Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.67521014G>ACA6142484CABP2c.379+11C>T (n.379+11C>T)
c.*164+11C>T (n.*164+11C>T)
c.331+11C>T (n.331+11C>T)
c.208+11C>T (n.208+11C>T)
c.397+11C>T (n.397+11C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67521014G=CA1980194654CABP2c.379+11C= (n.379+11C=)
c.*164+11C= (n.*164+11C=)
c.331+11C= (n.331+11C=)
c.208+11C= (n.208+11C=)
c.397+11C= (n.397+11C=)
11g.67521015A>CCA2614639463CABP2c.379+10T>G (n.379+10T>G)
c.*164+10T>G (n.*164+10T>G)
c.331+10T>G (n.331+10T>G)
c.208+10T>G (n.208+10T>G)
c.397+10T>G (n.397+10T>G)
 gnomAD v4
11g.67521015A>GCA2614639464CABP2c.379+10T>C (n.379+10T>C)
c.*164+10T>C (n.*164+10T>C)
c.331+10T>C (n.331+10T>C)
c.208+10T>C (n.208+10T>C)
c.397+10T>C (n.397+10T>C)
 gnomAD v4
11g.67521016G>ACA679509543CABP2c.379+9C>T (n.379+9C>T)
c.*164+9C>T (n.*164+9C>T)
c.331+9C>T (n.331+9C>T)
c.208+9C>T (n.208+9C>T)
c.397+9C>T (n.397+9C>T)
 dbSNP gnomAD v3 gnomAD v4
11g.67521016G=CA1980194656CABP2c.379+9C= (n.379+9C=)
c.*164+9C= (n.*164+9C=)
c.331+9C= (n.331+9C=)
c.208+9C= (n.208+9C=)
c.397+9C= (n.397+9C=)
11g.67521017G>ACA6142485CABP2c.379+8C>T (n.379+8C>T)
c.*164+8C>T (n.*164+8C>T)
c.331+8C>T (n.331+8C>T)
c.208+8C>T (n.208+8C>T)
c.397+8C>T (n.397+8C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67521017G=CA1980194660CABP2c.379+8C= (n.379+8C=)
c.*164+8C= (n.*164+8C=)
c.331+8C= (n.331+8C=)
c.208+8C= (n.208+8C=)
c.397+8C= (n.397+8C=)
11g.67521021A=CA1980194664CABP2c.379+4T= (n.379+4T=)
c.*164+4T= (n.*164+4T=)
c.331+4T= (n.331+4T=)
c.208+4T= (n.208+4T=)
c.397+4T= (n.397+4T=)
11g.67521021A>GCA6142486CABP2c.379+4T>C (n.379+4T>C)
c.*164+4T>C (n.*164+4T>C)
c.331+4T>C (n.331+4T>C)
c.208+4T>C (n.208+4T>C)
c.397+4T>C (n.397+4T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67521022T>CCA475382582CABP2c.379+3A>G (n.379+3A>G)
c.*164+3A>G (n.*164+3A>G)
c.331+3A>G (n.331+3A>G)
c.208+3A>G (n.208+3A>G)
c.397+3A>G (n.397+3A>G)
 gnomAD v4
11g.67521023A>CCA381515215CABP2c.379+2T>G (n.379+2T>G)
c.*164+2T>G (n.*164+2T>G)
c.331+2T>G (n.331+2T>G)
c.208+2T>G (n.208+2T>G)
c.397+2T>G (n.397+2T>G)
11g.67521023A>GCA381515218CABP2c.379+2T>C (n.379+2T>C)
c.*164+2T>C (n.*164+2T>C)
c.331+2T>C (n.331+2T>C)
c.208+2T>C (n.208+2T>C)
c.397+2T>C (n.397+2T>C)
 gnomAD v4
11g.67521023A>TCA381515222CABP2c.379+2T>A (n.379+2T>A)
c.*164+2T>A (n.*164+2T>A)
c.331+2T>A (n.331+2T>A)
c.208+2T>A (n.208+2T>A)
c.397+2T>A (n.397+2T>A)
11g.67521024C>ACA381515224CABP2c.379+1G>T (n.379+1G>T)
c.*164+1G>T (n.*164+1G>T)
c.331+1G>T (n.331+1G>T)
c.208+1G>T (n.208+1G>T)
c.397+1G>T (n.397+1G>T)
11g.67521024C>GCA381515238CABP2c.379+1G>C (n.379+1G>C)
c.*164+1G>C (n.*164+1G>C)
c.331+1G>C (n.331+1G>C)
c.208+1G>C (n.208+1G>C)
c.397+1G>C (n.397+1G>C)
11g.67521024C>TCA381515227CABP2c.379+1G>A (n.379+1G>A)
c.*164+1G>A (n.*164+1G>A)
c.331+1G>A (n.331+1G>A)
c.208+1G>A (n.208+1G>A)
c.397+1G>A (n.397+1G>A)
 gnomAD v4
11g.67521025T>ACA6142487CABP2c.379A>T (p.Ser127Cys)
c.*164A>T (n.*164A>T)
c.331A>T (p.Ser111Cys)
c.208A>T (p.Ser70Cys)
c.397A>T (p.Ser133Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.67521025T>CCA381515242CABP2c.379A>G (p.Ser127Gly)
c.*164A>G (n.*164A>G)
c.331A>G (p.Ser111Gly)
c.208A>G (p.Ser70Gly)
c.397A>G (p.Ser133Gly)
11g.67521025T>GCA381515243CABP2c.379A>C (p.Ser127Arg)
c.*164A>C (n.*164A>C)
c.331A>C (p.Ser111Arg)
c.208A>C (p.Ser70Arg)
c.397A>C (p.Ser133Arg)
11g.67521025T=CA1980194670CABP2c.379A= (p.Ser127=)
c.*164A= (n.*164A=)
c.331A= (p.Ser111=)
c.208A= (p.Ser70=)
c.397A= (p.Ser133=)
11g.67521026G>ACA475382588CABP2c.378C>T (p.Ile126=)
c.*163C>T (n.*163C>T)
c.330C>T (p.Ile110=)
c.207C>T (p.Ile69=)
c.396C>T (p.Ile132=)
 gnomAD v4
11g.67521026G>CCA381515244CABP2c.378C>G (p.Ile126Met)
c.*163C>G (n.*163C>G)
c.330C>G (p.Ile110Met)
c.207C>G (p.Ile69Met)
c.396C>G (p.Ile132Met)
11g.67521026G>TCA475382590CABP2c.378C>A (p.Ile126=)
c.*163C>A (n.*163C>A)
c.330C>A (p.Ile110=)
c.207C>A (p.Ile69=)
c.396C>A (p.Ile132=)
11g.67521027A=CA1980194679CABP2c.377T= (p.Ile126=)
c.*162T= (n.*162T=)
c.329T= (p.Ile110=)
c.206T= (p.Ile69=)
c.395T= (p.Ile132=)
11g.67521027A>CCA381515245CABP2c.377T>G (p.Ile126Ser)
c.*162T>G (n.*162T>G)
c.329T>G (p.Ile110Ser)
c.206T>G (p.Ile69Ser)
c.395T>G (p.Ile132Ser)
11g.67521027A>GCA381515249CABP2c.377T>C (p.Ile126Thr)
c.*162T>C (n.*162T>C)
c.329T>C (p.Ile110Thr)
c.206T>C (p.Ile69Thr)
c.395T>C (p.Ile132Thr)
 dbSNP gnomAD v3 gnomAD v4
11g.67521027A>TCA381515246CABP2c.377T>A (p.Ile126Asn)
c.*162T>A (n.*162T>A)
c.329T>A (p.Ile110Asn)
c.206T>A (p.Ile69Asn)
c.395T>A (p.Ile132Asn)
11g.67521028T>ACA381515251CABP2c.376A>T (p.Ile126Phe)
c.*161A>T (n.*161A>T)
c.328A>T (p.Ile110Phe)
c.205A>T (p.Ile69Phe)
c.394A>T (p.Ile132Phe)
11g.67521028T>CCA381515253CABP2c.376A>G (p.Ile126Val)
c.*161A>G (n.*161A>G)
c.328A>G (p.Ile110Val)
c.205A>G (p.Ile69Val)
c.394A>G (p.Ile132Val)
11g.67521028T>GCA381515255CABP2c.376A>C (p.Ile126Leu)
c.*161A>C (n.*161A>C)
c.328A>C (p.Ile110Leu)
c.205A>C (p.Ile69Leu)
c.394A>C (p.Ile132Leu)
11g.67521029T>ACA381515256CABP2c.375A>T (p.Gln125His)
c.*160A>T (n.*160A>T)
c.327A>T (p.Gln109His)
c.204A>T (p.Gln68His)
c.393A>T (p.Gln131His)
11g.67521029T>CCA475382598CABP2c.375A>G (p.Gln125=)
c.*160A>G (n.*160A>G)
c.327A>G (p.Gln109=)
c.204A>G (p.Gln68=)
c.393A>G (p.Gln131=)
11g.67521029T>GCA381515257CABP2c.375A>C (p.Gln125His)
c.*160A>C (n.*160A>C)
c.327A>C (p.Gln109His)
c.204A>C (p.Gln68His)
c.393A>C (p.Gln131His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.67521029T=CA1980194687CABP2c.375A= (p.Gln125=)
c.*160A= (n.*160A=)
c.327A= (p.Gln109=)
c.204A= (p.Gln68=)
c.393A= (p.Gln131=)
11g.67521030T>ACA381515259CABP2c.374A>T (p.Gln125Leu)
c.*159A>T (n.*159A>T)
c.326A>T (p.Gln109Leu)
c.203A>T (p.Gln68Leu)
c.392A>T (p.Gln131Leu)
11g.67521030T>CCA381515261CABP2c.374A>G (p.Gln125Arg)
c.*159A>G (n.*159A>G)
c.326A>G (p.Gln109Arg)
c.203A>G (p.Gln68Arg)
c.392A>G (p.Gln131Arg)
11g.67521030T>GCA381515266CABP2c.374A>C (p.Gln125Pro)
c.*159A>C (n.*159A>C)
c.326A>C (p.Gln109Pro)
c.203A>C (p.Gln68Pro)
c.392A>C (p.Gln131Pro)
11g.67521031G>ACA381515271CABP2c.373C>T (p.Gln125Ter)
c.*158C>T (n.*158C>T)
c.325C>T (p.Gln109Ter)
c.202C>T (p.Gln68Ter)
c.391C>T (p.Gln131Ter)
11g.67521031G>CCA381515272CABP2c.373C>G (p.Gln125Glu)
c.*158C>G (n.*158C>G)
c.325C>G (p.Gln109Glu)
c.202C>G (p.Gln68Glu)
c.391C>G (p.Gln131Glu)
11g.67521031G>TCA381515274CABP2c.373C>A (p.Gln125Lys)
c.*158C>A (n.*158C>A)
c.325C>A (p.Gln109Lys)
c.202C>A (p.Gln68Lys)
c.391C>A (p.Gln131Lys)
11g.67521032T>ACA381515278CABP2c.372A>T (p.Gln124His)
