Asn)
n.5453T>A
2g.214978827T>ACA350459545ABCA12c.4954A>T (p.Ile1652Phe)
c.4000A>T (p.Ile1334Phe)
n.5254A>T
c.4963A>T (p.Ile1655Phe)
n.5452A>T
2g.214978827T>CCA350459547ABCA12c.4954A>G (p.Ile1652Val)
c.4000A>G (p.Ile1334Val)
n.5254A>G
c.4963A>G (p.Ile1655Val)
n.5452A>G
2g.214978827T>GCA350459549ABCA12c.4954A>C (p.Ile1652Leu)
c.4000A>C (p.Ile1334Leu)
n.5254A>C
c.4963A>C (p.Ile1655Leu)
n.5452A>C
2g.214978828G>ACA431147041ABCA12c.4953C>T (p.Gly1651=)
c.3999C>T (p.Gly1333=)
n.5253C>T
c.4962C>T (p.Gly1654=)
n.5451C>T
2g.214978828G>CCA431147044ABCA12c.4953C>G (p.Gly1651=)
c.3999C>G (p.Gly1333=)
n.5253C>G
c.4962C>G (p.Gly1654=)
n.5451C>G
2g.214978828G>TCA431147047ABCA12c.4953C>A (p.Gly1651=)
c.3999C>A (p.Gly1333=)
n.5253C>A
c.4962C>A (p.Gly1654=)
n.5451C>A
2g.214978829C>ACA350459550ABCA12c.4952G>T (p.Gly1651Val)
c.3998G>T (p.Gly1333Val)
n.5252G>T
c.4961G>T (p.Gly1654Val)
n.5450G>T
2g.214978829C=CA1327160312ABCA12c.4952G= (p.Gly1651=)
c.3998G= (p.Gly1333=)
n.5252G=
c.4961G= (p.Gly1654=)
n.5450G=
2g.214978829C>GCA350459553ABCA12c.4952G>C (p.Gly1651Ala)
c.3998G>C (p.Gly1333Ala)
n.5252G>C
c.4961G>C (p.Gly1654Ala)
n.5450G>C
2g.214978829C>TCA350459555ABCA12c.4952G>A (p.Gly1651Asp)
c.3998G>A (p.Gly1333Asp)
n.5252G>A
c.4961G>A (p.Gly1654Asp)
n.5450G>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.214978830C>ACA350459561ABCA12c.4951G>T (p.Gly1651Cys)
c.3997G>T (p.Gly1333Cys)
n.5251G>T
c.4960G>T (p.Gly1654Cys)
n.5449G>T
2g.214978830C=CA1327160313ABCA12c.4951G= (p.Gly1651=)
c.3997G= (p.Gly1333=)
n.5251G=
c.4960G= (p.Gly1654=)
n.5449G=
2g.214978830C>GCA350459559ABCA12c.4951G>C (p.Gly1651Arg)
c.3997G>C (p.Gly1333Arg)
n.5251G>C
c.4960G>C (p.Gly1654Arg)
n.5449G>C
2g.214978830C>TCA252476ABCA12c.4951G>A (p.Gly1651Ser)
c.3997G>A (p.Gly1333Ser)
n.5251G>A
c.4960G>A (p.Gly1654Ser)
n.5449G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214978831G>ACA2091342ABCA12c.4950C>T (p.Tyr1650=)
c.3996C>T (p.Tyr1332=)
n.5250C>T
c.4959C>T (p.Tyr1653=)
n.5448C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.214978831G>CCA350459564ABCA12c.4950C>G (p.Tyr1650Ter)
c.3996C>G (p.Tyr1332Ter)
n.5250C>G
c.4959C>G (p.Tyr1653Ter)
n.5448C>G
2g.214978831G=CA1327160314ABCA12c.4950C= (p.Tyr1650=)
c.3996C= (p.Tyr1332=)
n.5250C=
c.4959C= (p.Tyr1653=)
n.5448C=
2g.214978831G>TCA350459566ABCA12c.4950C>A (p.Tyr1650Ter)