c.*157A>T (n.*157A>T)
c.324A>T (p.Gln108His)
c.201A>T (p.Gln67His)
c.390A>T (p.Gln130His)
11g.67521032T>CCA6142488CABP2c.372A>G (p.Gln124=)
c.*157A>G (n.*157A>G)
c.324A>G (p.Gln108=)
c.201A>G (p.Gln67=)
c.390A>G (p.Gln130=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67521032T>GCA381515281CABP2c.372A>C (p.Gln124His)
c.*157A>C (n.*157A>C)
c.324A>C (p.Gln108His)
c.201A>C (p.Gln67His)
c.390A>C (p.Gln130His)
11g.67521032T=CA1980194695CABP2c.372A= (p.Gln124=)
c.*157A= (n.*157A=)
c.324A= (p.Gln108=)
c.201A= (p.Gln67=)
c.390A= (p.Gln130=)
11g.67521033T>ACA381515286CABP2c.371A>T (p.Gln124Leu)
c.*156A>T (n.*156A>T)
c.323A>T (p.Gln108Leu)
c.200A>T (p.Gln67Leu)
c.389A>T (p.Gln130Leu)
11g.67521033T>CCA381515288CABP2c.371A>G (p.Gln124Arg)
c.*156A>G (n.*156A>G)
c.323A>G (p.Gln108Arg)
c.200A>G (p.Gln67Arg)
c.389A>G (p.Gln130Arg)
11g.67521033T>GCA381515287CABP2c.371A>C (p.Gln124Pro)
c.*156A>C (n.*156A>C)
c.323A>C (p.Gln108Pro)
c.200A>C (p.Gln67Pro)
c.389A>C (p.Gln130Pro)
11g.67521034G>ACA6142489CABP2c.370C>T (p.Gln124Ter)
c.*155C>T (n.*155C>T)
c.322C>T (p.Gln108Ter)
c.199C>T (p.Gln67Ter)
c.388C>T (p.Gln130Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.67521034G>CCA381515293CABP2c.370C>G (p.Gln124Glu)
c.*155C>G (n.*155C>G)
c.322C>G (p.Gln108Glu)
c.199C>G (p.Gln67Glu)
c.388C>G (p.Gln130Glu)
11g.67521034G=CA1980194701CABP2c.370C= (p.Gln124=)
c.*155C= (n.*155C=)
c.322C= (p.Gln108=)
c.199C= (p.Gln67=)
c.388C= (p.Gln130=)
11g.67521034G>TCA381515299CABP2c.370C>A (p.Gln124Lys)
c.*155C>A (n.*155C>A)
c.322C>A (p.Gln108Lys)
c.199C>A (p.Gln67Lys)
c.388C>A (p.Gln130Lys)
 COSMIC
11g.67521035T>ACA475382607CABP2c.369A>T (p.Ser123=)
c.*154A>T (n.*154A>T)
c.321A>T (p.Ser107=)
c.198A>T (p.Ser66=)
c.387A>T (p.Ser129=)
11g.67521035T>CCA475382606CABP2c.369A>G (p.Ser123=)
c.*154A>G (n.*154A>G)
c.321A>G (p.Ser107=)
c.198A>G (p.Ser66=)
c.387A>G (p.Ser129=)
 dbSNP gnomAD v4
11g.67521035T>GCA475382605CABP2c.369A>C (p.Ser123=)
c.*154A>C (n.*154A>C)
c.321A>C (p.Ser107=)
c.198A>C (p.Ser66=)
c.387A>C (p.Ser129=)
11g.67521035T=CA1980194706CABP2c.369A= (p.Ser123=)
c.*154A= (n.*154A=)
c.321A= (p.Ser107=)
c.198A= (p.Ser66=)
c.387A= (p.Ser129=)
11g.67521036G>ACA381515302CABP2c.368C>T (p.Ser123Leu)
c.*153C>T (n.*153C>T)
c.320C>T (p.Ser107Leu)
c.197C>T (p.Ser66Leu)
c.386C>T (p.Ser129Leu)
11g.67521036G>CCA381515305CABP2c.368C>G (p.Ser123Ter)
c.*153C>G (n.*153C>G)
c.320C>G (p.Ser107Ter)
c.197C>G (p.Ser66Ter)
c.386C>G (p.Ser129Ter)
11g.67521036G>TCA381515308CABP2c.368C>A (p.Ser123Ter)
c.*153C>A (n.*153C>A)
c.320C>A (p.Ser107Ter)
c.197C>A (p.Ser66Ter)
c.386C>A (p.Ser129Ter)
11g.67521037A>CCA381515315CABP2c.367T>G (p.Ser123Ala)
c.*152T>G (n.*152T>G)
c.319T>G (p.Ser107Ala)
c.196T>G (p.Ser66Ala)
c.385T>G (p.Ser129Ala)
11g.67521037A>GCA381515318CABP2c.367T>C (p.Ser123Pro)
c.*152T>C (n.*152T>C)
c.319T>C (p.Ser107Pro)
c.196T>C (p.Ser66Pro)
c.385T>C (p.Ser129Pro)
11g.67521037A>TCA381515320CABP2c.367T>A (p.Ser123Thr)
c.*152T>A (n.*152T>A)
c.319T>A (p.Ser107Thr)
c.196T>A (p.Ser66Thr)
c.385T>A (p.Ser129Thr)
11g.67521038G>ACA475382615CABP2c.366C>T (p.Ile122=)
c.*151C>T (n.*151C>T)
c.318C>T (p.Ile106=)
c.195C>T (p.Ile65=)
c.384C>T (p.Ile128=)
11g.67521038G>CCA381515322CABP2c.366C>G (p.Ile122Met)
c.*151C>G (n.*151C>G)
c.318C>G (p.Ile106Met)
c.195C>G (p.Ile65Met)
c.384C>G (p.Ile128Met)
11g.67521038G>TCA475382617CABP2c.366C>A (p.Ile122=)
c.*151C>A (n.*151C>A)
c.318C>A (p.Ile106=)
c.195C>A (p.Ile65=)
c.384C>A (p.Ile128=)
 gnomAD v4
11g.67521039A>CCA381515323CABP2c.365T>G (p.Ile122Ser)
c.*150T>G (n.*150T>G)
c.317T>G (p.Ile106Ser)
c.194T>G (p.Ile65Ser)
c.383T>G (p.Ile128Ser)
11g.67521039A>GCA381515324CABP2c.365T>C (p.Ile122Thr)
c.*150T>C (n.*150T>C)
c.317T>C (p.Ile106Thr)
c.194T>C (p.Ile65Thr)
c.383T>C (p.Ile128Thr)
11g.67521039A>TCA381515325CABP2c.365T>A (p.Ile122Asn)
c.*150T>A (n.*150T>A)
c.317T>A (p.Ile106Asn)
c.194T>A (p.Ile65Asn)
c.383T>A (p.Ile128Asn)
11g.67521040T>ACA381515326CABP2c.364A>T (p.Ile122Phe)
c.*149A>T (n.*149A>T)
c.316A>T (p.Ile106Phe)
c.193A>T (p.Ile65Phe)
c.382A>T (p.Ile128Phe)
11g.67521040T>CCA224145198CABP2c.364A>G (p.Ile122Val)
c.*149A>G (n.*149A>G)
c.316A>G (p.Ile106Val)
c.193A>G (p.Ile65Val)
c.382A>G (p.Ile128Val)
 dbSNP COSMIC
11g.67521040T>GCA381515329CABP2c.364A>C (p.Ile122Leu)
c.*149A>C (n.*149A>C)
c.316A>C (p.Ile106Leu)
c.193A>C (p.Ile65Leu)
c.382A>C (p.Ile128Leu)
11g.67521040T=CA1980194714CABP2c.364A= (p.Ile122=)
c.*149A= (n.*149A=)
c.316A= (p.Ile106=)
c.193A= (p.Ile65=)
c.382A= (p.Ile128=)
11g.67521041C>ACA381515337CABP2c.363G>T (p.Glu121Asp)
c.*148G>T (n.*148G>T)
c.315G>T (p.Glu105Asp)
c.192G>T (p.Glu64Asp)
c.381G>T (p.Glu127Asp)
 gnomAD v4
11g.67521041C>GCA381515342CABP2c.363G>C (p.Glu121Asp)
c.*148G>C (n.*148G>C)
c.315G>C (p.Glu105Asp)
c.192G>C (p.Glu64Asp)
c.381G>C (p.Glu127Asp)
 gnomAD v4
11g.67521041C>TCA475382624CABP2c.363G>A (p.Glu121=)
c.*148G>A (n.*148G>A)
c.315G>A (p.Glu105=)
c.192G>A (p.Glu64=)
c.381G>A (p.Glu127=)
 COSMIC
11g.67521042T>ACA381515347CABP2c.362A>T (p.Glu121Val)
c.*147A>T (n.*147A>T)
c.314A>T (p.Glu105Val)
c.191A>T (p.Glu64Val)
c.380A>T (p.Glu127Val)
11g.67521042T>CCA381515354CABP2c.362A>G (p.Glu121Gly)
c.*147A>G (n.*147A>G)
c.314A>G (p.Glu105Gly)
c.191A>G (p.Glu64Gly)
c.380A>G (p.Glu127Gly)
11g.67521042T>GCA381515362CABP2c.362A>C (p.Glu121Ala)
c.*147A>C (n.*147A>C)
c.314A>C (p.Glu105Ala)
c.191A>C (p.Glu64Ala)
c.380A>C (p.Glu127Ala)
11g.67521043C>ACA381515364CABP2c.361G>T (p.Glu121Ter)
c.*146G>T (n.*146G>T)
c.313G>T (p.Glu105Ter)
c.190G>T (p.Glu64Ter)
c.379G>T (p.Glu127Ter)
11g.67521043C=CA1980194724CABP2c.361G= (p.Glu121=)
c.*146G= (n.*146G=)
c.313G= (p.Glu105=)
c.190G= (p.Glu64=)
c.379G= (p.Glu127=)
11g.67521043C>GCA381515369CABP2c.361G>C (p.Glu121Gln)
c.*146G>C (n.*146G>C)
c.313G>C (p.Glu105Gln)
c.190G>C (p.Glu64Gln)
c.379G>C (p.Glu127Gln)
11g.67521043C>TCA6142490CABP2c.361G>A (p.Glu121Lys)
c.*146G>A (n.*146G>A)
c.313G>A (p.Glu105Lys)
c.190G>A (p.Glu64Lys)
c.379G>A (p.Glu127Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67521044G>ACA475382631CABP2c.360C>T (p.Ile120=)
c.*145C>T (n.*145C>T)
c.312C>T (p.Ile104=)
c.189C>T (p.Ile63=)
c.378C>T (p.Ile126=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.67521044G>CCA381515374CABP2c.360C>G (p.Ile120Met)
c.*145C>G (n.*145C>G)
c.312C>G (p.Ile104Met)
c.189C>G (p.Ile63Met)
c.378C>G (p.Ile126Met)
11g.67521044G=CA1980194729CABP2c.360C= (p.Ile120=)
c.*145C= (n.*145C=)
c.312C= (p.Ile104=)
c.189C= (p.Ile63=)
c.378C= (p.Ile126=)
11g.67521044G>TCA475382635CABP2c.360C>A (p.Ile120=)
c.*145C>A (n.*145C>A)
c.312C>A (p.Ile104=)
c.189C>A (p.Ile63=)
c.378C>A (p.Ile126=)
11g.67521045A>CCA381515390CABP2c.359T>G (p.Ile120Ser)
c.*144T>G (n.*144T>G)
c.311T>G (p.Ile104Ser)
c.188T>G (p.Ile63Ser)
c.377T>G (p.Ile126Ser)
11g.67521045A>GCA381515385CABP2c.359T>C (p.Ile120Thr)
c.*144T>C (n.*144T>C)
c.311T>C (p.Ile104Thr)
c.188T>C (p.Ile63Thr)
c.377T>C (p.Ile126Thr)
11g.67521045A>TCA381515380CABP2c.359T>A (p.Ile120Asn)
c.*144T>A (n.*144T>A)
c.311T>A (p.Ile104Asn)
c.188T>A (p.Ile63Asn)
c.377T>A (p.Ile126Asn)
11g.67521046T>ACA381515395CABP2c.358A>T (p.Ile120Phe)
c.*143A>T (n.*143A>T)
c.310A>T (p.Ile104Phe)
c.187A>T (p.Ile63Phe)
c.376A>T (p.Ile126Phe)
11g.67521046T>CCA381515396CABP2c.358A>G (p.Ile120Val)
c.*143A>G (n.*143A>G)
c.310A>G (p.Ile104Val)
c.187A>G (p.Ile63Val)
c.376A>G (p.Ile126Val)
11g.67521046T>GCA381515397CABP2c.358A>C (p.Ile120Leu)
c.*143A>C (n.*143A>C)
c.310A>C (p.Ile104Leu)
c.187A>C (p.Ile63Leu)
c.376A>C (p.Ile126Leu)
11g.67521047G>ACA6142491CABP2c.357C>T (p.Leu119=)
c.*142C>T (n.*142C>T)
c.309C>T (p.Leu103=)
c.186C>T (p.Leu62=)
c.375C>T (p.Leu125=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67521047G>CCA475382644CABP2c.357C>G (p.Leu119=)
c.*142C>G (n.*142C>G)
c.309C>G (p.Leu103=)
c.186C>G (p.Leu62=)
c.375C>G (p.Leu125=)
 dbSNP gnomAD v4
11g.67521047G=CA1980194732CABP2c.357C= (p.Leu119=)
c.*142C= (n.*142C=)
c.309C= (p.Leu103=)
c.186C= (p.Leu62=)
c.375C= (p.Leu125=)
11g.67521047G>TCA475382642CABP2c.357C>A (p.Leu119=)
c.*142C>A (n.*142C>A)
c.309C>A (p.Leu103=)
c.186C>A (p.Leu62=)
c.375C>A (p.Leu125=)
 dbSNP gnomAD v2 gnomAD v4
11g.67521048A=CA1980194742CABP2c.356T= (p.Leu119=)
c.*141T= (n.*141T=)
c.308T= (p.Leu103=)
c.185T= (p.Leu62=)
c.374T= (p.Leu125=)
11g.67521048A>CCA381515400CABP2c.356T>G (p.Leu119Arg)
c.*141T>G (n.*141T>G)
c.308T>G (p.Leu103Arg)
c.185T>G (p.Leu62Arg)
c.374T>G (p.Leu125Arg)
11g.67521048A>GCA224145201CABP2c.356T>C (p.Leu119Pro)
c.*141T>C (n.*141T>C)
c.308T>C (p.Leu103Pro)
c.185T>C (p.Leu62Pro)
c.374T>C (p.Leu125Pro)
 dbSNP gnomAD v4
11g.67521048A>TCA381515403CABP2c.356T>A (p.Leu119His)
c.*141T>A (n.*141T>A)
c.308T>A (p.Leu103His)
c.185T>A (p.Leu62His)
c.374T>A (p.Leu125His)
11g.67521049G>ACA6142492CABP2c.355C>T (p.Leu119Phe)
c.*140C>T (n.*140C>T)
c.307C>T (p.Leu103Phe)
c.184C>T (p.Leu62Phe)
c.373C>T (p.Leu125Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67521049G>CCA381515404CABP2c.355C>G (p.Leu119Val)
c.*140C>G (n.*140C>G)
c.307C>G (p.Leu103Val)
c.184C>G (p.Leu62Val)
c.373C>G (p.Leu125Val)
 gnomAD v4
11g.67521049G=CA1980194754CABP2c.355C= (p.Leu119=)
c.*140C= (n.*140C=)
c.307C= (p.Leu103=)
c.184C= (p.Leu62=)
c.373C= (p.Leu125=)
11g.67521049G>TCA381515405CABP2c.355C>A (p.Leu119Ile)
c.*140C>A (n.*140C>A)
c.307C>A (p.Leu103Ile)
c.184C>A (p.Leu62Ile)
c.373C>A (p.Leu125Ile)
11g.67521050C>ACA381515408CABP2c.354G>T (p.Glu118Asp)
c.*139G>T (n.*139G>T)
c.306G>T (p.Glu102Asp)
c.183G>T (p.Glu61Asp)
c.372G>T (p.Glu124Asp)
11g.67521050C>GCA381515420CABP2c.354G>C (p.Glu118Asp)
c.*139G>C (n.*139G>C)
c.306G>C (p.Glu102Asp)
c.183G>C (p.Glu61Asp)
c.372G>C (p.Glu124Asp)
11g.67521050C>TCA475382649CABP2c.354G>A (p.Glu118=)
c.*139G>A (n.*139G>A)
c.306G>A (p.Glu102=)
c.183G>A (p.Glu61=)
c.372G>A (p.Glu124=)
 gnomAD v4
11g.67521051T>ACA381515434CABP2c.353A>T (p.Glu118Val)
c.*138A>T (n.*138A>T)
c.305A>T (p.Glu102Val)
c.182A>T (p.Glu61Val)
c.371A>T (p.Glu124Val)
11g.67521051T>CCA381515428CABP2c.353A>G (p.Glu118Gly)
c.*138A>G (n.*138A>G)
c.305A>G (p.Glu102Gly)
c.182A>G (p.Glu61Gly)
c.371A>G (p.Glu124Gly)
11g.67521051T>GCA381515433CABP2c.353A>C (p.Glu118Ala)
c.*138A>C (n.*138A>C)
c.305A>C (p.Glu102Ala)
c.182A>C (p.Glu61Ala)
c.371A>C (p.Glu124Ala)
 gnomAD v4
11g.67521052C>ACA381515437CABP2c.352G>T (p.Glu118Ter)
c.*137G>T (n.*137G>T)
c.304G>T (p.Glu102Ter)
c.181G>T (p.Glu61Ter)
c.370G>T (p.Glu124Ter)
11g.67521052C>GCA381515439CABP2c.352G>C (p.Glu118Gln)
c.*137G>C (n.*137G>C)
c.304G>C (p.Glu102Gln)
c.181G>C (p.Glu61Gln)
c.370G>C (p.Glu124Gln)
11g.67521052C>TCA381515442CABP2c.352G>A (p.Glu118Lys)
c.*137G>A (n.*137G>A)
c.304G>A (p.Glu102Lys)
c.181G>A (p.Glu61Lys)
c.370G>A (p.Glu124Lys)
11g.67521053C>ACA381515445CABP2c.351G>T (p.Met117Ile)
c.*136G>T (n.*136G>T)
c.303G>T (p.Met101Ile)
c.180G>T (p.Met60Ile)
c.369G>T (p.Met123Ile)
11g.67521053C>GCA381515450CABP2c.351G>C (p.Met117Ile)
c.*136G>C (n.*136G>C)
c.303G>C (p.Met101Ile)
c.180G>C (p.Met60Ile)
c.369G>C (p.Met123Ile)
11g.67521053C>TCA381515453CABP2c.351G>A (p.Met117Ile)
c.*136G>A (n.*136G>A)
c.303G>A (p.Met101Ile)
c.180G>A (p.Met60Ile)
c.369G>A (p.Met123Ile)
11g.67521054A=CA1980194758CABP2c.350T= (p.Met117=)
c.*135T= (n.*135T=)
c.302T= (p.Met101=)
c.179T= (p.Met60=)
c.368T= (p.Met123=)
11g.67521054A>CCA381515457CABP2c.350T>G (p.Met117Arg)
c.*135T>G (n.*135T>G)
c.302T>G (p.Met101Arg)
c.179T>G (p.Met60Arg)
c.368T>G (p.Met123Arg)
11g.67521054A>GCA381515458CABP2c.350T>C (p.Met117Thr)
c.*135T>C (n.*135T>C)
c.302T>C (p.Met101Thr)
c.179T>C (p.Met60Thr)
c.368T>C (p.Met123Thr)
 dbSNP
11g.67521054A>TCA381515459CABP2c.350T>A (p.Met117Lys)
c.*135T>A (n.*135T>A)
c.302T>A (p.Met101Lys)
c.179T>A (p.Met60Lys)
c.368T>A (p.Met123Lys)
 dbSNP gnomAD v2 gnomAD v4
11g.67521055T>ACA381515462CABP2c.349A>T (p.Met117Leu)
c.*134A>T (n.*134A>T)
c.301A>T (p.Met101Leu)
c.178A>T (p.Met60Leu)
c.367A>T (p.Met123Leu)
11g.67521055T>CCA381515465CABP2c.349A>G (p.Met117Val)
c.*134A>G (n.*134A>G)
c.301A>G (p.Met101Val)
c.178A>G (p.Met60Val)
c.367A>G (p.Met123Val)
 gnomAD v4
11g.67521055T>GCA381515466CABP2c.349A>C (p.Met117Leu)
c.*134A>C (n.*134A>C)
c.301A>C (p.Met101Leu)
c.178A>C (p.Met60Leu)
c.367A>C (p.Met123Leu)
11g.67521056C>ACA381515468CABP2c.348G>T (p.Glu116Asp)
c.*133G>T (n.*133G>T)
c.300G>T (p.Glu100Asp)
c.177G>T (p.Glu59Asp)
c.366G>T (p.Glu122Asp)
11g.67521056C>GCA381515467CABP2c.348G>C (p.Glu116Asp)
c.*133G>C (n.*133G>C)
c.300G>C (p.Glu100Asp)
c.177G>C (p.Glu59Asp)
c.366G>C (p.Glu122Asp)
11g.67521056C>TCA475382658CABP2c.348G>A (p.Glu116=)
c.*133G>A (n.*133G>A)
c.300G>A (p.Glu100=)
c.177G>A (p.Glu59=)
c.366G>A (p.Glu122=)
11g.67521057T>ACA381515469CABP2c.347A>T (p.Glu116Val)
c.*132A>T (n.*132A>T)
c.299A>T (p.Glu100Val)
c.176A>T (p.Glu59Val)
c.365A>T (p.Glu122Val)
11g.67521057T>CCA381515478CABP2c.347A>G (p.Glu116Gly)
c.*132A>G (n.*132A>G)
c.299A>G (p.Glu100Gly)
c.176A>G (p.Glu59Gly)
c.365A>G (p.Glu122Gly)
11g.67521057T>GCA381515473CABP2c.347A>C (p.Glu116Ala)
c.*132A>C (n.*132A>C)
c.299A>C (p.Glu100Ala)
c.176A>C (p.Glu59Ala)
c.365A>C (p.Glu122Ala)