c.3996C>A (p.Tyr1332Ter)
n.5250C>A
c.4959C>A (p.Tyr1653Ter)
n.5448C>A
2g.214978832T>ACA350459569ABCA12c.4949A>T (p.Tyr1650Phe)
c.3995A>T (p.Tyr1332Phe)
n.5249A>T
c.4958A>T (p.Tyr1653Phe)
n.5447A>T
2g.214978832T>CCA2091343ABCA12c.4949A>G (p.Tyr1650Cys)
c.3995A>G (p.Tyr1332Cys)
n.5249A>G
c.4958A>G (p.Tyr1653Cys)
n.5447A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214978832T>GCA350459572ABCA12c.4949A>C (p.Tyr1650Ser)
c.3995A>C (p.Tyr1332Ser)
n.5249A>C
c.4958A>C (p.Tyr1653Ser)
n.5447A>C
2g.214978832T=CA1327160315ABCA12c.4949A= (p.Tyr1650=)
c.3995A= (p.Tyr1332=)
n.5249A=
c.4958A= (p.Tyr1653=)
n.5447A=
2g.214978833A>CCA350459575ABCA12c.4948T>G (p.Tyr1650Asp)
c.3994T>G (p.Tyr1332Asp)
n.5248T>G
c.4957T>G (p.Tyr1653Asp)
n.5446T>G
2g.214978833A>GCA350459577ABCA12c.4948T>C (p.Tyr1650His)
c.3994T>C (p.Tyr1332His)
n.5248T>C
c.4957T>C (p.Tyr1653His)
n.5446T>C
2g.214978833A>TCA350459580ABCA12c.4948T>A (p.Tyr1650Asn)
c.3994T>A (p.Tyr1332Asn)
n.5248T>A
c.4957T>A (p.Tyr1653Asn)
n.5446T>A
2g.214978834G>ACA431147079ABCA12c.4947C>T (p.Cys1649=)
c.3993C>T (p.Cys1331=)
n.5247C>T
c.4956C>T (p.Cys1652=)
n.5445C>T
 ClinVar gnomAD v4
2g.214978834G>CCA350459582ABCA12c.4947C>G (p.Cys1649Trp)
c.3993C>G (p.Cys1331Trp)
n.5247C>G
c.4956C>G (p.Cys1652Trp)
n.5445C>G
2g.214978834G>TCA350459583ABCA12c.4947C>A (p.Cys1649Ter)
c.3993C>A (p.Cys1331Ter)
n.5247C>A
c.4956C>A (p.Cys1652Ter)
n.5445C>A
2g.214978835C>ACA350459585ABCA12c.4946G>T (p.Cys1649Phe)
c.3992G>T (p.Cys1331Phe)
n.5246G>T
c.4955G>T (p.Cys1652Phe)
n.5444G>T
2g.214978835C=CA1327160316ABCA12c.4946G= (p.Cys1649=)
c.3992G= (p.Cys1331=)
n.5246G=
c.4955G= (p.Cys1652=)
n.5444G=
2g.214978835C>GCA350459587ABCA12c.4946G>C (p.Cys1649Ser)
c.3992G>C (p.Cys1331Ser)
n.5246G>C
c.4955G>C (p.Cys1652Ser)
n.5444G>C
2g.214978835C>TCA2091344ABCA12c.4946G>A (p.Cys1649Tyr)
c.3992G>A (p.Cys1331Tyr)
n.5246G>A
c.4955G>A (p.Cys1652Tyr)
n.5444G>A
 dbSNP ExAC
2g.214978836A=CA1327160317ABCA12c.4945T= (p.Cys1649=)
c.3991T= (p.Cys1331=)
n.5245T=
c.4954T= (p.Cys1652=)
n.5443T=
2g.214978836A>CCA350459592ABCA12c.4945T>G (p.Cys1649Gly)
c.3991T>G (p.Cys1331Gly)
n.5245T>G
c.4954T>G (p.Cys1652Gly)
n.5443T>G
2g.214978836A>GCA350459593ABCA12c.4945T>C (p.Cys1649Arg)
c.3991T>C (p.Cys1331Arg)
n.5245T>C
c.4954T>C (p.Cys1652Arg)
n.5443T>C
2g.214978836A>TCA350459591ABCA12c.4945T>A (p.Cys1649Ser)
c.3991T>A (p.Cys1331Ser)