11g.67521058C>ACA381515482CABP2c.346G>T (p.Glu116Ter)
c.*131G>T (n.*131G>T)
c.298G>T (p.Glu100Ter)
c.175G>T (p.Glu59Ter)
c.364G>T (p.Glu122Ter)
11g.67521058C=CA1980194787CABP2c.346G= (p.Glu116=)
c.*131G= (n.*131G=)
c.298G= (p.Glu100=)
c.175G= (p.Glu59=)
c.364G= (p.Glu122=)
11g.67521058C>GCA381515484CABP2c.346G>C (p.Glu116Gln)
c.*131G>C (n.*131G>C)
c.298G>C (p.Glu100Gln)
c.175G>C (p.Glu59Gln)
c.364G>C (p.Glu122Gln)
11g.67521058C>TCA6142493CABP2c.346G>A (p.Glu116Lys)
c.*131G>A (n.*131G>A)
c.298G>A (p.Glu100Lys)
c.175G>A (p.Glu59Lys)
c.364G>A (p.Glu122Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.67521059G>ACA6142495CABP2c.345C>T (p.Thr115=)
c.*130C>T (n.*130C>T)
c.297C>T (p.Thr99=)
c.174C>T (p.Thr58=)
c.363C>T (p.Thr121=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.67521059G>CCA475382665CABP2c.345C>G (p.Thr115=)
c.*130C>G (n.*130C>G)
c.297C>G (p.Thr99=)
c.174C>G (p.Thr58=)
c.363C>G (p.Thr121=)
11g.67521059G=CA1980194800CABP2c.345C= (p.Thr115=)
c.*130C= (n.*130C=)
c.297C= (p.Thr99=)
c.174C= (p.Thr58=)
c.363C= (p.Thr121=)
11g.67521059G>TCA6142494CABP2c.345C>A (p.Thr115=)
c.*130C>A (n.*130C>A)
c.297C>A (p.Thr99=)
c.174C>A (p.Thr58=)
c.363C>A (p.Thr121=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67521060G>ACA381515495CABP2c.344C>T (p.Thr115Ile)
c.*129C>T (n.*129C>T)
c.296C>T (p.Thr99Ile)
c.173C>T (p.Thr58Ile)
c.362C>T (p.Thr121Ile)
11g.67521060G>CCA381515497CABP2c.344C>G (p.Thr115Ser)
c.*129C>G (n.*129C>G)
c.296C>G (p.Thr99Ser)
c.173C>G (p.Thr58Ser)
c.362C>G (p.Thr121Ser)
11g.67521060G=CA1980194805CABP2c.344C= (p.Thr115=)
c.*129C= (n.*129C=)
c.296C= (p.Thr99=)
c.173C= (p.Thr58=)
c.362C= (p.Thr121=)
11g.67521060G>TCA224145208CABP2c.344C>A (p.Thr115Asn)
c.*129C>A (n.*129C>A)
c.296C>A (p.Thr99Asn)
c.173C>A (p.Thr58Asn)
c.362C>A (p.Thr121Asn)
 dbSNP gnomAD v2 gnomAD v4
11g.67521061T>ACA381515506CABP2c.343A>T (p.Thr115Ser)
c.*128A>T (n.*128A>T)
c.295A>T (p.Thr99Ser)
c.172A>T (p.Thr58Ser)
c.361A>T (p.Thr121Ser)
 dbSNP
11g.67521061T>CCA381515509CABP2c.343A>G (p.Thr115Ala)
c.*128A>G (n.*128A>G)
c.295A>G (p.Thr99Ala)
c.172A>G (p.Thr58Ala)
c.361A>G (p.Thr121Ala)
11g.67521061T>GCA381515512CABP2c.343A>C (p.Thr115Pro)
c.*128A>C (n.*128A>C)
c.295A>C (p.Thr99Pro)
c.172A>C (p.Thr58Pro)
c.361A>C (p.Thr121Pro)
11g.67521061T=CA1980194808CABP2c.343A= (p.Thr115=)
c.*128A= (n.*128A=)
c.295A= (p.Thr99=)
c.172A= (p.Thr58=)
c.361A= (p.Thr121=)
11g.67521062G>ACA475382670CABP2c.342C>T (p.Pro114=)
c.*127C>T (n.*127C>T)
c.294C>T (p.Pro98=)
c.171C>T (p.Pro57=)
c.360C>T (p.Pro120=)
11g.67521062G>CCA475382671CABP2c.342C>G (p.Pro114=)
c.*127C>G (n.*127C>G)
c.294C>G (p.Pro98=)
c.171C>G (p.Pro57=)
c.360C>G (p.Pro120=)
11g.67521062G>TCA475382672CABP2c.342C>A (p.Pro114=)
c.*127C>A (n.*127C>A)
c.294C>A (p.Pro98=)
c.171C>A (p.Pro57=)
c.360C>A (p.Pro120=)
 gnomAD v4
11g.67521063G>ACA224145210CABP2c.341C>T (p.Pro114Leu)
c.*126C>T (n.*126C>T)
c.293C>T (p.Pro98Leu)
c.170C>T (p.Pro57Leu)
c.359C>T (p.Pro120Leu)
 dbSNP
11g.67521063G>CCA381515526CABP2c.341C>G (p.Pro114Arg)
c.*126C>G (n.*126C>G)
c.293C>G (p.Pro98Arg)
c.170C>G (p.Pro57Arg)
c.359C>G (p.Pro120Arg)
11g.67521063G=CA1980194811CABP2c.341C= (p.Pro114=)
c.*126C= (n.*126C=)
c.293C= (p.Pro98=)
c.170C= (p.Pro57=)
c.359C= (p.Pro120=)
11g.67521063G>TCA381515517CABP2c.341C>A (p.Pro114His)
c.*126C>A (n.*126C>A)
c.293C>A (p.Pro98His)
c.170C>A (p.Pro57His)
c.359C>A (p.Pro120His)
11g.67521064_67521068delCA2614639553CABP2c.337_341del (p.Met113HisfsTer20)
c.*122_*126del (n.*122_*126del)
c.289_293del (p.Met97HisfsTer20)
c.166_170del (p.Met56HisfsTer20)
c.355_359del (p.Met119HisfsTer20)
 gnomAD v4
11g.67521063_67521064insTCCA939062897CABP2c.340_341insGA (p.Pro114ArgfsTer27)
c.*125_*126insGA (n.*125_*126insGA)
c.292_293insGA (p.Pro98ArgfsTer27)
c.169_170insGA (p.Pro57ArgfsTer27)
c.358_359insGA (p.Pro120ArgfsTer27)
 gnomAD v3 gnomAD v4
11g.67521064G>ACA6142496CABP2c.340C>T (p.Pro114Ser)
c.*125C>T (n.*125C>T)
c.292C>T (p.Pro98Ser)
c.169C>T (p.Pro57Ser)
c.358C>T (p.Pro120Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.67521064G>CCA381515542CABP2c.340C>G (p.Pro114Ala)
c.*125C>G (n.*125C>G)
c.292C>G (p.Pro98Ala)
c.169C>G (p.Pro57Ala)
c.358C>G (p.Pro120Ala)
11g.67521064G=CA1980194822CABP2c.340C= (p.Pro114=)
c.*125C= (n.*125C=)
c.292C= (p.Pro98=)
c.169C= (p.Pro57=)
c.358C= (p.Pro120=)
11g.67521064G>TCA381515557CABP2c.340C>A (p.Pro114Thr)
c.*125C>A (n.*125C>A)
c.292C>A (p.Pro98Thr)
c.169C>A (p.Pro57Thr)
c.358C>A (p.Pro120Thr)
 gnomAD v3 gnomAD v4
11g.67521065C>ACA381515573CABP2c.339G>T (p.Met113Ile)
c.*124G>T (n.*124G>T)
c.291G>T (p.Met97Ile)
c.168G>T (p.Met56Ile)
c.357G>T (p.Met119Ile)
11g.67521065C=CA1980194826CABP2c.339G= (p.Met113=)
c.*124G= (n.*124G=)
c.291G= (p.Met97=)
c.168G= (p.Met56=)
c.357G= (p.Met119=)
11g.67521065C>GCA6142498CABP2c.339G>C (p.Met113Ile)
c.*124G>C (n.*124G>C)
c.291G>C (p.Met97Ile)
c.168G>C (p.Met56Ile)
c.357G>C (p.Met119Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67521065C>TCA6142497CABP2c.339G>A (p.Met113Ile)
c.*124G>A (n.*124G>A)
c.291G>A (p.Met97Ile)
c.168G>A (p.Met56Ile)
c.357G>A (p.Met119Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.67521065_67521066insCGTATCATTAACA2792513370CABP2c.338_339insTTAATGATACG (p.Met113IlefsTer2)
c.*123_*124insTTAATGATACG (n.*123_*124insTTAATGATACG)
c.290_291insTTAATGATACG (p.Met97IlefsTer2)
c.167_168insTTAATGATACG (p.Met56IlefsTer2)
c.356_357insTTAATGATACG (p.Met119IlefsTer2)
11g.67521065_67521066insCGTATCATTAAACA939062898CABP2c.338_339insTTTAATGATACG (p.Met113delinsIleLeuMetIleArg)
c.*123_*124insTTTAATGATACG (n.*123_*124insTTTAATGATACG)
c.290_291insTTTAATGATACG (p.Met97delinsIleLeuMetIleArg)
c.167_168insTTTAATGATACG (p.Met56delinsIleLeuMetIleArg)
c.356_357insTTTAATGATACG (p.Met119delinsIleLeuMetIleArg)
 gnomAD v3 gnomAD v4
11g.67521065_67521066insCGTATCATTAAAACA2792513369CABP2c.338_339insTTTTAATGATACG (p.Met113IlefsTer26)
c.*123_*124insTTTTAATGATACG (n.*123_*124insTTTTAATGATACG)
c.290_291insTTTTAATGATACG (p.Met97IlefsTer26)
c.167_168insTTTTAATGATACG (p.Met56IlefsTer26)
c.356_357insTTTTAATGATACG (p.Met119IlefsTer26)
11g.67521065_67521066insCGTATCATTAAAAACA2598398154CABP2c.338_339insTTTTTAATGATACG (p.Met113IlefsTer3)
c.*123_*124insTTTTTAATGATACG (n.*123_*124insTTTTTAATGATACG)
c.290_291insTTTTTAATGATACG (p.Met97IlefsTer3)
c.167_168insTTTTTAATGATACG (p.Met56IlefsTer3)
c.356_357insTTTTTAATGATACG (p.Met119IlefsTer3)
 gnomAD v3 gnomAD v4
11g.67521066A>CCA381515581CABP2c.338T>G (p.Met113Arg)
c.*123T>G (n.*123T>G)
c.290T>G (p.Met97Arg)
c.167T>G (p.Met56Arg)
c.356T>G (p.Met119Arg)
11g.67521066A>GCA381515585CABP2c.338T>C (p.Met113Thr)
c.*123T>C (n.*123T>C)
c.290T>C (p.Met97Thr)
c.167T>C (p.Met56Thr)
c.356T>C (p.Met119Thr)
 gnomAD v4
11g.67521066A>TCA381515589CABP2c.338T>A (p.Met113Lys)
c.*123T>A (n.*123T>A)
c.290T>A (p.Met97Lys)
c.167T>A (p.Met56Lys)
c.356T>A (p.Met119Lys)
11g.67521066_67521067delCA939062899CABP2c.337_338del (p.Met113AlafsTer21)
c.*122_*123del (n.*122_*123del)
c.289_290del (p.Met97AlafsTer21)
c.166_167del (p.Met56AlafsTer21)
c.355_356del (p.Met119AlafsTer21)
 gnomAD v3 gnomAD v4
11g.67521067T>ACA381515592CABP2c.337A>T (p.Met113Leu)
c.*122A>T (n.*122A>T)
c.289A>T (p.Met97Leu)
c.166A>T (p.Met56Leu)
c.355A>T (p.Met119Leu)
11g.67521067T>CCA381515593CABP2c.337A>G (p.Met113Val)
c.*122A>G (n.*122A>G)
c.289A>G (p.Met97Val)
c.166A>G (p.Met56Val)
c.355A>G (p.Met119Val)
11g.67521067T>GCA381515596CABP2c.337A>C (p.Met113Leu)
c.*122A>C (n.*122A>C)
c.289A>C (p.Met97Leu)
c.166A>C (p.Met56Leu)
c.355A>C (p.Met119Leu)
11g.67521067_67521079delCA2614639573CABP2c.325_337del (p.Thr109CysfsTer27)
c.*110_*122del (n.*110_*122del)
c.277_289del (p.Thr93CysfsTer27)
c.154_166del (p.Thr52CysfsTer27)
c.343_355del (p.Thr115CysfsTer27)
 gnomAD v4
11g.67521068G>ACA6142499CABP2c.336C>T (p.Tyr112=)
c.*121C>T (n.*121C>T)
c.288C>T (p.Tyr96=)
c.165C>T (p.Tyr55=)
c.354C>T (p.Tyr118=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67521068G>CCA381515606CABP2c.336C>G (p.Tyr112Ter)
c.*121C>G (n.*121C>G)
c.288C>G (p.Tyr96Ter)
c.165C>G (p.Tyr55Ter)
c.354C>G (p.Tyr118Ter)
11g.67521068G=CA1980194831CABP2c.336C= (p.Tyr112=)
c.*121C= (n.*121C=)
c.288C= (p.Tyr96=)
c.165C= (p.Tyr55=)
c.354C= (p.Tyr118=)
11g.67521068G>TCA381515604CABP2c.336C>A (p.Tyr112Ter)
c.*121C>A (n.*121C>A)
c.288C>A (p.Tyr96Ter)
c.165C>A (p.Tyr55Ter)
c.354C>A (p.Tyr118Ter)
11g.67521069T>ACA381515616CABP2c.335A>T (p.Tyr112Phe)
c.*120A>T (n.*120A>T)
c.287A>T (p.Tyr96Phe)
c.164A>T (p.Tyr55Phe)
c.353A>T (p.Tyr118Phe)
11g.67521069T>CCA381515609CABP2c.335A>G (p.Tyr112Cys)
c.*120A>G (n.*120A>G)
c.287A>G (p.Tyr96Cys)
c.164A>G (p.Tyr55Cys)
c.353A>G (p.Tyr118Cys)
11g.67521069T>GCA381515612CABP2c.335A>C (p.Tyr112Ser)
c.*120A>C (n.*120A>C)
c.287A>C (p.Tyr96Ser)
c.164A>C (p.Tyr55Ser)
c.353A>C (p.Tyr118Ser)
11g.67521069_67521079delCA939062904CABP2c.325_335del (p.Thr109HisfsTer22)
c.*110_*120del (n.*110_*120del)
c.277_287del (p.Thr93HisfsTer22)
c.154_164del (p.Thr52HisfsTer22)
c.343_353del (p.Thr115HisfsTer22)
 gnomAD v3 gnomAD v4
11g.67521070A>CCA381515617CABP2c.334T>G (p.Tyr112Asp)
c.*119T>G (n.*119T>G)
c.286T>G (p.Tyr96Asp)
c.163T>G (p.Tyr55Asp)
c.352T>G (p.Tyr118Asp)
 gnomAD v4
11g.67521070A>GCA381515618CABP2c.334T>C (p.Tyr112His)
c.*119T>C (n.*119T>C)
c.286T>C (p.Tyr96His)
c.163T>C (p.Tyr55His)
c.352T>C (p.Tyr118His)
 gnomAD v4
11g.67521070A>TCA381515619CABP2c.334T>A (p.Tyr112Asn)
c.*119T>A (n.*119T>A)
c.286T>A (p.Tyr96Asn)
c.163T>A (p.Tyr55Asn)
c.352T>A (p.Tyr118Asn)
11g.67521071G>ACA475382679CABP2c.333C>T (p.Gly111=)
c.*118C>T (n.*118C>T)
c.285C>T (p.Gly95=)
c.162C>T (p.Gly54=)
c.351C>T (p.Gly117=)
 dbSNP gnomAD v4
11g.67521071G>CCA475382680CABP2c.333C>G (p.Gly111=)
c.*118C>G (n.*118C>G)
c.285C>G (p.Gly95=)
c.162C>G (p.Gly54=)
c.351C>G (p.Gly117=)
11g.67521071G=CA1980194834CABP2c.333C= (p.Gly111=)
c.*118C= (n.*118C=)
c.285C= (p.Gly95=)
c.162C= (p.Gly54=)
c.351C= (p.Gly117=)
11g.67521071G>TCA475382682CABP2c.333C>A (p.Gly111=)
c.*118C>A (n.*118C>A)
c.285C>A (p.Gly95=)
c.162C>A (p.Gly54=)
c.351C>A (p.Gly117=)
11g.67521072C>ACA381515630CABP2c.332G>T (p.Gly111Val)
c.*117G>T (n.*117G>T)
c.284G>T (p.Gly95Val)
c.161G>T (p.Gly54Val)
c.350G>T (p.Gly117Val)
11g.67521072C>GCA381515626CABP2c.332G>C (p.Gly111Ala)
c.*117G>C (n.*117G>C)
c.284G>C (p.Gly95Ala)
c.161G>C (p.Gly54Ala)
c.350G>C (p.Gly117Ala)
11g.67521072C>TCA381515621CABP2c.332G>A (p.Gly111Asp)
c.*117G>A (n.*117G>A)
c.284G>A (p.Gly95Asp)
c.161G>A (p.Gly54Asp)
c.350G>A (p.Gly117Asp)
11g.67521073C>ACA381515631CABP2c.331G>T (p.Gly111Cys)
c.*116G>T (n.*116G>T)
c.283G>T (p.Gly95Cys)
c.160G>T (p.Gly54Cys)
c.349G>T (p.Gly117Cys)
11g.67521073C>GCA381515632CABP2c.331G>C (p.Gly111Arg)
c.*116G>C (n.*116G>C)
c.283G>C (p.Gly95Arg)
c.160G>C (p.Gly54Arg)
c.349G>C (p.Gly117Arg)
11g.67521073C>TCA381515633CABP2c.331G>A (p.Gly111Ser)
c.*116G>A (n.*116G>A)
c.283G>A (p.Gly95Ser)
c.160G>A (p.Gly54Ser)
c.349G>A (p.Gly117Ser)
 gnomAD v4
11g.67521074C>ACA475382686CABP2c.330G>T (p.Leu110=)
c.*115G>T (n.*115G>T)
c.282G>T (p.Leu94=)
c.159G>T (p.Leu53=)
c.348G>T (p.Leu116=)
11g.67521074C>GCA475382688CABP2c.330G>C (p.Leu110=)
c.*115G>C (n.*115G>C)
c.282G>C (p.Leu94=)
c.159G>C (p.Leu53=)
c.348G>C (p.Leu116=)
11g.67521074C>TCA475382690CABP2c.330G>A (p.Leu110=)
c.*115G>A (n.*115G>A)
c.282G>A (p.Leu94=)
c.159G>A (p.Leu53=)
c.348G>A (p.Leu116=)
11g.67521075A>CCA381515636CABP2c.329T>G (p.Leu110Arg)
c.*114T>G (n.*114T>G)
c.281T>G (p.Leu94Arg)
c.158T>G (p.Leu53Arg)
c.347T>G (p.Leu116Arg)
11g.67521075A>GCA381515638CABP2c.329T>C (p.Leu110Pro)
c.*114T>C (n.*114T>C)
c.281T>C (p.Leu94Pro)
c.158T>C (p.Leu53Pro)
c.347T>C (p.Leu116Pro)
11g.67521075A>TCA381515641CABP2c.329T>A (p.Leu110Gln)
c.*114T>A (n.*114T>A)
c.281T>A (p.Leu94Gln)
c.158T>A (p.Leu53Gln)
c.347T>A (p.Leu116Gln)
11g.67521076G>ACA224145215CABP2c.328C>T (p.Leu110=)
c.*113C>T (n.*113C>T)
c.280C>T (p.Leu94=)
c.157C>T (p.Leu53=)
c.346C>T (p.Leu116=)
 dbSNP gnomAD v4
11g.67521076G>CCA381515651CABP2c.328C>G (p.Leu110Val)
c.*113C>G (n.*113C>G)
c.280C>G (p.Leu94Val)
c.157C>G (p.Leu53Val)
c.346C>G (p.Leu116Val)
11g.67521076G=CA1980194842CABP2c.328C= (p.Leu110=)
c.*113C= (n.*113C=)
c.280C= (p.Leu94=)
c.157C= (p.Leu53=)
c.346C= (p.Leu116=)
11g.67521076G>TCA381515647CABP2c.328C>A (p.Leu110Met)
c.*113C>A (n.*113C>A)
c.280C>A (p.Leu94Met)
c.157C>A (p.Leu53Met)
c.346C>A (p.Leu116Met)
11g.67521077G>ACA6142500CABP2c.327C>T (p.Thr109=)
c.*112C>T (n.*112C>T)
c.279C>T (p.Thr93=)
c.156C>T (p.Thr52=)
c.345C>T (p.Thr115=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67521077G>CCA475382697CABP2c.327C>G (p.Thr109=)
c.*112C>G (n.*112C>G)
c.279C>G (p.Thr93=)
c.156C>G (p.Thr52=)
c.345C>G (p.Thr115=)
11g.67521077G=CA1980194848CABP2c.327C= (p.Thr109=)
c.*112C= (n.*112C=)
c.279C= (p.Thr93=)
c.156C= (p.Thr52=)
c.345C= (p.Thr115=)
11g.67521077G>TCA475382694CABP2c.327C>A (p.Thr109=)
c.*112C>A (n.*112C>A)
c.279C>A (p.Thr93=)
c.156C>A (p.Thr52=)
c.345C>A (p.Thr115=)
 dbSNP
11g.67521078G>ACA381515656CABP2c.326C>T (p.Thr109Ile)
c.*111C>T (n.*111C>T)
c.278C>T (p.Thr93Ile)
c.155C>T (p.Thr52Ile)