n.5245T>A
c.4954T>A (p.Cys1652Ser)
n.5443T>A
 dbSNP
2g.214978837C>ACA431147099ABCA12c.4944G>T (p.Gly1648=)
c.3990G>T (p.Gly1330=)
n.5244G>T
c.4953G>T (p.Gly1651=)
n.5442G>T
2g.214978837C>GCA431147102ABCA12c.4944G>C (p.Gly1648=)
c.3990G>C (p.Gly1330=)
n.5244G>C
c.4953G>C (p.Gly1651=)
n.5442G>C
2g.214978837C>TCA431147105ABCA12c.4944G>A (p.Gly1648=)
c.3990G>A (p.Gly1330=)
n.5244G>A
c.4953G>A (p.Gly1651=)
n.5442G>A
2g.214978838C>ACA64813546ABCA12c.4943G>T (p.Gly1648Val)
c.3989G>T (p.Gly1330Val)
n.5243G>T
c.4952G>T (p.Gly1651Val)
n.5441G>T
 dbSNP gnomAD v2 gnomAD v4
2g.214978838C=CA1327160318ABCA12c.4943G= (p.Gly1648=)
c.3989G= (p.Gly1330=)
n.5243G=
c.4952G= (p.Gly1651=)
n.5441G=
2g.214978838C>GCA350459597ABCA12c.4943G>C (p.Gly1648Ala)
c.3989G>C (p.Gly1330Ala)
n.5243G>C
c.4952G>C (p.Gly1651Ala)
n.5441G>C
2g.214978838C>TCA350459598ABCA12c.4943G>A (p.Gly1648Glu)
c.3989G>A (p.Gly1330Glu)
n.5243G>A
c.4952G>A (p.Gly1651Glu)
n.5441G>A
 COSMIC COSMIC
2g.214978839C>ACA350459600ABCA12c.4942G>T (p.Gly1648Trp)
c.3988G>T (p.Gly1330Trp)
n.5242G>T
c.4951G>T (p.Gly1651Trp)
n.5440G>T
2g.214978839C=CA1327160319ABCA12c.4942G= (p.Gly1648=)
c.3988G= (p.Gly1330=)
n.5242G=
c.4951G= (p.Gly1651=)
n.5440G=
2g.214978839C>GCA350459602ABCA12c.4942G>C (p.Gly1648Arg)
c.3988G>C (p.Gly1330Arg)
n.5242G>C
c.4951G>C (p.Gly1651Arg)
n.5440G>C
2g.214978839C>TCA2091345ABCA12c.4942G>A (p.Gly1648Arg)
c.3988G>A (p.Gly1330Arg)
n.5242G>A
c.4951G>A (p.Gly1651Arg)
n.5440G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214978840G>ACA2091346ABCA12c.4941C>T (p.Ile1647=)
c.3987C>T (p.Ile1329=)
n.5241C>T
c.4950C>T (p.Ile1650=)
n.5439C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.214978840G>CCA350459607ABCA12c.4941C>G (p.Ile1647Met)
c.3987C>G (p.Ile1329Met)
n.5241C>G
c.4950C>G (p.Ile1650Met)
n.5439C>G
2g.214978840G=CA1327160320ABCA12c.4941C= (p.Ile1647=)
c.3987C= (p.Ile1329=)
n.5241C=
c.4950C= (p.Ile1650=)
n.5439C=
2g.214978840G>TCA431147118ABCA12c.4941C>A (p.Ile1647=)
c.3987C>A (p.Ile1329=)
n.5241C>A
c.4950C>A (p.Ile1650=)
n.5439C>A
2g.214978841A>CCA350459610ABCA12c.4940T>G (p.Ile1647Ser)
c.3986T>G (p.Ile1329Ser)
n.5240T>G
c.4949T>G (p.Ile1650Ser)
n.5438T>G
 COSMIC
2g.214978841A>GCA350459612ABCA12c.4940T>C (p.Ile1647Thr)
c.3986T>C (p.Ile1329Thr)
n.5240T>C
c.4949T>C (p.Ile1650Thr)
n.5438T>C