c.344C>T (p.Thr115Ile)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.67521078G>CCA381515659CABP2c.326C>G (p.Thr109Ser)
c.*111C>G (n.*111C>G)
c.278C>G (p.Thr93Ser)
c.155C>G (p.Thr52Ser)
c.344C>G (p.Thr115Ser)
11g.67521078G=CA1980194851CABP2c.326C= (p.Thr109=)
c.*111C= (n.*111C=)
c.278C= (p.Thr93=)
c.155C= (p.Thr52=)
c.344C= (p.Thr115=)
11g.67521078G>TCA381515661CABP2c.326C>A (p.Thr109Asn)
c.*111C>A (n.*111C>A)
c.278C>A (p.Thr93Asn)
c.155C>A (p.Thr52Asn)
c.344C>A (p.Thr115Asn)
11g.67521079T>ACA381515665CABP2c.325A>T (p.Thr109Ser)
c.*110A>T (n.*110A>T)
c.277A>T (p.Thr93Ser)
c.154A>T (p.Thr52Ser)
c.343A>T (p.Thr115Ser)
11g.67521079T>CCA381515668CABP2c.325A>G (p.Thr109Ala)
c.*110A>G (n.*110A>G)
c.277A>G (p.Thr93Ala)
c.154A>G (p.Thr52Ala)
c.343A>G (p.Thr115Ala)
11g.67521079T>GCA381515670CABP2c.325A>C (p.Thr109Pro)
c.*110A>C (n.*110A>C)
c.277A>C (p.Thr93Pro)
c.154A>C (p.Thr52Pro)
c.343A>C (p.Thr115Pro)
11g.67521080C>ACA475382702CABP2c.324G>T (p.Arg108=)
c.*109G>T (n.*109G>T)
c.276G>T (p.Arg92=)
c.153G>T (p.Arg51=)
c.342G>T (p.Arg114=)
11g.67521080C>GCA475382703CABP2c.324G>C (p.Arg108=)
c.*109G>C (n.*109G>C)
c.276G>C (p.Arg92=)
c.153G>C (p.Arg51=)
c.342G>C (p.Arg114=)
11g.67521080C>TCA475382704CABP2c.324G>A (p.Arg108=)
c.*109G>A (n.*109G>A)
c.276G>A (p.Arg92=)
c.153G>A (p.Arg51=)
c.342G>A (p.Arg114=)
 gnomAD v4
11g.67521081C>ACA381515679CABP2c.323G>T (p.Arg108Leu)
c.*108G>T (n.*108G>T)
c.275G>T (p.Arg92Leu)
c.152G>T (p.Arg51Leu)
c.341G>T (p.Arg114Leu)
11g.67521081C=CA1980194854CABP2c.323G= (p.Arg108=)
c.*108G= (n.*108G=)
c.275G= (p.Arg92=)
c.152G= (p.Arg51=)
c.341G= (p.Arg114=)
11g.67521081C>GCA381515683CABP2c.323G>C (p.Arg108Pro)
c.*108G>C (n.*108G>C)
c.275G>C (p.Arg92Pro)
c.152G>C (p.Arg51Pro)
c.341G>C (p.Arg114Pro)
11g.67521081C>TCA6142501CABP2c.323G>A (p.Arg108Gln)
c.*108G>A (n.*108G>A)
c.275G>A (p.Arg92Gln)
c.152G>A (p.Arg51Gln)
c.341G>A (p.Arg114Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67521082G>ACA6142502CABP2c.322C>T (p.Arg108Trp)
c.*107C>T (n.*107C>T)
c.274C>T (p.Arg92Trp)
c.151C>T (p.Arg51Trp)
c.340C>T (p.Arg114Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67521082G>CCA381515693CABP2c.322C>G (p.Arg108Gly)
c.*107C>G (n.*107C>G)
c.274C>G (p.Arg92Gly)
c.151C>G (p.Arg51Gly)
c.340C>G (p.Arg114Gly)
11g.67521082G=CA1980194855CABP2c.322C= (p.Arg108=)
c.*107C= (n.*107C=)
c.274C= (p.Arg92=)
c.151C= (p.Arg51=)
c.340C= (p.Arg114=)
11g.67521082G>TCA475382706CABP2c.322C>A (p.Arg108=)
c.*107C>A (n.*107C>A)
c.274C>A (p.Arg92=)
c.151C>A (p.Arg51=)
c.340C>A (p.Arg114=)
 dbSNP gnomAD v2
11g.67521082_67521083insTATCATTAAAAAACA939062908CABP2c.321_322insTTTTTTAATGATA (p.Arg108PhefsTer31)
c.*106_*107insTTTTTTAATGATA (n.*106_*107insTTTTTTAATGATA)
c.273_274insTTTTTTAATGATA (p.Arg92PhefsTer31)
c.150_151insTTTTTTAATGATA (p.Arg51PhefsTer31)
c.339_340insTTTTTTAATGATA (p.Arg114PhefsTer31)
 gnomAD v3 gnomAD v4
11g.67521083C>ACA381515701CABP2c.321G>T (p.Met107Ile)
c.*106G>T (n.*106G>T)
c.273G>T (p.Met91Ile)
c.150G>T (p.Met50Ile)
c.339G>T (p.Met113Ile)
11g.67521083C>GCA381515704CABP2c.321G>C (p.Met107Ile)
c.*106G>C (n.*106G>C)
c.273G>C (p.Met91Ile)
c.150G>C (p.Met50Ile)
c.339G>C (p.Met113Ile)
11g.67521083C>TCA381515699CABP2c.321G>A (p.Met107Ile)
c.*106G>A (n.*106G>A)
c.273G>A (p.Met91Ile)
c.150G>A (p.Met50Ile)
c.339G>A (p.Met113Ile)
11g.67521084A=CA1980194858CABP2c.320T= (p.Met107=)
c.*105T= (n.*105T=)
c.272T= (p.Met91=)
c.149T= (p.Met50=)
c.338T= (p.Met113=)
11g.67521084A>CCA381515705CABP2c.320T>G (p.Met107Arg)
c.*105T>G (n.*105T>G)
c.272T>G (p.Met91Arg)
c.149T>G (p.Met50Arg)
c.338T>G (p.Met113Arg)
11g.67521084A>GCA6142503CABP2c.320T>C (p.Met107Thr)
c.*105T>C (n.*105T>C)
c.272T>C (p.Met91Thr)
c.149T>C (p.Met50Thr)
c.338T>C (p.Met113Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67521084A>TCA381515706CABP2c.320T>A (p.Met107Lys)
c.*105T>A (n.*105T>A)
c.272T>A (p.Met91Lys)
c.149T>A (p.Met50Lys)
c.338T>A (p.Met113Lys)
11g.67521085T>ACA381515707CABP2c.319A>T (p.Met107Leu)
c.*104A>T (n.*104A>T)
c.271A>T (p.Met91Leu)
c.148A>T (p.Met50Leu)
c.337A>T (p.Met113Leu)
 gnomAD v4
11g.67521085T>CCA381515710CABP2c.319A>G (p.Met107Val)
c.*104A>G (n.*104A>G)
c.271A>G (p.Met91Val)
c.148A>G (p.Met50Val)
c.337A>G (p.Met113Val)
 gnomAD v4
11g.67521085T>GCA6142504CABP2c.319A>C (p.Met107Leu)
c.*104A>C (n.*104A>C)
c.271A>C (p.Met91Leu)
c.148A>C (p.Met50Leu)
c.337A>C (p.Met113Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.67521085T=CA1980194860CABP2c.319A= (p.Met107=)
c.*104A= (n.*104A=)
c.271A= (p.Met91=)
c.148A= (p.Met50=)
c.337A= (p.Met113=)
11g.67521085dupCA2614639625CABP2c.319dup (p.Met107AsnfsTer28)
c.*104dup (n.*104dup)
c.271dup (p.Met91AsnfsTer28)
c.148dup (p.Met50AsnfsTer28)
c.337dup (p.Met113AsnfsTer28)
 gnomAD v4
11g.67521086G>ACA475382708CABP2c.318C>T (p.Cys106=)
c.*103C>T (n.*103C>T)
c.270C>T (p.Cys90=)
c.147C>T (p.Cys49=)
c.336C>T (p.Cys112=)
 dbSNP
11g.67521086G>CCA381515713CABP2c.318C>G (p.Cys106Trp)
c.*103C>G (n.*103C>G)
c.270C>G (p.Cys90Trp)
c.147C>G (p.Cys49Trp)
c.336C>G (p.Cys112Trp)
11g.67521086G=CA1980194866CABP2c.318C= (p.Cys106=)
c.*103C= (n.*103C=)
c.270C= (p.Cys90=)
c.147C= (p.Cys49=)
c.336C= (p.Cys112=)
11g.67521086G>TCA381515716CABP2c.318C>A (p.Cys106Ter)
c.*103C>A (n.*103C>A)
c.270C>A (p.Cys90Ter)
c.147C>A (p.Cys49Ter)
c.336C>A (p.Cys112Ter)
11g.67521087C>ACA381515718CABP2c.317G>T (p.Cys106Phe)
c.*102G>T (n.*102G>T)
c.269G>T (p.Cys90Phe)
c.146G>T (p.Cys49Phe)
c.335G>T (p.Cys112Phe)
11g.67521087C=CA1980194871CABP2c.317G= (p.Cys106=)
c.*102G= (n.*102G=)
c.269G= (p.Cys90=)
c.146G= (p.Cys49=)
c.335G= (p.Cys112=)
11g.67521087C>GCA381515719CABP2c.317G>C (p.Cys106Ser)
c.*102G>C (n.*102G>C)
c.269G>C (p.Cys90Ser)
c.146G>C (p.Cys49Ser)
c.335G>C (p.Cys112Ser)
11g.67521087C>TCA381515721CABP2c.317G>A (p.Cys106Tyr)
c.*102G>A (n.*102G>A)
c.269G>A (p.Cys90Tyr)
c.146G>A (p.Cys49Tyr)
c.335G>A (p.Cys112Tyr)
 dbSNP
11g.67521088A=CA1980194879CABP2c.316T= (p.Cys106=)
c.*101T= (n.*101T=)
c.268T= (p.Cys90=)
c.145T= (p.Cys49=)
c.334T= (p.Cys112=)
11g.67521088A>CCA381515726CABP2c.316T>G (p.Cys106Gly)
c.*101T>G (n.*101T>G)
c.268T>G (p.Cys90Gly)
c.145T>G (p.Cys49Gly)
c.334T>G (p.Cys112Gly)
11g.67521088A>GCA381515729CABP2c.316T>C (p.Cys106Arg)
c.*101T>C (n.*101T>C)
c.268T>C (p.Cys90Arg)
c.145T>C (p.Cys49Arg)
c.334T>C (p.Cys112Arg)
11g.67521088A>TCA381515732CABP2c.316T>A (p.Cys106Ser)
c.*101T>A (n.*101T>A)
c.268T>A (p.Cys90Ser)
c.145T>A (p.Cys49Ser)
c.334T>A (p.Cys112Ser)
 dbSNP gnomAD v2 gnomAD v4
11g.67521089G>ACA475382712CABP2c.315C>T (p.Ala105=)
c.*100C>T (n.*100C>T)
c.267C>T (p.Ala89=)
c.144C>T (p.Ala48=)
c.333C>T (p.Ala111=)
11g.67521089G>CCA475382714CABP2c.315C>G (p.Ala105=)
c.*100C>G (n.*100C>G)
c.267C>G (p.Ala89=)
c.144C>G (p.Ala48=)
c.333C>G (p.Ala111=)
11g.67521089G>TCA475382713CABP2c.315C>A (p.Ala105=)
c.*100C>A (n.*100C>A)
c.267C>A (p.Ala89=)
c.144C>A (p.Ala48=)
c.333C>A (p.Ala111=)
11g.67521090G>ACA381515741CABP2c.314C>T (p.Ala105Val)
c.*99C>T (n.*99C>T)
c.266C>T (p.Ala89Val)
c.143C>T (p.Ala48Val)
c.332C>T (p.Ala111Val)
 dbSNP gnomAD v4
11g.67521090G>CCA381515739CABP2c.314C>G (p.Ala105Gly)
c.*99C>G (n.*99C>G)
c.266C>G (p.Ala89Gly)
c.143C>G (p.Ala48Gly)
c.332C>G (p.Ala111Gly)
11g.67521090G=CA1980194882CABP2c.314C= (p.Ala105=)
c.*99C= (n.*99C=)
c.266C= (p.Ala89=)
c.143C= (p.Ala48=)
c.332C= (p.Ala111=)
11g.67521090G>TCA381515735CABP2c.314C>A (p.Ala105Asp)
c.*99C>A (n.*99C>A)
c.266C>A (p.Ala89Asp)
c.143C>A (p.Ala48Asp)
c.332C>A (p.Ala111Asp)
 gnomAD v4 COSMIC
11g.67521091C>ACA381515744CABP2c.313G>T (p.Ala105Ser)
c.*98G>T (n.*98G>T)
c.265G>T (p.Ala89Ser)
c.142G>T (p.Ala48Ser)
c.331G>T (p.Ala111Ser)
 COSMIC
11g.67521091C>GCA381515746CABP2c.313G>C (p.Ala105Pro)
c.*98G>C (n.*98G>C)
c.265G>C (p.Ala89Pro)
c.142G>C (p.Ala48Pro)
c.331G>C (p.Ala111Pro)
11g.67521091C>TCA381515750CABP2c.313G>A (p.Ala105Thr)
c.*98G>A (n.*98G>A)
c.265G>A (p.Ala89Thr)
c.142G>A (p.Ala48Thr)
c.331G>A (p.Ala111Thr)
11g.67521092A=CA1980194884CABP2c.312T= (p.Gly104=)
c.*97T= (n.*97T=)
c.264T= (p.Gly88=)
c.141T= (p.Gly47=)
c.330T= (p.Gly110=)
11g.67521092A>CCA475382719CABP2c.312T>G (p.Gly104=)
c.*97T>G (n.*97T>G)
c.264T>G (p.Gly88=)
c.141T>G (p.Gly47=)
c.330T>G (p.Gly110=)
 dbSNP gnomAD v4
11g.67521092A>GCA475382718CABP2c.312T>C (p.Gly104=)
c.*97T>C (n.*97T>C)
c.264T>C (p.Gly88=)
c.141T>C (p.Gly47=)
c.330T>C (p.Gly110=)
11g.67521092A>TCA475382717CABP2c.312T>A (p.Gly104=)
c.*97T>A (n.*97T>A)
c.264T>A (p.Gly88=)
c.141T>A (p.Gly47=)
c.330T>A (p.Gly110=)
11g.67521093C>ACA381515755CABP2c.311G>T (p.Gly104Val)
c.*96G>T (n.*96G>T)
c.263G>T (p.Gly88Val)
c.140G>T (p.Gly47Val)
c.329G>T (p.Gly110Val)
11g.67521093C>GCA381515758CABP2c.311G>C (p.Gly104Ala)
c.*96G>C (n.*96G>C)
c.263G>C (p.Gly88Ala)
c.140G>C (p.Gly47Ala)
c.329G>C (p.Gly110Ala)
11g.67521093C>TCA381515762CABP2c.311G>A (p.Gly104Asp)
c.*96G>A (n.*96G>A)
c.263G>A (p.Gly88Asp)
c.140G>A (p.Gly47Asp)
c.329G>A (p.Gly110Asp)
11g.67521094C>ACA381515765CABP2c.310G>T (p.Gly104Cys)
c.*95G>T (n.*95G>T)
c.262G>T (p.Gly88Cys)
c.139G>T (p.Gly47Cys)
c.328G>T (p.Gly110Cys)
11g.67521094C>GCA381515767CABP2c.310G>C (p.Gly104Arg)
c.*95G>C (n.*95G>C)
c.262G>C (p.Gly88Arg)
c.139G>C (p.Gly47Arg)
c.328G>C (p.Gly110Arg)
11g.67521094C>TCA381515771CABP2c.310G>A (p.Gly104Ser)
c.*95G>A (n.*95G>A)
c.262G>A (p.Gly88Ser)
c.139G>A (p.Gly47Ser)
c.328G>A (p.Gly110Ser)
11g.67521095C>ACA475382723CABP2c.309G>T (p.Leu103=)
c.*94G>T (n.*94G>T)
c.261G>T (p.Leu87=)
c.138G>T (p.Leu46=)
c.327G>T (p.Leu109=)
11g.67521095C>GCA475382725CABP2c.309G>C (p.Leu103=)
c.*94G>C (n.*94G>C)
c.261G>C (p.Leu87=)
c.138G>C (p.Leu46=)
c.327G>C (p.Leu109=)
11g.67521095C>TCA475382724CABP2c.309G>A (p.Leu103=)
c.*94G>A (n.*94G>A)
c.261G>A (p.Leu87=)
c.138G>A (p.Leu46=)
c.327G>A (p.Leu109=)
 gnomAD v4
11g.67521096A>CCA381515774CABP2c.308T>G (p.Leu103Arg)
c.*93T>G (n.*93T>G)
c.260T>G (p.Leu87Arg)
c.137T>G (p.Leu46Arg)
c.326T>G (p.Leu109Arg)
11g.67521096A>GCA381515778CABP2c.308T>C (p.Leu103Pro)
c.*93T>C (n.*93T>C)
c.260T>C (p.Leu87Pro)
c.137T>C (p.Leu46Pro)
c.326T>C (p.Leu109Pro)
11g.67521096A>TCA381515781CABP2c.308T>A (p.Leu103Gln)
c.*93T>A (n.*93T>A)
c.260T>A (p.Leu87Gln)
c.137T>A (p.Leu46Gln)
c.326T>A (p.Leu109Gln)
11g.67521097G>ACA475382730CABP2c.307C>T (p.Leu103=)
c.*92C>T (n.*92C>T)
c.259C>T (p.Leu87=)
c.136C>T (p.Leu46=)
c.325C>T (p.Leu109=)
 dbSNP
11g.67521097G>CCA381515787CABP2c.307C>G (p.Leu103Val)
c.*92C>G (n.*92C>G)
c.259C>G (p.Leu87Val)
c.136C>G (p.Leu46Val)
c.325C>G (p.Leu109Val)
11g.67521097G=CA1980194888CABP2c.307C= (p.Leu103=)
c.*92C= (n.*92C=)
c.259C= (p.Leu87=)
c.136C= (p.Leu46=)
c.325C= (p.Leu109=)
11g.67521097G>TCA381515789CABP2c.307C>A (p.Leu103Met)
c.*92C>A (n.*92C>A)
c.259C>A (p.Leu87Met)
c.136C>A (p.Leu46Met)
c.325C>A (p.Leu109Met)
11g.67521098C>ACA381515790CABP2c.306G>T (p.Glu102Asp)
c.*91G>T (n.*91G>T)
c.258G>T (p.Glu86Asp)
c.135G>T (p.Glu45Asp)
c.324G>T (p.Glu108Asp)
11g.67521098C>GCA381515791CABP2c.306G>C (p.Glu102Asp)
c.*91G>C (n.*91G>C)
c.258G>C (p.Glu86Asp)
c.135G>C (p.Glu45Asp)
c.324G>C (p.Glu108Asp)
11g.67521098C>TCA475382731CABP2c.306G>A (p.Glu102=)
c.*91G>A (n.*91G>A)
c.258G>A (p.Glu86=)
c.135G>A (p.Glu45=)
c.324G>A (p.Glu108=)
11g.67521099T>ACA381515792CABP2c.305A>T (p.Glu102Val)
c.*90A>T (n.*90A>T)
c.257A>T (p.Glu86Val)
c.134A>T (p.Glu45Val)
c.323A>T (p.Glu108Val)
11g.67521099T>CCA381515794CABP2c.305A>G (p.Glu102Gly)
c.*90A>G (n.*90A>G)
c.257A>G (p.Glu86Gly)
c.134A>G (p.Glu45Gly)
c.323A>G (p.Glu108Gly)
11g.67521099T>GCA381515797CABP2c.305A>C (p.Glu102Ala)
c.*90A>C (n.*90A>C)
c.257A>C (p.Glu86Ala)
c.134A>C (p.Glu45Ala)
c.323A>C (p.Glu108Ala)
11g.67521100C>ACA381515802CABP2c.304G>T (p.Glu102Ter)
c.*89G>T (n.*89G>T)
c.256G>T (p.Glu86Ter)
c.133G>T (p.Glu45Ter)
c.322G>T (p.Glu108Ter)
11g.67521100C=CA1980194899CABP2c.304G= (p.Glu102=)
c.*89G= (n.*89G=)
c.256G= (p.Glu86=)
c.133G= (p.Glu45=)
c.322G= (p.Glu108=)
11g.67521100C>GCA381515804CABP2c.304G>C (p.Glu102Gln)
c.*89G>C (n.*89G>C)
c.256G>C (p.Glu86Gln)
c.133G>C (p.Glu45Gln)
c.322G>C (p.Glu108Gln)
11g.67521100C>TCA6142505CABP2c.304G>A (p.Glu102Lys)
c.*89G>A (n.*89G>A)
c.256G>A (p.Glu86Lys)
c.133G>A (p.Glu45Lys)
c.322G>A (p.Glu108Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.67521100_67521107delinsCCCGGCAGCA1980194895CABP2c.297_304delinsCTGCCGGG (p.Gly99=)
c.*82_*89delinsCTGCCGGG (n.*82_*89delinsCTGCCGGG)
c.249_256delinsCTGCCGGG (p.Gly83=)
c.126_133delinsCTGCCGGG (p.Gly42=)
c.315_322delinsCTGCCGGG (p.Gly105=)
11g.67521101C>ACA475382735CABP2c.303G>T (p.Arg101=)
c.*88G>T (n.*88G>T)
c.255G>T (p.Arg85=)
c.132G>T (p.Arg44=)
c.321G>T (p.Arg107=)
11g.67521101C>GCA475382736CABP2c.303G>C (p.Arg101=)
c.*88G>C (n.*88G>C)
c.255G>C (p.Arg85=)
c.132G>C (p.Arg44=)
c.321G>C (p.Arg107=)
 dbSNP
11g.67521101C>TCA475382737CABP2c.303G>A (p.Arg101=)
c.*88G>A (n.*88G>A)
c.255G>A (p.Arg85=)
c.132G>A (p.Arg44=)
c.321G>A (p.Arg107=)
 gnomAD v4
11g.67521103_67521109delCA1980194904CABP2c.297_303del (p.Cys100SerfsTer?)
c.*82_*88del (n.*82_*88del)
c.249_255del (p.Cys84SerfsTer?)
c.126_132del (p.Cys43SerfsTer?)
c.315_321del (p.Cys106SerfsTer?)