2g.214978841A>TCA350459614ABCA12c.4940T>A (p.Ile1647Asn)
c.3986T>A (p.Ile1329Asn)
n.5240T>A
c.4949T>A (p.Ile1650Asn)
n.5438T>A
2g.214978842T>ACA350459621ABCA12c.4939A>T (p.Ile1647Phe)
c.3985A>T (p.Ile1329Phe)
n.5239A>T
c.4948A>T (p.Ile1650Phe)
n.5437A>T
 dbSNP gnomAD v2 gnomAD v4
2g.214978842T>CCA350459626ABCA12c.4939A>G (p.Ile1647Val)
c.3985A>G (p.Ile1329Val)
n.5239A>G
c.4948A>G (p.Ile1650Val)
n.5437A>G
2g.214978842T>GCA350459627ABCA12c.4939A>C (p.Ile1647Leu)
c.3985A>C (p.Ile1329Leu)
n.5239A>C
c.4948A>C (p.Ile1650Leu)
n.5437A>C
2g.214978842T=CA1327160321ABCA12c.4939A= (p.Ile1647=)
c.3985A= (p.Ile1329=)
n.5239A=
c.4948A= (p.Ile1650=)
n.5437A=
2g.214978843G>ACA431147131ABCA12c.4938C>T (p.Asn1646=)
c.3984C>T (p.Asn1328=)
n.5238C>T
c.4947C>T (p.Asn1649=)
n.5436C>T
 dbSNP gnomAD v4
2g.214978843G>CCA350459630ABCA12c.4938C>G (p.Asn1646Lys)
c.3984C>G (p.Asn1328Lys)
n.5238C>G
c.4947C>G (p.Asn1649Lys)
n.5436C>G
2g.214978843G=CA1327160322ABCA12c.4938C= (p.Asn1646=)
c.3984C= (p.Asn1328=)
n.5238C=
c.4947C= (p.Asn1649=)
n.5436C=
2g.214978843G>TCA350459631ABCA12c.4938C>A (p.Asn1646Lys)
c.3984C>A (p.Asn1328Lys)
n.5238C>A
c.4947C>A (p.Asn1649Lys)
n.5436C>A
2g.214978844T>ACA350459634ABCA12c.4937A>T (p.Asn1646Ile)
c.3983A>T (p.Asn1328Ile)
n.5237A>T
c.4946A>T (p.Asn1649Ile)
n.5435A>T
2g.214978844T>CCA350459636ABCA12c.4937A>G (p.Asn1646Ser)
c.3983A>G (p.Asn1328Ser)
n.5237A>G
c.4946A>G (p.Asn1649Ser)
n.5435A>G
2g.214978844T>GCA350459637ABCA12c.4937A>C (p.Asn1646Thr)
c.3983A>C (p.Asn1328Thr)
n.5237A>C
c.4946A>C (p.Asn1649Thr)
n.5435A>C
2g.214978845T>ACA350459640ABCA12c.4936A>T (p.Asn1646Tyr)
c.3982A>T (p.Asn1328Tyr)
n.5236A>T
c.4945A>T (p.Asn1649Tyr)
n.5434A>T
2g.214978845T>CCA350459642ABCA12c.4936A>G (p.Asn1646Asp)
c.3982A>G (p.Asn1328Asp)
n.5236A>G
c.4945A>G (p.Asn1649Asp)
n.5434A>G
2g.214978845T>GCA350459644ABCA12c.4936A>C (p.Asn1646His)
c.3982A>C (p.Asn1328His)
n.5236A>C
c.4945A>C (p.Asn1649His)
n.5434A>C
2g.214978846G>ACA431147151ABCA12c.4935C>T (p.Leu1645=)
c.3981C>T (p.Leu1327=)
n.5235C>T
c.4944C>T (p.Leu1648=)
n.5433C>T
2g.214978846G>CCA431147157ABCA12c.4935C>G (p.Leu1645=)
c.3981C>G (p.Leu1327=)
n.5235C>G
c.4944C>G (p.Leu1648=)
n.5433C>G
2g.214978846G>TCA431147154ABCA12c.4935C>A (p.Leu1645=)
c.3981C>A (p.Leu1327=)
n.5235C>A
c.4944C>A (p.Leu1648=)
n.5433C>A
2g.214978847A=CA1327160323ABCA12c.4934T= (p.Leu1645=)
c.3980T= (p.Leu1327=)
n.5234T=
c.4943T= (p.Leu1648=)
n.5432T=
2g.214978847A>CCA350459647ABCA12c.4934T>G (p.Leu1645Arg)
c.3980T>G (p.Leu1327Arg)
n.5234T>G
c.4943T>G (p.Leu1648Arg)
n.5432T>G
2g.214978847A>GCA350459649ABCA12c.4934T>C (p.Leu1645Pro)
c.3980T>C (p.Leu1327Pro)
n.5234T>C
c.4943T>C (p.Leu1648Pro)
n.5432T>C
2g.214978847A>TCA2091347ABCA12c.4934T>A (p.Leu1645His)
c.3980T>A (p.Leu1327His)
n.5234T>A
c.4943T>A (p.Leu1648His)
n.5432T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214978848G>ACA350459653ABCA12c.4933C>T (p.Leu1645Phe)
c.3979C>T (p.Leu1327Phe)
n.5233C>T
c.4942C>T (p.Leu1648Phe)
n.5431C>T
2g.214978848G>CCA350459655ABCA12c.4933C>G (p.Leu1645Val)
c.3979C>G (p.Leu1327Val)
n.5233C>G
c.4942C>G (p.Leu1648Val)
n.5431C>G
2g.214978848G>TCA350459656ABCA12c.4933C>A (p.Leu1645Ile)
c.3979C>A (p.Leu1327Ile)
n.5233C>A
c.4942C>A (p.Leu1648Ile)
n.5431C>A
2g.214978849G>ACA2091348ABCA12c.4932C>T (p.Asp1644=)
c.3978C>T (p.Asp1326=)
n.5232C>T
c.4941C>T (p.Asp1647=)
n.5430C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.214978849G>CCA350459660ABCA12c.4932C>G (p.Asp1644Glu)
c.3978C>G (p.Asp1326Glu)
n.5232C>G
c.4941C>G (p.Asp1647Glu)
n.5430C>G
2g.214978849G=CA1327160324ABCA12c.4932C= (p.Asp1644=)
c.3978C= (p.Asp1326=)
n.5232C=
c.4941C= (p.Asp1647=)
n.5430C=
2g.214978849G>TCA350459661ABCA12c.4932C>A (p.Asp1644Glu)
c.3978C>A (p.Asp1326Glu)
n.5232C>A
c.4941C>A (p.Asp1647Glu)
n.5430C>A
2g.214978850T>ACA350459665ABCA12c.4931A>T (p.Asp1644Val)
c.3977A>T (p.Asp1326Val)
n.5231A>T
c.4940A>T (p.Asp1647Val)
n.5429A>T
2g.214978850T>CCA350459669ABCA12c.4931A>G (p.Asp1644Gly)
c.3977A>G (p.Asp1326Gly)
n.5231A>G
c.4940A>G (p.Asp1647Gly)
n.5429A>G
2g.214978850T>GCA350459667ABCA12c.4931A>C (p.Asp1644Ala)
c.3977A>C (p.Asp1326Ala)
n.5231A>C
c.4940A>C (p.Asp1647Ala)
n.5429A>C
2g.214978851C>ACA350459673ABCA12c.4930G>T (p.Asp1644Tyr)
c.3976G>T (p.Asp1326Tyr)
n.5230G>T
c.4939G>T (p.Asp1647Tyr)
n.5428G>T
 gnomAD v4
2g.214978851C=CA1327160325ABCA12c.4930G= (p.Asp1644=)
c.3976G= (p.Asp1326=)
n.5230G=
c.4939G= (p.Asp1647=)
n.5428G=
2g.214978851C>GCA64813589ABCA12c.4930G>C (p.Asp1644His)
c.3976G>C (p.Asp1326His)
n.5230G>C
c.4939G>C (p.Asp1647His)
n.5428G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214978851C>TCA350459675ABCA12c.4930G>A (p.Asp1644Asn)
c.3976G>A (p.Asp1326Asn)
n.5230G>A
c.4939G>A (p.Asp1647Asn)
n.5428G>A