 dbSNP
11g.67521102C>ACA381515810CABP2c.302G>T (p.Arg101Leu)
c.*87G>T (n.*87G>T)
c.254G>T (p.Arg85Leu)
c.131G>T (p.Arg44Leu)
c.320G>T (p.Arg107Leu)
 gnomAD v4
11g.67521102C=CA1980194908CABP2c.302G= (p.Arg101=)
c.*87G= (n.*87G=)
c.254G= (p.Arg85=)
c.131G= (p.Arg44=)
c.320G= (p.Arg107=)
11g.67521102C>GCA381515812CABP2c.302G>C (p.Arg101Pro)
c.*87G>C (n.*87G>C)
c.254G>C (p.Arg85Pro)
c.131G>C (p.Arg44Pro)
c.320G>C (p.Arg107Pro)
 gnomAD v4
11g.67521102C>TCA224145221CABP2c.302G>A (p.Arg101Gln)
c.*87G>A (n.*87G>A)
c.254G>A (p.Arg85Gln)
c.131G>A (p.Arg44Gln)
c.320G>A (p.Arg107Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.67521103G>ACA381515817CABP2c.301C>T (p.Arg101Trp)
c.*86C>T (n.*86C>T)
c.253C>T (p.Arg85Trp)
c.130C>T (p.Arg44Trp)
c.319C>T (p.Arg107Trp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.67521103G>CCA381515820CABP2c.301C>G (p.Arg101Gly)
c.*86C>G (n.*86C>G)
c.253C>G (p.Arg85Gly)
c.130C>G (p.Arg44Gly)
c.319C>G (p.Arg107Gly)
11g.67521103G=CA1980194915CABP2c.301C= (p.Arg101=)
c.*86C= (n.*86C=)
c.253C= (p.Arg85=)
c.130C= (p.Arg44=)
c.319C= (p.Arg107=)
11g.67521103G>TCA475382739CABP2c.301C>A (p.Arg101=)
c.*86C>A (n.*86C>A)
c.253C>A (p.Arg85=)
c.130C>A (p.Arg44=)
c.319C>A (p.Arg107=)
 dbSNP gnomAD v2 gnomAD v4
11g.67521104G>ACA475382740CABP2c.300C>T (p.Cys100=)
c.*85C>T (n.*85C>T)
c.252C>T (p.Cys84=)
c.129C>T (p.Cys43=)
c.318C>T (p.Cys106=)
 gnomAD v4
11g.67521104G>CCA6142506CABP2c.300C>G (p.Cys100Trp)
c.*85C>G (n.*85C>G)
c.252C>G (p.Cys84Trp)
c.129C>G (p.Cys43Trp)
c.318C>G (p.Cys106Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.67521104G=CA1980194922CABP2c.300C= (p.Cys100=)
c.*85C= (n.*85C=)
c.252C= (p.Cys84=)
c.129C= (p.Cys43=)
c.318C= (p.Cys106=)
11g.67521104G>TCA381515821CABP2c.300C>A (p.Cys100Ter)
c.*85C>A (n.*85C>A)
c.252C>A (p.Cys84Ter)
c.129C>A (p.Cys43Ter)
c.318C>A (p.Cys106Ter)
11g.67521105C>ACA6142507CABP2c.299G>T (p.Cys100Phe)
c.*84G>T (n.*84G>T)
c.251G>T (p.Cys84Phe)
c.128G>T (p.Cys43Phe)
c.317G>T (p.Cys106Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67521105C=CA1980194935CABP2c.299G= (p.Cys100=)
c.*84G= (n.*84G=)
c.251G= (p.Cys84=)
c.128G= (p.Cys43=)
c.317G= (p.Cys106=)
11g.67521105C>GCA381515827CABP2c.299G>C (p.Cys100Ser)
c.*84G>C (n.*84G>C)
c.251G>C (p.Cys84Ser)
c.128G>C (p.Cys43Ser)
c.317G>C (p.Cys106Ser)
11g.67521105C>TCA6142508CABP2c.299G>A (p.Cys100Tyr)
c.*84G>A (n.*84G>A)
c.251G>A (p.Cys84Tyr)
c.128G>A (p.Cys43Tyr)
c.317G>A (p.Cys106Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.67521106A>CCA381515831CABP2c.298T>G (p.Cys100Gly)
c.*83T>G (n.*83T>G)
c.250T>G (p.Cys84Gly)
c.127T>G (p.Cys43Gly)
c.316T>G (p.Cys106Gly)
11g.67521106A>GCA381515834CABP2c.298T>C (p.Cys100Arg)
c.*83T>C (n.*83T>C)
c.250T>C (p.Cys84Arg)
c.127T>C (p.Cys43Arg)
c.316T>C (p.Cys106Arg)
11g.67521106A>TCA381515837CABP2c.298T>A (p.Cys100Ser)
c.*83T>A (n.*83T>A)
c.250T>A (p.Cys84Ser)
c.127T>A (p.Cys43Ser)
c.316T>A (p.Cys106Ser)
11g.67521107G>ACA475382744CABP2c.297C>T (p.Gly99=)
c.*82C>T (n.*82C>T)
c.249C>T (p.Gly83=)
c.126C>T (p.Gly42=)
c.315C>T (p.Gly105=)
11g.67521107G>CCA475382745CABP2c.297C>G (p.Gly99=)
c.*82C>G (n.*82C>G)
c.249C>G (p.Gly83=)
c.126C>G (p.Gly42=)
c.315C>G (p.Gly105=)
11g.67521107G>TCA475382746CABP2c.297C>A (p.Gly99=)
c.*82C>A (n.*82C>A)
c.249C>A (p.Gly83=)
c.126C>A (p.Gly42=)
c.315C>A (p.Gly105=)
11g.67521108C>ACA381515840CABP2c.296G>T (p.Gly99Val)
c.*81G>T (n.*81G>T)
c.248G>T (p.Gly83Val)
c.125G>T (p.Gly42Val)
c.314G>T (p.Gly105Val)
11g.67521108C>GCA381515842CABP2c.296G>C (p.Gly99Ala)
c.*81G>C (n.*81G>C)
c.248G>C (p.Gly83Ala)
c.125G>C (p.Gly42Ala)
c.314G>C (p.Gly105Ala)
11g.67521108C>TCA381515847CABP2c.296G>A (p.Gly99Asp)
c.*81G>A (n.*81G>A)
c.248G>A (p.Gly83Asp)
c.125G>A (p.Gly42Asp)
c.314G>A (p.Gly105Asp)
11g.67521109C>ACA381515850CABP2c.295G>T (p.Gly99Cys)
c.*80G>T (n.*80G>T)
c.247G>T (p.Gly83Cys)
c.124G>T (p.Gly42Cys)
c.313G>T (p.Gly105Cys)
11g.67521109C>GCA381515855CABP2c.295G>C (p.Gly99Arg)
c.*80G>C (n.*80G>C)
c.247G>C (p.Gly83Arg)
c.124G>C (p.Gly42Arg)
c.313G>C (p.Gly105Arg)
11g.67521109C>TCA381515858CABP2c.295G>A (p.Gly99Ser)
c.*80G>A (n.*80G>A)
c.247G>A (p.Gly83Ser)
c.124G>A (p.Gly42Ser)
c.313G>A (p.Gly105Ser)
11g.67521110A>CCA381515861CABP2c.294T>G (p.Ile98Met)
c.*79T>G (n.*79T>G)
c.246T>G (p.Ile82Met)
c.123T>G (p.Ile41Met)
c.312T>G (p.Ile104Met)
11g.67521110A>GCA475382748CABP2c.294T>C (p.Ile98=)
c.*79T>C (n.*79T>C)
c.246T>C (p.Ile82=)
c.123T>C (p.Ile41=)
c.312T>C (p.Ile104=)
11g.67521110A>TCA475382747CABP2c.294T>A (p.Ile98=)
c.*79T>A (n.*79T>A)
c.246T>A (p.Ile82=)
c.123T>A (p.Ile41=)
c.312T>A (p.Ile104=)
11g.67521111A=CA1980194938CABP2c.293T= (p.Ile98=)
c.*78T= (n.*78T=)
c.245T= (p.Ile82=)
c.122T= (p.Ile41=)
c.311T= (p.Ile104=)
11g.67521111A>CCA381515867CABP2c.293T>G (p.Ile98Ser)
c.*78T>G (n.*78T>G)
c.245T>G (p.Ile82Ser)
c.122T>G (p.Ile41Ser)
c.311T>G (p.Ile104Ser)
11g.67521111A>GCA381515869CABP2c.293T>C (p.Ile98Thr)
c.*78T>C (n.*78T>C)
c.245T>C (p.Ile82Thr)
c.122T>C (p.Ile41Thr)
c.311T>C (p.Ile104Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.67521111A>TCA381515864CABP2c.293T>A (p.Ile98Asn)
c.*78T>A (n.*78T>A)
c.245T>A (p.Ile82Asn)
c.122T>A (p.Ile41Asn)
c.311T>A (p.Ile104Asn)
11g.67521112T>ACA381515874CABP2c.292A>T (p.Ile98Phe)
c.*77A>T (n.*77A>T)
c.244A>T (p.Ile82Phe)
c.121A>T (p.Ile41Phe)
c.310A>T (p.Ile104Phe)
11g.67521112T>CCA381515870CABP2c.292A>G (p.Ile98Val)
c.*77A>G (n.*77A>G)
c.244A>G (p.Ile82Val)
c.121A>G (p.Ile41Val)
c.310A>G (p.Ile104Val)
 dbSNP gnomAD v2 gnomAD v4
11g.67521112T>GCA381515878CABP2c.292A>C (p.Ile98Leu)
c.*77A>C (n.*77A>C)
c.244A>C (p.Ile82Leu)
c.121A>C (p.Ile41Leu)
c.310A>C (p.Ile104Leu)
 dbSNP
11g.67521112T=CA1980194942CABP2c.292A= (p.Ile98=)
c.*77A= (n.*77A=)
c.244A= (p.Ile82=)
c.121A= (p.Ile41=)
c.310A= (p.Ile104=)
11g.67521113G>ACA475382751CABP2c.291C>T (p.Tyr97=)
c.*76C>T (n.*76C>T)
c.243C>T (p.Tyr81=)
c.120C>T (p.Tyr40=)
c.309C>T (p.Tyr103=)
11g.67521113G>CCA381515885CABP2c.291C>G (p.Tyr97Ter)
c.*76C>G (n.*76C>G)
c.243C>G (p.Tyr81Ter)
c.120C>G (p.Tyr40Ter)
c.309C>G (p.Tyr103Ter)
11g.67521113G>TCA381515889CABP2c.291C>A (p.Tyr97Ter)
c.*76C>A (n.*76C>A)
c.243C>A (p.Tyr81Ter)
c.120C>A (p.Tyr40Ter)
c.309C>A (p.Tyr103Ter)
11g.67521114T>ACA381515891CABP2c.290A>T (p.Tyr97Phe)
c.*75A>T (n.*75A>T)
c.242A>T (p.Tyr81Phe)
c.119A>T (p.Tyr40Phe)
c.308A>T (p.Tyr103Phe)
11g.67521114T>CCA381515893CABP2c.290A>G (p.Tyr97Cys)
c.*75A>G (n.*75A>G)
c.242A>G (p.Tyr81Cys)
c.119A>G (p.Tyr40Cys)
c.308A>G (p.Tyr103Cys)
11g.67521114T>GCA381515895CABP2c.290A>C (p.Tyr97Ser)
c.*75A>C (n.*75A>C)
c.242A>C (p.Tyr81Ser)
c.119A>C (p.Tyr40Ser)
c.308A>C (p.Tyr103Ser)

Number of alleles fetched