 gnomAD v4
2g.214978852A>CCA431147189ABCA12c.4929T>G (p.Gly1643=)
c.3975T>G (p.Gly1325=)
n.5229T>G
c.4938T>G (p.Gly1646=)
n.5427T>G
2g.214978852A>GCA431147192ABCA12c.4929T>C (p.Gly1643=)
c.3975T>C (p.Gly1325=)
n.5229T>C
c.4938T>C (p.Gly1646=)
n.5427T>C
2g.214978852A>TCA431147194ABCA12c.4929T>A (p.Gly1643=)
c.3975T>A (p.Gly1325=)
n.5229T>A
c.4938T>A (p.Gly1646=)
n.5427T>A
2g.214978853C>ACA2091349ABCA12c.4928G>T (p.Gly1643Val)
c.3974G>T (p.Gly1325Val)
n.5228G>T
c.4937G>T (p.Gly1646Val)
n.5426G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214978853C=CA1327160326ABCA12c.4928G= (p.Gly1643=)
c.3974G= (p.Gly1325=)
n.5228G=
c.4937G= (p.Gly1646=)
n.5426G=
2g.214978853C>GCA350459685ABCA12c.4928G>C (p.Gly1643Ala)
c.3974G>C (p.Gly1325Ala)
n.5228G>C
c.4937G>C (p.Gly1646Ala)
n.5426G>C
2g.214978853C>TCA350459683ABCA12c.4928G>A (p.Gly1643Asp)
c.3974G>A (p.Gly1325Asp)
n.5228G>A
c.4937G>A (p.Gly1646Asp)
n.5426G>A
2g.214978854C>ACA2091351ABCA12c.4927G>T (p.Gly1643Cys)
c.3973G>T (p.Gly1325Cys)
n.5227G>T
c.4936G>T (p.Gly1646Cys)
n.5425G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214978854C=CA1327160327ABCA12c.4927G= (p.Gly1643=)
c.3973G= (p.Gly1325=)
n.5227G=
c.4936G= (p.Gly1646=)
n.5425G=
2g.214978854C>GCA2091350ABCA12c.4927G>C (p.Gly1643Arg)
c.3973G>C (p.Gly1325Arg)
n.5227G>C
c.4936G>C (p.Gly1646Arg)
n.5425G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214978854C>TCA350459687ABCA12c.4927G>A (p.Gly1643Ser)
c.3973G>A (p.Gly1325Ser)
n.5227G>A
c.4936G>A (p.Gly1646Ser)
n.5425G>A
 ClinVar dbSNP
2g.214978855C>ACA350459690ABCA12c.4926G>T (p.Met1642Ile)
c.3972G>T (p.Met1324Ile)
n.5226G>T
c.4935G>T (p.Met1645Ile)
n.5424G>T
 COSMIC COSMIC
2g.214978855C>GCA350459693ABCA12c.4926G>C (p.Met1642Ile)
c.3972G>C (p.Met1324Ile)
n.5226G>C
c.4935G>C (p.Met1645Ile)
n.5424G>C
2g.214978855C>TCA350459695ABCA12c.4926G>A (p.Met1642Ile)
c.3972G>A (p.Met1324Ile)
n.5226G>A
c.4935G>A (p.Met1645Ile)
n.5424G>A
2g.214978856A>CCA350459698ABCA12c.4925T>G (p.Met1642Arg)
c.3971T>G (p.Met1324Arg)
n.5225T>G
c.4934T>G (p.Met1645Arg)
n.5423T>G
2g.214978856A>GCA350459700ABCA12c.4925T>C (p.Met1642Thr)
c.3971T>C (p.Met1324Thr)
n.5225T>C
c.4934T>C (p.Met1645Thr)
n.5423T>C
2g.214978856A>TCA350459705ABCA12c.4925T>A (p.Met1642Lys)
c.3971T>A (p.Met1324Lys)
n.5225T>A
c.4934T>A (p.Met1645Lys)
n.5423T>A

Number of alleles fetched